ClinVar Miner

List of variants reported as benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3886
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_001101362.3(KBTBD13):c.1200T>C (p.Gly400=) rs2919360 0.99001
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_018013.4(SOBP):c.2047A>G (p.Ser683Gly) rs9486659 0.97780
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr) rs1529874 0.96312
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908 0.91221
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
NM_032110.3(DMRTA2):c.1188C>T (p.Ala396=) rs2746610 0.88506
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223 0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546 0.88316
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr) rs4027405 0.87610
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289 0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228 0.87375
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_198576.4(AGRN):c.1178-6T>C rs2799066 0.86601
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_004426.3(PHC1):c.918A>G (p.Arg306=) rs1805777 0.85023
NM_005263.5(GFI1):c.465C>T (p.Cys155=) rs11164605 0.84576
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) rs12911738 0.83758
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=) rs10151127 0.80823
NM_018451.5(CPAP):c.3216+7A>G rs9318917 0.80822
NM_198576.4(AGRN):c.3558T>C (p.Phe1186=) rs10267 0.80748
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser) rs2412541 0.79293
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr) rs7177192 0.79283
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=) rs2465128 0.79176
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_024306.5(FA2H):c.879C>T (p.Pro293=) rs2301865 0.77852
NM_198576.4(AGRN):c.5651+5C>T rs9803031 0.77551
NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn) rs4027404 0.75629
NM_006059.4(LAMC3):c.3244A>G (p.Ser1082Gly) rs2275140 0.75621
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His) rs8010911 0.72882
NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val) rs4027402 0.72784
NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr) rs4902264 0.72634
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val) rs3829767 0.71158
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_006031.6(PCNT):c.2610-5C>T rs2839226 0.68609
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376 0.67500
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000173.7(GP1BA):c.1311A>G (p.Pro437=) rs2586529 0.65526
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=) rs1056019 0.62528
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_001378778.1(MPDZ):c.4807+14A>G rs2297003 0.61011
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=) rs4577050 0.60784
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=) rs3744552 0.59381
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg) rs2071950 0.59279
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=) rs4275402 0.58285
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658 0.56664
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_004268.5(MED17):c.195C>G (p.Gly65=) rs7116967 0.55835
NM_004268.5(MED17):c.207G>C (p.Glu69Asp) rs2848477 0.55147
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_004409.5(DMPK):c.581+6T>C rs1799894 0.53545
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=) rs9442391 0.49370
NM_002691.4(POLD1):c.2718-12A>G rs3219433 0.49249
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His) rs1800974 0.48530
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_018451.5(CPAP):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=) rs2256191 0.47326
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_000207.2(INS):c.-449_-443del rs1564913059 0.46541
NM_001848.3(COL6A1):c.-5C>G rs7671 0.46506
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001101362.3(KBTBD13):c.378G>T (p.Ala126=) rs2946642 0.45129
NM_006009.4(TUBA1A):c.453G>C (p.Ser151=) rs697624 0.45037
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_001378778.1(MPDZ):c.3609A>G (p.Lys1203=) rs10756457 0.41998
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln) rs75791347 0.41599
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_182914.3(SYNE2):c.15543C>T (p.Ile5181=) rs11629287 0.40212
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=) rs11070285 0.39065
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr) rs11858113 0.39038
NM_144508.5(KNL1):c.2583T>G (p.Thr861=) rs8041534 0.38951
NM_144508.5(KNL1):c.2310C>T (p.Val770=) rs11855334 0.38914
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009 0.35615
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221 0.35601
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001375405.1(CEP120):c.1431-9A>T rs3893854 0.34483
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929 0.33689
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838 0.33531
NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=) rs7161192 0.33500
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=) rs2747662 0.33426
NM_024306.5(FA2H):c.229C>T (p.Leu77=) rs929881 0.33281
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001378778.1(MPDZ):c.2754G>A (p.Ser918=) rs2274856 0.32942
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406 0.32532
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_006031.6(PCNT):c.721-7G>A rs2839217 0.32249
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_001353108.3(CEP63):c.1067+7A>G rs11927068 0.32111
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438 0.32038
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291 0.31129
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_198576.4(AGRN):c.45G>T (p.Pro15=) rs115173026 0.30814
NM_144508.5(KNL1):c.3775A>G (p.Lys1259Glu) rs17747633 0.30695
NM_182914.3(SYNE2):c.4578-4T>A rs7146588 0.30679
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=) rs13438302 0.29174
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_006579.3(EBP):c.15G>T (p.Ala5=) rs3048 0.28803
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_001458.5(FLNC):c.3297A>G (p.Val1099=) rs3734973 0.28603
NM_001353108.3(CEP63):c.1952C>T (p.Ser651Leu) rs1127826 0.28596
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=) rs2960452 0.27858
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly) rs17856697 0.24673
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=) rs35648226 0.24610
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425 0.24579
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NC_000005.10:g.1295234A>G rs2853669 0.24174
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) rs11093377 0.23437
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413 0.22440
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=) rs12891713 0.21964
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641 0.21406
NM_201525.4(ADGRG1):c.1665-5C>T rs2290177 0.20927
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His) rs1801255 0.20047
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_000540.3(RYR1):c.4161-6T>C rs55845760 0.19230
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764 0.18919
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_006031.6(PCNT):c.7913+9G>C rs1023160 0.18804
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714 0.18798
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998 0.18680
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175 0.18653
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246 0.18636
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245 0.18635
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256 0.18603
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208 0.18595
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380 0.17969
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_000747.3(CHRNB1):c.610+6T>C rs2302765 0.16463
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591 0.16327
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16202
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798 0.16144
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=) rs2290940 0.16143
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=) rs2297738 0.16113
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_024306.5(FA2H):c.888A>G (p.Val296=) rs11554621 0.15840
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) rs3816885 0.15729
NM_001353108.3(CEP63):c.63T>C (p.Cys21=) rs9827878 0.15593
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) rs12011040 0.14855
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=) rs13297480 0.14798
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_004369.4(COL6A3):c.*7G>C rs4663722 0.14594
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_006031.6(PCNT):c.9394-4T>C rs2839260 0.14350
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=) rs935105 0.13920
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_130468.4(CHST14):c.*6G>A rs582736 0.13794
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405 0.13713
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822 0.13635
NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val) rs1970911 0.13546
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13137
NM_021023.6(CFHR3):c.786A>T (p.Pro262=) rs149352569 0.13118
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_032110.3(DMRTA2):c.1182C>T (p.Ala394=) rs368034286 0.13028
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060 0.12572
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_001458.5(FLNC):c.1032C>T (p.Val344=) rs2291562 0.12206
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_001458.5(FLNC):c.1458C>A (p.Pro486=) rs2291563 0.11830
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_182914.3(SYNE2):c.399G>C (p.Leu133=) rs33976862 0.11557
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001458.5(FLNC):c.720T>C (p.Ile240=) rs2291560 0.11080
NM_001458.5(FLNC):c.795T>C (p.Gly265=) rs2291561 0.10971
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_182914.3(SYNE2):c.11613A>G (p.Val3871=) rs17101637 0.10790
NM_004409.5(DMPK):c.1267C>G (p.Leu423Val) rs527221 0.10749
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_000053.4(ATP7B):c.2866-13G>C rs7325983 0.10642
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182914.3(SYNE2):c.14844-5G>C rs17825431 0.10335
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_018451.5(CPAP):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312 0.09947
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_024306.5(FA2H):c.1039+8T>C rs6564160 0.09790
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_020831.6(MRTFA):c.1999G>A (p.Ala667Thr) rs202141481 0.09634
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001458.5(FLNC):c.147C>T (p.His49=) rs3734972 0.09267
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060 0.09129
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) rs825045 0.08992
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) rs75770585 0.08775
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_024306.5(FA2H):c.933T>C (p.Tyr311=) rs11554620 0.08207
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_182914.3(SYNE2):c.6865T>C (p.Leu2289=) rs11850509 0.08174
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.07998
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_024596.5(MCPH1):c.513= (p.Arg171=) rs2442513 0.07742
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_014254.3(RXYLT1):c.67G>A (p.Ala23Thr) rs61935924 0.07537
NM_001197104.2(KMT2A):c.7254C>T (p.Asn2418=) rs2071702 0.07440
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_182914.3(SYNE2):c.9389A>G (p.Asn3130Ser) rs11847087 0.07400
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_172107.4(KCNQ2):c.912C>T (p.Phe304=) rs2297385 0.07323
NM_030653.4(DDX11):c.1521+6T>C rs71455621 0.07198
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=) rs6614552 0.06860
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_025265.4(TSEN2):c.162G>A (p.Ala54=) rs78685815 0.06643
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343 0.06625
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=) rs35566549 0.06569
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=) rs11168830 0.06301
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543 0.06211
NM_000334.4(SCN4A):c.864C>T (p.Asn288=) rs7218917 0.06188
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693 0.05976
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) rs2413502 0.05955
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021 0.05950
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) rs11570679 0.05937
NM_000047.3(ARSL):c.786G>A (p.Thr262=) rs17325750 0.05921
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_000047.3(ARSL):c.1728G>A (p.Pro576=) rs11055 0.05776
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=) rs17127245 0.05435
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_018486.3(HDAC8):c.438-15C>T rs72630048 0.05226
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) rs34693726 0.05120
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869 0.05117
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) rs12936716 0.05000
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997 0.04974
NM_182914.3(SYNE2):c.4177C>T (p.Arg1393Trp) rs17751301 0.04972
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818 0.04944
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815 0.04931
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_018451.5(CPAP):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=) rs16972636 0.04660
NM_198576.4(AGRN):c.804C>T (p.Ala268=) rs113789806 0.04656
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932 0.04528
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=) rs61942218 0.04331
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817 0.04297
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_003482.4(KMT2D):c.14251+18T>C rs74830946 0.04121
NM_198576.4(AGRN):c.5070C>T (p.Phe1690=) rs17160776 0.04120
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=) rs75340924 0.04096
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_002666.5(PLIN1):c.1248C>T (p.Phe416=) rs8179074 0.04064
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_001197104.2(KMT2A):c.5679A>G (p.Leu1893=) rs7107305 0.04025
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_001197104.2(KMT2A):c.4284A>C (p.Ile1428=) rs9332801 0.04002
NM_006086.4(TUBB3):c.277+8C>T rs77191445 0.03997
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974 0.03661
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_004268.5(MED17):c.1260A>G (p.Ser420=) rs36120755 0.03633
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737 0.03555
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001378778.1(MPDZ):c.4341A>G (p.Val1447=) rs61753784 0.03540
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290 0.03522
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824 0.03505
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001080414.4(CCDC88C):c.1020C>T (p.His340=) rs17127255 0.03466
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_005045.4(RELN):c.7530C>T (p.Pro2510=) rs2075038 0.03404
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_144508.5(KNL1):c.250+556G>A rs8030491 0.03326
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
NM_020999.4(NEUROG3):c.499G>A (p.Gly167Arg) rs41277236 0.03257
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) rs2229930 0.03222
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152 0.03194
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_182914.3(SYNE2):c.13423-7C>G rs7140414 0.03110
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805 0.03082
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_198576.4(AGRN):c.2183A>T (p.Glu728Val) rs113288277 0.02946
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_006009.4(TUBA1A):c.510T>C (p.Ser170=) rs112023543 0.02931
NM_006009.4(TUBA1A):c.522G>A (p.Ala174=) rs61730859 0.02903
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_012280.4(FTSJ1):c.572-8C>T rs73483894 0.02866
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=) rs35352076 0.02832
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_017668.3(NDE1):c.837C>T (p.Tyr279=) rs17283846 0.02753
NM_001205254.2(OCLN):c.699G>A (p.Leu233=) rs35107257 0.02686
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842 0.02525
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
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_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=) rs11879943 0.02345
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_182914.3(SYNE2):c.12840+8T>C rs145218296 0.02317
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_025265.4(TSEN2):c.639T>C (p.Asp213=) rs3796329 0.02309
NM_015107.3(PHF8):c.441T>G (p.Val147=) rs148215758 0.02301
NM_025265.4(TSEN2):c.327G>A (p.Glu109=) rs77899976 0.02296
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214 0.02229
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_020549.5(CHAT):c.1674C>T (p.Ser558=) rs7073028 0.02218
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_018249.6(CDK5RAP2):c.3025+48G>T rs74691300 0.02208
NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=) rs112741231 0.02197
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 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_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_018451.5(CPAP):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001353108.3(CEP63):c.555G>C (p.Gln185His) rs114108011 0.02124
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821 0.02105
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_001365088.1(SLC12A6):c.2934+12G>C rs11854257 0.02091
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001109809.5(ZFP57):c.593A>G (p.Asn198Ser) rs9461544 0.02078
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_020549.5(CHAT):c.1131G>A (p.Ser377=) rs115126024 0.02036
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_020549.5(CHAT):c.1122C>T (p.Asn374=) rs61115650 0.02026
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_182914.3(SYNE2):c.1296C>A (p.Ser432Arg) rs35554503 0.02006
NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=) rs7160325 0.02005
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_007137.5(ZNF81):c.181+8C>T rs11091216 0.02004
NM_030928.4(CDT1):c.1610C>T (p.Ala537Val) rs3218721 0.02004
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg) rs61747277 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001080414.4(CCDC88C):c.1909C>G (p.Leu637Val) rs7160308 0.01989
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_001321142.2(CIDEC):c.146C>T (p.Thr49Met) rs61742367 0.01966
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_001197104.2(KMT2A):c.8961T>A (p.Thr2987=) rs9332842 0.01910
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser) rs41307640 0.01900
NM_201525.4(ADGRG1):c.1555+15G>C rs75843478 0.01900
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_001379110.1(SLC9A6):c.744-6C>T rs17001258 0.01856
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=) rs73336474 0.01848
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_021956.5(GRIK2):c.2601G>A (p.Met867Ile) rs2235076 0.01771
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_003355.3(UCP2):c.582G>A (p.Leu194=) rs45600039 0.01735
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001365088.1(SLC12A6):c.963C>T (p.Tyr321=) rs35583475 0.01718
NM_001080414.4(CCDC88C):c.3636-14C>T rs112211533 0.01710
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_018451.5(CPAP):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_201525.4(ADGRG1):c.1338C>T (p.Ala446=) rs7198790 0.01696
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_001378778.1(MPDZ):c.3893C>T (p.Pro1298Leu) rs76115127 0.01687
NM_030928.4(CDT1):c.*6G>C rs3218723 0.01684
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
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_025265.4(TSEN2):c.963G>A (p.Glu321=) rs17036879 0.01671
NM_001378778.1(MPDZ):c.4810A>G (p.Thr1604Ala) rs16930134 0.01664
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056 0.01645
NM_173560.4(RFX6):c.1328-10T>C rs182606018 0.01645
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_018451.5(CPAP):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_001321142.2(CIDEC):c.181T>C (p.Tyr61His) rs79419480 0.01577
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812 0.01575
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_012301.4(MAGI2):c.1755C>T (p.Pro585=) rs34937835 0.01550
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_001378778.1(MPDZ):c.2104G>A (p.Glu702Lys) rs4741289 0.01547
NM_001378778.1(MPDZ):c.2105A>T (p.Glu702Val) rs4740548 0.01546
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_001080414.4(CCDC88C):c.2432C>A (p.Ala811Glu) rs17127223 0.01535
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152 0.01510
NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala) rs45542736 0.01509
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847 0.01498
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) rs61742949 0.01493
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_032322.4(RNF135):c.344G>A (p.Arg115Lys) rs111902263 0.01483
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614 0.01444
NM_004056.6(CA8):c.66A>G (p.Glu22=) rs115885226 0.01439
NM_015355.4(SUZ12):c.274+8T>C rs201453847 0.01436
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_001080414.4(CCDC88C):c.809+11G>A rs115661164 0.01394
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) rs45526034 0.01354
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) rs77051363 0.01331
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_005249.5(FOXG1):c.*13C>A rs151157846 0.01290
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_020207.7(ERCC6L2):c.2811A>G (p.Val937=) rs41281212 0.01274
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_178012.5(TUBB2B):c.718C>T (p.Leu240=) rs199547345 0.01260
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_007137.5(ZNF81):c.8C>T (p.Ala3Val) rs183846665 0.01206
NM_018451.5(CPAP):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.01205
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=) rs77794669 0.01137
NM_025009.5(CEP135):c.1675G>A (p.Ala559Thr) rs115701891 0.01137
NM_007137.5(ZNF81):c.18C>T (p.Asp6=) rs145478020 0.01132
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) rs41277437 0.01093
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_005431.2(XRCC2):c.40-10C>T rs3218472 0.01055
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_004714.3(DYRK1B):c.521-9C>T rs76318664 0.01045
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_001130969.3(NSMF):c.1237-9T>C rs112888704 0.01034
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468 0.01034
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_021956.5(GRIK2):c.939T>C (p.Asp313=) rs34360565 0.01029
NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=) rs8017119 0.01028
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_016343.4(CENPF):c.3623C>T (p.Ala1208Val) rs114717799 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_007294.4(BRCA1):c.*1332G>A rs8176320 0.01007
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_024735.5(FBXO31):c.1065C>T (p.Pro355=) rs61115074 0.01004
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_138422.4(ADAT3):c.522C>T (p.Ser174=) rs373784387 0.00993
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_002520.7(NPM1):c.543T>C (p.Phe181=) rs61755048 0.00991
NM_012301.4(MAGI2):c.531T>C (p.Thr177=) rs34088845 0.00991
NM_001201550.3(CFHR4):c.243G>A (p.Thr81=) rs77556138 0.00990
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro) rs587780306 0.00981
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu) rs186251256 0.00975
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_198334.3(GANAB):c.2548C>T (p.His850Tyr) rs114915323 0.00973
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053 0.00970
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_014832.5(TBC1D4):c.3617A>G (p.Asn1206Ser) rs76851570 0.00958
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_198253.2(TERT):c.-218C>G rs34233268 0.00953
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495 0.00947
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val) rs76066357 0.00936
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_032656.4(DHX37):c.887+9T>C rs74614695 0.00935
NM_003482.4(KMT2D):c.5868-8C>T rs75783546 0.00934
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=) rs114363730 0.00928
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595 0.00921
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_007118.4(TRIO):c.171C>T (p.Asn57=) rs55664610 0.00913
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) rs115986561 0.00912
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_005228.5(EGFR):c.1632T>C (p.Gly544=) rs17290103 0.00901
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_001626.6(AKT2):c.*9C>T rs79275829 0.00890
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_005228.5(EGFR):c.1317A>G (p.Ala439=) rs17290005 0.00886
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00886
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_020066.5(FMN2):c.426C>T (p.Thr142=) rs143096048 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala) rs147125035 0.00868
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_003502.4(AXIN1):c.2409C>T (p.Arg803=) rs61753369 0.00864
NM_004752.4(GCM2):c.679A>G (p.Ile227Val) rs35395043 0.00864
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000204.5(CFI):c.*7G>T rs80173133 0.00861
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_005357.4(LIPE):c.436C>T (p.Pro146Ser) rs34348028 0.00857
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_194292.3(SASS6):c.735A>G (p.Gln245=) rs150364529 0.00856
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_033028.5(BBS4):c.180A>G (p.Gln60=) rs114434361 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_003356.4(UCP3):c.127-7C>T rs77012485 0.00848
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) rs113794264 0.00845
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354 0.00844
NM_001083116.3(PRF1):c.702G>A (p.Ser234=) rs138508223 0.00843
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687 0.00842
NM_005228.5(EGFR):c.1788G>A (p.Pro596=) rs17290162 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_004972.4(JAK2):c.1323C>T (p.Val441=) rs78729673 0.00839
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_002894.3(RBBP8):c.1766G>A (p.Arg589His) rs111445733 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_001807.6(CEL):c.2064C>G (p.Gly688=) rs373329036 0.00828
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_001348800.3(ZBTB20):c.*6A>G rs114699546 0.00823
NM_152703.5(SAMD9L):c.286T>C (p.Ser96Pro) rs60838691 0.00823
NM_001130004.2(ACTN1):c.672C>T (p.Ala224=) rs73284984 0.00820
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile) rs34678304 0.00820
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_032638.5(GATA2):c.-276T>G rs563914744 0.00818
NM_139318.5(KCNH5):c.1369+7A>G rs79489451 0.00818
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=) rs73710962 0.00818
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_001365088.1(SLC12A6):c.1284C>T (p.Asn428=) rs34098566 0.00816
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_004056.6(CA8):c.299C>T (p.Ser100Leu) rs149391728 0.00815
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_020921.4(NIN):c.264A>T (p.Pro88=) rs61755037 0.00815
NM_001378778.1(MPDZ):c.275C>T (p.Ser92Leu) rs17273542 0.00814
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=) rs114731584 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00812
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_138927.4(SON):c.4122T>C (p.Thr1374=) rs148012048 0.00810
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653 0.00806
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001830.4(CLCN4):c.288G>A (p.Thr96=) rs2106801 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser) rs61754192 0.00800
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00799
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_014875.3(KIF14):c.1734G>A (p.Met578Ile) rs144936292 0.00791
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_032415.7(CARD11):c.1923G>A (p.Arg641=) rs41405944 0.00786
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_021044.4(DHH):c.543C>T (p.His181=) rs117527954 0.00783
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_001379500.1(COL18A1):c.107-12152C>T rs142892701 0.00779
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_004972.4(JAK2):c.1284T>C (p.Ser428=) rs2230727 0.00776
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_002113.3(CFHR1):c.790+1G>A rs140799744 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_015421.4(TMEM186):c.1A>G (p.Met1Val) rs147436106 0.00773
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) rs139633564 0.00773
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_017721.5(CC2D1A):c.1634T>C (p.Ile545Thr) rs75601897 0.00770
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816 0.00767
NM_173630.4(RTTN):c.1929+3G>A rs75464253 0.00767
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_152515.5(CKAP2L):c.2185C>T (p.Arg729Cys) rs76036957 0.00764
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547 0.00762
NM_018943.3(TUBA8):c.383C>T (p.Ala128Val) rs2234331 0.00762
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) rs61323219 0.00757
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_001378778.1(MPDZ):c.2602G>A (p.Gly868Ser) rs34776397 0.00754
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_001368882.1(COL13A1):c.685-1162T>C rs147026259 0.00753
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_173630.4(RTTN):c.32-3C>T rs75577820 0.00750
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_015114.3(ANKLE2):c.1986C>T (p.Ser662=) rs114132434 0.00748
NM_024596.5(MCPH1):c.2453-13G>A rs111713406 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=) rs34780140 0.00746
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_001201550.3(CFHR4):c.159C>T (p.Ser53=) rs78951215 0.00745
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_014444.5(TUBGCP4):c.1086T>C (p.Leu362=) rs61753624 0.00745
NM_017534.6(MYH2):c.183G>A (p.Thr61=) rs142539913 0.00745
NM_152703.5(SAMD9L):c.1913G>A (p.Arg638His) rs73710963 0.00745
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu) rs35975325 0.00742
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394 0.00742
NM_001201550.3(CFHR4):c.62T>C (p.Val21Ala) rs78624607 0.00741
NM_133444.3(ZNF526):c.566C>T (p.Pro189Leu) rs150807158 0.00741
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_001201550.3(CFHR4):c.348T>A (p.Asn116Lys) rs193093149 0.00739
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_000173.7(GP1BA):c.215G>A (p.Arg72His) rs6068 0.00737
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=) rs75411012 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001201550.3(CFHR4):c.277G>A (p.Val93Ile) rs150254054 0.00736
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_020461.4(TUBGCP6):c.5181G>A (p.Thr1727=) rs35231253 0.00736
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) rs41306894 0.00734
NM_001127208.3(TET2):c.2771A>G (p.His924Arg) rs34485921 0.00733
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala) rs115553539 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_001379500.1(COL18A1):c.107-12174G>A rs148957774 0.00732
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_173598.6(KSR2):c.2757T>C (p.Pro919=) rs56407105 0.00731
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 0.00729
NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=) rs149242867 0.00729
NM_005523.6(HOXA11):c.*6C>T rs17427861 0.00729
NM_030928.4(CDT1):c.185C>T (p.Ala62Val) rs561655241 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_001098511.3(KIF2A):c.936T>C (p.Tyr312=) rs115557867 0.00725
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_015330.6(SPECC1L):c.600A>T (p.Leu200Phe) rs56112030 0.00722
NM_030632.3(ASXL3):c.4239C>T (p.Val1413=) rs149577667 0.00722
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015330.6(SPECC1L):c.1329T>G (p.Val443=) rs55945050 0.00721
NM_003309.4(TSPYL1):c.1135A>G (p.Thr379Ala) rs45490498 0.00719
NM_015330.6(SPECC1L):c.2743+10A>G rs62233134 0.00719
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_030665.4(RAI1):c.3791A>G (p.Glu1264Gly) rs61746214 0.00717
NM_138927.4(SON):c.4554C>T (p.His1518=) rs7280001 0.00716
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=) rs546645333 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val) rs112725812 0.00712
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr) rs61742074 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001206999.2(CIT):c.5623+9G>A rs11610278 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_013328.4(PYCR2):c.634-3T>C rs115445786 0.00706
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_016222.4(DDX41):c.1683C>T (p.Pro561=) rs140652745 0.00703
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_001130004.2(ACTN1):c.676+6A>G rs147440695 0.00696
NM_004260.4(RECQL4):c.-6C>T rs35827852 0.00694
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_031407.7(HUWE1):c.6097+7A>C rs147480463 0.00694
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311 0.00688
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_018036.7(ATG2B):c.462T>C (p.Ala154=) rs61740267 0.00687
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_015202.5(KATNIP):c.4026G>C (p.Glu1342Asp) rs115450895 0.00685
NM_024101.7(MLPH):c.1508C>T (p.Ser503Leu) rs146485666 0.00685
NM_002113.3(CFHR1):c.133G>T (p.Val45Phe) rs138970064 0.00684
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_173689.7(CRB2):c.2709C>T (p.Arg903=) rs116379540 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001127208.3(TET2):c.2599T>C (p.Tyr867His) rs144386291 0.00675
NM_001206999.2(CIT):c.5868G>A (p.Pro1956=) rs35431237 0.00675
NM_018036.7(ATG2B):c.4899C>T (p.Leu1633=) rs35682045 0.00675
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_032110.3(DMRTA2):c.1430G>A (p.Ser477Asn) rs200890998 0.00672
NM_001127208.3(TET2):c.5167C>T (p.Pro1723Ser) rs146348065 0.00671
NM_018036.7(ATG2B):c.5139+9C>T rs150538996 0.00671
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=) rs61734143 0.00670
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_001129820.2(SLFN14):c.1583G>A (p.Arg528His) rs147826084 0.00668
NM_001012339.3(DNAJC21):c.657G>A (p.Ala219=) rs77480286 0.00666
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) rs149142910 0.00664
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_017563.5(IL17RD):c.1697C>T (p.Pro566Leu) rs61742268 0.00659
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.4(BRCA2):c.5704G>A rs4987048 0.00655
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_152743.4(BRAT1):c.993G>A (p.Thr331=) rs76646873 0.00653
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_000550.3(TYRP1):c.1082-8G>A rs79992094 0.00650
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) rs115878217 0.00648
NM_001382347.1(MYO5A):c.5409+4G>A rs72734962 0.00647
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_021956.5(GRIK2):c.672T>C (p.Phe224=) rs76072496 0.00646
NM_000179.3(MSH6):c.*85T>A rs2020906 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_020921.4(NIN):c.2988G>A (p.Ala996=) rs80291668 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001987.5(ETV6):c.642G>A (p.Pro214=) rs72550786 0.00644
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val) rs35612775 0.00642
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=) rs147863385 0.00642
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00640
NM_016306.6(DNAJB11):c.226-3C>T rs139260755 0.00639
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_201589.4(MAFA):c.451C>T (p.His151Tyr) rs149797559 0.00638
NM_018036.7(ATG2B):c.669C>T (p.Leu223=) rs79662280 0.00637
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_003159.2(CDKL5):c.-391G>T rs191864898 0.00632
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) rs28362302 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_030928.4(CDT1):c.435G>A (p.Gln145=) rs3218731 0.00631
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 0.00627
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala) rs34922269 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_174916.3(UBR1):c.4938C>T (p.Asn1646=) rs35996841 0.00625
NM_175875.5(SIX5):c.213G>T (p.Gly71=) rs570333735 0.00625
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504 0.00623
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_030928.4(CDT1):c.1367A>C (p.Glu456Ala) rs3218729 0.00618
NM_017841.4(SDHAF2):c.*12C>T rs113652589 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00613
NM_001128840.3(CACNA1D):c.1350G>A (p.Pro450=) rs35434249 0.00612
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 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_145207.3(AFG2A):c.2485G>T (p.Asp829Tyr) rs35206443 0.00609
NM_181332.3(NLGN4X):c.2271G>A (p.Pro757=) rs4999056 0.00609
NM_000204.5(CFI):c.315A>T (p.Thr105=) rs61745205 0.00608
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_015662.3(IFT172):c.2858G>A (p.Arg953His) rs704793 0.00606
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln) rs6666973 0.00603
NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val) rs61745576 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_005739.4(RASGRP1):c.1446T>C (p.Tyr482=) rs77995194 0.00597
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) rs138247613 0.00593
NM_001069.3(TUBB2A):c.504C>T (p.Ser168=) rs147339483 0.00591
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_030928.4(CDT1):c.1472G>A (p.Ser491Asn) rs146199695 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_173630.4(RTTN):c.6015C>T (p.Ala2005=) rs117183725 0.00590
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_019066.5(MAGEL2):c.678T>G (p.Gly226=) rs367737053 0.00589
NM_001312909.2(FAM111A):c.1299A>G (p.Ile433Met) rs114634830 0.00586
NM_002666.5(PLIN1):c.1043C>T (p.Ser348Leu) rs8179071 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) rs145467198 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
NM_173630.4(RTTN):c.1921A>G (p.Ile641Val) rs117502718 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_020987.5(ANK3):c.1047C>T (p.Cys349=) rs117138204 0.00580
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp) rs115464632 0.00579
NM_198291.3(SRC):c.1224T>C (p.Phe408=) rs112739878 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_004268.5(MED17):c.1500G>A (p.Glu500=) rs76149470 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_018263.6(ASXL2):c.3674G>C (p.Cys1225Ser) rs144145474 0.00578
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_173689.7(CRB2):c.3325C>G (p.His1109Asp) rs185968694 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_000419.5(ITGA2B):c.1848G>A (p.Val616=) rs79289329 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn) rs11555496 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_002067.5(GNA11):c.321+9G>A rs143987260 0.00567
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_002519.3(NPAT):c.218-9A>G rs529632 0.00565
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_001377304.1(GFI1B):c.238+7C>T rs11793702 0.00562
NM_032415.7(CARD11):c.1212G>A (p.Arg404=) rs142108678 0.00562
NM_019066.5(MAGEL2):c.2692A>G (p.Ser898Gly) rs180690391 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001206999.2(CIT):c.5955G>T (p.Pro1985=) rs139121341 0.00560
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_018036.7(ATG2B):c.1360G>A (p.Val454Met) rs117507139 0.00556
NM_173689.7(CRB2):c.205C>T (p.Arg69Trp) rs36035964 0.00556
NM_006245.4(PPP2R5D):c.1284T>C (p.Asn428=) rs114970216 0.00555
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_006766.5(KAT6A):c.5379G>A (p.Gln1793=) rs34566148 0.00553
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_198291.3(SRC):c.449+9C>T rs56182609 0.00548
NM_033026.6(PCLO):c.7605C>T (p.Gly2535=) rs139287941 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) rs140360074 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_016343.4(CENPF):c.1145G>A (p.Arg382Lys) rs114338555 0.00540
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005879.3(TRAIP):c.303G>A (p.Gln101=) rs145932323 0.00538
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929 0.00538
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_005045.4(RELN):c.1075G>A (p.Val359Ile) rs114926265 0.00535
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=) rs71584868 0.00534
NM_017654.4(SAMD9):c.1398A>C (p.Pro466=) rs138066899 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001194998.2(CEP152):c.1909-8G>C rs116089174 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_007118.4(TRIO):c.2811C>G (p.Ala937=) rs143042118 0.00529
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) rs146994329 0.00528
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=) rs34200704 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=) rs147905122 0.00526
NM_031483.7(ITCH):c.1146A>G (p.Gln382=) rs141828786 0.00526
NM_002948.5(RPL15):c.75C>G (p.Val25=) rs35629664 0.00525
NM_014915.2(ANKRD26):c.-184G>T rs527666933 0.00525
NM_001206999.2(CIT):c.4224C>T (p.Asn1408=) rs34105832 0.00524
NM_001493.3(GDI1):c.154-3C>T rs113696246 0.00524
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_015662.3(IFT172):c.4428+5C>G rs114235369 0.00521
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_016343.4(CENPF):c.7753G>A (p.Val2585Met) rs62636591 0.00518
NM_138386.3(NAF1):c.266C>T (p.Ser89Leu) rs35063973 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser) rs78781527 0.00517
NM_001715.3(BLK):c.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_006766.5(KAT6A):c.2487A>G (p.Val829=) rs10104089 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_201525.4(ADGRG1):c.504C>T (p.Ala168=) rs113005540 0.00515
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_004036.5(ADCY3):c.2495+8C>T rs116538472 0.00513
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_024598.4(USB1):c.344G>A (p.Arg115Lys) rs35025252 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys) rs138924453 0.00511
NM_012301.4(MAGI2):c.893A>G (p.Asn298Ser) rs149573681 0.00511
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_020921.4(NIN):c.4395T>C (p.Thr1465=) rs74594049 0.00510
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_004933.3(CDH15):c.718C>T (p.Leu240Phe) rs142647750 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_005546.4(ITK):c.1398G>T (p.Val466=) rs17595896 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_004036.5(ADCY3):c.1593C>T (p.Thr531=) rs112242890 0.00503
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_002519.3(NPAT):c.1506T>G (p.Pro502=) rs61913698 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_194292.3(SASS6):c.312-4A>C rs149440197 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_002519.3(NPAT):c.3580G>T (p.Gly1194Cys) rs181187590 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_138501.6(TECR):c.813C>T (p.Ser271=) rs141619383 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_198291.3(SRC):c.1134G>A (p.Ala378=) rs56408406 0.00494
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val) rs17849378 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_032638.5(GATA2):c.-54C>T rs146660278 0.00493
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272 0.00493
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_006060.6(IKZF1):c.99C>A (p.Ile33=) rs61732861 0.00491
NM_006420.3(ARFGEF2):c.423+3A>G rs2295029 0.00491
NM_018036.7(ATG2B):c.1668A>G (p.Ser556=) rs201230411 0.00491
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_001206999.2(CIT):c.3006C>T (p.Asn1002=) rs79892909 0.00484
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_021956.5(GRIK2):c.2312-8T>G rs180799513 0.00483
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221 0.00480
NM_014423.4(AFF4):c.819G>A (p.Glu273=) rs141383886 0.00480
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn) rs61738822 0.00478
NM_006030.4(CACNA2D2):c.3393G>A (p.Pro1131=) rs145772306 0.00478
NM_025074.7(FRAS1):c.10312G>A (p.Val3438Met) rs34063631 0.00478
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=) rs142642466 0.00478
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683 0.00477
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_000044.6(AR):c.1029T>C (p.Ser343=) rs113983339 0.00467
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=) rs62636641 0.00465
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_001972.4(ELANE):c.99C>T (p.Gly33=) rs17216628 0.00463
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_017654.4(SAMD9):c.4666G>A (p.Ala1556Thr) rs34896991 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_014832.5(TBC1D4):c.2254A>G (p.Thr752Ala) rs149821147 0.00459
NM_016343.4(CENPF):c.6550G>A (p.Val2184Ile) rs62623663 0.00459
NM_016343.4(CENPF):c.7544A>C (p.Gln2515Pro) rs62636593 0.00459
NM_016734.3(PAX5):c.923C>T (p.Ala308Val) rs35077960 0.00459
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg) rs34620165 0.00458
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_001754.5(RUNX1):c.183G>A (p.Pro61=) rs76558016 0.00454
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_020207.7(ERCC6L2):c.407G>A (p.Gly136Glu) rs61740729 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_138386.3(NAF1):c.1348G>A (p.Gly450Ser) rs200516616 0.00454
NM_016284.5(CNOT1):c.2971-10A>T rs11860588 0.00453
NM_001024613.4(FEZF1):c.1350G>A (p.Pro450=) rs112066691 0.00452
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_002519.3(NPAT):c.861C>T (p.Asn287=) rs34021883 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001379500.1(COL18A1):c.667C>T (p.Leu223=) rs60162212 0.00449
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001126049.2(KLLN):c.392A>G (p.Asn131Ser) rs147932146 0.00448
NM_001126049.2(KLLN):c.445T>A (p.Trp149Arg) rs144811392 0.00448
NM_030928.4(CDT1):c.404C>T (p.Ala135Val) rs3218725 0.00448
NM_032833.5(PPP1R15B):c.1886C>G (p.Ser629Cys) rs111725786 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_005491.5(MAMLD1):c.*481G>A rs182597797 0.00445
NM_004523.4(KIF11):c.2771-6T>A rs75876570 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_004840.3(ARHGEF6):c.1480-3T>C rs138342895 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00436
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_018685.5(ANLN):c.2193G>A (p.Gln731=) rs138189874 0.00435
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=) rs143410137 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_030928.4(CDT1):c.292A>G (p.Ile98Val) rs142692932 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001025248.2(DUT):c.280+9G>A rs567712706 0.00431
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000791.4(DHFR):c.-411G>A rs201149584 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_001004320.2(AGMO):c.598A>T (p.Ile200Phe) rs146442781 0.00428
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_182895.5(SCARF2):c.1653C>T (p.Asp551=) rs76472118 0.00426
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) rs141790702 0.00424
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001377304.1(GFI1B):c.576C>T (p.Phe192=) rs150813342 0.00421
NM_003673.4(TCAP):c.191C>T (p.Ser64Leu) rs45458802 0.00421
NM_018451.5(CPAP):c.3367-12T>C rs3742163 0.00421
NM_022095.4(ZNF335):c.3507C>T (p.His1169=) rs141812371 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_032833.5(PPP1R15B):c.430G>A (p.Glu144Lys) rs4492688 0.00418
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466 0.00416
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=) rs12480346 0.00414
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn) rs151014108 0.00413
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu) rs114613121 0.00412
NM_003136.4(SRP54):c.48G>A (p.Ser16=) rs17849754 0.00412
NM_005045.4(RELN):c.4986C>G (p.Thr1662=) rs78221963 0.00412
NM_018036.7(ATG2B):c.1205G>A (p.Arg402His) rs183527316 0.00412
NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr) rs192716734 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001190417.2(ZNF674):c.1280A>G (p.His427Arg) rs200552019 0.00410
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001807.6(CEL):c.432G>A (p.Leu144=) rs115568146 0.00410
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln) rs61756292 0.00410
NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser) rs77130902 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_001261826.3(AP3D1):c.2938-8A>G rs143612937 0.00409
NM_032415.7(CARD11):c.3019+6C>T rs199705831 0.00408
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_033026.6(PCLO):c.10146T>G (p.Thr3382=) rs111241048 0.00406
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061 0.00402
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) rs11797456 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_007118.4(TRIO):c.1179C>T (p.Asn393=) rs56035446 0.00399
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp) rs145145735 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_001127208.3(TET2):c.5103G>A (p.Met1701Ile) rs62623390 0.00397
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_005546.4(ITK):c.578G>A (p.Arg193Gln) rs17054374 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_002024.6(FMR1):c.105-8A>C rs183745963 0.00395
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_016343.4(CENPF):c.562T>C (p.Leu188=) rs61732049 0.00395
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_032322.4(RNF135):c.299A>G (p.His100Arg) rs368080023 0.00394
NM_015175.3(NBEAL2):c.2196G>A (p.Thr732=) rs201880318 0.00393
NM_015175.3(NBEAL2):c.4306-4A>G rs201229761 0.00393
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761 0.00392
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_014264.5(PLK4):c.1428A>T (p.Val476=) rs112831813 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=) rs142049079 0.00390
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_014444.5(TUBGCP4):c.1254C>T (p.Ile418=) rs186788196 0.00390
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_014994.3(MAPKBP1):c.2859G>A (p.Pro953=) rs141865866 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_007250.5(KLF8):c.322A>G (p.Ile108Val) rs146429909 0.00386
NM_020831.6(MRTFA):c.2691C>T (p.Leu897=) rs41276311 0.00386
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_175914.4(HNF4A):c.-276G>T rs148318607 0.00383
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_017838.4(NHP2):c.*11T>A rs200781371 0.00379
NM_025074.7(FRAS1):c.10149C>T (p.Thr3383=) rs35321934 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_017654.4(SAMD9):c.1920C>T (p.Val640=) rs115425131 0.00377
NM_024809.5(TCTN2):c.1505+3G>C rs111574617 0.00377
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_020066.5(FMN2):c.696T>C (p.Pro232=) rs11583501 0.00376
NM_001291303.3(FAT4):c.9891G>A (p.Val3297=) rs139704889 0.00375
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_001318510.2(ACSL4):c.1391-7T>C rs192665139 0.00373
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_174916.3(UBR1):c.2736A>G (p.Gln912=) rs145463591 0.00370
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr) rs2228168 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_018451.5(CPAP):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_001378418.1(TCF20):c.4241C>T (p.Ser1414Leu) rs145553394 0.00367
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_016343.4(CENPF):c.2271T>C (p.His757=) rs111676558 0.00364
NM_016343.4(CENPF):c.4470G>A (p.Leu1490=) rs112985127 0.00364
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) rs116540923 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000550.3(TYRP1):c.1117G>A (p.Val373Ile) rs146467307 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_001190417.2(ZNF674):c.1110T>G (p.His370Gln) rs142411452 0.00358
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_017934.7(PHIP):c.723A>G (p.Ala241=) rs77379998 0.00358
NM_020921.4(NIN):c.2676G>A (p.Gln892=) rs78234652 0.00358
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562 0.00357
NM_030665.4(RAI1):c.837G>A (p.Gln279=) rs11078398 0.00357
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437 0.00356
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_030773.4(TUBB1):c.84C>T (p.His28=) rs35505670 0.00356
NM_194292.3(SASS6):c.1835G>A (p.Arg612His) rs143522528 0.00356
NM_001004320.2(AGMO):c.1011A>G (p.Ile337Met) rs139340804 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_003647.3(DGKE):c.1440T>C (p.Val480=) rs2230873 0.00354
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000751.3(CHRND):c.1371+7G>T rs188395796 0.00350
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_173598.6(KSR2):c.1218T>C (p.Asp406=) rs143431986 0.00348
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
NM_002472.3(MYH8):c.1650C>T (p.Ser550=) rs61730801 0.00347
NM_002509.4(NKX2-2):c.95C>T (p.Pro32Leu) rs115780948 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) rs199636726 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_000099.4(CST3):c.88G>A (p.Gly30Ser) rs200245337 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_020987.5(ANK3):c.2322G>C (p.Gly774=) rs138823660 0.00344
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=) rs143055101 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_014264.5(PLK4):c.2895G>A (p.Pro965=) rs6820138 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674 0.00337
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_001030.6(RPS27):c.228A>T (p.Gly76=) rs138950537 0.00334
NM_001101.5(ACTB):c.-6-4G>T rs13447394 0.00334
NM_002732.4(PRKACG):c.723C>T (p.Ala241=) rs41288749 0.00334
NM_003867.4(FGF17):c.597C>T (p.Gly199=) rs147413881 0.00334
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816 0.00333
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
NM_005068.3(SIM1):c.2100C>G (p.Gly700=) rs77655804 0.00331
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001129820.2(SLFN14):c.515T>C (p.Val172Ala) rs139678049 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys) rs144732790 0.00327
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_002025.4(AFF2):c.1353C>G (p.Leu451=) rs138980868 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_003502.4(AXIN1):c.1577C>T (p.Ala526Val) rs141699962 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_025265.4(TSEN2):c.66A>C (p.Pro22=) rs62637658 0.00322
NM_004426.3(PHC1):c.1845T>G (p.Val615=) rs141573939 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_017654.4(SAMD9):c.4561G>A (p.Glu1521Lys) rs115350620 0.00320
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_004972.4(JAK2):c.*4A>C rs114173032 0.00319
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_006346.4(PIBF1):c.218T>C (p.Met73Thr) rs113877701 0.00319
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_001643.2(APOA2):c.288G>A (p.Gln96=) rs6413454 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_014264.5(PLK4):c.1020A>C (p.Gly340=) rs7664937 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_012309.5(SHANK2):c.3105C>T (p.Ile1035=) rs115697891 0.00314
NM_018943.3(TUBA8):c.748G>A (p.Val250Met) rs145621219 0.00314
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_030632.3(ASXL3):c.2457T>C (p.Ala819=) rs199974440 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_020987.5(ANK3):c.2889C>T (p.Tyr963=) rs149682716 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_014009.3(FOXP3):c.-78C>T rs141704699 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471 0.00307
NM_181741.4(ORC4):c.857C>T (p.Ala286Val) rs75002266 0.00307
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_005475.3(SH2B3):c.540G>A (p.Lys180=) rs370747546 0.00303
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625 0.00301
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_004268.5(MED17):c.978G>C (p.Val326=) rs2276311 0.00300
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_002354.3(EPCAM):c.135A>G (p.Gln45=) rs72882770 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_032977.4(CASP10):c.1296C>T (p.Ala432=) rs41331850 0.00298
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu) rs137880283 0.00297
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=) rs140096524 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004933.3(CDH15):c.387A>G (p.Gly129=) rs147301479 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg) rs144426436 0.00293
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_001377304.1(GFI1B):c.239-9T>A rs148081644 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_017757.3(ZNF407):c.427G>T (p.Val143Phe) rs200158544 0.00291
NM_173560.4(RFX6):c.985G>A (p.Val329Ile) rs139343836 0.00291
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=) rs187525163 0.00290
NM_005263.5(GFI1):c.483T>C (p.Pro161=) rs374062963 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_005879.3(TRAIP):c.99-9T>G rs181861135 0.00286
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile) rs140134890 0.00285
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=) rs146025366 0.00285
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val) rs115345208 0.00285
NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=) rs79858266 0.00285
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_001987.5(ETV6):c.1075C>A (p.Arg359=) rs141938078 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_001372044.2(SHANK3):c.2324+9T>C rs143935032 0.00282
NM_004972.4(JAK2):c.1458T>G (p.Val486=) rs10119726 0.00282
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr) rs41348347 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_018036.7(ATG2B):c.2437+6A>G rs74086418 0.00280
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404 0.00279
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg) rs76949956 0.00279
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_004991.4(MECOM):c.822T>C (p.Asp274=) rs142578153 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_138386.3(NAF1):c.83C>T (p.Ala28Val) rs182355036 0.00277
NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu) rs139685732 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His) rs116616570 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_030773.4(TUBB1):c.396C>G (p.Gly132=) rs61757565 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_020207.7(ERCC6L2):c.-8C>G rs78293324 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) rs142718564 0.00269
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_001101.5(ACTB):c.985-6C>T rs182943508 0.00269
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_001626.6(AKT2):c.573+9C>T rs3730258 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His) rs61742126 0.00262
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) rs201652303 0.00262
NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=) rs2233068 0.00262
NM_172351.3(CD46):c.38C>T (p.Ser13Phe) rs138843816 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) rs56151272 0.00260
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) rs74128547 0.00260
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005739.4(RASGRP1):c.1548C>T (p.Leu516=) rs61759869 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001379291.1(BRD4):c.801C>T (p.Pro267=) rs148130736 0.00256
NM_025103.4(IFT74):c.360A>G (p.Glu120=) rs185119188 0.00256
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_015559.3(SETBP1):c.1248T>C (p.His416=) rs144249054 0.00254
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) rs45541732 0.00252
NM_017757.3(ZNF407):c.4106G>A (p.Gly1369Asp) rs34141917 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_002519.3(NPAT):c.388A>G (p.Thr130Ala) rs187990506 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191 0.00248
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001101362.3(KBTBD13):c.954C>G (p.Thr318=) rs368781046 0.00246
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn) rs11963186 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_006947.4(SRP72):c.1425-4T>C rs57723738 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) rs34150332 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_014444.5(TUBGCP4):c.831A>G (p.Leu277=) rs149743986 0.00241
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_001126128.2(PROK2):c.*2C>T rs115261059 0.00240
NM_001356.5(DDX3X):c.234A>T (p.Ser78=) rs143627607 0.00240
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_001273.5(CHD4):c.420T>G (p.Asp140Glu) rs74790047 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_016734.3(PAX5):c.6T>A (p.Asp2Glu) rs139701864 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_002519.3(NPAT):c.3646A>G (p.Asn1216Asp) rs189775078 0.00234
NM_001017975.6(HFM1):c.2308G>A (p.Asp770Asn) rs143399622 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_003184.4(TAF2):c.1262G>A (p.Gly421Glu) rs61753748 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val) rs5996694 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_002519.3(NPAT):c.750A>G (p.Arg250=) rs184954520 0.00232
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn) rs11963184 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_014915.3(ANKRD26):c.531+10A>T rs114367485 0.00227
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=) rs137940710 0.00226
NM_001903.5(CTNNA1):c.1167C>T (p.His389=) rs61736921 0.00225
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=) rs56142442 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_003159.2(CDKL5):c.-265C>G rs587783397 0.00223
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_005475.3(SH2B3):c.729C>T (p.Pro243=) rs539284730 0.00223
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001145306.2(CDK6):c.949A>T (p.Ser317Cys) rs140409009 0.00218
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser) rs142269166 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_005357.4(LIPE):c.2224G>A (p.Gly742Arg) rs45603141 0.00215
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg) rs74039425 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_005475.3(SH2B3):c.795G>A (p.Arg265=) rs143256866 0.00210
NM_012310.5(KIF4A):c.2118+7A>G rs187401737 0.00209
NM_001201550.3(CFHR4):c.774C>G (p.Asp258Glu) rs144216823 0.00208
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_014271.4(IL1RAPL1):c.1959T>C (p.Pro653=) rs143390107 0.00208
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=) rs149908158 0.00205
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_015107.3(PHF8):c.606C>T (p.Asn202=) rs77581173 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_000381.4(MID1):c.75C>T (p.Cys25=) rs140708189 0.00202
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_015080.4(NRXN2):c.3213C>G (p.Leu1071=) rs139264192 0.00202
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_015922.3(NSDHL):c.750G>A (p.Ala250=) rs141068024 0.00201
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001415.4(EIF2S3):c.123A>G (p.Thr41=) rs56229020 0.00200
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_006009.4(TUBA1A):c.189C>T (p.Pro63=) rs147273934 0.00200
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) rs147341899 0.00192
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) rs201068693 0.00192
NM_001374828.1(ARID1B):c.2286G>A (p.Thr762=) rs6912981 0.00191
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_001009999.3(KDM1A):c.1662T>C (p.Asp554=) rs75011666 0.00190
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_006009.4(TUBA1A):c.246C>T (p.Thr82=) rs1134868 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_004991.4(MECOM):c.3012C>T (p.Asn1004=) rs116736168 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) rs186243874 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=) rs144383785 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_018263.6(ASXL2):c.3102G>T (p.Arg1034Ser) rs144699852 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=) rs147726863 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_002582.4(PARN):c.840+6T>C rs59687658 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_152703.5(SAMD9L):c.2127T>C (p.Phe709=) rs7792360 0.00173
NM_004991.4(MECOM):c.1707C>A (p.Pro569=) rs141081950 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg) rs41286058 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val) rs150974347 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_012156.2(EPB41L1):c.726C>T (p.Phe242=) rs142551778 0.00163
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_020738.4(KIDINS220):c.3459C>T (p.Gly1153=) rs199913532 0.00162
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_005357.4(LIPE):c.280G>A (p.Ala94Thr) rs145456377 0.00160
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_007118.4(TRIO):c.6914G>A (p.Gly2305Asp) rs552613615 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001379110.1(SLC9A6):c.*5_*6del rs781795776 0.00157
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001904.4(CTNNB1):c.1023C>T (p.Ser341=) rs34343353 0.00154
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001303052.2(MYT1L):c.954C>T (p.Ser318=) rs142499159 0.00153
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val) rs28363394 0.00153
NM_006086.4(TUBB3):c.435C>T (p.Ser145=) rs146421795 0.00153
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln) rs145722885 0.00153
NM_016495.6(TBC1D7):c.678A>G (p.Lys226=) rs17768021 0.00153
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_020461.4(TUBGCP6):c.4223C>T (p.Ala1408Val) rs142798996 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697 0.00150
NM_001009944.3(PKD1):c.5455G>T (p.Ala1819Ser) rs202119008 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_003482.4(KMT2D):c.9765T>C (p.His3255=) rs146213252 0.00148
NM_007137.5(ZNF81):c.417A>G (p.Ile139Met) rs189835360 0.00148
NM_014875.3(KIF14):c.3039G>A (p.Lys1013=) rs77213709 0.00148
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00148
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg) rs143908070 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_030928.4(CDT1):c.1581G>A (p.Ala527=) rs77893539 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825 0.00146
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=) rs143928644 0.00145
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) rs143955805 0.00143
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_006009.4(TUBA1A):c.396C>T (p.Leu132=) rs1143560 0.00143
NM_006420.3(ARFGEF2):c.1275C>T (p.His425=) rs117131028 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_001312909.2(FAM111A):c.828A>G (p.Ala276=) rs149943652 0.00141
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) rs141726041 0.00141
NM_152703.5(SAMD9L):c.1696G>A (p.Ala566Thr) rs143593856 0.00141
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262 0.00140
NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=) rs140288382 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr) rs146159734 0.00138
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_014953.5(DIS3):c.1202C>T (p.Ala401Val) rs76698610 0.00135
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) rs190659120 0.00134
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_004714.3(DYRK1B):c.83T>C (p.Leu28Pro) rs34587974 0.00132
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509 0.00132
NM_000516.7(GNAS):c.306G>A (p.Ala102=) rs117849691 0.00131
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_005357.4(LIPE):c.2181C>T (p.Gly727=) rs192667531 0.00131
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly) rs144908519 0.00131
NM_030632.3(ASXL3):c.3465G>A (p.Ser1155=) rs116554010 0.00130
NM_005491.5(MAMLD1):c.2157C>G (p.Ser719=) rs782661439 0.00129
NM_020831.6(MRTFA):c.1993G>A (p.Ala665Thr) rs72655385 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001099274.3(TINF2):c.400-9C>T rs201087708 0.00128
NM_004523.4(KIF11):c.1879G>T (p.Val627Leu) rs142601912 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_016222.4(DDX41):c.139-4T>G rs192297583 0.00127
NM_021784.5(FOXA2):c.465G>A (p.Lys155=) rs147303608 0.00127
NM_004523.4(KIF11):c.2044C>G (p.Leu682Val) rs141856144 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_001127208.3(TET2):c.2604T>G (p.Phe868Leu) rs147836249 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_006734.4(HIVEP2):c.2178C>T (p.Ser726=) rs149027798 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_015330.6(SPECC1L):c.1542G>A (p.Gln514=) rs139026931 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_014915.3(ANKRD26):c.4145T>A (p.Phe1382Tyr) rs78251061 0.00122
NM_000534.5(PMS1):c.2283T>C (p.Leu761=) rs150341545 0.00121
NM_001291303.3(FAT4):c.12479+8G>A rs150505878 0.00121
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=) rs141494621 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala) rs146606219 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00115
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) rs187184327 0.00114
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_002067.5(GNA11):c.189C>T (p.His63=) rs61731116 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_002291.3(LAMB1):c.5247C>T (p.Asp1749=) rs139780649 0.00105
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286 0.00105
NM_030665.4(RAI1):c.1279C>T (p.Leu427=) rs34898721 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_030928.4(CDT1):c.111C>T (p.Leu37=) rs587780304 0.00104
NM_015080.4(NRXN2):c.2918+6G>A rs144906809 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_020207.7(ERCC6L2):c.2486C>T (p.Thr829Ile) rs188610453 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_004933.3(CDH15):c.598G>A (p.Glu200Lys) rs141084668 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_001080517.3(SETD5):c.2544T>G (p.Leu848=) rs147128913 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_012156.2(EPB41L1):c.111C>T (p.His37=) rs140731421 0.00095
NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg) rs59595864 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_020831.6(MRTFA):c.1077C>T (p.Tyr359=) rs56325101 0.00094
NM_001543.5(NDST1):c.2577C>T (p.Leu859=) rs140123575 0.00093
NM_018013.4(SOBP):c.1416C>A (p.Pro472=) rs369211430 0.00092
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) rs12718465 0.00091
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_152703.5(SAMD9L):c.3567T>C (p.Tyr1189=) rs139124790 0.00091
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=) rs144080925 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183 0.00086
NM_013336.4(SEC61A1):c.784C>A (p.Arg262=) rs144643278 0.00086
NM_015080.4(NRXN2):c.3757+9C>T rs376552947 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_002894.3(RBBP8):c.109+6A>G rs149189755 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_004840.3(ARHGEF6):c.1764G>A (p.Pro588=) rs145081421 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn) rs142186771 0.00081
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_003356.4(UCP3):c.155C>T (p.Thr52Met) rs17848367 0.00081
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_014953.5(DIS3):c.1503+7A>G rs141627582 0.00081
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr) rs137971039 0.00081
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611 0.00080
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_006009.4(TUBA1A):c.226+10C>T rs199717430 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=) rs77922936 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_212550.5(BLOC1S3):c.-7C>G rs200767686 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn) rs181511327 0.00076
NM_032415.7(CARD11):c.945C>T (p.Asp315=) rs149430714 0.00076
NM_032833.5(PPP1R15B):c.413G>T (p.Ser138Ile) rs145021449 0.00076
NM_013328.4(PYCR2):c.924C>G (p.Leu308=) rs181648767 0.00075
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_004523.4(KIF11):c.2512A>C (p.Asn838His) rs34647366 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln) rs41268053 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032793.5(MFSD2A):c.630G>A (p.Thr210=) rs142303528 0.00069
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_000099.4(CST3):c.214G>T (p.Ala72Ser) rs202145575 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000681.4(ADRA2A):c.225G>C (p.Thr75=) rs12416313 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn) rs75041628 0.00067
NM_021008.4(DEAF1):c.1680G>C (p.Met560Ile) rs79183202 0.00067
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_006517.5(SLC16A2):c.447C>T (p.Leu149=) rs200444038 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) rs199797249 0.00065
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_022552.5(DNMT3A):c.72+10G>A rs370534287 0.00064
NM_181303.2(NLGN3):c.807C>T (p.Ser269=) rs151276700 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_004830.4(MED23):c.3819G>A (p.Ala1273=) rs150070422 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_001363.5(DKC1):c.-19G>C rs782563126 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001807.6(CEL):c.54G>A (p.Ala18=) rs539606155 0.00061
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) rs146712579 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_001415.4(EIF2S3):c.133+8T>C rs377239918 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=) rs112038748 0.00058
NM_013328.4(PYCR2):c.941C>G (p.Ala314Gly) rs117063721 0.00057
NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu) rs191224065 0.00057
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_000352.4(ABCC8):c.-544G>A rs184908312 0.00056
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_016222.4(DDX41):c.1622-5C>G rs374359854 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000142.5(FGFR3):c.1646-4C>T rs200428838 0.00054
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273 0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_152703.5(SAMD9L):c.1995A>C (p.Thr665=) rs142212031 0.00053
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_002875.5(RAD51):c.164C>T (p.Ala55Val) rs145617142 0.00051
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_032531.4(KIRREL3):c.870C>A (p.Ile290=) rs200243864 0.00051
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_002168.4(IDH2):c.1038C>T (p.Ala346=) rs190078206 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_019066.5(MAGEL2):c.1404C>A (p.Ala468=) rs2233064 0.00049
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) rs139561508 0.00049
NM_144969.3(ZDHHC15):c.747C>T (p.Cys249=) rs147278537 0.00049
NM_001330288.2(SMARCC2):c.1158A>G (p.Glu386=) rs34308410 0.00048
NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=) rs140428359 0.00048
NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser) rs186662317 0.00048
NM_004958.4(MTOR):c.7367-3T>C rs56412200 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_004523.4(KIF11):c.2775G>A (p.Thr925=) rs138462002 0.00047
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428 0.00047
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_001127208.3(TET2):c.3116C>T (p.Ser1039Leu) rs111678678 0.00046
NM_001206999.2(CIT):c.5072-6G>T rs200862487 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_007137.5(ZNF81):c.1539C>A (p.Leu513=) rs186529018 0.00046
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=) rs45588736 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001127208.3(TET2):c.2385C>T (p.Ser795=) rs112576862 0.00043
NM_001130969.3(NSMF):c.1401G>A (p.Gly467=) rs199663813 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=) rs148400203 0.00043
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_173560.4(RFX6):c.165C>T (p.Gly55=) rs368072920 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) rs202128602 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_002025.4(AFF2):c.303T>C (p.Ser101=) rs782198095 0.00039
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_001080414.4(CCDC88C):c.4621C>T (p.Arg1541Cys) rs151102993 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001346022.3(USP45):c.1253T>C (p.Ile418Thr) rs143233214 0.00038
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_001987.5(ETV6):c.496G>A (p.Val166Met) rs142603082 0.00037
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_004933.3(CDH15):c.2146A>G (p.Asn716Asp) rs147397532 0.00037
NM_004991.4(MECOM):c.3636A>C (p.Thr1212=) rs148539966 0.00037
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00037
NM_031466.8(TRAPPC9):c.-135A>G rs148523016 0.00037
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_001111077.2(EZR):c.1062T>C (p.Tyr354=) rs78196406 0.00035
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196 0.00035
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001127392.3(MYRF):c.1269C>T (p.Leu423=) rs143059056 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_145207.3(AFG2A):c.1616G>T (p.Arg539Met) rs74991481 0.00034
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_001318510.2(ACSL4):c.1856-9T>C rs201456393 0.00032
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_004523.4(KIF11):c.77+5G>C rs200188195 0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_020207.7(ERCC6L2):c.3416G>A (p.Arg1139Gln) rs370115465 0.00031
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_002948.5(RPL15):c.282T>C (p.Phe94=) rs143514719 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_002439.5(MSH3):c.356C>T (p.Ser119Phe) rs144607594 0.00028
NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe) rs74163669 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_199334.5(THRA):c.223-5C>G rs200727359 0.00028
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) rs187172641 0.00027
NM_001368882.1(COL13A1):c.304C>T (p.Leu102Phe) rs200528707 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp) rs142559324 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_014915.3(ANKRD26):c.531+9C>G rs142574680 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_144969.3(ZDHHC15):c.1008A>G (p.Glu336=) rs144128364 0.00026
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_032531.4(KIRREL3):c.174G>A (p.Val58=) rs373309027 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) rs142935139 0.00023
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_001448.3(GPC4):c.646G>T (p.Val216Leu) rs142826244 0.00022
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_016038.4(SBDS):c.357T>C (p.Cys119=) rs189441106 0.00022
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=) rs200783129 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_004153.4(ORC1):c.1239A>C (p.Ala413=) rs377164890 0.00019
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
NM_016222.4(DDX41):c.741G>A (p.Glu247=) rs143274979 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_000834.5(GRIN2B):c.1780+9G>A rs201461091 0.00017
NM_001070.5(TUBG1):c.1159-4C>T rs547943769 0.00017
NM_032638.5(GATA2):c.-106T>G rs915550032 0.00017
NM_001371928.1(AHDC1):c.1446C>T (p.Pro482=) rs138527675 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001987.5(ETV6):c.573G>T (p.Arg191=) rs35030220 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_016222.4(DDX41):c.1479C>T (p.Ser493=) rs148853192 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001368397.1(FRMPD4):c.3813C>T (p.His1271=) rs376423451 0.00015
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) rs141040521 0.00015
NM_032040.5(CCDC8):c.294C>A (p.Asp98Glu) rs201941979 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) rs202179285 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=) rs2278808 0.00014
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) rs141158465 0.00013
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032531.4(KIRREL3):c.1386G>A (p.Ser462=) rs377743404 0.00013
NM_001368397.1(FRMPD4):c.2256C>T (p.Asp752=) rs190804327 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) rs376847375 0.00012
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_016734.3(PAX5):c.244G>A (p.Val82Ile) rs587778589 0.00011
NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln) rs199603614 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369 0.00010
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_175875.5(SIX5):c.493C>T (p.Leu165=) rs368485758 0.00010
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) rs200598087 0.00009
NM_003560.4(PLA2G6):c.1742+12C>T rs11570739 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970 0.00009
NM_007294.4(BRCA1):c.*1327G>A rs184237074 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_020921.4(NIN):c.2244C>T (p.Ser748=) rs200278498 0.00009
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile) rs35597015 0.00009
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) rs201072457 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu) rs200807722 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001123385.2(BCOR):c.739C>T (p.Leu247=) rs139023119 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_032531.4(KIRREL3):c.88G>A (p.Val30Met) rs182260035 0.00008
NM_032638.5(GATA2):c.114G>A (p.Gln38=) rs775573177 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_006206.6(PDGFRA):c.1296G>A (p.Thr432=) rs374217334 0.00007
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr) rs550245456 0.00006
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_020461.4(TUBGCP6):c.3822G>A (p.Pro1274=) rs377666583 0.00006
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_000047.3(ARSL):c.867G>A (p.Gly289=) rs587783181 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=) rs371431256 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_003560.4(PLA2G6):c.39C>T (p.Gly13=) rs201497785 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_007118.4(TRIO):c.3067-4A>T rs200412925 0.00005
NM_017757.3(ZNF407):c.6042C>T (p.Pro2014=) rs369887612 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) rs147995584 0.00004
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_022455.5(NSD1):c.7403G>A (p.Arg2468Gln) rs587784217 0.00004
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) rs188565385 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_198525.3(KIF7):c.1159C>A (p.Arg387Ser) rs587780374 0.00004
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000834.5(GRIN2B):c.834C>A (p.Ile278=) rs199835162 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_005249.5(FOXG1):c.1218C>G (p.Ser406=) rs587783628 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=) rs35365412 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=) rs587780491 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_006009.4(TUBA1A):c.1203A>G (p.Lys401=) rs1065724 0.00002
NM_012216.4(MID2):c.1428G>A (p.Ala476=) rs534271877 0.00002
NM_015214.3(DDHD2):c.375T>C (p.Tyr125=) rs201640343 0.00002
NM_018026.4(PACS1):c.684C>T (p.Gly228=) rs548594376 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_032531.4(KIRREL3):c.1786T>C (p.Ser596Pro) rs773813451 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His) rs1139445 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) rs587783308 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu) rs587783320 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000969.5(RPL5):c.795-9C>A rs748765097 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) rs781942427 0.00001
NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=) rs532597121 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001195553.2(DCX):c.339C>A (p.Ile113=) rs587783543 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=) rs587780489 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00001
NM_001378778.1(MPDZ):c.5634T>C (p.Ala1878=) rs763333032 0.00001
NM_001378778.1(MPDZ):c.663C>T (p.Ala221=) rs35476999 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_003038.5(SLC1A4):c.1353G>A (p.Val451=) rs531478111 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_006031.6(PCNT):c.142G>C (p.Ala48Pro) rs373411902 0.00001
NM_006734.4(HIVEP2):c.3205G>T (p.Val1069Leu) rs534200523 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_017780.4(CHD7):c.350G>A (p.Gly117Asp) rs372110761 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018941.4(CLN8):c.562C>T (p.Leu188=) rs587780318 0.00001
NM_022455.5(NSD1):c.2242A>G (p.Asn748Asp) rs587784083 0.00001
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala) rs587784102 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) rs587784216 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.5010+9C>A rs536151596 0.00001
NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=) rs587783962 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001
NC_000003.12:g.169765305C>T rs116780570
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1379_1380insGCG (p.Gly460_Gly461insArg) rs1555969966
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000047.3(ARSL):c.495T>G (p.His165Gln) rs35274634
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu) rs797045326
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr) rs2234935
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000053.3(ATP7B):c.-119delG rs587783297
NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu) rs587783298
NM_000053.4(ATP7B):c.1707+9TG[3] rs797045401
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg) rs587783304
NM_000053.4(ATP7B):c.2673C>G (p.Gly891=) rs587783305
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) rs587783311
NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=) rs587783312
NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn) rs587783313
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser) rs587783316
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) rs587783319
NM_000053.4(ATP7B):c.870G>C (p.Val290=) rs587783321
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000173.7(GP1BA):c.1311_1349del (p.415_427SEPAPSPTTPEPT[2]) rs770991996
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) rs1259394995
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000207.2(INS):c.-147del rs563630291
NM_000207.2(INS):c.-379_-372dup rs1329632206
NM_000207.2(INS):c.-463_-451del rs1564913081
NM_000207.2(INS):c.-485_-430del rs1564913027
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[14] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000252.3(MTM1):c.1254T>C (p.Phe418=) rs587783767
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.561T>C (p.Phe187=) rs587783837
NM_000252.3(MTM1):c.684G>C (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser) rs1587701162
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000303.2(PMM2):c.-291C>A rs145394389
NM_000303.2(PMM2):c.-298C>T rs113804940
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000381.4(MID1):c.661-22_661-21dup rs375668839
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000419.5(ITGA2B):c.1945G>T (p.Val649Leu) rs7207402
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000525.4(KCNJ11):c.-507del rs35513985
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys) rs587783667
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000791.4(DHFR):c.-437GGGGCGCTG[4] rs60484572
NM_000791.4(DHFR):c.-437GGGGCGCTG[5] rs60484572
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_001004320.2(AGMO):c.60_61dup (p.Tyr21fs) rs370025027
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048166.1(STIL):c.3486T>G (p.Pro1162=) rs2758735
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys) rs3814839
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.186C>G (p.Leu62=) rs11538454
NM_001083961.2(WDR62):c.269+12del rs797046108
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001109809.5(ZFP57):c.374G>A (p.Arg125Gln) rs114591600
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110792.2(MECP2):c.1238G>C (p.Ser413Thr) rs62707562
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001111125.3(IQSEC2):c.201G>C (p.Leu67=) rs587780359
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=) rs531585800
NM_001128178.3(NPHP1):c.771+22A>T rs587780405
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001130438.3(SPTAN1):c.3486C>G (p.Leu1162=) rs2227864
NM_001130438.3(SPTAN1):c.5406C>G (p.Thr1802=) rs2227862
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134665.3(TRMT10A):c.206G>A (p.Arg69His) rs147815779
NM_001164508.2(NEB):c.14734A>G (p.Asn4912Asp) rs10909569
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001190417.2(ZNF674):c.1202T>C (p.Ile401Thr) rs587780526
NM_001195553.2(DCX):c.578del (p.Lys193fs) rs797045516
NM_001199397.3(NEK1):c.2588-12_2588-11del rs374055570
NM_001206999.2(CIT):c.4068C>T (p.Ile1356=) rs56006347
NM_001242908.2(RSPO1):c.741GCA[5] (p.Gln251dup) rs563949840
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001247997.2(CLIP1):c.3967-11dup rs376224001
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001278116.2(L1CAM):c.1704-12G>C rs916169
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2388C>T (p.Val796=) rs35467614
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del) rs797045741
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001353108.3(CEP63):c.1673+12dup rs35934324
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.217-10del rs766044503
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg) rs587783363
NM_001367721.1(CASK):c.2521-2A>T rs398122845
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1585CCG[6] (p.Pro533_Ser534insPro) rs572236007
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124_Ala125insSer) rs770512547
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214_His215insGln) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214_His215insGln) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln214_His215insGlnGln) rs587779744
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.7981T>G (p.Leu2661Val) rs367991209
NM_001378183.1(PIEZO2):c.6202T>C (p.Leu2068=) rs112982077
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378418.1(TCF20):c.150CAGTGG[2] (p.51SG[2]) rs541147459
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759
NM_001379500.1(COL18A1):c.3311C>G (p.Pro1104Arg) rs187670025
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.907-17_907-8del rs797045561
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_001643.2(APOA2):c.53-43TG[22] rs17244502
NM_001807.6(CEL):c.61G>T (p.Ala21Ser) rs558100781
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001904.4(CTNNB1):c.1785C>T (p.Thr595=) rs587780325
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=) rs3744553
NM_002519.3(NPAT):c.*836_*837del rs200169344
NM_002519.3(NPAT):c.2446A>G (p.Thr816Ala) rs34027029
NM_002519.3(NPAT):c.3199G>A (p.Asp1067Asn) rs79119325
NM_002520.7(NPM1):c.522A>G (p.Glu174=)
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002547.3(OPHN1):c.903G>C (p.Thr301=) rs370014854
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_003051.3(SLC16A1):c.-246dup rs58047463
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=) rs558384854
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003159.3(CDKL5):c.2980+21G>C rs148531754
NM_003392.7(WNT5A):c.405G>T (p.Thr135=) rs147104982
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.5592C>A (p.Gly1864=) rs587783720
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003647.3(DGKE):c.744+17del rs561537916
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004113.6(FGF12):c.229-9_229-8del rs34265167
NM_004171.4(SLC1A2):c.1179A>G (p.Gly393=) rs148798506
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004380.3(CREBBP):c.4560+7G>A rs587783498
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.7098G>C (p.Arg2366=) rs587783513
NM_004387.4(NKX2-5):c.*61G>T rs703752
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.2110+6T>C rs41277434
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004615.4(TSPAN7):c.516C>A (p.Pro172=) rs142657644
NM_004836.6(EIF2AK3):c.-612_-597dup rs11272621
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
NM_005257.6(GATA6):c.969CCA[9] (p.His333del) rs562588574
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro) rs35147998
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006265.3(RAD21):c.1162-6del rs369816312
NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=) rs61748373
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006662.3(SRCAP):c.189C>G (p.Pro63=) rs79656879
NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=) rs559329860
NM_006910.5(RBBP6):c.504A>C (p.Gly168=)
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly) rs141978531
NM_012156.2(EPB41L1):c.1640C>G (p.Pro547Arg) rs6089016
NM_012156.2(EPB41L1):c.531G>T (p.Pro177=) rs139137163
NM_012216.4(MID2):c.1074-4del rs758037994
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) rs756656381
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014168.4(METTL5):c.109+9G>A
NM_014171.6(CRIPT):c.138-5del rs60552651
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_014832.5(TBC1D4):c.3664-19dup rs35186786
NM_014915.3(ANKRD26):c.-77C>G rs546768605
NM_014915.3(ANKRD26):c.1571A>G (p.His524Arg) rs199656285
NM_014915.3(ANKRD26):c.1590AGA[2] (p.Glu533del) rs138423863
NM_014915.3(ANKRD26):c.937G>T (p.Asp313Tyr) rs61730102
NM_014953.5(DIS3):c.2533A>G (p.Ile845Val)
NM_015080.4(NRXN2):c.2537-8C>T rs797045799
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607
NM_016343.4(CENPF):c.2101A>C (p.Met701Leu) rs3795524
NM_016734.3(PAX5):c.1100-11G>A rs149896434
NM_016955.4(SEPSECS):c.115-18dup rs34423002
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017763.6(RNF43):c.576G>A (p.Pro192=) rs76384648
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.5051-4C>A rs71640288
NM_017780.4(CHD7):c.6843T>G (p.Asp2281Glu) rs587783453
NM_017951.5(SMPD4):c.1758A>G (p.Ser586=)
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del) rs541688197
NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup) rs541688197
NM_018036.7(ATG2B):c.4368C>T (p.Asp1456=) rs146800472
NM_018136.5(ASPM):c.3714T>C (p.Asp1238=) rs587783233
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.5629G>T (p.Ala1877Ser) rs112230218
NM_018136.5(ASPM):c.606A>G (p.Glu202=) rs587783254
NM_018136.5(ASPM):c.7576A>G (p.Asn2526Asp) rs587783267
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018249.6(CDK5RAP2):c.1312-27T>G rs587783381
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018451.5(CPAP):c.2992-17dup rs35599563
NM_018451.5(CPAP):c.3704-14_3704-12del rs34991318
NM_018451.5(CPAP):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu) rs35498994
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020066.5(FMN2):c.659AGC[7] (p.Gln225dup) rs532298569
NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln) rs151308487
NM_020451.3(SELENON):c.1092+6C>G rs148071754
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_020822.3(KCNT1):c.711C>G (p.Pro237=) rs117286274
NM_020831.6(MRTFA):c.2004C>G (p.Pro668=) rs373182628
NM_020987.5(ANK3):c.1690-15_1690-13dup rs34796699
NM_020987.5(ANK3):c.1690-15_1690-14dup rs34796699
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021738.3(SVIL):c.3776T>C (p.Met1259Thr)
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021956.5(GRIK2):c.724-7del rs2243352
NM_022095.4(ZNF335):c.815-3del rs551678383
NM_022173.4(TIA1):c.223-3dup rs750862626
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.3888A>G (p.Lys1296=) rs587784106
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=) rs144562009
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.5869C>T (p.Arg1957Trp) rs587784161
NM_022455.5(NSD1):c.6393C>G (p.Val2131=) rs587784194
NM_023067.4(FOXL2):c.858T>G (p.Pro286=)
NM_024408.4(NOTCH2):c.112G>A (p.Glu38Lys) rs61788901
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr) rs2603926
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.2282C>A (p.Ala761Glu) rs1057090
NM_024596.5(MCPH1):c.2282C>G (p.Ala761Gly) rs1057090
NM_025009.5(CEP135):c.297C>T (p.His99=) rs115408010
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.4(CEP290):c.3574-9T>G rs202038547
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784
NM_025265.4(TSEN2):c.122G>C (p.Arg41Pro) rs12495784
NM_025265.4(TSEN2):c.122G>T (p.Arg41Leu) rs12495784
NM_025265.4(TSEN2):c.162G>C (p.Ala54=) rs78685815
NM_030582.4(COL18A1):c.3367_3384del (p.Pro1123_Gly1128del) rs2146075191
NM_030632.3(ASXL3):c.3929A>C (p.Glu1310Ala) rs75740578
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[11] (p.Gln290_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup) rs371983878
NM_032110.3(DMRTA2):c.1166CCG[7] (p.Ala396_Ala397del) rs4027495
NM_032122.5(DTNBP1):c.489-9_489-8dup rs199770715
NM_032444.4(SLX4):c.1163+10C>G rs80116508
NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del) rs532050128
NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly) rs532050128
NM_080632.3(UPF3B):c.263+7_263+18dup rs55712755
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.*84del rs587783876
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=) rs587783900
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val) rs587783929
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=) rs587783956
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=) rs587783958
NM_133433.4(NIPBL):c.5225+13G>A rs587783963
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=) rs587783965
NM_133433.4(NIPBL):c.5709+7T>G rs587783981
NM_133433.4(NIPBL):c.5863-12_5863-11insAT rs797045774
NM_133433.4(NIPBL):c.5863-12_5863-11insATAT rs797045774
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.7860+9T>G rs587784051
NM_133444.3(ZNF526):c.1585C>T (p.Gln529Ter) rs587780525
NM_133444.3(ZNF526):c.1649A>C (p.His550Pro) rs587780523
NM_133444.3(ZNF526):c.752AGG[1] (p.Glu252del) rs367731450
NM_138711.6(PPARG):c.801C>G (p.Pro267=) rs13306747
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del) rs779275354
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144969.3(ZDHHC15):c.164-8del rs199537523
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650
NM_181332.3(NLGN4X):c.54C>T (p.Cys18=) rs587780404
NM_182914.3(SYNE2):c.11944A>C (p.Asn3982His) rs10137972
NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg) rs8010699
NM_201589.4(MAFA):c.708G>A (p.Ser236=)
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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