ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "likely benign" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14428
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
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_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) rs7983969 0.99710
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99662
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
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_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
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_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
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_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
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_000207.3(INS):c.187+11T>C rs5506 0.93263
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_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
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_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
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_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
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_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
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_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_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
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_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_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
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_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
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_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81792
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_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
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_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_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
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_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.77862
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
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_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
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_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
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_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
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_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
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_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
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_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
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_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
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_001163809.2(WDR81):c.5451A>G (p.Thr1817=) rs11549259 0.69948
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_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
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_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
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_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_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.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_000505.4(F12):c.-4T>C rs1801020 0.67118
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_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
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_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
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_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
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_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_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_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
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_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.61160
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.60740
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
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_016816.4(OAS1):c.1039-1G>A rs10774671 0.59385
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_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_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
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_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
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_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
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_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_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.56301
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.56178
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
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_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_001069.3(TUBB2A):c.564T>G (p.Ser188=) rs17849443 0.55272
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.55018
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
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_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_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
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_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.52775
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
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_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.51910
NM_198129.4(LAMA3):c.9211-21C>T rs2288592 0.51885
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_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
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_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
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_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_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
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_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
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_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_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_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly) rs10901333 0.47711
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
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_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47305
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
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_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
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_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
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_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45427
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_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
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_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
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_014832.5(TBC1D4):c.84C>G (p.Pro28=) rs7327548 0.44024
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_000254.3(MTR):c.2044-9C>T rs531027742 0.43868
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
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_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
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_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
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_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
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_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_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
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_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
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_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
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_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.38170
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_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_001077415.3(CRELD1):c.1049-393C>T rs3774207 0.37804
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.36516
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
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_198060.4(NRAP):c.*7del rs3832698 0.35956
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_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
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_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_018368.4(LMBRD1):c.763-50T>C rs2305837 0.35224
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
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_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
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_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
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_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
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_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.33029
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
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_004132.4(HABP2):c.-70T>C rs2240879 0.32584
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
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_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_014832.5(TBC1D4):c.2384-3C>T rs2297203 0.31705
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
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_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
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_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
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_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30680
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
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.8988-42G>A rs41304071 0.30406
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
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_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_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_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29507
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
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_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
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_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_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_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
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_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
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_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
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_032409.3(PINK1):c.*672T>C rs2078073 0.27437
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27336
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27290
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=) rs7221974 0.27161
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.27008
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.26843
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
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_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
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_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_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25479
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
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_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.24759
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_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_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_001281740.3(FHOD3):c.3072A>C (p.Pro1024=) rs1021276233 0.24503
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_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
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_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
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_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
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_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_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_001135998.3(NDUFB11):c.207+9C>G rs782740072 0.23464
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.23461
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) rs7317185 0.23234
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_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_201384.3(PLEC):c.2740-45G>T rs11993782 0.22902
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
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_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_000137.4(FAH):c.-178G>A rs56043846 0.22598
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_014832.5(TBC1D4):c.498+9G>A rs9573565 0.22396
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
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_007262.4(PARK7):c.-137G>A rs17523802 0.22239
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_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_001281740.3(FHOD3):c.3078A>C (p.Pro1026=) rs771717461 0.21966
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
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_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu) rs2275950 0.21674
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
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_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_006059.4(LAMC3):c.4231-10C>T rs4740411 0.20977
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln) rs4740412 0.20674
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_000937.5(POLR2A):c.5016G>A (p.Ser1672=) rs55931722 0.20661
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
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_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
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_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=) rs3794941 0.19620
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
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_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
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_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_006086.4(TUBB3):c.58-49C>T rs28593634 0.19243
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_006086.4(TUBB3):c.58-22C>T rs2302897 0.19080
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
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_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) rs7732589 0.18781
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.18733
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
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_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
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_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
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_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_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_182961.4(SYNE1):c.2098-29C>T rs7775181 0.17810
NM_182961.4(SYNE1):c.2098-50G>A rs7776344 0.17809
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_002381.4(MATN3):c.-76C>A rs188620236 0.17745
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17617
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 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_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
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_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
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_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
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_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_002469.3(MYF6):c.*152C>A rs3120 0.16661
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
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_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_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000281.3(PCBD1):c.-46G>A rs827237 0.16408
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
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.2803-25T>C rs17817806 0.16133
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
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_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
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_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_032119.4(ADGRV1):c.18433-16T>C rs72784680 0.15839
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
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_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
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_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15464
NM_001384732.1(CPLANE1):c.4080+27C>T rs78164677 0.15457
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_000392.5(ABCC2):c.-24C>T rs717620 0.15338
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_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
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_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
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_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=) rs3818800 0.14515
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_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_001365276.2(TNXB):c.11412T>C (p.Asp3804=) rs2894232 0.14383
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.14152
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
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_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_001039591.3(USP9X):c.4234-18A>C rs781379769 0.14073
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.14040
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001184.4(ATR):c.3726-47A>G rs73240314 0.13934
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_018648.3(NOP10):c.-95T>C rs2169480 0.13873
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) rs12140311 0.13867
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_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) rs2230926 0.13432
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
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_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_004113.6(FGF12):c.229-9T>C rs79176051 0.13309
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001039523.2(CHRNA1):c.-478A>G rs16862847 0.13301
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_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
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_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
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_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.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) rs2072736 0.12678
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12674
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
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_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.12317
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_001734.5(C1S):c.356G>A (p.Arg119His) rs12146727 0.12113
NM_001365276.2(TNXB):c.11531-36C>A rs71565305 0.12112
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_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_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
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.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_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_017852.5(NLRP2):c.1566A>G (p.Glu522=) rs3745905 0.11595
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
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_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.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
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_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=) rs3825074 0.11290
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_173660.5(DOK7):c.-30G>T rs146168804 0.11265
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_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.11112
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) rs482227 0.11098
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
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_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10684
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
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_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_001184.4(ATR):c.1885+39T>C rs73240318 0.10546
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
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_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_139281.3(WDR36):c.1717-20T>A rs59359951 0.10369
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_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
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_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_001365276.2(TNXB):c.8791+35G>A rs11969759 0.10162
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) rs74129455 0.10140
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_001365276.2(TNXB):c.7680C>T (p.Asp2560=) rs12196385 0.10128
NM_014795.4(ZEB2):c.917-21T>C rs35213774 0.10114
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=) rs3737906 0.09941
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
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_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
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_014249.4(NR2E3):c.119-28T>C rs2742318 0.09545
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_015409.5(EP400):c.8181A>G (p.Gln2727=) rs10902490 0.09491
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
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_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_000080.4(CHRNE):c.1220-45C>T rs75492003 0.09239
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_032444.4(SLX4):c.4739+24G>T rs12933120 0.09148
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_017852.5(NLRP2):c.585C>T (p.Phe195=) rs10403648 0.09127
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_005592.4(MUSK):c.206+28A>T rs75001517 0.09001
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
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_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
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_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
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_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08637
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
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_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
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_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08435
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08381
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) rs12211410 0.08362
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_032444.4(SLX4):c.*8A>G rs3751839 0.08334
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_025219.3(DNAJC5):c.*2711G>A rs76291580 0.08294
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_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08198
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
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_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
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_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08065
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08031
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_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
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_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met) rs9600455 0.07900
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
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_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
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_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
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_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 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_152384.3(BBS5):c.901-48G>C rs72885849 0.07581
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07555
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001321142.2(CIDEC):c.600C>T (p.His200=) rs17222536 0.07435
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_032444.4(SLX4):c.2013+137G>C rs80186343 0.07384
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_033305.3(VPS13A):c.6379-7A>T rs759586753 0.07351
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
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_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_014208.3(DSPP):c.3699A>C (p.Glu1233Asp) rs112275895 0.07276
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
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_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822 0.07027
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
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_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_173660.5(DOK7):c.652+50G>A rs2006802 0.06939
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
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_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
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_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
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_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_006059.4(LAMC3):c.1047C>T (p.Gly349=) rs45603838 0.06722
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
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_025219.3(DNAJC5):c.*2725G>A rs11554628 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_002615.6(SERPINF1):c.-86C>A rs9913583 0.06657
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06611
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087 0.06609
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06523
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
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_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
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_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_032444.4(SLX4):c.2013+23G>A rs112226642 0.06373
NM_032444.4(SLX4):c.2160+50C>T rs75762935 0.06369
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018943.3(TUBA8):c.1057-7C>T rs2234338 0.06275
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
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_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_015268.4(DNAJC13):c.4157-13T>G rs78526588 0.06240
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06188
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_018943.3(TUBA8):c.897C>T (p.Asn299=) rs362203 0.06153
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
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_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000821.7(GGCX):c.2084+45G>C rs11676382 0.06070
NM_139027.6(ADAMTS13):c.3909+32T>C rs3094374 0.06065
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_001080495.3(TNRC18):c.7887A>C (p.Ser2629=) rs891390068 0.06030
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
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_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_032119.4(ADGRV1):c.18311-22A>G rs3749605 0.05845
NM_001039141.3(TRIOBP):c.1866T>C (p.Asp622=) rs6000868 0.05844
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05821
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_032444.4(SLX4):c.4637-227C>T rs75693937 0.05798
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_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
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_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
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_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_022367.4(SEMA4A):c.*37T>C rs41265023 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_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
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_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.05642
NM_001365276.2(TNXB):c.11547A>G (p.Thr3849=) rs4711283 0.05640
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_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser) rs61744866 0.05584
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln) rs201431919 0.05582
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_004268.5(MED17):c.342T>C (p.Asp114=) rs16919376 0.05535
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) rs17222723 0.05531
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_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
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_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
NM_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_007078.3(LDB3):c.1231+30C>G rs11597201 0.05370
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
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_182961.4(SYNE1):c.23019+48G>A rs116292261 0.05274
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_017739.4(POMGNT1):c.1785+31C>A rs78405727 0.05247
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_020549.5(CHAT):c.1383-42G>C rs61710556 0.05243
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_004960.4(FUS):c.524-21T>C rs74015090 0.05142
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000487.6(ARSA):c.*96A>G rs6151429 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_058246.4(DNAJB6):c.176-20A>G rs28377945 0.05106
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001184.4(ATR):c.3172-26T>A rs76852171 0.05061
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_002016.2(FLG):c.2857G>C (p.Glu953Gln) rs201137357 0.05019
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_032444.4(SLX4):c.*113C>T rs76661336 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_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
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_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04825
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_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=) rs17101704 0.04797
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_016203.3(PRKAG2):c.-560C>T rs117728810 0.04777
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_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_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) rs959216315 0.04723
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_005639.3(SYT1):c.1074G>T (p.Val358=) rs12812916 0.04670
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_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
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_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04614
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) rs79953286 0.04591
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04579
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
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_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
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_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
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_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001378615.1(CC2D2A):c.541-25G>T rs16892080 0.04468
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_006059.4(LAMC3):c.3790C>T (p.Arg1264Trp) rs11244275 0.04427
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_001046.3(SLC12A2):c.303G>A (p.Ala101=) rs181849063 0.04420
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu) rs2229333 0.04416
NM_005045.4(RELN):c.8120-21A>C rs73714429 0.04407
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_018972.4(GDAP1):c.*1489del rs34856543 0.04395
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
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_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000163.5(GHR):c.619-28A>G rs76254681 0.04364
NM_025233.7(COASY):c.1486-5C>G rs74886553 0.04354
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_002775.5(HTRA1):c.778-20G>A rs74159166 0.04347
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_000081.4(LYST):c.5024-43T>G rs7543060 0.04336
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
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_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_000942.4(PPIB):c.-181G>A rs113066141 0.04306
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
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_001184.4(ATR):c.5381-41C>T rs34502778 0.04288
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
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_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609 0.04271
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.04243
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001083961.2(WDR62):c.1768+28G>A rs77938609 0.04228
NM_004977.3(KCNC3):c.123G>T (p.Gln41His) rs185017345 0.04227
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_017739.4(POMGNT1):c.355-27C>T rs76693406 0.04225
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
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_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
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_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
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_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
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_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000081.4(LYST):c.3713-26G>A rs9803890 0.04021
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03993
NM_020451.3(SELENON):c.1501-31C>T rs72877469 0.03988
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_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
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_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03937
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_198506.5(LRIT3):c.168C>T (p.Pro56=) rs17040904 0.03935
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
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_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.03894
NM_002470.4(MYH3):c.5160+30G>T rs73976871 0.03891
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_001083961.2(WDR62):c.561+44C>G rs115806759 0.03880
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) rs78992879 0.03856
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
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_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001042492.3(NF1):c.6148-29_6148-28insA rs66638017 0.03789
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.03789
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
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_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03735
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) rs35232724 0.03714
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_003722.5(TP63):c.*2636del rs5855278 0.03709
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 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_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
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_032409.3(PINK1):c.344A>T (p.Gln115Leu) rs148871409 0.03666
NM_000249.4(MLH1):c.1039-29A>T rs6771325 0.03662
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_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
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_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
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_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_000251.3(MSH2):c.2005+42G>T rs17218446 0.03590
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03578
NM_032545.4(CFC1):c.588C>A (p.Pro196=) rs587780885 0.03574
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_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_014425.5(INVS):c.273+46C>T rs76975466 0.03524
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03501
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_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_001711.6(BGN):c.564C>T (p.Ile188=) rs2070933 0.03463
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_002075.4(GNB3):c.699+115del rs1482567541 0.03450
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
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_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03373
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_018668.5(VPS33B):c.1405+36G>A rs116787959 0.03351
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
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_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476 0.03290
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 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_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_000540.3(RYR1):c.10937+39G>A rs2945049 0.03213
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03213
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187 0.03212
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
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_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
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_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
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_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe) rs17857382 0.03087
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.03076
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
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_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_005476.7(GNE):c.1281+44G>A rs16933102 0.03050
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.03048
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_001083961.2(WDR62):c.3514+44G>A rs45468494 0.03042
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02982
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048 0.02966
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
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_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_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_007286.6(SYNPO):c.2367A>C (p.Pro789=) rs554668244 0.02915
NM_001161352.2(KCNMA1):c.378+302G>A rs76903211 0.02905
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02903
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02899
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_012398.3(PIP5K1C):c.15A>G (p.Val5=) rs181777039 0.02892
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000174.5(GP9):c.*7C>T rs115005114 0.02870
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
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_182925.5(FLT4):c.58+28C>G rs147801168 0.02861
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_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 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_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_170606.3(KMT2C):c.7443-6T>A rs73728767 0.02825
NM_017739.4(POMGNT1):c.880-39G>C rs115804669 0.02824
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
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_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 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_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_023036.6(DNAI2):c.725-27C>T rs72848284 0.02780
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02760
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.02758
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
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_000391.4(TPP1):c.381-10dup rs146315473 0.02726
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_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NR_028089.1(NXF5):n.1047T>C rs4021041 0.02708
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) rs73464035 0.02699
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
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_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
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_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02658
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
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_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_001372044.2(SHANK3):c.1803-8C>T rs112659165 0.02605
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_015346.4(ZFYVE26):c.2332+7del rs145183291 0.02598
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001082538.3(TCTN1):c.341+46G>T rs80078413 0.02579
NM_033337.3(CAV3):c.115-45C>T rs80340058 0.02576
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu) rs13059805 0.02575
NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=) rs3856748 0.02575
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_001080495.3(TNRC18):c.7857A>C (p.Ser2619=) rs866165739 0.02568
NM_007175.8(ERLIN2):c.318C>T (p.Asn106=) rs16887018 0.02568
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr) rs61745483 0.02563
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213 0.02546
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
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_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
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_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu) rs143039156 0.02484
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_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_004993.6(ATXN3):c.882A>G (p.Gln294=) rs12896589 0.02453
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
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_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_001843.4(CNTN1):c.401-9C>T rs57340925 0.02401
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_018368.3(LMBRD1):c.-250G>C rs112053239 0.02394
NM_025009.5(CEP135):c.2976C>G (p.Thr992=) rs35143702 0.02394
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
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_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_000090.4(COL3A1):c.4011+34A>G rs41265549 0.02376
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_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
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_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) rs11538384 0.02355
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
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_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
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_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_002047.4(GARS1):c.1700-45T>C rs118002895 0.02313
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 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_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_032409.3(PINK1):c.*490A>C rs16824318 0.02268
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_032444.4(SLX4):c.4637-110T>C rs74005837 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_005577.4(LPA):c.5157C>T (p.Asp1719=) rs41264848 0.02249
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
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_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_198076.6(COX20):c.42+9G>A rs192100928 0.02237
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_007374.3(SIX6):c.21G>A (p.Leu7=) rs61746410 0.02217
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_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 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_170707.4(LMNA):c.1158-43A>G rs16837198 0.02198
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 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_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
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_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 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_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
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_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
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_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
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_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
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_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
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_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_000426.4(LAMA2):c.1467+38C>T rs78299321 0.02120
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_024079.5(ALG8):c.1039-5T>C rs112211908 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_006440.5(TXNRD2):c.374+13C>T rs9606178 0.02112
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_018896.5(CACNA1G):c.1479C>T (p.His493=) rs9897406 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_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_005144.5(HR):c.1859G>A (p.Arg620Gln) rs117197822 0.02084
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
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_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 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_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
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_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
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_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile) rs11557064 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_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001194.4(HCN2):c.2625G>T (p.Leu875=) rs541952823 0.02003
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
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_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 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_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
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_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
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_153704.6(TMEM67):c.2908-43C>T rs56307046 0.01977
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01968
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
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_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
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_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_153704.6(TMEM67):c.870-29A>G rs116802062 0.01936
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527 0.01935
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=) rs146562116 0.01926
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_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
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_006059.4(LAMC3):c.2559C>T (p.Ser853=) rs34652877 0.01902
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_006790.3(MYOT):c.-251A>G rs6863775 0.01894
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) rs61753424 0.01891
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_001122659.3(EDNRB):c.*1546A>G rs3027094 0.01879
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
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_153766.3(KCNJ1):c.45G>A (p.Gly15=) rs75088315 0.01875
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000289.6(PFKM):c.594-41A>G rs56009798 0.01863
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) rs200021871 0.01863
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_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_006790.3(MYOT):c.*190C>G rs74711051 0.01853
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_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser) rs144714250 0.01838
NM_001332.4(CTNND2):c.726C>T (p.Asp242=) rs61749843 0.01837
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 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_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_025132.4(WDR19):c.1357-10T>C rs16995189 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_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_018341.3(ERMARD):c.1944A>G (p.Thr648=) rs2274952 0.01821
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
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_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 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_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr) rs73062575 0.01804
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
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_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
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_002470.4(MYH3):c.4647+27G>A rs73281077 0.01783
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_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 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_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 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_001567.4(INPPL1):c.1894C>A (p.Leu632Ile) rs61749195 0.01759
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963 0.01753
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=) rs62648071 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_153704.6(TMEM67):c.506+48G>A rs73694924 0.01745
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_003212.4(CRIPTO):c.331C>G (p.Arg111Gly) rs34501971 0.01743
NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp) rs543580 0.01739
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 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_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala) rs4915154 0.01733
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228 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_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg) rs150359724 0.01713
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_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01703
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_001267550.2(TTN):c.37202-4T>C rs202032281 0.01693
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_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
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_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007254.4(PNKP):c.817-47C>T rs3739198 0.01670
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=) rs535294541 0.01666
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_002354.2(EPCAM):c.*265A>T rs11554292 0.01658
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
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_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
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_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 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_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_003805.5(CRADD):c.554G>A (p.Arg185Gln) rs73365258 0.01629
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_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_015346.4(ZFYVE26):c.6987-3C>T rs76728509 0.01610
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
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_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_000070.3(CAPN3):c.1355-6G>A rs28364485 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026 0.01589
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr) rs6501 0.01583
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=) rs115019873 0.01570
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr) rs2659874 0.01569
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_020921.4(NIN):c.819C>T (p.Phe273=) rs61755581 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01561
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr) rs8120693 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_018943.3(TUBA8):c.816C>T (p.Tyr272=) rs2234332 0.01553
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
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_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
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_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu) rs76282091 0.01498
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 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_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
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_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 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_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_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_025009.5(CEP135):c.1220G>A (p.Ser407Asn) rs62641664 0.01474
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
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_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 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_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_152722.5(HEPACAM):c.*50C>G rs192160991 0.01463
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
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_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 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_000308.4(CTSA):c.53_54del (p.Leu18fs) rs562182818 0.01435
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
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_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
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_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 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_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_001164508.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241 0.01414
NM_000747.3(CHRNB1):c.821-9C>T rs76001008 0.01413
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe) rs61746524 0.01404
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val) rs35505100 0.01398
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_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_015378.4(VPS13D):c.9024T>C (p.Ile3008=) rs41279460 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000545.8(HNF1A):c.1720= (p.Ser574=) rs1169305 0.01390
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 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_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
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_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 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_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
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_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001048166.1(STIL):c.453+18C>T rs75983191 0.01360
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_001130987.2(DYSF):c.3229-31G>A rs72902605 0.01353
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_032545.4(CFC1):c.606G>C (p.Leu202=) rs587780887 0.01351
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) rs12136658 0.01344
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
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_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
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_153033.5(KCTD7):c.315-24C>T rs75672175 0.01333
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_002907.4(RECQL):c.1798-4G>T rs557749011 0.01329
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_001032221.6(STXBP1):c.38-3T>C rs138763389 0.01315
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 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_016579.4(CD320):c.769G>A (p.Glu257Lys) rs2232786 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_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
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_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_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_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
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_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
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_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_001159699.2(FHL1):c.737-13T>C rs11798700 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_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_003394.4(WNT10B):c.901C>T (p.Pro301Ser) rs35034312 0.01260
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 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_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838 0.01255
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
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_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 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_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 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_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_015202.5(KATNIP):c.2516A>G (p.Asp839Gly) rs139475287 0.01223
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
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_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 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_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
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_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
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_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_001848.3(COL6A1):c.859-20C>T rs78884675 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_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557 0.01180
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_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
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_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749 0.01155
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 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_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
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_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 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_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) rs11800305 0.01131
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
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_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705 0.01119
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743 0.01101
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
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_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_213622.4(STAMBP):c.921G>T (p.Gly307=) rs77000353 0.01095
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_006294.5(UQCRB):c.195G>A (p.Arg65=) rs11558865 0.01093
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=) rs28710457 0.01086
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
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_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_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_001271696.3(ABCB7):c.246+1G>A rs61323727 0.01077
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 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_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
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_002335.4(LRP5):c.3918G>A (p.Ala1306=) rs11574425 0.01064
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 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_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517 0.01042
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) rs45598734 0.01040
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_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_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) rs80040227 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 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_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 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_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_001673.5(ASNS):c.829G>A (p.Ala277Thr) rs2070159 0.01014
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_005245.4(FAT1):c.11155G>A (p.Val3719Met) rs35670235 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_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 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_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_007103.4(NDUFV1):c.1163-12del rs147787116 0.01006
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys) rs34203073 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_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_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
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_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 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_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275 0.00989
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
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_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474 0.00980
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 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_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
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_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 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_152705.3(POLR1D):c.278A>G (p.His93Arg) rs118191175 0.00967
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_002637.4(PHKA1):c.538-25T>C rs149014464 0.00963
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr) rs61746722 0.00962
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) rs79141749 0.00956
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
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_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_152743.4(BRAT1):c.1135-8C>A rs113613637 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_020297.4(ABCC9):c.*19T>C rs114906131 0.00935
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_015713.5(RRM2B):c.48+273G>T rs149523343 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_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 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_004070.4(CLCNKA):c.2055T>C (p.Ala685=) rs371202740 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_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00920
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568 0.00917
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_000426.4(LAMA2):c.1206+11C>T rs115007959 0.00915
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00914
NM_006231.4(POLE):c.3265_3275+15dup rs1555225627 0.00913
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190 0.00912
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 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_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
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_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_003737.4(DCHS1):c.5697A>G (p.Ala1899=) rs11040936 0.00900
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00899
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 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_001032221.6(STXBP1):c.1356C>T (p.Thr452=) rs35099393 0.00894
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met) rs57816762 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser) rs144317041 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667 0.00888
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 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_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
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_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00872
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
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_016734.3(PAX5):c.964G>A (p.Ala322Thr) rs34810717 0.00861
NM_001849.4(COL6A2):c.1672-12G>A rs113857622 0.00860
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_004526.4(MCM2):c.1186G>A (p.Ala396Thr) rs3087450 0.00858
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.00851
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_020461.4(TUBGCP6):c.3307C>T (p.Arg1103Trp) rs61739385 0.00849
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_015922.3(NSDHL):c.942C>T (p.Ile314=) rs35375481 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp) rs149507450 0.00840
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser) rs138288952 0.00834
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001101362.3(KBTBD13):c.-13C>T rs147079462 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg) rs78925077 0.00824
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
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_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_006129.5(BMP1):c.-15C>G rs373839736 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_001080517.3(SETD5):c.3409A>G (p.Met1137Val) rs13327456 0.00812
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_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_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_198576.4(AGRN):c.5223C>T (p.Gly1741=) rs147681220 0.00805
NM_138477.4(CDAN1):c.-14G>A rs190314153 0.00804
NM_213595.4(ISCU):c.51G>A (p.Leu17=) rs112552261 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_001267052.2(UNC45B):c.1130A>G (p.Lys377Arg) rs41389545 0.00803
NM_006086.4(TUBB3):c.702C>T (p.Ser234=) rs147245174 0.00803
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 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_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=) rs146851485 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440 0.00783
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) rs143509965 0.00781
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_133433.4(NIPBL):c.5863-30A>G rs199888273 0.00781
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_005505.5(SCARB1):c.21G>C (p.Ala7=) rs199966909 0.00778
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_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_005245.4(FAT1):c.3803G>A (p.Arg1268Gln) rs113970444 0.00774
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527 0.00766
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 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_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 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_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_015426.5(POC1A):c.149C>T (p.Pro50Leu) rs11546882 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676 0.00757
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_002949.4(MRPL12):c.133T>C (p.Cys45Arg) rs112518314 0.00754
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_001830.4(CLCN4):c.244+4C>G rs192492405 0.00750
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_000310.4(PPT1):c.536+25T>C rs16826876 0.00744
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_025265.4(TSEN2):c.-18+1G>T rs147893483 0.00741
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_020442.6(VARS2):c.1670C>A (p.Ala557Asp) rs55822421 0.00736
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
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_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) rs28515675 0.00726
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_016139.4(CHCHD2):c.*45dup rs35957514 0.00725
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787 0.00720
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001127511.3(APC):c.-152C>T rs138386816 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 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_182961.4(SYNE1):c.24977-1678T>G rs74709220 0.00709
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_001134831.2(AHI1):c.2962-16A>G rs41287056 0.00707
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 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_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr) rs74685771 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 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_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 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_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 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_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017 0.00692
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=) rs17778478 0.00691
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
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_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
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_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 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_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_032273.4(TMEM126A):c.395+5G>A rs115906592 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314 0.00677
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_000092.5(COL4A4):c.666G>A (p.Pro222=) rs111945121 0.00676
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_004736.4(XPR1):c.819G>T (p.Arg273=) rs144546884 0.00675
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088 0.00672
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001916.5(CYC1):c.960A>C (p.Ala320=) rs35387134 0.00671
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_001142784.3(IL11RA):c.72C>T (p.Ser24=) rs34893971 0.00670
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=) rs144316388 0.00662
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=) rs146358566 0.00657
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 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_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 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_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_006059.4(LAMC3):c.2352G>A (p.Arg784=) rs35654564 0.00652
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg) rs55679040 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001292063.2(OTOG):c.8168T>C (p.Leu2723Pro) rs180703235 0.00643
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=) rs150770244 0.00637
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 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_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
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_001378615.1(CC2D2A):c.-18-2673G>A rs183968785 0.00636
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
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_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) rs9332747 0.00631
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_001080779.2(MYO1C):c.2574A>C (p.Lys858Asn) rs61753652 0.00630
NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=) rs116909245 0.00630
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176 0.00628
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_000363.5(TNNI3):c.-47C>T rs202159627 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756 0.00624
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_014252.4(SLC25A15):c.-67A>T rs112276566 0.00623
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_058004.4(PI4KA):c.4266C>T (p.Thr1422=) rs138454247 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn) rs145653077 0.00603
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004447.6(EPS8):c.1482T>C (p.Ser494=) rs75560906 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_206937.2(LIG4):c.*3del rs551263548 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 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_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001018020.2(TPM1):c.*31G>A rs11558748 0.00598
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 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_017827.4(SARS2):c.248C>T (p.Ser83Leu) rs34050897 0.00595
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg) rs142416636 0.00588
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274 0.00587
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) rs145467198 0.00585
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_014336.5(AIPL1):c.277-14G>A rs117749485 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_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala) rs144913206 0.00580
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser) rs150295921 0.00580
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
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_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_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_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) rs2292470 0.00576
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His) rs143508709 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_006351.4(TIMM44):c.69A>G (p.Gln23=) rs35992331 0.00569
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_020442.6(VARS2):c.423G>A (p.Met141Ile) rs141408930 0.00569
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 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_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_001370595.2(COA8):c.224A>G (p.Asn75Ser) rs35960830 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 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_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val) rs149610963 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_006129.5(BMP1):c.2234-20C>T rs142089697 0.00555
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala) rs191967636 0.00555
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_203486.3(DLL3):c.543T>C (p.Pro181=) rs115194365 0.00553
NM_001130823.3(DNMT1):c.117+19T>C rs77954383 0.00552
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865 0.00551
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001378609.3(OTOGL):c.5923T>C (p.Leu1975=) rs73139245 0.00550
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_005619.5(RTN2):c.444C>G (p.Gly148=) rs139232850 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_000151.4(G6PC1):c.340+42C>T rs116797100 0.00549
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
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_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly) rs34533087 0.00548
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=) rs75991872 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=) rs35355603 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_006059.4(LAMC3):c.786G>A (p.Val262=) rs2275133 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_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=) rs55655135 0.00541
NM_016035.5(COQ4):c.483G>C (p.Glu161Asp) rs141228574 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 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_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
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_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_018993.4(RIN2):c.965G>A (p.Ser322Asn) rs199693970 0.00538
NM_032322.4(RNF135):c.1245G>T (p.Trp415Cys) rs61749868 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_016417.3(GLRX5):c.204C>T (p.Gly68=) rs71431696 0.00534
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_007118.4(TRIO):c.2588-12T>A rs146739260 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_000310.4(PPT1):c.363-18C>G rs143235344 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_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000260.4(MYO7A):c.4441+19T>C rs11237114 0.00529
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001457.4(FLNB):c.669G>A (p.Pro223=) rs140815373 0.00527
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_000540.3(RYR1):c.2241G>A (p.Leu747=) rs34097444 0.00526
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00526
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) rs146233988 0.00526
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_004074.3(COX8A):c.111C>A (p.Ile37=) rs61759492 0.00525
NM_022773.4(LMF1):c.1593G>C (p.Glu531Asp) rs190958016 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) rs144673025 0.00523
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_001457.4(FLNB):c.5646G>A (p.Pro1882=) rs114882667 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_001291303.3(FAT4):c.12986A>G (p.Asp4329Gly) rs114234553 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
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_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
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_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00514
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) rs73394756 0.00510
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_005560.6(LAMA5):c.5627G>T (p.Gly1876Val) rs148177752 0.00506
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 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_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368 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_018109.4(MTPAP):c.158-9C>T rs139217290 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_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys) rs61751592 0.00501
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000166.6(GJB1):c.-77G>A rs190676487 0.00500
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982 0.00499
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 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_000157.4(GBA1):c.1092G>A (p.Gly364=) rs143222798 0.00497
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=) rs35558429 0.00497
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001303052.2(MYT1L):c.1817+15T>G rs180992065 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 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_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_001206999.2(CIT):c.26G>A (p.Arg9Gln) rs56193743 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=) rs34041767 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_005886.3(KATNB1):c.856-5T>G rs200584307 0.00490
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_001128159.3(VPS53):c.2046C>T (p.Leu682=) rs145601260 0.00489
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 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_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856 0.00488
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys) rs142520878 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 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_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_002291.3(LAMB1):c.3012G>A (p.Thr1004=) rs113725211 0.00487
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_018112.3(TMEM38B):c.113-7A>G rs186864213 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_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_080473.5(GATA5):c.8A>G (p.Gln3Arg) rs113068438 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001458.5(FLNC):c.1813+36G>A rs142756348 0.00482
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_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) rs117082250 0.00481
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=) rs142642466 0.00478
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_016599.5(MYOZ2):c.76+19C>T rs77591499 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_003922.4(HERC1):c.6225+4C>T rs141414233 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_002561.4(P2RX5):c.1259+6G>A rs185353702 0.00474
NM_002949.4(MRPL12):c.99C>T (p.Ala33=) rs148659191 0.00474
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_017780.4(CHD7):c.3379-33A>G rs45461501 0.00473
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 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_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) rs55688805 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_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) rs61746297 0.00470
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_006005.3(WFS1):c.-6+11C>T rs547998667 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_001134831.2(AHI1):c.932-10A>G rs114319588 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_014727.3(KMT2B):c.364-16C>T rs138399600 0.00468
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) rs117791519 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001292063.2(OTOG):c.2098G>A (p.Ala700Thr) rs113745835 0.00467
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=) rs118169466 0.00464
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=) rs117703371 0.00462
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 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_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) rs34550163 0.00460
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) rs181679245 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_012330.4(KAT6B):c.621+40C>A rs148075179 0.00459
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln) rs192520307 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
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_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212 0.00455
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857 0.00455
NM_001365276.2(TNXB):c.5746A>G (p.Thr1916Ala) rs17207916 0.00455
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_001457.4(FLNB):c.4671+11G>A rs115346578 0.00454
NM_001853.4(COL9A3):c.209C>T (p.Pro70Leu) rs143307835 0.00454
NM_004456.5(EZH2):c.396T>C (p.Pro132=) rs61732845 0.00454
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_001129.5(AEBP1):c.560C>G (p.Pro187Arg) rs200193837 0.00453
NM_003672.4(CDC14A):c.819C>G (p.Ala273=) rs28364884 0.00453
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=) rs1190429 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) rs139347804 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_133259.4(LRPPRC):c.149+20C>G rs540850536 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 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_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg) rs200879436 0.00450
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_005557.4(KRT16):c.199G>A (p.Gly67Ser) rs62066634 0.00450
NM_005619.5(RTN2):c.351A>G (p.Gln117=) rs144028452 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_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000350.3(ABCA4):c.*136G>A rs55665437 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_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 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_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_024854.5(PYROXD1):c.881-6T>G rs185019468 0.00444
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446 0.00443
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096 0.00442
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634 0.00441
NM_004333.6(BRAF):c.1141-110G>A rs117001169 0.00440
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_006000.3(TUBA4A):c.909A>G (p.Val303=) rs141922502 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_201525.4(ADGRG1):c.1933+10A>G rs137936275 0.00438
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
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_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_001486.4(GCKR):c.1619G>A (p.Arg540Gln) rs8179249 0.00435
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000125.4(ESR1):c.352T>C (p.Ser118Pro) rs200075329 0.00434
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_020921.4(NIN):c.4837C>T (p.Arg1613Cys) rs61755995 0.00434
NM_194248.3(OTOF):c.2215-19C>G rs111033427 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_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) rs146431326 0.00429
NM_016011.5(MECR):c.830C>T (p.Ala277Val) rs148978800 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316 0.00427
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_001291303.3(FAT4):c.6733G>A (p.Val2245Ile) rs112971995 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_006262.4(PRPH):c.996+1G>A rs73112142 0.00426
NM_000214.3(JAG1):c.1570-28C>G rs144983462 0.00425
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_152268.4(PARS2):c.843C>T (p.Asn281=) rs145005088 0.00425
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_145309.6(LRRC51):c.*1201A>C rs188080974 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_004958.4(MTOR):c.510G>C (p.Leu170=) rs12120294 0.00421
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe) rs145258663 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) rs61758802 0.00418
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys) rs34324114 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_015971.4(MRPS7):c.47C>T (p.Ala16Val) rs148590649 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_002291.3(LAMB1):c.4221C>T (p.Ser1407=) rs35082294 0.00416
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 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_000426.4(LAMA2):c.3556-15T>G rs17741922 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_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His) rs150893072 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_021100.5(NFS1):c.437A>G (p.Lys146Arg) rs112446981 0.00413
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_015971.4(MRPS7):c.645C>T (p.Asn215=) rs61745718 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) rs62176112 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_001696.4(ATP6V1E1):c.528C>T (p.Asp176=) rs73391487 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_020117.11(LARS1):c.2666G>A (p.Gly889Asp) rs150148403 0.00403
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) rs142889670 0.00401
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411 0.00400
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln) rs149431491 0.00399
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_022915.5(MRPL44):c.672T>A (p.Thr224=) rs75696641 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_201550.4(LRRC10):c.584T>C (p.Ile195Thr) rs151080979 0.00397
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001069.3(TUBB2A):c.780C>T (p.Phe260=) rs145184832 0.00396
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) rs143785002 0.00396
NM_001843.4(CNTN1):c.2493T>C (p.His831=) rs61754102 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) rs114329068 0.00395
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) rs4134804 0.00394
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_014159.7(SETD2):c.5271C>T (p.Leu1757=) rs144825663 0.00389
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_030632.3(ASXL3):c.1116C>T (p.Leu372=) rs117356074 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193 0.00385
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser) rs149983875 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys) rs35693485 0.00382
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095 0.00378
NM_006059.4(LAMC3):c.517C>T (p.Arg173Trp) rs145775274 0.00378
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_012108.4(STAP1):c.120+6T>C rs187909999 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_020117.11(LARS1):c.2578G>A (p.Ala860Thr) rs112912805 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_139242.4(MTFMT):c.667T>A (p.Leu223Met) rs188461284 0.00375
NM_001031709.3(RNLS):c.332T>C (p.Ile111Thr) rs140158928 0.00374
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_001130987.2(DYSF):c.1288G>A (p.Val430Met) rs144202114 0.00373
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) rs111753827 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000237.3(LPL):c.1018+34A>G rs190249506 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
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_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00372
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg) rs114755302 0.00371
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_005373.3(MPL):c.391+47C>T rs839994 0.00367
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001291303.3(FAT4):c.12855T>C (p.Asp4285=) rs78040862 0.00365
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_198999.3(SLC26A5):c.1335T>C (p.Ile445=) rs142639517 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_198334.3(GANAB):c.917A>G (p.Asn306Ser) rs138726440 0.00361
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_001886.3(CRYBA4):c.40-1G>C rs142090709 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_024876.4(COQ8B):c.1305C>T (p.Ser435=) rs139130454 0.00358
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) rs149588872 0.00357
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001243133.2(NLRP3):c.1389C>T (p.His463=) rs111400208 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001278116.2(L1CAM):c.992-32C>T rs191412165 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001458.5(FLNC):c.2122-27T>C rs117577125 0.00352
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp) rs113358395 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=) rs199667506 0.00349
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_018429.3(BDP1):c.2176A>T (p.Ile726Leu) rs34588160 0.00344
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg) rs73430135 0.00342
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=) rs201687417 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 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_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln) rs116363417 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076 0.00337
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 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_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_015971.4(MRPS7):c.593G>A (p.Arg198Gln) rs35418346 0.00333
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) rs201487604 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 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_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001098.3(ACO2):c.231C>T (p.Pro77=) rs150593227 0.00327
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001291303.3(FAT4):c.7358G>T (p.Ser2453Ile) rs72914988 0.00327
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_006351.4(TIMM44):c.138A>G (p.Pro46=) rs145509783 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_001032283.3(TMPO):c.*1A>G rs1058300 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00324
NM_018082.6(POLR3B):c.2136A>G (p.Leu712=) rs139146614 0.00324
NM_032119.4(ADGRV1):c.18746T>G (p.Leu6249Arg) rs41311625 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_000032.5(ALAS2):c.-15-1790G>A rs189947718 0.00322
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_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497 0.00319
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu) rs7580439 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303 0.00318
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 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_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_020975.6(RET):c.1063+47G>A rs372177579 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000257.4(MYH7):c.4644+24G>T rs3729826 0.00312
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001145026.2(PTPRQ):c.2599T>C (p.Ser867Pro) rs143156047 0.00310
NM_001206999.2(CIT):c.4115T>C (p.Met1372Thr) rs116251862 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 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_015488.5(PNKD):c.353-26C>T rs201632828 0.00310
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_005202.4(COL8A2):c.1746C>T (p.Thr582=) rs149090218 0.00309
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 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_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 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_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 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_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
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_001363118.2(SLC52A2):c.1001+6C>T rs139398461 0.00306
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001101362.3(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_014795.4(ZEB2):c.403+18C>T rs116404871 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu) rs149748534 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 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_198576.4(AGRN):c.4839C>T (p.Cys1613=) rs113020870 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 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_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=) rs200259257 0.00299
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_002160.4(TNC):c.6499G>A (p.Val2167Ile) rs149752009 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 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_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000441.2(SLC26A4):c.601-17C>T rs78330939 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_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_014727.3(KMT2B):c.6321G>A (p.Glu2107=) rs200327646 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=) rs73271536 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_003672.4(CDC14A):c.1604A>G (p.Gln535Arg) rs113885721 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp) rs34409363 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 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_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935 0.00290
NM_001077350.3(NPRL3):c.629+9G>C rs142080016 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_001271.4(CHD2):c.5153+70T>C rs185298961 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_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=) rs73424033 0.00289
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 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_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_031418.4(ANO3):c.714C>T (p.Asp238=) rs146532706 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000142.5(FGFR3):c.2205C>G (p.Pro735=) rs145020302 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_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_002936.6(RNASEH1):c.288C>T (p.Ser96=) rs146794938 0.00287
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_014822.4(SEC24D):c.599C>T (p.Pro200Leu) rs114096530 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_012335.4(MYO1F):c.2860G>T (p.Asp954Tyr) rs201832487 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_001112741.2(KCNC1):c.570+19A>T rs186151622 0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 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_198576.4(AGRN):c.1434G>A (p.Thr478=) rs147346337 0.00281
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_001145026.2(PTPRQ):c.5196A>C (p.Pro1732=) rs187900644 0.00280
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_002168.4(IDH2):c.939A>G (p.Gly313=) rs16943901 0.00280
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_018896.5(CACNA1G):c.2907G>A (p.Ala969=) rs60134952 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser) rs139963188 0.00279
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) rs2230062 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_032380.5(GFM2):c.1718G>A (p.Arg573His) rs143461990 0.00278
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=) rs149903666 0.00277
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_018429.3(BDP1):c.5548C>T (p.Arg1850Trp) rs34727932 0.00277
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001039876.3(SYNE4):c.*5T>C rs73928380 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=) rs73489339 0.00274
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 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_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_182894.3(VSX2):c.522C>T (p.Asp174=) rs78509400 0.00273
NM_198999.3(SLC26A5):c.-13A>C rs142432368 0.00273
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_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_007118.4(TRIO):c.9247C>T (p.Arg3083Cys) rs61740945 0.00272
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_020312.4(COQ9):c.826C>T (p.Arg276Trp) rs143587648 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_198999.3(SLC26A5):c.137T>C (p.Leu46Pro) rs141952919 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 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_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_014727.3(KMT2B):c.1575G>A (p.Arg525=) rs116170996 0.00269
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000107.3(DDB2):c.738G>A (p.Thr246=) rs144266685 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_003737.4(DCHS1):c.1545C>T (p.Gly515=) rs147784593 0.00267
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_022726.4(ELOVL4):c.101-4A>G rs140639896 0.00267
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 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_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_024513.4(FYCO1):c.1474C>T (p.Arg492Trp) rs143704916 0.00265
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 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_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg) rs13087457 0.00264
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) rs143188189 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_032380.5(GFM2):c.1880T>C (p.Ile627Thr) rs34845453 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000311.5(PRNP):c.204T>C (p.Pro68=) rs532493114 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_017763.6(RNF43):c.582+30C>T rs79125070 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 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_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_033109.5(PNPT1):c.852G>C (p.Val284=) rs139091915 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 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_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile) rs146980702 0.00258
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val) rs201715229 0.00258
NM_052854.4(CREB3L1):c.1333A>G (p.Met445Val) rs144263134 0.00258
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 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_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_003240.5(LEFTY2):c.324G>A (p.Pro108=) rs199979438 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_139242.4(MTFMT):c.186G>C (p.Ala62=) rs183891284 0.00256
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=) rs115093623 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 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_004526.4(MCM2):c.2102C>T (p.Ala701Val) rs149699620 0.00255
NM_004994.3(MMP9):c.559C>T (p.Leu187Phe) rs55789927 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=) rs147044660 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_004523.4(KIF11):c.1578C>A (p.His526Gln) rs112145870 0.00253
NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met) rs144662445 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316 0.00252
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) rs71524354 0.00252
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=) rs150812047 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_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_004357.5(CD151):c.240C>T (p.Cys80=) rs34726520 0.00248
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191 0.00248
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001853.4(COL9A3):c.1549-4C>A rs190389066 0.00247
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_004408.4(DNM1):c.1197-7C>T rs41306488 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022773.4(LMF1):c.1351C>T (p.Arg451Trp) rs138205062 0.00247
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_004074.3(COX8A):c.67C>T (p.Arg23Cys) rs144339685 0.00245
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_001080449.3(DNA2):c.720G>T (p.Leu240=) rs199878321 0.00242
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) rs876306 0.00242
NM_004447.6(EPS8):c.2230G>A (p.Val744Ile) rs77967764 0.00242
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 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_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr) rs111934716 0.00241
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_001375808.2(LPIN2):c.2327+11G>A rs148930095 0.00240
NM_001711.6(BGN):c.573C>T (p.Gly191=) rs148808913 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002979.5(SCP2):c.687T>C (p.Asp229=) rs80033039 0.00240
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 0.00240
NM_018896.5(CACNA1G):c.1925-10C>T rs139447235 0.00240
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) rs34397695 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 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_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_000179.3(MSH6):c.4002-28_4002-26dup rs200989473 0.00238
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_016343.4(CENPF):c.4289C>G (p.Ser1430Cys) rs76231205 0.00237
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) rs116609083 0.00237
NM_172107.4(KCNQ2):c.1763+47G>C rs77658489 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001291303.3(FAT4):c.1128G>A (p.Val376=) rs202216461 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 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_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980 0.00234
NM_022445.4(TPK1):c.663C>T (p.Tyr221=) rs113536847 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001377458.1(CLCC1):c.*2854T>C rs138132875 0.00233
NM_001378609.3(OTOGL):c.2394C>T (p.Phe798=) rs111695304 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=) rs34964168 0.00232
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001377299.1(NDUFS2):c.866+8G>A rs142594036 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) rs139533994 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 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_001372044.2(SHANK3):c.291-18G>A rs779140644 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_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_002608.4(PDGFB):c.262A>G (p.Ile88Val) rs17565 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly) rs199640717 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
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_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 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_003922.4(HERC1):c.9493G>T (p.Ala3165Ser) rs80032429 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_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 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_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_006506.5(RASA2):c.1020+20G>A rs113251297 0.00222
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001372044.2(SHANK3):c.4104C>T (p.Ser1368=) rs201793890 0.00221
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) rs199873924 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001039876.3(SYNE4):c.391G>A (p.Ala131Thr) rs200744016 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_001349338.3(FOXP1):c.181-13T>G rs139264797 0.00220
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447 0.00220
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_182914.3(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001040108.2(MLH3):c.3987+7C>A rs28757028 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=) rs113676921 0.00218
NM_001199397.3(NEK1):c.975A>G (p.Gly325=) rs150904906 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_001291303.3(FAT4):c.524G>T (p.Arg175Leu) rs143534324 0.00217
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_018109.4(MTPAP):c.1637G>A (p.Ser546Asn) rs17855116 0.00217
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_020312.4(COQ9):c.625C>G (p.Leu209Val) rs78846023 0.00217
NM_172362.3(KCNH1):c.2604G>A (p.Ala868=) rs1135318 0.00217
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_000236.3(LIPC):c.213G>A (p.Thr71=) rs113174258 0.00216
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001291303.3(FAT4):c.7787T>C (p.Leu2596Ser) rs111501860 0.00216
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_000834.5(GRIN2B):c.-18-10G>C rs146841522 0.00215
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 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_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) rs138816265 0.00210
NM_001286445.3(RIPOR2):c.2802C>T (p.Asn934=) rs185947117 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738 0.00210
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 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_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_005726.6(TSFM):c.24C>T (p.Arg8=) rs138461986 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000257.4(MYH7):c.1579-47C>T rs45525037 0.00208
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001303052.2(MYT1L):c.153-7T>A rs191453776 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_004526.4(MCM2):c.2689A>C (p.Arg897=) rs142055220 0.00208
NM_007118.4(TRIO):c.2928G>A (p.Gln976=) rs148506244 0.00208
NM_020988.3(GNAO1):c.654C>T (p.Asp218=) rs139322464 0.00208
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr) rs117661115 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 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_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_004526.4(MCM2):c.759G>A (p.Ala253=) rs35749886 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001101362.3(KBTBD13):c.214C>T (p.Leu72=) rs550537101 0.00205
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_002386.4(MC1R):c.792C>T (p.Ile264=) rs181269865 0.00205
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 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_004523.4(KIF11):c.2166T>G (p.Leu722=) rs147721514 0.00204
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529 0.00203
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00201
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=) rs61753684 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 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_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_005032.7(PLS3):c.925A>G (p.Ile309Val) rs140968059 0.00200
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu) rs143360018 0.00200
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_000041.4(APOE):c.137T>C (p.Leu46Pro) rs769452 0.00199
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_144672.4(OTOA):c.1522G>A (p.Val508Met) rs150415498 0.00199
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys) rs74411086 0.00198
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=) rs140978858 0.00198
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr) rs373158501 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_133379.5(TTN):c.10648C>T (p.Arg3550Trp) rs141407971 0.00198
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln) rs138077616 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
NM_139215.3(TAF15):c.1359T>C (p.Gly453=) rs1301559653 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_001374675.1(HSF4):c.636G>T (p.Met212Ile) rs199742128 0.00196
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_021072.4(HCN1):c.1783+4C>T rs188586020 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=) rs142709197 0.00195
NM_001135022.2(ELMOD3):c.397G>A (p.Ala133Thr) rs145555897 0.00195
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738 0.00195
NM_001377265.1(MAPT):c.1732+2364C>T rs187760483 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 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_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) rs139858268 0.00194
NM_018896.5(CACNA1G):c.3084C>T (p.His1028=) rs61741117 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 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_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_003611.3(OFD1):c.12+28G>C rs181620366 0.00193
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 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_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 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_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_001197104.2(KMT2A):c.10318A>G (p.Ile3440Val) rs117099452 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_012335.4(MYO1F):c.2508G>C (p.Glu836Asp) rs182601554 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_022455.5(NSD1):c.4378+26C>T rs139601377 0.00189
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001134407.3(GRIN2A):c.1122+16T>A rs149886469 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val) rs189463989 0.00185
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005413.4(SIX3):c.720G>T (p.Ala240=) rs191012035 0.00185
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_024876.4(COQ8B):c.663G>A (p.Gly221=) rs142414537 0.00185
NM_139242.4(MTFMT):c.847A>G (p.Ile283Val) rs114097513 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00184
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 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_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00183
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_173477.5(USH1G):c.501C>G (p.Arg167=) rs141688757 0.00182
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_004839.4(HOMER2):c.363C>T (p.Ile121=) rs11629943 0.00181
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg) rs114149334 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_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=) rs112305543 0.00180
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001365276.2(TNXB):c.4444G>A (p.Val1482Met) rs61740336 0.00179
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_007118.4(TRIO):c.9110A>T (p.Lys3037Met) rs55900671 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile) rs186687142 0.00178
NM_001039213.4(CEACAM16):c.96C>T (p.Ser32=) rs191552868 0.00178
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001197104.2(KMT2A):c.4254A>T (p.Gly1418=) rs147072909 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_032119.4(ADGRV1):c.8088G>A (p.Leu2696=) rs373069459 0.00178
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_000038.6(APC):c.-19+512G>A rs550306841 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 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_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115 0.00175
NM_007215.4(POLG2):c.927C>T (p.His309=) rs73332195 0.00175
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_198994.3(TGM6):c.502G>A (p.Val168Met) rs147494925 0.00175
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001271.4(CHD2):c.4592+18G>A rs116022337 0.00174
NM_002160.4(TNC):c.1322A>G (p.Asn441Ser) rs142220270 0.00174
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00174
NM_172362.3(KCNH1):c.2455T>A (p.Ser819Thr) rs139659266 0.00174
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001040716.2(PC):c.*13C>T rs58032722 0.00173
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004985.5(KRAS):c.-48G>A rs532564755 0.00173
NM_016138.5(COQ7):c.545A>G (p.His182Arg) rs139931303 0.00173
NM_018993.4(RIN2):c.1851C>T (p.Ala617=) rs180817901 0.00173
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_001332.4(CTNND2):c.2316G>A (p.Ser772=) rs148199852 0.00172
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984 0.00169
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) rs143895379 0.00169
NM_133379.5(TTN):c.14820G>A (p.Val4940=) rs145029589 0.00169
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_001458.5(FLNC):c.2390-9T>C rs368068407 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_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_014727.3(KMT2B):c.885C>T (p.Arg295=) rs200352707 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met) rs79804817 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) rs201309284 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004456.5(EZH2):c.1852-9A>G rs199654408 0.00166
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_015570.4(AUTS2):c.2820G>C (p.Pro940=) rs148406339 0.00166
NM_016628.5(WAC):c.1251G>A (p.Thr417=) rs34574547 0.00166
NM_018943.3(TUBA8):c.1173C>T (p.Leu391=) rs201432541 0.00166
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_001070.5(TUBG1):c.1275G>A (p.Arg425=) rs11538914 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=) rs183104951 0.00165
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00163
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) rs147235870 0.00163
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) rs140995438 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) rs372847627 0.00163
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) rs77812749 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys) rs143664462 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001083962.2(TCF4):c.1351-19G>A rs200963418 0.00162
NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) rs374363746 0.00162
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_014822.4(SEC24D):c.181C>A (p.Pro61Thr) rs143180885 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_018896.5(CACNA1G):c.4630C>A (p.Arg1544=) rs60532742 0.00161
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928 0.00161
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_014727.3(KMT2B):c.3276G>A (p.Ser1092=) rs199942615 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_018896.5(CACNA1G):c.3704G>A (p.Arg1235Gln) rs150972562 0.00160
NM_177438.3(DICER1):c.1753-43G>A rs74899136 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682 0.00159
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala) rs148156462 0.00159
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=) rs147739329 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_015459.5(ATL3):c.418C>T (p.Leu140=) rs34261014 0.00159
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661 0.00159
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_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001079855.2(GYG2):c.1139T>C (p.Ile380Thr) rs148872483 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_003672.4(CDC14A):c.822C>T (p.Ile274=) rs74667145 0.00158
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 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_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=) rs200952541 0.00157
NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=) rs148001847 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_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) rs372623686 0.00156
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_001267550.2(TTN):c.30598+15C>T rs79685525 0.00156
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met) rs191288058 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_000100.4(CSTB):c.*7C>G rs201576714 0.00155
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00155
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00155
NM_018896.5(CACNA1G):c.895G>A (p.Gly299Ser) rs201875227 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 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_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_007118.4(TRIO):c.5331C>T (p.Leu1777=) rs200595562 0.00153
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) rs141249927 0.00153
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_017780.4(CHD7):c.5051-25A>G rs185141793 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_025150.5(TARS2):c.562C>A (p.Leu188Ile) rs140418026 0.00153
NM_030665.4(RAI1):c.1656C>T (p.Ser552=) rs148309343 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001999.4(FBN2):c.953-8T>G rs201818403 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_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val) rs143852849 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_003280.3(TNNC1):c.203-5C>T rs142519988 0.00151
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584 0.00151
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_017775.4(TTC19):c.911G>C (p.Arg304Thr) rs73981411 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) rs61999270 0.00151
NM_133379.5(TTN):c.15228C>A (p.Pro5076=) rs143135505 0.00151
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 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_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp) rs148377014 0.00150
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001042517.2(DIAPH3):c.214-8C>G rs201265889 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_018896.5(CACNA1G):c.4084C>T (p.Leu1362=) rs374849749 0.00149
NM_033641.4(COL4A6):c.2409G>A (p.Gly803=) rs139372880 0.00149
NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=) rs144803723 0.00149
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001303052.2(MYT1L):c.2532G>A (p.Leu844=) rs191820268 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_003240.5(LEFTY2):c.169G>A (p.Val57Met) rs115510690 0.00148
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_006000.3(TUBA4A):c.270G>A (p.Glu90=) rs45571337 0.00148
NM_018896.5(CACNA1G):c.2001C>T (p.Cys667=) rs58207445 0.00148
NM_018896.5(CACNA1G):c.3691-6C>G rs182987793 0.00148
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 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_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 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_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_006284.4(TAF10):c.*1210C>T rs145172848 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_212482.4(FN1):c.4444C>T (p.Arg1482Cys) rs116558455 0.00146
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly) rs111941243 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_032119.4(ADGRV1):c.15669G>A (p.Gly5223=) rs61741955 0.00145
NM_181882.3(PRX):c.-114T>G rs367716653 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_002386.4(MC1R):c.67C>T (p.Gln23Ter) rs201533137 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 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_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_031475.3(ESPN):c.290T>A (p.Val97Glu) rs199562318 0.00143
NM_198999.3(SLC26A5):c.1590A>G (p.Lys530=) rs138432667 0.00143
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=) rs143400214 0.00142
NM_015713.5(RRM2B):c.48+48C>T rs201028777 0.00142
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_001130823.3(DNMT1):c.81-3C>T rs76503110 0.00141
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_007118.4(TRIO):c.34G>A (p.Ala12Thr) rs1045136451 0.00141
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 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_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_004958.4(MTOR):c.1830C>T (p.Phe610=) rs139687094 0.00140
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup) rs564202766 0.00140
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) rs77912754 0.00140
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00140
NM_022489.4(INF2):c.1281A>C (p.Pro427=) rs754332692 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_177559.3(CSNK2A1):c.*1C>T rs142680688 0.00140
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=) rs138613962 0.00139
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=) rs369165766 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=) rs182071786 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_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_030662.3(MAP2K2):c.*19C>T rs145743390 0.00138
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001372044.2(SHANK3):c.474G>T (p.Thr158=) rs530240325 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427 0.00137
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_031418.4(ANO3):c.2817A>G (p.Pro939=) rs150506041 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001332.4(CTNND2):c.594G>A (p.Thr198=) rs61749784 0.00136
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_002709.3(PPP1CB):c.27C>T (p.Asp9=) rs141050112 0.00136
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00136
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe) rs151290050 0.00136
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 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_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=) rs142579814 0.00135
NM_005276.4(GPD1):c.159C>A (p.Ile53=) rs151113100 0.00135
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_015559.3(SETBP1):c.1880G>A (p.Arg627His) rs138819848 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_144991.3(TSPEAR):c.1755-7C>T rs201717370 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_001134407.3(GRIN2A):c.-34C>A rs564039694 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=) rs147070468 0.00134
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_198129.4(LAMA3):c.8577A>T (p.Gly2859=) rs140184530 0.00134
NM_205836.3(FBXO38):c.2341C>T (p.Pro781Ser) rs116266000 0.00134
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000540.3(RYR1):c.7615-7G>A rs146159174 0.00133
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933 0.00133
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 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_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 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_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000390.4(CHM):c.1641G>T (p.Leu547=) rs148301015 0.00132
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) rs141250614 0.00132
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001130969.3(NSMF):c.71+9G>A rs587781103 0.00131
NM_001372044.2(SHANK3):c.2436C>T (p.Ala812=) rs61729465 0.00131
NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile) rs146499414 0.00131
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548 0.00131
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_003722.5(TP63):c.580-11A>T rs148217164 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro) rs143257313 0.00131
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225 0.00131
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_212482.4(FN1):c.751A>T (p.Asn251Tyr) rs55822567 0.00130
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_001303052.2(MYT1L):c.2922C>T (p.Ser974=) rs200125635 0.00129
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) rs143519179 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_133379.5(TTN):c.14214C>T (p.Thr4738=) rs147513899 0.00129
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055 0.00129
NM_000143.4(FH):c.1237-18T>A rs202206776 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633 0.00128
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) rs35724152 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_144573.4(NEXN):c.156C>T (p.Asp52=) rs371431782 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_018684.4(ZC4H2):c.592C>A (p.Arg198=) rs137962226 0.00127
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_001199107.2(TBC1D24):c.-7C>T rs199852092 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00126
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_144991.3(TSPEAR):c.415G>A (p.Gly139Ser) rs148095760 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 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_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_019074.4(DLL4):c.672G>A (p.Ser224=) rs61757617 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 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_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) rs117270099 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_001130823.3(DNMT1):c.768+18C>A rs200380915 0.00123
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001374828.1(ARID1B):c.210T>G (p.Ser70Arg) rs1042875011 0.00123
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_002887.4(RARS1):c.1127T>A (p.Val376Glu) rs146939849 0.00123
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407 0.00123
NM_016065.4(MRPS16):c.112C>A (p.His38Asn) rs116157972 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_001267550.2(TTN):c.25134A>G (p.Ala8378=) rs371819104 0.00122
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=) rs5743392 0.00122
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr) rs929861388 0.00122
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_006767.4(LZTR1):c.666C>T (p.Gly222=) rs35767542 0.00122
NM_007118.4(TRIO):c.3639T>C (p.His1213=) rs140850570 0.00122
NM_014727.3(KMT2B):c.7185G>A (p.Glu2395=) rs138094783 0.00122
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140 0.00121
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001378609.3(OTOGL):c.3513C>T (p.Gly1171=) rs145834039 0.00121
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00121
NM_020117.11(LARS1):c.3336A>G (p.Lys1112=) rs141790396 0.00121
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 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_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_001197104.2(KMT2A):c.11505T>G (p.Gly3835=) rs142948344 0.00120
NM_001458.5(FLNC):c.2180G>A (p.Arg727His) rs200618242 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_002471.4(MYH6):c.*8T>C rs201560522 0.00120
NM_002635.4(SLC25A3):c.595T>C (p.Leu199=) rs113045059 0.00120
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341 0.00119
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=) rs138452825 0.00119
NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=) rs149518384 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001003800.2(BICD2):c.1806G>A (p.Thr602=) rs138300993 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_001197104.2(KMT2A):c.5631G>A (p.Ala1877=) rs147764171 0.00118
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=) rs375338599 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_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) rs151184052 0.00118
NM_030665.4(RAI1):c.223G>T (p.Ala75Ser) rs566875015 0.00118
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_007118.4(TRIO):c.67G>A (p.Ala23Thr) rs566570633 0.00117
NM_007118.4(TRIO):c.7166C>T (p.Ala2389Val) rs533386148 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln) rs117204561 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001759.4(CCND2):c.785G>A (p.Arg262His) rs142170178 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_018943.3(TUBA8):c.324C>T (p.Tyr108=) rs2234327 0.00115
NM_030770.4(TMPRSS5):c.976G>T (p.Ala326Ser) rs117055692 0.00115
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001039591.3(USP9X):c.7218+6G>C rs377317888 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=) rs183395195 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_004736.4(XPR1):c.921G>A (p.Pro307=) rs151270778 0.00114
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_018444.4(PDP1):c.906C>T (p.Asp302=) rs138488258 0.00114
NM_033337.3(CAV3):c.*20G>A rs137946394 0.00114
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643 0.00113
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000304.4(PMP22):c.-6G>T rs369779295 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln) rs201406071 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp) rs144768563 0.00113
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_001372044.2(SHANK3):c.3114G>C (p.Ala1038=) rs772152761 0.00113
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.2745A>C (p.Thr915=) rs149922633 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_004522.3(KIF5C):c.2394G>A (p.Leu798=) rs184488465 0.00113
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648 0.00113
NM_007118.4(TRIO):c.2889C>T (p.Ser963=) rs10064745 0.00113
NM_015087.5(SPART):c.75A>G (p.Leu25=) rs148399669 0.00113
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=) rs147494935 0.00113
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001377265.1(MAPT):c.912C>G (p.Pro304=) rs142327009 0.00112
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00112
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_001372044.2(SHANK3):c.1635C>T (p.Ala545=) rs780922475 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_002472.3(MYH8):c.143C>T (p.Ser48Phe) rs146669648 0.00111
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 0.00111
NM_004958.4(MTOR):c.7089+9A>G rs185470535 0.00111
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_001197104.2(KMT2A):c.10547G>A (p.Gly3516Glu) rs149137886 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967 0.00110
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_002641.4(PIGA):c.*7G>T rs142178534 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
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_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 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_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646 0.00109
NM_015488.5(PNKD):c.236+1069G>A rs201303528 0.00109
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=) rs58914363 0.00108
NM_002529.4(NTRK1):c.212+10C>T rs183517027 0.00108
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_015713.5(RRM2B):c.48+96G>C rs200373694 0.00108
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 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_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 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_001303052.2(MYT1L):c.1512C>T (p.Ser504=) rs148988262 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_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 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_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_031407.7(HUWE1):c.12137+9C>T rs186915283 0.00107
NM_201596.3(CACNB2):c.354G>A (p.Ala118=) rs182163363 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 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.41958A>G (p.Ala13986=) rs186699871 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_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_005472.5(KCNE3):c.-190+18C>T rs547401786 0.00106
NM_006005.3(WFS1):c.96G>A (p.Ser32=) rs71539660 0.00106
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_139076.3(ABRAXAS1):c.-4T>C rs202166386 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=) rs183065185 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_006063.3(KLHL41):c.398G>A (p.Gly133Asp) rs147294651 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001080517.3(SETD5):c.2347-14C>T rs200975171 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.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) rs112848043 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_007118.4(TRIO):c.6836-3C>T rs373420044 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=) rs145570974 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=) rs149459768 0.00103
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.49998T>C (p.Asn16666=) rs376917681 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_003672.4(CDC14A):c.1034G>A (p.Arg345Gln) rs28364897 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_015570.4(AUTS2):c.865A>G (p.Ile289Val) rs148610030 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_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 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_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_032578.4(MYPN):c.1122G>A (p.Glu374=) rs145103325 0.00101
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_177559.3(CSNK2A1):c.369A>G (p.Gln123=) rs143151604 0.00101
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=) rs34869625 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_014317.5(PDSS1):c.130-10G>T rs551306397 0.00099
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_005045.4(RELN):c.4748-11T>C rs201494847 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_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_016038.4(SBDS):c.183T>C (p.Ser61=) rs200346194 0.00098
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn) rs149404438 0.00097
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) rs146529487 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=) rs558301893 0.00097
NM_018896.5(CACNA1G):c.858C>A (p.Pro286=) rs56885413 0.00097
NM_080916.3(DGUOK):c.142+9C>T rs377000908 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_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001257180.2(SLC20A2):c.1198G>A (p.Ala400Thr) rs116194858 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 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_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_003482.4(KMT2D):c.3666C>T (p.Gly1222=) rs138419124 0.00096
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_005726.6(TSFM):c.117T>A (p.Arg39=) rs147609698 0.00096
NM_006009.4(TUBA1A):c.786T>C (p.Tyr262=) rs762008241 0.00096
NM_006772.3(SYNGAP1):c.296-8C>T rs201145910 0.00096
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg) rs145415643 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 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_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001205254.2(OCLN):c.455C>T (p.Ala152Val) rs142569075 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 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_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 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_001372044.2(SHANK3):c.4410C>T (p.Thr1470=) rs376136109 0.00094
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=) rs141697521 0.00094
NM_017780.4(CHD7):c.6989G>C (p.Gly2330Ala) rs77704609 0.00094
NM_017780.4(CHD7):c.6990C>T (p.Gly2330=) rs559382275 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_139215.3(TAF15):c.660C>T (p.Pro220=) rs138790468 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000168.6(GLI3):c.*9A>G rs187024593 0.00093
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) rs61745146 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_001271.4(CHD2):c.2973+4A>G rs202244266 0.00093
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_004408.4(DNM1):c.450C>G (p.Pro150=) rs143834670 0.00093
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_020822.3(KCNT1):c.985C>T (p.Leu329=) rs147165522 0.00093
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001372044.2(SHANK3):c.2220-36T>C rs201640074 0.00092
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) rs149158671 0.00092
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001144967.3(NEDD4L):c.813+5G>A rs199959002 0.00091
NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=) rs140142437 0.00091
NM_004447.6(EPS8):c.1083G>A (p.Leu361=) rs76040570 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384 0.00091
NM_007325.5(GRIA3):c.159T>C (p.Phe53=) rs145583732 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020971.3(SPTBN4):c.1665+8del rs201197553 0.00091
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00091
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_139242.4(MTFMT):c.396G>A (p.Glu132=) rs139698971 0.00091
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_052865.4(MGME1):c.86C>G (p.Ser29Cys) rs143811282 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=) rs146425138 0.00089
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638 0.00089
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_004247.4(EFTUD2):c.133G>A (p.Val45Ile) rs150335245 0.00089
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_007118.4(TRIO):c.8211-5C>T rs200548316 0.00089
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_033163.5(FGF8):c.582G>A (p.Thr194=) rs147342890 0.00089
NM_145261.4(DNAJC19):c.-29G>T rs181271620 0.00089
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000744.7(CHRNA4):c.1160A>G (p.Glu387Gly) rs45604738 0.00088
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731 0.00088
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491 0.00088
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_001372044.2(SHANK3):c.996-7C>G rs371172305 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616 0.00088
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_001039141.3(TRIOBP):c.1132C>T (p.Pro378Ser) rs183024099 0.00087
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578 0.00087
NM_001372044.2(SHANK3):c.2300+10G>A rs202200715 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_018896.5(CACNA1G):c.2069G>A (p.Ser690Asn) rs61453167 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_001069.3(TUBB2A):c.609T>C (p.Asp203=) rs11550258 0.00086
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile) rs79925540 0.00086
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 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_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu) rs202216051 0.00086
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_139215.3(TAF15):c.726G>A (p.Gly242=) rs144851351 0.00086
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=) rs202047755 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000834.5(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818 0.00085
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_001374828.1(ARID1B):c.852G>A (p.Glu284=) rs564924707 0.00085
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_002472.3(MYH8):c.4042G>A (p.Glu1348Lys) rs140562514 0.00085
NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_004958.4(MTOR):c.2301C>T (p.Leu767=) rs149428637 0.00085
NM_006009.4(TUBA1A):c.1044C>T (p.Pro348=) rs144574983 0.00085
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001243133.2(NLRP3):c.2151-7T>C rs116546330 0.00084
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=) rs377751542 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_014727.3(KMT2B):c.3867G>A (p.Thr1289=) rs146372727 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_024407.5(NDUFS7):c.146C>G (p.Ala49Gly) rs11551666 0.00084
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=) rs144151433 0.00083
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003477.3(PDHX):c.1503C>T (p.Ala501=) rs151049569 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala) rs201401760 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_174934.4(SCN4B):c.480C>T (p.Asn160=) rs72546675 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=) rs61737042 0.00082
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=) rs529402949 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_015488.5(PNKD):c.835C>T (p.Leu279=) rs149643391 0.00082
NM_018896.5(CACNA1G):c.2043C>T (p.Ala681=) rs368524369 0.00082
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_030632.3(ASXL3):c.3391C>T (p.Pro1131Ser) rs189035129 0.00082
NM_177559.3(CSNK2A1):c.132A>G (p.Lys44=) rs112149740 0.00082
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000214.3(JAG1):c.439+10G>A rs201371037 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_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=) rs147952562 0.00081
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) rs146496080 0.00081
NM_007118.4(TRIO):c.558A>G (p.Leu186=) rs141383076 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00081
NM_017780.4(CHD7):c.2835+24A>T rs201381395 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_000238.4(KCNH2):c.2398+178C>T rs41314366 0.00080
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00080
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 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_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00080
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_005458.8(GABBR2):c.1473C>T (p.Leu491=) rs144313756 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_019066.5(MAGEL2):c.687G>A (p.Met229Ile) rs574367928 0.00080
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_172362.3(KCNH1):c.2823C>T (p.Asn941=) rs143091808 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_001018005.2(TPM1):c.115-262C>T rs74573041 0.00079
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00079
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) rs138971201 0.00079
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_001032221.6(STXBP1):c.6C>T (p.Ala2=) rs144094037 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002878.4(RAD51D):c.263+1570T>A rs376472075 0.00078
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_030665.4(RAI1):c.301G>A (p.Gly101Ser) rs145801481 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) rs201681772 0.00078
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000455.5(STK11):c.*16+10G>A rs587781180 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001830.4(CLCN4):c.1548C>T (p.Tyr516=) rs111332758 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_144573.4(NEXN):c.777A>G (p.Gln259=) rs375544798 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658 0.00076
NM_001197104.2(KMT2A):c.10475C>T (p.Ala3492Val) rs145249825 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_001759.4(CCND2):c.114T>G (p.Leu38=) rs146122734 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 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_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_018444.4(PDP1):c.1431C>T (p.Asn477=) rs147477305 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro) rs201872027 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_001144967.3(NEDD4L):c.1980T>C (p.Tyr660=) rs202013710 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275 0.00075
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_001330078.2(NRXN1):c.3365-109830G>A rs148517834 0.00074
NM_001371928.1(AHDC1):c.726C>T (p.Ala242=) rs142598186 0.00074
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00074
NM_001759.4(CCND2):c.756G>A (p.Ala252=) rs145050894 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_004187.5(KDM5C):c.408G>C (p.Arg136=) rs149293316 0.00074
NM_004523.4(KIF11):c.2512A>C (p.Asn838His) rs34647366 0.00074
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000742.4(CHRNA2):c.684C>T (p.Ser228=) rs143536618 0.00073
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001042475.3(CEP85L):c.1020+6663G>A rs189611501 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001356.5(DDX3X):c.969T>C (p.Thr323=) rs368366114 0.00073
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
NM_001371928.1(AHDC1):c.489A>G (p.Leu163=) rs142502245 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001943.5(DSG2):c.216+16G>A rs200239610 0.00073
NM_002472.3(MYH8):c.430G>C (p.Ala144Pro) rs138262102 0.00073
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00073
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) rs527691624 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_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_212482.4(FN1):c.3517+3A>G rs201910111 0.00073
NM_000249.4(MLH1):c.2104-11G>A rs147984696 0.00072
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=) rs375018770 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_030632.3(ASXL3):c.621A>T (p.Ala207=) rs201134613 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955 0.00071
NM_000257.4(MYH7):c.2553C>A (p.Ser851=) rs144291282 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 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_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001197104.2(KMT2A):c.7304C>G (p.Ser2435Cys) rs76721917 0.00071
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00071
NM_001267550.2(TTN):c.40786+15C>A rs187582271 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001267550.2(TTN):c.52406-16G>A rs372221219 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268 0.00071
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585 0.00071
NM_018896.5(CACNA1G):c.1818A>G (p.Ala606=) rs375580888 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004655.4(AXIN2):c.1545C>T (p.His515=) rs139316692 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_018444.4(PDP1):c.717C>G (p.Ala239=) rs150112501 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_030632.3(ASXL3):c.3124T>C (p.Ser1042Pro) rs201364738 0.00070
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 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_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592 0.00069
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly) rs8179206 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_006565.4(CTCF):c.1986C>G (p.Pro662=) rs148681672 0.00069
NM_007118.4(TRIO):c.3276C>T (p.Ser1092=) rs145133665 0.00069
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) rs148979787 0.00069
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000834.5(GRIN2B):c.1780+8C>T rs199986080 0.00068
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=) rs182225778 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001347721.2(DYRK1A):c.1644+73C>A rs200322053 0.00068
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val) rs530780611 0.00068
NM_001376256.1(CRYM):c.820G>C (p.Glu274Gln) rs150970942 0.00068
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 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_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_006766.5(KAT6A):c.1029G>T (p.Lys343Asn) rs35529154 0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_020822.3(KCNT1):c.601-13C>G rs202113794 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_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) rs763446458 0.00067
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 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_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_001349338.3(FOXP1):c.1825G>A (p.Ala609Thr) rs147537388 0.00067
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=) rs147707628 0.00067
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_003334.4(UBA1):c.648A>G (p.Pro216=) rs146676571 0.00067
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_020699.4(GATAD2B):c.852T>C (p.Leu284=) rs149608942 0.00067
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001332.4(CTNND2):c.2001C>T (p.Cys667=) rs149766664 0.00066
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_004456.5(EZH2):c.625+5G>A rs143615322 0.00066
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_007118.4(TRIO):c.2874+6G>A rs151138656 0.00066
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821 0.00066
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) rs141234076 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_052874.5(STX1B):c.837G>A (p.Ala279=) rs150313069 0.00066
NM_139215.3(TAF15):c.1332C>T (p.Gly444=) rs150034643 0.00066
NM_000350.3(ABCA4):c.1356+11_1356+12insG rs1557794244 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=) rs147194783 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001039141.3(TRIOBP):c.2992G>A (p.Ala998Thr) rs200019928 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001148.6(ANK2):c.261G>A (p.Gly87=) rs145502481 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_001372044.2(SHANK3):c.4223T>G (p.Val1408Gly) rs200087210 0.00064
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_004736.4(XPR1):c.1723A>G (p.Ile575Val) rs147941113 0.00064
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) rs143712699 0.00064
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=) rs149626938 0.00064
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559 0.00063
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met) rs199827465 0.00063
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) rs112652769 0.00063
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_007118.4(TRIO):c.4218C>T (p.Asp1406=) rs114288472 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018896.5(CACNA1G):c.1879G>A (p.Gly627Arg) rs200317339 0.00063
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_033360.4(KRAS):c.-48_-29dup rs730880342 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_015570.4(AUTS2):c.349C>T (p.Arg117Cys) rs142957106 0.00062
NM_020778.5(ALPK3):c.135C>T (p.Pro45=) rs369591811 0.00062
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_001003800.2(BICD2):c.2397C>T (p.Leu799=) rs151133287 0.00061
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=) rs372607441 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_001303052.2(MYT1L):c.2571C>T (p.Pro857=) rs368649268 0.00061
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=) rs369467920 0.00061
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 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_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu) rs565435346 0.00061
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=) rs139569820 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_004526.4(MCM2):c.398G>A (p.Arg133His) rs34997321 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_030665.4(RAI1):c.303C>T (p.Gly101=) rs143836684 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=) rs142595450 0.00059
NM_001035.3(RYR2):c.11092-10A>T rs577119352 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_001170629.2(CHD8):c.3882+6T>C rs373037739 0.00059
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val) rs150835546 0.00059
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_001866.3(COX7B):c.165+10A>G rs188684470 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 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_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00059
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00059
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=) rs371181408 0.00059
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=) rs140896887 0.00059
NM_133261.3(GIPC3):c.207C>T (p.Phe69=) rs727504653 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689 0.00058
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001142800.2(EYS):c.1599+13T>C rs182876572 0.00058
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001271696.3(ABCB7):c.1174A>G (p.Ile392Val) rs139311518 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val) rs150687712 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004958.4(MTOR):c.7158T>C (p.Ala2386=) rs143035002 0.00058
NM_006015.6(ARID1A):c.4563C>T (p.Pro1521=) rs149095176 0.00058
NM_006766.5(KAT6A):c.1741-10A>G rs189761822 0.00058
NM_014727.3(KMT2B):c.454C>T (p.Arg152Trp) rs200918556 0.00058
NM_015100.4(POGZ):c.2559A>G (p.Ile853Met) rs150453554 0.00058
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser) rs78119534 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=) rs143794200 0.00057
NM_001378030.1(CCDC78):c.1302-8C>A rs201006875 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) rs139458439 0.00057
NM_007118.4(TRIO):c.1217A>G (p.Asn406Ser) rs138722140 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=) rs34206150 0.00057
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=) rs34383407 0.00057
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000136.3(FANCC):c.1329+111C>T rs527823099 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_004958.4(MTOR):c.2472C>T (p.Ile824=) rs138875882 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_007118.4(TRIO):c.5004C>T (p.Thr1668=) rs149477759 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_014727.3(KMT2B):c.6051C>T (p.His2017=) rs374561411 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_139215.3(TAF15):c.1163G>A (p.Arg388His) rs140268553 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_000257.4(MYH7):c.2163-16A>T rs199538267 0.00055
NM_000350.3(ABCA4):c.3050+16A>G rs111546154 0.00055
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076 0.00055
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725 0.00055
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln) rs2480373 0.00055
NM_001267550.2(TTN):c.44548+9A>G rs372725070 0.00055
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
NM_004958.4(MTOR):c.3153G>A (p.Thr1051=) rs147272284 0.00055
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln) rs139283183 0.00055
NM_015559.3(SETBP1):c.3790T>G (p.Ser1264Ala) rs141108624 0.00055
NM_015559.3(SETBP1):c.3808G>A (p.Gly1270Ser) rs142834327 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_018109.4(MTPAP):c.1278T>C (p.Ser426=) rs147355590 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
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_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001148.6(ANK2):c.2900+5135G>A rs139641776 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu) rs144732570 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005654.6(NR2F1):c.237G>C (p.Gln79His) rs199844882 0.00054
NM_006579.3(EBP):c.512G>A (p.Arg171His) rs144209735 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_016628.5(WAC):c.1391C>T (p.Pro464Leu) rs138875504 0.00054
NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser) rs150355410 0.00054
NM_031407.7(HUWE1):c.1242+4C>T rs377286362 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) rs140951214 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr) rs192725607 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=) rs140384223 0.00053
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_004958.4(MTOR):c.5187G>T (p.Gln1729His) rs140288227 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479 0.00053
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456 0.00053
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_172362.3(KCNH1):c.79_79+3dup rs777147129 0.00053
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000548.5(TSC2):c.2640-13C>T rs201184637 0.00052
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=) rs533812435 0.00052
NM_001144967.3(NEDD4L):c.49-6T>C rs375043092 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn) rs146401682 0.00052
NM_002547.3(OPHN1):c.237T>C (p.Asp79=) rs143062911 0.00052
NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) rs189571290 0.00052
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414 0.00052
NM_004523.4(KIF11):c.1996G>A (p.Asp666Asn) rs201047452 0.00052
NM_004958.4(MTOR):c.7593A>G (p.Gln2531=) rs149314441 0.00052
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=) rs145674759 0.00052
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_198076.6(COX20):c.87C>T (p.Cys29=) rs140032239 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
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_000071.3(CBS):c.829-14C>T rs370697155 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.3815-20C>T rs201878712 0.00051
NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg) rs146751925 0.00051
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_001005242.3(PKP2):c.2168-6T>C rs368531764 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr) rs185533207 0.00051
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690 0.00051
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln) rs199527867 0.00051
NM_001374828.1(ARID1B):c.3214G>A (p.Ala1072Thr) rs527731946 0.00051
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) rs200429063 0.00051
NM_004247.4(EFTUD2):c.1608-17A>T rs373063662 0.00051
NM_004247.4(EFTUD2):c.994+7G>A rs374041284 0.00051
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=) rs139304559 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_015570.4(AUTS2):c.1659C>T (p.Thr553=) rs146990635 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) rs113207069 0.00051
NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg) rs61729759 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046 0.00050
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) rs139241892 0.00050
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001282531.3(ADNP):c.909G>A (p.Met303Ile) rs141172488 0.00050
NM_001320752.2(STS):c.1157G>C (p.Gly386Ala) rs780720545 0.00050
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro) rs150289747 0.00050
NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001457.4(FLNB):c.6680C>G (p.Ser2227Cys) rs138327769 0.00050
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_006245.4(PPP2R5D):c.1558C>T (p.Pro520Ser) rs139183911 0.00050
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=) rs138091242 0.00050
NM_020117.11(LARS1):c.294+9G>A rs375149812 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531 0.00049
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000465.4(BARD1):c.215+12C>T rs373816832 0.00049
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=) rs117886618 0.00049
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750 0.00049
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001349253.2(SCN11A):c.1843-10C>A rs200533903 0.00049
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735 0.00049
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_020297.4(ABCC9):c.4512+16C>T rs376147813 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=) rs145809648 0.00048
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214 0.00048
NM_000702.4(ATP1A2):c.1470C>T (p.Ile490=) rs111405592 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) rs369673473 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) rs201979429 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu) rs200322209 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 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_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_003068.5(SNAI2):c.365C>T (p.Ala122Val) rs181954619 0.00048
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_004281.4(BAG3):c.855G>A (p.Thr285=) rs147259596 0.00048
NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala) rs143577999 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006284.4(TAF10):c.*1629G>A rs149710421 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_016213.5(TRIP4):c.1305G>C (p.Trp435Cys) rs113596176 0.00048
NM_017827.4(SARS2):c.576C>T (p.Val192=) rs150249937 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018129.4(PNPO):c.723C>G (p.Ser241=) rs144362146 0.00048
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_022552.5(DNMT3A):c.-6G>A rs148146288 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=) rs11571832 0.00047
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001039591.3(USP9X):c.4668C>T (p.Phe1556=) rs377596178 0.00047
NM_001065.4(TNFRSF1A):c.987C>T (p.Leu329=) rs138261783 0.00047
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val) rs200469194 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00047
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428 0.00047
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=) rs139824241 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_016929.5(CLIC5):c.425C>T (p.Thr142Ile) rs141036777 0.00047
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.3655+54A>G rs587664838 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001112741.2(KCNC1):c.1504+29C>T rs139606715 0.00046
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001374828.1(ARID1B):c.2815G>A (p.Gly939Ser) rs145635490 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_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.4072-245C>T rs140237546 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=) rs377647192 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) rs141930257 0.00046
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_018026.4(PACS1):c.104A>C (p.Gln35Pro) rs369233658 0.00046
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00046
NM_024757.5(EHMT1):c.85+35G>A rs151087743 0.00046
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_144991.3(TSPEAR):c.357C>T (p.Leu119=) rs149493344 0.00046
NM_152274.5(CCNQ):c.348A>G (p.Glu116=) rs142632816 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=) rs138439272 0.00046
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) rs146777271 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000350.3(ABCA4):c.5196+20G>A rs55715124 0.00045
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys) rs140350483 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr) rs773503365 0.00045
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val) rs199885694 0.00045
NM_001242896.3(DEPDC5):c.2354+48G>A rs199622220 0.00045
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=) rs139852370 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=) rs573877174 0.00045
NM_001303052.2(MYT1L):c.915C>T (p.Pro305=) rs183694893 0.00045
NM_001372044.2(SHANK3):c.708C>T (p.Asn236=) rs79762996 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_005458.8(GABBR2):c.51A>G (p.Pro17=) rs893078508 0.00045
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp) rs144759014 0.00045
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=) rs376468392 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_018896.5(CACNA1G):c.4155C>G (p.Thr1385=) rs201226731 0.00045
NM_020320.5(RARS2):c.975-14C>T rs199941996 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) rs138593265 0.00045
NM_212482.4(FN1):c.887C>T (p.Pro296Leu) rs145123731 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00044
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00044
NM_001003800.2(BICD2):c.1050G>A (p.Gln350=) rs368860496 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001197104.2(KMT2A):c.3684C>T (p.Ser1228=) rs369529777 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001349338.3(FOXP1):c.1333G>A (p.Val445Met) rs147756430 0.00044
NM_002547.3(OPHN1):c.1506T>A (p.Leu502=) rs142413712 0.00044
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_006059.4(LAMC3):c.480C>T (p.Tyr160=) rs140728983 0.00044
NM_007118.4(TRIO):c.1054-7C>T rs4702026 0.00044
NM_007118.4(TRIO):c.960G>A (p.Ser320=) rs372630442 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00044
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015559.3(SETBP1):c.4728A>G (p.Glu1576=) rs372933465 0.00044
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_016628.5(WAC):c.284A>G (p.Tyr95Cys) rs142450615 0.00044
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_030665.4(RAI1):c.1866C>T (p.Ala622=) rs143944475 0.00044
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000834.5(GRIN2B):c.3389G>A (p.Arg1130Gln) rs148625092 0.00043
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) rs112932810 0.00043
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001039591.3(USP9X):c.5924C>G (p.Thr1975Ser) rs185398631 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_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34856-17A>G rs188686309 0.00043
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_031418.4(ANO3):c.1915C>T (p.Leu639=) rs149866447 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748 0.00043
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001374828.1(ARID1B):c.4989C>T (p.Tyr1663=) rs2068129 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_003482.4(KMT2D):c.3181G>T (p.Val1061Leu) rs200450910 0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_020117.11(LARS1):c.3097-11C>T rs201352065 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14616C>T (p.Ser4872=) rs148105798 0.00042
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=) rs150239180 0.00041
NM_000834.5(GRIN2B):c.812C>T (p.Ala271Val) rs138098032 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=) rs373311745 0.00041
NM_001347721.2(DYRK1A):c.234C>T (p.Asp78=) rs1049764 0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser) rs557426457 0.00041
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=) rs144396385 0.00041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=) rs143241534 0.00041
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_003482.4(KMT2D):c.3180G>T (p.Lys1060Asn) rs201568916 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_006015.6(ARID1A):c.4560C>T (p.Gly1520=) rs138023869 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_030665.4(RAI1):c.2622A>G (p.Leu874=) rs140455907 0.00041
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 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_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001098511.3(KIF2A):c.1737C>T (p.Asp579=) rs200042213 0.00040
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999 0.00040
NM_001148.6(ANK2):c.198C>T (p.Asn66=) rs146964054 0.00040
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718 0.00040
NM_001303052.2(MYT1L):c.1410G>A (p.Pro470=) rs373769933 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_001458.5(FLNC):c.2266-3C>T rs369153392 0.00040
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004247.4(EFTUD2):c.1143C>T (p.Leu381=) rs144203374 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_015100.4(POGZ):c.70G>A (p.Val24Ile) rs144510238 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 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_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001170629.2(CHD8):c.3714+4A>G rs191258109 0.00039
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) rs116974302 0.00039
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_002470.4(MYH3):c.1350G>A (p.Thr450=) rs141874357 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_005458.8(GABBR2):c.*7G>A rs370717972 0.00039
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=) rs143212958 0.00039
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_020745.4(AARS2):c.895-16C>T rs199695987 0.00039
NM_024120.5(NDUFAF5):c.450T>C (p.Asn150=) rs146324749 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001008537.3(NEXMIF):c.2505C>T (p.His835=) rs143453497 0.00038
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001144967.3(NEDD4L):c.777_782dup (p.260_261EP[3]) rs539430057 0.00038
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 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_001235.5(SERPINH1):c.188C>T (p.Ala63Val) rs576480194 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn) rs61735410 0.00038
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_006766.5(KAT6A):c.2373A>C (p.Glu791Asp) rs201345009 0.00038
NM_007118.4(TRIO):c.7871G>A (p.Gly2624Glu) rs149134122 0.00038
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) rs145465364 0.00038
NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=) rs369994676 0.00038
NM_198999.3(SLC26A5):c.2042-5A>G rs188738404 0.00038
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_001039591.3(USP9X):c.2996A>G (p.Asn999Ser) rs200361970 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=) rs371969641 0.00037
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=) rs149713889 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_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001972.4(ELANE):c.654C>T (p.Phe218=) rs148492780 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_007118.4(TRIO):c.8359A>T (p.Thr2787Ser) rs144114662 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_014727.3(KMT2B):c.2489C>A (p.Ala830Asp) rs201691099 0.00037
NM_020699.4(GATAD2B):c.240C>T (p.Asn80=) rs180690623 0.00037
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 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_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=) rs114815696 0.00036
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001197104.2(KMT2A):c.5733G>A (p.Ala1911=) rs151337923 0.00036
NM_001197104.2(KMT2A):c.7983G>C (p.Lys2661Asn) rs142807735 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_003482.4(KMT2D):c.10392G>A (p.Gly3464=) rs367726813 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003482.4(KMT2D):c.711G>A (p.Glu237=) rs192397485 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=) rs187284437 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004958.4(MTOR):c.4470-3C>T rs201255391 0.00036
NM_004958.4(MTOR):c.482A>G (p.Asn161Ser) rs151205593 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_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) rs111806051 0.00036
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367 0.00036
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) rs138267399 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972 0.00036
NM_030632.3(ASXL3):c.1890G>A (p.Gly630=) rs372179902 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 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_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966 0.00035
NM_001080517.3(SETD5):c.959+9G>A rs145218854 0.00035
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228 0.00035
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=) rs148055910 0.00035
NM_001197104.2(KMT2A):c.2943A>G (p.Pro981=) rs146028064 0.00035
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004958.4(MTOR):c.3802-4A>G rs74052909 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_015488.5(PNKD):c.781+12C>T rs370963150 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626 0.00035
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 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_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001142800.2(EYS):c.2259+20T>C rs187199454 0.00034
NM_001197104.2(KMT2A):c.8307T>C (p.His2769=) rs148437955 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001303052.2(MYT1L):c.1422C>T (p.Pro474=) rs199944271 0.00034
NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003482.4(KMT2D):c.11826A>G (p.Gln3942=) rs112586166 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_004958.4(MTOR):c.6819G>A (p.Pro2273=) rs138151561 0.00034
NM_004958.4(MTOR):c.7401C>G (p.Ala2467=) rs151027751 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) rs202178663 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe) rs554705536 0.00034
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 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_030632.3(ASXL3):c.990A>G (p.Pro330=) rs375974767 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_001037.5(SCN1B):c.448+320C>T rs570257058 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys) rs200113695 0.00033
NM_001372044.2(SHANK3):c.2799C>T (p.Gly933=) rs907713706 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_004006.3(DMD):c.10836C>T (p.Ser3612=) rs148590546 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_006086.4(TUBB3):c.507C>T (p.Val169=) rs373718068 0.00033
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_030632.3(ASXL3):c.4470C>T (p.Ser1490=) rs185893902 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000335.5(SCN5A):c.858G>A (p.Ala286=) rs368460145 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319 0.00032
NM_001039141.3(TRIOBP):c.5764C>T (p.Arg1922Trp) rs183941928 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=) rs138313387 0.00032
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001458.5(FLNC):c.2568C>T (p.Pro856=) rs201611050 0.00032
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004006.3(DMD):c.94-9T>A rs3764764 0.00032
NM_004187.5(KDM5C):c.2529G>T (p.Val843=) rs142191000 0.00032
NM_004484.4(GPC3):c.1254C>T (p.Asn418=) rs150766741 0.00032
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala) rs151074395 0.00032
NM_006757.4(TNNT3):c.481-5T>C rs372620292 0.00032
NM_006766.5(KAT6A):c.1364-11T>C rs1475008472 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His) rs202148411 0.00032
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=) rs115301935 0.00032
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353 0.00032
NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) rs200173000 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846 0.00032
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738 0.00032
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) rs369975097 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_001018005.2(TPM1):c.177A>G (p.Lys59=) rs149346709 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949 0.00031
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322 0.00031
NM_001282531.3(ADNP):c.535A>G (p.Ile179Val) rs144798768 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=) rs370692975 0.00031
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101 0.00031
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005751.5(AKAP9):c.948A>G (p.Val316=) rs767404316 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006015.6(ARID1A):c.2298G>A (p.Gln766=) rs572510196 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_006766.5(KAT6A):c.3242C>G (p.Pro1081Arg) rs143819823 0.00031
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) rs376231865 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) rs138005965 0.00031
NM_015294.6(TRIM37):c.1754-3C>T rs373120070 0.00031
NM_018109.4(MTPAP):c.1312+3A>G rs117698926 0.00031
NM_018896.5(CACNA1G):c.286G>A (p.Val96Met) rs201146969 0.00031
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761 0.00031
NM_022915.5(MRPL44):c.648+4C>T rs369491695 0.00031
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_177559.3(CSNK2A1):c.1061-9T>C rs371565154 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_000258.3(MYL3):c.482-17C>T rs201289145 0.00030
NM_000335.5(SCN5A):c.4932G>A (p.Thr1644=) rs376150162 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324 0.00030
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001267550.2(TTN):c.24506-16T>C rs200319727 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001303052.2(MYT1L):c.2284-6C>T rs201483154 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_004958.4(MTOR):c.5244C>A (p.Ala1748=) rs144768080 0.00030
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro) rs138840811 0.00030
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012 0.00030
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) rs185505138 0.00030
NM_030662.4(MAP2K2):c.303+12G>A rs376432107 0.00030
NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=) rs373456806 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000335.5(SCN5A):c.3837+17G>A rs45466091 0.00029
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000465.4(BARD1):c.1515G>T (p.Gly505=) rs139721211 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_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705 0.00029
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001134673.4(NFIA):c.1332G>A (p.Pro444=) rs138132492 0.00029
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=) rs377234151 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001303052.2(MYT1L):c.3039C>T (p.Asp1013=) rs371203153 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001371928.1(AHDC1):c.225A>G (p.Pro75=) rs377231405 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_003070.5(SMARCA2):c.3126-17C>T rs200229990 0.00029
NM_003482.4(KMT2D):c.15019C>T (p.Arg5007Trp) rs201855029 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004958.4(MTOR):c.505-8T>A rs376720790 0.00029
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944 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_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_015909.4(NBAS):c.2423+11G>A rs370043999 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=) rs199829902 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.14809-20C>T rs141119268 0.00028
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734 0.00028
NM_001110556.2(FLNA):c.5313+4C>T rs377330443 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275 0.00028
NM_001197104.2(KMT2A):c.6185C>T (p.Thr2062Ile) rs145061625 0.00028
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu) rs138645438 0.00028
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_001372044.2(SHANK3):c.3876C>T (p.Asn1292=) rs371876840 0.00028
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866 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_003482.4(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497 0.00028
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) rs137920574 0.00028
NM_015570.4(AUTS2):c.2702G>A (p.Arg901His) rs138775036 0.00028
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_020988.3(GNAO1):c.828C>T (p.Gly276=) rs199741926 0.00028
NM_144498.4(OSBPL2):c.1250-3del rs781009740 0.00028
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00027
NM_000335.5(SCN5A):c.4785C>T (p.Phe1595=) rs141789366 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000465.4(BARD1):c.1491A>G (p.Pro497=) rs61754117 0.00027
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00027
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_006000.3(TUBA4A):c.1155C>T (p.Ala385=) rs752266046 0.00027
NM_006245.4(PPP2R5D):c.1773G>A (p.Ala591=) rs146155532 0.00027
NM_014317.5(PDSS1):c.540T>C (p.Asp180=) rs146170591 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_138395.4(MARS2):c.801G>C (p.Pro267=) rs144114997 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 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.516+14C>T rs182828913 0.00026
NM_000138.5(FBN1):c.539-15del rs193922211 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000193.4(SHH):c.213G>A (p.Glu71=) rs200317108 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000350.3(ABCA4):c.2383-13C>T rs56026711 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001148.6(ANK2):c.9279C>G (p.Thr3093=) rs148851013 0.00026
NM_001166108.2(PALLD):c.1965-12616C>T rs121908291 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=) rs149910892 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=) rs138979360 0.00026
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177 0.00026
NM_001374828.1(ARID1B):c.4254T>C (p.Phe1418=) rs368341224 0.00026
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys) rs201926772 0.00026
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr) rs143363942 0.00026
NM_001904.4(CTNNB1):c.1392C>G (p.Ala464=) rs141678313 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.1575A>G (p.Ala525=) rs144372300 0.00026
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=) rs371979518 0.00026
NM_005458.8(GABBR2):c.1662C>T (p.Thr554=) rs144905072 0.00026
NM_005458.8(GABBR2):c.1767G>A (p.Lys589=) rs150053493 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_005654.6(NR2F1):c.192C>T (p.Pro64=) rs747522225 0.00026
NM_006514.4(SCN10A):c.3542C>T (p.Thr1181Met) rs150773437 0.00026
NM_006766.5(KAT6A):c.1482+6G>A rs372494190 0.00026
NM_006766.5(KAT6A):c.5036C>T (p.Pro1679Leu) rs552834605 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_013275.6(ANKRD11):c.546G>T (p.Arg182=) rs772287589 0.00026
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 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_015570.4(AUTS2):c.2241G>A (p.Pro747=) rs143340591 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_030665.4(RAI1):c.2190G>C (p.Pro730=) rs141039036 0.00026
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) rs200602896 0.00025
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=) rs375858093 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001197104.2(KMT2A):c.9904G>A (p.Ala3302Thr) rs551471898 0.00025
NM_001205293.3(CACNA1E):c.4816-3C>T rs368553615 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=) rs148434577 0.00025
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) rs147399432 0.00025
NM_001291303.3(FAT4):c.5883T>C (p.Ser1961=) rs117016099 0.00025
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg) rs149117118 0.00025
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) rs36049237 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002524.5(NRAS):c.112-8A>G rs9724626 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246 0.00025
NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) rs373414243 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_004958.4(MTOR):c.5952G>A (p.Thr1984=) rs192740864 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser) rs146999807 0.00025
NM_007325.5(GRIA3):c.1326T>C (p.His442=) rs150823812 0.00025
NM_014159.7(SETD2):c.500C>T (p.Pro167Leu) rs78682369 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser) rs201781198 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu) rs139453757 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) rs113116986 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813 0.00024
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694 0.00024
NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile) rs368636412 0.00024
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) rs199788826 0.00024
NM_001365276.2(TNXB):c.2485G>A (p.Gly829Ser) rs147172260 0.00024
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412 0.00024
NM_004456.5(EZH2):c.1983A>G (p.Lys661=) rs201616806 0.00024
NM_004655.4(AXIN2):c.-33A>C rs190687283 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) rs145797427 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_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) rs199662367 0.00024
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_030665.4(RAI1):c.5199G>A (p.Ser1733=) rs146112263 0.00024
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=) rs374360796 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_172362.3(KCNH1):c.2532C>T (p.Cys844=) rs200699122 0.00024
NM_172362.3(KCNH1):c.282C>T (p.Ser94=) rs138645753 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381 0.00023
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 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_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001128840.3(CACNA1D):c.3854C>T (p.Ala1285Val) rs371512946 0.00023
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001148.6(ANK2):c.2868C>T (p.Asn956=) rs145960256 0.00023
NM_001197104.2(KMT2A):c.5289+5A>G rs568439743 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001904.4(CTNNB1):c.1830C>T (p.Ile610=) rs374923885 0.00023
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_003482.4(KMT2D):c.3045C>T (p.Ile1015=) rs370440607 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004006.3(DMD):c.696C>G (p.Ile232Met) rs145668843 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_004736.4(XPR1):c.2023G>A (p.Ala675Thr) rs139314192 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile) rs545152883 0.00023
NM_006766.5(KAT6A):c.4611C>T (p.Ser1537=) rs200721745 0.00023
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 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_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015559.3(SETBP1):c.4156G>A (p.Ala1386Thr) rs200286369 0.00023
NM_015559.3(SETBP1):c.575A>G (p.His192Arg) rs569466922 0.00023
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) rs78135749 0.00023
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_030665.4(RAI1):c.1134C>T (p.Ser378=) rs141719449 0.00023
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_144573.4(NEXN):c.1029G>A (p.Ala343=) rs374260457 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_172362.3(KCNH1):c.2661C>T (p.Ser887=) rs147411779 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=) rs369999866 0.00022
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734 0.00022
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001303052.2(MYT1L):c.2520T>C (p.Thr840=) rs201805139 0.00022
NM_001330260.2(SCN8A):c.3820-7T>C rs375785915 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=) rs151178361 0.00022
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_002317.7(LOX):c.395C>T (p.Ser132Phe) rs141394149 0.00022
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_002968.3(SALL1):c.1327G>A (p.Asp443Asn) rs374153597 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 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_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222 0.00022
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_006361.6(HOXB13):c.602-9G>A rs148901331 0.00022
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=) rs149912064 0.00022
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_014000.3(VCL):c.1744-19T>G rs201488697 0.00022
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=) rs143818136 0.00022
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_212552.3(BOLA3):c.45G>T (p.Gly15=) rs531409597 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
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_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00021
NM_000744.7(CHRNA4):c.1584G>A (p.Pro528=) rs199783192 0.00021
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_001018005.2(TPM1):c.115-214C>G rs947201175 0.00021
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001037.5(SCN1B):c.348G>A (p.Ser116=) rs375050816 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_001079866.2(BCS1L):c.461-9C>T rs780651750 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001144967.3(NEDD4L):c.1644C>T (p.Gly548=) rs371868483 0.00021
NM_001148.6(ANK2):c.997C>T (p.Leu333=) rs201024064 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001197104.2(KMT2A):c.4369A>G (p.Lys1457Glu) rs201765973 0.00021
NM_001197104.2(KMT2A):c.8632C>T (p.Leu2878=) rs150502030 0.00021
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=) rs149493236 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=) rs144666962 0.00021
NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=) rs548965753 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004839.4(HOMER2):c.539G>A (p.Arg180Gln) rs369968997 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=) rs72944827 0.00021
NM_005458.8(GABBR2):c.330C>T (p.Asn110=) rs139594158 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=) rs61743676 0.00021
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_021167.5(GATAD1):c.276T>G (p.Ser92=) rs143082866 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) rs201710470 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874 0.00020
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001048174.2(MUTYH):c.1102+17C>T rs369034810 0.00020
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=) rs72901936 0.00020
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142 0.00020
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=) rs104895398 0.00020
NM_001243133.2(NLRP3):c.564C>T (p.Ile188=) rs147631017 0.00020
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_015338.6(ASXL1):c.1474G>C (p.Ala492Pro) rs145913172 0.00020
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_024675.4(PALB2):c.2244A>G (p.Thr748=) rs750048627 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_172362.3(KCNH1):c.2327C>G (p.Ala776Gly) rs138931464 0.00020
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00019
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000218.3(KCNQ1):c.386+16216G>A rs201090517 0.00019
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765 0.00019
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170 0.00019
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001197104.2(KMT2A):c.10092C>T (p.His3364=) rs782320299 0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=) rs755702006 0.00019
NM_001458.5(FLNC):c.4125C>T (p.Thr1375=) rs191931963 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) rs749839151 0.00019
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_002397.5(MEF2C):c.-42T>C rs371238107 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=) rs148467601 0.00019
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003280.3(TNNC1):c.324T>C (p.Ala108=) rs145066209 0.00019
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_003673.4(TCAP):c.111-16C>G rs199865814 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004360.5(CDH1):c.1296C>T (p.Asn432=) rs187862045 0.00019
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004517.4(ILK):c.435A>C (p.Arg145Ser) rs139640491 0.00019
NM_004958.4(MTOR):c.1821G>A (p.Ala607=) rs55881943 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774 0.00019
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_015100.4(POGZ):c.2493C>G (p.Ala831=) rs149634988 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_017668.3(NDE1):c.948-3368C>A rs189463893 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu) rs372352945 0.00019
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_172201.2(KCNE2):c.354G>A (p.Gly118=) rs187917779 0.00019
NM_172362.3(KCNH1):c.2276G>A (p.Arg759Gln) rs141905481 0.00019
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe) rs569540038 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000465.4(BARD1):c.2082C>T (p.Leu694=) rs139620052 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_000742.4(CHRNA2):c.45C>T (p.Ser15=) rs149934219 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925 0.00018
NM_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg) rs141095369 0.00018
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg) rs775385239 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004523.4(KIF11):c.1383T>G (p.Leu461=) rs200035618 0.00018
NM_004526.4(MCM2):c.98G>A (p.Arg33Gln) rs142494006 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006005.3(WFS1):c.1923G>A (p.Thr641=) rs139040290 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_014000.3(VCL):c.81C>T (p.His27=) rs200733607 0.00018
NM_014467.3(SRPX2):c.624G>A (p.Pro208=) rs139514583 0.00018
NM_014727.3(KMT2B):c.1375C>T (p.Pro459Ser) rs574808075 0.00018
NM_020191.4(MRPS22):c.6G>A (p.Ala2=) rs144902770 0.00018
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) rs146082509 0.00018
NM_138395.4(MARS2):c.1287C>T (p.Phe429=) rs372016144 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000059.4(BRCA2):c.67+17T>C rs767648965 0.00017
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) rs189457419 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000455.5(STK11):c.597+8C>T rs565387911 0.00017
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=) rs397514999 0.00017
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) rs144992959 0.00017
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00017
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455 0.00017
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) rs182355009 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_004006.3(DMD):c.5076A>G (p.Thr1692=) rs145181319 0.00017
NM_004247.4(EFTUD2):c.1363G>A (p.Gly455Ser) rs201465523 0.00017
NM_004281.4(BAG3):c.96G>T (p.Pro32=) rs372083121 0.00017
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458 0.00017
NM_006000.3(TUBA4A):c.324T>C (p.Tyr108=) rs199579096 0.00017
NM_006015.6(ARID1A):c.759C>G (p.Pro253=) rs747694475 0.00017
NM_006383.4(CIB2):c.87-3A>G rs117723991 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_016628.5(WAC):c.1777A>G (p.Met593Val) rs569800060 0.00017
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) rs12720454 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000256.3(MYBPC3):c.506-17C>T rs561595897 0.00016
NM_000257.4(MYH7):c.3727-18C>T rs369549958 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000435.3(NOTCH3):c.3299G>A (p.Arg1100His) rs189545202 0.00016
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684 0.00016
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 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_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025 0.00016
NM_001080517.3(SETD5):c.3341G>A (p.Gly1114Asp) rs201189533 0.00016
NM_001083962.2(TCF4):c.330A>C (p.Ser110=) rs780528611 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239 0.00016
NM_001148.6(ANK2):c.270G>T (p.Val90=) rs376457094 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001197104.2(KMT2A):c.10746A>T (p.Ser3582=) rs9332844 0.00016
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=) rs375403439 0.00016
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001482.3(GATM):c.282G>A (p.Glu94=) rs141223762 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_001943.5(DSG2):c.783T>A (p.Arg261=) rs369869320 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003070.5(SMARCA2):c.4200-4G>A rs190182277 0.00016
NM_003482.4(KMT2D):c.3606C>T (p.Ser1202=) rs369602516 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004046.6(ATP5F1A):c.417C>T (p.Asp139=) rs371042141 0.00016
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_004655.4(AXIN2):c.1242G>A (p.Arg414=) rs200325634 0.00016
NM_004655.4(AXIN2):c.780T>C (p.Ser260=) rs147681058 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005726.6(TSFM):c.361-12T>G rs368313488 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_015570.4(AUTS2):c.3015G>A (p.Pro1005=) rs373113343 0.00016
NM_018429.3(BDP1):c.3797A>C (p.Glu1266Ala) rs377548231 0.00016
NM_018699.4(PRDM5):c.1113C>A (p.Ser371Arg) rs148079992 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000465.4(BARD1):c.1554C>T (p.Ala518=) rs139612775 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=) rs189384622 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001148.6(ANK2):c.2592T>C (p.Pro864=) rs138641014 0.00015
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001197104.2(KMT2A):c.9165T>C (p.Asp3055=) rs143721596 0.00015
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr) rs202118773 0.00015
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) rs72677240 0.00015
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001374828.1(ARID1B):c.1284G>A (p.Ala428=) rs1008607623 0.00015
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_004985.5(KRAS):c.-27C>T rs587781013 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005159.5(ACTC1):c.-22-15C>G rs368171271 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_021830.5(TWNK):c.1734+17G>A rs370918187 0.00015
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_133259.4(LRPPRC):c.3825+15C>T rs374967275 0.00015
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000548.5(TSC2):c.1947-3C>T rs201106259 0.00014
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=) rs587781006 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) rs563219502 0.00014
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_001098511.3(KIF2A):c.1536G>A (p.Val512=) rs150906089 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001148.6(ANK2):c.4372-7C>T rs370720661 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) rs587780978 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=) rs374902148 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=) rs570611759 0.00014
NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=) rs149147457 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001830.4(CLCN4):c.145-4C>A rs202245864 0.00014
NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr) rs200840944 0.00014
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002880.4(RAF1):c.1587G>A (p.Ser529=) rs114687276 0.00014
NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=) rs199998696 0.00014
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_004415.4(DSP):c.6192T>C (p.Asn2064=) rs371230455 0.00014
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=) rs369221405 0.00014
NM_004958.4(MTOR):c.2857G>A (p.Val953Met) rs140269225 0.00014
NM_004985.5(KRAS):c.451-14T>C rs372508498 0.00014
NM_005458.8(GABBR2):c.1977C>T (p.Ile659=) rs140073399 0.00014
NM_005458.8(GABBR2):c.2318C>T (p.Thr773Met) rs138346207 0.00014
NM_005458.8(GABBR2):c.884C>T (p.Thr295Met) rs200422079 0.00014
NM_005548.3(KARS1):c.426C>T (p.Leu142=) rs181866651 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_006565.4(CTCF):c.1509T>C (p.Ala503=) rs375387508 0.00014
NM_006766.5(KAT6A):c.4149C>T (p.Ser1383=) rs35760242 0.00014
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_007294.4(BRCA1):c.5194-18G>T rs80358090 0.00014
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=) rs144835963 0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=) rs144184948 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665 0.00014
NM_015559.3(SETBP1):c.607G>A (p.Gly203Ser) rs771044406 0.00014
NM_017547.4(FOXRED1):c.417+18C>T rs777504068 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.529-15C>T rs778783152 0.00014
NM_031475.3(ESPN):c.*6G>A rs200806495 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_213595.4(ISCU):c.229-5T>C rs761922921 0.00014
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000071.3(CBS):c.1539C>T (p.His513=) rs187828882 0.00013
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000335.5(SCN5A):c.4200C>T (p.Asn1400=) rs778436757 0.00013
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00013
NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys) rs150112824 0.00013
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001008537.3(NEXMIF):c.42C>T (p.Asn14=) rs370708043 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=) rs372097270 0.00013
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001040142.2(SCN2A):c.3954C>A (p.Ser1318=) rs139507841 0.00013
NM_001069.3(TUBB2A):c.96C>T (p.Pro32=) rs376336514 0.00013
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu) rs200873319 0.00013
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) rs7124179 0.00013
NM_001243133.2(NLRP3):c.2364C>A (p.Ile788=) rs766840708 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001282531.3(ADNP):c.1163C>T (p.Ala388Val) rs200732604 0.00013
NM_001349253.2(SCN11A):c.1097A>G (p.Gln366Arg) rs112707835 0.00013
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) rs199985543 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004247.4(EFTUD2):c.2631C>T (p.Ala877=) rs150043541 0.00013
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_004333.6(BRAF):c.723G>A (p.Thr241=) rs369182143 0.00013
NM_004360.5(CDH1):c.-49G>T rs564350060 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004655.4(AXIN2):c.144C>T (p.Pro48=) rs144099816 0.00013
NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=) rs201146203 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005458.8(GABBR2):c.663C>T (p.Gly221=) rs371998319 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.1953A>G (p.Pro651=) rs141507912 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=) rs142473716 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_014476.6(PDLIM3):c.696C>T (p.Asp232=) rs148256486 0.00013
NM_017780.4(CHD7):c.4851-31C>T rs149348445 0.00013
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=) rs368676576 0.00013
NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=) rs775908350 0.00013
NM_024675.4(PALB2):c.1641C>T (p.Thr547=) rs564514783 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_030662.4(MAP2K2):c.246C>T (p.Asn82=) rs150942310 0.00013
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 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_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) rs376180501 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=) rs371331114 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00012
NM_000363.5(TNNI3):c.207C>G (p.Arg69=) rs201422579 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001148.6(ANK2):c.3033C>T (p.Arg1011=) rs142052072 0.00012
NM_001197104.2(KMT2A):c.11072-3C>T rs566748015 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_001303052.2(MYT1L):c.372C>T (p.Asp124=) rs532643748 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002968.3(SALL1):c.3603C>T (p.Gly1201=) rs542678985 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_004526.4(MCM2):c.2556G>A (p.Gly852=) rs190121900 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005249.5(FOXG1):c.*4C>T rs774917687 0.00012
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860 0.00012
NM_005431.2(XRCC2):c.354G>A (p.Val118=) rs558977371 0.00012
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_018026.4(PACS1):c.1293+6C>T rs369639320 0.00012
NM_018122.5(DARS2):c.228-19C>T rs56302419 0.00012
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) rs189380751 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00011
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=) rs368404583 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000251.3(MSH2):c.1387-4G>C rs376796243 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000257.4(MYH7):c.345C>T (p.Tyr115=) rs149439730 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000257.4(MYH7):c.5139G>A (p.Val1713=) rs369562442 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321 0.00011
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000891.3(KCNJ2):c.168T>C (p.Val56=) rs370111593 0.00011
NM_001018005.2(TPM1):c.726G>A (p.Ala242=) rs200484871 0.00011
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001035.3(RYR2):c.402C>T (p.Ser134=) rs776832019 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=) rs72556369 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) rs376679796 0.00011
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr) rs187739639 0.00011
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) rs199595253 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 0.00011
NM_001379180.1(ESRRB):c.876C>T (p.Asp292=) rs201417586 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_001458.5(FLNC):c.5892C>T (p.Asp1964=) rs747546440 0.00011
NM_001904.4(CTNNB1):c.633T>C (p.Ala211=) rs148600849 0.00011
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) rs138466751 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003482.4(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705 0.00011
NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) rs375466241 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_004360.5(CDH1):c.*8G>A rs201223411 0.00011
NM_004360.5(CDH1):c.2643C>T (p.Asp881=) rs114708971 0.00011
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568 0.00011
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_004655.4(AXIN2):c.2433G>A (p.Glu811=) rs147134295 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) rs139050190 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met) rs375919039 0.00011
NM_019066.5(MAGEL2):c.3721G>A (p.Gly1241Ser) rs555657199 0.00011
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=) rs143275018 0.00011
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=) rs139701369 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_198904.4(GABRG2):c.1122A>G (p.Lys374=) rs776166431 0.00011
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_000051.4(ATM):c.7789-15G>C rs781449587 0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=) rs41313068 0.00010
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=) rs375467797 0.00010
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.1887G>A (p.Ala629=) rs376572023 0.00010
NM_000257.4(MYH7):c.2184G>A (p.Ala728=) rs148650290 0.00010
NM_000307.5(POU3F4):c.418A>C (p.Thr140Pro) rs186010225 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000335.5(SCN5A):c.1338+20G>A rs45626543 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000465.4(BARD1):c.1568+15G>T rs145936354 0.00010
NM_000465.4(BARD1):c.2002-11C>T rs187240320 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=) rs374222028 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721 0.00010
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=) rs762656408 0.00010
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_001005242.3(PKP2):c.45C>T (p.Thr15=) rs759214983 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001039591.3(USP9X):c.5340C>T (p.Thr1780=) rs371672710 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001040142.2(SCN2A):c.2562+5A>G rs374738441 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001099404.2(SCN5A):c.648G>A (p.Ser216=) rs45475402 0.00010
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) rs267608504 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) rs148370267 0.00010
NM_001148.6(ANK2):c.1899A>G (p.Leu633=) rs377608305 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) rs375030056 0.00010
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) rs142975776 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732 0.00010
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) rs372633280 0.00010
NM_001267550.2(TTN):c.56051-12T>A rs147192175 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=) rs727504190 0.00010
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990 0.00010
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328 0.00010
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001953.5(TYMP):c.1071C>T (p.Ala357=) rs772042113 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.984G>A (p.Ala328=) rs760364650 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004655.4(AXIN2):c.1907+17G>A rs201487132 0.00010
NM_004655.4(AXIN2):c.2142-20C>T rs764171738 0.00010
NM_005138.3(SCO2):c.537C>G (p.Arg179=) rs142239527 0.00010
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005431.2(XRCC2):c.678T>C (p.Tyr226=) rs143357617 0.00010
NM_005548.3(KARS1):c.1161C>T (p.Phe387=) rs560091813 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005859.5(PURA):c.543C>T (p.Gly181=) rs555886273 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_006015.6(ARID1A):c.4542G>A (p.Thr1514=) rs560211386 0.00010
NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly) rs373190705 0.00010
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=) rs533051571 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_015141.4(GPD1L):c.876G>A (p.Glu292=) rs72546642 0.00010
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) rs148597247 0.00010
NM_020117.11(LARS1):c.1860G>A (p.Glu620=) rs146906828 0.00010
NM_030632.3(ASXL3):c.6053C>T (p.Pro2018Leu) rs752977390 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_139215.3(TAF15):c.1344A>G (p.Gly448=) rs1321826060 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 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.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=) rs371864051 0.00009
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=) rs143518632 0.00009
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000238.4(KCNH2):c.2398+179G>A rs373927190 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748 0.00009
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=) rs761700877 0.00009
NM_000257.4(MYH7):c.2091T>C (p.Gly697=) rs140380523 0.00009
NM_000257.4(MYH7):c.3045C>T (p.Asp1015=) rs150607954 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.885G>A (p.Glu295=) rs373342830 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.993+13G>C rs369599972 0.00009
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674 0.00009
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000834.5(GRIN2B):c.3957G>A (p.Pro1319=) rs141730031 0.00009
NM_000834.5(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127 0.00009
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=) rs749474378 0.00009
NM_001039876.3(SYNE4):c.789A>G (p.Gln263=) rs557057979 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001080517.3(SETD5):c.3338A>G (p.His1113Arg) rs200143538 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) rs751775695 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666 0.00009
NM_001148.6(ANK2):c.2127T>C (p.Asn709=) rs113454484 0.00009
NM_001148.6(ANK2):c.2712C>T (p.Ser904=) rs149310669 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001197104.2(KMT2A):c.6492G>A (p.Pro2164=) rs145452548 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr) rs144639994 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=) rs762141482 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001278116.2(L1CAM):c.1547-14C>T rs145192924 0.00009
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile) rs140548603 0.00009
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) rs41428447 0.00009
NM_001458.5(FLNC):c.4161C>T (p.Ile1387=) rs200288149 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_002878.4(RAD51D):c.864C>T (p.Gly288=) rs138557828 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004523.4(KIF11):c.418C>T (p.Leu140Phe) rs766343259 0.00009
NM_004655.4(AXIN2):c.2406-8C>G rs143905290 0.00009
NM_004958.4(MTOR):c.3247A>G (p.Met1083Val) rs56164650 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_006245.4(PPP2R5D):c.516C>T (p.Val172=) rs143756218 0.00009
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) rs148329626 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949 0.00009
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_015570.4(AUTS2):c.723C>T (p.Asn241=) rs182043086 0.00009
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_020117.11(LARS1):c.2149-16T>C rs371035009 0.00009
NM_020191.4(MRPS22):c.173-15_173-14dup rs863224076 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_024407.5(NDUFS7):c.54-6C>T rs372999514 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_031407.7(HUWE1):c.9797A>G (p.Asn3266Ser) rs201752906 0.00009
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=) rs762499878 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000142.5(FGFR3):c.1285G>A (p.Ala429Thr) rs182935140 0.00008
NM_000179.3(MSH6):c.3264C>T (p.Phe1088=) rs35621414 0.00008
NM_000179.3(MSH6):c.3540A>C (p.Ser1180=) rs777096746 0.00008
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) rs188818227 0.00008
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) rs75005975 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085 0.00008
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000834.5(GRIN2B):c.513C>T (p.Ile171=) rs3026183 0.00008
NM_001003800.2(BICD2):c.2350A>G (p.Met784Val) rs149891938 0.00008
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=) rs377503418 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001148.6(ANK2):c.10983T>C (p.Ser3661=) rs544195596 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985 0.00008
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) rs527248119 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_003722.5(TP63):c.1127G>A (p.Arg376His) rs143591434 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005431.2(XRCC2):c.477C>T (p.Arg159=) rs202226401 0.00008
NM_005458.8(GABBR2):c.1212C>T (p.Asn404=) rs140891913 0.00008
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg) rs558739370 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=) rs377674001 0.00008
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015559.3(SETBP1):c.3481G>C (p.Asp1161His) rs199578000 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_021628.3(ALOXE3):c.1101+9G>A rs758641318 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_033337.3(CAV3):c.444G>A (p.Arg148=) rs376749605 0.00008
NM_172362.3(KCNH1):c.2372G>A (p.Arg791His) rs139318016 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=) rs777488349 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) rs138884514 0.00007
NM_000243.3(MEFV):c.663G>C (p.Pro221=) rs104895162 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.545+19G>T rs41285099 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.642A>G (p.Arg214=) rs768931909 0.00007
NM_000257.4(MYH7):c.1671G>A (p.Leu557=) rs149386750 0.00007
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=) rs370990219 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396 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_000455.5(STK11):c.734+20G>A rs375315233 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=) rs181279399 0.00007
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=) rs199569953 0.00007
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=) rs765091519 0.00007
NM_000719.7(CACNA1C):c.5091+3G>A rs372915169 0.00007
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) rs199710029 0.00007
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) rs66476803 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=) rs147887477 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134407.3(GRIN2A):c.882C>T (p.Asp294=) rs201002710 0.00007
NM_001148.6(ANK2):c.11523G>A (p.Pro3841=) rs143290935 0.00007
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=) rs143140947 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001303052.2(MYT1L):c.1200G>A (p.Ala400=) rs373977335 0.00007
NM_001303052.2(MYT1L):c.2461G>A (p.Val821Ile) rs201961477 0.00007
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp) rs148277570 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847 0.00007
NM_004415.4(DSP):c.1044+12G>A rs775969969 0.00007
NM_004517.4(ILK):c.864C>T (p.Val288=) rs147558204 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005751.5(AKAP9):c.492G>A (p.Leu164=) rs148852801 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_006015.6(ARID1A):c.3046G>A (p.Gly1016Ser) rs182858322 0.00007
NM_006015.6(ARID1A):c.5615C>T (p.Ala1872Val) rs191813608 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_007294.4(BRCA1):c.5332+13G>T rs372391060 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_015570.4(AUTS2):c.2553C>G (p.His851Gln) rs201055436 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_018129.4(PNPO):c.777T>C (p.Leu259=) rs142461702 0.00007
NM_020988.3(GNAO1):c.687C>T (p.Ser229=) rs546569747 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=) rs587781027 0.00007
NM_030665.4(RAI1):c.2085T>C (p.Ala695=) rs200335835 0.00007
NM_031407.7(HUWE1):c.9357C>T (p.Ser3119=) rs143862848 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_133379.5(TTN):c.11574A>G (p.Val3858=) rs751724481 0.00007
NM_153252.5(BRWD3):c.492A>G (p.Ser164=) rs761355398 0.00007
NM_198904.4(GABRG2):c.1153-7G>A rs372884176 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096 0.00007
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=) rs143097772 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000071.3(CBS):c.1266G>A (p.Pro422=) rs150146702 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=) rs368979510 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) rs140366118 0.00006
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=) rs770968269 0.00006
NM_000238.4(KCNH2):c.342C>T (p.Pro114=) rs532959204 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000256.3(MYBPC3):c.2308+8C>T rs373135387 0.00006
NM_000256.3(MYBPC3):c.654+12G>A rs397516065 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.2922G>A (p.Lys974=) rs147727900 0.00006
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=) rs397516200 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819 0.00006
NM_000258.3(MYL3):c.*9C>T rs202234617 0.00006
NM_000283.4(PDE6B):c.852+15G>A rs371254584 0.00006
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000335.5(SCN5A):c.3723C>T (p.Ala1241=) rs61737829 0.00006
NM_000335.5(SCN5A):c.4887A>T (p.Ile1629=) rs201559770 0.00006
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000455.5(STK11):c.*16+12C>T rs730881966 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.734+17C>G rs751929304 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 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_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106 0.00006
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000744.7(CHRNA4):c.1116C>T (p.Ile372=) rs199889002 0.00006
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=) rs148364390 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001018005.2(TPM1):c.493-18T>G rs377726678 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246 0.00006
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=) rs370082063 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=) rs189299988 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528 0.00006
NM_001037.5(SCN1B):c.448+8G>C rs200222933 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001080517.3(SETD5):c.567+992A>G rs533021669 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775 0.00006
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001127222.2(CACNA1A):c.294-6C>T rs764502828 0.00006
NM_001134407.3(GRIN2A):c.2760A>G (p.Arg920=) rs80138441 0.00006
NM_001144967.3(NEDD4L):c.2892C>T (p.Ala964=) rs372898637 0.00006
NM_001148.6(ANK2):c.11628A>G (p.Glu3876=) rs376376716 0.00006
NM_001148.6(ANK2):c.1575G>A (p.Ala525=) rs565952102 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) rs761409144 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=) rs762103106 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=) rs200283086 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) rs200456688 0.00006
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) rs201027928 0.00006
NM_001330260.2(SCN8A):c.-67C>T rs374729451 0.00006
NM_001365276.2(TNXB):c.7352G>A (p.Arg2451Gln) rs201131695 0.00006
NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr) rs534403874 0.00006
NM_001374828.1(ARID1B):c.4721C>T (p.Pro1574Leu) rs370889837 0.00006
NM_001374828.1(ARID1B):c.5640C>T (p.Ser1880=) rs555132244 0.00006
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu) rs143138715 0.00006
NM_001377299.1(NDUFS2):c.95+9G>C rs377100925 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001458.5(FLNC):c.2382G>A (p.Ala794=) rs536456072 0.00006
NM_001458.5(FLNC):c.6816C>T (p.Ser2272=) rs375139827 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001943.5(DSG2):c.1491C>T (p.Pro497=) rs587780928 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_001958.5(EEF1A2):c.561C>T (p.Thr187=) rs376891760 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) rs190675029 0.00006
NM_002485.5(NBN):c.819A>T (p.Thr273=) rs147660518 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002755.4(MAP2K1):c.396G>A (p.Ala132=) rs139364105 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00006
NM_004333.6(BRAF):c.1433-5T>C rs587780861 0.00006
NM_004360.5(CDH1):c.2136G>T (p.Gly712=) rs763402728 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004655.4(AXIN2):c.2237+3G>A rs376584101 0.00006
NM_005431.2(XRCC2):c.282A>G (p.Thr94=) rs376598559 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_006506.5(RASA2):c.1942G>A (p.Ala648Thr) rs769395361 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=) rs534933618 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 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.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) rs756780145 0.00006
NM_012282.4(KCNE5):c.42C>T (p.Ser14=) rs763118222 0.00006
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) rs150339818 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014795.4(ZEB2):c.1221C>T (p.His407=) rs144613207 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_015141.3(GPD1L):c.367-10A>T rs113764055 0.00006
NM_015559.3(SETBP1):c.3834G>C (p.Leu1278=) rs560028623 0.00006
NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala) rs199756061 0.00006
NM_015570.4(AUTS2):c.2538C>T (p.Ser846=) rs145994529 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018026.4(PACS1):c.385G>A (p.Val129Ile) rs115491121 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe) rs753188664 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.2748+16G>A rs730881873 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_030632.3(ASXL3):c.5985C>T (p.Pro1995=) rs547996263 0.00006
NM_030662.4(MAP2K2):c.903C>T (p.Pro301=) rs560316877 0.00006
NM_030665.4(RAI1):c.284C>T (p.Pro95Leu) rs370882080 0.00006
NM_030665.4(RAI1):c.531G>A (p.Pro177=) rs148993070 0.00006
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.632-6C>T rs199883385 0.00006
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 0.00005
NM_000059.4(BRCA2):c.1749G>A (p.Leu583=) rs780324598 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144 0.00005
NM_000249.4(MLH1):c.1020C>G (p.Ser340=) rs374770981 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201 0.00005
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932 0.00005
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) rs397515996 0.00005
NM_000257.4(MYH7):c.1251C>G (p.Val417=) rs370628924 0.00005
NM_000257.4(MYH7):c.1323G>A (p.Thr441=) rs397516096 0.00005
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000257.4(MYH7):c.4290G>T (p.Val1430=) rs372476972 0.00005
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000335.5(SCN5A):c.4811-5C>T rs765962519 0.00005
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.465-18G>T rs587781177 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000465.4(BARD1):c.-4G>A rs761863671 0.00005
NM_000465.4(BARD1):c.738A>G (p.Pro246=) rs587780859 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_000748.3(CHRNB2):c.297T>C (p.Phe99=) rs777276160 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_001005242.3(PKP2):c.1137C>T (p.His379=) rs754927123 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=) rs375084663 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) rs534263445 0.00005
NM_001148.6(ANK2):c.3136C>T (p.Leu1046=) rs149840991 0.00005
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=) rs372952752 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.2280C>T (p.Val760=) rs727505021 0.00005
NM_001267550.2(TTN):c.31227T>G (p.Val10409=) rs748539440 0.00005
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=) rs139054950 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=) rs397516474 0.00005
NM_001291415.2(KDM6A):c.2329T>C (p.Leu777=) rs757380047 0.00005
NM_001347721.2(DYRK1A):c.1735A>C (p.Thr579Pro) rs149948846 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=) rs200228240 0.00005
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu) rs1484818039 0.00005
NM_001458.5(FLNC):c.22T>C (p.Ser8Pro) rs544875797 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194 0.00005
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002878.4(RAD51D):c.346-10C>T rs779972784 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003482.4(KMT2D):c.4583+10T>C rs537765057 0.00005
NM_004360.5(CDH1):c.699C>T (p.His233=) rs115494727 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004958.4(MTOR):c.5811+13G>A rs370120494 0.00005
NM_004958.4(MTOR):c.5812-19G>A rs374670621 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_005751.5(AKAP9):c.5610T>C (p.His1870=) rs150332727 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
NM_006015.6(ARID1A):c.837C>T (p.Pro279=) rs751086005 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) rs140776736 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_030665.4(RAI1):c.586G>A (p.Asp196Asn) rs775499267 0.00005
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=) rs782202317 0.00005
NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala) rs199740131 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=) rs202183926 0.00005
NM_138395.4(MARS2):c.1297C>G (p.Pro433Ala) rs564555725 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_172201.2(KCNE2):c.252C>T (p.Tyr84=) rs1028976664 0.00005
NM_172362.3(KCNH1):c.2434G>A (p.Ala812Thr) rs759775665 0.00005
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940 0.00004
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.8061A>G (p.Ser2687=) rs746180965 0.00004
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.316+13A>G rs773097109 0.00004
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.6841+11A>G rs730881592 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000179.3(MSH6):c.1068T>C (p.Gly356=) rs749752524 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3557-3A>T rs41295274 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.4001+15A>G rs202176821 0.00004
NM_000218.3(KCNQ1):c.1033-15T>A rs534945737 0.00004
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=) rs147635827 0.00004
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) rs368954514 0.00004
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) rs769470521 0.00004
NM_000243.3(MEFV):c.948C>T (p.His316=) rs150252937 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.1590C>T (p.Phe530=) rs752241564 0.00004
NM_000249.4(MLH1):c.579A>G (p.Ser193=) rs587781038 0.00004
NM_000251.3(MSH2):c.1830C>T (p.His610=) rs766326295 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=) rs371488508 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.1482T>C (p.Phe494=) rs587781088 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000257.4(MYH7):c.633G>A (p.Pro211=) rs587781087 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=) rs45570333 0.00004
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.357C>G (p.Pro119=) rs749556647 0.00004
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=) rs775789293 0.00004
NM_000335.5(SCN5A):c.42C>T (p.Arg14=) rs183988524 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.5172G>A (p.Pro1724=) rs372629753 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225 0.00004
NM_000363.5(TNNI3):c.*35C>T rs375447438 0.00004
NM_000363.5(TNNI3):c.6G>A (p.Ala2=) rs397516361 0.00004
NM_000391.4(TPP1):c.1407A>G (p.Pro469=) rs750546113 0.00004
NM_000455.5(STK11):c.1109-5C>T rs587782020 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000455.5(STK11):c.42G>A (p.Glu14=) rs758769888 0.00004
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.1473G>A (p.Gly491=) rs151080730 0.00004
NM_000465.4(BARD1):c.2172G>T (p.Ala724=) rs143331809 0.00004
NM_000465.4(BARD1):c.2280G>A (p.Ser760=) rs749959440 0.00004
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_000465.4(BARD1):c.783A>G (p.Leu261=) rs201862973 0.00004
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.246G>A (p.Pro82=) rs372397095 0.00004
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196 0.00004
NM_000660.7(TGFB1):c.576G>A (p.Ser192=) rs766221068 0.00004
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=) rs757055492 0.00004
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=) rs781180544 0.00004
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) rs199629800 0.00004
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) rs587780882 0.00004
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=) rs587780878 0.00004
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) rs546786746 0.00004
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=) rs780871697 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=) rs540934161 0.00004
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=) rs752809686 0.00004
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00004
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_000834.5(GRIN2B):c.61G>A (p.Val21Met) rs79046967 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.213C>T (p.Ser71=) rs1173618581 0.00004
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419 0.00004
NM_001035.3(RYR2):c.294+15G>A rs750047302 0.00004
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=) rs368017980 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=) rs751554639 0.00004
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844 0.00004
NM_001037.5(SCN1B):c.448+299A>G rs1027861663 0.00004
NM_001037.5(SCN1B):c.448+48A>C rs757515975 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001077350.3(NPRL3):c.924+7C>G rs778499898 0.00004
NM_001080517.3(SETD5):c.4065G>A (p.Ser1355=) rs554246026 0.00004
NM_001098.3(ACO2):c.120C>T (p.Asn40=) rs138241206 0.00004
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001267550.2(TTN):c.34379-14T>C rs727505341 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.67348+11G>C rs587780982 0.00004
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) rs767989384 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=) rs747423090 0.00004
NM_001267550.2(TTN):c.90237C>T (p.His30079=) rs756663688 0.00004
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=) rs587780987 0.00004
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=) rs72648274 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001282531.3(ADNP):c.801C>G (p.Pro267=) rs191162376 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001303052.2(MYT1L):c.273C>T (p.Asp91=) rs575777422 0.00004
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) rs147995584 0.00004
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp) rs201595662 0.00004
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001374828.1(ARID1B):c.4831C>T (p.Pro1611Ser) rs765827636 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001613.4(ACTA2):c.60G>A (p.Lys20=) rs373232511 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001830.4(CLCN4):c.1819C>T (p.Pro607Ser) rs193252755 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001972.4(ELANE):c.372C>T (p.Asn124=) rs200595736 0.00004
NM_002241.5(KCNJ10):c.-43G>A rs372841245 0.00004
NM_002294.3(LAMP2):c.-7C>T rs762305947 0.00004
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) rs375230260 0.00004
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) rs760286479 0.00004
NM_002474.3(MYH11):c.831C>T (p.Asp277=) rs113537940 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002693.3(POLG):c.1713-5C>T rs148494026 0.00004
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002755.4(MAP2K1):c.439-8G>A rs747709090 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=) rs774320273 0.00004
NM_003280.3(TNNC1):c.207C>T (p.Ser69=) rs202173903 0.00004
NM_003280.3(TNNC1):c.317+9G>A rs761287435 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.9296G>A (p.Arg3099His) rs778257510 0.00004
NM_004006.3(DMD):c.1503A>G (p.Glu501=) rs770464589 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004281.4(BAG3):c.627G>A (p.Pro209=) rs188555685 0.00004
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.1392C>T (p.Val464=) rs373811706 0.00004
NM_004360.5(CDH1):c.2165-15C>A rs552874184 0.00004
NM_004360.5(CDH1):c.2280C>T (p.Gly760=) rs768547540 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849 0.00004
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=) rs765518896 0.00004
NM_004958.4(MTOR):c.6675C>T (p.Tyr2225=) rs185523638 0.00004
NM_004958.4(MTOR):c.831G>T (p.Met277Ile) rs752049917 0.00004
NM_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185 0.00004
NM_005249.5(FOXG1):c.165C>T (p.His55=) rs796052449 0.00004
NM_005262.3(GFER):c.269A>G (p.Lys90Arg) rs199651600 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005458.8(GABBR2):c.882C>T (p.His294=) rs200727904 0.00004
NM_006015.6(ARID1A):c.4081A>G (p.Met1361Val) rs770710220 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.366T>G (p.Val122=) rs190900046 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012062.5(DNM1L):c.1200+9G>A rs755263994 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00004
NM_014236.4(GNPAT):c.1377C>T (p.Ser459=) rs549151385 0.00004
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00004
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser) rs369622877 0.00004
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015559.3(SETBP1):c.2571C>T (p.Ser857=) rs763175959 0.00004
NM_015559.3(SETBP1):c.2873A>G (p.Glu958Gly) rs748289164 0.00004
NM_015570.4(AUTS2):c.947G>A (p.Arg316Gln) rs772514731 0.00004
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_019066.5(MAGEL2):c.273G>A (p.Pro91=) rs374554976 0.00004
NM_022455.5(NSD1):c.1782T>C (p.Pro594=) rs200002555 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr) rs200334892 0.00004
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=) rs587781028 0.00004
NM_030665.4(RAI1):c.187G>A (p.Ala63Thr) rs758424396 0.00004
NM_032043.3(BRIP1):c.-5G>A rs754270436 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_144997.7(FLCN):c.1300+12C>T rs565983064 0.00004
NM_182476.3(COQ6):c.453T>C (p.Ala151=) rs757927318 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_198904.4(GABRG2):c.219G>A (p.Leu73=) rs753076158 0.00004
NM_201596.3(CACNB2):c.342C>T (p.Pro114=) rs368505003 0.00004
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.7731A>G (p.Ser2577=) rs537187449 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 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.3711T>C (p.Ala1237=) rs745588537 0.00003
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=) rs786201377 0.00003
NM_000059.4(BRCA2):c.6078A>G (p.Thr2026=) rs375649375 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.7287G>A (p.Glu2429=) rs786202210 0.00003
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=) rs748631472 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1785A>G (p.Leu595=) rs767325893 0.00003
NM_000179.3(MSH6):c.1917G>A (p.Glu639=) rs368059229 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.4002-14T>C rs587781041 0.00003
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) rs760047145 0.00003
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) rs41307295 0.00003
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) rs199828796 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089 0.00003
NM_000257.4(MYH7):c.2859C>T (p.Asp953=) rs370800700 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000257.4(MYH7):c.5481G>A (p.Glu1827=) rs368848344 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.2253C>T (p.Val751=) rs371649934 0.00003
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000335.5(SCN5A):c.3831C>T (p.Ile1277=) rs778600514 0.00003
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916 0.00003
NM_000335.5(SCN5A):c.552C>T (p.His184=) rs770959082 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.552C>T (p.Leu184=) rs587780719 0.00003
NM_000455.5(STK11):c.57G>C (p.Ser19=) rs748698151 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.2220+11C>T rs372555496 0.00003
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264 0.00003
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=) rs549427685 0.00003
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451 0.00003
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001080517.3(SETD5):c.123C>A (p.Ser41=) rs548352059 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001148.6(ANK2):c.10707C>T (p.Ile3569=) rs539298479 0.00003
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) rs757535449 0.00003
NM_001197104.2(KMT2A):c.10690C>T (p.Arg3564Trp) rs555310772 0.00003
NM_001197104.2(KMT2A):c.218G>A (p.Gly73Glu) rs782233787 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=) rs374037144 0.00003
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) rs775065173 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) rs773148195 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=) rs141431591 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001372044.2(SHANK3):c.5160C>T (p.Pro1720=) rs751652089 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487 0.00003
NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=) rs755626092 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn) rs778594252 0.00003
NM_001458.5(FLNC):c.5910C>T (p.Thr1970=) rs544613263 0.00003
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=) rs369791058 0.00003
NM_001482.3(GATM):c.1239G>A (p.Arg413=) rs550159982 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001904.4(CTNNB1):c.1653G>A (p.Thr551=) rs138539284 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002485.5(NBN):c.2235-18C>T rs138106214 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002755.4(MAP2K1):c.156C>T (p.Ala52=) rs147489724 0.00003
NM_002755.4(MAP2K1):c.276G>C (p.Leu92=) rs377323150 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_002880.4(RAF1):c.1821G>A (p.Glu607=) rs747437834 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003098.3(SNTA1):c.114C>T (p.Asp38=) rs780018849 0.00003
NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=) rs776321392 0.00003
NM_003482.4(KMT2D):c.10469C>T (p.Pro3490Leu) rs376980951 0.00003
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=) rs557759616 0.00003
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=) rs201770311 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.1689C>T (p.Ala563=) rs587780786 0.00003
NM_004360.5(CDH1):c.753G>A (p.Thr251=) rs371996897 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.363C>T (p.Leu121=) rs748204541 0.00003
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004655.4(AXIN2):c.1635G>A (p.Gly545=) rs778710067 0.00003
NM_005120.3(MED12):c.4416-48T>C rs12849277 0.00003
NM_005159.5(ACTC1):c.270C>T (p.His90=) rs138812333 0.00003
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458 0.00003
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_005670.4(EPM2A):c.762G>A (p.Ala254=) rs199586710 0.00003
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=) rs754974720 0.00003
NM_006086.4(TUBB3):c.330G>A (p.Ala110=) rs535819460 0.00003
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_007078.3(LDB3):c.1386C>T (p.Thr462=) rs764330273 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007294.4(BRCA1):c.507G>A (p.Gln169=) rs759882045 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_014317.5(PDSS1):c.1108-7C>G rs367942639 0.00003
NM_015100.4(POGZ):c.1186-4A>G rs201321619 0.00003
NM_015100.4(POGZ):c.1623T>C (p.Thr541=) rs770222629 0.00003
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) rs373126831 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=) rs587781126 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_018026.4(PACS1):c.2198G>A (p.Arg733Gln) rs116546787 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032380.5(GFM2):c.1188G>A (p.Gln396=) rs147925896 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_145239.3(PRRT2):c.-30T>C rs202072359 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000038.6(APC):c.1313-9A>G rs368494354 0.00002
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00002
NM_000038.6(APC):c.1713A>G (p.Ala571=) rs529306174 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=) rs587780543 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8671+18T>C rs763189977 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.2094A>G (p.Leu698=) rs28897714 0.00002
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_000059.4(BRCA2):c.534A>G (p.Lys178=) rs28897703 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 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.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000179.3(MSH6):c.1773A>G (p.Pro591=) rs752239740 0.00002
NM_000179.3(MSH6):c.321T>C (p.Pro107=) rs730881823 0.00002
NM_000179.3(MSH6):c.3786G>A (p.Val1262=) rs760771483 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000218.3(KCNQ1):c.678C>G (p.Ala226=) rs771489129 0.00002
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) rs201995634 0.00002
NM_000238.4(KCNH2):c.1558-6C>T rs777107971 0.00002
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=) rs372089646 0.00002
NM_000238.4(KCNH2):c.351C>T (p.Asn117=) rs757132095 0.00002
NM_000238.4(KCNH2):c.817C>A (p.Arg273=) rs552583527 0.00002
NM_000238.4(KCNH2):c.939C>T (p.Ser313=) rs778439539 0.00002
NM_000243.3(MEFV):c.2103G>A (p.Ala701=) rs104895095 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000251.3(MSH2):c.1131A>G (p.Gln377=) rs181852377 0.00002
NM_000251.3(MSH2):c.2635-11A>G rs201291595 0.00002
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=) rs397515951 0.00002
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=) rs762154672 0.00002
NM_000256.3(MYBPC3):c.3534C>T (p.Ser1178=) rs756160183 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000335.5(SCN5A):c.1821C>T (p.Gly607=) rs753835985 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=) rs1405503955 0.00002
NM_000335.5(SCN5A):c.453C>T (p.His151=) rs199996750 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000391.4(TPP1):c.465T>C (p.His155=) rs778947332 0.00002
NM_000421.5(KRT10):c.75T>C (p.Cys25=) rs1555549255 0.00002
NM_000455.5(STK11):c.1109-14C>T rs780434041 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000455.5(STK11):c.984C>G (p.Thr328=) rs730881965 0.00002
NM_000465.4(BARD1):c.531A>G (p.Gln177=) rs774050888 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 0.00002
NM_000535.7(PMS2):c.803+19A>G rs761928990 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_000546.6(TP53):c.468C>T (p.Arg156=) rs761222871 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000548.5(TSC2):c.5161-8G>A rs374674097 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=) rs776884902 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=) rs372264881 0.00002
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=) rs775567368 0.00002
NM_000918.4(P4HB):c.1302C>T (p.Ala434=) rs199614682 0.00002
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile) rs370599966 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=) rs774859181 0.00002
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540 0.00002
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001037.5(SCN1B):c.63C>T (p.Cys21=) rs200339565 0.00002
NM_001039591.3(USP9X):c.5920A>G (p.Ile1974Val) rs760867179 0.00002
NM_001040142.2(SCN2A):c.5994A>G (p.Lys1998=) rs745810335 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001048174.2(MUTYH):c.1131G>A (p.Pro377=) rs876659935 0.00002
NM_001079855.2(GYG2):c.40A>C (p.Asn14His) rs577216902 0.00002
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) rs750408686 0.00002
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) rs761674598 0.00002
NM_001148.6(ANK2):c.1020C>T (p.Ala340=) rs757576841 0.00002
NM_001148.6(ANK2):c.11586C>T (p.Leu3862=) rs749279759 0.00002
NM_001148.6(ANK2):c.11616C>T (p.Asp3872=) rs768755447 0.00002
NM_001148.6(ANK2):c.1710A>G (p.Ala570=) rs757515084 0.00002
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=) rs567570285 0.00002
NM_001148.6(ANK2):c.615C>T (p.Thr205=) rs587780852 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001242896.3(DEPDC5):c.2286C>T (p.Asp762=) rs200465447 0.00002
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=) rs369619711 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=) rs775889693 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=) rs768116404 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00002
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser) rs778997084 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001943.5(DSG2):c.57C>T (p.Asn19=) rs587780925 0.00002
NM_001972.4(ELANE):c.687C>T (p.Pro229=) rs199670861 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002495.4(NDUFS4):c.376C>T (p.Leu126=) rs372938532 0.00002
NM_002693.3(POLG):c.3564C>T (p.Cys1188=) rs146584956 0.00002
NM_002693.3(POLG):c.3612T>A (p.Thr1204=) rs1300892439 0.00002
NM_002755.4(MAP2K1):c.900C>T (p.Tyr300=) rs147333830 0.00002
NM_002878.4(RAD51D):c.792C>G (p.Leu264=) rs536544621 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003070.5(SMARCA2):c.1510C>A (p.Arg504=) rs576817778 0.00002
NM_003070.5(SMARCA2):c.210G>A (p.Met70Ile) rs529054959 0.00002
NM_003070.5(SMARCA2):c.2349-15T>A rs777370075 0.00002
NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=) rs758491724 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=) rs373516507 0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=) rs751346548 0.00002
NM_004360.5(CDH1):c.1977G>A (p.Glu659=) rs368243190 0.00002
NM_004360.5(CDH1):c.2103C>T (p.Val701=) rs730881656 0.00002
NM_004360.5(CDH1):c.388-8C>T rs774601444 0.00002
NM_004360.5(CDH1):c.957T>A (p.Ile319=) rs549252135 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004415.4(DSP):c.1677G>A (p.Lys559=) rs143356115 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004958.4(MTOR):c.6585T>C (p.Asp2195=) rs753584607 0.00002
NM_005343.4(HRAS):c.*1C>T rs730880327 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.3347-3C>T rs779326746 0.00002
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=) rs761734539 0.00002
NM_006796.3(AFG3L2):c.1981-14T>C rs765707984 0.00002
NM_007078.3(LDB3):c.162C>T (p.Gly54=) rs757856121 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.5277+20G>A rs766950602 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_015100.4(POGZ):c.1548C>T (p.His516=) rs780830514 0.00002
NM_015340.4(LARS2):c.362A>G (p.Gln121Arg) rs200681375 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_020247.5(COQ8A):c.731-9C>T rs367603340 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) rs769849072 0.00002
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_033337.3(CAV3):c.30G>A (p.Glu10=) rs587780883 0.00002
NM_033360.4(KRAS):c.249C>T (p.Ala83=) rs751117590 0.00002
NM_058216.3(RAD51C):c.-13A>G rs759669075 0.00002
NM_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884 0.00002
NM_058216.3(RAD51C):c.948T>C (p.His316=) rs773196250 0.00002
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_173477.5(USH1G):c.678C>A (p.Gly226=) rs201525855 0.00002
NM_174934.4(SCN4B):c.618G>A (p.Ser206=) rs773921790 0.00002
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.426C>T (p.Phe142=) rs564275776 0.00002
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690 0.00001
NM_000038.6(APC):c.7125A>G (p.Gln2375=) rs587780603 0.00001
NM_000038.6(APC):c.7395T>C (p.Leu2465=) rs369906346 0.00001
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.8151+17C>G rs761029795 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=) rs730881585 0.00001
NM_000059.4(BRCA2):c.1584C>T (p.Asn528=) rs730881587 0.00001
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=) rs755049218 0.00001
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=) rs730881589 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.2823G>A (p.Val941=) rs876659897 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3693T>C (p.Thr1231=) rs751232859 0.00001
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=) rs587780867 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) rs372951842 0.00001
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=) rs1799953 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=) rs28897741 0.00001
NM_000059.4(BRCA2):c.68-17A>G rs1060504621 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=) rs81002826 0.00001
NM_000059.4(BRCA2):c.7683G>A (p.Gln2561=) rs786201304 0.00001
NM_000059.4(BRCA2):c.7805+8A>G rs81002847 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=) rs767912817 0.00001
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=) rs758549180 0.00001
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=) rs730881594 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9257-18C>A rs81002807 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9735A>G (p.Ser3245=) rs773112850 0.00001
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=) rs730881598 0.00001
NM_000071.3(CBS):c.675C>T (p.Asn225=) rs145303290 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000077.5(CDKN2A):c.150+6T>C rs1025333664 0.00001
NM_000094.4(COL7A1):c.2050+16C>T rs749425003 0.00001
NM_000094.4(COL7A1):c.4818+18T>A rs368227259 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242 0.00001
NM_000179.3(MSH6):c.*11T>C rs757708396 0.00001
NM_000179.3(MSH6):c.1176T>C (p.Asp392=) rs587779912 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00001
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=) rs730881820 0.00001
NM_000179.3(MSH6):c.3801+6T>C rs749922503 0.00001
NM_000179.3(MSH6):c.4002-8A>C rs778957100 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=) rs753619991 0.00001
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) rs886039093 0.00001
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=) rs780231722 0.00001
NM_000218.3(KCNQ1):c.888C>T (p.Phe296=) rs768506433 0.00001
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=) rs373183513 0.00001
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=) rs576125279 0.00001
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=) rs562349092 0.00001
NM_000238.4(KCNH2):c.930A>G (p.Pro310=) rs745496986 0.00001
NM_000243.3(MEFV):c.2166G>A (p.Val722=) rs762351424 0.00001
NM_000249.4(MLH1):c.1191G>A (p.Leu397=) rs35164771 0.00001
NM_000249.4(MLH1):c.1452T>C (p.Asp484=) rs587778916 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.762G>A (p.Lys254=) rs863224341 0.00001
NM_000249.4(MLH1):c.884+10C>T rs864622424 0.00001
NM_000249.4(MLH1):c.969G>C (p.Leu323=) rs1553648063 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.1760-7T>C rs972129356 0.00001
NM_000251.3(MSH2):c.2211-15A>T rs776161776 0.00001
NM_000251.3(MSH2):c.639G>A (p.Leu213=) rs751250018 0.00001
NM_000256.3(MYBPC3):c.851+11C>T rs747300127 0.00001
NM_000257.4(MYH7):c.1083C>T (p.Asn361=) rs145091844 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=) rs397516151 0.00001
NM_000257.4(MYH7):c.2862C>T (p.Ile954=) rs982198020 0.00001
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=) rs587781083 0.00001
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=) rs560995739 0.00001
NM_000257.4(MYH7):c.3813C>T (p.Asn1271=) rs767389598 0.00001
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=) rs1424491117 0.00001
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) rs727503243 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658 0.00001
NM_000257.4(MYH7):c.5574G>A (p.Arg1858=) rs529784690 0.00001
NM_000257.4(MYH7):c.5646C>T (p.Ala1882=) rs730880726 0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000257.4(MYH7):c.797-17T>C rs532401716 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000283.4(PDE6B):c.1806C>T (p.Arg602=) rs140849790 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2070C>T (p.Leu690=) rs760619257 0.00001
NM_000335.5(SCN5A):c.3388-15C>T rs781185727 0.00001
NM_000335.5(SCN5A):c.360C>T (p.Ile120=) rs587781158 0.00001
NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=) rs367927086 0.00001
NM_000335.5(SCN5A):c.3909G>A (p.Thr1303=) rs764462471 0.00001
NM_000335.5(SCN5A):c.4533G>A (p.Arg1511=) rs372874010 0.00001
NM_000335.5(SCN5A):c.5235C>T (p.Ala1745=) rs1226880121 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.6003C>T (p.Ala2001=) rs749546972 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054 0.00001
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) rs559450042 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=) rs991342939 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000440.3(PDE6A):c.1473+14G>A rs778440533 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000455.5(STK11):c.1128G>A (p.Glu376=) rs747018506 0.00001
NM_000455.5(STK11):c.464+8C>T rs863224669 0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=) rs730881961 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=) rs769912677 0.00001
NM_000455.5(STK11):c.863-6C>T rs757276643 0.00001
NM_000455.5(STK11):c.882G>A (p.Pro294=) rs587781178 0.00001
NM_000465.4(BARD1):c.2253G>T (p.Arg751=) rs750001065 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000494.4(COL17A1):c.1039C>T (p.Leu347=) rs1489304201 0.00001
NM_000494.4(COL17A1):c.3071-9G>C rs766386228 0.00001
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00001
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000540.3(RYR1):c.3766-6C>A rs748186239 0.00001
NM_000546.6(TP53):c.123T>C (p.Asp41=) rs369129220 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.782+10C>T rs200277687 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=) rs751902029 0.00001
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) rs375813950 0.00001
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=) rs756717724 0.00001
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=) rs763666740 0.00001
NM_000742.4(CHRNA2):c.347G>T (p.Ser116Ile) rs541282922 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.678T>C (p.His226=) rs559935671 0.00001
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 0.00001
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=) rs587781109 0.00001
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=) rs561329680 0.00001
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=) rs587781143 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270 0.00001
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=) rs757310700 0.00001
NM_001040142.2(SCN2A):c.1971C>T (p.Val657=) rs149230197 0.00001
NM_001040142.2(SCN2A):c.2859C>T (p.Val953=) rs139967593 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=) rs752408891 0.00001
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=) rs730881836 0.00001
NM_001048174.2(MUTYH):c.36C>T (p.His12=) rs776396492 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001105206.3(LAMA4):c.1854G>A (p.Gln618=) rs587781014 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001142800.2(EYS):c.5505A>C (p.Ser1835=) rs1172059380 0.00001
NM_001142800.2(EYS):c.6726-12T>C rs545960584 0.00001
NM_001148.6(ANK2):c.1803T>C (p.His601=) rs144016063 0.00001
NM_001148.6(ANK2):c.2364C>T (p.Asn788=) rs769405364 0.00001
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001197104.2(KMT2A):c.7475A>G (p.Asp2492Gly) rs782556163 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=) rs548677252 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.2730C>T (p.Thr910=) rs375432172 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) rs376959563 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001278116.2(L1CAM):c.3543-11T>C rs782225211 0.00001
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001356.5(DDX3X):c.181A>G (p.Ser61Gly) rs778806111 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.3518-3C>T rs543072968 0.00001
NM_001371928.1(AHDC1):c.2943C>T (p.Phe981=) rs555542437 0.00001
NM_001374828.1(ARID1B):c.514C>T (p.His172Tyr) rs751612160 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) rs530742766 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001943.5(DSG2):c.1434A>G (p.Arg478=) rs755732646 0.00001
NM_001943.5(DSG2):c.297T>C (p.Phe99=) rs1045965107 0.00001
NM_001953.5(TYMP):c.621C>T (p.Thr207=) rs1490420014 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002485.5(NBN):c.1890A>C (p.Ser630=) rs587780778 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002693.3(POLG):c.2040G>A (p.Leu680=) rs367740265 0.00001
NM_002693.3(POLG):c.2481-6C>T rs752226219 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_002968.3(SALL1):c.2008T>C (p.Phe670Leu) rs565545750 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.16115C>G (p.Thr5372Ser) rs779587030 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003849.4(SUCLG1):c.627A>C (p.Ala209=) rs587781182 0.00001
NM_004006.3(DMD):c.832-3C>T rs777492476 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004333.6(BRAF):c.193T>C (p.Leu65=) rs866875749 0.00001
NM_004360.5(CDH1):c.114G>C (p.Thr38=) rs786201492 0.00001
NM_004360.5(CDH1):c.1773C>T (p.Asn591=) rs373719554 0.00001
NM_004360.5(CDH1):c.2091G>A (p.Lys697=) rs61747635 0.00001
NM_004360.5(CDH1):c.2322G>A (p.Arg774=) rs150734856 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_004360.5(CDH1):c.870C>T (p.Asp290=) rs755215407 0.00001
NM_004360.5(CDH1):c.879G>A (p.Val293=) rs778959722 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004519.4(KCNQ3):c.-7G>C rs745345051 0.00001
NM_004958.4(MTOR):c.7272C>T (p.Asp2424=) rs549287479 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.240C>T (p.Asn80=) rs1178754602 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005431.2(XRCC2):c.390T>G (p.Leu130=) rs752735963 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001
NM_005633.4(SOS1):c.1956G>A (p.Glu652=) rs1365773428 0.00001
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=) rs766864647 0.00001
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=) rs587781173 0.00001
NM_005633.4(SOS1):c.783C>A (p.Gly261=) rs951992465 0.00001
NM_005654.6(NR2F1):c.*10G>A rs577470913 0.00001
NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=) rs892241767 0.00001
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=) rs746961943 0.00001
NM_006015.6(ARID1A):c.3972C>T (p.Tyr1324=) rs377622327 0.00001
NM_006086.4(TUBB3):c.1336G>A (p.Ala446Thr) rs369454228 0.00001
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00001
NM_006514.4(SCN10A):c.4379G>A (p.Arg1460Gln) rs369399424 0.00001
NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=) rs529845623 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006565.4(CTCF):c.1878G>A (p.Glu626=) rs377527007 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007294.4(BRCA1):c.1026G>A (p.Leu342=) rs1171571879 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=) rs730881452 0.00001
NM_007294.4(BRCA1):c.3306T>C (p.Asn1102=) rs876658664 0.00001
NM_007294.4(BRCA1):c.3717T>A (p.Ser1239=) rs730881453 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4097-20C>T rs80358169 0.00001
NM_007294.4(BRCA1):c.420T>C (p.Ser140=) rs730881448 0.00001
NM_007294.4(BRCA1):c.4419T>A (p.Ser1473=) rs730881455 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790 0.00001
NM_007294.4(BRCA1):c.4676-16C>G rs80358067 0.00001
NM_007294.4(BRCA1):c.4767T>G (p.Arg1589=) rs587780864 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=) rs45519437 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5194-16G>A rs368058346 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.543A>G (p.Glu181=) rs397507250 0.00001
NM_007294.4(BRCA1):c.547+8T>G rs762224894 0.00001
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=) rs786201502 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007327.4(GRIN1):c.264C>T (p.Tyr88=) rs199679287 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_013275.6(ANKRD11):c.5415C>T (p.Val1805=) rs549029103 0.00001
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=) rs139103143 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014727.3(KMT2B):c.3813C>T (p.Cys1271=) rs371853461 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015559.3(SETBP1):c.4465C>T (p.Pro1489Ser) rs528411087 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_018109.4(MTPAP):c.1036C>T (p.Leu346=) rs775249623 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 0.00001
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly) rs562843129 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2163A>C (p.Thr721=) rs587781105 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_030662.4(MAP2K2):c.621G>A (p.Glu207=) rs397517416 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_031475.3(ESPN):c.1894C>T (p.Arg632Cys) rs543768706 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=) rs761017296 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 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.2257+17T>C rs730881639 0.00001
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=) rs148752066 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_144991.3(TSPEAR):c.57C>T (p.Gly19=) rs547861049 0.00001
NM_144991.3(TSPEAR):c.72G>A (p.Glu24=) rs541177837 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00001
NM_172201.2(KCNE2):c.261C>T (p.Tyr87=) rs587781005 0.00001
NM_175875.5(SIX5):c.1978G>A (p.Ala660Thr) rs549777158 0.00001
NM_182476.3(COQ6):c.164-11del rs200558787 0.00001
NM_198999.3(SLC26A5):c.2184T>G (p.Pro728=) rs534530722 0.00001
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=) rs113805451 0.00001
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) rs546494522 0.00001
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
MYH11:c.503-14_503-12del rs141564071
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000037.4(ANK1):c.*385del rs112209933
NM_000038.6(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-17dup rs35031194
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4962T>C (p.Ala1654=) rs551322279
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.7308A>G (p.Val2436=) rs1220693522
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.934-17del rs762333924
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_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.171GCA[26] (p.Gln78_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000051.4(ATM):c.-30-5dup rs745673370
NM_000051.4(ATM):c.1066-31dup rs35813860
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.6573-42del rs11366542
NM_000051.4(ATM):c.7158A>G (p.Ala2386=) rs2136414393
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000057.4(BLM):c.3210+44del rs3214113
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3213T>C (p.His1071=) rs863224304
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.516+17G>T rs765435155
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7137A>G (p.Gly2379=) rs730881593
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.741C>T (p.Ile247=) rs276174892
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.4(BRCA2):c.837C>T (p.Cys279=) rs587781421
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.9257-10del rs276174919
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000085.5(CLCNKB):c.2017-16C>T rs61769892
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000103.4(CYP19A1):c.603G>T (p.Thr201=) rs774856159
NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu) rs73419912
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000137.4(FAH):c.*51del rs200464452
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.3589+11TTTTA[5] rs72158035
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5423-30_5423-28del rs56354352
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000158.4(GBE1):c.1447-40dup rs11376242
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000173.7(GP1BA):c.1305_1320del (p.Thr436fs) rs758041497
NM_000179.3(MSH6):c.-6G>T rs730881822
NM_000179.3(MSH6):c.2019A>G (p.Pro673=) rs863224327
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2268A>C (p.Gly756=) rs142246608
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.2958C>T (p.Thr986=) rs757866392
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3173-18T>A rs189672273
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.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=) rs398123231
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.366G>A (p.Glu122=) rs774303198
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4002-10del rs59056100
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
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[9] rs3835070
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103
NM_000231.3(SGCG):c.*136T>C rs3751372
NM_000231.3(SGCG):c.579-22G>T rs111358030
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000238.4(KCNH2):c.-29GGCCCGCCC[1] rs754605400
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=) rs372725107
NM_000238.4(KCNH2):c.2217C>T (p.His739=) rs2116950393
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000243.3(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1039-33_1039-26del rs766706153
NM_000249.4(MLH1):c.1039-6dup rs1553650466
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1359G>A (p.Lys453=) rs756099600
NM_000249.4(MLH1):c.2235C>T (p.Asn745=) rs864622677
NM_000251.3(MSH2):c.1661+17T>G rs377461923
NM_000251.3(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.1071C>T (p.Arg357=) rs371308153
NM_000256.3(MYBPC3):c.1404G>A (p.Gly468=) rs1595846367
NM_000256.3(MYBPC3):c.1431A>G (p.Val477=) rs587781042
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) rs11570046
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=) rs779978846
NM_000257.4(MYH7):c.5400C>T (p.Ala1800=) rs556490774
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=) rs142844109
NM_000257.4(MYH7):c.797-19_797-17del rs372245426
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000266.3(NDP):c.-421_-408CTCTCTCTCTCTCC[1] rs770996360
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000293.3(PHKB):c.1881-52_1881-49del rs3830242
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.2437-7T>C rs1012068196
NM_000335.5(SCN5A):c.2787+17C>A rs587781163
NM_000335.5(SCN5A):c.3508+12G>A rs587781164
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=) rs587781165
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731
NM_000335.5(SCN5A):c.900C>G (p.Val300=) rs1414137302
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
NM_000350.3(ABCA4):c.67-11T>G rs1662657188
NM_000350.3(ABCA4):c.729T>C (p.Thr243=) rs2101135548
NM_000350.3(ABCA4):c.859-11C>T rs61753053
NM_000360.4(TH):c.313-38_313-35del rs200462975
NM_000363.5(TNNI3):c.-98C>A rs12973773
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000377.3(WAS):c.273+11dup rs58371799
NM_000381.4(MID1):c.661-7del rs375668839
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup) rs745520533
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.186G>C (p.Ser62=) rs1310417118
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000406.2(GNRHR):c.-1542delT rs34993359
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
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.5072-6del rs398123376
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000440.3(PDE6A):c.*241dup rs36043437
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000444.6(PHEX):c.399G>A (p.Gln133=) rs1602273860
NM_000453.3(SLC5A5):c.*276_*277insCTTT rs201684511
NM_000454.5(SOD1):c.169+52_169+58del rs541000032
NM_000455.5(STK11):c.464+32CGGGGGC[3] rs58579265
NM_000455.5(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.5(STK11):c.558C>T (p.Thr186=) rs749563734
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.747C>T (p.Thr249=) rs759546076
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.216-15_216-14del rs56130510
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000494.4(COL17A1):c.3051C>T (p.Tyr1017=) rs2134579223
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000514.4(GDNF):c.*131GGA[10] rs150577324
NM_000515.5(GH1):c.-4T>G rs6173
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.941-4G>A
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.299-34dup rs398122026
NM_000535.6(PMS2):c.-33C>T rs562800874
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.989-21_989-20del rs745927005
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.631+39dup rs35018208
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.96+15_96+31del rs730882011
NM_000546.6(TP53):c.993+326_993+341del rs730882013
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4663-16_4663-15del rs796053477
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=) rs374468402
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=) rs369254461
NM_000722.4(CACNA2D1):c.659-4_659-3del rs370103843
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=) rs45564639
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.821-52_821-18del rs530117757
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG rs758718643
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_000791.4(DHFR):c.-437GGGGCGCTG[1] rs60484572
NM_000821.7(GGCX):c.1889-17_1889-16del rs528396383
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=) rs767844416
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000942.5(PPIB):c.*204dup rs202080377
NM_001001557.4(GDF6):c.407-39C>T rs77859767
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005361.3(DNM2):c.590-31CCTCTGA[3] rs748362325
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001010874.5(TECRL):c.552-13dup rs577970051
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907
NM_001018.5(RPS15):c.140G>C (p.Arg47Pro) rs201657403
NM_001018005.1(TPM1):c.-186G>A rs541046450
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.87G>A (p.Lys29=) rs530234301
NM_001018111.3(PODXL):c.66GTCGCC[2] (p.24PS[2]) rs11277659
NM_001018115.3(FANCD2):c.3466+36dup rs371321981
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001032221.6(STXBP1):c.1548-7_1548-4del rs796053349
NM_001032221.6(STXBP1):c.6C>A (p.Ala2=) rs144094037
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1]) rs782547972
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.11092-11del rs397516499
NM_001035.3(RYR2):c.11092-11dup rs397516499
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC rs747260754
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=) rs1553514916
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.6792+50G>A rs41305973
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001037.5(SCN1B):c.207+19C>T rs201872896
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913
NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile) rs1555771695
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001040108.2(MLH3):c.3570+29AT[10] rs145063005
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001042432.1(CLN3):c.-376_-371delTGAAGC rs72224211
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042472.3(ABHD12):c.189C>G (p.Gly63=) rs567546607
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.6148-28del rs398100472
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001065.4(TNFRSF1A):c.219A>G (p.Pro73=) rs1469912868
NM_001077350.3(NPRL3):c.-67-2A>T rs2857995
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001080449.3(DNA2):c.1058-6del rs201474338
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080476.3(GRXCR1):c.190G>A (p.Gly64Ser) rs370551174
NM_001080517.3(SETD5):c.1910A>C (p.Asn637Thr) rs201561587
NM_001080517.3(SETD5):c.3894C>A (p.Ser1298=) rs535076039
NM_001080517.3(SETD5):c.3929C>T (p.Ser1310Leu) rs201582360
NM_001080779.2(MYO1C):c.2853G>A (p.Glu951=) rs138350458
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298
NM_001101426.4(CRPPA):c.*73TG[5] rs139003391
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001113378.2(FANCI):c.3721-127_3721-126insGTACAA rs55725136
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg) rs80354176
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001129.5(AEBP1):c.1018+4_1018+7del rs376965157
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.1044-9_1044-8del rs59599980
NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=) rs530293931
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.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134673.4(NFIA):c.1255-6_1255-5del rs58081092
NM_001134673.4(NFIA):c.1255-7C>A rs200406628
NM_001134673.4(NFIA):c.1255-9C>G rs374963406
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.3569-6G>T rs940919017
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001144967.3(NEDD4L):c.1106C>G (p.Thr369Arg) rs199527463
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) rs368946018
NM_001148.6(ANK2):c.2646T>C (p.Asp882=) rs1203137650
NM_001148.6(ANK2):c.4237C>T (p.Leu1413=) rs878854259
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001184.4(ATR):c.4852+21C>T rs587783332
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001197104.2(KMT2A):c.7070C>G (p.Pro2357Arg) rs9332838
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=) rs201080304
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=) rs35265801
NM_001205293.3(CACNA1E):c.1638+10C>A rs371576889
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001242896.3(DEPDC5):c.1218-5del rs758572377
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
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_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10dup rs749872538
NM_001267550.2(TTN):c.11311+1079_11311+1080del rs58651353
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
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.40222+2TA[10] rs10580462
NM_001267550.2(TTN):c.40222+2TA[12] rs10580462
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.51991G>C (p.Glu17331Gln) rs547986881
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC rs2154190692
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=) rs751627427
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser) rs370568740
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.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.9472-19del rs201990196
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.68-3C>T rs587780970
NM_001276345.2(TNNT2):c.68-5del rs2102295381
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278064.2(GRM1):c.950+8TC[14] rs72225459
NM_001278064.2(GRM1):c.950+8TC[17] rs72225459
NM_001278064.2(GRM1):c.950+8TC[18] rs72225459
NM_001278182.2(EOMES):c.360CGC[8] (p.Ala130dup) rs3062761
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001286445.3(RIPOR2):c.1152C>G (p.Asp384Glu) rs371651657
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001286577.2(C2CD3):c.5496-6del rs747090151
NM_001288705.3(CSF1R):c.2132+5C>T rs17110908
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291088.2(WDR87):c.6925_6927del (p.Lys2309del) rs139099315
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001303052.2(MYT1L):c.1053G>T (p.Pro351=) rs13399855
NM_001303052.2(MYT1L):c.3080+12C>A rs188284453
NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup) rs148009982
NM_001330078.2(NRXN1):c.3365-109930GCG[6] rs750165040
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser) rs34001856
NM_001332.4(CTNND2):c.656CGC[9] (p.Pro226dup) rs557341981
NM_001332.4(CTNND2):c.735CGC[8] (p.Ala250_Ala251dup) rs578098885
NM_001348716.2(KDM6B):c.2253CAC[9] (p.Thr761_Thr762del) rs59627144
NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del) rs61462443
NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup) rs61462443
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001349206.2(LPIN1):c.958TCT[2] (p.Ser322del) rs149564563
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001365276.2(TNXB):c.11264-48A>G rs2856450
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235
NM_001365536.1(SCN9A):c.2874+11_2874+13delinsTT rs1553487749
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001368894.2(PAX6):c.*21del (p.Ter437=) rs759391101
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371928.1(AHDC1):c.248C>G (p.Pro83Arg) rs751027836
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg) rs776465786
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=) rs151218177
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001372.4(DNAH9):c.44_68dup (p.Arg24fs) rs761517350
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.1689-3C>T rs565420289
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3766C>A (p.Pro1256Thr) rs200188413
NM_001374828.1(ARID1B):c.1058CCG[6] (p.Ala357dup) rs766956053
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[7] (p.Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1194AGG[5] (p.Gly402dup) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[10] (p.Gly410_Gly411dup) rs747790383
NM_001374828.1(ARID1B):c.1211GAG[11] (p.Gly409_Gly411dup) 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.1238GAGCAGGAG[1] (p.413GAG[1]) rs771557031
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup) rs797045267
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.1619CGG[3] (p.Ala543del) rs757953295
NM_001374828.1(ARID1B):c.1942C>A (p.Arg648=) rs143370913
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup) rs770512547
NM_001374828.1(ARID1B):c.4270A>G (p.Met1424Val) rs144029881
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln207_Gln214dup) rs770869529
NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln212_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_001375405.1(CEP120):c.779G>A (p.Arg260His) rs189429890
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378183.1(PIEZO2):c.5598G>C (p.Thr1866=) rs78023192
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
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[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378964.1(CDON):c.2363-37GTT[3] rs138741332
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001457.4(FLNB):c.3724+36del rs56147140
NM_001458.5(FLNC):c.2199C>G (p.Thr733=) rs200655185
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001673.5(ASNS):c.775+18_775+19dup rs36021744
NM_001759.4(CCND2):c.802G>A (p.Gly268Arg) rs3217921
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001830.4(CLCN4):c.948C>T (p.Leu316=) rs746958474
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.519+39del rs137881116
NM_001853.4(COL9A3):c.1215+36dup rs397840562
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.652-18_652-16dup rs36076089
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001931.5(DLAT):c.381+22dup rs5794771
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=) rs771104963
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001972.4(ELANE):c.606C>T (p.Ser202=) rs17216649
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053
NM_002016.2(FLG):c.2938C>G (p.His980Asp) rs12756586
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp) rs192116923
NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser) rs61690342
NM_002016.2(FLG):c.9315C>T (p.Tyr3105=) rs200815866
NM_002067.5(GNA11):c.889+8G>C rs73527836
NM_002072.5(GNAQ):c.736-18dup rs5898555
NM_002075.4(GNB3):c.699+114_699+115insC rs1555124071
NM_002075.4(GNB3):c.699+115A>T rs11064426
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro) rs61734387
NM_002180.3(IGHMBP2):c.1538-20C>T rs147148090
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002241.5(KCNJ10):c.*1970GT[23] rs56656397
NM_002281.4(KRT81):c.946C>T (p.Arg316Cys) rs4761786
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002439.5(MSH3):c.1764-9_1764-8del rs41559616
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5796+32del rs147333978
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-8C>G rs555976716
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002485.5(NBN):c.1124+11_1124+13del rs747584990
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) rs6496589
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.-200del rs150780058
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-14T>C rs587781119
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+19G>T rs5746245
NM_002880.4(RAF1):c.531C>T (p.Ser177=) rs2059119009
NM_002880.4(RAF1):c.60C>T (p.Ala20=) rs755869970
NM_002906.4(RDX):c.-64-6del rs61003001
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.3535-44CT[6] rs142249003
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.76+26AC[5] rs200502187
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003051.4(SLC16A1):c.362-58TATT[11] rs149491709
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003098.3(SNTA1):c.567A>T (p.Ser189=) rs552315106
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003126.4(SPTA1):c.-126dup rs34783066
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003238.6(TGFB2):c.933-6del rs11285412
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.493-11_493-8del rs528068364
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12999G>T (p.Glu4333Asp) rs767696694
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1961C>A (p.Ser654Tyr) rs747101567
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003661.4(APOL1):c.188-14T>G rs136163
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003737.4(DCHS1):c.76CTG[9] (p.Leu33dup) rs72555381
NM_003849.3(SUCLG1):c.-39C>G rs144946502
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_003922.4(HERC1):c.4464-25dup rs369792267
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_004006.3(DMD):c.1869C>G (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2331G>C (p.Leu777=) rs369659071
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.3(DMD):c.3603+15del rs5902031
NM_004006.3(DMD):c.3603+3dup rs5902031
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004086.3(COCH):c.239+80del rs111033189
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004168.4(SDHA):c.622-13del rs3835068
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004247.4(EFTUD2):c.272-8del rs557631650
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004318.4(ASPH):c.791-15dup rs34108497
NM_004333.6(BRAF):c.1330C>A (p.Arg444=) rs121913371
NM_004333.6(BRAF):c.2128-16C>T rs368721021
NM_004333.6(BRAF):c.608+19G>C rs200908826
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004357.5(CD151):c.277-3dup rs540411150
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1711+9G>C rs368770384
NM_004360.5(CDH1):c.2205G>A (p.Ala735=) rs138493551
NM_004360.5(CDH1):c.408A>G (p.Gln136=) rs1060501229
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004393.6(DAG1):c.-116-4dup rs200455639
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.2437-11del rs727502998
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del) rs71369530
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004525.3(LRP2):c.402C>A (p.Pro134=) rs34104660
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) rs34693334
NM_004544.4(NDUFA10):c.1000-10del rs863224081
NM_004562.3(PRKN):c.172-18T>A rs778021436
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004612.4(TGFBR1):c.1387-15del rs752215820
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004738.5(VAPB):c.-149dup rs546898989
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004960.3(FUS):c.521_523+3dup6
NM_004960.4(FUS):c.518_523del
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=) rs78349687
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln) rs193922928
NM_004999.4(MYO6):c.*4113dup rs138193115
NM_004999.4(MYO6):c.*4423AATT[1] rs10547766
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005027.4(PIK3R2):c.872A>G (p.His291Arg) rs558189276
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-8_5211-7del rs34125550
NM_005045.4(RELN):c.8668-32_8668-29del rs745709647
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005097.4(LGI1):c.432-6_432-5dup rs61662431
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005159.4(ACTC1):c.*214G>A rs540240407
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.616+5GT[4] rs749539033
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005359.6(SMAD4):c.1139+44T>C rs28539779
NM_005359.6(SMAD4):c.904+45del rs386387676
NM_005359.6(SMAD4):c.904+45dup rs386387676
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005431.2(XRCC2):c.726C>T (p.Ser242=) rs2116987114
NM_005431.2(XRCC2):c.825T>C (p.Ser275=) rs770438650
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005548.3(KARS1):c.223-23dup rs370077957
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005631.5(SMO):c.49CTG[8] (p.Leu23dup) rs570242755
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005732.4(RAD50):c.3476-18TTC[2] rs730881922
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=) rs775989174
NM_005751.5(AKAP9):c.813C>T (p.Leu271=) rs776451600
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del) rs754074166
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup) rs754074166
NM_005859.5(PURA):c.450C>G (p.Arg150=) rs201822080
NM_005984.5(SLC25A1):c.95-70G>C rs558632091
NM_005989.4(AKR1D1):c.379-4del rs35402657
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup) rs759913677
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006031.6(PCNT):c.2610-50T>A rs9637173
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.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly) rs3739510
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys) rs386738959
NM_006059.4(LAMC3):c.3070-18dup rs34910694
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006059.4(LAMC3):c.522C>G (p.Pro174=) rs2275136
NM_006059.4(LAMC3):c.855A>G (p.Ala285=) rs2275132
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006208.3(ENPP1):c.313+9GT[16] rs59956343
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[21] rs59956343
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.4952+17_4952+19dup rs571641918
NM_006245.4(PPP2R5D):c.323-4A>G rs368528223
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006393.3(NEBL):c.2519-2del rs754453916
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006446.4(SLCO1B1):c.359+10[16] rs4149095
NM_006514.4(SCN10A):c.5605C>T (p.Arg1869Cys) rs141648641
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.679+4C>A rs139492241
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006766.5(KAT6A):c.4940AGC[5] (p.Gln1650dup) rs542184116
NM_006766.5(KAT6A):c.4953_4976del (p.Pro1652_Pro1659del) rs779701073
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1]) rs774101585
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006828.4(ASCC3):c.1396-3del rs11345864
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del) rs111662216
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=) rs752415111
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.896+6669TC[11] rs71019410
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_007103.4(NDUFV1):c.701-20C>G rs371709474
NM_007118.4(TRIO):c.3948+26_3948+27dup rs57751910
NM_007118.4(TRIO):c.6611A>G (p.Lys2204Arg) rs141648983
NM_007118.4(TRIO):c.9174G>T (p.Thr3058=) rs138380178
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3975G>A (p.Arg1325=) rs761424661
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+64del rs72434991
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_013254.4(TBK1):c.1341-3del rs201728462
NM_013254.4(TBK1):c.1954_1956del (p.Asn652del) rs141727722
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.3889_3891dup (p.Asn1297dup) rs778998883
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del) rs778347369
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile) rs151288302
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=) rs542077760
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val) rs576742682
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946
NM_014208.3(DSPP):c.3363_3371del (p.Asn1122_Ser1124del) rs1448251809
NM_014208.3(DSPP):c.3695A>G (p.Asn1232Ser) rs111876111
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-27_346-12del rs751818504
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-43AT[9] rs60406118
NM_014391.3(ANKRD1):c.652-13del rs3839929
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014727.3(KMT2B):c.3529-3dup rs539483328
NM_014727.3(KMT2B):c.6249G>T (p.Thr2083=) rs375564425
NM_014727.3(KMT2B):c.647C>G (p.Pro216Arg) rs200386275
NM_014727.3(KMT2B):c.7297+7G>T rs201555369
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014915.3(ANKRD26):c.1986-3dup rs113123391
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu) rs145570114
NM_015158.5(KANK1):c.3554-10_3554-5del rs58169581
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=) rs12128526
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015295.3(SMCHD1):c.1843-17dup rs377473058
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.16AAG[3] (p.Lys9del) rs752094508
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) rs576363906
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015559.3(SETBP1):c.4590GCCGCCACC[1] (p.Pro1535_Pro1537del) rs777582770
NM_015570.4(AUTS2):c.3377ACC[5] (p.His1131_His1133del) rs538005366
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val) rs150926322
NM_015570.4(AUTS2):c.921C>T (p.Pro307=) rs2129556968
NM_015697.9(COQ2):c.64A>C (p.Arg22=) rs112033303
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016103.4(SAR1B):c.244+9C>T rs200681744
NM_016203.4(PRKAG2):c.1005+8G>C rs1245068890
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=) rs730880971
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.4038+8GT[25] rs59214589
NM_016239.4(MYO15A):c.4038+8GT[26] rs59214589
NM_016239.4(MYO15A):c.4038+8GT[31] rs59214589
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017433.5(MYO3A):c.1104_1105delinsTA (p.Val369Ile) rs386742102
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5]) rs754008809
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[6] (p.26DFGGG[6]) rs754008809
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.386+41C>G rs62036933
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017755.5(NSUN2):c.-217delT rs8192124
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017757.3(ZNF407):c.4507T>C (p.Leu1503=) rs12327359
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup) rs551671819
NM_017827.4(SARS2):c.393+149del rs375344827
NM_017882.3(CLN6):c.*141GT[13] rs3837692
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018075.5(ANO10):c.1219-23dup rs367784953
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018109.3(MTPAP):c.-5del rs749648774
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018429.3(BDP1):c.3043A>C (p.Thr1015Pro) rs187541686
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018972.4(GDAP1):c.-51_-49del rs201803887
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_019066.5(MAGEL2):c.1386_1406del (p.Ala463_Pro469del) rs1273738588
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019098.5(CNGB3):c.494-11dup rs36008065
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
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_020066.5(FMN2):c.3492A>T (p.Pro1164=) rs778804893
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.2475G>A (p.Ala825=) rs587780845
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020451.3(SELENON):c.1092+6C>G rs148071754
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020699.4(GATAD2B):c.729+10C>G rs753734177
NM_020751.3(COG6):c.-17dup rs67765306
NM_020822.3(KCNT1):c.2944-52CTCC[4] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020928.2(ZSWIM6):c.477GGCCGCAACCTCGGC[1] (p.162TSAAA[1]) rs541338051
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup) rs528020839
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=) rs3750800
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp) rs142005939
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_021957.4(GYS2):c.1890+25del rs36023861
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del) rs371633333
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024598.4(USB1):c.*317CT[5] rs58782258
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2607C>A (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.3202-8G>T rs367979106
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
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.642+22C>G rs138785890
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758
NM_025099.5(CTC1):c.-62dupC rs372313776
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+30del rs11358611
NM_025114.4(CEP290):c.5709+45G>C rs45477793
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025219.3(DNAJC5):c.*2723A>G rs76769576
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_030632.3(ASXL3):c.1245G>T (p.Glu415Asp) rs369775948
NM_030632.3(ASXL3):c.6072T>C (p.Pro2024=) rs772621870
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.4(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.4(MAP2K2):c.651C>G (p.Gly217=) rs2145054110
NM_030662.4(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.982G>A (p.Val328Ile) rs543870015
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031443.4(CCM2):c.*14G>T rs116320627
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.380-28G>A rs4988343
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18433-5dup rs35858094
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
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_032119.4(ADGRV1):c.8730+21dup rs60522638
NM_032122.5(DTNBP1):c.355+21G>C rs16876738
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.4739+79G>A rs74762428
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033337.3(CAV3):c.*813del rs66667169
NM_033337.3(CAV3):c.-31A>G rs917823409
NM_033337.3(CAV3):c.115-45_115-29del rs116840772
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033337.3(CAV3):c.402G>A (p.Ala134=) rs559206877
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_052989.3(IFT122):c.273-417del rs201674500
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053274.3(GLMN):c.40-6del rs372630078
NM_053274.3(GLMN):c.40-6dup rs372630078
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_078470.6(COX15):c.988-8C>A rs542092025
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133261.3(GIPC3):c.706-3dup rs200925508
NM_133379.5(TTN):c.11806C>A (p.Arg3936=) rs147087155
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_138425.4(C12orf57):c.229+25_229+43del rs199730337
NM_138638.5(CFL2):c.312-7del rs35515423
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup) rs398124508
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139215.3(TAF15):c.1351_1377del (p.442SGGGYGGDR[1]) rs745996982
NM_139215.3(TAF15):c.1380_1403del (p.454GYGGDRGG[3]) rs768749438
NM_139215.3(TAF15):c.1422_1445del (p.454_461GYGGDRGG[3]) rs779199064
NM_139215.3(TAF15):c.1524_1544dup (p.492GGYGGDR[6]) rs760281454
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln) rs34507711
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139281.3(WDR36):c.1717-20_1717-19insATATA rs33919278
NM_144573.4(NEXN):c.299-14del rs397517855
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_152268.4(PARS2):c.103AGA[1] (p.Arg36del) rs751997497
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=) rs113557846
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152594.3(SPRED1):c.207+37A>G rs2272105
NM_152783.5(D2HGDH):c.293-18A>G rs4073889
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172245.4(CSF2RA):c.*49G>T rs28722602
NM_172362.3(KCNH1):c.1311A>G (p.Ser437=) rs569479235
NM_172362.3(KCNH1):c.1797G>A (p.Thr599=) rs147586251
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_172362.3(KCNH1):c.80-7_80-6del rs56223346
NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA rs886054264
NM_173560.4(RFX6):c.1782C>T (p.His594=) rs4946206
NM_173630.4(RTTN):c.4303-24_4303-11del rs531741265
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173660.5(DOK7):c.100+36del rs566267525
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) rs776060230
NM_176824.3(BBS7):c.934+31_934+34del rs111713350
NM_177402.5(SYT2):c.465+20_465+21del rs55968420
NM_177438.3(DICER1):c.2040+54dup rs141723381
NM_177438.3(DICER1):c.4206+9GT[13] rs71838494
NM_177438.3(DICER1):c.4206+9GT[19] rs71838494
NM_177924.5(ASAH1):c.216+46_216+47insTTA rs34859055
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_178138.6(LHX3):c.*104del rs146678449
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262
NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val) rs141205444
NM_178857.6(RP1L1):c.3983_3984insGGGGACTAAAGTAAT (p.Glu1328_Glu1329insGlyThrLysValIle) rs760634189
NM_182548.4(LHFPL5):c.-298AG[1] rs67478220
NM_182641.4(BPTF):c.8035GCCCCTCCA[5] (p.2676APP[6]) rs60308484
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182914.3(SYNE2):c.1129-6_1129-4del rs34440267
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_182961.4(SYNE1):c.20068-29dup rs36215566
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.4788+26_4788+28del rs71659863
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_198076.6(COX20):c.7G>T (p.Ala3Ser) rs201152357
NM_198129.4(LAMA3):c.8708+7G>C rs1467571507
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198904.4(GABRG2):c.327+12A>C rs188717038
NM_198904.4(GABRG2):c.631+1209TTGTT[5] rs1247520830
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201525.4(ADGRG1):c.1665-41C>T rs17240890
NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_201548.5(CERKL):c.239-4dup rs201864646
NM_201596.3(CACNB2):c.*33_*35del rs34022725
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207352.4(CYP4V2):c.*210dup rs199938898
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*1890AAGA[1] rs397786204
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_178195.1(LFNG):n.265_268GATG[6] rs34637446
NR_178195.1(LFNG):n.265_268GATG[8] rs34637446
Single allele rs1556502214

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.