ClinVar Miner

List of variants reported as benign by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1384
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99985
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=) rs2955379 0.99481
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr) rs6503640 0.99456
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_130797.4(DPP6):c.723A>G (p.Lys241=) rs3807218 0.82535
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000465.4(BARD1):c.1518T>C (p.His506=) rs2070093 0.74904
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_020041.3(SLC2A9):c.375G>A (p.Thr125=) rs10939650 0.72256
NM_000486.6(AQP2):c.501T>C (p.Ser167=) rs426496 0.70780
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000744.7(CHRNA4):c.*534C>T rs2236196 0.62296
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_024496.4(IRF2BPL):c.348G>A (p.Gln116=) rs28692724 0.59653
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) rs4820268 0.59140
NM_000526.5(KRT14):c.193C>T (p.Leu65=) rs3826551 0.58145
NM_000526.5(KRT14):c.189C>T (p.Cys63=) rs11551758 0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=) rs3826549 0.56333
NM_001365276.2(TNXB):c.*163G>A rs1058152 0.54891
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) rs2229571 0.53291
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338 0.45281
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) rs2272662 0.43646
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
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_005581.5(BCAM):c.1615A>G (p.Thr539Ala) rs1135062 0.32876
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000581.4(GPX1):c.599C>T (p.Pro200Leu) rs1050450 0.30347
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) rs16890979 0.28912
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_006659.4(TUBGCP2):c.1214+12C>T rs72864793 0.27173
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148 0.26687
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) rs10878405 0.26650
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) rs1137100 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_002281.4(KRT81):c.735+4C>T rs12812669 0.23428
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_000424.4(KRT5):c.594C>A (p.Thr198=) rs641621 0.22738
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_057175.5(NAA15):c.1753+12del rs3217605 0.21617
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_014697.3(NOS1AP):c.1002C>T (p.Arg334=) rs348624 0.20782
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_003784.4(SERPINB7):c.797G>A (p.Arg266Gln) rs17782413 0.19172
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_000278.5(PAX2):c.798C>T (p.Asn266=) rs1800897 0.12916
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_014000.3(VCL):c.*1854A>C rs3829204 0.11656
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10979
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_005502.4(ABCA1):c.814-14dup rs2067484 0.10846
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) rs3746802 0.09243
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) rs7966550 0.08994
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=) rs6524946 0.08938
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328 0.08934
NM_018979.4(WNK1):c.759+16_759+18dup rs398088143 0.08796
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.06843
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000095.3(COMP):c.1755G>A (p.Thr585=) rs34467947 0.04927
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_017570.5(OPLAH):c.3721-20del rs148937107 0.03336
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) rs17073260 0.03059
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_001205293.3(CACNA1E):c.3263-15G>A rs11808627 0.02783
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_001148.6(ANK2):c.384+19C>T rs45502093 0.02751
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_017672.6(TRPM7):c.1131+3A>G rs79443717 0.02557
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_003114.5(SPAG1):c.1536-9C>G rs112884253 0.02211
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_006662.3(SRCAP):c.306+4C>T rs58723456 0.02136
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156 0.02124
NM_130797.4(DPP6):c.813G>A (p.Gln271=) rs61736427 0.02116
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_005215.4(DCC):c.91+7G>A rs112558388 0.02064
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_152743.4(BRAT1):c.924-14G>A rs113638677 0.02010
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_000078.3(CETP):c.-65G>A rs17231520 0.01971
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_021831.6(AGBL5):c.2046T>A (p.Ser682=) rs34931609 0.01806
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_018979.4(WNK1):c.3490-5T>A rs72650719 0.01759
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_012418.4(FSCN2):c.381G>A (p.Pro127=) rs34454351 0.01717
NM_182643.3(DLC1):c.1530G>A (p.Ala510=) rs1127606 0.01715
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001750.7(CAST):c.1207G>C (p.Ala403Pro) rs76738700 0.01666
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563 0.01649
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile) rs61739354 0.01613
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg) rs35661993 0.01612
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_001365276.2(TNXB):c.11387-9T>C rs2894233 0.01611
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) rs34370932 0.01563
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_002585.4(PBX1):c.701+13T>G rs74118205 0.01519
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_000078.3(CETP):c.66C>A (p.Thr22=) rs5884 0.01514
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_000718.4(CACNA1B):c.5649+9C>A rs58892401 0.01502
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) rs61742228 0.01462
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_001013703.4(EIF2AK4):c.4562-12T>G rs7165452 0.01444
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_006593.4(TBR1):c.1134A>G (p.Thr378=) rs79294493 0.01425
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309 0.01415
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000894.3(LHB):c.233C>A (p.Thr78Asn) rs116437960 0.01395
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_198578.4(LRRK2):c.3778-9C>T rs114948984 0.01375
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) rs61743301 0.01372
NM_018192.4(P3H2):c.972A>G (p.Lys324=) rs34558237 0.01372
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_022042.4(SLC26A1):c.513C>T (p.Cys171=) rs114936403 0.01361
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_004998.4(MYO1E):c.511-19A>T rs2306782 0.01292
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000312.4(PROC):c.1107G>A (p.Pro369=) rs61731660 0.01266
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) rs78648341 0.01238
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_000312.4(PROC):c.400+13G>A rs116738363 0.01228
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=) rs34910192 0.01216
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=) rs16846517 0.01187
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_015158.5(KANK1):c.624C>G (p.Ala208=) rs116178720 0.01172
NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=) rs115268777 0.01163
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_001349206.2(LPIN1):c.597-18T>A rs75093910 0.01098
NM_018685.5(ANLN):c.1686G>A (p.Ser562=) rs34371129 0.01094
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_001376256.1(CRYM):c.741C>T (p.Tyr247=) rs34045013 0.01064
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser) rs146886270 0.01035
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_203395.3(IYD):c.323A>G (p.Asn108Ser) rs111758467 0.01029
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) rs61744966 0.01027
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_212482.4(FN1):c.1425G>C (p.Gly475=) rs59884263 0.01019
NM_014491.4(FOXP2):c.570A>G (p.Gln190=) rs61758964 0.01012
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_000278.5(PAX2):c.792+9G>A rs79552202 0.00974
NM_001330691.3(CEP78):c.955G>C (p.Glu319Gln) rs61730338 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_002661.5(PLCG2):c.3482-3C>T rs74856898 0.00935
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_032578.4(MYPN):c.-2+9C>T rs75716608 0.00900
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_001163435.3(TBCK):c.1898-20G>T rs45462491 0.00895
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=) rs35019459 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_012262.4(HS2ST1):c.364-8C>T rs191652191 0.00861
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768 0.00849
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_017909.4(RMND1):c.783C>T (p.Ile261=) rs17081207 0.00841
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val) rs9892290 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu) rs12944385 0.00750
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_182476.3(COQ6):c.1184C>T (p.Thr395Met) rs34746680 0.00726
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) rs34029982 0.00725
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001080512.3(BICC1):c.846T>C (p.Ala282=) rs145237525 0.00717
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00696
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) rs139042772 0.00687
NM_000789.4(ACE):c.656-9C>T rs12720734 0.00679
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=) rs75946243 0.00643
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_000210.4(ITGA6):c.986+14A>C rs138182078 0.00578
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_001395656.1(ROBO2):c.1861+8C>G rs144780438 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_001144967.3(NEDD4L):c.2753-4C>T rs116251315 0.00571
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val) rs78892546 0.00566
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_022370.4(ROBO3):c.1189C>A (p.Pro397Thr) rs114572753 0.00563
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_002336.3(LRP6):c.2382C>T (p.Asn794=) rs74774620 0.00556
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln) rs118086587 0.00554
NM_002336.3(LRP6):c.3192A>G (p.Val1064=) rs114714311 0.00552
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_018417.6(ADCY10):c.4075C>T (p.Leu1359=) rs73039538 0.00545
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_198075.4(LRRC56):c.35G>A (p.Arg12Gln) rs2277269 0.00533
NM_021926.4(ALX4):c.69G>C (p.Pro23=) rs115968657 0.00532
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_004074.3(COX8A):c.111C>A (p.Ile37=) rs61759492 0.00525
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_212482.4(FN1):c.199C>A (p.Arg67=) rs112643151 0.00519
NM_015690.5(STK36):c.3540C>T (p.Ala1180=) rs2241528 0.00518
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_014314.4(RIGI):c.1737C>T (p.Phe579=) rs116612738 0.00517
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_000210.4(ITGA6):c.*58T>C rs150113724 0.00509
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=) rs57112868 0.00508
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) rs60720455 0.00507
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala) rs149585221 0.00499
NM_004646.4(NPHS1):c.1440+19C>T rs113470432 0.00498
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_005472.5(KCNE3):c.-244G>A rs114110954 0.00488
NM_005472.5(KCNE3):c.-245A>G rs115848768 0.00488
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) rs58764017 0.00488
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_017491.5(WDR1):c.743A>G (p.His248Arg) rs41268387 0.00483
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) rs148874494 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_014000.3(VCL):c.1557C>A (p.Ile519=) rs150120464 0.00466
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_004525.3(LRP2):c.79+7G>A rs376136995 0.00460
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp) rs61751747 0.00444
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) rs17175350 0.00438
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_173560.4(RFX6):c.2398+17G>T rs142448060 0.00437
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) rs150136669 0.00436
NM_005506.4(SCARB2):c.1239+14C>T rs143699909 0.00432
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=) rs60415676 0.00425
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_000257.4(MYH7):c.3972+16G>A rs114978322 0.00424
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_017570.5(OPLAH):c.402G>A (p.Leu134=) rs200748510 0.00423
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_173689.7(CRB2):c.2748C>T (p.Ala916=) rs372726074 0.00422
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00421
NM_030761.5(WNT4):c.483C>T (p.Tyr161=) rs149600184 0.00421
NM_003098.3(SNTA1):c.701+10G>A rs6057846 0.00419
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_201596.3(CACNB2):c.214-61251C>A rs117558767 0.00414
NM_018979.4(WNK1):c.2052A>G (p.Ala684=) rs72648690 0.00413
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=) rs142049079 0.00390
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001680.5(FXYD2):c.195G>A (p.Glu65=) rs144519777 0.00367
NM_002458.3(MUC5B):c.16859C>T (p.Ala5620Val) rs113495521 0.00367
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000901.5(NR3C2):c.1791A>G (p.Ser597=) rs34905604 0.00366
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_003647.3(DGKE):c.1440T>C (p.Val480=) rs2230873 0.00354
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_004366.6(CLCN2):c.2415+9A>G rs192449317 0.00351
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala) rs113884104 0.00344
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_174934.4(SCN4B):c.639C>T (p.Asn213=) rs72544155 0.00341
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=) rs150638179 0.00332
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=) rs138478973 0.00331
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_005515.4(MNX1):c.234G>A (p.Pro78=) rs867731047 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=) rs143353908 0.00316
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_017947.4(MOCOS):c.142+20T>C rs373431975 0.00309
NM_022454.4(SOX17):c.1206C>G (p.Ala402=) rs147091895 0.00307
NM_020041.3(SLC2A9):c.123T>C (p.Ser41=) rs112581525 0.00304
NM_001039570.3(KREMEN1):c.1242G>A (p.Arg414=) rs16987147 0.00303
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_212482.4(FN1):c.4146A>G (p.Pro1382=) rs114987066 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro) rs58966182 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) rs563226142 0.00273
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=) rs144584524 0.00266
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) rs45577437 0.00260
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_145038.5(DRC1):c.2166+16_2166+17insA rs546596010 0.00252
NM_182643.3(DLC1):c.2199C>T (p.Ser733=) rs34941980 0.00252
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) rs370919547 0.00243
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
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_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala) rs72657315 0.00235
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) rs139743735 0.00235
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_004646.4(NPHS1):c.59-19C>A rs115350784 0.00214
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp) rs199587983 0.00209
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_001370595.2(COA8):c.476+19C>T rs182242924 0.00201
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00195
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=) rs140511721 0.00185
NM_001963.6(EGF):c.2491+20C>A rs11569030 0.00183
NM_000213.5(ITGB4):c.5218+12T>C rs55696316 0.00182
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=) rs148295264 0.00181
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
NM_032607.3(CREB3L3):c.891-14C>T rs192623406 0.00180
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg) rs77002741 0.00176
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_032340.4(UQCC2):c.225C>A (p.Pro75=) rs114881155 0.00173
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=) rs148084212 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_213655.5(WNK1):c.2659T>C (p.Leu887=) rs72649855 0.00167
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg) rs201638755 0.00166
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00164
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697 0.00150
NM_000718.4(CACNA1B):c.6072G>A (p.Thr2024=) rs201904272 0.00150
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu) rs148092370 0.00150
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=) rs144765511 0.00146
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) rs143316426 0.00135
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_001312909.2(FAM111A):c.1758G>A (p.Lys586=) rs144353692 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_144670.6(A2ML1):c.2463+13G>C rs151032368 0.00123
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_004525.3(LRP2):c.9033-9A>G rs143892351 0.00119
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_004064.5(CDKN1B):c.-126C>T rs549943001 0.00118
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_004924.6(ACTN4):c.738C>T (p.Ile246=) rs34491236 0.00115
NM_014669.5(NUP93):c.180-11T>A rs138944474 0.00114
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_001843.4(CNTN1):c.2980+19A>T rs181426756 0.00112
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=) rs139854035 0.00110
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00108
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr) rs76334433 0.00105
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_004560.4(ROR2):c.937+16C>T rs112054737 0.00101
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=) rs370069597 0.00099
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) rs146559698 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_000719.7(CACNA1C):c.4074+14A>G rs371806132 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_021098.3(CACNA1H):c.5173+18C>T rs373269618 0.00089
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_144773.4(PROKR2):c.1122C>A (p.Thr374=) rs76469093 0.00085
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) rs144356360 0.00083
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser) rs146614981 0.00083
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_020041.3(SLC2A9):c.351C>T (p.Phe117=) rs148002726 0.00082
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) rs56282370 0.00081
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) rs8178235 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_004998.4(MYO1E):c.2627+8C>T rs12232341 0.00074
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_016335.6(PRODH):c.1252-14C>T rs189009057 0.00073
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_001046.3(SLC12A2):c.2005+9T>C rs10463502 0.00071
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543 0.00070
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys) rs75437827 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) rs115758363 0.00053
NM_021098.3(CACNA1H):c.3970-6C>T rs200403676 0.00053
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His) rs149434700 0.00053
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=) rs2290333 0.00045
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His) rs116930509 0.00038
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926 0.00037
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001458.5(FLNC):c.3964+9C>T rs200448727 0.00033
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_001288705.3(CSF1R):c.1510+16C>T rs200626267 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg) rs142595873 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_017947.4(MOCOS):c.363G>A (p.Thr121=) rs376254012 0.00026
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser) rs146999807 0.00025
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_004946.3(DOCK2):c.264A>G (p.Ala88=) rs201493926 0.00020
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=) rs568574676 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_001288705.3(CSF1R):c.1929C>T (p.His643=) rs184499252 0.00015
NM_001963.6(EGF):c.1066+10G>C rs76435576 0.00015
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001080512.3(BICC1):c.1038A>G (p.Gln346=) rs200603263 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001085487.3(MYSM1):c.2031+8A>G rs201679870 0.00012
NM_004070.4(CLCNKA):c.867-8C>T rs200325856 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg) rs200742037 0.00007
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000133.4(F9):c.658T>A (p.Ser220Thr) rs777361659 0.00004
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val) rs200164302 0.00004
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) rs138893620 0.00004
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001750.7(CAST):c.1441G>A (p.Ala481Thr) rs546937644 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 0.00003
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000276.4(OCRL):c.2582-9G>A rs2071705 0.00001
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545 0.00001
NM_001267550.2(TTN):c.67637-9A>G rs2047164551 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln) rs750579766 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000044.6(AR):c.171GCA[22] (p.Gln80del) rs3032358
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) rs71469175
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) rs6698427
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000125.4(ESR1):c.30T>C (p.Ser10=) rs2077647
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000210.4(ITGA6):c.2245-3del rs746830225
NM_000244.4(MEN1):c.-35A>T rs679946
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly) rs56850150
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000488.4(SERPINC1):c.409-12dup rs201656611
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.799+17G>A rs61751156
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr) rs34398255
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000562.3(C8A):c.107C>A (p.Ala36Glu) rs116201358
NM_000785.4(CYP27B1):c.386+14G>T rs373607899
NM_000987.5(RPL26):c.-5-16_-5-15del rs533883480
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001039348.3(EFEMP1):c.1000+19del rs56280335
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.636-22_636-19del rs558953371
NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4]) rs147985313
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001144967.3(NEDD4L):c.2488-8del rs751368482
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001256007.3(PNPLA8):c.1626-15del rs3214243
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001354768.3(NRL):c.-28+11215dup rs61497654
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
NM_001366385.1(CARD14):c.2219+14T>G rs8069255
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001371333.1(DIABLO):c.51-318dup rs5801478
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) rs3135506
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_001448.3(GPC4):c.320-15del rs57898529
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001957.4(EDNRA):c.748-19_748-18insCT rs71594223
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_002160.4(TNC):c.6099C>T (p.Arg2033=) rs58547879
NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup) rs3831942
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002340.6(LSS):c.181-27dup rs10550493
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002585.4(PBX1):c.266-15_266-14insTT rs139680846
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002838.5(PTPRC):c.2848-4del rs57296163
NM_002838.5(PTPRC):c.2848-5_2848-4del rs57296163
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003470.3(USP7):c.3202+20dup rs3214650
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_004130.4(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.13519-40CT[12] rs138614485
NM_004525.3(LRP2):c.13519-40CT[13] rs138614485
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.172-38dup rs751742289
NM_004621.6(TRPC6):c.2645-22_2645-20del rs59743346
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004736.4(XPR1):c.1135-8dup rs113553362
NM_004960.4(FUS):c.518_523del
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_005006.7(NDUFS1):c.154-33dup rs568965659
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005235.3(ERBB4):c.1947-28dup rs57466272
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005619.5(RTN2):c.-170GGC[16] rs3038807
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006346.4(PIBF1):c.1223+15dup rs200683940
NM_006348.5(COG5):c.1750-3dup rs746706902
NM_006348.5(COG5):c.538+6dup rs201626701
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg) rs76079250
NM_006440.5(TXNRD2):c.949+437del rs35599379
NM_006580.4(CLDN16):c.-45del rs368234054
NM_007214.5(SEC63):c.1210-18dup rs370485907
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014423.4(AFF4):c.963+12dup rs56817345
NM_014822.4(SEC24D):c.1422-9dup rs71595318
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7]) rs76317765
NM_016103.4(SAR1B):c.480+18del rs199526981
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_017570.5(OPLAH):c.3721-11dup rs782568024
NM_018060.4(IARS2):c.268-8del rs376359534
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018076.5(ODAD2):c.383-6del rs10599433
NM_018082.6(POLR3B):c.1102-3dup rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup rs202125845
NM_018082.6(POLR3B):c.72+184_72+188del rs139244819
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018417.6(ADCY10):c.254-6del rs746507234
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_020041.3(SLC2A9):c.1420-19del rs376925476
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020771.4(HACE1):c.2443-5_2443-3del rs72218235
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021911.3(GABRB2):c.-152-8del rs56867928
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024496.4(IRF2BPL):c.342_344del (p.Gln127del) rs773628724
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_030667.3(PTPRO):c.2997+18del rs751345733
NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=) rs144347297
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032801.5(JAM3):c.410-14_410-13insCTT rs3216140
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) rs3746803
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_079420.3(MYL1):c.1dup (p.Met1fs) rs544557603
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181741.4(ORC4):c.763-9del rs66919703
NM_182914.3(SYNE2):c.2647-4_2647-3dup rs397726340
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.6844-8dup rs72546334
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_212482.4(FN1):c.1942-38GT[12] rs5838511
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly) rs67681514

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