ClinVar Miner

Variants with conflicting interpretations "benign" from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center and "likely benign" from any submitter

Minimum review status of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center: Collection method of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2351
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
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_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
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_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
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_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79529
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
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_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
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_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
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_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_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
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_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
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_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_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
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_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
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_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
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_006059.4(LAMC3):c.963C>T (p.Ala321=) rs2275131 0.40359
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_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
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_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.37206
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
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_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
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_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
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_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
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_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_006059.4(LAMC3):c.521C>A (p.Pro174His) rs2275137 0.29468
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108 0.28739
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_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
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_177438.3(DICER1):c.4206+9G>T rs1778057 0.25695
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
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_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
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_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_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_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
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_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
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_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
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_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
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_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
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_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
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_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343 0.12936
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
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_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) rs482227 0.11098
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
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_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
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_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_030653.4(DDX11):c.1415-7T>C rs61917225 0.08122
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
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_003560.4(PLA2G6):c.209+16C>T rs2267368 0.07814
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
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_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
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_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_015268.4(DNAJC13):c.4157-13T>G rs78526588 0.06240
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
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_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
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_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
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.442-19T>A rs113132803 0.05334
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04825
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
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_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) rs79953286 0.04591
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04382
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_025233.7(COASY):c.1486-5C>G rs74886553 0.04354
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
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_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
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_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03735
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
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_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_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
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_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
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_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
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_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_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_021999.5(ITM2B):c.81C>T (p.Leu27=) rs11556899 0.03334
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.03076
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02889
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_130797.4(DPP6):c.226G>A (p.Asp76Asn) rs569787719 0.02864
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02658
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02652
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02377
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val) rs372044027 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 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_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
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_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 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_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
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_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 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_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
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_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
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_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
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_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_017739.4(POMGNT1):c.1540-16C>T rs10493123 0.02014
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 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_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_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
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_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=) rs34652877 0.01902
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
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_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
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_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser) rs55825559 0.01828
NM_177438.3(DICER1):c.4206+9_4206+17del rs772457274 0.01816
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_016516.3(VPS54):c.2228+13T>G rs183006584 0.01801
NM_016516.3(VPS54):c.2228+14T>A rs190823081 0.01801
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_000265.7(NCF1):c.496A>G (p.Asn166Asp) rs782555266 0.01786
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
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_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
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_001278495.2(NUTM2B):c.2027T>C (p.Met676Thr) rs61863495 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp) rs543580 0.01739
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 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_000256.3(MYBPC3):c.926+25C>A rs3729991 0.01693
NM_001267550.2(TTN):c.37202-4T>C rs202032281 0.01693
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
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_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_198241.3(EIF4G1):c.4395+5G>A rs16858676 0.01586
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000256.3(MYBPC3):c.1897+47G>A rs11570086 0.01559
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
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_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_003194.5(TBP):c.231_243del (p.Gln77fs) rs771725566 0.01524
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
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_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
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_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
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_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
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_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp) rs80127039 0.01399
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001382430.1(AKT1):c.567+14G>A rs3730345 0.01364
NM_000257.4(MYH7):c.1408-42del rs45490796 0.01363
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
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_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001276345.2(TNNT2):c.851+22C>T rs45495692 0.01327
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser) rs201474544 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
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_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_003476.5(CSRP3):c.415-30T>C rs7103779 0.01252
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
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_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=) rs116489157 0.01156
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
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_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_030665.4(RAI1):c.840_849del (p.Gln280fs) rs760854027 0.01119
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_017763.6(RNF43):c.2280G>A (p.Pro760=) rs61746279 0.01112
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_213622.4(STAMBP):c.921G>T (p.Gly307=) rs77000353 0.01095
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
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_001846.4(COL4A2):c.1340-20A>C rs9515217 0.01061
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_001177693.2(ARHGEF28):c.840+9A>G rs143387976 0.01039
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.01027
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_007078.3(LDB3):c.1231+24G>A rs45477098 0.00986
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro) rs587780306 0.00981
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
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_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_001018005.2(TPM1):c.851+99dup rs201411148 0.00955
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
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_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_020297.4(ABCC9):c.*19T>C rs114906131 0.00935
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_002016.2(FLG):c.6073G>A (p.Gly2025Arg) rs144517370 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
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_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met) rs57816762 0.00893
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) rs2228531 0.00884
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp) rs139654750 0.00880
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_014339.7(IL17RA):c.1819G>A (p.Glu607Lys) rs28376631 0.00845
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 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_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504 0.00817
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
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_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_001348800.3(ZBTB20):c.154A>G (p.Thr52Ala) rs72950611 0.00790
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_001018005.2(TPM1):c.639+22G>C rs28730802 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_003922.4(HERC1):c.570C>T (p.Asn190=) rs2228514 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_014000.3(VCL):c.2950-22C>G rs71579378 0.00753
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_000059.4(BRCA2):c.8632+132dup rs201392123 0.00742
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 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_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln) rs73585360 0.00719
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 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_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
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_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
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_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
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_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549 0.00678
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_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His) rs61748103 0.00674
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_173689.7(CRB2):c.137C>T (p.Pro46Leu) rs73571404 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
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_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr) rs150010190 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_020812.4(DOCK6):c.4933G>A (p.Val1645Ile) rs34853494 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001367233.3(HEPH):c.1696G>A (p.Gly566Ser) rs35835670 0.00640
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_152468.5(TMC8):c.279G>A (p.Gly93=) rs201749146 0.00640
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
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_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs) rs587780460 0.00605
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met) rs73946020 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_001292034.3(TAB2):c.1128G>A (p.Thr376=) rs34220315 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_001349253.2(SCN11A):c.757C>T (p.Leu253=) rs36084747 0.00591
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_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_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_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg) rs114142691 0.00579
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001556.3(IKBKB):c.2028G>A (p.Met676Ile) rs78448523 0.00575
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn) rs139350480 0.00572
NM_005619.5(RTN2):c.1143G>A (p.Ala381=) rs45532933 0.00572
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 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_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
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_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_015047.3(EMC1):c.2886C>T (p.Tyr962=) rs34350799 0.00555
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 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_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001942.4(DSG1):c.2914G>A (p.Gly972Ser) rs1042755 0.00549
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu) rs149922601 0.00545
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156 0.00541
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_005535.3(IL12RB1):c.783+10C>T rs79972275 0.00537
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
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_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) rs140307393 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_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_019066.5(MAGEL2):c.2633C>T (p.Pro878Leu) rs2233067 0.00519
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) rs73394756 0.00510
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457 0.00503
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 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_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001846.4(COL4A2):c.3634+13G>A rs188658233 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001378778.1(MPDZ):c.2458C>G (p.Leu820Val) rs73647114 0.00482
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_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 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_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
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_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 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_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln) rs192520307 0.00458
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_000213.5(ITGB4):c.2730C>T (p.Ala910=) rs61735292 0.00454
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_006197.4(PCM1):c.2715C>T (p.Asp905=) rs34504407 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_015047.3(EMC1):c.719C>T (p.Pro240Leu) rs141614470 0.00450
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln) rs140883567 0.00446
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001261826.3(AP3D1):c.857-3C>T rs202003533 0.00437
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg) rs61744921 0.00430
NM_004371.4(COPA):c.2263+7A>G rs116596416 0.00427
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_002317.7(LOX):c.740+6G>A rs41478244 0.00424
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) rs114786489 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_000273.3(GPR143):c.570C>T (p.His190=) rs61733440 0.00420
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) rs115814032 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_001364171.2(ODAD1):c.856G>A (p.Gly286Arg) rs73942222 0.00411
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met) rs147554257 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544 0.00405
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg) rs143688446 0.00396
NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser) rs140516386 0.00395
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 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_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_001807.6(CEL):c.1828T>G (p.Ser610Ala) rs1252154279 0.00382
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His) rs113045747 0.00379
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 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_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_001330691.3(CEP78):c.35C>T (p.Ala12Val) rs182452644 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_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001793.6(CDH3):c.2281-44G>T rs151140320 0.00355
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 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_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_004409.5(DMPK):c.882+8C>T rs141629958 0.00339
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_003661.4(APOL1):c.809G>A (p.Gly270Asp) rs73403889 0.00337
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
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_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00332
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
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_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_000065.5(C6):c.2067C>T (p.Asp689=) rs28651920 0.00325
NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp) rs150140303 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) rs140142474 0.00321
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001845.6(COL4A1):c.4755+18C>T rs191620431 0.00315
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00315
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 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_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 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_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
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_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 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_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_170606.3(KMT2C):c.1173C>A (p.Cys391Ter) rs146238849 0.00289
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
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_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001205019.2(GK):c.748-5A>T rs186543786 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00281
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_000258.3(MYL3):c.129+54_129+55del rs544241793 0.00277
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) rs137900287 0.00268
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_022726.4(ELOVL4):c.101-4A>G rs140639896 0.00267
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_006005.3(WFS1):c.1158C>T (p.Pro386=) rs71524354 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 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_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000875.5(IGF1R):c.2782+17G>A rs186895929 0.00244
NM_031443.4(CCM2):c.1054+12C>T rs190686229 0.00243
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 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_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser) rs12837393 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_031443.4(CCM2):c.804-5C>T rs145003686 0.00232
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_002016.2(FLG):c.6803A>G (p.His2268Arg) rs150122015 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys) rs147206089 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
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_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 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_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000875.5(IGF1R):c.1949G>A (p.Arg650Gln) rs61731172 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) rs138469414 0.00197
NM_002016.2(FLG):c.8660A>C (p.Gln2887Pro) rs143280202 0.00196
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_000718.4(CACNA1B):c.4308+10C>T rs144980930 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001666.5(ARHGAP4):c.932C>T (p.Ala311Val) rs145727816 0.00181
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile) rs115276158 0.00178
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_000797.4(DRD4):c.860A>C (p.Gln287Pro) rs769762387 0.00174
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00172
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_015978.3(TNNI3K):c.512T>C (p.Leu171Ser) rs6685961 0.00171
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_000249.4(MLH1):c.885-24T>A rs201594027 0.00164
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
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_001369.3(DNAH5):c.5882+6G>A rs377640010 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001846.4(COL4A2):c.3346+7A>G rs201020737 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser) rs150861758 0.00151
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg) rs143908070 0.00147
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_002471.4(MYH6):c.3979-15C>A rs529249069 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_144573.4(NEXN):c.864+12T>A rs188416492 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe) rs150785981 0.00127
NM_024513.4(FYCO1):c.2006G>A (p.Ser669Asn) rs141155944 0.00126
NM_138420.4(AHNAK2):c.5855C>T (p.Pro1952Leu) rs79599750 0.00126
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_001042492.3(NF1):c.4577+11C>G rs190614908 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_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
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_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_145046.5(CALR3):c.398-6T>C rs376479901 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_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_020717.5(SHROOM4):c.1972A>G (p.Met658Val) rs188714648 0.00110
NM_000257.4(MYH7):c.345+24G>A rs146744056 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_016379.4(VCX3A):c.505C>G (p.Gln169Glu) rs137964452 0.00109
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 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_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_001267550.2(TTN):c.35876-9T>C rs572783607 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_005491.5(MAMLD1):c.605C>T (p.Thr202Met) rs146555522 0.00097
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000631.5(NCF4):c.478G>A (p.Val160Met) rs150103256 0.00093
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_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_022114.4(PRDM16):c.573+17A>G rs370287328 0.00091
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) rs3829986 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
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_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) rs200338297 0.00079
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) rs143697110 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_014339.7(IL17RA):c.833G>A (p.Arg278His) rs141467790 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_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_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_021620.4(PRDM13):c.864C>T (p.Tyr288=) rs372336420 0.00066
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001625.4(AK2):c.614G>A (p.Gly205Glu) rs202182972 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_002016.2(FLG):c.8166G>A (p.Glu2722=) rs368624506 0.00057
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 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_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) rs117366477 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_000326.5(RLBP1):c.306A>C (p.Ala102=) rs143817941 0.00049
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) rs75454260 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00043
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730 0.00043
NM_000335.5(SCN5A):c.4810+23C>T rs369559182 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00041
NM_001018005.2(TPM1):c.639+21G>C rs199989220 0.00041
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_152869.4(RGN):c.453C>G (p.Asp151Glu) rs138747840 0.00040
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_006521.6(TFE3):c.26G>C (p.Arg9Pro) rs782109836 0.00039
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00034
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_007294.4(BRCA1):c.5193+22C>T rs8176260 0.00031
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000548.5(TSC2):c.5068+9G>A rs45445593 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_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_001110556.2(FLNA):c.1229-8C>T rs376190976 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=) rs61743676 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) rs151094357 0.00019
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys) rs200340910 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_004044.7(ATIC):c.955G>A (p.Val319Ile) rs147114143 0.00018
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000256.3(MYBPC3):c.506-17C>T rs561595897 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_001190417.2(ZNF674):c.1069C>A (p.His357Asn) rs180754888 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001807.6(CEL):c.2026G>T (p.Ala676Ser) rs529652004 0.00014
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) rs111796234 0.00014
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) rs572536541 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 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_018136.5(ASPM):c.9085-3T>C rs201188381 0.00011
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 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_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000548.5(TSC2):c.4662+18G>A rs45517357 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_001267550.2(TTN):c.20837-12G>A rs534822724 0.00006
NM_001267550.2(TTN):c.31270+12G>T rs564264476 0.00006
NM_001267550.2(TTN):c.57112-14T>C rs777473081 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln) rs201796692 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_020812.4(DOCK6):c.4253A>G (p.Lys1418Arg) rs530689577 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193 0.00005
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=) rs200082602 0.00005
NM_001267550.2(TTN):c.3380+9A>G rs770149480 0.00005
NM_001267550.2(TTN):c.45994C>T (p.Leu15332=) rs765663809 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_007294.4(BRCA1):c.1893A>C (p.Leu631=) rs80356834 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.6938-26T>C rs774079948 0.00003
NM_000059.4(BRCA2):c.9256+28T>A rs779846458 0.00003
NM_000062.3(SERPING1):c.279dup (p.Pro94fs) rs1945330983 0.00003
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001267550.2(TTN):c.18029-14T>C rs746546928 0.00003
NM_001846.4(COL4A2):c.550-13T>C rs572328853 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) rs201752182 0.00003
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000363.5(TNNI3):c.543C>T (p.Thr181=) rs926550445 0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_007078.3(LDB3):c.246-8T>A rs750671538 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 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_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.67+4T>C rs373546450 0.00001
NM_000059.4(BRCA2):c.7977-14G>A rs879255467 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000142.5(FGFR3):c.1646-17G>A rs1269493186 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000276.4(OCRL):c.349+14C>T rs1202964628 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.39128-16A>G rs769738352 0.00001
NM_001267550.2(TTN):c.55432+19G>A rs1213547538 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=) rs764683976 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_007294.4(BRCA1):c.135-27T>A rs373363231 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_000038.6(APC):c.423-4dup rs730881230
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup) rs3032358
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3dup rs34325032
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.681+30T>C rs2137458697
NM_000059.4(BRCA2):c.7007+31A>T rs555236509
NM_000059.4(BRCA2):c.9648+106del rs11571824
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000141.5(FGFR2):c.1084+8C>T rs1589827584
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
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_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.2737+16C>G rs933155526
NM_000256.3(MYBPC3):c.505+39dup rs747036965
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000346.4(SOX9):c.710dup (p.Pro238fs) rs1567911132
NM_000346.4(SOX9):c.715A>C (p.Thr239Pro) rs1275128261
NM_000346.4(SOX9):c.718A>C (p.Thr240Pro) rs1224146749
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000381.4(MID1):c.661-7del rs375668839
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.353+51C>A rs2233260
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000531.6(OTC):c.299-8del rs764551624
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG rs758718643
NM_000791.4(DHFR):c.-437GGGGCGCTG[1] rs60484572
NM_000797.4(DRD4):c.235_247del (p.Ala79fs) rs587776842
NM_001012759.3(CTU2):c.1097+14_1097+23del rs1555551063
NM_001015880.2(PAPSS2):c.381+21_381+24del rs367885911
NM_001015880.2(PAPSS2):c.381+22_381+24dup rs367885911
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu) rs2151601322
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001079872.2(CUL4B):c.131GCAGCAGTA[1] (p.Ser47_Ser49del) rs777238263
NM_001085377.2(MCC):c.71_72insGGCAGCAGC (p.Ser24delinsArgAlaAlaAla) rs2150439379
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001118887.2(ANGPT2):c.408G>C (p.Ala136=) rs6559167
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001128633.2(RIMBP3C):c.3196_3201dup (p.Gln1066_Val1067dup) rs1325004984
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) rs2134793110
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup) rs55671452
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001256860.1(USP17L19):c.67T>C (p.Ser23Pro) rs763198779
NM_001267536.3(GOLGA6L4):c.1236T>C (p.Asp412=) rs62028127
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[12] rs71393436
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.58433-20A>G rs893587198
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.719+13A>C rs563883763
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278064.2(GRM1):c.950+8TC[18] rs72225459
NM_001286577.2(C2CD3):c.5496-6del rs747090151
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001330111.2(NAA38):c.-167+119CGG[8] rs759738955
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001348716.2(KDM6B):c.1538G>C (p.Arg513Pro) rs749173767
NM_001348716.2(KDM6B):c.753ACC[12] (p.Pro264del) rs61462443
NM_001348716.2(KDM6B):c.753ACC[14] (p.Pro264dup) rs61462443
NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup) rs61462443
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001368894.2(PAX6):c.1306C>A (p.Gln436Lys) rs751795008
NM_001368894.2(PAX6):c.1308G>A (p.Gln436=) rs758783285
NM_001368894.2(PAX6):c.1309T>A (p.Ter437Lys) rs750848278
NM_001368894.2(PAX6):c.400-15_400-5del rs758179195
NM_001369.3(DNAH5):c.12033+7A>G rs77541151
NM_001369.3(DNAH5):c.2578-7del rs71600031
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del) rs769480864
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.3087+9_3087+10del rs373823632
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.381+22dup rs5794771
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053
NM_002016.2(FLG):c.1494G>C (p.Glu498Asp) rs13376095
NM_002016.2(FLG):c.2884T>C (p.Trp962Arg) rs199888588
NM_002016.2(FLG):c.5828T>A (p.Leu1943His) rs113544881
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002296.4(LBR):c.893-5del rs78306811
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002470.4(MYH3):c.1960-8del rs3216884
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.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-8C>G rs555976716
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup) rs751880548
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002900.3(RBP3):c.816C>A (p.Gly272=) rs148432607
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-8dup rs11483542
NM_004056.6(CA8):c.*36-24dup rs57677078
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004318.4(ASPH):c.758-13dup rs376027589
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.5211-8_5211-7del rs34125550
NM_005045.4(RELN):c.5211-9_5211-7del rs34125550
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) rs113195254
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005465.7(AKT3):c.819+2T>A rs1481058473
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005522.5(HOXA1):c.215_223del (p.His72_His74del) rs544314279
NM_005548.3(KARS1):c.223-23dup rs370077957
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005713.3(CERT1):c.*10-8del rs749454395
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006059.4(LAMC3):c.2308C>G (p.Arg770Gly) rs3739510
NM_006059.4(LAMC3):c.3070-18dup rs34910694
NM_006059.4(LAMC3):c.855A>G (p.Ala285=) rs2275132
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006086.4(TUBB3):c.167-21C>G rs72813449
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006208.3(ENPP1):c.313+9GT[21] rs59956343
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006284.4(TAF10):c.*2120_*2123=
NM_006284.4(TAF10):c.*784T>G rs769283883
NM_007078.3(LDB3):c.690-17CT[3] rs544039308
NM_007118.4(TRIO):c.3948+26_3948+27dup rs57751910
NM_007187.5(WBP4):c.262+23del rs58699334
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.4(BRCA1):c.302-41T>C rs8176135
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_012200.4(B3GAT3):c.909+270_909+271del rs549953964
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_013390.3(CEMIP2):c.3956-20_3956-18dup rs36080695
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016379.4(VCX3A):c.478G>A (p.Val160Met) rs35874450
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5]) rs754008809
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_018075.5(ANO10):c.1219-23dup rs367784953
NM_018082.6(POLR3B):c.1105_1106dup (p.Leu369fs) rs2136999020
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.142+19T>A rs547603072
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.677-16_677-11dup rs138423019
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del) rs371633333
NM_024783.4(AGBL2):c.287-23_287-22dup rs71228117
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_032122.5(DTNBP1):c.489-8dup rs199770715
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del) rs60727839
NM_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_033305.3(VPS13A):c.9189+2545TGA[10] rs113052866
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_152363.6(ANKLE1):c.*96GT[20] rs58535756
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152989.5(SOX5):c.-99+1del rs567491048
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_172362.3(KCNH1):c.80-7_80-6del rs56223346
NM_175875.5(SIX5):c.150CGGGGC[3] (p.51GA[4]) rs563227896
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
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.9495A>G (p.Glu3165=) rs6913579
NM_198060.4(NRAP):c.994-13dup rs35741231
NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2]) rs111659103
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2895+7C>T rs549295826
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NR_178195.1(LFNG):n.265_268GATG[6] rs34637446

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