ClinVar Miner

List of variants reported by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 47386
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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_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
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_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
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_000029.4(AGT):c.1116A>G (p.Leu372=) rs7080 0.94659
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
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_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
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_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
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_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
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_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
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_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_002661.5(PLCG2):c.2236-14C>G rs12446127 0.48966
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_000277.3(PAH):c.441+47C>T rs1718301 0.37849
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_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
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_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
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_001441.3(FAAH):c.385C>A (p.Pro129Thr) rs324420 0.26554
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_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
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_000685.5(AGTR1):c.*86A>C rs5186 0.20976
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_016335.6(PRODH):c.1278C>T (p.Asp426=) rs16983466 0.20443
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_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
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_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17850
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17640
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_000660.7(TGFB1):c.861-20C>T rs8179181 0.17369
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
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_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_030773.4(TUBB1):c.920G>A (p.Arg307His) rs6070697 0.16486
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_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
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_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
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_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
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_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
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_139281.3(WDR36):c.1717-20T>A rs59359951 0.10369
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_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
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_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
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_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_001024630.4(RUNX2):c.423+39G>C rs3749864 0.08101
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
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_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
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_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
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_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
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_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
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_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
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_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_014000.3(VCL):c.*1853A>C rs554923257 0.04999
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
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_018429.3(BDP1):c.2373-15C>T rs66954493 0.04829
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
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_016617.4(UFM1):c.118-20T>A rs545735907 0.04575
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) rs60199637 0.04502
NM_031892.3(SH3KBP1):c.1266G>A (p.Pro422=) rs2290805 0.04501
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_021828.5(HPSE2):c.957-28_957-19dup rs113633161 0.04498
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
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_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
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_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
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_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
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_001388492.1(HTT):c.7765+10G>A rs79218467 0.03400
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_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_001320198.2(KRT86):c.684T>C (p.Asn228=) rs200750977 0.03259
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) rs17073260 0.03059
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_017565.4(FAM20A):c.640+11T>C rs8071830 0.02884
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903 0.02854
NM_016030.6(TRAPPC12):c.1417+16T>C rs112370205 0.02827
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
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_182548.4(LHFPL5):c.*506A>T rs370002177 0.02744
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
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_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_213595.4(ISCU):c.419-162C>T rs73404738 0.02683
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs) rs776735350 0.02660
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_032387.5(WNK4):c.1477-13A>G rs61754357 0.02638
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 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_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=) rs111770829 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001170535.3(ATAD3A):c.1267-8C>G rs186268381 0.02490
NM_016341.4(PLCE1):c.3132C>T (p.His1044=) rs61732522 0.02481
NM_005554.4(KRT6A):c.1203+13A>G rs56654203 0.02469
NM_001083619.3(GRIA2):c.2044-19C>T rs114192841 0.02466
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_182641.4(BPTF):c.36C>G (p.Pro12=) rs868242186 0.02432
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_001012750.3(ABI1):c.*1940A>C rs1046187 0.02265
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_000891.3(KCNJ2):c.-163_-162insTC rs61077847 0.02248
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT rs58144126 0.02246
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
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_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_003114.5(SPAG1):c.1536-9C>G rs112884253 0.02211
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_004698.4(PRPF3):c.1760-12C>T rs116427288 0.02182
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=) rs61736291 0.02140
NM_006662.3(SRCAP):c.306+4C>T rs58723456 0.02136
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
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_018896.5(CACNA1G):c.1479C>T (p.His493=) rs9897406 0.02109
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_173630.4(RTTN):c.220-12T>C rs11873759 0.02102
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_005215.4(DCC):c.91+7G>A rs112558388 0.02064
NM_018116.4(MSTO1):c.1426C>T (p.Pro476Ser) rs144717081 0.02062
NM_032608.7(MYO18B):c.507G>A (p.Lys169=) rs56195244 0.02058
NM_005557.4(KRT16):c.67G>A (p.Gly23Ser) rs7226192 0.02054
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_152743.4(BRAT1):c.924-14G>A rs113638677 0.02010
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_017775.4(TTC19):c.*226T>C rs73981412 0.01995
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) rs9917821 0.01995
NM_001037333.3(CYFIP2):c.3153C>T (p.Ala1051=) rs73307968 0.01994
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001394090.1(CFAP92):c.3281-2342G>A rs116106966 0.01973
NM_000078.3(CETP):c.-65G>A rs17231520 0.01971
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_018419.3(SOX18):c.243C>T (p.Asp81=) rs144785707 0.01962
NM_001069.3(TUBB2A):c.167-19C>T rs115862064 0.01959
NM_030667.3(PTPRO):c.508+19G>A rs138770041 0.01959
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_212482.4(FN1):c.1101T>C (p.Asn367=) rs114523318 0.01928
NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys) rs61754411 0.01921
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_018341.3(ERMARD):c.1060-12A>G rs111551747 0.01905
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val) rs35069201 0.01889
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_001366686.3(SIK3):c.3292G>A (p.Ala1098Thr) rs56247967 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001291303.3(FAT4):c.14361C>T (p.Val4787=) rs1014865 0.01862
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_182641.4(BPTF):c.5385T>C (p.Asp1795=) rs80201495 0.01848
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
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_182641.4(BPTF):c.5694G>A (p.Arg1898=) rs59088743 0.01840
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_024928.5(STN1):c.582-4G>A rs7097097 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_021831.6(AGBL5):c.2046T>A (p.Ser682=) rs34931609 0.01806
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_002591.4(PCK1):c.611-16G>A rs75308972 0.01788
NM_012310.5(KIF4A):c.2059C>T (p.Leu687=) rs10127080 0.01787
NM_018417.6(ADCY10):c.3696C>T (p.His1232=) rs61738852 0.01786
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_001024613.4(FEZF1):c.801+10A>T rs62476008 0.01777
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_007357.3(COG2):c.1765G>A (p.Val589Ile) rs34109129 0.01764
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_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=) rs1894658 0.01750
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001100913.3(PACS2):c.489C>T (p.Pro163=) rs112555824 0.01726
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
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_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 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_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
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_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_005589.4(ALDH6A1):c.349-13G>A rs45510700 0.01704
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_002074.5(GNB1):c.462C>T (p.Asp154=) rs77027087 0.01689
NM_001256071.3(RNF213):c.13590G>A (p.Ala4530=) rs61739536 0.01687
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_198578.4(LRRK2):c.6844-14_6844-13insA rs150964683 0.01681
NM_002520.7(NPM1):c.847-5T>C rs191111314 0.01680
NM_003791.4(MBTPS1):c.738G>A (p.Gly246=) rs16962810 0.01679
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
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_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
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_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000213.5(ITGB4):c.513T>C (p.Phe171=) rs148048907 0.01650
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563 0.01649
NM_024996.7(GFM1):c.-11C>T rs112860155 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_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_015726.4(DCAF8):c.822G>A (p.Lys274=) rs2275702 0.01641
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_001372.4(DNAH9):c.306T>C (p.Phe102=) rs28507962 0.01633
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
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_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_001001344.3(ATP2B3):c.407-6G>A rs139607201 0.01600
NM_002160.4(TNC):c.6006G>A (p.Leu2002=) rs61736828 0.01597
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_001291303.3(FAT4):c.8592G>A (p.Val2864=) rs111758803 0.01583
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001354483.2(CSGALNACT1):c.1418T>A (p.Phe473Tyr) rs17128366 0.01576
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) rs34370932 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_001571.6(IRF3):c.432G>C (p.Leu144=) rs74980832 0.01556
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_053025.4(MYLK):c.1516+16C>T rs77590783 0.01553
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_001256071.3(RNF213):c.10727-4A>G rs116007874 0.01549
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=) rs117913124 0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln) rs61738263 0.01534
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
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_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 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_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
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_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 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_144701.3(IL23R):c.491+17C>T rs75363634 0.01509
NM_000718.4(CACNA1B):c.5649+9C>A rs58892401 0.01502
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_032551.5(KISS1R):c.1155G>A (p.Ala385=) rs3746147 0.01495
NM_000944.5(PPP3CA):c.1156+7G>T rs79436394 0.01493
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_000944.5(PPP3CA):c.1156+15C>G rs74569968 0.01492
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=) rs4987663 0.01482
NM_025074.7(FRAS1):c.1534+19A>G rs6829493 0.01482
NM_001348484.3(RIMS2):c.2310-6T>C rs73699005 0.01478
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_020921.4(NIN):c.1728G>A (p.Pro576=) rs61755036 0.01477
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_002661.5(PLCG2):c.1558-18C>T rs113312523 0.01465
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) rs61742228 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_017841.4(SDHAF2):c.36+10G>A rs114207859 0.01460
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_022915.5(MRPL44):c.827+18C>T rs58911111 0.01453
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_001100913.3(PACS2):c.366G>A (p.Lys122=) rs61738367 0.01450
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_198334.3(GANAB):c.714G>A (p.Pro238=) rs139305180 0.01448
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_001013703.4(EIF2AK4):c.4562-12T>G rs7165452 0.01444
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_017565.4(FAM20A):c.928+16G>A rs16973042 0.01441
NM_014967.5(FAN1):c.1851C>T (p.Ser617=) rs118060760 0.01439
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=) rs74557452 0.01439
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_015355.4(SUZ12):c.274+8T>C rs201453847 0.01436
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_001124758.3(SPNS2):c.1018C>T (p.Leu340=) rs61746307 0.01432
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_006593.4(TBR1):c.1134A>G (p.Thr378=) rs79294493 0.01425
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_001012759.3(CTU2):c.282+18C>T rs147078272 0.01418
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=) rs76779558 0.01418
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309 0.01415
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu) rs362936 0.01411
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.6330+18C>T rs5745024 0.01405
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=) rs75823828 0.01398
NM_000894.3(LHB):c.233C>A (p.Thr78Asn) rs116437960 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_024824.5(ZC3H14):c.432-3T>C rs77755006 0.01392
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=) rs115133359 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_002742.3(PRKD1):c.265-5T>C rs45442100 0.01388
NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser) rs75415917 0.01385
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354 0.01383
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_198578.4(LRRK2):c.3778-9C>T rs114948984 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
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_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
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_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_001199563.2(BVES):c.708A>C (p.Thr236=) rs61995860 0.01354
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) rs45526034 0.01354
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_016474.5(CCDC174):c.1044C>A (p.Val348=) rs17040078 0.01348
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_001079866.2(BCS1L):c.1007+16G>A rs115594405 0.01345
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu) rs116659770 0.01342
NM_015386.3(COG4):c.845-18T>C rs116746214 0.01342
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_005076.5(CNTN2):c.391+12G>A rs16855012 0.01337
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_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_014003.4(DHX38):c.1386+17C>T rs117948289 0.01329
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_001171.6(ABCC6):c.474+13G>A rs111339199 0.01326
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_001303256.3(MORC2):c.699-20T>C rs78973434 0.01322
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_030665.4(RAI1):c.1894C>T (p.Leu632=) rs61736754 0.01318
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
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_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_198578.4(LRRK2):c.5509+20A>C rs11564134 0.01309
NM_015465.5(GEMIN5):c.4176A>G (p.Gln1392=) rs35194608 0.01307
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp) rs77959782 0.01304
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_004998.4(MYO1E):c.511-19A>T rs2306782 0.01292
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_001031689.3(PLAA):c.957C>T (p.His319=) rs112768524 0.01286
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=) rs55913363 0.01285
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_001128431.4(SLC39A14):c.939+8G>C rs137890800 0.01283
NM_001940.4(ATN1):c.1467G>A (p.Gln489=) rs782253884 0.01283
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_021831.6(AGBL5):c.2375G>A (p.Arg792Gln) rs61354909 0.01267
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_001861.6(COX4I1):c.228T>C (p.Asp76=) rs4885 0.01264
NM_018341.3(ERMARD):c.1014T>C (p.Asp338=) rs61747671 0.01263
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=) rs7156297 0.01255
NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=) rs7049642 0.01254
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) rs78648341 0.01238
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_001848.3(COL6A1):c.97+20G>A rs114178849 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_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys) rs34759333 0.01226
NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys) rs141003457 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_001379081.2(FREM1):c.3472-20T>C rs77508679 0.01216
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=) rs34910192 0.01216
NM_001379228.1(MRAP):c.148G>A (p.Val50Met) rs75858661 0.01215
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_002204.4(ITGA3):c.2046C>T (p.Ala682=) rs11545792 0.01213
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_001162383.2(ARHGEF2):c.2202G>T (p.Pro734=) rs77345976 0.01202
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_017947.4(MOCOS):c.15G>A (p.Ala5=) rs145568479 0.01199
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp) rs35135520 0.01198
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_004145.4(MYO9B):c.167G>A (p.Arg56Gln) rs35218876 0.01191
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_001320198.2(KRT86):c.1102T>C (p.Leu368=) rs11170087 0.01184
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_198578.4(LRRK2):c.867C>T (p.Asn289=) rs17490713 0.01182
NM_017565.4(FAM20A):c.18G>A (p.Arg6=) rs75228334 0.01179
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) rs45499398 0.01177
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_000718.4(CACNA1B):c.2581C>T (p.Pro861Ser) rs572088326 0.01176
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_015158.5(KANK1):c.624C>G (p.Ala208=) rs116178720 0.01172
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_005739.4(RASGRP1):c.1011C>T (p.Tyr337=) rs55704435 0.01170
NM_004773.4(ZNHIT3):c.21C>T (p.Ser7=) rs112194209 0.01169
NM_005739.4(RASGRP1):c.676-16G>T rs56241040 0.01169
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala) rs4253379 0.01167
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_005739.4(RASGRP1):c.429C>T (p.Asp143=) rs56366451 0.01166
NM_152743.4(BRAT1):c.*219C>A rs145828184 0.01166
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_183357.3(ADCY5):c.3064-18G>A rs56301263 0.01164
NM_032607.3(CREB3L3):c.1245G>A (p.Thr415=) rs115268777 0.01163
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_000892.5(KLKB1):c.519A>G (p.Gly173=) rs4253350 0.01158
NM_032387.5(WNK4):c.1719C>T (p.His573=) rs56243382 0.01157
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_003922.4(HERC1):c.11332-15T>C rs78341289 0.01147
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val) rs200268763 0.01145
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser) rs61740320 0.01143
NM_001278512.2(AP3B2):c.93C>T (p.Ile31=) rs200226421 0.01142
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_024642.5(GALNT12):c.1605+4G>A rs79574929 0.01136
NM_152295.5(TARS1):c.62G>A (p.Gly21Asp) rs34334786 0.01136
NM_001394062.1(MACF1):c.13641A>G (p.Glu4547=) rs6673570 0.01135
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958 0.01125
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_021913.5(AXL):c.2037-10A>C rs117941544 0.01124
NM_005861.4(STUB1):c.642T>C (p.Leu214=) rs79687861 0.01123
NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro) rs28498765 0.01123
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) rs55796712 0.01113
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_002168.4(IDH2):c.993G>A (p.Thr331=) rs61737002 0.01104
NM_017662.5(TRPM6):c.2428C>T (p.Leu810=) rs55956641 0.01104
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001349206.2(LPIN1):c.597-18T>A rs75093910 0.01098
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_030667.3(PTPRO):c.2100C>T (p.Asn700=) rs80309166 0.01095
NM_018685.5(ANLN):c.1686G>A (p.Ser562=) rs34371129 0.01094
NM_004357.5(CD151):c.-7-20C>T rs192915611 0.01093
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001164665.2(KIAA1549):c.958G>A (p.Asp320Asn) rs61978615 0.01092
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) rs35667483 0.01078
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_007363.5(NONO):c.154+11G>C rs142366840 0.01069
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=) rs143752287 0.01066
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
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_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_000537.4(REN):c.492+3A>G rs5706 0.01062
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile) rs114387880 0.01060
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_001041.4(SI):c.692C>G (p.Thr231Ser) rs79468450 0.01059
NM_001278512.2(AP3B2):c.3155+10C>T rs113056981 0.01057
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) rs73219719 0.01054
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_033028.5(BBS4):c.712-17C>G rs150754122 0.01051
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp) rs9896991 0.01047
NM_001144967.3(NEDD4L):c.2752+6C>T rs12964776 0.01046
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_001394062.1(MACF1):c.2793C>T (p.Val931=) rs74718295 0.01044
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001379451.1(BCORL1):c.4851G>A (p.Ser1617=) rs35736519 0.01042
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) rs73562944 0.01041
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_001348768.2(HECW2):c.996A>G (p.Pro332=) rs10172730 0.01037
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001963.6(EGF):c.1380A>G (p.Glu460=) rs11568953 0.01036
NM_015021.3(ZNF292):c.1227G>A (p.Leu409=) rs75154406 0.01036
NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser) rs146886270 0.01035
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_021008.4(DEAF1):c.774C>T (p.Tyr258=) rs117691319 0.01031
NM_001025389.2(AMPD3):c.1131C>T (p.His377=) rs76407515 0.01030
NM_203395.3(IYD):c.323A>G (p.Asn108Ser) rs111758467 0.01029
NM_001378452.1(ITPR1):c.1554+17G>A rs80123990 0.01028
NM_018685.5(ANLN):c.2971-12T>G rs6954957 0.01028
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) rs61744966 0.01027
NM_001394062.1(MACF1):c.2307G>C (p.Leu769=) rs116026083 0.01027
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) rs1045458 0.01026
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser) rs75286033 0.01024
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr) rs34822755 0.01019
NM_017838.4(NHP2):c.351C>T (p.Ala117=) rs115334254 0.01019
NM_212482.4(FN1):c.1425G>C (p.Gly475=) rs59884263 0.01019
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_014491.4(FOXP2):c.570A>G (p.Gln190=) rs61758964 0.01012
NM_001318789.2(TLR2):c.1626C>G (p.Leu542=) rs5743701 0.01010
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=) rs369962641 0.01009
NM_001365276.2(TNXB):c.10607-19C>A rs773540524 0.01008
NM_017612.5(ZCCHC8):c.1345+5G>A rs116783031 0.01008
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_053025.4(MYLK):c.*945G>A rs112095273 0.01003
NM_003483.6(HMGA2):c.199-8A>G rs55674630 0.01002
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_003791.4(MBTPS1):c.17T>C (p.Ile6Thr) rs34701895 0.00995
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_022042.4(SLC26A1):c.1713C>G (p.Ala571=) rs36069160 0.00995
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_002520.7(NPM1):c.543T>C (p.Phe181=) rs61755048 0.00991
NM_172362.3(KCNH1):c.2448G>A (p.Ala816=) rs112047226 0.00991
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser) rs117444825 0.00990
NM_020843.4(SCAPER):c.95G>A (p.Ser32Asn) rs114705075 0.00987
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_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=) rs35416748 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00981
NM_000444.6(PHEX):c.288A>G (p.Glu96=) rs112836831 0.00980
NM_017947.4(MOCOS):c.2599G>A (p.Val867Met) rs79823152 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_002340.6(LSS):c.752C>T (p.Ala251Val) rs61735801 0.00978
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=) rs61751499 0.00977
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) rs116833881 0.00976
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_016213.5(TRIP4):c.981C>T (p.Thr327=) rs115922345 0.00975
NM_000278.5(PAX2):c.792+9G>A rs79552202 0.00974
NM_182758.4(WDR72):c.857+9A>C rs139139066 0.00974
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_006346.4(PIBF1):c.1567C>A (p.His523Asn) rs115858628 0.00971
NM_001330078.2(NRXN1):c.3365-110075G>A rs189873392 0.00970
NM_032856.5(WDR73):c.336G>A (p.Gln112=) rs73449331 0.00970
NM_024876.4(COQ8B):c.*10T>C rs61742811 0.00969
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
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_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406 0.00958
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) rs61740339 0.00958
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser) rs79141749 0.00956
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) rs61744200 0.00956
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_002427.4(MMP13):c.1080T>C (p.Tyr360=) rs61737008 0.00951
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) rs140275032 0.00951
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_018474.6(KIZ):c.1809C>T (p.Phe603=) rs34011504 0.00950
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_006267.5(RANBP2):c.1632-16T>C rs147266881 0.00948
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_006059.4(LAMC3):c.2096G>A (p.Gly699Asp) rs61737720 0.00943
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_001042681.2(RERE):c.879+20C>T rs77037803 0.00942
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_145038.5(DRC1):c.36G>C (p.Pro12=) rs116549039 0.00942
NM_004859.4(CLTC):c.2797-9C>T rs148657971 0.00940
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_017947.4(MOCOS):c.1465C>T (p.Arg489Cys) rs35980997 0.00937
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_002661.5(PLCG2):c.3482-3C>T rs74856898 0.00935
NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val) rs55953014 0.00935
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro) rs142588591 0.00932
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_006513.4(SARS1):c.1160G>A (p.Gly387Glu) rs140717526 0.00927
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_002661.5(PLCG2):c.3726C>A (p.Leu1242=) rs76506409 0.00926
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_006513.4(SARS1):c.1387+8T>C rs74854256 0.00920
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001372044.2(SHANK3):c.1113-8C>T rs9628236 0.00917
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_002181.4(IHH):c.819C>T (p.Pro273=) rs61747697 0.00915
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) rs116240595 0.00915
NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=) rs61746800 0.00913
NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=) rs111630604 0.00913
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_198334.3(GANAB):c.380+15A>G rs146098557 0.00910
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_015331.3(NCSTN):c.1101+13T>C rs41266885 0.00907
NM_021939.4(FKBP10):c.1256+14G>C rs202121419 0.00906
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_032578.4(MYPN):c.-2+9C>T rs75716608 0.00900
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_145068.4(TRPV3):c.224+8C>T rs113563330 0.00898
NM_001191057.4(PDE1C):c.525C>T (p.Ser175=) rs76290787 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_012062.5(DNM1L):c.741-19G>A rs79520527 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_001163435.3(TBCK):c.1898-20G>T rs45462491 0.00895
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 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_032856.5(WDR73):c.41+262G>A rs147776100 0.00888
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_198075.4(LRRC56):c.655G>A (p.Val219Met) rs138291757 0.00885
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=) rs74032923 0.00884
NM_004100.5(EYA4):c.*2799C>A rs143596676 0.00882
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_000065.5(C6):c.1189A>G (p.Lys397Glu) rs6896011 0.00878
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln) rs149502087 0.00876
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile) rs35530360 0.00874
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_015158.5(KANK1):c.3245+12T>C rs187592077 0.00871
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_003060.4(SLC22A5):c.-319C>A rs60978556 0.00870
NM_207111.4(RNF216):c.149C>G (p.Ala50Gly) rs115737075 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala) rs147125035 0.00868
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=) rs35019459 0.00865
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_000901.5(NR3C2):c.2139T>C (p.Pro713=) rs151096115 0.00862
NM_012262.4(HS2ST1):c.364-8C>T rs191652191 0.00861
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys) rs77585543 0.00860
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00860
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_001354483.2(CSGALNACT1):c.409G>A (p.Val137Ile) rs17128518 0.00857
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_145207.3(AFG2A):c.1785G>T (p.Val595=) rs62324113 0.00855
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_198252.3(GSN):c.513+19T>C rs79969850 0.00853
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_153212.3(GJB4):c.238C>T (p.Gln80Ter) rs114429815 0.00851
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_003620.4(PPM1D):c.1149A>C (p.Gly383=) rs111239559 0.00849
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768 0.00849
NM_003356.4(UCP3):c.127-7C>T rs77012485 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_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_005573.4(LMNB1):c.360-19C>T rs74640805 0.00844
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_017909.4(RMND1):c.783C>T (p.Ile261=) rs17081207 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_001039570.3(KREMEN1):c.97+12C>T rs534421912 0.00840
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_018194.6(HHAT):c.997G>A (p.Gly333Arg) rs61744143 0.00834
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_018117.12(WDR11):c.2991A>G (p.Thr997=) rs114808011 0.00831
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr) rs117646559 0.00829
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_002168.4(IDH2):c.429G>C (p.Leu143=) rs144712130 0.00824
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=) rs55832508 0.00818
NM_032380.5(GFM2):c.43A>G (p.Ile15Val) rs79992455 0.00818
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=) rs73710962 0.00818
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) rs9332843 0.00817
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_018417.6(ADCY10):c.1021-11C>T rs146573590 0.00816
NM_052867.4(NALCN):c.2859C>T (p.Phe953=) rs34033086 0.00816
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
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_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_017763.6(RNF43):c.1585C>T (p.Arg529Trp) rs62636625 0.00813
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln) rs34015754 0.00811
NM_198576.4(AGRN):c.738C>T (p.Asp246=) rs536085218 0.00811
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
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_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00803
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer) rs140308852 0.00802
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=) rs115871350 0.00801
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=) rs369366346 0.00796
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
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_006303.4(AIMP2):c.462G>T (p.Thr154=) rs61735883 0.00791
NM_015213.4(DENND5A):c.36C>T (p.Pro12=) rs76048646 0.00791
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=) rs111576400 0.00790
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871 0.00788
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_032415.7(CARD11):c.1923G>A (p.Arg641=) rs41405944 0.00786
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) rs9332840 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_001385012.1(NBEA):c.5985G>A (p.Glu1995=) rs151318906 0.00782
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_005491.5(MAMLD1):c.2284+8A>T rs5970317 0.00781
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_022463.5(NXN):c.1000+13C>T rs188195924 0.00781
NM_006922.4(SCN3A):c.4432-14T>C rs73969177 0.00780
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_015629.4(PRPF31):c.420+7G>A rs143717956 0.00780
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_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_001372.4(DNAH9):c.6259A>G (p.Met2087Val) rs9892290 0.00777
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
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_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_001111125.3(IQSEC2):c.737+10291G>A rs189694247 0.00773
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) rs139633564 0.00773
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_018417.6(ADCY10):c.4377C>T (p.Tyr1459=) rs61745244 0.00772
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile) rs143181834 0.00771
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) rs149219011 0.00766
NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val) rs17368018 0.00766
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_198428.3(BBS9):c.2220G>A (p.Leu740=) rs115809567 0.00765
NM_000078.3(CETP):c.460C>T (p.Arg154Trp) rs34716057 0.00764
NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp) rs76414987 0.00763
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_153460.4(IL17RC):c.1522+1G>C rs148575246 0.00763
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_018417.6(ADCY10):c.4752T>C (p.Ile1584=) rs59725214 0.00762
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln) rs61746625 0.00759
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_001286611.2(REPS1):c.1789C>T (p.Pro597Ser) rs142256155 0.00757
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_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_000065.5(C6):c.2087A>G (p.Asp696Gly) rs41271067 0.00752
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 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_006031.6(PCNT):c.8065-19G>A rs78561636 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_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr) rs117656447 0.00747
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=) rs61729356 0.00746
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_173630.4(RTTN):c.5745+13G>T rs144392822 0.00745
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_002900.3(RBP3):c.1503C>T (p.Ala501=) rs34700898 0.00743
NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val) rs9333241 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=) rs148945365 0.00741
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_001256071.3(RNF213):c.10443G>A (p.Ala3481=) rs116677277 0.00739
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys) rs28549882 0.00739
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_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_006059.4(LAMC3):c.3371C>T (p.Ser1124Phe) rs113259170 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_022463.5(NXN):c.543C>T (p.Asn181=) rs113173467 0.00737
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_001365480.1(CCDC88A):c.403-7A>G rs41281505 0.00736
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
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_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_005157.6(ABL1):c.1899C>T (p.Ala633=) rs2229068 0.00732
NM_017831.4(RNF125):c.489G>A (p.Ser163=) rs79205763 0.00732
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_012479.4(YWHAG):c.726C>T (p.Gly242=) rs73703133 0.00731
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=) rs115182478 0.00729
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_003500.4(ACOX2):c.475+18C>T rs138268845 0.00726
NM_182476.3(COQ6):c.1184C>T (p.Thr395Met) rs34746680 0.00726
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) rs34029982 0.00725
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr) rs77037561 0.00722
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_018417.6(ADCY10):c.3720T>C (p.Asn1240=) rs61738760 0.00721
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001080442.3(SLC38A8):c.190-8C>T rs1876961 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_032861.4(SERAC1):c.1684+168T>C rs141960153 0.00719
NM_032861.4(SERAC1):c.1684+209T>C rs148162521 0.00718
NM_001080512.3(BICC1):c.846T>C (p.Ala282=) rs145237525 0.00717
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_001145358.2(SIN3A):c.3466A>T (p.Met1156Leu) rs60213317 0.00716
NM_001282933.2(ZNF341):c.340-20C>G rs142373708 0.00712
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu) rs74632023 0.00712
NM_033343.4(LHX4):c.384C>T (p.Asp128=) rs141139762 0.00712
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_017947.4(MOCOS):c.981G>A (p.Ala327=) rs35497696 0.00711
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_145020.5(CFAP53):c.305G>A (p.Arg102His) rs76722120 0.00711
NM_144639.3(UROC1):c.132G>A (p.Ala44=) rs146351941 0.00710
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_001356.5(DDX3X):c.104-10A>T rs112766093 0.00708
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe) rs114930262 0.00704
NM_021224.6(ZNF462):c.5984A>G (p.Asn1995Ser) rs74505324 0.00704
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_000345.4(SNCA):c.*139T>G rs10024743 0.00703
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_001105247.2(ARMC5):c.729C>T (p.Ala243=) rs114871627 0.00700
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_018027.5(FRMD4A):c.705G>A (p.Leu235=) rs61755072 0.00698
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_198576.4(AGRN):c.1603+19G>A rs115191992 0.00697
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00696
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser) rs141808660 0.00693
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln) rs73935066 0.00693
NM_212482.4(FN1):c.3189C>T (p.Thr1063=) rs78262627 0.00693
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr) rs142867241 0.00691
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_170665.4(ATP2A2):c.1096-16C>T rs56253731 0.00688
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) rs139042772 0.00687
NM_000483.5(APOC2):c.-2C>T rs5121 0.00686
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met) rs116604393 0.00685
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=) rs28523576 0.00683
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001197104.2(KMT2A):c.4218+20A>G rs9332798 0.00681
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000789.4(ACE):c.656-9C>T rs12720734 0.00679
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_020117.11(LARS1):c.2212+13T>C rs114726414 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=) rs35264155 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=) rs35008125 0.00674
NM_017570.5(OPLAH):c.3720+8C>T rs374770909 0.00674
NM_001385012.1(NBEA):c.5081G>A (p.Ser1694Asn) rs73505630 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_017827.4(SARS2):c.273G>A (p.Ser91=) rs144229840 0.00672
NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val) rs138694505 0.00671
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_024996.7(GFM1):c.2071-17A>G rs76679758 0.00671
NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=) rs16860616 0.00670
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=) rs34599583 0.00669
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) rs35466065 0.00669
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr) rs61737267 0.00665
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_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) rs149142910 0.00664
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
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_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_004327.4(BCR):c.606C>T (p.Ser202=) rs147507158 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) rs145704340 0.00654
NM_018489.3(ASH1L):c.2330G>A (p.Arg777His) rs74353643 0.00654
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_138348.6(OTULIN):c.230-15T>A rs201861710 0.00653
NM_152743.4(BRAT1):c.993G>A (p.Thr331=) rs76646873 0.00653
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_004044.7(ATIC):c.1494C>G (p.Thr498=) rs116255553 0.00651
NM_001013838.3(CARMIL2):c.3221+20T>C rs56088143 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_198075.4(LRRC56):c.544C>A (p.Gln182Lys) rs61736743 0.00647
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=) rs58376508 0.00645
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001170535.3(ATAD3A):c.1215-6T>C rs112869160 0.00644
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
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_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_004998.4(MYO1E):c.1617-12C>G rs192317472 0.00636
NM_175875.5(SIX5):c.375G>C (p.Pro125=) rs147268086 0.00636
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_003060.4(SLC22A5):c.*959A>C rs14701 0.00632
NM_022662.4(ANAPC1):c.681T>C (p.Ser227=) rs145229082 0.00632
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000651.6(CR1):c.5811-11C>A rs115988205 0.00628
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692 0.00627
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 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_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_014243.3(ADAMTS3):c.661+7G>A rs72852050 0.00624
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=) rs147497968 0.00623
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_015690.5(STK36):c.2518T>G (p.Leu840Val) rs36099639 0.00622
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
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_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_006180.6(NTRK2):c.2113C>T (p.Leu705=) rs75380746 0.00617
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) rs149207118 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg) rs144541220 0.00614
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=) rs6674962 0.00613
NM_001379451.1(BCORL1):c.516T>C (p.Asn172=) rs36043572 0.00612
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_138501.6(TECR):c.16-15G>A rs113855270 0.00612
NM_197947.3(CLEC7A):c.397C>T (p.Leu133=) rs144190589 0.00612
NM_004371.4(COPA):c.1076+13T>A rs149521115 0.00611
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_017662.5(TRPM6):c.4569A>T (p.Thr1523=) rs150409948 0.00610
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 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_019613.4(WDR45B):c.942C>T (p.Asp314=) rs147083174 0.00609
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00608
NM_001017974.2(P4HA2):c.226G>T (p.Ala76Ser) rs61739875 0.00608
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser) rs7145583 0.00602
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=) rs191011620 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 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_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_014855.3(AP5Z1):c.791-5C>T rs73671921 0.00595
NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=) rs190197045 0.00595
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_025129.5(FUZ):c.405C>T (p.Ile135=) rs35499921 0.00594
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_012473.4(TXN2):c.294G>A (p.Pro98=) rs150502647 0.00588
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_004268.5(MED17):c.251-8C>T rs148912294 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_005994.4(TBX2):c.1212G>A (p.Arg404=) rs140610908 0.00582
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_000210.4(ITGA6):c.986+14A>C rs138182078 0.00578
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_004268.5(MED17):c.1500G>A (p.Glu500=) rs76149470 0.00578
NM_000743.5(CHRNA3):c.564T>C (p.Asp188=) rs8192480 0.00577
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_152641.4(ARID2):c.339A>C (p.Val113=) rs73292513 0.00577
NM_001261428.3(LPIN1):c.45G>A (p.Ser15=) rs145228255 0.00576
NM_153766.3(KCNJ1):c.252G>A (p.Ala84=) rs149563706 0.00576
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001395656.1(ROBO2):c.1861+8C>G rs144780438 0.00575
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 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_004483.5(GCSH):c.292+9T>G rs8177909 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_001144967.3(NEDD4L):c.2753-4C>T rs116251315 0.00571
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_019026.6(TMCO1):c.256-12G>A rs145104339 0.00570
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_015278.5(SASH1):c.3266G>A (p.Arg1089Gln) rs75149315 0.00569
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val) rs78892546 0.00566
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_001195248.2(APTX):c.-5+16G>T rs145658621 0.00564
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_022370.4(ROBO3):c.1189C>A (p.Pro397Thr) rs114572753 0.00563
NM_005862.3(STAG1):c.1402C>T (p.Leu468=) rs34807246 0.00562
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_144639.3(UROC1):c.562C>T (p.Arg188Trp) rs34488036 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001277062.2(MFF):c.630C>A (p.Ala210=) rs140009845 0.00556
NM_002336.3(LRP6):c.2382C>T (p.Asn794=) rs74774620 0.00556
NM_005215.4(DCC):c.1062C>T (p.Val354=) rs141716650 0.00555
NM_015047.3(EMC1):c.2886C>T (p.Tyr962=) rs34350799 0.00555
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln) rs118086587 0.00554
NM_030667.3(PTPRO):c.2841G>A (p.Leu947=) rs61754412 0.00554
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_002336.3(LRP6):c.3192A>G (p.Val1064=) rs114714311 0.00552
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_133259.4(LRPPRC):c.1736-14G>A rs116117684 0.00552
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=) rs879175668 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) rs76436141 0.00548
NM_000085.5(CLCNKB):c.782-18A>G rs201540366 0.00547
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_015100.4(POGZ):c.357A>G (p.Thr119=) rs145173739 0.00547
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_004044.7(ATIC):c.380-18G>A rs190975135 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_018417.6(ADCY10):c.4075C>T (p.Leu1359=) rs73039538 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00542
NM_024652.6(LRRK1):c.5387C>A (p.Pro1796His) rs34876840 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_181776.3(SLC36A2):c.273G>A (p.Leu91=) rs35403441 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_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00540
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_000065.5(C6):c.542C>T (p.Thr181Ile) rs114609505 0.00539
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531 0.00539
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_198428.3(BBS9):c.1110C>T (p.Asn370=) rs61753524 0.00539
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_005879.3(TRAIP):c.303G>A (p.Gln101=) rs145932323 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_001267727.2(ARSG):c.1092-5C>T rs111385660 0.00536
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) rs143855418 0.00536
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr) rs115891071 0.00535
NM_003502.4(AXIN1):c.2403G>A (p.Arg801=) rs113073289 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu) rs185695096 0.00534
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=) rs71584868 0.00534
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_005215.4(DCC):c.2053+9T>C rs186819956 0.00534
NM_182914.3(SYNE2):c.888+17A>G rs141247973 0.00534
NM_024721.5(ZFHX4):c.5327A>G (p.Glu1776Gly) rs139920573 0.00533
NM_198075.4(LRRC56):c.35G>A (p.Arg12Gln) rs2277269 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_021926.4(ALX4):c.69G>C (p.Pro23=) rs115968657 0.00532
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
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_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_001735.3(C5):c.3098T>C (p.Ile1033Thr) rs41311881 0.00529
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln) rs140846842 0.00528
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) rs61757649 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln) rs193280665 0.00527
NM_006440.5(TXNRD2):c.375-19T>G rs147120537 0.00527
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=) rs150228036 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 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_006440.5(TXNRD2):c.529-6C>T rs116054286 0.00525
NM_000642.3(AGL):c.*2060T>C rs191429370 0.00522
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_000526.5(KRT14):c.166C>T (p.Arg56Cys) rs117484558 0.00519
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_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_015690.5(STK36):c.3540C>T (p.Ala1180=) rs2241528 0.00518
NM_022124.6(CDH23):c.1449+76C>A rs41281304 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_138348.6(OTULIN):c.996C>G (p.Leu332=) rs36111454 0.00517
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_004618.5(TOP3A):c.180+10C>G rs17805992 0.00515
NM_015141.4(GPD1L):c.81T>C (p.Asn27=) rs34278284 0.00515
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_001164665.2(KIAA1549):c.4930-14A>G rs80130913 0.00514
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=) rs77473623 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 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_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_052867.4(NALCN):c.2241C>T (p.Pro747=) rs79264337 0.00512
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=) rs35406346 0.00511
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_014639.4(SKIC3):c.585G>A (p.Lys195=) rs73147944 0.00510
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=) rs116473422 0.00510
NM_000210.4(ITGA6):c.*58T>C rs150113724 0.00509
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=) rs57112868 0.00508
NM_000216.4(ANOS1):c.255+4C>T rs141696314 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=) rs60720455 0.00507
NM_021828.5(HPSE2):c.1194T>C (p.Ala398=) rs111762231 0.00507
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_001231.5(CASQ1):c.364+9G>T rs115023646 0.00505
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile) rs145610810 0.00504
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 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_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_022916.6(VPS33A):c.282T>C (p.Ala94=) rs76521771 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_003477.3(PDHX):c.160+15C>G rs187304189 0.00501
NM_004172.5(SLC1A3):c.342G>A (p.Lys114=) rs34809305 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_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=) rs149476145 0.00500
NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys) rs61730241 0.00500
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) rs147585323 0.00500
NM_001046.3(SLC12A2):c.524G>C (p.Gly175Ala) rs149585221 0.00499
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001606.5(ABCA2):c.4003+7G>A rs200425176 0.00498
NM_004646.4(NPHS1):c.1440+19C>T rs113470432 0.00498
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_001206641.3(COA6):c.212+162G>A rs113627094 0.00491
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=) rs74627110 0.00490
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_005472.5(KCNE3):c.-244G>A rs114110954 0.00488
NM_005472.5(KCNE3):c.-245A>G rs115848768 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) rs58764017 0.00488
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) rs12073994 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_001001563.5(TIMM50):c.598-15C>T rs45611439 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His) rs61733583 0.00485
NM_007262.5(PARK7):c.*124C>T rs147437667 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
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_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=) rs60094861 0.00477
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) rs148874494 0.00475
NM_003620.4(PPM1D):c.456C>T (p.Ala152=) rs149400522 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_017696.3(MCM9):c.1272G>A (p.Arg424=) rs151149424 0.00474
NM_138295.5(PKD1L1):c.4040G>A (p.Arg1347Gln) rs79519739 0.00474
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=) rs114718315 0.00474
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822 0.00472
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_001005242.3(PKP2):c.*202C>T rs77988382 0.00472
NM_012120.3(CD2AP):c.42T>C (p.His14=) rs34773184 0.00472
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001220.5(CAMK2B):c.51C>T (p.Tyr17=) rs150540739 0.00471
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=) rs34023453 0.00471
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=) rs200559863 0.00470
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_005555.4(KRT6B):c.1186G>A (p.Asp396Asn) rs138988810 0.00470
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu) rs35046964 0.00470
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_000250.2(MPO):c.2187C>T (p.Asn729=) rs113203253 0.00469
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=) rs60615103 0.00469
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_173648.4(CCDC141):c.1521A>C (p.Gln507His) rs114129666 0.00468
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
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_001372.4(DNAH9):c.11284-20A>G rs113483879 0.00465
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_004766.3(COPB2):c.342T>C (p.Ile114=) rs74860267 0.00465
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr) rs142328376 0.00463
NM_004218.4(RAB11B):c.357C>A (p.Ile119=) rs34741553 0.00463
NM_001134382.3(IQSEC1):c.1428G>A (p.Ser476=) rs3732685 0.00462
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_080424.4(SP110):c.1647C>T (p.Cys549=) rs116626378 0.00462
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_033028.5(BBS4):c.1106+20T>C rs145968663 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_004525.3(LRP2):c.79+7G>A rs376136995 0.00460
NM_016035.5(COQ4):c.-20C>G rs372363685 0.00460
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_004958.4(MTOR):c.2649+9C>T rs144243347 0.00459
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00459
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_001144869.3(LIPT2):c.690C>T (p.Pro230=) rs147957229 0.00457
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_015404.4(WHRN):c.1166+18G>A rs149202009 0.00456
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_020223.4(FAM20C):c.1505+20C>T rs145973343 0.00455
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_000789.4(ACE):c.2979C>T (p.Ile993=) rs75067113 0.00452
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) rs61750221 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_020812.4(DOCK6):c.885C>T (p.Asn295=) rs146599144 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) rs114601558 0.00448
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_024514.5(CYP2R1):c.368-12A>T rs189127299 0.00447
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_007317.3(KIF22):c.1145-6A>G rs138675020 0.00445
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) rs7222276 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp) rs61751747 0.00444
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_005544.3(IRS1):c.2358T>C (p.His786=) rs137866175 0.00443
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_001330360.2(POLA1):c.1687-15C>T rs11573348 0.00442
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp) rs61757219 0.00440
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_207037.2(TCF12):c.1950C>T (p.Val650=) rs77034126 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_032387.5(WNK4):c.945C>T (p.Gly315=) rs61754348 0.00439
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) rs17175350 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_173560.4(RFX6):c.2398+17G>T rs142448060 0.00437
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001256071.3(RNF213):c.1110A>G (p.Ala370=) rs141921176 0.00436
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) rs150136669 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val) rs148829093 0.00434
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00434
NM_138295.5(PKD1L1):c.2969G>A (p.Arg990Gln) rs141646493 0.00434
NM_001220.5(CAMK2B):c.651G>A (p.Glu217=) rs56291919 0.00433
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg) rs151133441 0.00433
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_005506.4(SCARB2):c.1239+14C>T rs143699909 0.00432
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_000860.6(HPGD):c.422-20G>A rs28510609 0.00431
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) rs74942536 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001447.3(FAT2):c.829G>C (p.Val277Leu) rs145834206 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_004044.7(ATIC):c.5C>T (p.Ala2Val) rs138988481 0.00428
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_014712.3(SETD1A):c.726C>T (p.Pro242=) rs61744415 0.00428
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_005909.5(MAP1B):c.4902C>T (p.Pro1634=) rs34984533 0.00426
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln) rs2066532 0.00425
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu) rs201156596 0.00425
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_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000257.4(MYH7):c.3972+16G>A rs114978322 0.00424
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
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_021738.3(SVIL):c.4241G>C (p.Ser1414Thr) rs144661370 0.00423
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_173689.7(CRB2):c.2748C>T (p.Ala916=) rs372726074 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00421
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_030761.5(WNT4):c.483C>T (p.Tyr161=) rs149600184 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_003098.3(SNTA1):c.701+10G>A rs6057846 0.00419
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_001009944.3(PKD1):c.7065+21G>A rs9930234 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=) rs142372284 0.00416
NM_032608.7(MYO18B):c.4314+10T>A rs145106992 0.00416
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_001242882.2(NAXD):c.840-58C>T rs77771278 0.00414
NM_001572.5(IRF7):c.660G>A (p.Leu220=) rs76107421 0.00414
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His) rs149588226 0.00414
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 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_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) rs45438803 0.00412
NM_017827.4(SARS2):c.364-14C>T rs150151686 0.00412
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala) rs151319642 0.00412
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00411
NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=) rs115552583 0.00411
NM_015599.3(PGM3):c.33A>G (p.Ala11=) rs150763574 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_134261.3(RORA):c.987A>G (p.Glu329=) rs141640548 0.00411
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) rs34911725 0.00408
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_033026.6(PCLO):c.10146T>G (p.Thr3382=) rs111241048 0.00406
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=) rs2230530 0.00405
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_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_021975.4(RELA):c.871G>A (p.Asp291Asn) rs61759893 0.00402
NM_032790.4(ORAI1):c.132A>G (p.Pro44=) rs554617167 0.00402
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_002361.4(MAG):c.1716+18G>C rs10419210 0.00401
NM_015267.4(CUX2):c.2643G>A (p.Pro881=) rs200061368 0.00401
NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys) rs115221221 0.00401
NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg) rs149004801 0.00401
NM_177433.3(MAGED2):c.816A>G (p.Pro272=) rs111542041 0.00401
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_002133.3(HMOX1):c.378C>T (p.Pro126=) rs73885946 0.00399
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln) rs149431491 0.00399
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901 0.00399
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala) rs115316501 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_144670.6(A2ML1):c.*1+12G>A rs115808815 0.00398
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) rs77710864 0.00397
NM_015122.3(FCHO1):c.489+20G>A rs116103463 0.00397
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001080512.3(BICC1):c.2047C>T (p.Leu683=) rs150269030 0.00396
NM_001134382.3(IQSEC1):c.2602G>A (p.Val868Ile) rs17541405 0.00396
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_020987.5(ANK3):c.3984G>A (p.Leu1328=) rs149052618 0.00393
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425 0.00392
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001270.4(CHD1):c.1371A>G (p.Leu457=) rs116648225 0.00391
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
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_004055.5(CAPN5):c.1894C>A (p.Leu632Ile) rs111264315 0.00390
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) rs113793810 0.00389
NM_006389.5(HYOU1):c.2031C>T (p.Val677=) rs45450894 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=) rs114088252 0.00386
NM_005035.4(POLRMT):c.178G>A (p.Val60Met) rs139758373 0.00386
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser) rs149983875 0.00383
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_005157.6(ABL1):c.249T>G (p.Thr83=) rs111886835 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_001873.4(CPE):c.1422A>G (p.Leu474=) rs112824368 0.00381
NM_003361.4(UMOD):c.1740+18C>T rs113452476 0.00381
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg) rs78672252 0.00380
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_000548.5(TSC2):c.1443+18C>T rs375947241 0.00379
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001375905.1(SGMS2):c.171G>A (p.Pro57=) rs150784082 0.00379
NM_018417.6(ADCY10):c.1020+20T>A rs79093040 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_201384.3(PLEC):c.4044+16C>T rs182039608 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_003361.4(UMOD):c.1353C>G (p.Gly451=) rs111904030 0.00378
NM_014669.5(NUP93):c.179+9T>G rs189526861 0.00378
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=) rs141331809 0.00377
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001379500.1(COL18A1):c.2032-9T>A rs144913625 0.00375
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys) rs35996030 0.00375
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_000237.3(LPL):c.1018+34A>G rs190249506 0.00372
NM_001134707.2(SARDH):c.1299G>A (p.Pro433=) rs147188337 0.00372
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00372
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg) rs35332705 0.00371
NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=) rs200660585 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_198428.3(BBS9):c.390T>C (p.Asn130=) rs78283245 0.00370
NM_000313.4(PROS1):c.*693G>A rs189450409 0.00369
NM_001012759.3(CTU2):c.69-19C>T rs185353598 0.00369
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) rs114114032 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
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_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 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_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_006180.6(NTRK2):c.288-15T>C rs79043758 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_000810.4(GABRA5):c.585G>A (p.Ala195=) rs149156018 0.00364
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) rs9911283 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_005857.5(ZMPSTE24):c.954+3G>A rs112612481 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_014975.3(MAST1):c.1530C>T (p.His510=) rs35952311 0.00362
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00362
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004357.5(CD151):c.703-18A>G rs35465458 0.00361
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_014862.4(ARNT2):c.2007C>T (p.Ser669=) rs61753570 0.00360
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235 0.00359
NM_006565.4(CTCF):c.1702-10T>C rs151017109 0.00359
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg) rs111929795 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_033343.4(LHX4):c.690C>T (p.Ser230=) rs111822893 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=) rs192024023 0.00357
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_006612.6(KIF1C):c.183+17G>C rs113047933 0.00357
NM_007186.6(CEP250):c.2391C>T (p.Val797=) rs111853969 0.00357
NM_000255.4(MMUT):c.1083+20T>C rs200148994 0.00356
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_004279.3(PMPCB):c.935G>A (p.Cys312Tyr) rs1057797 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu) rs202231187 0.00354
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) rs61729273 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 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_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=) rs4899491 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_006734.4(HIVEP2):c.4293C>T (p.Ser1431=) rs34191067 0.00353
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00353
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys) rs35779668 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_004366.6(CLCN2):c.2415+9A>G rs192449317 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=) rs56403513 0.00350
NM_006389.5(HYOU1):c.2888-13C>G rs115207968 0.00350
NM_006929.5(SKIC2):c.2574G>A (p.Val858=) rs139281450 0.00350
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001735.3(C5):c.3033G>C (p.Glu1011Asp) rs150096192 0.00349
NM_004370.6(COL12A1):c.4000+5G>A rs181257320 0.00349
NM_017662.5(TRPM6):c.5550A>G (p.Gln1850=) rs35618857 0.00349
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser) rs28938777 0.00348
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_001321967.2(ATAD1):c.657C>G (p.Leu219=) rs116195084 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=) rs34772799 0.00346
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=) rs35252724 0.00346
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala) rs113884104 0.00344
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) rs79407194 0.00344
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=) rs143055101 0.00343
NM_147191.1(MMP21):c.697+10C>G rs28381286 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_001042681.2(RERE):c.1524C>T (p.Arg508=) rs139299521 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_015047.3(EMC1):c.787-13T>C rs143475773 0.00342
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=) rs113566464 0.00342
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_174934.4(SCN4B):c.639C>T (p.Asn213=) rs72544155 0.00341
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln) rs116363417 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_022773.4(LMF1):c.384G>C (p.Leu128Phe) rs115313199 0.00337
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000562.3(C8A):c.1331G>A (p.Arg444His) rs143908758 0.00334
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=) rs145459485 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_001386298.1(CIC):c.3933A>G (p.Ala1311=) rs112950169 0.00333
NM_001320752.2(STS):c.383-16C>T rs56055086 0.00332
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_020812.4(DOCK6):c.1833-19C>G rs188183013 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=) rs150638179 0.00332
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) rs34984796 0.00332
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=) rs138478973 0.00331
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_006267.5(RANBP2):c.-41G>T rs372373398 0.00331
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=) rs114204931 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_005515.4(MNX1):c.234G>A (p.Pro78=) rs867731047 0.00330
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_020812.4(DOCK6):c.1289G>A (p.Arg430His) rs143655255 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138 0.00329
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
NM_001287491.2(TET3):c.2805C>T (p.Leu935=) rs115293949 0.00329
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_057176.3(BSND):c.459C>T (p.Asp153=) rs138974602 0.00328
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp) rs191501191 0.00327
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_005515.4(MNX1):c.372T>C (p.Ala124=) rs867470183 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_020401.4(NUP107):c.353G>A (p.Arg118His) rs34347775 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) rs72827640 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=) rs117483481 0.00323
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_001136191.3(KANK2):c.10G>A (p.Val4Ile) rs139512726 0.00321
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile) rs139554429 0.00321
NM_197968.4(ZMYM2):c.454G>C (p.Asp152His) rs35516773 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059 0.00319
NM_002144.4(HOXB1):c.283C>A (p.Pro95Thr) rs150583509 0.00319
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) rs34448374 0.00319
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_001037333.3(CYFIP2):c.3336G>A (p.Pro1112=) rs114967929 0.00318
NM_002900.3(RBP3):c.1296G>A (p.Val432=) rs147336433 0.00318
NM_000029.4(AGT):c.410C>T (p.Thr137Met) rs34829218 0.00316
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=) rs143353908 0.00316
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala) rs80161424 0.00314
NM_013435.3(RAX):c.-94G>A rs570401263 0.00314
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000875.5(IGF1R):c.225C>T (p.Phe75=) rs55770488 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_003647.3(DGKE):c.798T>A (p.Leu266=) rs61751970 0.00312
NM_175875.5(SIX5):c.1963C>T (p.Leu655=) rs151072042 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_000070.3(CAPN3):c.-131G>T rs113881834 0.00309
NM_000104.4(CYP1B1):c.-2G>A rs9341245 0.00309
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_005157.6(ABL1):c.822+16C>G rs12551730 0.00309
NM_017947.4(MOCOS):c.142+20T>C rs373431975 0.00309
NM_017947.4(MOCOS):c.1539A>G (p.Ala513=) rs76486529 0.00309
NM_020312.4(COQ9):c.379-16G>C rs62037144 0.00309
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp) rs72657303 0.00308
NM_005633.4(SOS1):c.*1303C>A rs115153488 0.00308
NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=) rs149847490 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002661.5(PLCG2):c.2355C>T (p.Ser785=) rs185307548 0.00307
NM_022454.4(SOX17):c.1206C>G (p.Ala402=) rs147091895 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_002354.3(EPCAM):c.491+19A>T rs114475602 0.00306
NM_004525.3(LRP2):c.2456G>A (p.Arg819His) rs142080405 0.00306
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_020041.3(SLC2A9):c.123T>C (p.Ser41=) rs112581525 0.00304
NM_031844.3(HNRNPU):c.1743+8G>T rs75674611 0.00304
NM_001039570.3(KREMEN1):c.1242G>A (p.Arg414=) rs16987147 0.00303
NM_006412.4(AGPAT2):c.493-17C>A rs376439157 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=) rs28510663 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711 0.00301
NM_004519.4(KCNQ3):c.1236-16C>T rs201168632 0.00301
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=) rs185461070 0.00300
NM_001792.5(CDH2):c.885C>T (p.Asp295=) rs17493618 0.00300
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly) rs148664622 0.00300
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) rs553859355 0.00298
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_000901.5(NR3C2):c.1898-4T>C rs72653856 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=) rs6956646 0.00297
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_000292.3(PHKA2):c.2806+13C>A rs186550641 0.00296
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=) rs75494273 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_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu) rs149105120 0.00295
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) rs180918289 0.00295
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_002661.5(PLCG2):c.600A>G (p.Glu200=) rs142140333 0.00294
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_001792.5(CDH2):c.702+6A>T rs17493682 0.00293
NM_004933.3(CDH15):c.387A>G (p.Gly129=) rs147301479 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_030667.3(PTPRO):c.2406T>C (p.Ser802=) rs61741744 0.00293
NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met) rs111574749 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_025074.7(FRAS1):c.790-20C>T rs74461034 0.00292
NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) rs145552478 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001282225.2(ADA2):c.1081+18G>A rs200622282 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His) rs144295336 0.00290
NM_002204.4(ITGA3):c.207-18C>T rs116146771 0.00290
NM_002906.4(RDX):c.*156A>G rs186249296 0.00290
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=) rs187525163 0.00290
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_001042681.2(RERE):c.3696C>T (p.Phe1232=) rs141711704 0.00289
NM_001098484.3(SLC4A4):c.550+3A>G rs199790542 0.00289
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=) rs143682838 0.00289
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=) rs142675468 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_004525.3(LRP2):c.1869C>T (p.Ala623=) rs148468966 0.00288
NM_020919.4(ALS2):c.2842-20C>T rs189282198 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_001127178.3(PIGG):c.2204G>A (p.Arg735Gln) rs138345843 0.00287
NM_001283.5(AP1S1):c.117C>G (p.Val39=) rs148305541 0.00287
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_015047.3(EMC1):c.884T>C (p.Leu295Ser) rs3850531 0.00287
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_005879.3(TRAIP):c.99-9T>G rs181861135 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) rs35258749 0.00285
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074 0.00285
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_000490.5(AVP):c.150C>A (p.Gly50=) rs371697622 0.00284
NM_001014987.2(LAT):c.318T>C (p.Ser106=) rs140327086 0.00284
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_004447.6(EPS8):c.1653G>A (p.Ser551=) rs75362705 0.00284
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_021813.4(BACH2):c.15G>A (p.Glu5=) rs45447599 0.00283
NM_181776.3(SLC36A2):c.915C>T (p.Ile305=) rs138947074 0.00283
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_001277062.2(MFF):c.92C>T (p.Pro31Leu) rs149692814 0.00282
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys) rs148751644 0.00282
NM_005631.5(SMO):c.621C>T (p.Tyr207=) rs56318556 0.00282
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=) rs199743218 0.00281
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_018075.5(ANO10):c.1133G>A (p.Arg378Gln) rs61732728 0.00281
NM_000029.4(AGT):c.912C>T (p.Asn304=) rs61757178 0.00280
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) rs111389453 0.00278
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro) rs58966182 0.00277
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) rs114868002 0.00277
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr) rs143039637 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=) rs181910740 0.00276
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_015158.5(KANK1):c.804C>T (p.Ala268=) rs116693683 0.00275
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_198334.3(GANAB):c.38+17C>T rs200471233 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_017760.7(NCAPG2):c.975G>A (p.Glu325=) rs182403876 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) rs563226142 0.00273
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000216.4(ANOS1):c.618G>A (p.Ser206=) rs147229253 0.00272
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333 0.00272
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_005141.5(FGB):c.682A>G (p.Thr228Ala) rs149599496 0.00272
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val) rs143168314 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_014264.5(PLK4):c.2109C>A (p.Ile703=) rs74770705 0.00271
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met) rs146711260 0.00271
NM_000078.3(CETP):c.636C>T (p.Ala212=) rs5885 0.00270
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) rs183111586 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_002900.3(RBP3):c.2650G>A (p.Val884Met) rs11204213 0.00269
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=) rs115871703 0.00268
NM_012120.3(CD2AP):c.447C>T (p.Thr149=) rs145518596 0.00268
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_001372.4(DNAH9):c.6810C>T (p.His2270=) rs61732585 0.00267
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=) rs144944369 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_022916.6(VPS33A):c.624G>A (p.Arg208=) rs2277335 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=) rs113782371 0.00267
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670 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_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg) rs144182297 0.00266
NM_213655.5(WNK1):c.2172T>C (p.Val724=) rs72649808 0.00266
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_015135.3(NUP205):c.4425C>T (p.Ala1475=) rs146766044 0.00265
NM_015330.6(SPECC1L):c.153+5T>G rs143374533 0.00265
NM_016341.4(PLCE1):c.6501+18C>T rs76861037 0.00265
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro) rs146974535 0.00264
NM_015215.4(CAMTA1):c.3066+20C>T rs147462930 0.00264
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000815.5(GABRD):c.405C>T (p.His135=) rs61742636 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000642.3(AGL):c.*832G>A rs181486858 0.00261
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) rs45577437 0.00260
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00259
NM_017662.5(TRPM6):c.633T>C (p.Gly211=) rs144221623 0.00259
NM_152464.3(TMEM199):c.156A>G (p.Gln52=) rs116914442 0.00259
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_032340.4(UQCC2):c.321G>A (p.Met107Ile) rs34770331 0.00258
NM_198252.3(GSN):c.597C>T (p.Asn199=) rs146329975 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001256545.2(MEGF10):c.218+17C>G rs72786483 0.00257
NM_017662.5(TRPM6):c.390G>A (p.Glu130=) rs140236011 0.00257
NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr) rs200542540 0.00257
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001395656.1(ROBO2):c.2742T>C (p.Arg914=) rs183858273 0.00255
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) rs55869078 0.00255
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His) rs144957827 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=) rs147044660 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000337.6(SGCD):c.*158G>A rs187465743 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_004523.4(KIF11):c.1578C>A (p.His526Gln) rs112145870 0.00253
NM_015267.4(CUX2):c.81C>T (p.Val27=) rs190091435 0.00253
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_002447.4(MST1R):c.1861A>T (p.Lys621Ter) rs9819888 0.00252
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) rs45541732 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 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_198578.4(LRRK2):c.5510-9A>G rs41286460 0.00252
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln) rs148328402 0.00251
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_003355.3(UCP2):c.803C>G (p.Ala268Gly) rs45490393 0.00250
NM_003665.4(FCN3):c.750C>T (p.His250=) rs28385652 0.00249
NM_005087.4(FXR1):c.52-7C>T rs202081242 0.00249
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_015932.6(POMP):c.101+9G>A rs116855705 0.00248
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=) rs139343360 0.00248
NM_024740.2(ALG9):c.132-16T>G rs781960988 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_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_003238.6(TGFB2):c.-644A>G rs747761067 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_000337.6(SGCD):c.*8110A>C rs796540027 0.00245
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_005816.5(CD96):c.807+14A>C rs144245769 0.00245
NM_017637.6(BNC2):c.1648T>G (p.Leu550Val) rs4961490 0.00245
NM_000875.5(IGF1R):c.2782+17G>A rs186895929 0.00244
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162 0.00244
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser) rs17849504 0.00244
NM_001041.4(SI):c.4275A>G (p.Thr1425=) rs150151075 0.00243
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) rs370919547 0.00243
NM_004560.4(ROR2):c.175+17A>G rs372392835 0.00243
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_152906.7(TANGO2):c.56+148C>T rs183601770 0.00243
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_001655.5(ARCN1):c.786C>G (p.Thr262=) rs141830134 0.00242
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_001046.3(SLC12A2):c.102G>A (p.Leu34=) rs535757373 0.00241
NM_001211.6(BUB1B):c.751+15C>T rs74499462 0.00241
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_032387.5(WNK4):c.3432-20T>C rs61755630 0.00241
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 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_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala) rs201379908 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_173689.7(CRB2):c.2817G>C (p.Leu939=) rs148565778 0.00240
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000210.4(ITGA6):c.2989-6C>T rs147900066 0.00239
NM_000370.3(TTPA):c.48G>A (p.Ala16=) rs562202164 0.00239
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00239
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala) rs72657315 0.00235
NM_001379403.1(WDR26):c.1635T>C (p.His545=) rs140546120 0.00235
NM_002661.5(PLCG2):c.1557+6G>C rs139565830 0.00235
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) rs139743735 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 0.00234
NM_030761.5(WNT4):c.909C>T (p.Ile303=) rs112452625 0.00234
NM_053054.4(CATSPER1):c.231A>T (p.Gln77His) rs146165781 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr) rs756508366 0.00233
NM_001377458.1(CLCC1):c.*2854T>C rs138132875 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_005633.4(SOS1):c.*4023T>C rs1043800 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_198252.3(GSN):c.1416+16C>T rs116723395 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=) rs34964168 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_004530.6(MMP2):c.1802G>T (p.Gly601Val) rs142010233 0.00232
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330 0.00232
NM_018417.6(ADCY10):c.3765C>T (p.Tyr1255=) rs148366922 0.00232
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_001042475.3(CEP85L):c.1020+5170C>T rs537800022 0.00231
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_006514.4(SCN10A):c.950+17T>C rs188914048 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_005529.7(HSPG2):c.3657-16C>G rs139310195 0.00230
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_003681.5(PDXK):c.374C>T (p.Ser125Leu) rs77734576 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_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=) rs137940710 0.00226
NM_001264.5(CDSN):c.1525C>T (p.Leu509=) rs150958659 0.00226
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_021098.3(CACNA1H):c.2603+20C>A rs57600685 0.00226
NM_133459.4(CCBE1):c.*203A>G rs529266103 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=) rs56142442 0.00225
NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys) rs80251208 0.00225
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_013236.4(ATXN10):c.321G>A (p.Thr107=) rs61733598 0.00223
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu) rs149059377 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) rs148386572 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001349206.2(LPIN1):c.2595G>A (p.Gln865=) rs139089077 0.00221
NM_001519.4(BRF1):c.549G>A (p.Pro183=) rs144658695 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) rs75506816 0.00220
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001177316.2(SLC34A3):c.1093+19G>A rs201165474 0.00220
NM_003661.4(APOL1):c.573C>T (p.Leu191=) rs150846072 0.00220
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=) rs138701359 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_022765.4(MICAL1):c.1599G>A (p.Leu533=) rs142979809 0.00219
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_004525.3(LRP2):c.8831-13G>A rs144717648 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000268.4(NF2):c.*359G>A rs572307337 0.00217
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_006346.4(PIBF1):c.2138A>C (p.His713Pro) rs41286070 0.00217
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_012301.4(MAGI2):c.900A>G (p.Glu300=) rs111635934 0.00217
NM_020312.4(COQ9):c.625C>G (p.Leu209Val) rs78846023 0.00217
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn) rs147422861 0.00217
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) rs61752765 0.00216
NM_021095.4(SLC5A6):c.1658G>A (p.Arg553Gln) rs141244089 0.00216
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00215
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_006908.5(RAC1):c.495C>G (p.Leu165=) rs61753123 0.00215
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met) rs144580984 0.00215
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_004646.4(NPHS1):c.59-19C>A rs115350784 0.00214
NM_022454.4(SOX17):c.585G>T (p.Leu195=) rs371736816 0.00214
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr) rs200391124 0.00214
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_018979.4(WNK1):c.3489+17A>G rs185323017 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) rs139223977 0.00212
NM_002661.5(PLCG2):c.1050C>A (p.Arg350=) rs185739725 0.00212
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_006044.4(HDAC6):c.513C>T (p.Tyr171=) rs73209760 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) rs201223057 0.00210
NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp) rs199587983 0.00209
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001324418.2(ADAM22):c.133G>A (p.Val45Met) rs118019617 0.00209
NM_002150.3(HPD):c.813C>T (p.Thr271=) rs144416002 0.00209
NM_002421.4(MMP1):c.248C>A (p.Thr83Asn) rs143788145 0.00209
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_020041.3(SLC2A9):c.150+9G>A rs138627925 0.00209
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) rs145496306 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val) rs145774832 0.00208
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_006580.4(CLDN16):c.165T>C (p.Phe55=) rs144105475 0.00208
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335 0.00208
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn) rs148174540 0.00207
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=) rs150560748 0.00205
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_003922.4(HERC1):c.10547-7C>T rs192840076 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu) rs139632666 0.00202
NM_001916.5(CYC1):c.873+7G>A rs200281879 0.00202
NM_003647.3(DGKE):c.129G>A (p.Gln43=) rs139071284 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_004795.4(KL):c.1371A>C (p.Ala457=) rs150268586 0.00202
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=) rs145911280 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711 0.00201
NM_001370595.2(COA8):c.476+19C>T rs182242924 0.00201
NM_002204.4(ITGA3):c.1420G>A (p.Val474Met) rs61730081 0.00201
NM_005559.4(LAMA1):c.5481A>G (p.Val1827=) rs138711280 0.00201
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) rs137995316 0.00201
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) rs139346202 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser) rs2767471 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001379659.1(ZNF142):c.5116C>T (p.Arg1706Trp) rs72962069 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319 0.00199
NM_004998.4(MYO1E):c.978G>A (p.Arg326=) rs141570155 0.00199
NM_020810.3(TRMT5):c.70A>G (p.Ile24Val) rs115407315 0.00199
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_138927.4(SON):c.4583A>G (p.His1528Arg) rs138957569 0.00199
NM_000153.4(GALC):c.195+19G>A rs189853941 0.00198
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_001005337.3(PKP1):c.605G>A (p.Arg202His) rs78314242 0.00198
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001388492.1(HTT):c.4638C>G (p.Val1546=) rs116293982 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=) rs2280773 0.00198
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_014000.3(VCL):c.2434+19T>C rs188216596 0.00198
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_175876.5(EXOC8):c.955G>C (p.Glu319Gln) rs144793875 0.00198
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=) rs149830504 0.00197
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_001042475.3(CEP85L):c.1020+5206G>A rs146145000 0.00195
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001371623.1(TCOF1):c.4346-17T>A rs76350524 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=) rs188142101 0.00195
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00195
NM_025207.5(FLAD1):c.729C>T (p.Phe243=) rs61736264 0.00195
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_020655.4(JPH3):c.1398T>C (p.Thr466=) rs78661943 0.00194
NM_022773.4(LMF1):c.95C>T (p.Ala32Val) rs199831082 0.00194
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr) rs58394372 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000642.2(AGL):c.-208C>T rs563389574 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=) rs144145420 0.00192
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000502.6(EPX):c.801+1G>A rs34599426 0.00191
NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=) rs150423845 0.00191
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile) rs78240149 0.00190
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) rs149204675 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=) rs149837444 0.00190
NM_021738.3(SVIL):c.6133+15G>A rs187952659 0.00190
NM_032520.5(GNPTG):c.318-18G>A rs148378749 0.00190
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00190
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_000065.5(C6):c.1695C>T (p.Asp565=) rs79523005 0.00189
NM_000781.3(CYP11A1):c.438C>T (p.Ala146=) rs141920628 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=) rs143732515 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val) rs141247770 0.00189
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886 0.00188
NM_001287491.2(TET3):c.2135G>A (p.Arg712Gln) rs57955681 0.00188
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_022762.5(RMND5B):c.*1820A>G rs201653595 0.00188
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_000337.6(SGCD):c.*2604T>C rs541571525 0.00187
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_004944.4(DNASE1L3):c.705-3C>T rs186823038 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_000379.4(XDH):c.1427+15C>A rs116569100 0.00186
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_001003694.2(BRPF1):c.63C>T (p.Tyr21=) rs116359925 0.00186
NM_001170629.2(CHD8):c.2907+12A>T rs200189975 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=) rs140511721 0.00185
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_021098.3(CACNA1H):c.4778-14C>T rs374784679 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001110.4(ADAM10):c.326-10T>C rs111517153 0.00184
NM_015267.4(CUX2):c.1029G>A (p.Thr343=) rs199929446 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_001963.6(EGF):c.2491+20C>A rs11569030 0.00183
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_025074.7(FRAS1):c.1108-12T>G rs150372637 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000213.5(ITGB4):c.5218+12T>C rs55696316 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=) rs148295264 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_032607.3(CREB3L3):c.891-14C>T rs192623406 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001348800.3(ZBTB20):c.2199C>T (p.His733=) rs142627077 0.00179
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=) rs61731263 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) rs78201625 0.00179
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_182643.3(DLC1):c.3856-6G>A rs200102232 0.00179
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001378414.1(HDAC4):c.2532+18G>A rs186981980 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val) rs561402183 0.00178
NM_175875.5(SIX5):c.2173C>T (p.Leu725=) rs112320524 0.00178
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00177
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_005559.4(LAMA1):c.4554C>T (p.His1518=) rs145068849 0.00176
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_014236.4(GNPAT):c.1056-20C>A rs114267453 0.00176
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg) rs11777194 0.00176
NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser) rs201319446 0.00176
NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg) rs77002741 0.00176
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00175
NM_198252.3(GSN):c.186C>T (p.His62=) rs144551136 0.00175
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=) rs370950694 0.00174
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg) rs151327791 0.00173
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_015102.5(NPHP4):c.810+14A>C rs201977545 0.00173
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_018993.4(RIN2):c.1851C>T (p.Ala617=) rs180817901 0.00173
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
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_052874.5(STX1B):c.609G>A (p.Lys203=) rs61733980 0.00173
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) rs112513380 0.00173
NM_133259.4(LRPPRC):c.738-18T>C rs189675905 0.00173
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg) rs200951744 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_002709.3(PPP1CB):c.53-9G>A rs368197884 0.00172
NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe) rs149772375 0.00172
NM_004481.5(GALNT2):c.1077C>T (p.His359=) rs147354186 0.00172
NM_004655.4(AXIN2):c.1070G>A (p.Arg357His) rs8081536 0.00172
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) rs139022622 0.00172
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_001061.7(TBXAS1):c.880G>A (p.Val294Met) rs13306052 0.00171
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309 0.00171
NM_001735.3(C5):c.2059+16T>A rs199849879 0.00171
NM_021098.3(CACNA1H):c.1212+18T>C rs11863387 0.00171
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=) rs57181695 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_006059.4(LAMC3):c.1940-9G>A rs183574786 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu) rs77431464 0.00169
NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile) rs143121527 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_021828.5(HPSE2):c.290+7C>T rs72840396 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001206927.2(DNAH8):c.11776T>C (p.Leu3926=) rs148084212 0.00168
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_001366385.1(CARD14):c.526G>C (p.Asp176His) rs144475004 0.00168
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_002282.3(KRT83):c.760A>G (p.Ile254Val) rs150867374 0.00168
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_182643.3(DLC1):c.167A>G (p.Glu56Gly) rs143324598 0.00168
NM_001042475.3(CEP85L):c.1020+17159G>A rs150080760 0.00167
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_004525.3(LRP2):c.1976-5T>A rs373234680 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 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_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser) rs149181384 0.00166
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_005060.4(RORC):c.28C>T (p.Arg10Ter) rs17582155 0.00165
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) rs138036524 0.00165
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp) rs112895783 0.00165
NM_000194.3(HPRT1):c.384+19A>G rs183698879 0.00164
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) rs140517920 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_006642.5(SDCCAG8):c.929+18C>T rs200895248 0.00164
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_015627.3(LDLRAP1):c.*478C>T rs370958045 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000492.4(CFTR):c.*482C>T rs147862180 0.00163
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179 0.00163
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His) rs200299380 0.00163
NM_002168.4(IDH2):c.782G>A (p.Arg261His) rs118101777 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_001136191.3(KANK2):c.1038C>T (p.Ala346=) rs118109949 0.00162
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00161
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207 0.00160
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_022098.4(XPNPEP3):c.1056-9C>T rs116758113 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_005909.5(MAP1B):c.5193C>A (p.Ser1731=) rs78388066 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_198252.3(GSN):c.886+19G>T rs200255784 0.00159
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_000312.4(PROC):c.*146T>C rs140461934 0.00158
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_001003841.3(SLC6A19):c.775-4G>A rs144753758 0.00158
NM_001031689.3(PLAA):c.1486+6A>T rs189073379 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001379081.2(FREM1):c.2337+19A>G rs201898982 0.00158
NM_003597.5(KLF11):c.225C>T (p.Val75=) rs144083374 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_017649.5(CNNM2):c.360C>T (p.Phe120=) rs142276906 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=) rs114698511 0.00156
NM_001126128.2(PROK2):c.84C>G (p.Ala28=) rs372623686 0.00156
NM_001543.5(NDST1):c.927A>G (p.Pro309=) rs137903526 0.00156
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_017570.5(OPLAH):c.949+12G>A rs142819774 0.00156
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_021828.5(HPSE2):c.273C>A (p.Gly91=) rs115042847 0.00156
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln) rs146770534 0.00155
NM_001136193.2(FASTKD2):c.777+18T>C rs200187845 0.00155
NM_002156.5(HSPD1):c.561T>C (p.Ser187=) rs141357756 0.00155
NM_003480.4(MFAP5):c.410-18G>A rs151240610 0.00155
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) rs34223099 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001098484.3(SLC4A4):c.807+13T>G rs116455604 0.00154
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) rs377620137 0.00154
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=) rs115357531 0.00153
NM_001077415.3(CRELD1):c.258-13C>A rs117956843 0.00153
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) rs151283029 0.00153
NM_018965.4(TREM2):c.140G>A (p.Arg47His) rs75932628 0.00153
NM_020632.3(ATP6V0A4):c.1573-3C>T rs182512951 0.00153
NM_021098.3(CACNA1H):c.2790-20G>A rs373286579 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_033305.3(VPS13A):c.4630+17A>G rs371320559 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_000092.5(COL4A4):c.3818-15C>T rs184593123 0.00152
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_004465.2(FGF10):c.620A>C (p.His207Pro) rs147715509 0.00152
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00151
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln) rs111476645 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_033284.2(TBL1Y):c.457+1G>C rs77259694 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_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001376256.1(CRYM):c.524A>T (p.Glu175Val) rs141936944 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr) rs34580447 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu) rs148092370 0.00150
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_017649.5(CNNM2):c.2073+14T>C rs184406418 0.00150
NM_017662.5(TRPM6):c.3095-17A>T rs78719948 0.00150
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His) rs201106151 0.00150
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) rs151184011 0.00149
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738 0.00148
NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln) rs141325069 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001735.3(C5):c.921C>G (p.Val307=) rs62640871 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_004310.5(RHOH):c.144T>C (p.Asp48=) rs76788449 0.00148
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_005506.4(SCARB2):c.704+16T>C rs199686576 0.00148
NM_022773.4(LMF1):c.1608G>T (p.Val536=) rs201012186 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001330700.2(TOP2B):c.4715C>T (p.Pro1572Leu) rs62638670 0.00147
NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=) rs41307884 0.00147
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln) rs139176878 0.00147
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=) rs138156358 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_198075.4(LRRC56):c.424-9G>A rs201091147 0.00147
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) rs77323631 0.00146
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
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_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_181776.3(SLC36A2):c.882C>T (p.His294=) rs74403861 0.00146
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000337.6(SGCD):c.*3845T>C rs528838126 0.00145
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_002335.4(LRP5):c.2828-18T>C rs200093926 0.00145
NM_002335.4(LRP5):c.4488+20A>G rs554995200 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000275.3(OCA2):c.*54A>G rs192734230 0.00144
NM_001012339.3(DNAJC21):c.1186-531G>A rs112971776 0.00144
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_004628.5(XPC):c.*624A>C rs548142411 0.00144
NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=) rs145257845 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_014844.5(TECPR2):c.4081+8C>A rs199845217 0.00143
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser) rs185000070 0.00143
NM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys) rs141856398 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000789.4(ACE):c.945+16A>G rs201274031 0.00142
NM_001144869.3(LIPT2):c.273C>T (p.Phe91=) rs192239391 0.00142
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001735.3(C5):c.3303T>C (p.Cys1101=) rs145979468 0.00142
NM_004385.5(VCAN):c.1864T>C (p.Trp622Arg) rs147152203 0.00142
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_015713.5(RRM2B):c.48+48C>T rs201028777 0.00142
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) rs186192116 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001037333.3(CYFIP2):c.438C>T (p.Ala146=) rs375762537 0.00141
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00141
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_020381.4(PDSS2):c.431+17C>T rs192411971 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) rs112762537 0.00140
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249 0.00140
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val) rs72657339 0.00140
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 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_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) rs146382764 0.00139
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001384479.1(AGT):c.1298C>T rs61751077 0.00138
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe) rs3735137 0.00138
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_006445.4(PRPF8):c.3447-12C>T rs148435449 0.00138
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_000478.6(ALPL):c.473-12C>T rs147181132 0.00137
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu) rs144242373 0.00137
NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=) rs140154839 0.00137
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000384.3(APOB):c.11788+16C>T rs139704306 0.00136
NM_002474.3(MYH11):c.346-16G>C rs74009446 0.00136
NM_004525.3(LRP2):c.2908+18G>A rs182125868 0.00136
NM_005477.3(HCN4):c.-529G>A rs879470594 0.00136
NM_017827.4(SARS2):c.963-17T>C rs201465773 0.00136
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) rs143316426 0.00135
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=) rs142058280 0.00135
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) rs148648401 0.00135
NM_015627.3(LDLRAP1):c.*430G>T rs186747548 0.00135
NM_015662.3(IFT172):c.4755+9G>C rs375261962 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=) rs147070468 0.00134
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_032793.5(MFSD2A):c.93+16C>A rs189000715 0.00134
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala) rs6004132 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_000196.4(HSD11B2):c.817G>A (p.Val273Met) rs140385822 0.00130
NM_000337.6(SGCD):c.*6065A>G rs183129118 0.00130
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_001098484.3(SLC4A4):c.1322+15C>T rs151292808 0.00130
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_006180.6(NTRK2):c.500C>A (p.Ser167Tyr) rs76950094 0.00130
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe) rs149217909 0.00130
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_021098.3(CACNA1H):c.1213-18C>T rs57432507 0.00130
NM_022370.4(ROBO3):c.46G>A (p.Ala16Thr) rs189616702 0.00130
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_173689.7(CRB2):c.606G>A (p.Leu202=) rs201174974 0.00130
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=) rs143055091 0.00129
NM_018979.4(WNK1):c.677A>T (p.Glu226Val) rs72647373 0.00129
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_000836.4(GRIN2D):c.3879C>T (p.His1293=) rs370934587 0.00128
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_001144967.3(NEDD4L):c.122+9G>C rs115907798 0.00128
NM_001312909.2(FAM111A):c.1758G>A (p.Lys586=) rs144353692 0.00128
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_002661.5(PLCG2):c.3573G>A (p.Glu1191=) rs201682723 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003401.5(XRCC4):c.224T>C (p.Leu75Ser) rs61762970 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His) rs150284749 0.00127
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_001080517.3(SETD5):c.3196-8C>T rs373633825 0.00126
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) rs146847253 0.00126
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_020831.6(MRTFA):c.2245C>A (p.Leu749Ile) rs144758927 0.00126
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly) rs144018361 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_175875.5(SIX5):c.1609+14C>T rs200640688 0.00124
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_004998.4(MYO1E):c.147+14G>T rs183374173 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005585.5(SMAD6):c.336C>A (p.Gly112=) rs371330988 0.00123
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_144670.6(A2ML1):c.2463+13G>C rs151032368 0.00123
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=) rs58110066 0.00122
NM_032409.3(PINK1):c.387+20A>G rs368222506 0.00122
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00122
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) rs151092557 0.00122
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000176.3(NR3C1):c.2182-9C>G rs72542757 0.00121
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_000562.3(C8A):c.606T>C (p.Asp202=) rs150755683 0.00121
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
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_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_014994.3(MAPKBP1):c.1970C>T (p.Thr657Ile) rs139165608 0.00121
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) rs370115329 0.00121
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001103.4(ACTN2):c.*1969C>T rs753897286 0.00120
NM_004998.4(MYO1E):c.1616+17A>G rs138790400 0.00120
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_014967.5(FAN1):c.2052+16C>G rs186701091 0.00120
NM_015512.5(DNAH1):c.4941G>A (p.Ala1647=) rs369578432 0.00120
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) rs138281924 0.00120
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala) rs545761792 0.00120
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_004525.3(LRP2):c.9033-9A>G rs143892351 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672 0.00118
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_004064.5(CDKN1B):c.-126C>T rs549943001 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_017827.4(SARS2):c.696C>T (p.Arg232=) rs35389151 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_001486.4(GCKR):c.1618C>T (p.Arg540Ter) rs146053779 0.00117
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_032607.3(CREB3L3):c.544G>A (p.Asp182Asn) rs140312652 0.00117
NM_144585.4(SLC22A12):c.661+20C>T rs200442779 0.00117
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_182643.3(DLC1):c.2147T>C (p.Ile716Thr) rs114637912 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_001369.3(DNAH5):c.7752+7C>G rs143848918 0.00116
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) rs115059319 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_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741 0.00116
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) rs148549519 0.00116
NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp) rs141976854 0.00116
NM_144585.4(SLC22A12):c.1428C>T (p.Ala476=) rs146694365 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_004924.6(ACTN4):c.738C>T (p.Ile246=) rs34491236 0.00115
NM_005515.4(MNX1):c.691+10C>G rs201139239 0.00115
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=) rs149185668 0.00114
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_014669.5(NUP93):c.180-11T>A rs138944474 0.00114
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=) rs149432727 0.00114
NM_021098.3(CACNA1H):c.643+11G>A rs200949826 0.00114
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00113
NM_001070.5(TUBG1):c.813C>T (p.Thr271=) rs147337786 0.00113
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) rs3093248 0.00113
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn) rs199796758 0.00113
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_212482.4(FN1):c.2130C>T (p.Thr710=) rs140116931 0.00113
NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg) rs140272400 0.00112
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_001843.4(CNTN1):c.2980+19A>T rs181426756 0.00112
NM_004366.6(CLCN2):c.616-19C>T rs189868847 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp) rs34953651 0.00112
NM_014000.3(VCL):c.*646C>G rs41280414 0.00112
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys) rs76782506 0.00112
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=) rs372347274 0.00111
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_004069.6(AP2S1):c.75T>C (p.Asp25=) rs150080027 0.00111
NM_004366.6(CLCN2):c.1086-17G>A rs200509841 0.00111
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_004795.4(KL):c.2532G>A (p.Gln844=) rs149775738 0.00111
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) rs150308123 0.00111
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) rs149775124 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) rs11920433 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=) rs45578842 0.00110
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00110
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=) rs146394238 0.00110
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001963.6(EGF):c.3189A>G (p.Leu1063=) rs41456944 0.00110
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=) rs139854035 0.00110
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253 0.00109
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=) rs149773402 0.00109
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_006030.4(CACNA2D2):c.2995C>T (p.Pro999Ser) rs146587089 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000687.4(AHCY):c.-63A>G rs58942263 0.00108
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_001256071.3(RNF213):c.13782G>A (p.Ala4594=) rs145076497 0.00108
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_001735.3(C5):c.4762+14C>T rs372929361 0.00108
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00108
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=) rs138861857 0.00108
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln) rs144633784 0.00108
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu) rs148425779 0.00108
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_018979.4(WNK1):c.1154-16G>A rs72648630 0.00108
NM_022773.4(LMF1):c.1092G>A (p.Arg364=) rs111829625 0.00108
NM_024101.7(MLPH):c.522G>A (p.Glu174=) rs181807989 0.00108
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_201378.4(PLEC):c.71-11512C>T rs201053471 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile) rs140848307 0.00107
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_006180.6(NTRK2):c.2478G>A (p.Leu826=) rs138503321 0.00107
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu) rs116181849 0.00107
NM_173353.4(TPH2):c.616C>T (p.Pro206Ser) rs17110563 0.00107
NM_178170.3(NEK8):c.889+18G>A rs141084448 0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000642.3(AGL):c.*604A>G rs189939228 0.00106
NM_001042750.2(STAG2):c.45-11T>C rs183562950 0.00106
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) rs17855780 0.00106
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=) rs34901081 0.00106
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00106
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg) rs150656271 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_212482.4(FN1):c.416-17C>T rs142394008 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000234.3(LIG1):c.140C>T (p.Ser47Phe) rs41555118 0.00105
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr) rs76334433 0.00105
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001735.3(C5):c.5031A>G (p.Ter1677=) rs140229894 0.00105
NM_001843.4(CNTN1):c.400+13T>C rs201396853 0.00105
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766 0.00105
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_005802.5(TOPORS):c.2349G>A (p.Gly783=) rs147559581 0.00105
NM_006059.4(LAMC3):c.558C>T (p.Arg186=) rs2275135 0.00105
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_032229.3(SLITRK6):c.592T>C (p.Leu198=) rs80087848 0.00105
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) rs140218299 0.00104
NM_015713.5(RRM2B):c.685-20A>T rs142382577 0.00104
NM_021975.4(RELA):c.8-10C>T rs200603499 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_177965.4(CFAP418):c.155+20T>G rs202045168 0.00104
NM_000065.5(C6):c.933T>C (p.Ser311=) rs75043846 0.00103
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000587.4(C7):c.1258A>C (p.Lys420Gln) rs3792646 0.00103
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=) rs17173144 0.00103
NM_000944.5(PPP3CA):c.1241+17T>C rs202222838 0.00103
NM_001195305.3(BBIP1):c.137T>C (p.Met46Thr) rs11548767 0.00103
NM_001204.7(BMPR2):c.*815C>T rs184240459 0.00103
NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys) rs143184273 0.00103
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949 0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu) rs147367593 0.00103
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_014588.6(VSX1):c.2T>A (p.Met1Lys) rs192303122 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000552.5(VWF):c.2739A>C (p.Gly913=) rs35191786 0.00102
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_005491.5(MAMLD1):c.1291C>T (p.Leu431Phe) rs144862058 0.00102
NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) rs140755387 0.00102
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00102
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_145691.4(ATPAF2):c.*132C>T rs765325833 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000278.5(PAX2):c.213-8C>T rs369615430 0.00101
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001111.5(ADAR):c.1935-19G>A rs200651742 0.00101
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val) rs148698911 0.00101
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_004560.4(ROR2):c.937+16C>T rs112054737 0.00101
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=) rs150951157 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00101
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) rs117536357 0.00100
NM_002429.6(MMP19):c.13C>T (p.Gln5Ter) rs17844787 0.00100
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu) rs200444154 0.00100
NM_005918.4(MDH2):c.177G>A (p.Ala59=) rs148797426 0.00100
NM_015662.3(IFT172):c.2787+20C>T rs200344602 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp) rs147828466 0.00100
NM_152641.4(ARID2):c.1808C>T (p.Ala603Val) rs144928351 0.00100
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=) rs370069597 0.00099
NM_001395656.1(ROBO2):c.462C>T (p.Cys154=) rs200353960 0.00099
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val) rs150652745 0.00099
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_212482.4(FN1):c.547+19T>C rs183120644 0.00099
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=) rs115092488 0.00098
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_020975.6(RET):c.626-41G>A rs572623103 0.00098
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000478.6(ALPL):c.-104-5T>C rs184586988 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_018006.4(TRMU):c.-147C>A rs190351151 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000337.6(SGCD):c.*8356T>A rs576236693 0.00096
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) rs8176349 0.00096
NM_001042646.3(TRAK1):c.1451C>T (p.Pro484Leu) rs138190882 0.00096
NM_001063.4(TF):c.1027C>T (p.Arg343Trp) rs150854910 0.00096
NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr) rs1577181 0.00096
NM_001204.7(BMPR2):c.*2833G>A rs77006932 0.00096
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001957.4(EDNRA):c.24A>G (p.Ala8=) rs146092355 0.00096
NM_002204.4(ITGA3):c.1290C>T (p.Phe430=) rs78768954 0.00096
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_003922.4(HERC1):c.12967-4C>G rs374953824 0.00096
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_020041.3(SLC2A9):c.249+11G>T rs377565288 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_053025.4(MYLK):c.*1653G>A rs780658640 0.00096
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu) rs141156594 0.00096
NM_181776.3(SLC36A2):c.426C>T (p.His142=) rs79265984 0.00096
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr) rs189868197 0.00096
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=) rs557019592 0.00095
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=) rs61732194 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000157.4(GBA1):c.1473C>T (p.Pro491=) rs149257166 0.00094
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001046.3(SLC12A2):c.876+17_876+18del rs556046317 0.00094
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_002661.5(PLCG2):c.432-3C>T rs147749022 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966 0.00094
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn) rs145829337 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=) rs200144667 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_152424.4(AMER1):c.918G>A (p.Gly306=) rs147299494 0.00094
NM_212482.4(FN1):c.1002G>A (p.Thr334=) rs138271073 0.00094
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) rs151266668 0.00093
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val) rs139215644 0.00093
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991 0.00093
NM_001735.3(C5):c.1418A>G (p.His473Arg) rs78640581 0.00093
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_003672.4(CDC14A):c.457-6T>C rs202211124 0.00093
NM_005515.4(MNX1):c.126A>G (p.Gly42=) rs536068265 0.00093
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) rs146559698 0.00093
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_018076.5(ODAD2):c.1534-19C>G rs375614529 0.00093
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018206.6(VPS35):c.834T>C (p.Thr278=) rs148572750 0.00093
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) rs139226733 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_138694.4(PKHD1):c.3097+15G>T rs376878007 0.00093
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) rs201522681 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000719.7(CACNA1C):c.4074+14A>G rs371806132 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001164508.2(NEB):c.3987+11A>T rs116903097 0.00092
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His) rs141532428 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_017950.4(CCDC40):c.1562+2018C>T rs562415439 0.00092
NM_018013.4(SOBP):c.1416C>A (p.Pro472=) rs369211430 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_212482.4(FN1):c.1110G>A (p.Thr370=) rs149123808 0.00092
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001144967.3(NEDD4L):c.813+5G>A rs199959002 0.00091
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) rs200459002 0.00091
NM_001282225.2(ADA2):c.783C>T (p.Asp261=) rs150249309 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_004048.4(B2M):c.67+19C>T rs185185288 0.00091
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_017649.5(CNNM2):c.2233+17C>T rs201729946 0.00091
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser) rs146087534 0.00091
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=) rs145794885 0.00091
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896 0.00091
NM_198569.3(ADGRG6):c.354A>G (p.Leu118=) rs140723393 0.00091
NM_000041.4(APOE):c.651C>T (p.Ala217=) rs72654468 0.00090
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_000278.5(PAX2):c.819G>C (p.Leu273=) rs144433354 0.00090
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_000540.3(RYR1):c.7836-19C>T rs201378267 0.00090
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=) rs149623670 0.00090
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00089
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=) rs146425138 0.00089
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) rs201673783 0.00089
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=) rs200063334 0.00089
NM_001395656.1(ROBO2):c.471C>T (p.Pro157=) rs201406456 0.00089
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_004281.4(BAG3):c.1503C>A (p.Val501=) rs147277075 0.00089
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_005633.4(SOS1):c.*534C>T rs773935049 0.00089
NM_014251.3(SLC25A13):c.-115G>T rs543933601 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_021098.3(CACNA1H):c.5173+18C>T rs373269618 0.00089
NM_032382.5(COG8):c.5C>T (p.Ala2Val) rs151318611 0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr) rs75123867 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495 0.00088
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser) rs148069432 0.00088
NM_001963.6(EGF):c.941-9C>A rs147880662 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) rs143522467 0.00088
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_004525.3(LRP2):c.1042+19C>T rs183348926 0.00088
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_016335.6(PRODH):c.517+19C>T rs370155847 0.00088
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln) rs140569195 0.00088
NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=) rs147534794 0.00088
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) rs2277792 0.00088
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile) rs559032155 0.00087
NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu) rs141967170 0.00087
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_001364905.1(LRBA):c.4339+18G>A rs199713609 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 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_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00087
NM_004525.3(LRP2):c.2909-19C>T rs144286272 0.00087
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_178170.3(NEK8):c.1299+3G>T rs201629139 0.00087
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=) rs147473975 0.00086
NM_001042413.2(GLIS3):c.744A>G (p.Leu248=) rs139080385 0.00086
NM_001136191.3(KANK2):c.2543C>T (p.Ser848Leu) rs146639208 0.00086
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001371986.1(UNC80):c.2616G>A (p.Pro872=) rs200238702 0.00086
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_013336.4(SEC61A1):c.784C>A (p.Arg262=) rs144643278 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_015662.3(IFT172):c.2787+6G>A rs75805075 0.00086
NM_020041.3(SLC2A9):c.681+13C>T rs202000076 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_130849.4(SLC39A4):c.-10G>A rs372200912 0.00086
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_177924.5(ASAH1):c.*103G>A rs181616268 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) rs184844415 0.00086
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00085
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_004309.6(ARHGDIA):c.*243G>A rs189865523 0.00085
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_144773.4(PROKR2):c.1122C>A (p.Thr374=) rs76469093 0.00085
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000337.6(SGCD):c.*4993A>C rs62382385 0.00084
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001243133.2(NLRP3):c.2151-7T>C rs116546330 0.00084
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_004252.5(NHERF1):c.888+13T>C rs200500451 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_014317.5(PDSS1):c.1027-11T>C rs142244210 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_020381.4(PDSS2):c.1009-14C>G rs188095740 0.00084
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00084
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) rs151125150 0.00083
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) rs144356360 0.00083
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser) rs146614981 0.00083
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_002223.4(ITPR2):c.6551C>G (p.Thr2184Ser) rs184496919 0.00083
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=) rs3814518 0.00083
NM_014317.5(PDSS1):c.411A>G (p.Arg137=) rs114640034 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met) rs150655393 0.00083
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_021098.3(CACNA1H):c.2451+20C>T rs144765479 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_144639.3(UROC1):c.59G>A (p.Arg20Gln) rs184621973 0.00083
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_175875.5(SIX5):c.549G>A (p.Val183=) rs143904307 0.00083
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=) rs149166539 0.00082
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
NM_001735.3(C5):c.306G>A (p.Val102=) rs151322743 0.00082
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_020041.3(SLC2A9):c.351C>T (p.Phe117=) rs148002726 0.00082
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile) rs149544995 0.00082
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000316.3(PTH1R):c.75+12G>A rs200603325 0.00081
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) rs56282370 0.00081
NM_001348484.3(RIMS2):c.2309+9G>T rs117733379 0.00081
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001379500.1(COL18A1):c.1702-20G>A rs374576102 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001735.3(C5):c.450C>T (p.Asp150=) rs141829974 0.00081
NM_003476.5(CSRP3):c.*245T>C rs369635973 0.00081
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=) rs182614197 0.00081
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu) rs149549954 0.00081
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) rs114649126 0.00081
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala) rs117911920 0.00081
NM_018417.6(ADCY10):c.1902G>A (p.Val634=) rs146639825 0.00081
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) rs140947977 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn) rs117543061 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000603.5(NOS3):c.465C>G (p.Ala155=) rs200774720 0.00080
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=) rs141683516 0.00080
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu) rs200673226 0.00080
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_014669.5(NUP93):c.621C>G (p.Asp207Glu) rs140226964 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_212482.4(FN1):c.1626C>T (p.Asn542=) rs138144264 0.00080
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_001414.4(EIF2B1):c.429G>A (p.Ala143=) rs148714712 0.00079
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) rs367704087 0.00079
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu) rs146356975 0.00078
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000210.4(ITGA6):c.2161-17G>A rs377682187 0.00078
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001204.7(BMPR2):c.*2854T>G rs752981394 0.00078
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile) rs151213445 0.00078
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_002335.4(LRP5):c.4112-14T>C rs200717286 0.00078
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_006005.3(WFS1):c.1143G>A (p.Leu381=) rs151153967 0.00078
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) rs8178235 0.00078
NM_014967.5(FAN1):c.2118A>C (p.Arg706=) rs141559766 0.00078
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=) rs77922936 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=) rs150957564 0.00078
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_003042.4(SLC6A1):c.953+19G>A rs113968319 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_006734.4(HIVEP2):c.2367A>G (p.Leu789=) rs201358604 0.00077
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_021098.3(CACNA1H):c.3744+17G>A rs187187164 0.00077
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_032387.5(WNK4):c.2157+6G>C rs61755607 0.00077
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_212482.4(FN1):c.1547-6A>G rs3213885 0.00077
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) rs150246404 0.00076
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001127511.3(APC):c.-204A>G rs554351451 0.00076
NM_001220.5(CAMK2B):c.1059+15G>A rs200508041 0.00076
NM_001358921.2(COQ2):c.651G>A (p.Ala217=) rs199581249 0.00076
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr) rs151073459 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) rs138864377 0.00076
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_015662.3(IFT172):c.5161-20G>A rs372154058 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_017947.4(MOCOS):c.1908G>A (p.Leu636=) rs147207715 0.00076
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=) rs150444121 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_002204.4(ITGA3):c.2184C>T (p.His728=) rs146262123 0.00075
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_013328.4(PYCR2):c.924C>G (p.Leu308=) rs181648767 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser) rs143493699 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000718.4(CACNA1B):c.2886C>A (p.Pro962=) rs374275536 0.00074
NM_001005498.4(RHBDF2):c.272+10C>T rs374497069 0.00074
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) rs145413043 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001759.4(CCND2):c.756G>A (p.Ala252=) rs145050894 0.00074
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr) rs148467625 0.00074
NM_003238.6(TGFB2):c.-338T>A rs148765724 0.00074
NM_003413.4(ZIC3):c.*260T>C rs41299098 0.00074
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_004998.4(MYO1E):c.2627+8C>T rs12232341 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_031924.8(RSPH3):c.-384C>T rs140715430 0.00074
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu) rs200854813 0.00074
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000085.5(CLCNKB):c.1227+11T>C rs201479763 0.00073
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000587.4(C7):c.1852C>T (p.Arg618Trp) rs202140226 0.00073
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=) rs139103369 0.00073
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=) rs140343487 0.00073
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00073
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln) rs10007569 0.00073
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile) rs147150415 0.00073
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr) rs78499613 0.00073
NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=) rs143363077 0.00073
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00073
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val) rs139136931 0.00073
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323 0.00073
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser) rs948210454 0.00073
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly) rs113184057 0.00073
NM_015158.5(KANK1):c.2544G>C (p.Leu848=) rs138739899 0.00073
NM_016335.6(PRODH):c.1252-14C>T rs189009057 0.00073
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=) rs57606792 0.00073
NM_021098.3(CACNA1H):c.804-8A>G rs367708036 0.00073
NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=) rs3809986 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu) rs144852879 0.00073
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) rs79198735 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001002295.2(GATA3):c.1050+19G>A rs150545188 0.00072
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=) rs758424441 0.00072
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_001378964.1(CDON):c.350-11A>G rs199981607 0.00072
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) rs148713374 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_005881.4(BCKDK):c.717-15C>T rs201213741 0.00072
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln) rs58594334 0.00072
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00072
NM_032856.5(WDR73):c.883+8C>T rs200133030 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) rs150800688 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001046.3(SLC12A2):c.2005+9T>C rs10463502 0.00071
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_004998.4(MYO1E):c.511-17C>T rs118012522 0.00071
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_007214.5(SEC63):c.1441-4C>G rs200112157 0.00071
NM_012120.3(CD2AP):c.1530+20G>A rs185360746 0.00071
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) rs140893133 0.00071
NM_017909.4(RMND1):c.1167G>A (p.Thr389=) rs116201484 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_033026.6(PCLO):c.13495A>G (p.Ile4499Val) rs182078347 0.00071
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041 0.00071
NM_153766.3(KCNJ1):c.-21-2138C>T rs34191956 0.00071
NM_173353.4(TPH2):c.122C>A (p.Ser41Tyr) rs78162420 0.00071
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000451.4(SHOX):c.634-14G>T rs759067813 0.00070
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp) rs144046572 0.00070
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile) rs189149543 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001701.4(BAAT):c.685G>A (p.Val229Ile) rs141722672 0.00070
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_014956.5(CEP164):c.194+20G>A rs184566454 0.00070
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=) rs141568521 0.00070
NM_025074.7(FRAS1):c.10390-18A>T rs146407399 0.00070
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_032581.4(HYCC1):c.766G>C (p.Ala256Pro) rs142984808 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000314.8(PTEN):c.-666G>A rs553371022 0.00069
NM_000379.4(XDH):c.101-7C>T rs113007282 0.00069
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met) rs202148932 0.00069
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001735.3(C5):c.267A>C (p.Pro89=) rs758128814 0.00069
NM_003661.4(APOL1):c.318T>C (p.Asn106=) rs141898256 0.00069
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
NM_005378.6(MYCN):c.429C>T (p.Ala143=) rs532543210 0.00069
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu) rs140299648 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_033453.4(ITPA):c.124C>T (p.Leu42=) rs142574480 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_000091.5(COL4A3):c.888+17G>A rs199840268 0.00068
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=) rs150804109 0.00068
NM_000260.4(MYO7A):c.2283-20C>T rs371838579 0.00068
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) rs142335345 0.00068
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00068
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001046.3(SLC12A2):c.261C>T (p.Ser87=) rs543480974 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001134363.3(RBM20):c.*2787A>T rs566666703 0.00068
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys) rs61735631 0.00068
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_004281.4(BAG3):c.*402T>C rs541591765 0.00068
NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala) rs138481447 0.00068
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170 0.00068
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798 0.00068
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_017662.5(TRPM6):c.5424T>C (p.Pro1808=) rs140812450 0.00068
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) rs371026871 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_001008388.5(CISD2):c.104-9C>A rs190212874 0.00067
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln) rs138085317 0.00067
NM_001232.3(CASQ2):c.-234C>A rs553316024 0.00067
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131 0.00067
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=) rs369051842 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_002661.5(PLCG2):c.3112C>T (p.Leu1038=) rs200813182 0.00067
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_006662.3(SRCAP):c.1134+6G>C rs143387966 0.00067
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_017662.5(TRPM6):c.2811G>A (p.Ala937=) rs145231172 0.00067
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=) rs60537026 0.00067
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys) rs149056587 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_025216.3(WNT10A):c.-123C>A rs928677784 0.00067
NM_033124.5(CCDC65):c.456G>A (p.Glu152=) rs145100370 0.00067
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001046.3(SLC12A2):c.3100+13A>T rs199929591 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser) rs150863118 0.00066
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00066
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001277115.2(DNAH11):c.2542G>A (p.Val848Met) rs80328282 0.00066
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) rs4252315 0.00066
NM_003661.4(APOL1):c.1116G>A (p.Lys372=) rs201657348 0.00066
NM_003690.4(PRKRA):c.-149T>C rs559331370 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_019112.4(ABCA7):c.4886C>T (p.Ser1629Leu) rs184590335 0.00066
NM_021098.3(CACNA1H):c.6048+18C>A rs72552057 0.00066
NM_022098.4(XPNPEP3):c.970-9T>C rs117568682 0.00066
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_025074.7(FRAS1):c.9317-4G>A rs142971896 0.00066
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_198334.3(GANAB):c.1386+18C>T rs79188721 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) rs369108075 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
NM_000628.5(IL10RB):c.646+19C>A rs75303005 0.00065
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys) rs115260488 0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_001963.6(EGF):c.662G>C (p.Arg221Thr) rs144437729 0.00065
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys) rs75437827 0.00065
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 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_173551.5(ANKS6):c.2409G>A (p.Ala803=) rs373756771 0.00065
NM_000085.5(CLCNKB):c.1930-6A>G rs72474563 0.00064
NM_000093.5(COL5A1):c.-364G>C rs780212970 0.00064
NM_000216.4(ANOS1):c.264G>A (p.Glu88=) rs41304727 0.00064
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000631.5(NCF4):c.647C>T (p.Thr216Met) rs146911421 0.00064
NM_001041.4(SI):c.4541-18T>G rs111418304 0.00064
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_001177316.2(SLC34A3):c.1727G>T (p.Ser576Ile) rs200090657 0.00064
NM_001177316.2(SLC34A3):c.919C>A (p.Leu307Met) rs202109348 0.00064
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp) rs113332942 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=) rs369101934 0.00064
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) rs140563222 0.00064
NM_005359.6(SMAD4):c.*202A>G rs765823244 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu) rs146723409 0.00064
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_138409.4(MRAP2):c.374G>A (p.Arg125His) rs115655382 0.00064
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg) rs150879765 0.00064
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_001395656.1(ROBO2):c.4323C>T (p.Thr1441=) rs201527229 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val) rs41314039 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) rs138903794 0.00063
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_006012.4(CLPP):c.555+16G>A rs74894429 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_015158.5(KANK1):c.453C>T (p.Asn151=) rs139301285 0.00063
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile) rs138915052 0.00063
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=) rs371762447 0.00063
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=) rs374421144 0.00063
NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile) rs200583760 0.00063
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=) rs187816883 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu) rs146550489 0.00063
NM_212482.4(FN1):c.1023C>T (p.Ser341=) rs138120768 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=) rs116104487 0.00062
NM_001142800.2(EYS):c.3444-15del rs546966286 0.00062
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004525.3(LRP2):c.891T>C (p.Asp297=) rs112343092 0.00062
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His) rs147458427 0.00062
NM_015160.3(PMPCA):c.633+17G>A rs142661443 0.00062
NM_015713.5(RRM2B):c.551-18C>T rs72554100 0.00062
NM_017947.4(MOCOS):c.447C>T (p.Thr149=) rs142201209 0.00062
NM_018013.4(SOBP):c.1729C>T (p.Pro577Ser) rs200685194 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_078480.3(PUF60):c.1254G>A (p.Glu418=) rs117178721 0.00062
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_173854.6(SLC41A1):c.993-4A>G rs370322036 0.00062
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000085.5(CLCNKB):c.968+9C>T rs200650615 0.00061
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340 0.00061
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719 0.00061
NM_000213.5(ITGB4):c.2963-13G>A rs77473568 0.00061
NM_000255.4(MMUT):c.1444+13G>A rs374285380 0.00061
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_000875.5(IGF1R):c.2202-16T>G rs187330252 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) rs140004653 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001963.6(EGF):c.891A>C (p.Val297=) rs146585233 0.00061
NM_002204.4(ITGA3):c.759G>A (p.Thr253=) rs138622747 0.00061
NM_002335.4(LRP5):c.4348+3A>G rs61375162 0.00061
NM_002353.3(TACSTD2):c.-56C>G rs774270086 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) rs79272253 0.00061
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003661.4(APOL1):c.1182G>A (p.Ala394=) rs185040686 0.00061
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_014956.5(CEP164):c.2362-15C>T rs201819583 0.00061
NM_015158.5(KANK1):c.3245+9C>T rs144003040 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_022042.4(SLC26A1):c.166G>A (p.Ala56Thr) rs142573758 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln) rs149389156 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033380.3(COL4A5):c.2147-12A>G rs749368555 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_173653.4(SLC9A9):c.1486G>A (p.Asp496Asn) rs111291437 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu) rs150145204 0.00060
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_001735.3(C5):c.3230+17G>C rs374404058 0.00060
NM_002163.4(IRF8):c.859G>A (p.Val287Met) rs28368114 0.00060
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_004795.4(KL):c.537G>C (p.Arg179=) rs769292412 0.00060
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_017909.4(RMND1):c.795C>G (p.His265Gln) rs150706976 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=) rs377419083 0.00059
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_001085411.3(NADK2):c.672A>T (p.Leu224Phe) rs143886977 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_002335.4(LRP5):c.686+13G>A rs377344481 0.00059
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val) rs55720981 0.00059
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_005378.6(MYCN):c.69G>T (p.Ser23=) rs141260022 0.00059
NM_005633.4(SOS1):c.*559C>T rs572880679 0.00059
NM_006662.3(SRCAP):c.307-7T>C rs201397245 0.00059
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00059
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687 0.00059
NM_016335.6(PRODH):c.822C>T (p.Asp274=) rs146178333 0.00059
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=) rs373205864 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000313.4(PROS1):c.258A>G (p.Leu86=) rs139964194 0.00058
NM_000379.4(XDH):c.1911C>T (p.Ser637=) rs142197675 0.00058
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001098484.3(SLC4A4):c.3099+15A>G rs576304574 0.00058
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter) rs146551804 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_001903.5(CTNNA1):c.1899+18A>G rs562041100 0.00058
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044 0.00058
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=) rs201505782 0.00058
NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr) rs138107415 0.00058
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_014862.4(ARNT2):c.1918+18G>A rs149334476 0.00058
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199 0.00058
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_020041.3(SLC2A9):c.30G>A (p.Lys10=) rs147368076 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) rs2276717 0.00058
NM_021098.3(CACNA1H):c.299+20G>T rs1291334132 0.00058
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_174934.4(SCN4B):c.*961A>G rs561492722 0.00058
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_198428.3(BBS9):c.1432+7T>G rs150963080 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000337.6(SGCD):c.*4608G>A rs541428502 0.00057
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000642.2(AGL):c.-134C>G rs548243205 0.00057
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=) rs150229101 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001358921.2(COQ2):c.1044C>T (p.Val348=) rs6834269 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_003737.4(DCHS1):c.3481+9A>T rs141566818 0.00057
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
NM_015141.4(GPD1L):c.619-9C>G rs2044880 0.00057
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) rs914207699 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_182476.3(COQ6):c.1319C>A (p.Pro440Gln) rs148444170 0.00057
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=) rs11918961 0.00057
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) rs144157543 0.00056
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000211.5(ITGB2):c.1358G>A (p.Ser453Asn) rs138659490 0.00056
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00056
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_000337.6(SGCD):c.*6833G>A rs137998497 0.00056
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_001041.4(SI):c.3466C>T (p.Leu1156=) rs144285578 0.00056
NM_001041.4(SI):c.484-8C>G rs201820421 0.00056
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=) rs148940265 0.00056
NM_001204.7(BMPR2):c.*5252A>G rs528034202 0.00056
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001572.5(IRF7):c.739G>A (p.Gly247Arg) rs201379782 0.00056
NM_002204.4(ITGA3):c.2707-8C>T rs377664197 0.00056
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_003476.5(CSRP3):c.*638T>C rs779532194 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) rs139624364 0.00056
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr) rs138965635 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) rs139982397 0.00056
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) rs113092523 0.00056
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala) rs555092681 0.00055
NM_001354483.2(CSGALNACT1):c.783G>A (p.Thr261=) rs76263557 0.00055
NM_001369369.1(FOXN1):c.832A>G (p.Ile278Val) rs113979879 0.00055
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_002335.4(LRP5):c.1015+17G>C rs374132632 0.00055
NM_002661.5(PLCG2):c.57G>A (p.Lys19=) rs369542354 0.00055
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_005378.6(MYCN):c.1062G>A (p.Ala354=) rs201114632 0.00055
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile) rs142276689 0.00055
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) rs376818200 0.00055
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=) rs72650730 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) rs144659358 0.00055
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_032409.3(PINK1):c.1488+17C>T rs140025459 0.00055
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_181078.3(IL21R):c.605C>T (p.Ala202Val) rs147673485 0.00055
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000238.4(KCNH2):c.3153-18C>T rs201337201 0.00054
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) rs200102454 0.00054
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) rs72729259 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_014000.3(VCL):c.*1282C>T rs529687198 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_021098.3(CACNA1H):c.3845+8G>A rs200291203 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_033337.3(CAV3):c.*834A>T rs771619043 0.00054
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_144773.4(PROKR2):c.390C>T (p.Ser130=) rs144778137 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) rs201569045 0.00054
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_212482.4(FN1):c.2829C>T (p.Pro943=) rs112901124 0.00054
NM_000054.7(AVPR2):c.189T>C (p.Ala63=) rs140156037 0.00053
NM_000085.5(CLCNKB):c.358+20G>A rs199657323 0.00053
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) rs145180358 0.00053
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val) rs144804175 0.00053
NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala) rs139287033 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_001003841.3(SLC6A19):c.343+11C>T rs146085736 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys) rs185119682 0.00053
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr) rs61744537 0.00053
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) rs143369158 0.00053
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) rs575866552 0.00053
NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp) rs138991613 0.00053
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=) rs80038357 0.00053
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser) rs121434431 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004560.4(ROR2):c.494+17C>T rs201549038 0.00053
NM_004946.3(DOCK2):c.5165G>A (p.Arg1722Gln) rs199698060 0.00053
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006701.5(TXNL4A):c.423C>T (p.Arg141=) rs143131944 0.00053
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) rs115758363 0.00053
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_017565.4(FAM20A):c.1314C>T (p.His438=) rs78050433 0.00053
NM_017570.5(OPLAH):c.2096+8G>A rs372984548 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031 0.00053
NM_021098.3(CACNA1H):c.3970-6C>T rs200403676 0.00053
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_032520.5(GNPTG):c.-10C>A rs1017797000 0.00053
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His) rs149434700 0.00053
NM_144596.4(TTC8):c.910-16T>G rs199763558 0.00053
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_173551.5(ANKS6):c.1617+12G>A rs199751679 0.00053
NM_182746.3(MCM4):c.848T>C (p.Ile283Thr) rs149232439 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_213653.4(HJV):c.904G>A (p.Glu302Lys) rs143496559 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000213.5(ITGB4):c.1215+19A>G rs201686414 0.00052
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00052
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met) rs138390777 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001144967.3(NEDD4L):c.49-6T>C rs375043092 0.00052
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001220.5(CAMK2B):c.1260G>A (p.Arg420=) rs550135870 0.00052
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=) rs139243684 0.00052
NM_005633.4(SOS1):c.*3989G>C rs751112874 0.00052
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_014956.5(CEP164):c.2844+8A>G rs142545580 0.00052
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939 0.00052
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_025114.4(CEP290):c.4705-18C>T rs199751805 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu) rs201409874 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_138694.4(PKHD1):c.11311-19C>G rs181140024 0.00052
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_175875.5(SIX5):c.1264C>T (p.Leu422=) rs193244455 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile) rs149939736 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000642.3(AGL):c.*595A>G rs763929813 0.00051
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=) rs138234695 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001136191.3(KANK2):c.1138C>T (p.Arg380Cys) rs144821191 0.00051
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr) rs185533207 0.00051
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=) rs146085234 0.00051
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser) rs145145511 0.00051
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00051
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=) rs544649941 0.00051
NM_001250.6(CD40):c.*178G>A rs565941222 0.00051
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001626.6(AKT2):c.282C>T (p.Asp94=) rs139125633 0.00051
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr) rs28383151 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr) rs186098891 0.00051
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_012188.5(FOXI1):c.231C>G (p.Pro77=) rs550209761 0.00051
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=) rs148005928 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_014003.4(DHX38):c.923C>T (p.Thr308Met) rs61749038 0.00051
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_015158.5(KANK1):c.2847G>A (p.Thr949=) rs114869733 0.00051
NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) rs79385822 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln) rs141638717 0.00051
NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser) rs146698292 0.00051
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_212482.4(FN1):c.6336T>C (p.Pro2112=) rs148278567 0.00051
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) rs146084461 0.00050
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) rs139241892 0.00050
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr) rs560568324 0.00050
NM_001372.4(DNAH9):c.4745+11G>A rs188575211 0.00050
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=) rs147229014 0.00050
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_018417.6(ADCY10):c.324G>A (p.Glu108=) rs145109141 0.00050
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_020347.4(LZTFL1):c.881+16C>T rs193075494 0.00050
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_033337.3(CAV3):c.*741G>A rs560215660 0.00050
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_000054.7(AVPR2):c.441G>A (p.Ala147=) rs143055328 0.00049
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn) rs150740880 0.00049
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000428.3(LTBP2):c.-93C>T rs769936231 0.00049
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) rs6405 0.00049
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp) rs143091111 0.00049
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=) rs372941168 0.00049
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001863.5(COX6B1):c.107-16A>G rs187740487 0.00049
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_003982.4(SLC7A7):c.500-20C>G rs375933584 0.00049
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_004998.4(MYO1E):c.669G>A (p.Gln223=) rs142105673 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) rs150840874 0.00049
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg) rs139229844 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_017763.6(RNF43):c.319G>A (p.Val107Ile) rs199909371 0.00049
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_020347.4(LZTFL1):c.128+13G>A rs192123238 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) rs142038791 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_148960.3(CLDN19):c.229A>G (p.Ile77Val) rs140190002 0.00049
NM_212482.4(FN1):c.117C>G (p.Pro39=) rs148348956 0.00049
NM_212482.4(FN1):c.5623-13C>G rs192981567 0.00049
NM_000065.5(C6):c.1999G>C (p.Asp667His) rs184169749 0.00048
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile) rs138172448 0.00048
NM_000133.4(F9):c.*293C>T rs747670394 0.00048
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000213.5(ITGB4):c.387C>T (p.Pro129=) rs140040189 0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000278.5(PAX2):c.212+12G>A rs546505132 0.00048
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000335.5(SCN5A):c.1335C>T (p.His445=) rs368045716 0.00048
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp) rs139904243 0.00048
NM_000444.6(PHEX):c.249C>T (p.Phe83=) rs145224279 0.00048
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619 0.00048
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00048
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) rs104895503 0.00048
NM_001134363.3(RBM20):c.*1360G>A rs572337036 0.00048
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=) rs8071451 0.00048
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001206927.2(DNAH8):c.4303-15T>C rs201364154 0.00048
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr) rs147559626 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) rs886059669 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001957.4(EDNRA):c.549-10T>C rs10305905 0.00048
NM_002335.4(LRP5):c.4348+19G>A rs112052770 0.00048
NM_002661.5(PLCG2):c.110C>A (p.Thr37Asn) rs147349332 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
NM_014679.5(CEP57):c.572T>A (p.Leu191His) rs150399616 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00048
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_017827.4(SARS2):c.576C>T (p.Val192=) rs150249937 0.00048
NM_018979.4(WNK1):c.915G>A (p.Thr305=) rs72648609 0.00048
NM_020638.3(FGF23):c.342G>A (p.Arg114=) rs138972495 0.00048
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser) rs201912422 0.00048
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.3969+20C>T rs201422742 0.00048
NM_021098.3(CACNA1H):c.5445+6C>T rs372544546 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu) rs200056545 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_031433.4(MFRP):c.1345G>A (p.Gly449Ser) rs139725672 0.00048
NM_033028.5(BBS4):c.460-20T>C rs200203402 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) rs201904871 0.00048
NM_178170.3(NEK8):c.419G>T (p.Arg140Leu) rs141599330 0.00048
NM_181776.3(SLC36A2):c.1392C>T (p.Asp464=) rs144651323 0.00048
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) rs3093765 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro) rs139313647 0.00047
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00047
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00047
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001103.4(ACTN2):c.*551G>A rs566548706 0.00047
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) rs190855421 0.00047
NM_001379110.1(SLC9A6):c.1460+6T>C rs781963949 0.00047
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619 0.00047
NM_001735.3(C5):c.4899C>T (p.Phe1633=) rs149147126 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=) rs372144482 0.00047
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) rs139535827 0.00047
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_030665.4(RAI1):c.4317G>T (p.Gly1439=) rs572421943 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_182548.4(LHFPL5):c.*429C>T rs1283607110 0.00047
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=) rs35847451 0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839 0.00046
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000337.6(SGCD):c.*5591G>A rs746078886 0.00046
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000379.4(XDH):c.192G>T (p.Lys64Asn) rs182317768 0.00046
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000755.5(CRAT):c.1452C>T (p.Asp484=) rs113981850 0.00046
NM_000755.5(CRAT):c.1797C>T (p.Asn599=) rs2296770 0.00046
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00046
NM_001041.4(SI):c.3634-14A>T rs199634091 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001134363.3(RBM20):c.*936T>A rs150308379 0.00046
NM_001148.6(ANK2):c.10289A>C (p.Glu3430Ala) rs149574241 0.00046
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala) rs141807661 0.00046
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001349206.2(LPIN1):c.564G>A (p.Ser188=) rs149765431 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=) rs141711078 0.00046
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_002439.5(MSH3):c.2016T>G (p.Ile672Met) rs139593361 0.00046
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_003118.4(SPARC):c.157G>A (p.Gly53Arg) rs146500464 0.00046
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His) rs150281816 0.00046
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004525.3(LRP2):c.13728+13G>A rs200492791 0.00046
NM_005045.4(RELN):c.5530-18A>G rs188302870 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr) rs143717354 0.00046
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg) rs140285200 0.00046
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006662.3(SRCAP):c.633+9T>C rs150267250 0.00046
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=) rs377647192 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_019109.5(ALG1):c.391-15C>G rs374836725 0.00046
NM_020937.4(FANCM):c.159C>T (p.Asp53=) rs147559750 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_032228.6(FAR1):c.909T>C (p.Tyr303=) rs2293593 0.00046
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_033028.5(BBS4):c.157-19A>G rs373166573 0.00046
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_144585.4(SLC22A12):c.662-7C>T rs373881060 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr) rs147528059 0.00046
NM_182476.3(COQ6):c.1337C>T (p.Thr446Met) rs146458320 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007 0.00045
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys) rs142329784 0.00045
NM_000379.4(XDH):c.3871G>A (p.Val1291Met) rs191740294 0.00045
NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln) rs139691722 0.00045
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000642.3(AGL):c.*564T>C rs552782825 0.00045
NM_000944.5(PPP3CA):c.496+11T>C rs369281154 0.00045
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00045
NM_001080.3(ALDH5A1):c.355-9C>G rs375453445 0.00045
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_001127198.5(TMC6):c.536+14del rs544848558 0.00045
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_001204.7(BMPR2):c.-407G>T rs886055468 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267 0.00045
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) rs754779853 0.00045
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=) rs2290333 0.00045
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) rs200185988 0.00045
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) rs145795884 0.00045
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) rs145106503 0.00045
NM_004006.3(DMD):c.-188C>T rs886043394 0.00045
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00045
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_014994.3(MAPKBP1):c.2236C>T (p.Arg746Trp) rs61729964 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00045
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_033026.6(PCLO):c.311G>A (p.Arg104His) rs201699382 0.00045
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_144585.4(SLC22A12):c.973C>T (p.Arg325Trp) rs150255373 0.00045
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=) rs146161090 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) rs138593265 0.00045
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00044
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) rs146536539 0.00044
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001041.4(SI):c.885T>C (p.Phe295=) rs141754766 0.00044
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_001046.3(SLC12A2):c.953-7C>T rs201608609 0.00044
NM_001061.7(TBXAS1):c.999C>T (p.Gly333=) rs149759095 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001126049.2(KLLN):c.-792C>T rs587779982 0.00044
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys) rs142879430 0.00044
NM_001282933.2(ZNF341):c.2560G>A (p.Glu854Lys) rs145996048 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser) rs149764323 0.00044
NM_001354930.2(RIPK1):c.82T>C (p.Phe28Leu) rs146652253 0.00044
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp) rs143538561 0.00044
NM_001903.5(CTNNA1):c.1782C>T (p.Ala594=) rs142503438 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_002204.4(ITGA3):c.1825-15C>T rs200189464 0.00044
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_006073.4(TRDN):c.611-19A>T rs142018848 0.00044
NM_006514.4(SCN10A):c.2842G>C (p.Val948Leu) rs145694222 0.00044
NM_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) rs146278697 0.00044
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269 0.00044
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00044
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=) rs201793869 0.00044
NM_017649.5(CNNM2):c.903C>T (p.Tyr301=) rs140279763 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_017950.4(CCDC40):c.552G>A (p.Leu184=) rs141588728 0.00044
NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr) rs143296441 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile) rs150460384 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_144585.4(SLC22A12):c.1612G>A (p.Ala538Thr) rs199535450 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu) rs142726001 0.00044
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000156.5(GAMT):c.-78C>T rs886054249 0.00043
NM_000156.5(GAMT):c.-79G>A rs966975299 0.00043
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000379.4(XDH):c.793+19G>A rs45625137 0.00043
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_001042413.2(GLIS3):c.287C>T (p.Pro96Leu) rs143425492 0.00043
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile) rs374351807 0.00043
NM_001358921.2(COQ2):c.625T>C (p.Leu209=) rs367968754 0.00043
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00043
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=) rs546670307 0.00043
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_001572.5(IRF7):c.392G>A (p.Arg131Gln) rs201036875 0.00043
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) rs17855420 0.00043
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_004998.4(MYO1E):c.1530+14C>T rs116371817 0.00043
NM_004998.4(MYO1E):c.2878+19G>A rs200710336 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) rs202228712 0.00043
NM_006005.3(WFS1):c.2085C>T (p.Gly695=) rs150568382 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_012301.4(MAGI2):c.3706+12G>A rs183407324 0.00043
NM_013322.3(SNX10):c.212+4A>T rs183941048 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_015909.4(NBAS):c.5596G>A (p.Val1866Ile) rs574477358 0.00043
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) rs147701543 0.00043
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018979.4(WNK1):c.6528C>T (p.Ser2176=) rs146574444 0.00043
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His) rs147773599 0.00043
NM_020381.4(PDSS2):c.877-20C>T rs138097933 0.00043
NM_021098.3(CACNA1H):c.4476+15C>T rs201891003 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe) rs140201502 0.00043
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe) rs143396070 0.00043
NM_138694.4(PKHD1):c.11310+13A>G rs191991777 0.00043
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) rs146403660 0.00042
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) rs138262189 0.00042
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser) rs138350940 0.00042
NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr) rs762460746 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) rs774205809 0.00042
NM_001735.3(C5):c.4785C>T (p.Asp1595=) rs79033710 0.00042
NM_004069.6(AP2S1):c.261C>T (p.Phe87=) rs151335841 0.00042
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_004646.4(NPHS1):c.246G>A (p.Arg82=) rs369681703 0.00042
NM_004646.4(NPHS1):c.699C>T (p.Thr233=) rs144398621 0.00042
NM_004937.3(CTNS):c.562-20T>C rs764063960 0.00042
NM_005506.4(SCARB2):c.276-7C>G rs200507087 0.00042
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu) rs138384561 0.00042
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021 0.00042
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_017570.5(OPLAH):c.158G>A (p.Arg53His) rs370049811 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg) rs200807189 0.00042
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_020831.6(MRTFA):c.2023G>A (p.Val675Met) rs749760507 0.00042
NM_021098.3(CACNA1H):c.3845+11C>T rs58080058 0.00042
NM_021828.5(HPSE2):c.573G>A (p.Glu191=) rs148098032 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_173551.5(ANKS6):c.609C>T (p.His203=) rs372936113 0.00042
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000064.4(C3):c.1452G>A (p.Glu484=) rs146594928 0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=) rs148182019 0.00041
NM_000091.5(COL4A3):c.21C>A (p.Pro7=) rs530353117 0.00041
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) rs140577812 0.00041
NM_000219.6(KCNE1):c.-334G>A rs891779914 0.00041
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_000379.4(XDH):c.463C>A (p.Pro155Thr) rs145413551 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg) rs146404747 0.00041
NM_000785.4(CYP27B1):c.690G>A (p.Val230=) rs61734540 0.00041
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) rs201262483 0.00041
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001041.4(SI):c.2737G>T (p.Val913Phe) rs200328496 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) rs149448320 0.00041
NM_001963.6(EGF):c.978C>T (p.Ser326=) rs145706760 0.00041
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_002296.4(LBR):c.1315-13T>C rs201793983 0.00041
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002661.5(PLCG2):c.2054+11G>C rs372245323 0.00041
NM_002666.5(PLIN1):c.269T>C (p.Leu90Pro) rs139271800 0.00041
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833 0.00041
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr) rs387907405 0.00041
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) rs112622137 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_004482.4(GALNT3):c.189G>A (p.Leu63=) rs188814778 0.00041
NM_004924.6(ACTN4):c.2011-5C>T rs372743117 0.00041
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398 0.00041
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu) rs201249840 0.00041
NM_006785.4(MALT1):c.824A>G (p.Tyr275Cys) rs145169756 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_014956.5(CEP164):c.1409+10G>A rs199783386 0.00041
NM_014956.5(CEP164):c.2617-13A>G rs372968944 0.00041
NM_014967.5(FAN1):c.174G>A (p.Arg58=) rs143965941 0.00041
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) rs138522309 0.00041
NM_015158.5(KANK1):c.93C>T (p.Tyr31=) rs151056048 0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 0.00041
NM_017433.5(MYO3A):c.113T>C (p.Val38Ala) rs144518447 0.00041
NM_017662.5(TRPM6):c.1101A>C (p.Gln367His) rs143440493 0.00041
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_018192.4(P3H2):c.555G>T (p.Gln185His) rs117688924 0.00041
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) rs142747831 0.00041
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=) rs58304047 0.00041
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=) rs370805573 0.00041
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=) rs79829712 0.00041
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_032387.5(WNK4):c.1864-11T>C rs61755599 0.00041
NM_053025.4(MYLK):c.-228C>G rs886057869 0.00041
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_138281.3(DLX4):c.204C>T (p.Ser68=) rs200579401 0.00041
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) rs141811556 0.00041
NM_144573.4(NEXN):c.1785C>T (p.Asp595=) rs182998780 0.00041
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_174934.4(SCN4B):c.*2977A>G rs369720674 0.00041
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000278.5(PAX2):c.354C>T (p.Leu118=) rs142934523 0.00040
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) rs147566977 0.00040
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala) rs147874855 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001680.5(FXYD2):c.126C>T (p.Leu42=) rs144279659 0.00040
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_003183.6(ADAM17):c.2134-11T>C rs79715435 0.00040
NM_003477.3(PDHX):c.242-17C>T rs188930453 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_005633.4(SOS1):c.*4014T>C rs186738827 0.00040
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=) rs576579796 0.00040
NM_014000.3(VCL):c.*1659C>T rs1804893 0.00040
NM_014014.5(SNRNP200):c.982+10T>C rs371450437 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_021098.3(CACNA1H):c.1213-7G>A rs372752869 0.00040
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_212482.4(FN1):c.5164+14G>T rs186800160 0.00040
NM_212482.4(FN1):c.5532A>C (p.Arg1844=) rs149965879 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899 0.00039
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_001002295.2(GATA3):c.294C>T (p.Asp98=) rs144221016 0.00039
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001144967.3(NEDD4L):c.1833+17T>C rs189511948 0.00039
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=) rs199701166 0.00039
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn) rs140655598 0.00039
NM_001365276.2(TNXB):c.8468-1G>A rs200718357 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=) rs149126243 0.00039
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr) rs199695154 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_001845.6(COL4A1):c.1084+19T>C rs542492789 0.00039
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) rs141958404 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_001943.5(DSG2):c.*211A>G rs555912274 0.00039
NM_001943.5(DSG2):c.121C>A (p.His41Asn) rs201499704 0.00039
NM_002204.4(ITGA3):c.234C>T (p.Leu78=) rs112180126 0.00039
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_002335.4(LRP5):c.2763C>T (p.Pro921=) rs147158768 0.00039
NM_002335.4(LRP5):c.4000+11C>G rs367615138 0.00039
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_004357.5(CD151):c.456+9G>A rs375059668 0.00039
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) rs149439760 0.00039
NM_005378.6(MYCN):c.18G>A (p.Thr6=) rs199929021 0.00039
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu) rs142235256 0.00039
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=) rs140675498 0.00039
NM_012120.3(CD2AP):c.636A>T (p.Arg212=) rs146010044 0.00039
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile) rs201877419 0.00039
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015102.5(NPHP4):c.117C>T (p.Asp39=) rs368118106 0.00039
NM_016335.6(PRODH):c.1170C>T (p.Ile390=) rs552700874 0.00039
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln) rs149778130 0.00039
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser) rs878855039 0.00039
NM_017947.4(MOCOS):c.2254C>T (p.Arg752Trp) rs143831554 0.00039
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) rs201382399 0.00039
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_030761.5(WNT4):c.96G>A (p.Ser32=) rs144407094 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys) rs143049136 0.00039
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_198282.4(STING1):c.760-9C>A rs200232916 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000337.6(SGCD):c.*440G>A rs535200914 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr) rs554966392 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala) rs150778949 0.00038
NM_000787.4(DBH):c.253G>A (p.Val85Ile) rs78445536 0.00038
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001048166.1(STIL):c.467A>G (p.His156Arg) rs141352790 0.00038
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) rs142236686 0.00038
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745 0.00038
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln) rs200443293 0.00038
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001942.4(DSG1):c.3133G>A (p.Val1045Met) rs140838956 0.00038
NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro) rs141919625 0.00038
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln) rs148001159 0.00038
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_004239.4(TRIP11):c.-333G>A rs559266963 0.00038
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004357.5(CD151):c.328C>G (p.Leu110Val) rs146079952 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006268.5(DPF2):c.302-11C>T rs373181445 0.00038
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys) rs201133838 0.00038
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser) rs372234258 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His) rs116930509 0.00038
NM_015627.3(LDLRAP1):c.626C>T (p.Thr209Ile) rs141522360 0.00038
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020987.5(ANK3):c.7928A>G (p.Asn2643Ser) rs139972937 0.00038
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975 0.00038
NM_022042.4(SLC26A1):c.1286C>T (p.Ala429Val) rs139142520 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_024666.5(AAGAB):c.415G>A (p.Val139Ile) rs138601241 0.00038
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_032551.5(KISS1R):c.18G>A (p.Thr6=) rs755924784 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_133497.4(KCNV2):c.16G>C (p.Glu6Gln) rs143189186 0.00038
NM_152743.4(BRAT1):c.883A>G (p.Met295Val) rs151317339 0.00038
NM_182760.4(SUMF1):c.212C>T (p.Ser71Leu) rs375739887 0.00038
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) rs76890302 0.00038
NM_203290.4(POLR1C):c.116C>T (p.Ala39Val) rs148236144 0.00038
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00037
NM_000096.4(CP):c.1501A>C (p.Ser501Arg) rs139756428 0.00037
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_000789.4(ACE):c.3363T>C (p.Ser1121=) rs200201337 0.00037
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000944.5(PPP3CA):c.384+18C>T rs3730253 0.00037
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met) rs762412163 0.00037
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001199799.2(ILDR1):c.1184T>C (p.Leu395Ser) rs143311654 0.00037
NM_001375978.1(CHRM3):c.328C>T (p.Leu110=) rs111407169 0.00037
NM_001395891.1(CLASP1):c.196-620C>T rs377619732 0.00037
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00037
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_003647.3(DGKE):c.744+17A>T rs375002513 0.00037
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366 0.00037
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_014140.4(SMARCAL1):c.1851+14C>G rs369856866 0.00037
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu) rs192918926 0.00037
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879 0.00037
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=) rs140914046 0.00037
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_016335.6(PRODH):c.1104+16C>T rs182795102 0.00037
NM_017662.5(TRPM6):c.4591C>T (p.Arg1531Cys) rs141526694 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_032901.4(COX14):c.-8-14A>G rs200753288 0.00037
NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu) rs148581002 0.00037
NM_144997.7(FLCN):c.619-20C>T rs202217257 0.00037
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_177924.5(ASAH1):c.1041+19C>A rs17126194 0.00037
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) rs369011394 0.00037
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891 0.00037
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000090.4(COL3A1):c.*467T>A rs886055341 0.00036
NM_000122.2(ERCC3):c.1730+16T>G rs202086538 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00036
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000258.3(MYL3):c.*112C>A rs546968708 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00036
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln) rs753359659 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_000406.3(GNRHR):c.-8G>A rs199976279 0.00036
NM_000428.3(LTBP2):c.2758G>A (p.Ala920Thr) rs137914200 0.00036
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) rs144970068 0.00036
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660 0.00036
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr) rs141086188 0.00036
NM_000940.3(PON3):c.496G>A (p.Val166Met) rs201544566 0.00036
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) rs148388565 0.00036
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln) rs77129269 0.00036
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) rs145905162 0.00036
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala) rs78895258 0.00036
NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) rs186335243 0.00036
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.4368-1519A>G rs532994771 0.00036
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001440.4(EXTL3):c.1519G>T (p.Ala507Ser) rs200367738 0.00036
NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr) rs8061302 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001942.4(DSG1):c.1615T>G (p.Leu539Val) rs140327039 0.00036
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_002437.5(MPV17):c.180C>A (p.Gly60=) rs377148388 0.00036
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_003661.4(APOL1):c.797T>G (p.Leu266Arg) rs142955744 0.00036
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004357.5(CD151):c.241G>A (p.Ala81Thr) rs141569440 0.00036
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_004407.4(DMP1):c.1255C>T (p.Pro419Ser) rs140275311 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser) rs138612549 0.00036
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005981.5(TSPAN31):c.*989C>A rs763088789 0.00036
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) rs143097871 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr) rs140251976 0.00036
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu) rs201309011 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_014798.3(PLEKHM1):c.1348C>A (p.Pro450Thr) rs144621291 0.00036
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=) rs375796182 0.00036
NM_015102.5(NPHP4):c.3161G>A (p.Arg1054His) rs369950850 0.00036
NM_015158.5(KANK1):c.561T>C (p.Phe187=) rs139983081 0.00036
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr) rs370003523 0.00036
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_022455.5(NSD1):c.4379-15A>G rs143520065 0.00036
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val) rs201569048 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val) rs566584111 0.00036
NM_033004.4(NLRP1):c.272-7C>G rs202080927 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_152866.3(MS4A1):c.352A>C (p.Ile118Leu) rs201245387 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_173551.5(ANKS6):c.1219+18A>T rs372791631 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000091.5(COL4A3):c.2489-18T>A rs79573480 0.00035
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu) rs146500584 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=) rs201720181 0.00035
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr) rs535815566 0.00035
NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) rs377466529 0.00035
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_002661.5(PLCG2):c.1959C>T (p.Arg653=) rs117835631 0.00035
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) rs201556221 0.00035
NM_003356.4(UCP3):c.356G>A (p.Arg119Gln) rs17848372 0.00035
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=) rs145777568 0.00035
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00035
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004621.6(TRPC6):c.948T>C (p.Asn316=) rs139477687 0.00035
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005751.5(AKAP9):c.-160G>A rs764753013 0.00035
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=) rs144587694 0.00035
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00035
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) rs143617877 0.00035
NM_016239.4(MYO15A):c.-144G>A rs751602395 0.00035
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His) rs201401363 0.00035
NM_017662.5(TRPM6):c.4719G>A (p.Ala1573=) rs41304234 0.00035
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018417.6(ADCY10):c.2406G>A (p.Leu802=) rs201086008 0.00035
NM_020632.3(ATP6V0A4):c.2046G>C (p.Glu682Asp) rs147889261 0.00035
NM_020975.6(RET):c.2939+13T>C rs149417158 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00035
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_173551.5(ANKS6):c.2143-15T>C rs376048873 0.00035
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp) rs138780308 0.00035
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_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00034
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000067.3(CA2):c.139C>T (p.Leu47=) rs145096347 0.00034
NM_000067.3(CA2):c.549C>G (p.Leu183=) rs151021025 0.00034
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys) rs144557024 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000210.4(ITGA6):c.201G>A (p.Pro67=) rs143545213 0.00034
NM_000213.5(ITGB4):c.469+5G>A rs141369871 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848 0.00034
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00034
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000444.6(PHEX):c.996C>T (p.Asp332=) rs139749399 0.00034
NM_000479.5(AMH):c.802A>G (p.Thr268Ala) rs201324658 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) rs143211108 0.00034
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715 0.00034
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=) rs113012271 0.00034
NM_001003841.3(SLC6A19):c.481+12C>G rs370624507 0.00034
NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=) rs141911612 0.00034
NM_001003841.3(SLC6A19):c.887+8C>T rs375506845 0.00034
NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu) rs368643450 0.00034
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) rs138062179 0.00034
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_001013838.3(CARMIL2):c.1509+14C>A rs200523413 0.00034
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala) rs113591099 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001171.6(ABCC6):c.3507-15C>T rs374776435 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001282225.2(ADA2):c.1423C>T (p.Leu475=) rs138076444 0.00034
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001555.5(IGSF1):c.1141A>C (p.Asn381His) rs6637826 0.00034
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_002204.4(ITGA3):c.1537+16C>T rs368911903 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_003242.6(TGFBR2):c.-193G>A rs886058301 0.00034
NM_003673.4(TCAP):c.*297C>T rs772638575 0.00034
NM_004268.5(MED17):c.1328+16G>A rs200391569 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) rs148612649 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=) rs147922933 0.00034
NM_004998.4(MYO1E):c.2335-13C>T rs775751894 0.00034
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn) rs141983717 0.00034
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser) rs139886717 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) rs149010855 0.00034
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_014625.4(NPHS2):c.534+13A>T rs192539858 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015077.4(SARM1):c.1924-667G>A rs184621509 0.00034
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=) rs200183657 0.00034
NM_015102.5(NPHP4):c.3859C>G (p.Gln1287Glu) rs201779243 0.00034
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553 0.00034
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) rs146130179 0.00034
NM_015158.5(KANK1):c.3005+9A>T rs184585076 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017534.6(MYH2):c.2304+7T>G rs370223713 0.00034
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060 0.00034
NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr) rs75800852 0.00034
NM_017662.5(TRPM6):c.5481C>T (p.Cys1827=) rs150963618 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_018417.6(ADCY10):c.3429T>C (p.Asn1143=) rs149920420 0.00034
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) rs149049198 0.00034
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_021828.5(HPSE2):c.1099-9T>C rs376566722 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_030787.4(CFHR5):c.465T>C (p.Asn155=) rs139260377 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_032119.4(ADGRV1):c.208-4A>G rs374070113 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_033028.5(BBS4):c.24+18C>G rs368789560 0.00034
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_176824.3(BBS7):c.165+16T>C rs371497491 0.00034
NM_182916.3(TRNT1):c.343-14G>A rs373630283 0.00034
NM_198076.6(COX20):c.340G>A (p.Gly114Ser) rs141476240 0.00034
NM_198252.3(GSN):c.197-4G>A rs375172023 0.00034
NM_212482.4(FN1):c.1676-9G>A rs372339259 0.00034
NM_213607.3(CCDC103):c.104G>A (p.Arg35Gln) rs587783065 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys) rs140240214 0.00033
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000785.4(CYP27B1):c.1216-18T>G rs188819808 0.00033
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) rs146553433 0.00033
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001041.4(SI):c.4268-12G>C rs200234624 0.00033
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001256071.3(RNF213):c.12648G>A (p.Glu4216=) rs146731742 0.00033
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys) rs116995413 0.00033
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=) rs373107801 0.00033
NM_001458.5(FLNC):c.3964+9C>T rs200448727 0.00033
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) rs201919534 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002661.5(PLCG2):c.1419C>T (p.Asp473=) rs372678135 0.00033
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) rs200365973 0.00033
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_004826.4(ECEL1):c.411C>T (p.Arg137=) rs376256094 0.00033
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=) rs377401079 0.00033
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) rs146493523 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp) rs202192818 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_006662.3(SRCAP):c.492+11C>T rs192794742 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_015102.5(NPHP4):c.2714G>A (p.Ser905Asn) rs368298952 0.00033
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) rs146809464 0.00033
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_018979.4(WNK1):c.3699G>A (p.Ala1233=) rs147752204 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_020987.5(ANK3):c.6067G>A (p.Ala2023Thr) rs146929899 0.00033
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_021098.3(CACNA1H):c.3846-16G>A rs764918796 0.00033
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_032387.5(WNK4):c.1572G>T (p.Leu524=) rs144084546 0.00033
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100 0.00033
NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala) rs56008408 0.00033
NM_144585.4(SLC22A12):c.391A>G (p.Ile131Val) rs150428327 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys) rs145362501 0.00033
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_000039.3(APOA1):c.315C>T (p.Gly105=) rs148950234 0.00032
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000213.5(ITGB4):c.1281G>A (p.Pro427=) rs150638695 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000428.3(LTBP2):c.587A>G (p.Gln196Arg) rs374099324 0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys) rs140738368 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys) rs142947404 0.00032
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001042475.3(CEP85L):c.1020+6034A>G rs117280667 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001134363.3(RBM20):c.*2148G>A rs886046717 0.00032
NM_001204.7(BMPR2):c.*5624A>G rs570949250 0.00032
NM_001204.7(BMPR2):c.-434G>A rs766982703 0.00032
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988 0.00032
NM_001734.5(C1S):c.979G>C (p.Val327Leu) rs2239170 0.00032
NM_002204.4(ITGA3):c.222C>T (p.Ala74=) rs201984415 0.00032
NM_002335.4(LRP5):c.1248C>T (p.Asn416=) rs149682423 0.00032
NM_002335.4(LRP5):c.2226C>T (p.Ile742=) rs147932332 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002661.5(PLCG2):c.3198+20C>G rs141049260 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_003476.5(CSRP3):c.*415A>G rs180844111 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_004048.4(B2M):c.68-13C>T rs149900092 0.00032
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser) rs151023145 0.00032
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) rs141577636 0.00032
NM_004924.6(ACTN4):c.297G>A (p.Pro99=) rs144919593 0.00032
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342 0.00032
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln) rs200697103 0.00032
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile) rs151303346 0.00032
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu) rs201670251 0.00032
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) rs147473528 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) rs149894438 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp) rs148916767 0.00032
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys) rs373994193 0.00032
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=) rs140829723 0.00032
NM_053025.4(MYLK):c.*1191T>C rs756047939 0.00032
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val) rs149958269 0.00032
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu) rs200691357 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr) rs111850950 0.00031
NM_000313.4(PROS1):c.-135C>T rs750502941 0.00031
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000479.5(AMH):c.808C>T (p.Pro270Ser) rs757506343 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=) rs138545856 0.00031
NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=) rs147405344 0.00031
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205 0.00031
NM_000875.5(IGF1R):c.4058G>A (p.Arg1353His) rs149470389 0.00031
NM_000901.5(NR3C2):c.1398T>C (p.Tyr466=) rs5524 0.00031
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp) rs141068956 0.00031
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00031
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001040108.2(MLH3):c.4011+15T>G rs139032600 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) rs200226048 0.00031
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr) rs139780924 0.00031
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr) rs201113371 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_001288705.3(CSF1R):c.1510+16C>T rs200626267 0.00031
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) rs144139818 0.00031
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) rs201285077 0.00031
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202 0.00031
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=) rs5743280 0.00031
NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr) rs528391043 0.00031
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_001384732.1(CPLANE1):c.3150-12A>G rs755478099 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_002016.2(FLG):c.2067T>C (p.Ser689=) rs138782580 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_002246.3(KCNK3):c.1014G>A (p.Thr338=) rs375930383 0.00031
NM_002335.4(LRP5):c.2503+10G>A rs191125304 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00031
NM_003356.4(UCP3):c.72C>T (p.Ala24=) rs70965455 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) rs147661219 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_004329.3(BMPR1A):c.*487A>G rs886047362 0.00031
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) rs150970767 0.00031
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser) rs200148127 0.00031
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005477.3(HCN4):c.*1598A>G rs749289571 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) rs146875945 0.00031
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00031
NM_006258.4(PRKG1):c.1002-10C>T rs374171830 0.00031
NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys) rs151053652 0.00031
NM_006514.4(SCN10A):c.3291C>G (p.Ile1097Met) rs148041371 0.00031
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=) rs202092944 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe) rs199827754 0.00031
NM_014317.5(PDSS1):c.130-18T>C rs375014698 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014625.4(NPHS2):c.144C>T (p.Ser48=) rs111306764 0.00031
NM_015102.5(NPHP4):c.2305-20C>T rs373131898 0.00031
NM_015102.5(NPHP4):c.3110A>C (p.Glu1037Ala) rs200310448 0.00031
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) rs137918238 0.00031
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) rs148027754 0.00031
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) rs143880438 0.00031
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) rs199697328 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_018685.5(ANLN):c.173-16A>G rs181560875 0.00031
NM_018979.4(WNK1):c.5510-13G>A rs372263017 0.00031
NM_020433.5(JPH2):c.1566G>A (p.Arg522=) rs559143345 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.3745-17G>A rs201602467 0.00031
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=) rs368284672 0.00031
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) rs150498691 0.00031
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_025074.7(FRAS1):c.396G>A (p.Pro132=) rs370747359 0.00031
NM_025074.7(FRAS1):c.7344C>T (p.Leu2448=) rs201842464 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_032340.4(UQCC2):c.112G>A (p.Ala38Thr) rs200180350 0.00031
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly) rs137935071 0.00031
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val) rs149586047 0.00031
NM_138413.4(HOGA1):c.603+19G>A rs370990433 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_173551.5(ANKS6):c.498C>T (p.Ala166=) rs374209515 0.00031
NM_174934.4(SCN4B):c.*2196G>A rs769472607 0.00031
NM_177559.3(CSNK2A1):c.1061-9T>C rs371565154 0.00031
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_212482.4(FN1):c.1860G>A (p.Pro620=) rs147845471 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr) rs148815652 0.00030
NM_000251.3(MSH2):c.1661+11C>T rs377154011 0.00030
NM_000337.6(SGCD):c.*6186C>T rs559185520 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000789.4(ACE):c.3691+10C>T rs556274739 0.00030
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_001035.3(RYR2):c.1292+19G>A rs368198276 0.00030
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=) rs190573592 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His) rs867020397 0.00030
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_001366385.1(CARD14):c.2209A>C (p.Asn737His) rs535171797 0.00030
NM_001370595.2(COA8):c.101G>T (p.Arg34Leu) rs534048581 0.00030
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu) rs201187772 0.00030
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347 0.00030
NM_001845.6(COL4A1):c.387+14C>T rs190238481 0.00030
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met) rs200226020 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002661.5(PLCG2):c.2739+8C>A rs201659233 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=) rs146652440 0.00030
NM_005477.3(HCN4):c.561T>C (p.Ala187=) rs375206856 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp) rs145712124 0.00030
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=) rs150187491 0.00030
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp) rs141497857 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=) rs151159565 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_015158.5(KANK1):c.3554-5_3554-4insTA rs1554721659 0.00030
NM_015158.5(KANK1):c.9C>T (p.His3=) rs144137079 0.00030
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_016356.5(DCDC2):c.478A>C (p.Arg160=) rs201204772 0.00030
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_017565.4(FAM20A):c.513T>C (p.His171=) rs181817943 0.00030
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_018417.6(ADCY10):c.4424A>G (p.Gln1475Arg) rs199702241 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_021098.3(CACNA1H):c.4566+18G>A rs376034289 0.00030
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_032387.5(WNK4):c.47C>T (p.Thr16Ile) rs61754325 0.00030
NM_032436.4(CHAMP1):c.926C>T (p.Pro309Leu) rs142271038 0.00030
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=) rs372838090 0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000147.4(FUCA1):c.-44G>A rs139832548 0.00029
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000213.5(ITGB4):c.2070C>T (p.Gly690=) rs140265734 0.00029
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala) rs183705877 0.00029
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=) rs139146525 0.00029
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000243.3(MEFV):c.231C>A (p.Ile77=) rs139899201 0.00029
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000258.3(MYL3):c.307+16G>A rs759754750 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000313.3(PROS1):c.-261C>T rs886058930 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) rs148235835 0.00029
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000479.5(AMH):c.295A>T (p.Thr99Ser) rs200226465 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000488.4(SERPINC1):c.-57G>A rs372524963 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_001002295.2(GATA3):c.375C>T (p.Gly125=) rs142451494 0.00029
NM_001008388.5(CISD2):c.240G>A (p.Pro80=) rs375529885 0.00029
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001023570.4(IQCB1):c.987-17C>T rs187649158 0.00029
NM_001036.6(RYR3):c.13045G>T (p.Asp4349Tyr) rs199964506 0.00029
NM_001042475.3(CEP85L):c.1020+17275G>C rs188578681 0.00029
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001113525.2(ZNF276):c.*211C>G rs575606938 0.00029
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=) rs150457139 0.00029
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740 0.00029
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn) rs45608232 0.00029
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) rs139469741 0.00029
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=) rs141637807 0.00029
NM_001354483.2(CSGALNACT1):c.397G>A (p.Val133Met) rs377493563 0.00029
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001378454.1(ALMS1):c.9781+19del rs751238172 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001735.3(C5):c.1929C>G (p.Ala643=) rs56371452 0.00029
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001853.4(COL9A3):c.346-19C>T rs199940406 0.00029
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met) rs142326016 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002234.4(KCNA5):c.260G>A (p.Arg87Gln) rs71537801 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_002506.3(NGF):c.247C>T (p.Arg83Cys) rs138175552 0.00029
NM_002661.5(PLCG2):c.2655G>A (p.Pro885=) rs187441573 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln) rs201831565 0.00029
NM_003238.6(TGFB2):c.-96C>A rs1004111898 0.00029
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_004525.3(LRP2):c.80-13T>C rs201879092 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup) rs778276152 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005051.3(QARS1):c.83C>A (p.Ala28Asp) rs148998142 0.00029
NM_005188.3(CBL):c.-122C>T rs886047765 0.00029
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) rs146598030 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745 0.00029
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr) rs200713724 0.00029
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 0.00029
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_014140.4(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336 0.00029
NM_014140.4(SMARCAL1):c.270C>T (p.His90=) rs150591090 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=) rs149964584 0.00029
NM_015512.5(DNAH1):c.3836A>G (p.Lys1279Arg) rs142595873 0.00029
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729 0.00029
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) rs199907923 0.00029
NM_017649.5(CNNM2):c.342G>T (p.Thr114=) rs375416482 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017780.4(CHD7):c.3989+9C>T rs373206209 0.00029
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) rs188679907 0.00029
NM_017827.4(SARS2):c.17C>T (p.Ala6Val) rs201988841 0.00029
NM_017947.4(MOCOS):c.686C>T (p.Thr229Met) rs141623345 0.00029
NM_017947.4(MOCOS):c.790A>G (p.Lys264Glu) rs148137052 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) rs538959856 0.00029
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024514.5(CYP2R1):c.225+10C>T rs375228883 0.00029
NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg) rs376441206 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_031885.5(BBS2):c.-2T>G rs111296910 0.00029
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val) rs150706579 0.00029
NM_033124.5(CCDC65):c.326C>T (p.Ala109Val) rs139828323 0.00029
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) rs370190691 0.00029
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val) rs199574440 0.00029
NM_145045.5(ODAD3):c.707A>G (p.Tyr236Cys) rs200305902 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_173689.7(CRB2):c.2821G>A (p.Gly941Ser) rs780391222 0.00029
NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr) rs200123093 0.00029
NM_182476.3(COQ6):c.986G>A (p.Arg329His) rs147273831 0.00029
NM_201384.3(PLEC):c.2719C>T (p.Arg907Cys) rs201386370 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr) rs200983871 0.00029
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000337.6(SGCD):c.*7559G>C rs751653849 0.00028
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) rs374154973 0.00028
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) rs201643562 0.00028
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001282684.2(KCTD17):c.853C>T (p.Arg285Cys) rs199921196 0.00028
NM_001349206.2(LPIN1):c.2331C>T (p.Asn777=) rs150857974 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001378414.1(HDAC4):c.1534-9G>A rs375265585 0.00028
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001927.4(DES):c.640-16G>A rs181712657 0.00028
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00028
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924 0.00028
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser) rs778523009 0.00028
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser) rs28369373 0.00028
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_006785.4(MALT1):c.446G>A (p.Arg149Gln) rs147414021 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841 0.00028
NM_014967.5(FAN1):c.1350G>A (p.Leu450=) rs138954416 0.00028
NM_015102.5(NPHP4):c.1286G>C (p.Ser429Thr) rs202199543 0.00028
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) rs147714853 0.00028
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=) rs200018716 0.00028
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr) rs112149155 0.00028
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_025074.7(FRAS1):c.10649-18T>C rs183886250 0.00028
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys) rs201847585 0.00028
NM_053025.4(MYLK):c.-229C>T rs1040685992 0.00028
NM_138694.4(PKHD1):c.8174-19A>T rs758233215 0.00028
NM_152383.5(DIS3L2):c.301G>T (p.Ala101Ser) rs199857926 0.00028
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg) rs142129866 0.00028
NM_182978.4(GNAL):c.540A>G (p.Pro180=) rs182262644 0.00028
NM_198428.3(BBS9):c.2115+20C>T rs779186804 0.00028
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) rs782666455 0.00028
NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln) rs181096841 0.00028
NM_213655.5(WNK1):c.3358G>T (p.Val1120Leu) rs150113638 0.00028
NM_000054.7(AVPR2):c.252C>T (p.Ala84=) rs370880911 0.00027
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_000064.4(C3):c.3855C>T (p.Asp1285=) rs142359391 0.00027
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000337.6(SGCD):c.*2797A>T rs771116351 0.00027
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu) rs536874549 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_001002295.2(GATA3):c.330C>T (p.Ser110=) rs111978415 0.00027
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001042413.2(GLIS3):c.2060C>T (p.Ser687Phe) rs374929970 0.00027
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly) rs138438183 0.00027
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001177316.2(SLC34A3):c.1765G>A (p.Glu589Lys) rs376700316 0.00027
NM_001177316.2(SLC34A3):c.799A>C (p.Thr267Pro) rs145899150 0.00027
NM_001204.7(BMPR2):c.549T>C (p.Leu183=) rs142769493 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001277115.2(DNAH11):c.6264C>T (p.Pro2088=) rs187936691 0.00027
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_001395656.1(ROBO2):c.3888G>A (p.Lys1296=) rs200933374 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) rs141543499 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002661.5(PLCG2):c.648+12C>G rs145838332 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_003049.4(SLC10A1):c.122C>T (p.Ser41Leu) rs111885789 0.00027
NM_003072.5(SMARCA4):c.1245+18C>T rs376247014 0.00027
NM_003401.5(XRCC4):c.894-13T>G rs369970969 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) rs137978189 0.00027
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) rs140925226 0.00027
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_005515.4(MNX1):c.402T>C (p.Ala134=) rs1241330496 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_006514.4(SCN10A):c.2106+8C>T rs368212766 0.00027
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) rs201992088 0.00027
NM_014000.3(VCL):c.*1285C>T rs879813349 0.00027
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_016492.5(RANGRF):c.77+5G>A rs369372561 0.00027
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val) rs202100905 0.00027
NM_017947.4(MOCOS):c.726C>T (p.Tyr242=) rs61739904 0.00027
NM_020632.3(ATP6V0A4):c.1030-18T>C rs769523748 0.00027
NM_020632.3(ATP6V0A4):c.881C>T (p.Ser294Phe) rs144697860 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_021098.3(CACNA1H):c.2003-5C>T rs369119012 0.00027
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
NM_022168.4(IFIH1):c.2304+3A>G rs376806735 0.00027
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn) rs200203389 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_030667.3(PTPRO):c.661+9C>T rs191278870 0.00027
NM_031885.5(BBS2):c.534+20T>C rs369579609 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_130797.4(DPP6):c.58G>A (p.Ala20Thr) rs2533731 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_178335.3(CCDC50):c.227G>A (p.Arg76His) rs138443787 0.00027
NM_212482.4(FN1):c.2713+20A>G rs368435928 0.00027
NM_000029.4(AGT):c.1301C>T (p.Ala434Val) rs61751076 0.00026
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=) rs149889029 0.00026
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000234.3(LIG1):c.2014C>T (p.Arg672Cys) rs55950593 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
NM_000281.4(PCBD1):c.57C>T (p.Asn19=) rs114265283 0.00026
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) rs141436752 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000490.5(AVP):c.127C>G (p.Pro43Ala) rs539928673 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val) rs139498212 0.00026
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_000944.5(PPP3CA):c.87T>A (p.Leu29=) rs200922134 0.00026
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001041.4(SI):c.322T>G (p.Phe108Val) rs146006371 0.00026
NM_001042413.2(GLIS3):c.2421C>G (p.Ser807=) rs563920093 0.00026
NM_001042413.2(GLIS3):c.82A>G (p.Ile28Val) rs113754532 0.00026
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=) rs138341229 0.00026
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00026
NM_001144967.3(NEDD4L):c.1403G>A (p.Arg468Gln) rs200221331 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001171.6(ABCC6):c.3507-17G>A rs58571995 0.00026
NM_001174147.2(LMX1B):c.327-17G>A rs372620265 0.00026
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val) rs138943609 0.00026
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001273.5(CHD4):c.5529C>T (p.Asn1843=) rs201751048 0.00026
NM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn) rs145608684 0.00026
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=) rs186110059 0.00026
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001367561.1(DOCK7):c.2908A>G (p.Ser970Gly) rs199681303 0.00026
NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln) rs184913582 0.00026
NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=) rs139780487 0.00026
NM_001377142.1(PLCB4):c.3122A>G (p.Asn1041Ser) rs147312767 0.00026
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320 0.00026
NM_001482.3(GATM):c.484+19C>T rs374556262 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala) rs144324168 0.00026
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu) rs148491867 0.00026
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile) rs376553423 0.00026
NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp) rs201411811 0.00026
NM_002497.4(NEK2):c.863G>A (p.Arg288Gln) rs181112920 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_002661.5(PLCG2):c.2260G>C (p.Asp754His) rs190001915 0.00026
NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) rs374016016 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003401.5(XRCC4):c.139+7C>T rs373131654 0.00026
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003640.5(ELP1):c.3855+19G>A rs113767921 0.00026
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His) rs199774340 0.00026
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612 0.00026
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792 0.00026
NM_004407.4(DMP1):c.1502T>C (p.Ile501Thr) rs146762807 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004560.4(ROR2):c.*135G>T rs774621355 0.00026
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_004974.4(KCNA2):c.372G>A (p.Glu124=) rs200499541 0.00026
NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala) rs369774689 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005051.3(QARS1):c.2261A>G (p.Asp754Gly) rs142480574 0.00026
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp) rs201318945 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005612.5(REST):c.898+15C>T rs148949163 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) rs61757674 0.00026
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006030.4(CACNA2D2):c.2801A>G (p.Gln934Arg) rs191208192 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_006261.5(PROP1):c.335G>A (p.Arg112Gln) rs201266211 0.00026
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=) rs144028938 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 0.00026
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser) rs145154396 0.00026
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_015102.5(NPHP4):c.3385G>A (p.Val1129Met) rs372934556 0.00026
NM_015158.5(KANK1):c.2091C>T (p.Asn697=) rs34038073 0.00026
NM_015158.5(KANK1):c.2556C>T (p.Phe852=) rs149371668 0.00026
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser) rs199560640 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_015932.6(POMP):c.91C>T (p.Leu31Phe) rs138472024 0.00026
NM_017947.4(MOCOS):c.363G>A (p.Thr121=) rs376254012 0.00026
NM_018965.4(TREM2):c.451G>A (p.Glu151Lys) rs79011726 0.00026
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys) rs146474113 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) rs146065064 0.00026
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=) rs375590164 0.00026
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911 0.00026
NM_021098.3(CACNA1H):c.3745-18C>T rs570915422 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn) rs373074293 0.00026
NM_031885.5(BBS2):c.1623C>T (p.Gly541=) rs143951580 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln) rs200823152 0.00026
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu) rs148942084 0.00026
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser) rs139039113 0.00026
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg) rs145686832 0.00026
NM_033550.4(TP53RK):c.519C>G (p.Pro173=) rs141087837 0.00026
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_178170.3(NEK8):c.936G>A (p.Ser312=) rs146798411 0.00026
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val) rs139743343 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_198252.3(GSN):c.1563C>T (p.Ser521=) rs140414249 0.00026
NM_198252.3(GSN):c.285C>T (p.His95=) rs142155964 0.00026
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161 0.00026
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00026
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) rs546669133 0.00026
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) rs141539554 0.00026
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp) rs200898675 0.00026
NM_212482.4(FN1):c.1638C>T (p.Phe546=) rs368833093 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00025
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000361.3(THBD):c.302G>C (p.Arg101Pro) rs546519295 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001042492.3(NF1):c.61-19T>C rs185325140 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001136191.3(KANK2):c.1504G>A (p.Val502Met) rs147580567 0.00025
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu) rs145036630 0.00025
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001303.4(COX10):c.781G>T (p.Ala261Ser) rs138560674 0.00025
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys) rs372973695 0.00025
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu) rs374363627 0.00025
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala) rs374132023 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) rs200738080 0.00025
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His) rs146326783 0.00025
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) rs150465100 0.00025
NM_002292.4(LAMB2):c.915+16C>T rs376022767 0.00025
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_003764.4(STX11):c.228G>C (p.Met76Ile) rs141487068 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004621.6(TRPC6):c.-125C>T rs201034657 0.00025
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) rs117802902 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) rs150880212 0.00025
NM_005618.4(DLL1):c.1289G>A (p.Arg430His) rs372354902 0.00025
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00025
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn) rs142632541 0.00025
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_006015.6(ARID1A):c.1803+9T>C rs371726505 0.00025
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser) rs146999807 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_012452.3(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp) rs139225491 0.00025
NM_014956.5(CEP164):c.3610-4A>G rs111915712 0.00025
NM_015102.5(NPHP4):c.1114G>A (p.Gly372Ser) rs188020560 0.00025
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) rs114784029 0.00025
NM_015158.5(KANK1):c.1600G>A (p.Val534Met) rs112166059 0.00025
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_016356.5(DCDC2):c.349-15C>T rs200146922 0.00025
NM_017570.5(OPLAH):c.573C>G (p.Leu191=) rs375794631 0.00025
NM_017827.4(SARS2):c.91A>C (p.Arg31=) rs138274440 0.00025
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750 0.00025
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=) rs372975893 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu) rs201814961 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 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_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala) rs77579747 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00025
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly) rs145909750 0.00025
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7462+15G>C rs200420425 0.00025
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys) rs202172091 0.00025
NM_212482.4(FN1):c.2538G>A (p.Ser846=) rs145300210 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000170.3(GLDC):c.-31C>A rs964863986 0.00024
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000211.5(ITGB2):c.1697C>T (p.Pro566Leu) rs373223342 0.00024
NM_000213.5(ITGB4):c.2962+9G>C rs375133413 0.00024
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337 0.00024
NM_000278.5(PAX2):c.963C>T (p.His321=) rs138750534 0.00024
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000313.4(PROS1):c.*1103A>G rs779418455 0.00024
NM_000313.4(PROS1):c.*155T>A rs534064879 0.00024
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=) rs149362007 0.00024
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=) rs201568782 0.00024
NM_000944.5(PPP3CA):c.588G>A (p.Leu196=) rs142339019 0.00024
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00024
NM_001041.4(SI):c.2301+20T>G rs576773147 0.00024
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862 0.00024
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001148.6(ANK2):c.*1950C>A rs569519804 0.00024
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) rs199527708 0.00024
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001177316.2(SLC34A3):c.781A>G (p.Ser261Gly) rs201964796 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser) rs200366079 0.00024
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001267550.2(TTN):c.*141T>G rs781617834 0.00024
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) rs199864090 0.00024
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_001318510.2(ACSL4):c.68A>G (p.His23Arg) rs199837852 0.00024
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) rs200319996 0.00024
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993 0.00024
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr) rs201738475 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001486.4(GCKR):c.1433G>A (p.Arg478His) rs141361209 0.00024
NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys) rs145773738 0.00024
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu) rs76938320 0.00024
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile) rs142479732 0.00024
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu) rs556774863 0.00024
NM_003238.6(TGFB2):c.*45A>G rs769232186 0.00024
NM_003265.3(TLR3):c.176C>A (p.Thr59Asn) rs143307508 0.00024
NM_003401.5(XRCC4):c.483-15T>G rs199551802 0.00024
NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr) rs370434981 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003647.3(DGKE):c.625-13C>A rs189280031 0.00024
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_004074.3(COX8A):c.114+17G>A rs373910843 0.00024
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179 0.00024
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004357.5(CD151):c.616-17C>G rs199919101 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) rs147779149 0.00024
NM_004525.3(LRP2):c.13108+12G>A rs370126040 0.00024
NM_004525.3(LRP2):c.3075G>C (p.Gln1025His) rs374011295 0.00024
NM_004525.3(LRP2):c.652+4C>T rs192813501 0.00024
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) rs138666116 0.00024
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=) rs143282009 0.00024
NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=) rs138248740 0.00024
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_005378.6(MYCN):c.1380C>T (p.His460=) rs150023769 0.00024
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
NM_006005.3(WFS1):c.1419C>T (p.Ser473=) rs150997327 0.00024
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 0.00024
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val) rs369935740 0.00024
NM_006904.7(PRKDC):c.6206G>A (p.Arg2069Gln) rs201879882 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_007214.5(SEC63):c.574-20C>G rs369895256 0.00024
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_012301.4(MAGI2):c.411G>A (p.Thr137=) rs149568072 0.00024
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_014625.4(NPHS2):c.85G>A (p.Ala29Thr) rs561887984 0.00024
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) rs149196489 0.00024
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014956.5(CEP164):c.1152+16C>T rs375703035 0.00024
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_014967.5(FAN1):c.2862T>C (p.Cys954=) rs143428659 0.00024
NM_015102.5(NPHP4):c.1127C>T (p.Ser376Leu) rs372414566 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015102.5(NPHP4):c.419C>T (p.Pro140Leu) rs370837214 0.00024
NM_015102.5(NPHP4):c.790G>A (p.Val264Ile) rs772753780 0.00024
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) rs143675911 0.00024
NM_015158.5(KANK1):c.3696+8C>T rs373324342 0.00024
NM_015158.5(KANK1):c.857T>A (p.Val286Glu) rs114947217 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn) rs199605881 0.00024
NM_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_016341.4(PLCE1):c.6342+15G>A rs372816882 0.00024
NM_017491.5(WDR1):c.802G>A (p.Val268Met) rs181856199 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017947.4(MOCOS):c.2165-9C>T rs188625675 0.00024
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) rs370948871 0.00024
NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr) rs151250620 0.00024
NM_018979.4(WNK1):c.5583+16T>G rs369251741 0.00024
NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val) rs557222235 0.00024
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 0.00024
NM_020987.5(ANK3):c.4403G>A (p.Arg1468His) rs74777754 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=) rs368251427 0.00024
NM_022098.4(XPNPEP3):c.1357+19A>G rs139881907 0.00024
NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr) rs201807364 0.00024
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) rs375278138 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308 0.00024
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_031885.5(BBS2):c.1080+14C>T rs375468475 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800 0.00024
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr) rs140933016 0.00024
NM_032856.5(WDR73):c.596G>A (p.Arg199Gln) rs370037552 0.00024
NM_032856.5(WDR73):c.952C>T (p.Arg318Trp) rs373448317 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) rs150159842 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_138927.4(SON):c.3640C>T (p.Pro1214Ser) rs191169903 0.00024
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_144596.4(TTC8):c.909+18T>C rs111707320 0.00024
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) rs150931960 0.00024
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) rs770477104 0.00024
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) rs148976489 0.00024
NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln) rs368453150 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp) rs200375679 0.00024
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_000039.3(APOA1):c.555G>C (p.Thr185=) rs143182884 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000168.6(GLI3):c.30C>T (p.Thr10=) rs148154157 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000193.4(SHH):c.1178C>G (p.Ala393Gly) rs751239867 0.00023
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) rs199472870 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn) rs763880032 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000379.4(XDH):c.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534 0.00023
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) rs764636694 0.00023
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00023
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) rs149840771 0.00023
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys) rs200368819 0.00023
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln) rs142612379 0.00023
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro) rs374350634 0.00023
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys) rs145890763 0.00023
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001458.5(FLNC):c.1026C>T (p.Pro342=) rs200633995 0.00023
NM_001963.6(EGF):c.1919A>G (p.Asp640Gly) rs376974586 0.00023
NM_002878.4(RAD51D):c.434G>A (p.Arg145His) rs147264215 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_004074.3(COX8A):c.174C>A (p.Ile58=) rs11550240 0.00023
NM_004074.3(COX8A):c.93G>T (p.Pro31=) rs528113495 0.00023
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004371.4(COPA):c.2822G>A (p.Arg941Gln) rs368690601 0.00023
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) rs138177581 0.00023
NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile) rs547958010 0.00023
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg) rs375085754 0.00023
NM_014956.5(CEP164):c.2669G>A (p.Arg890His) rs368178224 0.00023
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=) rs372595174 0.00023
NM_016335.6(PRODH):c.606C>T (p.Tyr202=) rs149344100 0.00023
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) rs145784842 0.00023
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg) rs141237492 0.00023
NM_020297.4(ABCC9):c.3315+17C>T rs200692327 0.00023
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=) rs1052743921 0.00023
NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=) rs150810594 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024422.6(DSC2):c.-113C>A rs866593085 0.00023
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=) rs187011600 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_033380.3(COL4A5):c.2917+18T>C rs376067886 0.00023
NM_144585.4(SLC22A12):c.661+11G>A rs75786299 0.00023
NM_144997.7(FLCN):c.1326C>T (p.His442=) rs145004158 0.00023
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly) rs139583194 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_212482.4(FN1):c.1143C>T (p.Asp381=) rs200307732 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000045.4(ARG1):c.474T>C (p.Asp158=) rs144403253 0.00022
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys) rs199718635 0.00022
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp) rs145862077 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys) rs139933962 0.00022
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000276.4(OCRL):c.912T>G (p.Gly304=) rs190659938 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu) rs369244777 0.00022
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000345.4(SNCA):c.121+11C>T rs35135226 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000360.4(TH):c.1200+11C>T rs372851419 0.00022
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00022
NM_000387.6(SLC25A20):c.198+2T>C rs147540030 0.00022
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) rs145520251 0.00022
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_000428.3(LTBP2):c.5417C>T (p.Pro1806Leu) rs191944410 0.00022
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_000485.3(APRT):c.376G>A (p.Val126Met) rs75205792 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000548.5(TSC2):c.2837+11dup rs137854204 0.00022
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00022
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=) rs151204685 0.00022
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001037.5(SCN1B):c.-88A>C rs886054341 0.00022
NM_001042413.2(GLIS3):c.1327C>T (p.Leu443=) rs529418802 0.00022
NM_001042413.2(GLIS3):c.2710G>A (p.Gly904Arg) rs150310830 0.00022
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu) rs144586803 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu) rs147870828 0.00022
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) rs746231889 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu) rs191118242 0.00022
NM_001365276.2(TNXB):c.12058+6T>G rs761600175 0.00022
NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) rs149741610 0.00022
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=) rs373197206 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609 0.00022
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001572.5(IRF7):c.1268G>C (p.Arg423Pro) rs149039709 0.00022
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.488+15G>A rs370558169 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val) rs115159138 0.00022
NM_002661.5(PLCG2):c.766-13T>G rs115570507 0.00022
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) rs786205841 0.00022
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003401.5(XRCC4):c.140-15T>C rs375480555 0.00022
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=) rs750881343 0.00022
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004560.4(ROR2):c.-102G>T rs932588990 0.00022
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser) rs146776939 0.00022
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp) rs201884798 0.00022
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_004924.6(ACTN4):c.2673C>T (p.Ala891=) rs140419295 0.00022
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) rs772184358 0.00022
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) rs147185850 0.00022
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_005543.4(INSL3):c.305G>A (p.Arg102His) rs121912556 0.00022
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) rs200750445 0.00022
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_006612.6(KIF1C):c.184-8T>C rs192384276 0.00022
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=) rs141067629 0.00022
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) rs190073606 0.00022
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00022
NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=) rs150036725 0.00022
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_014425.5(INVS):c.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu) rs202214985 0.00022
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=) rs144700973 0.00022
NM_015512.5(DNAH1):c.5332-14G>A rs375828810 0.00022
NM_016335.6(PRODH):c.780A>G (p.Gln260=) rs202042437 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_018979.4(WNK1):c.6123T>A (p.Leu2041=) rs189148252 0.00022
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) rs200234585 0.00022
NM_020041.3(SLC2A9):c.726C>T (p.Ala242=) rs147545113 0.00022
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_020987.5(ANK3):c.6916A>G (p.Lys2306Glu) rs144270555 0.00022
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_030667.3(PTPRO):c.1611G>T (p.Met537Ile) rs141255287 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_032119.4(ADGRV1):c.2734+18T>G rs372642748 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_033337.3(CAV3):c.*852G>A rs555268992 0.00022
NM_033550.4(TP53RK):c.337A>G (p.Met113Val) rs45570735 0.00022
NM_052813.5(CARD9):c.1114G>A (p.Ala372Thr) rs145574224 0.00022
NM_053025.4(MYLK):c.4322-11G>A rs371724615 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala) rs138440917 0.00022
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala) rs144169068 0.00022
NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) rs199933041 0.00022
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946 0.00022
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr) rs568593066 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_212552.3(BOLA3):c.45G>T (p.Gly15=) rs531409597 0.00022
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000029.4(AGT):c.412G>T (p.Ala138Ser) rs61762539 0.00021
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000065.5(C6):c.143G>A (p.Arg48Lys) rs145422926 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000234.3(LIG1):c.1331+6C>T rs370406559 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) rs201788603 0.00021
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) rs149667567 0.00021
NM_000337.6(SGCD):c.*5337G>A rs144968734 0.00021
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000361.3(THBD):c.866A>T (p.Asn289Ile) rs143748797 0.00021
NM_000363.5(TNNI3):c.373-16C>T rs373508654 0.00021
NM_000368.5(TSC1):c.1677C>T (p.Cys559=) rs368317116 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=) rs147245544 0.00021
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=) rs139760936 0.00021
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) rs753168976 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_001126108.2(SLC12A3):c.2368+18C>A rs370563622 0.00021
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=) rs148971447 0.00021
NM_001138.2(AGRP):c.264A>G (p.Val88=) rs145840661 0.00021
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001142800.2(EYS):c.7723+9T>C rs766087392 0.00021
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) rs201181440 0.00021
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=) rs201483860 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001204.7(BMPR2):c.*7080G>A rs886055494 0.00021
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His) rs142863013 0.00021
NM_001267550.2(TTN):c.40634-10T>A rs375097334 0.00021
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg) rs369260968 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) rs72657327 0.00021
NM_001277115.2(DNAH11):c.8072A>G (p.Gln2691Arg) rs183682756 0.00021
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001330691.3(CEP78):c.1915_1916insGGG (p.Pro639delinsArgAla) rs746591373 0.00021
NM_001367561.1(DOCK7):c.2932C>T (p.Arg978Cys) rs750049987 0.00021
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=) rs200736738 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001372.4(DNAH9):c.39G>C (p.Glu13Asp) rs186019513 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly) rs747204358 0.00021
NM_001384732.1(CPLANE1):c.5820+8A>G rs181096718 0.00021
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_001735.3(C5):c.2059+3A>G rs374867185 0.00021
NM_001735.3(C5):c.4321G>T (p.Ala1441Ser) rs143886761 0.00021
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_001963.6(EGF):c.737+11C>T rs374147711 0.00021
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg) rs143405268 0.00021
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002335.4(LRP5):c.1134C>T (p.Ile378=) rs139130382 0.00021
NM_002335.4(LRP5):c.1605G>A (p.Thr535=) rs141896162 0.00021
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=) rs759175453 0.00021
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=) rs149752460 0.00021
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_002661.5(PLCG2):c.2427A>G (p.Gly809=) rs200844173 0.00021
NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr) rs367885048 0.00021
NM_002661.5(PLCG2):c.480-15C>T rs368147709 0.00021
NM_002661.5(PLCG2):c.678C>T (p.Ser226=) rs111553163 0.00021
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002887.4(RARS1):c.1453-17T>G rs202160674 0.00021
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) rs369234115 0.00021
NM_003098.3(SNTA1):c.909+17G>T rs376695170 0.00021
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004356.4(CD81):c.159C>T (p.Pro53=) rs200365372 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=) rs181346149 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_004924.6(ACTN4):c.1712A>G (p.Asp571Gly) rs367745869 0.00021
NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys) rs151161986 0.00021
NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) rs201184598 0.00021
NM_004998.4(MYO1E):c.1805+7G>A rs561678142 0.00021
NM_004998.4(MYO1E):c.2628-8T>C rs373053697 0.00021
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=) rs144794852 0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) rs202092043 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_006005.3(WFS1):c.712+19C>T rs376973865 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006514.4(SCN10A):c.5630C>T (p.Pro1877Leu) rs143523403 0.00021
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr) rs140288103 0.00021
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr) rs139796627 0.00021
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) rs146685108 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_012120.3(CD2AP):c.1812C>T (p.His604=) rs140391156 0.00021
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) rs145129881 0.00021
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser) rs546990509 0.00021
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met) rs774871326 0.00021
NM_014270.5(SLC7A9):c.874-14G>A rs369923725 0.00021
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn) rs139286030 0.00021
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val) rs202048028 0.00021
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_015135.3(NUP205):c.2961C>G (p.Ile987Met) rs61756073 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_015512.5(DNAH1):c.4086G>T (p.Arg1362=) rs199813499 0.00021
NM_015650.4(TRAF3IP1):c.1282+8A>T rs201037417 0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr) rs79400048 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu) rs115620965 0.00021
NM_017947.4(MOCOS):c.1730G>A (p.Gly577Glu) rs200178020 0.00021
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys) rs368984007 0.00021
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=) rs150868908 0.00021
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) rs950301098 0.00021
NM_022042.4(SLC26A1):c.432C>T (p.Ala144=) rs143284684 0.00021
NM_022098.4(XPNPEP3):c.793-18C>T rs201917593 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112 0.00021
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=) rs368304108 0.00021
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_130797.4(DPP6):c.1621G>A (p.Ala541Thr) rs755543207 0.00021
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr) rs374742528 0.00021
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) rs201821907 0.00021
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu) rs34802652 0.00021
NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp) rs587778231 0.00021
NM_182476.3(COQ6):c.498C>T (p.Leu166=) rs139341447 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_198252.3(GSN):c.1325+14G>A rs113863232 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_207361.6(FREM2):c.1677G>C (p.Gln559His) rs199921323 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_212482.4(FN1):c.3199G>A (p.Val1067Met) rs145483591 0.00021
NM_212482.4(FN1):c.3909T>G (p.Val1303=) rs200729428 0.00021
NM_000071.3(CBS):c.856A>G (p.Ile286Val) rs147040567 0.00020
NM_000092.5(COL4A4):c.930+11T>C rs531340239 0.00020
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_000213.5(ITGB4):c.495C>T (p.Ser165=) rs75092172 0.00020
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_000276.4(OCRL):c.105G>A (p.Arg35=) rs142321728 0.00020
NM_000276.4(OCRL):c.152A>G (p.His51Arg) rs764804719 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000337.6(SGCD):c.*7231A>T rs766236284 0.00020
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr) rs377127458 0.00020
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000548.5(TSC2):c.1443+15G>A rs182743311 0.00020
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600 0.00020
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_000789.4(ACE):c.1317G>T (p.Leu439=) rs140529617 0.00020
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00020
NM_001009944.3(PKD1):c.8235T>G (p.Ser2745=) rs556575921 0.00020
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 0.00020
NM_001041.4(SI):c.2828G>C (p.Cys943Ser) rs375113759 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) rs76519389 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) rs140514551 0.00020
NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu) rs562206142 0.00020
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=) rs561410801 0.00020
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) rs142510905 0.00020
NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=) rs138089800 0.00020
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu) rs570730533 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr) rs374186868 0.00020
NM_001286445.3(RIPOR2):c.1164+482A>G rs745360194 0.00020
NM_001349206.2(LPIN1):c.2229G>A (p.Lys743=) rs149684218 0.00020
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) rs141573582 0.00020
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750 0.00020
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=) rs373880888 0.00020
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_001486.4(GCKR):c.548C>T (p.Ser183Phe) rs151082324 0.00020
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001735.3(C5):c.667+8C>G rs375251377 0.00020
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_001972.4(ELANE):c.431G>A (p.Arg144His) rs142441575 0.00020
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_002234.4(KCNA5):c.98A>T (p.Glu33Val) rs71584818 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004525.3(LRP2):c.10768+12C>T rs17848185 0.00020
NM_004612.4(TGFBR1):c.-13T>C rs886063220 0.00020
NM_004946.3(DOCK2):c.264A>G (p.Ala88=) rs201493926 0.00020
NM_004998.4(MYO1E):c.2164+12A>G rs187897054 0.00020
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_005633.4(SOS1):c.*3252A>C rs769883659 0.00020
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.762C>T (p.Tyr254=) rs140266808 0.00020
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=) rs145467496 0.00020
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_015634.4(KIFBP):c.901G>A (p.Glu301Lys) rs149809657 0.00020
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile) rs776917693 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp) rs184218784 0.00020
NM_017565.4(FAM20A):c.43C>T (p.Leu15=) rs372862593 0.00020
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) rs373638784 0.00020
NM_017668.3(NDE1):c.302C>T (p.Ala101Val) rs201587506 0.00020
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) rs376316183 0.00020
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=) rs138090463 0.00020
NM_021098.3(CACNA1H):c.2452-7C>T rs28365121 0.00020
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys) rs139411012 0.00020
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala) rs368163419 0.00020
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) rs34677717 0.00020
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_033028.5(BBS4):c.1107-11G>C rs373344695 0.00020
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_057176.3(BSND):c.548+10T>C rs369882063 0.00020
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_138694.4(PKHD1):c.2821+10G>A rs367619854 0.00020
NM_138694.4(PKHD1):c.3851C>T (p.Pro1284Leu) rs139838478 0.00020
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) rs151048660 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_144585.4(SLC22A12):c.123G>A (p.Ser41=) rs144313367 0.00020
NM_144585.4(SLC22A12):c.677C>T (p.Ala226Val) rs145738825 0.00020
NM_144997.7(FLCN):c.1176+15T>C rs550870270 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_198252.3(GSN):c.-9-1943G>A rs568885924 0.00020
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) rs752572521 0.00020
NM_212482.4(FN1):c.4791C>T (p.Ser1597=) rs374970848 0.00020
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526 0.00019
NM_000045.4(ARG1):c.-21A>C rs370747314 0.00019
NM_000051.3(ATM):c.-371G>C rs890835455 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000064.4(C3):c.1650C>T (p.Ser550=) rs138835619 0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.2354+19C>T rs192942944 0.00019
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000078.3(CETP):c.1018G>A (p.Val340Ile) rs141310739 0.00019
NM_000078.3(CETP):c.663C>A (p.Ser221Arg) rs201438792 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His) rs13306425 0.00019
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_000213.5(ITGB4):c.309C>A (p.Pro103=) rs763268075 0.00019
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) rs138928712 0.00019
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828 0.00019
NM_000219.6(KCNE1):c.-530G>A rs886057027 0.00019
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu) rs199473350 0.00019
NM_000226.4(KRT9):c.697C>T (p.Arg233Cys) rs144301874 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573 0.00019
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) rs200488706 0.00019
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000337.6(SGCD):c.*5907T>C rs766068819 0.00019
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) rs180847164 0.00019
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser) rs141412905 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_000379.4(XDH):c.1819C>T (p.Arg607Trp) rs201464771 0.00019
NM_000379.4(XDH):c.2911G>A (p.Glu971Lys) rs148921536 0.00019
NM_000384.3(APOB):c.2937C>T (p.Gly979=) rs145649470 0.00019
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr) rs148380512 0.00019
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00019
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) rs148995315 0.00019
NM_000944.5(PPP3CA):c.138A>G (p.Leu46=) rs143169609 0.00019
NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=) rs199722904 0.00019
NM_001009944.3(PKD1):c.10119G>A (p.Ser3373=) rs376838860 0.00019
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782 0.00019
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=) rs372882189 0.00019
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) rs766153965 0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_001041.4(SI):c.1285G>A (p.Ala429Thr) rs556583179 0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_001041.4(SI):c.3732C>T (p.Asp1244=) rs200449490 0.00019
NM_001042413.2(GLIS3):c.1154G>T (p.Gly385Val) rs200959196 0.00019
NM_001042413.2(GLIS3):c.2746G>A (p.Val916Met) rs151140581 0.00019
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=) rs1053614 0.00019
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=) rs377619612 0.00019
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188 0.00019
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn) rs140341680 0.00019
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu) rs141818413 0.00019
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met) rs201603222 0.00019
NM_001242957.3(MAK):c.356A>G (p.His119Arg) rs200506656 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala) rs758207460 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) rs374614801 0.00019
NM_001364905.1(LRBA):c.2067+11A>G rs185860143 0.00019
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=) rs202231787 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 0.00019
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys) rs764823951 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser) rs373345277 0.00019
NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr) rs199682518 0.00019
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val) rs142517429 0.00019
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) rs199834829 0.00019
NM_001384479.1(AGT):c.1027G>A rs150452789 0.00019
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp) rs200215340 0.00019
NM_001558.4(IL10RA):c.420C>T (p.Leu140=) rs201857411 0.00019
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263 0.00019
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543 0.00019
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001963.6(EGF):c.1354G>A (p.Val452Ile) rs142751045 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys) rs200127858 0.00019
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) rs11550620 0.00019
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr) rs199794467 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002335.4(LRP5):c.2358C>T (p.Ile786=) rs140616444 0.00019
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=) rs143482432 0.00019
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) rs376164225 0.00019
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002661.5(PLCG2):c.171C>T (p.Thr57=) rs374354863 0.00019
NM_003200.5(TCF3):c.823-13C>T rs148835727 0.00019
NM_003227.4(TFR2):c.1259G>A (p.Arg420His) rs146901123 0.00019
NM_003392.7(WNT5A):c.522G>T (p.Pro174=) rs559836923 0.00019
NM_003401.5(XRCC4):c.970A>C (p.Asn324His) rs61749611 0.00019
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) rs76718524 0.00019
NM_003661.4(APOL1):c.1150A>T (p.Ile384Phe) rs373463596 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_004281.4(BAG3):c.*399G>T rs774188346 0.00019
NM_004371.4(COPA):c.399G>A (p.Gly133=) rs142221638 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) rs150906896 0.00019
NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser) rs147981204 0.00019
NM_004560.4(ROR2):c.871A>G (p.Met291Val) rs150364724 0.00019
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=) rs370276697 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004795.4(KL):c.1788C>A (p.Ser596=) rs141133607 0.00019
NM_004836.7(EIF2AK3):c.103G>C (p.Gly35Arg) rs776456569 0.00019
NM_005076.5(CNTN2):c.2844+11A>C rs377297728 0.00019
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu) rs776350709 0.00019
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_005515.4(MNX1):c.445G>A (p.Gly149Ser) rs1333052902 0.00019
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_005751.5(AKAP9):c.8161-7G>A rs202218770 0.00019
NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val) rs139264994 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_006005.3(WFS1):c.315+18G>A rs375473654 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val) rs140995132 0.00019
NM_006514.4(SCN10A):c.4089+12A>T rs151164057 0.00019
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) rs200461035 0.00019
NM_006662.3(SRCAP):c.1135-14C>T rs534965827 0.00019
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_007074.4(CORO1A):c.347T>C (p.Leu116Pro) rs566260573 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007214.5(SEC63):c.1210-7T>A rs201986291 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe) rs138699534 0.00019
NM_012210.4(TRIM32):c.578G>A (p.Arg193His) rs373853273 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_015102.5(NPHP4):c.2129G>A (p.Gly710Asp) rs563684894 0.00019
NM_015102.5(NPHP4):c.3518G>A (p.Arg1173His) rs137932153 0.00019
NM_015141.4(GPD1L):c.459C>T (p.Asn153=) rs375532052 0.00019
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser) rs139494055 0.00019
NM_015158.5(KANK1):c.564A>G (p.Gly188=) rs201155271 0.00019
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00019
NM_015331.3(NCSTN):c.437-12C>G rs201416838 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile) rs370618204 0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4815+9G>A rs199667794 0.00019
NM_017415.3(KLHL3):c.904-5C>T rs375172469 0.00019
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) rs140917285 0.00019
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) rs746075675 0.00019
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) rs752778561 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017947.4(MOCOS):c.1118G>A (p.Arg373Gln) rs144081367 0.00019
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
NM_018943.3(TUBA8):c.967G>A (p.Val323Met) rs151102020 0.00019
NM_018979.4(WNK1):c.192C>T (p.Asp64=) rs756914631 0.00019
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg) rs141811843 0.00019
NM_020812.4(DOCK6):c.2629C>T (p.Arg877Cys) rs199553475 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381 0.00019
NM_021098.3(CACNA1H):c.4759+8G>A rs199997129 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met) rs147390386 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_022042.4(SLC26A1):c.1585G>A (p.Glu529Lys) rs371738826 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser) rs201690654 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_024649.5(BBS1):c.-3A>G rs549210746 0.00019
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=) rs367585112 0.00019
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr) rs201740573 0.00019
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu) rs376122558 0.00019
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=) rs767860539 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032340.4(UQCC2):c.75G>C (p.Arg25=) rs200426793 0.00019
NM_032382.5(COG8):c.886G>A (p.Glu296Lys) rs149850861 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly) rs148843256 0.00019
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile) rs780612276 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) rs745653250 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_138694.4(PKHD1):c.1603-19T>A rs201996881 0.00019
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) rs149953167 0.00019
NM_144585.4(SLC22A12):c.274C>T (p.Arg92Cys) rs144328876 0.00019
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro) rs142285083 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys) rs199846944 0.00019
NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) rs1474186338 0.00019
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=) rs147201722 0.00019
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) rs377730779 0.00019
NM_175875.5(SIX5):c.543C>A (p.Gly181=) rs372584912 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu) rs374187681 0.00019
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly) rs148398677 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_198428.3(BBS9):c.886+14T>G rs368019366 0.00019
NM_198578.4(LRRK2):c.45T>C (p.Thr15=) rs142399623 0.00019
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) rs144367884 0.00019
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe) rs202008233 0.00019
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro) rs140937193 0.00019
NM_212482.4(FN1):c.141A>C (p.Gln47His) rs145263539 0.00019
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) rs199957523 0.00019
NM_212482.4(FN1):c.278-18C>T rs57534860 0.00019
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) rs201136367 0.00019
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740 0.00018
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) rs372841765 0.00018
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00018
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000213.5(ITGB4):c.2577C>T (p.Ser859=) rs148787870 0.00018
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=) rs145897252 0.00018
NM_000213.5(ITGB4):c.738+3G>A rs374647847 0.00018
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp) rs752973530 0.00018
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=) rs5408 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_000424.4(KRT5):c.110G>A (p.Arg37Gln) rs61747181 0.00018
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000490.5(AVP):c.132C>T (p.Cys44=) rs572548414 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00018
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_001001433.3(STX16):c.360T>C (p.His120=) rs148962992 0.00018
NM_001002295.2(GATA3):c.591G>A (p.Glu197=) rs372630189 0.00018
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00018
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_001032386.2(SUOX):c.470T>C (p.Ile157Thr) rs143300414 0.00018
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087 0.00018
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr) rs375443860 0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) rs201083197 0.00018
NM_001080516.2(GRXCR2):c.580G>A (p.Glu194Lys) rs367826984 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001127217.3(SMAD9):c.1260+17A>C rs374987262 0.00018
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp) rs72556376 0.00018
NM_001148.6(ANK2):c.11060G>C (p.Cys3687Ser) rs143803967 0.00018
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys) rs200524407 0.00018
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln) rs142652341 0.00018
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr) rs752366165 0.00018
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=) rs148026048 0.00018
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln) rs1479390801 0.00018
NM_001267550.2(TTN):c.38627-16A>G rs1014728001 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001270508.2(TNFAIP3):c.1193T>C (p.Val398Ala) rs140616865 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001372066.1(TFAP2A):c.257C>T (p.Pro86Leu) rs200131527 0.00018
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) rs373903792 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser) rs201917318 0.00018
NM_001572.5(IRF7):c.767-14C>T rs543923618 0.00018
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_002204.4(ITGA3):c.1047G>A (p.Ala349=) rs201297040 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002246.3(KCNK3):c.953G>A (p.Arg318His) rs150626749 0.00018
NM_002292.4(LAMB2):c.460-8C>G rs200141829 0.00018
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=) rs201352823 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln) rs146389992 0.00018
NM_002838.5(PTPRC):c.596A>G (p.Asn199Ser) rs369311409 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_003060.4(SLC22A5):c.*1244C>T rs184494469 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser) rs147108931 0.00018
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004366.6(CLCN2):c.879A>G (p.Ala293=) rs138937943 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004525.3(LRP2):c.10282A>G (p.Arg3428Gly) rs147267007 0.00018
NM_004525.3(LRP2):c.7721G>C (p.Arg2574Thr) rs149675661 0.00018
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004924.6(ACTN4):c.1291+4C>T rs201704771 0.00018
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=) rs202127035 0.00018
NM_004937.3(CTNS):c.697G>A (p.Val233Met) rs201058200 0.00018
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser) rs144896235 0.00018
NM_005633.4(SOS1):c.*185A>G rs556367844 0.00018
NM_006005.3(WFS1):c.2622C>T (p.Ala874=) rs141052196 0.00018
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) rs149578420 0.00018
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073 0.00018
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00018
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_012301.4(MAGI2):c.528G>A (p.Gly176=) rs140651421 0.00018
NM_014270.5(SLC7A9):c.978-18C>T rs200323617 0.00018
NM_014339.7(IL17RA):c.2038G>T (p.Ala680Ser) rs181468995 0.00018
NM_014425.5(INVS):c.1785-20T>G rs200028895 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu) rs143370558 0.00018
NM_014956.5(CEP164):c.315T>C (p.Thr105=) rs147988387 0.00018
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg) rs77118839 0.00018
NM_014956.5(CEP164):c.687+15C>T rs200387177 0.00018
NM_015102.5(NPHP4):c.1813G>A (p.Gly605Ser) rs201282741 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val) rs376829052 0.00018
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp) rs143045012 0.00018
NM_017947.4(MOCOS):c.2175T>G (p.Pro725=) rs151067903 0.00018
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_018062.4(FANCL):c.142C>G (p.Leu48Val) rs148516173 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=) rs369693571 0.00018
NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser) rs375316181 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024876.4(COQ8B):c.953C>T (p.Thr318Met) rs55899516 0.00018
NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg) rs376808560 0.00018
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) rs370629874 0.00018
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys) rs369902368 0.00018
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_031229.4(RBCK1):c.-9C>A rs140276089 0.00018
NM_031885.5(BBS2):c.471+17A>G rs200587401 0.00018
NM_032409.3(PINK1):c.153A>G (p.Gly51=) rs967760539 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820 0.00018
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414 0.00018
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys) rs147332242 0.00018
NM_138694.4(PKHD1):c.6490+8A>G rs201984652 0.00018
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=) rs371914056 0.00018
NM_178170.3(NEK8):c.1263G>A (p.Gly421=) rs147061645 0.00018
NM_182643.3(DLC1):c.1700C>T (p.Pro567Leu) rs139415835 0.00018
NM_182643.3(DLC1):c.2265G>C (p.Thr755=) rs138749997 0.00018
NM_198334.3(GANAB):c.2343C>T (p.Ser781=) rs779306237 0.00018
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) rs149078926 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln) rs529313774 0.00018
NM_203290.4(POLR1C):c.65G>A (p.Arg22His) rs149529196 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=) rs368774059 0.00017
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949 0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000219.6(KCNE1):c.*2475A>G rs913676929 0.00017
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000379.4(XDH):c.977T>G (p.Val326Gly) rs761592093 0.00017
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00017
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843 0.00017
NM_000417.3(IL2RA):c.125A>G (p.Lys42Arg) rs142016545 0.00017
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000428.3(LTBP2):c.950C>T (p.Pro317Leu) rs148766628 0.00017
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His) rs778176344 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000452.3(SLC10A2):c.230G>A (p.Gly77Glu) rs143297386 0.00017
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000587.4(C7):c.659G>A (p.Arg220Gln) rs369349760 0.00017
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_001003841.3(SLC6A19):c.1539-20G>C rs113981520 0.00017
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) rs372599057 0.00017
NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=) rs148328575 0.00017
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val) rs1014756958 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu) rs35960628 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) rs79536709 0.00017
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.688A>C (p.Thr230Pro) rs200507464 0.00017
NM_001195305.3(BBIP1):c.116C>T (p.Pro39Leu) rs912754275 0.00017
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) rs529024280 0.00017
NM_001261826.3(AP3D1):c.2001+6C>T rs376715473 0.00017
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met) rs779238709 0.00017
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His) rs771668359 0.00017
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu) rs200308639 0.00017
NM_001349206.2(LPIN1):c.2163-10C>T rs189673725 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys) rs142193030 0.00017
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=) rs141035492 0.00017
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) rs200036158 0.00017
NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr) rs139028174 0.00017
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp) rs148995688 0.00017
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) rs200905679 0.00017
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00017
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_002335.4(LRP5):c.2115C>T (p.Asn705=) rs145456776 0.00017
NM_002458.3(MUC5B):c.2725G>A (p.Asp909Asn) rs80298911 0.00017
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_002528.7(NTHL1):c.275G>A (p.Arg92His) rs145644817 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu) rs142674953 0.00017
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe) rs201534081 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=) rs138627624 0.00017
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592 0.00017
NM_004525.3(LRP2):c.828G>A (p.Ser276=) rs146048301 0.00017
NM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp) rs141477807 0.00017
NM_004944.4(DNASE1L3):c.444C>T (p.Asp148=) rs370862010 0.00017
NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr) rs142638347 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005413.4(SIX3):c.206G>A (p.Gly69Asp) rs121917881 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00017
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_005902.4(SMAD3):c.-265T>G rs886051373 0.00017
NM_006005.3(WFS1):c.1755C>T (p.Phe585=) rs1801210 0.00017
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys) rs200645452 0.00017
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr) rs143103128 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) rs376818531 0.00017
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014714.4(IFT140):c.1524+8G>A rs369331038 0.00017
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) rs141305214 0.00017
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu) rs559070007 0.00017
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268 0.00017
NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His) rs375819124 0.00017
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr) rs144622500 0.00017
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016111.4(TELO2):c.2376C>T (p.Asp792=) rs200969710 0.00017
NM_016123.4(IRAK4):c.1171C>T (p.Arg391Cys) rs114820168 0.00017
NM_016335.6(PRODH):c.1143C>T (p.Ala381=) rs560442727 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met) rs377660409 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile) rs200898204 0.00017
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=) rs543668675 0.00017
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=) rs61700478 0.00017
NM_021729.6(VPS11):c.1640G>A (p.Arg547His) rs200774813 0.00017
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_022042.4(SLC26A1):c.400G>A (p.Gly134Arg) rs201921976 0.00017
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=) rs201469402 0.00017
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly) rs138927584 0.00017
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00017
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=) rs150202544 0.00017
NM_138694.4(PKHD1):c.4169G>A (p.Arg1390Gln) rs139063552 0.00017
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409 0.00017
NM_152424.4(AMER1):c.742C>A (p.Pro248Thr) rs149688443 0.00017
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=) rs780208452 0.00017
NM_153240.5(NPHP3):c.944A>T (p.Asp315Val) rs149565564 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser) rs200487992 0.00017
NM_181776.3(SLC36A2):c.1181-5T>C rs190486100 0.00017
NM_182548.4(LHFPL5):c.*431C>T rs866312688 0.00017
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln) rs139393175 0.00017
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp) rs376142558 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_212482.4(FN1):c.2714-11_2714-10del rs371418810 0.00017
NM_213655.5(WNK1):c.2143C>T (p.Arg715Cys) rs772257923 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 0.00016
NM_000092.5(COL4A4):c.1987+16T>A rs532962885 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379 0.00016
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr) rs374389539 0.00016
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) rs370732845 0.00016
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000255.4(MMUT):c.1084-12C>T rs373027036 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000268.4(NF2):c.114+20G>T rs746868503 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000278.5(PAX2):c.496+9G>T rs577483360 0.00016
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys) rs146360295 0.00016
NM_000312.4(PROC):c.1212G>A (p.Gly404=) rs370637632 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000343.4(SLC5A1):c.208-8G>A rs199783226 0.00016
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00016
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) rs145138372 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_000379.4(XDH):c.349A>T (p.Thr117Ser) rs556797607 0.00016
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys) rs138118085 0.00016
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val) rs150843941 0.00016
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) rs142756262 0.00016
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000486.6(AQP2):c.-60C>T rs563444539 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00016
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_000548.5(TSC2):c.649-9C>G rs781099543 0.00016
NM_000587.4(C7):c.605A>G (p.Asn202Ser) rs199587630 0.00016
NM_000685.5(AGTR1):c.893A>G (p.Asn298Ser) rs368951368 0.00016
NM_000719.7(CACNA1C):c.4957-15C>T rs766975739 0.00016
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125 0.00016
NM_000785.4(CYP27B1):c.387-8C>A rs375741542 0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) rs144935285 0.00016
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu) rs730880179 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.336+17T>G rs185681814 0.00016
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00016
NM_001018005.1(TPM1):c.-106C>T rs886051320 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) rs187532711 0.00016
NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser) rs755318788 0.00016
NM_001042702.5(PJVK):c.794G>A (p.Arg265His) rs199841343 0.00016
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=) rs371700719 0.00016
NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile) rs367968730 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00016
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) rs374363189 0.00016
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) rs555904350 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00016
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) rs201696394 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=) rs180735402 0.00016
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001148.6(ANK2):c.2080-18G>T rs199937888 0.00016
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met) rs141013157 0.00016
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=) rs762072316 0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) rs151272575 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001172509.2(SATB2):c.1740+12C>T rs201101830 0.00016
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=) rs202060862 0.00016
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln) rs374574191 0.00016
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys) rs377600383 0.00016
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu) rs367720476 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 0.00016
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys) rs374826188 0.00016
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028 0.00016
NM_001330588.2(TPP2):c.3074A>G (p.Glu1025Gly) rs199569052 0.00016
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) rs376396608 0.00016
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=) rs375764263 0.00016
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) rs201410285 0.00016
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=) rs373928701 0.00016
NM_001371596.2(MFSD8):c.864-16A>T rs202196597 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880 0.00016
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094 0.00016
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001735.3(C5):c.4018-18T>A rs762212329 0.00016
NM_001735.3(C5):c.4713A>G (p.Glu1571=) rs141660654 0.00016
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.4463-15T>C rs573385917 0.00016
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_002292.4(LAMB2):c.2344+14A>T rs369733428 0.00016
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=) rs149536828 0.00016
NM_002335.4(LRP5):c.2766C>T (p.Gly922=) rs139372523 0.00016
NM_002335.4(LRP5):c.3237-5C>T rs376163277 0.00016
NM_002335.4(LRP5):c.488+11dup rs771667608 0.00016
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=) rs201667127 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) rs372041586 0.00016
NM_002661.5(PLCG2):c.1923C>T (p.His641=) rs374927413 0.00016
NM_002661.5(PLCG2):c.2940G>A (p.Lys980=) rs376216756 0.00016
NM_002661.5(PLCG2):c.581A>T (p.Lys194Ile) rs372054297 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263 0.00016
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met) rs201262157 0.00016
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003392.7(WNT5A):c.807G>A (p.Lys269=) rs117338660 0.00016
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu) rs769003538 0.00016
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_003597.5(KLF11):c.992G>T (p.Gly331Val) rs151317435 0.00016
NM_003640.5(ELP1):c.3477C>T (p.His1159=) rs141257064 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg) rs144264145 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_004366.6(CLCN2):c.936C>G (p.Leu312=) rs41266267 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004415.4(DSP):c.-157G>A rs886061742 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_004525.3(LRP2):c.10203G>A (p.Thr3401=) rs760898762 0.00016
NM_004525.3(LRP2):c.12072C>T (p.Thr4024=) rs140444992 0.00016
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg) rs144054579 0.00016
NM_004525.3(LRP2):c.5959G>A (p.Asp1987Asn) rs77017461 0.00016
NM_004525.3(LRP2):c.7801T>C (p.Tyr2601His) rs554748412 0.00016
NM_004525.3(LRP2):c.8005+14C>A rs374471253 0.00016
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=) rs200194530 0.00016
NM_004525.3(LRP2):c.8409A>G (p.Val2803=) rs201263376 0.00016
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) rs139915017 0.00016
NM_004560.4(ROR2):c.525G>A (p.Gln175=) rs147616624 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004646.4(NPHS1):c.2482C>A (p.Arg828=) rs142956465 0.00016
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=) rs568574676 0.00016
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005422.4(TECTA):c.5586+12A>G rs199723136 0.00016
NM_005477.3(HCN4):c.2904G>A (p.Pro968=) rs368145651 0.00016
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772 0.00016
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468 0.00016
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_005515.4(MNX1):c.483C>T (p.His161=) rs1171559580 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val) rs184676617 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_006005.3(WFS1):c.801C>T (p.Asp267=) rs147734431 0.00016
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291 0.00016
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638 0.00016
NM_006059.4(LAMC3):c.538C>T (p.Arg180Cys) rs146609763 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_006129.5(BMP1):c.1624G>A (p.Val542Ile) rs753963317 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_006514.4(SCN10A):c.2709C>T (p.Asp903=) rs368637625 0.00016
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg) rs778754301 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_006642.5(SDCCAG8):c.421-16G>T rs780682849 0.00016
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) rs368322185 0.00016
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_015102.5(NPHP4):c.1331G>A (p.Arg444Gln) rs202179978 0.00016
NM_015102.5(NPHP4):c.2623G>A (p.Val875Met) rs571204647 0.00016
NM_015102.5(NPHP4):c.2834G>A (p.Arg945His) rs201531378 0.00016
NM_015102.5(NPHP4):c.3817-20C>T rs573999865 0.00016
NM_015102.5(NPHP4):c.467A>G (p.His156Arg) rs199897869 0.00016
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=) rs147092668 0.00016
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00016
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814 0.00016
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln) rs199945820 0.00016
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509 0.00016
NM_016058.5(TPRKB):c.390G>A (p.Gln130=) rs144417465 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016366.3(CABP2):c.143A>C (p.Tyr48Ser) rs760234562 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_017662.5(TRPM6):c.2649T>C (p.Ala883=) rs373991938 0.00016
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138 0.00016
NM_017947.4(MOCOS):c.891G>A (p.Ala297=) rs368463866 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_018112.3(TMEM38B):c.875A>G (p.Ter292=) rs145425586 0.00016
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018979.4(WNK1):c.3490-4A>G rs143557702 0.00016
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg) rs147206277 0.00016
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=) rs59027754 0.00016
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) rs375325893 0.00016
NM_021098.3(CACNA1H):c.2790-5C>T rs369327243 0.00016
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671 0.00016
NM_021098.3(CACNA1H):c.5174-5C>T rs199536335 0.00016
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=) rs375620368 0.00016
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His) rs370384766 0.00016
NM_021224.6(ZNF462):c.5206A>G (p.Ile1736Val) rs192125496 0.00016
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) rs185230199 0.00016
NM_022042.4(SLC26A1):c.1785G>A (p.Pro595=) rs148200047 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro) rs202220730 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.687+20A>G rs779551290 0.00016
NM_025074.7(FRAS1):c.809G>A (p.Arg270His) rs374688692 0.00016
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_030787.4(CFHR5):c.608-3T>A rs375481393 0.00016
NM_031220.4(PITPNM3):c.2036C>T (p.Ser679Phe) rs146074870 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_032122.5(DTNBP1):c.512-16T>C rs112527545 0.00016
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00016
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln) rs369852048 0.00016
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_033337.3(CAV3):c.*134G>A rs949111902 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_057176.3(BSND):c.9C>T (p.Asp3=) rs141111550 0.00016
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00016
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met) rs538740246 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_133497.4(KCNV2):c.1043T>C (p.Leu348Pro) rs201425989 0.00016
NM_138413.4(HOGA1):c.579G>A (p.Val193=) rs142057128 0.00016
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile) rs189919790 0.00016
NM_138694.4(PKHD1):c.10684C>A (p.His3562Asn) rs140419956 0.00016
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551 0.00016
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys) rs146745096 0.00016
NM_138694.4(PKHD1):c.8951-19G>A rs200025399 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144997.7(FLCN):c.1062+7G>A rs540198776 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152383.5(DIS3L2):c.-52A>G rs750961522 0.00016
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00016
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_152641.4(ARID2):c.180C>T (p.Phe60=) rs200775326 0.00016
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_173854.6(SLC41A1):c.1161A>G (p.Gln387=) rs145225878 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540 0.00016
NM_174934.4(SCN4B):c.*670G>T rs182613927 0.00016
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00016
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu) rs77439349 0.00016
NM_198334.3(GANAB):c.2253G>A (p.Ala751=) rs200456484 0.00016
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe) rs140821420 0.00016
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp) rs138416277 0.00016
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) rs138539682 0.00016
NM_212482.4(FN1):c.1820-16A>G rs72943927 0.00016
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) rs146898035 0.00016
NM_213655.5(WNK1):c.2772A>G (p.Glu924=) rs371538921 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000085.5(CLCNKB):c.2016+19C>T rs575143198 0.00015
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) rs112371422 0.00015
NM_000092.5(COL4A4):c.2717-17T>C rs183421243 0.00015
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr) rs368339876 0.00015
NM_000216.4(ANOS1):c.72G>A (p.Ala24=) rs764457546 0.00015
NM_000217.3(KCNA1):c.114C>T (p.Arg38=) rs146308797 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000384.3(APOB):c.35T>C (p.Leu12Pro) rs758450840 0.00015
NM_000384.3(APOB):c.4970C>T (p.Thr1657Met) rs144239254 0.00015
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr) rs373272476 0.00015
NM_000417.3(IL2RA):c.655+4C>T rs373973017 0.00015
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000514.4(GDNF):c.222A>G (p.Arg74=) rs139694199 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.2767A>G (p.Met923Val) rs149913097 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) rs373082402 0.00015
NM_000631.5(NCF4):c.270A>T (p.Pro90=) rs370754874 0.00015
NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg) rs201775251 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg) rs757285245 0.00015
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=) rs573754849 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=) rs142536967 0.00015
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001041.4(SI):c.5108+16A>G rs149803140 0.00015
NM_001042413.2(GLIS3):c.275C>T (p.Thr92Ile) rs375931960 0.00015
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His) rs369658574 0.00015
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) rs202176359 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001126108.2(SLC12A3):c.2368+8C>A rs140236327 0.00015
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) rs61751712 0.00015
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) rs373432793 0.00015
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu) rs150737736 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001190274.2(FBXO11):c.1617-4A>G rs570549776 0.00015
NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu) rs199815268 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys) rs368607833 0.00015
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met) rs1336768417 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001288705.3(CSF1R):c.1929C>T (p.His643=) rs184499252 0.00015
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001371986.1(UNC80):c.8719G>A (p.Val2907Met) rs758252802 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378615.1(CC2D2A):c.3135G>A (p.Val1045=) rs371608031 0.00015
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln) rs200495440 0.00015
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg) rs775399423 0.00015
NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) rs763990411 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp) rs573559104 0.00015
NM_001625.4(AK2):c.631G>A (p.Asp211Asn) rs143825456 0.00015
NM_001673.5(ASNS):c.868A>G (p.Met290Val) rs146656175 0.00015
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) rs775923357 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_001963.6(EGF):c.1066+10G>C rs76435576 0.00015
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002474.3(MYH11):c.1317C>T (p.Arg439=) rs183292376 0.00015
NM_002474.3(MYH11):c.1749+4C>G rs776271431 0.00015
NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp) rs375590398 0.00015
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003597.5(KLF11):c.437C>T (p.Ala146Val) rs148968483 0.00015
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln) rs137853022 0.00015
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004482.4(GALNT3):c.504T>C (p.Thr168=) rs183709224 0.00015
NM_004525.3(LRP2):c.12461+20C>T rs368683982 0.00015
NM_004525.3(LRP2):c.6040+9T>C rs185280219 0.00015
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=) rs140698184 0.00015
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_004531.5(MOCS2):c.209C>T (p.Ala70Val) rs148685617 0.00015
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) rs751280391 0.00015
NM_004589.4(SCO1):c.702C>T (p.Val234=) rs199687831 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr) rs148628123 0.00015
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=) rs200987052 0.00015
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) rs771536349 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala) rs199909093 0.00015
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_012090.5(MACF1):c.35G>A (p.Arg12Gln) rs200446050 0.00015
NM_012120.3(CD2AP):c.1417+19C>T rs185609509 0.00015
NM_012120.3(CD2AP):c.1488G>A (p.Met496Ile) rs143297472 0.00015
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser) rs368690576 0.00015
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_015102.5(NPHP4):c.2797C>T (p.Arg933Trp) rs778505641 0.00015
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) rs375836844 0.00015
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) rs146648084 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile) rs182816928 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017636.4(TRPM4):c.2535C>G (p.Pro845=) rs560849729 0.00015
NM_017636.4(TRPM4):c.857C>T (p.Thr286Met) rs775793134 0.00015
NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu) rs370580602 0.00015
NM_017662.5(TRPM6):c.3288C>T (p.His1096=) rs138479474 0.00015
NM_017827.4(SARS2):c.353G>A (p.Arg118Gln) rs377601567 0.00015
NM_017947.4(MOCOS):c.2082G>A (p.Leu694=) rs748662002 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018979.4(WNK1):c.3508C>G (p.Leu1170Val) rs142181848 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020433.5(JPH2):c.579C>T (p.Pro193=) rs534491843 0.00015
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752 0.00015
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=) rs374317639 0.00015
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=) rs537043174 0.00015
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met) rs370975488 0.00015
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=) rs370836939 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys) rs371024796 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 0.00015
NM_022489.4(INF2):c.1736-6C>T rs371991103 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn) rs373601771 0.00015
NM_031372.4(HNRNPDL):c.329A>G (p.Gln110Arg) rs757117165 0.00015
NM_032119.4(ADGRV1):c.14320C>T (p.Leu4774Phe) rs200685818 0.00015
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln) rs368119340 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_032608.7(MYO18B):c.3616C>T (p.Pro1206Ser) rs199769850 0.00015
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr) rs145219220 0.00015
NM_138694.4(PKHD1):c.588G>A (p.Arg196=) rs201773743 0.00015
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile) rs201093464 0.00015
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105 0.00015
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile) rs141900128 0.00015
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_183357.3(ADCY5):c.304G>A (p.Ala102Thr) rs548282891 0.00015
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn) rs148315419 0.00015
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_212482.4(FN1):c.3012G>A (p.Gln1004=) rs142994783 0.00015
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser) rs200277866 0.00014
NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg) rs200133226 0.00014
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000078.3(CETP):c.182C>T (p.Thr61Met) rs142464301 0.00014
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000091.5(COL4A3):c.2125+14T>A rs563131123 0.00014
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=) rs554940562 0.00014
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met) rs370575495 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) rs1359183911 0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met) rs767758983 0.00014
NM_000210.4(ITGA6):c.2538C>T (p.Leu846=) rs181814375 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000222.3(KIT):c.2502G>A (p.Lys834=) rs146992614 0.00014
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000255.4(MMUT):c.2124+16A>G rs376257828 0.00014
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu) rs140149624 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=) rs377180274 0.00014
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe) rs760751280 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_000301.5(PLG):c.36A>G (p.Leu12=) rs371469289 0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000311.5(PRNP):c.*115G>A rs746943389 0.00014
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
NM_000337.6(SGCD):c.*1719G>A rs886060293 0.00014
NM_000337.6(SGCD):c.*3779T>C rs886060302 0.00014
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) rs370908136 0.00014
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000371.3(TTR):c.-61G>A rs770403822 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000376.3(VDR):c.1206C>A (p.Arg402=) rs2229829 0.00014
NM_000376.3(VDR):c.889G>A (p.Val297Ile) rs144756403 0.00014
NM_000379.4(XDH):c.1210C>A (p.Leu404Met) rs372033714 0.00014
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys) rs147476468 0.00014
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862 0.00014
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro) rs372035579 0.00014
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) rs151285465 0.00014
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) rs377583144 0.00014
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) rs145592525 0.00014
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) rs201103987 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000548.5(TSC2):c.1947-3C>T rs201106259 0.00014
NM_000587.4(C7):c.1451C>T (p.Ala484Val) rs369097905 0.00014
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln) rs139499540 0.00014
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_001003841.3(SLC6A19):c.774+10C>T rs372657226 0.00014
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.8640G>A (p.Ser2880=) rs199988586 0.00014
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001039660.2(IL18BP):c.67G>A (p.Val23Ile) rs189514886 0.00014
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) rs763938391 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001041.4(SI):c.2150T>A (p.Val717Asp) rs188320908 0.00014
NM_001041.4(SI):c.325G>A (p.Val109Ile) rs149498200 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001041.4(SI):c.5109-15A>C rs371915462 0.00014
NM_001042413.2(GLIS3):c.1227C>A (p.Asn409Lys) rs534295783 0.00014
NM_001042492.3(NF1):c.3871-15C>T rs200104394 0.00014
NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg) rs557916029 0.00014
NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu) rs373048037 0.00014
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001080512.3(BICC1):c.1038A>G (p.Gln346=) rs200603263 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln) rs146358872 0.00014
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His) rs147556641 0.00014
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg) rs191391557 0.00014
NM_001113378.2(FANCI):c.-10A>G rs372076895 0.00014
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser) rs754283907 0.00014
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys) rs138822893 0.00014
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu) rs150717638 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001136193.2(FASTKD2):c.1255-7T>C rs757255885 0.00014
NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met) rs138500508 0.00014
NM_001136193.2(FASTKD2):c.889G>A (p.Val297Ile) rs373041286 0.00014
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) rs139197937 0.00014
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.9967A>G (p.Ser3323Gly) rs148357205 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu) rs200468254 0.00014
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001177316.2(SLC34A3):c.304+20C>T rs199652389 0.00014
NM_001204.7(BMPR2):c.*6731G>A rs184637642 0.00014
NM_001204.7(BMPR2):c.726C>T (p.Asn242=) rs151044452 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=) rs756547568 0.00014
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=) rs368695667 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp) rs182102510 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys) rs373029180 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) rs200171461 0.00014
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys) rs535382401 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val) rs1445492577 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778 0.00014
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met) rs201116208 0.00014
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln) rs371410741 0.00014
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala) rs775049569 0.00014
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln) rs369759751 0.00014
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu) rs371863168 0.00014
NM_001735.3(C5):c.2715T>C (p.Ile905=) rs139794186 0.00014
NM_001735.3(C5):c.4504+4A>G rs137867011 0.00014
NM_001753.5(CAV1):c.129C>T (p.Asp43=) rs201261029 0.00014
NM_001753.5(CAV1):c.357C>T (p.Phe119=) rs201302545 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_001845.6(COL4A1):c.4151-20T>C rs112561721 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001963.6(EGF):c.1684G>C (p.Val562Leu) rs769513396 0.00014
NM_001963.6(EGF):c.3099C>T (p.Val1033=) rs144628857 0.00014
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp) rs200049537 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) rs201223945 0.00014
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala) rs146110649 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002661.5(PLCG2):c.2148C>T (p.Leu716=) rs367677388 0.00014
NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe) rs759598100 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) rs766925398 0.00014
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) rs786205846 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003227.4(TFR2):c.64G>A (p.Val22Ile) rs80338876 0.00014
NM_003239.5(TGFB3):c.-547dup rs886050802 0.00014
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_003361.4(UMOD):c.504C>T (p.Leu168=) rs369454700 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_003491.4(NAA10):c.179+20G>A rs199988253 0.00014
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_003718.5(CDK13):c.1347G>T (p.Leu449=) rs150303277 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913 0.00014
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu) rs531490912 0.00014
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=) rs370266713 0.00014
NM_004385.5(VCAN):c.6034G>A (p.Gly2012Ser) rs138550552 0.00014
NM_004407.4(DMP1):c.428C>T (p.Thr143Ile) rs370153862 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004525.3(LRP2):c.10633C>A (p.Leu3545Met) rs150920674 0.00014
NM_004525.3(LRP2):c.12923C>T (p.Thr4308Met) rs543890594 0.00014
NM_004525.3(LRP2):c.6373C>T (p.Arg2125Cys) rs375749752 0.00014
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=) rs370035430 0.00014
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_004595.5(SMS):c.114G>A (p.Ser38=) rs138924455 0.00014
NM_004629.2(FANCG):c.-1C>T rs587777946 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_004646.4(NPHS1):c.1155G>A (p.Glu385=) rs139509052 0.00014
NM_004646.4(NPHS1):c.2874G>T (p.Gly958=) rs752337753 0.00014
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp) rs142670753 0.00014
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_004795.4(KL):c.738C>T (p.His246=) rs756551415 0.00014
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) rs755729966 0.00014
NM_004836.7(EIF2AK3):c.149C>T (p.Ala50Val) rs766276341 0.00014
NM_004933.3(CDH15):c.2369C>T (p.Ala790Val) rs146594802 0.00014
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005157.6(ABL1):c.2117G>T (p.Gly706Val) rs34634745 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg) rs34604640 0.00014
NM_005506.4(SCARB2):c.424-5C>T rs192876326 0.00014
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00014
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg) rs371730091 0.00014
NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys) rs368006874 0.00014
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) rs146305558 0.00014
NM_005751.5(AKAP9):c.7212C>T (p.Thr2404=) rs146854871 0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283 0.00014
NM_006059.4(LAMC3):c.1217C>T (p.Thr406Met) rs374994541 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) rs377029115 0.00014
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala) rs146536985 0.00014
NM_006642.5(SDCCAG8):c.929+17G>A rs376439930 0.00014
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 0.00014
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_006662.3(SRCAP):c.492+12G>A rs200528955 0.00014
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=) rs777936953 0.00014
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
NM_006929.5(SKIC2):c.585C>T (p.Asp195=) rs145042380 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_012079.6(DGAT1):c.751+2T>C rs148665132 0.00014
NM_012301.4(MAGI2):c.2660G>A (p.Arg887His) rs200068841 0.00014
NM_012301.4(MAGI2):c.3739G>A (p.Ala1247Thr) rs555798505 0.00014
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) rs766894762 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met) rs201618022 0.00014
NM_014317.5(PDSS1):c.719G>A (p.Arg240His) rs140972175 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu) rs372565083 0.00014
NM_015102.5(NPHP4):c.3352G>A (p.Val1118Met) rs368703067 0.00014
NM_015102.5(NPHP4):c.4099G>A (p.Asp1367Asn) rs367636423 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val) rs760807984 0.00014
NM_015909.4(NBAS):c.6022A>G (p.Ile2008Val) rs370669818 0.00014
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) rs200145797 0.00014
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu) rs140129512 0.00014
NM_016335.6(PRODH):c.873C>T (p.Ile291=) rs146652616 0.00014
NM_017415.3(KLHL3):c.1321+10C>T rs145091610 0.00014
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_017565.4(FAM20A):c.792C>T (p.Ile264=) rs139591838 0.00014
NM_017570.5(OPLAH):c.714C>T (p.Asp238=) rs372974283 0.00014
NM_017636.4(TRPM4):c.754C>T (p.Arg252Cys) rs771728837 0.00014
NM_017662.5(TRPM6):c.5709G>A (p.Leu1903=) rs143047185 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_017947.4(MOCOS):c.1798-19C>T rs201335005 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_018979.4(WNK1):c.1044C>T (p.Arg348=) rs201400797 0.00014
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp) rs371272274 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr) rs73064420 0.00014
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle) rs774522001 0.00014
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_020937.4(FANCM):c.291C>G (p.His97Gln) rs369609574 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_020937.4(FANCM):c.5341-19G>A rs375732305 0.00014
NM_020975.6(RET):c.1668C>G (p.Ser556=) rs141771814 0.00014
NM_020975.6(RET):c.3006C>T (p.Ser1002=) rs370970483 0.00014
NM_020987.5(ANK3):c.2555G>A (p.Arg852His) rs190358169 0.00014
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) rs369894677 0.00014
NM_021098.3(CACNA1H):c.1119+6C>T rs372159580 0.00014
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075 0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_021098.3(CACNA1H):c.3969+12A>G rs200138472 0.00014
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=) rs369051137 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_022042.4(SLC26A1):c.315C>G (p.Ser105=) rs377636525 0.00014
NM_022042.4(SLC26A1):c.535C>T (p.Arg179Cys) rs370208644 0.00014
NM_022051.3(EGLN1):c.41G>A (p.Ser14Asn) rs761497751 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_022489.4(INF2):c.306C>T (p.Val102=) rs748335660 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_024514.5(CYP2R1):c.1330+17G>A rs782405402 0.00014
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr) rs200183599 0.00014
NM_024642.5(GALNT12):c.329G>A (p.Arg110His) rs374994372 0.00014
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) rs202020647 0.00014
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=) rs367736746 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=) rs375966721 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032387.5(WNK4):c.92C>A (p.Ala31Glu) rs370527167 0.00014
NM_032409.3(PINK1):c.177C>T (p.Val59=) rs766471374 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) rs200949109 0.00014
NM_057176.3(BSND):c.282C>T (p.Pro94=) rs776609285 0.00014
NM_057176.3(BSND):c.763G>C (p.Glu255Gln) rs148609746 0.00014
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn) rs368442314 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_138694.4(PKHD1):c.5692A>G (p.Asn1898Asp) rs756825030 0.00014
NM_139125.4(MASP1):c.1187C>T (p.Ser396Phe) rs199907557 0.00014
NM_144773.4(PROKR2):c.376G>A (p.Val126Met) rs200048973 0.00014
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) rs142671417 0.00014
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg) rs762033637 0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
NM_173477.5(USH1G):c.-2C>T rs758940726 0.00014
NM_173551.5(ANKS6):c.2142+14G>T rs545751955 0.00014
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_175875.5(SIX5):c.1042C>T (p.Leu348=) rs779368770 0.00014
NM_175875.5(SIX5):c.492C>T (p.Tyr164=) rs372293937 0.00014
NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu) rs146989750 0.00014
NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser) rs199823733 0.00014
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr) rs140725181 0.00014
NM_182476.3(COQ6):c.917T>C (p.Phe306Ser) rs767940412 0.00014
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_198252.3(GSN):c.1538G>A (p.Arg513His) rs148410442 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_199242.3(UNC13D):c.670C>T (p.His224Tyr) rs145607492 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_212482.4(FN1):c.1217-11G>A rs374987974 0.00014
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg) rs948696809 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213655.5(WNK1):c.3108G>A (p.Ala1036=) rs373052154 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000039.3(APOA1):c.200+19G>A rs377408912 0.00013
NM_000039.3(APOA1):c.726G>C (p.Leu242=) rs567268961 0.00013
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000075.4(CDK4):c.779T>A (p.Val260Glu) rs200215596 0.00013
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=) rs140705060 0.00013
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=) rs185493054 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000091.5(COL4A3):c.442-15T>C rs770450269 0.00013
NM_000091.5(COL4A3):c.468+8A>G rs374368957 0.00013
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=) rs185847845 0.00013
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=) rs199838682 0.00013
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) rs375109382 0.00013
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala) rs143986398 0.00013
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000187.4(HGD):c.567C>G (p.Ser189Arg) rs750428921 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000209.4(PDX1):c.296C>A (p.Pro99His) rs764870332 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000238.4(KCNH2):c.2692+7C>T rs372023163 0.00013
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.473-7C>T rs146570628 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000276.4(OCRL):c.1587C>G (p.Ala529=) rs375634816 0.00013
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00013
NM_000285.4(PEPD):c.858C>T (p.Ser286=) rs375354020 0.00013
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000314.6(PTEN):c.-859A>G rs876661029 0.00013
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_000316.3(PTH1R):c.1672C>T (p.Pro558Ser) rs201625204 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000337.6(SGCD):c.*1856A>T rs886060295 0.00013
NM_000337.6(SGCD):c.*753C>T rs543082767 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) rs199877869 0.00013
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000379.4(XDH):c.1617G>T (p.Leu539=) rs117399514 0.00013
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.1896T>G (p.Phe632Leu) rs149593992 0.00013
NM_000379.4(XDH):c.2102A>T (p.Asp701Val) rs527413763 0.00013
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn) rs148126873 0.00013
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr) rs144622446 0.00013
NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg) rs149323475 0.00013
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000497.4(CYP11B1):c.395+10G>A rs768465089 0.00013
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile) rs150230127 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) rs553500083 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000789.4(ACE):c.3321T>G (p.Thr1107=) rs144974035 0.00013
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=) rs183090717 0.00013
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00013
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001037333.3(CYFIP2):c.3405C>T (p.Phe1135=) rs267600516 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln) rs200694226 0.00013
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001080512.3(BICC1):c.2828C>T (p.Ser943Leu) rs145960427 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser) rs761479779 0.00013
NM_001103.4(ACTN2):c.*128G>A rs142016713 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001126049.2(KLLN):c.-777C>T rs961642255 0.00013
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) rs763414737 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=) rs144137525 0.00013
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met) rs62313245 0.00013
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=) rs150176604 0.00013
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His) rs373068293 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) rs779996703 0.00013
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His) rs368634670 0.00013
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg) rs370928582 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr) rs34318718 0.00013
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) rs200928002 0.00013
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) rs138530475 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 0.00013
NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr) rs150673063 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00013
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys) rs200578734 0.00013
NM_001365999.1(SZT2):c.653C>T (p.Ser218Leu) rs376862612 0.00013
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) rs199936956 0.00013
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453 0.00013
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 0.00013
NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg) rs375951503 0.00013
NM_001382347.1(MYO5A):c.4555+2C>T rs201961375 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00013
NM_001384479.1(AGT):c.862C>T rs61762530 0.00013
NM_001395656.1(ROBO2):c.218C>G (p.Thr73Ser) rs141593508 0.00013
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) rs369935650 0.00013
NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser) rs142881463 0.00013
NM_001735.3(C5):c.4016A>G (p.Glu1339Gly) rs569871287 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001963.6(EGF):c.2858-11G>T rs370698699 0.00013
NM_001963.6(EGF):c.464G>A (p.Ser155Asn) rs150361543 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985 0.00013
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401 0.00013
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 0.00013
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_002497.4(NEK2):c.725A>C (p.Asp242Ala) rs148642058 0.00013
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_002661.5(PLCG2):c.1116T>C (p.His372=) rs369732261 0.00013
NM_002661.5(PLCG2):c.1383A>G (p.Arg461=) rs369098550 0.00013
NM_002661.5(PLCG2):c.1569T>A (p.Pro523=) rs199708049 0.00013
NM_002661.5(PLCG2):c.2913C>T (p.Pro971=) rs377752384 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_003124.5(SPR):c.654G>A (p.Met218Ile) rs150078285 0.00013
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr) rs7252811 0.00013
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_003361.4(UMOD):c.599G>A (p.Arg200His) rs940287917 0.00013
NM_003482.4(KMT2D):c.15558C>T (p.His5186=) rs2024 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=) rs146077876 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg) rs756260598 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_004407.4(DMP1):c.135+1G>T rs141480996 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) rs146978168 0.00013
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp) rs143413559 0.00013
NM_004525.3(LRP2):c.9432G>A (p.Met3144Ile) rs566869929 0.00013
NM_004560.4(ROR2):c.1524G>A (p.Thr508=) rs114395148 0.00013
NM_004560.4(ROR2):c.1601C>A (p.Pro534His) rs762554351 0.00013
NM_004560.4(ROR2):c.1940A>G (p.Lys647Arg) rs369059394 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004628.5(XPC):c.1022C>T (p.Ala341Val) rs192285219 0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 0.00013
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=) rs139162351 0.00013
NM_004944.4(DNASE1L3):c.152G>A (p.Arg51His) rs372315713 0.00013
NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His) rs370199714 0.00013
NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn) rs368888160 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005411.5(SFTPA1):c.724C>T (p.Arg242Ter) rs4253528 0.00013
NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys) rs145031602 0.00013
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro) rs139337441 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202 0.00013
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg) rs202102671 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val) rs372935354 0.00013
NM_006514.4(SCN10A):c.2737G>A (p.Ala913Thr) rs201054824 0.00013
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys) rs143744796 0.00013
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met) rs772484960 0.00013
NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile) rs748447295 0.00013
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) rs370543242 0.00013
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00013
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=) rs754767509 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser) rs149708395 0.00013
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His) rs138086959 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
NM_014967.5(FAN1):c.1090A>C (p.Asn364His) rs187082481 0.00013
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00013
NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) rs749571139 0.00013
NM_015102.5(NPHP4):c.274A>G (p.Asn92Asp) rs762383978 0.00013
NM_015102.5(NPHP4):c.3996+3C>T rs373386232 0.00013
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys) rs755124987 0.00013
NM_015120.4(ALMS1):c.-64C>T rs886056293 0.00013
NM_015158.5(KANK1):c.1533T>C (p.Val511=) rs199881654 0.00013
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) rs370250575 0.00013
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) rs115382946 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_016360.4(TACO1):c.873C>T (p.His291=) rs370007551 0.00013
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val) rs151254539 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_017649.5(CNNM2):c.804G>T (p.Leu268=) rs148386496 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) rs201046385 0.00013
NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys) rs369183237 0.00013
NM_017827.4(SARS2):c.448G>A (p.Val150Ile) rs143847153 0.00013
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974 0.00013
NM_018417.6(ADCY10):c.4547T>C (p.Leu1516Pro) rs186485513 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00013
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser) rs556886570 0.00013
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) rs762637141 0.00013
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_021098.3(CACNA1H):c.3363+12C>G rs749123905 0.00013
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625 0.00013
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) rs148638909 0.00013
NM_022042.4(SLC26A1):c.1152C>T (p.Asn384=) rs140876735 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_022356.4(P3H1):c.426G>T (p.Lys142Asn) rs200334947 0.00013
NM_022369.4(STRA6):c.1970C>T (p.Thr657Met) rs144043304 0.00013
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=) rs184549196 0.00013
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 0.00013
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024884.3(L2HGDH):c.586C>T (p.Arg196Trp) rs368140834 0.00013
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) rs370907958 0.00013
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) rs374199052 0.00013
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile) rs368492668 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=) rs75195840 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln) rs747054427 0.00013
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln) rs146359866 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152743.4(BRAT1):c.1939G>T (p.Asp647Tyr) rs751770538 0.00013
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_172201.2(KCNE2):c.-13+5G>A rs786205806 0.00013
NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu) rs373048342 0.00013
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998 0.00013
NM_198076.6(COX20):c.205G>A (p.Val69Met) rs185166083 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly) rs149668719 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) rs368122904 0.00013
NM_201596.3(CACNB2):c.102G>T (p.Ala34=) rs370839320 0.00013
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00013
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln) rs145484598 0.00013
NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp) rs142322683 0.00013
NM_207361.6(FREM2):c.6421G>A (p.Glu2141Lys) rs376602370 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) rs765895186 0.00012
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=) rs373720128 0.00012
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=) rs141793628 0.00012
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056 0.00012
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) rs66583685 0.00012
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) rs1357043267 0.00012
NM_000234.3(LIG1):c.778C>T (p.Pro260Ser) rs759755473 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000278.5(PAX2):c.411-11C>T rs541291517 0.00012
NM_000311.5(PRNP):c.306G>A (p.Pro102=) rs370426100 0.00012
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572 0.00012
NM_000337.6(SGCD):c.*6127G>A rs527412372 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) rs141643222 0.00012
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_000363.5(TNNI3):c.132G>C (p.Ser44=) rs727504941 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000379.4(XDH):c.1912G>A (p.Ala638Thr) rs202112369 0.00012
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464 0.00012
NM_000384.3(APOB):c.5434G>T (p.Gly1812Trp) rs140174653 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) rs373570586 0.00012
NM_000428.3(LTBP2):c.4877C>T (p.Pro1626Leu) rs141230498 0.00012
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=) rs370177269 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000478.6(ALPL):c.914C>T (p.Thr305Met) rs146908399 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_000789.4(ACE):c.2483T>C (p.Met828Thr) rs13306091 0.00012
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001036.6(RYR3):c.923G>A (p.Arg308Gln) rs201830013 0.00012
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=) rs201584313 0.00012
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_001046.3(SLC12A2):c.1773+15T>C rs199958255 0.00012
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=) rs140405116 0.00012
NM_001080512.3(BICC1):c.2016-19C>T rs376910741 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001085487.3(MYSM1):c.2031+8A>G rs201679870 0.00012
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys) rs202131320 0.00012
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001144967.3(NEDD4L):c.2488-20del rs752322832 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=) rs140559114 0.00012
NM_001202.6(BMP4):c.668G>A (p.Arg223His) rs766285160 0.00012
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg) rs373717147 0.00012
NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln) rs200840068 0.00012
NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn) rs369716341 0.00012
NM_001330078.2(NRXN1):c.3365-109899A>G rs562219421 0.00012
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys) rs148699393 0.00012
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) rs761030884 0.00012
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301 0.00012
NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys) rs200561413 0.00012
NM_001375978.1(CHRM3):c.681T>C (p.Ser227=) rs199549014 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) rs938547995 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.834+15G>A rs373984590 0.00012
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) rs145378102 0.00012
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn) rs141234041 0.00012
NM_001482.3(GATM):c.801A>C (p.Ala267=) rs371507418 0.00012
NM_001680.5(FXYD2):c.176G>A (p.Arg59Lys) rs139816783 0.00012
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile) rs368854893 0.00012
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala) rs149910460 0.00012
NM_001735.3(C5):c.1424C>T (p.Ala475Val) rs151271738 0.00012
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.606C>T (p.Thr202=) rs754333091 0.00012
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn) rs140193292 0.00012
NM_001943.5(DSG2):c.81+17A>G rs547399759 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) rs371521698 0.00012
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) rs369750762 0.00012
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655 0.00012
NM_002292.4(LAMB2):c.2488+6C>G rs371384656 0.00012
NM_002292.4(LAMB2):c.2720+11A>G rs370034592 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn) rs367993015 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_002661.5(PLCG2):c.1557+14C>G rs372814853 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu) rs138097741 0.00012
NM_003183.6(ADAM17):c.2280C>T (p.Asp760=) rs371018540 0.00012
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln) rs199957863 0.00012
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_003640.5(ELP1):c.2205-7C>T rs148221146 0.00012
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr) rs151120244 0.00012
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) rs200337116 0.00012
NM_004366.6(CLCN2):c.221-8G>A rs769713180 0.00012
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004525.3(LRP2):c.4691+16A>T rs201303681 0.00012
NM_004525.3(LRP2):c.9177C>T (p.Asp3059=) rs763193608 0.00012
NM_004525.3(LRP2):c.975G>A (p.Pro325=) rs368492082 0.00012
NM_004646.4(NPHS1):c.1012+17G>C rs373353156 0.00012
NM_004646.4(NPHS1):c.558C>T (p.Asn186=) rs370625224 0.00012
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His) rs777171158 0.00012
NM_004836.7(EIF2AK3):c.530C>T (p.Thr177Ile) rs187776572 0.00012
NM_004836.7(EIF2AK3):c.556T>C (p.Tyr186His) rs200991366 0.00012
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) rs112132596 0.00012
NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys) rs774652175 0.00012
NM_005026.5(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223 0.00012
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005257.6(GATA6):c.735G>A (p.Gly245=) rs1031755167 0.00012
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005562.3(LAMC2):c.2777G>A (p.Arg926His) rs201251711 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) rs150794709 0.00012
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) rs549642537 0.00012
NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln) rs186883352 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) rs141211769 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly) rs367952819 0.00012
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012210.4(TRIM32):c.863C>A (p.Pro288His) rs367574371 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu) rs374369335 0.00012
NM_014000.3(VCL):c.*212C>A rs757322860 0.00012
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) rs199564404 0.00012
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00012
NM_014425.5(INVS):c.1787A>G (p.Lys596Arg) rs751587570 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_015102.5(NPHP4):c.1376C>A (p.Thr459Lys) rs371819898 0.00012
NM_015102.5(NPHP4):c.2603G>A (p.Ser868Asn) rs763576044 0.00012
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) rs150303132 0.00012
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys) rs375995525 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr) rs146122441 0.00012
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_017827.4(SARS2):c.136G>A (p.Glu46Lys) rs142446687 0.00012
NM_017947.4(MOCOS):c.354C>T (p.Ala118=) rs777970237 0.00012
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) rs201858385 0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140 0.00012
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=) rs371448826 0.00012
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_020381.4(PDSS2):c.702+16G>A rs200017192 0.00012
NM_020831.6(MRTFA):c.1907C>T (p.Ala636Val) rs376881633 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) rs189856413 0.00012
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=) rs368956894 0.00012
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) rs773501953 0.00012
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=) rs940068732 0.00012
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys) rs376607278 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr) rs139592817 0.00012
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=) rs61730553 0.00012
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val) rs183071230 0.00012
NM_025114.4(CEP290):c.904A>G (p.Ile302Val) rs764495570 0.00012
NM_030773.4(TUBB1):c.965C>T (p.Ser322Phe) rs147941536 0.00012
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met) rs138314289 0.00012
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu) rs373586019 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly) rs375451955 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092 0.00012
NM_144585.4(SLC22A12):c.1075G>A (p.Ala359Thr) rs201322494 0.00012
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) rs762406949 0.00012
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144773.4(PROKR2):c.156C>T (p.Ala52=) rs775513724 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser) rs550402717 0.00012
NM_178170.3(NEK8):c.1632G>C (p.Val544=) rs766110309 0.00012
NM_178170.3(NEK8):c.880C>T (p.Arg294Cys) rs146113045 0.00012
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) rs202027034 0.00012
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) rs368537807 0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) rs144099356 0.00012
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg) rs201801499 0.00012
NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr) rs143710836 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met) rs377252521 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr) rs192340937 0.00012
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys) rs553816676 0.00012
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_212482.4(FN1):c.6158-7C>T rs372760499 0.00012
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys) rs190464963 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000054.7(AVPR2):c.474G>A (p.Arg158=) rs368544649 0.00011
NM_000064.4(C3):c.1027C>T (p.Arg343Cys) rs772505177 0.00011
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) rs200967589 0.00011
NM_000064.4(C3):c.1480-10G>A rs200390075 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2204G>A (p.Arg735Gln) rs201285239 0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=) rs150763358 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000065.5(C6):c.1205T>C (p.Ile402Thr) rs139261476 0.00011
NM_000067.3(CA2):c.534C>T (p.Phe178=) rs17850824 0.00011
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile) rs368585092 0.00011
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr) rs142042452 0.00011
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401 0.00011
NM_000092.5(COL4A4):c.2546-6T>C rs199710625 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln) rs201196696 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000168.6(GLI3):c.367+20G>A rs371365628 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000210.4(ITGA6):c.258C>T (p.Cys86=) rs200919733 0.00011
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp) rs200122430 0.00011
NM_000214.3(JAG1):c.1885+12T>C rs377670685 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) rs904066540 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr) rs397516015 0.00011
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly) rs370554185 0.00011
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_000257.4(MYH7):c.5656-4G>A rs397516250 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 0.00011
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) rs139741458 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) rs142805170 0.00011
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000316.3(PTH1R):c.749T>C (p.Leu250Pro) rs547682383 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000337.6(SGCD):c.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) rs142886182 0.00011
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) rs144177117 0.00011
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu) rs772354744 0.00011
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) rs202077714 0.00011
NM_000384.3(APOB):c.36G>T (p.Leu12=) rs1431567486 0.00011
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr) rs780170292 0.00011
NM_000384.3(APOB):c.5650A>G (p.Asn1884Asp) rs146472818 0.00011
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_000384.3(APOB):c.7006G>A (p.Ala2336Thr) rs146888928 0.00011
NM_000384.3(APOB):c.7759G>C (p.Val2587Leu) rs375855688 0.00011
NM_000384.3(APOB):c.8855G>T (p.Gly2952Val) rs369472561 0.00011
NM_000384.3(APOB):c.890G>A (p.Arg297His) rs147223101 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) rs367560743 0.00011
NM_000417.3(IL2RA):c.499G>A (p.Val167Ile) rs147791171 0.00011
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala) rs781367427 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=) rs377533549 0.00011
NM_000789.4(ACE):c.3381-4C>T rs201962955 0.00011
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=) rs201416473 0.00011
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=) rs201319850 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) rs149430403 0.00011
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00011
NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu) rs543881691 0.00011
NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met) rs200083160 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu) rs201612742 0.00011
NM_001042413.2(GLIS3):c.1994G>A (p.Ser665Asn) rs199817194 0.00011
NM_001042475.3(CEP85L):c.1020+5442A>T rs528466147 0.00011
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) rs367694835 0.00011
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001080512.3(BICC1):c.2411G>A (p.Arg804His) rs372894085 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00011
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) rs200345386 0.00011
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu) rs145986920 0.00011
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile) rs138030555 0.00011
NM_001105206.3(LAMA4):c.3283-3C>G rs374159760 0.00011
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His) rs782638314 0.00011
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val) rs141372605 0.00011
NM_001122681.2(SH3BP2):c.724del (p.His242fs) rs747250901 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys) rs562953157 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=) rs376045225 0.00011
NM_001144967.3(NEDD4L):c.252A>G (p.Pro84=) rs368888932 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001148.6(ANK2):c.11641A>G (p.Thr3881Ala) rs373688313 0.00011
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe) rs147619875 0.00011
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu) rs372534074 0.00011
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) rs370022963 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) rs200513114 0.00011
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=) rs775705878 0.00011
NM_001177316.2(SLC34A3):c.1069G>A (p.Val357Ile) rs557760566 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.995T>C (p.Leu332Pro) rs765668692 0.00011
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001204.7(BMPR2):c.*7273G>A rs774176078 0.00011
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) rs150812908 0.00011
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu) rs200416428 0.00011
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995 0.00011
NM_001232.3(CASQ2):c.-225G>A rs535999427 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.100766-11T>C rs761345673 0.00011
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val) rs377290301 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.25063+18C>T rs541890371 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=) rs72648204 0.00011
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg) rs376403373 0.00011
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) rs876658096 0.00011
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln) rs372325290 0.00011
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu) rs772913999 0.00011
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001286445.3(RIPOR2):c.502-10A>C rs199905499 0.00011
NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=) rs138449875 0.00011
NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr) rs17009858 0.00011
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) rs552372867 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001330588.2(TPP2):c.2402G>A (p.Ser801Asn) rs140329690 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys) rs149354918 0.00011
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala) rs777656293 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001369.3(DNAH5):c.360T>C (p.Asp120=) rs368412855 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=) rs372078743 0.00011
NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met) rs201246193 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser) rs748356480 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg) rs374321733 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) rs563502625 0.00011
NM_001395656.1(ROBO2):c.1296G>T (p.Thr432=) rs191732065 0.00011
NM_001414.4(EIF2B1):c.176T>C (p.Val59Ala) rs199544322 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_001680.5(FXYD2):c.183C>T (p.Ile61=) rs201669990 0.00011
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001715.3(BLK):c.809C>T (p.Thr270Met) rs368427116 0.00011
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001735.3(C5):c.3059A>G (p.Tyr1020Cys) rs768907431 0.00011
NM_001735.3(C5):c.423A>G (p.Val141=) rs545714459 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478 0.00011
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_002204.4(ITGA3):c.645C>T (p.Pro215=) rs150288242 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002234.4(KCNA5):c.28A>G (p.Asn10Asp) rs894679405 0.00011
NM_002246.3(KCNK3):c.946A>G (p.Lys316Glu) rs142003111 0.00011
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147 0.00011
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781 0.00011
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=) rs140142444 0.00011
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524 0.00011
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg) rs193247849 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=) rs202207765 0.00011
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=) rs372930578 0.00011
NM_002335.4(LRP5):c.4111+19C>T rs377000624 0.00011
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=) rs139755343 0.00011
NM_002335.4(LRP5):c.714G>A (p.Thr238=) rs149522146 0.00011
NM_002386.4(MC1R):c.577G>A (p.Val193Met) rs527673999 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002471.4(MYH6):c.2973C>T (p.Ile991=) rs374807345 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu) rs757270167 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002661.5(PLCG2):c.3396G>A (p.Leu1132=) rs201475640 0.00011
NM_002691.4(POLD1):c.1785C>T (p.Asp595=) rs769563176 0.00011
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_002906.4(RDX):c.471A>G (p.Val157=) rs376917034 0.00011
NM_002968.3(SALL1):c.361A>G (p.Arg121Gly) rs377440481 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003355.3(UCP2):c.79G>A (p.Ala27Thr) rs201315561 0.00011
NM_003361.4(UMOD):c.1383G>A (p.Ala461=) rs147222401 0.00011
NM_003401.5(XRCC4):c.140-4A>G rs143971157 0.00011
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) rs111868331 0.00011
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=) rs368631309 0.00011
NM_003590.5(CUL3):c.543C>T (p.Gly181=) rs17480168 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr) rs375023861 0.00011
NM_003803.4(MYOM1):c.1168C>T (p.Leu390Phe) rs758497000 0.00011
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser) rs150233754 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004048.4(B2M):c.340A>C (p.Lys114Gln) rs372078625 0.00011
NM_004070.4(CLCNKA):c.867-8C>T rs200325856 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_004104.5(FASN):c.1024G>T (p.Ala342Ser) rs760665615 0.00011
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_004366.6(CLCN2):c.726C>T (p.Ala242=) rs768569603 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004482.4(GALNT3):c.1194A>G (p.Val398=) rs150937941 0.00011
NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile) rs371014686 0.00011
NM_004525.3(LRP2):c.12476C>T (p.Ser4159Leu) rs147846992 0.00011
NM_004525.3(LRP2):c.12988+18T>C rs201970419 0.00011
NM_004525.3(LRP2):c.1342-13G>A rs372705473 0.00011
NM_004525.3(LRP2):c.2639C>T (p.Ala880Val) rs761993567 0.00011
NM_004525.3(LRP2):c.2987G>A (p.Arg996Gln) rs201115003 0.00011
NM_004525.3(LRP2):c.6689C>T (p.Ser2230Leu) rs374860840 0.00011
NM_004525.3(LRP2):c.8277C>T (p.Arg2759=) rs546544412 0.00011
NM_004525.3(LRP2):c.8609A>G (p.Gln2870Arg) rs760630762 0.00011
NM_004560.4(ROR2):c.1885G>A (p.Val629Met) rs148844963 0.00011
NM_004560.4(ROR2):c.2586C>T (p.His862=) rs56158629 0.00011
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.2502C>T (p.Thr834=) rs147748913 0.00011
NM_004795.4(KL):c.2682C>T (p.Tyr894=) rs144132270 0.00011
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) rs372396071 0.00011
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) rs121434540 0.00011
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala) rs201928908 0.00011
NM_004998.4(MYO1E):c.3081-6C>T rs201630409 0.00011
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903 0.00011
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005055.5(RAPSN):c.-23G>A rs370356548 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) rs121434492 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_005751.5(AKAP9):c.1226A>C (p.His409Pro) rs138535219 0.00011
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) rs147302252 0.00011
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile) rs561591139 0.00011
NM_005751.5(AKAP9):c.7628T>C (p.Leu2543Pro) rs373320584 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_006005.3(WFS1):c.1752G>A (p.Gln584=) rs76577786 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006059.4(LAMC3):c.3487G>A (p.Ala1163Thr) rs374675268 0.00011
NM_006073.4(TRDN):c.23-19T>G rs370102595 0.00011
NM_006180.6(NTRK2):c.1962G>A (p.Leu654=) rs147669506 0.00011
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val) rs145019788 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006261.5(PROP1):c.46C>G (p.Arg16Gly) rs140016178 0.00011
NM_006514.4(SCN10A):c.1277G>A (p.Arg426Gln) rs143033805 0.00011
NM_006514.4(SCN10A):c.2266C>T (p.Arg756Trp) rs374341474 0.00011
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00011
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu) rs368577129 0.00011
NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) rs35429253 0.00011
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) rs375436807 0.00011
NM_006947.4(SRP72):c.623G>A (p.Arg208His) rs369761160 0.00011
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_012120.3(CD2AP):c.1641G>A (p.Val547=) rs375173164 0.00011
NM_012120.3(CD2AP):c.182C>T (p.Thr61Met) rs142628238 0.00011
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser) rs369612645 0.00011
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val) rs372808360 0.00011
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) rs377404952 0.00011
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) rs369033938 0.00011
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559 0.00011
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014249.4(NR2E3):c.223G>A (p.Val75Ile) rs750284532 0.00011
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met) rs146154087 0.00011
NM_014270.5(SLC7A9):c.45G>A (p.Ser15=) rs146359100 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu) rs200018415 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014780.5(CUL7):c.2230G>A (p.Val744Met) rs547138217 0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) rs144069125 0.00011
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln) rs137987733 0.00011
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu) rs146456836 0.00011
NM_015102.5(NPHP4):c.2642C>T (p.Ala881Val) rs369335626 0.00011
NM_015102.5(NPHP4):c.280-4G>A rs190495420 0.00011
NM_015102.5(NPHP4):c.3011C>T (p.Thr1004Met) rs528511138 0.00011
NM_015102.5(NPHP4):c.3044+11A>C rs778862383 0.00011
NM_015102.5(NPHP4):c.3052G>A (p.Val1018Met) rs201433248 0.00011
NM_015141.4(GPD1L):c.959+11C>T rs370985609 0.00011
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) rs776592186 0.00011
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) rs114109003 0.00011
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp) rs376720589 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln) rs200017350 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) rs373098915 0.00011
NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp) rs150467144 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_017415.3(KLHL3):c.606C>T (p.Ser202=) rs151050480 0.00011
NM_017565.4(FAM20A):c.404+18G>A rs773191671 0.00011
NM_017565.4(FAM20A):c.984T>C (p.Ala328=) rs374633547 0.00011
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) rs373169020 0.00011
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys) rs782533601 0.00011
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_017636.4(TRPM4):c.338G>A (p.Arg113His) rs149335121 0.00011
NM_017662.5(TRPM6):c.4153G>T (p.Val1385Phe) rs201256788 0.00011
NM_017662.5(TRPM6):c.5216C>G (p.Thr1739Ser) rs141933515 0.00011
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017909.4(RMND1):c.260G>A (p.Arg87His) rs142059662 0.00011
NM_017909.4(RMND1):c.690-20C>G rs770275231 0.00011
NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) rs142150953 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018417.6(ADCY10):c.1260C>T (p.Tyr420=) rs190879038 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_018965.3(TREM2):c.-98C>T rs558304800 0.00011
NM_018979.4(WNK1):c.490C>T (p.Arg164Cys) rs201939737 0.00011
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=) rs202218761 0.00011
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) rs549907428 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) rs375894182 0.00011
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=) rs41292281 0.00011
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856 0.00011
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=) rs766161313 0.00011
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) rs56930579 0.00011
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=) rs536342720 0.00011
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His) rs374847612 0.00011
NM_021098.3(CACNA1H):c.3744+8C>T rs373354560 0.00011
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met) rs747265858 0.00011
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=) rs748968251 0.00011
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys) rs540654499 0.00011
NM_022042.4(SLC26A1):c.1385G>A (p.Arg462Gln) rs201608921 0.00011
NM_022042.4(SLC26A1):c.1520G>A (p.Arg507His) rs375487522 0.00011
NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=) rs144567476 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.2053-16G>A rs371712402 0.00011
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.2367G>A (p.Thr789=) rs368194536 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.844-6G>A rs370399987 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_025074.7(FRAS1):c.2070C>T (p.Ile690=) rs531800217 0.00011
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00011
NM_025074.7(FRAS1):c.783C>T (p.Cys261=) rs374802344 0.00011
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys) rs779666225 0.00011
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg) rs377000187 0.00011
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu) rs368428115 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_025114.4(CEP290):c.6960+9C>T rs373226012 0.00011
NM_025114.4(CEP290):c.93C>T (p.Ser31=) rs375955381 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr) rs762311530 0.00011
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) rs201214741 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.18710C>T (p.Thr6237Met) rs376428763 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_032444.4(SLX4):c.2335G>A (p.Val779Met) rs768126392 0.00011
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys) rs770020510 0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu) rs140417509 0.00011
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_032578.4(MYPN):c.2742T>C (p.Asn914=) rs372375235 0.00011
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His) rs372512501 0.00011
NM_032977.4(CASP10):c.922+5G>A rs559244194 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_052874.5(STX1B):c.786+6C>T rs750134526 0.00011
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_053025.4(MYLK):c.-4G>A rs989215521 0.00011
NM_057176.3(BSND):c.831G>A (p.Glu277=) rs143916830 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) rs145919543 0.00011
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His) rs374233100 0.00011
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512 0.00011
NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile) rs145156267 0.00011
NM_145038.5(DRC1):c.1124G>A (p.Arg375His) rs141347582 0.00011
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) rs200386096 0.00011
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe) rs760792770 0.00011
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser) rs201587931 0.00011
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017 0.00011
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly) rs748305494 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) rs201416355 0.00011
NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) rs1022019420 0.00011
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) rs202244716 0.00011
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu) rs375084239 0.00011
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_177924.5(ASAH1):c.-219A>T rs539981182 0.00011
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) rs752331372 0.00011
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374 0.00011
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) rs141981005 0.00011
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His) rs139915002 0.00011
NM_198252.3(GSN):c.2046G>A (p.Thr682=) rs747385746 0.00011
NM_198252.3(GSN):c.2082C>T (p.Thr694=) rs368986042 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile) rs139303948 0.00011
NM_198428.3(BBS9):c.2022G>T (p.Arg674=) rs561957887 0.00011
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) rs146770174 0.00011
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) rs369647403 0.00011
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_198578.4(LRRK2):c.2229T>G (p.Ser743=) rs200425243 0.00011
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) rs779451259 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206937.2(LIG4):c.1705A>G (p.Met569Val) rs774699419 0.00011
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) rs565714281 0.00011
NM_212482.4(FN1):c.5977+7A>G rs373840022 0.00011
NM_212482.4(FN1):c.6459G>A (p.Pro2153=) rs372396685 0.00011
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000092.5(COL4A4):c.595-18G>A rs372991861 0.00010
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln) rs568498471 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000096.4(CP):c.1927G>A (p.Val643Met) rs143775161 0.00010
NM_000096.4(CP):c.929G>A (p.Arg310His) rs202217551 0.00010
NM_000110.4(DPYD):c.345G>C (p.Met115Ile) rs377169736 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) rs140479817 0.00010
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg) rs140930313 0.00010
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) rs373278372 0.00010
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_000219.6(KCNE1):c.*1447C>G rs886057020 0.00010
NM_000219.6(KCNE1):c.*1859G>A rs754021039 0.00010
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00010
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=) rs557789224 0.00010
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000251.3(MSH2):c.-181G>A rs786201698 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=) rs372336857 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 0.00010
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys) rs775576991 0.00010
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00010
NM_000337.6(SGCD):c.*8380A>G rs556296196 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_000359.3(TGM1):c.100C>T (p.Arg34Cys) rs149148326 0.00010
NM_000359.3(TGM1):c.2029G>A (p.Gly677Arg) rs758380663 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.328G>A (p.Gly110Ser) rs147286954 0.00010
NM_000382.3(ALDH3A2):c.65T>C (p.Phe22Ser) rs751631165 0.00010
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00010
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln) rs61742990 0.00010
NM_000384.3(APOB):c.2123A>G (p.Gln708Arg) rs371190827 0.00010
NM_000384.3(APOB):c.5137G>T (p.Ala1713Ser) rs769789232 0.00010
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile) rs745626701 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser) rs760556268 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala) rs778346287 0.00010
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile) rs200676634 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000527.5(LDLR):c.68-18C>G rs370599334 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897 0.00010
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899 0.00010
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00010
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00010
NM_000685.5(AGTR1):c.340G>A (p.Ala114Thr) rs140542820 0.00010
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00010
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=) rs372300407 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001003841.3(SLC6A19):c.195C>T (p.His65=) rs143165913 0.00010
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00010
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00010
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00010
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001023570.4(IQCB1):c.588-16T>A rs766712921 0.00010
NM_001023570.4(IQCB1):c.767-12A>G rs367899924 0.00010
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001035.3(RYR2):c.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_001041.4(SI):c.1378A>T (p.Ser460Cys) rs141450837 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001041.4(SI):c.4062+18T>C rs367787760 0.00010
NM_001042413.2(GLIS3):c.1326C>T (p.Asp442=) rs758928731 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001042702.5(PJVK):c.298G>A (p.Val100Ile) rs200516108 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001083961.2(WDR62):c.1696G>A (p.Val566Met) rs145392484 0.00010
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.255C>T (p.Ser85=) rs771286138 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=) rs760690845 0.00010
NM_001127217.3(SMAD9):c.781+2T>A rs770716081 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 0.00010
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) rs139909192 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001136193.2(FASTKD2):c.2014-18T>C rs749657627 0.00010
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val) rs753102215 0.00010
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln) rs374991526 0.00010
NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro) rs372212045 0.00010
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys) rs116253689 0.00010
NM_001148.6(ANK2):c.8097G>A (p.Met2699Ile) rs148904454 0.00010
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) rs769398594 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) rs536687637 0.00010
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His) rs532149239 0.00010
NM_001204.7(BMPR2):c.57G>A (p.Leu19=) rs759723251 0.00010
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001242896.3(DEPDC5):c.3264+13G>A rs377268492 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln) rs747224934 0.00010
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) rs551538420 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr) rs886038878 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys) rs763702243 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr) rs771437656 0.00010
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00010
NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly) rs748893301 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) rs765214729 0.00010
NM_001289104.2(PRKCSH):c.-77-2A>C rs201157643 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001330588.2(TPP2):c.3461A>C (p.Gln1154Pro) rs199702252 0.00010
NM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln) rs115521500 0.00010
NM_001349206.2(LPIN1):c.1923C>T (p.Arg641=) rs142023699 0.00010
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr) rs201978305 0.00010
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile) rs369279743 0.00010
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His) rs148539877 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_001370595.2(COA8):c.123+12C>T rs767933232 0.00010
NM_001370595.2(COA8):c.97G>A (p.Glu33Lys) rs549170173 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_001378414.1(HDAC4):c.111G>A (p.Ala37=) rs540431173 0.00010
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr) rs773754661 0.00010
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001379081.2(FREM1):c.6010-3A>G rs191713464 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384479.1(AGT):c.31A>C rs13306155 0.00010
NM_001384479.1(AGT):c.830-20G>A rs371187328 0.00010
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) rs756274300 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_001395656.1(ROBO2):c.204G>A (p.Gly68=) rs201531318 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_001673.5(ASNS):c.1465G>A (p.Val489Ile) rs772079299 0.00010
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val) rs372842500 0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001715.3(BLK):c.139C>G (p.Leu47Val) rs202045056 0.00010
NM_001735.3(C5):c.1541C>T (p.Thr514Met) rs199664327 0.00010
NM_001735.3(C5):c.2272T>C (p.Leu758=) rs143840189 0.00010
NM_001735.3(C5):c.3732G>A (p.Thr1244=) rs201280694 0.00010
NM_001735.3(C5):c.5011A>G (p.Ile1671Val) rs374914766 0.00010
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_001943.5(DSG2):c.523+20T>C rs775127367 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_002087.4(GRN):c.1555G>A (p.Val519Met) rs141111290 0.00010
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) rs763841075 0.00010
NM_002161.6(IARS1):c.3457T>C (p.Cys1153Arg) rs141665010 0.00010
NM_002230.4(JUP):c.-55C>T rs886052921 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002234.4(KCNA5):c.1327A>G (p.Ile443Val) rs370591031 0.00010
NM_002234.4(KCNA5):c.196C>T (p.Pro66Ser) rs368699451 0.00010
NM_002234.4(KCNA5):c.926G>A (p.Gly309Asp) rs369120527 0.00010
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002335.4(LRP5):c.1016-19A>G rs373782074 0.00010
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_002335.4(LRP5):c.4349-17C>T rs372086596 0.00010
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) rs527697723 0.00010
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=) rs374114140 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.420C>T (p.Ala140=) rs145023897 0.00010
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) rs766307207 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_003060.4(SLC22A5):c.*1214G>A rs529124788 0.00010
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052 0.00010
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_003098.2(SNTA1):c.-261C>A rs536994978 0.00010
NM_003098.2(SNTA1):c.-262C>T rs550104436 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003238.6(TGFB2):c.*589C>A rs886045981 0.00010
NM_003242.5(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His) rs373234419 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003673.3(TCAP):c.-13A>G rs368175926 0.00010
NM_003673.4(TCAP):c.*292G>A rs185210946 0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys) rs748025331 0.00010
NM_003982.4(SLC7A7):c.625+10A>G rs200420079 0.00010
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser) rs146420425 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004407.4(DMP1):c.*159T>A rs865870083 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile) rs139206747 0.00010
NM_004484.4(GPC3):c.516C>T (p.Asp172=) rs369607601 0.00010
NM_004525.3(LRP2):c.10398C>A (p.Ser3466Arg) rs148506069 0.00010
NM_004525.3(LRP2):c.12165G>C (p.Leu4055Phe) rs142650566 0.00010
NM_004525.3(LRP2):c.4045+20T>C rs202173572 0.00010
NM_004525.3(LRP2):c.4672G>A (p.Ala1558Thr) rs769548930 0.00010
NM_004530.6(MMP2):c.1634C>T (p.Ala545Val) rs143247099 0.00010
NM_004560.4(ROR2):c.1624G>A (p.Val542Met) rs140213020 0.00010
NM_004560.4(ROR2):c.1746G>A (p.Thr582=) rs201241207 0.00010
NM_004560.4(ROR2):c.97+7T>C rs377341845 0.00010
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val) rs150033580 0.00010
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln) rs77152961 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu) rs149578822 0.00010
NM_004836.7(EIF2AK3):c.2987T>G (p.Ile996Ser) rs148953825 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp) rs756003995 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser) rs200457209 0.00010
NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met) rs769575190 0.00010
NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala) rs762762940 0.00010
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) rs114686696 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) rs565287436 0.00010
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005515.4(MNX1):c.528G>A (p.Ala176=) rs752182988 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005751.5(AKAP9):c.10547G>A (p.Arg3516Lys) rs200288508 0.00010
NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn) rs541209445 0.00010
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) rs200044616 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006172.4(NPPA):c.375G>A (p.Leu125=) rs765926210 0.00010
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006642.5(SDCCAG8):c.740+14G>A rs373462087 0.00010
NM_007262.5(PARK7):c.*125G>A rs779587926 0.00010
NM_012120.3(CD2AP):c.5-20G>A rs3756935 0.00010
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00010
NM_012301.4(MAGI2):c.1717C>G (p.Pro573Ala) rs145925666 0.00010
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) rs751956751 0.00010
NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=) rs147288898 0.00010
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) rs777627496 0.00010
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_014000.3(VCL):c.*1761A>G rs886047230 0.00010
NM_014000.3(VCL):c.688C>T (p.Arg230Cys) rs139312390 0.00010
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=) rs142314193 0.00010
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser) rs528367185 0.00010
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) rs548194276 0.00010
NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn) rs144149122 0.00010
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00010
NM_014625.4(NPHS2):c.671G>A (p.Arg224His) rs138545216 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) rs139247564 0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00010
NM_014956.5(CEP164):c.534G>A (p.Gln178=) rs148498531 0.00010
NM_015102.5(NPHP4):c.1126T>G (p.Ser376Ala) rs199561679 0.00010
NM_015102.5(NPHP4):c.1541C>T (p.Pro514Leu) rs367694436 0.00010
NM_015102.5(NPHP4):c.2569C>T (p.Arg857Cys) rs372688518 0.00010
NM_015102.5(NPHP4):c.280-18C>G rs367703759 0.00010
NM_015102.5(NPHP4):c.3895G>A (p.Gly1299Ser) rs371368653 0.00010
NM_015102.5(NPHP4):c.4105C>T (p.Pro1369Ser) rs376675995 0.00010
NM_015102.5(NPHP4):c.870C>T (p.Gly290=) rs749844096 0.00010
NM_015158.5(KANK1):c.2064G>A (p.Thr688=) rs143946731 0.00010
NM_015158.5(KANK1):c.255A>G (p.Ile85Met) rs143368107 0.00010
NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala) rs142193606 0.00010
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr) rs150115249 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=) rs370197256 0.00010
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) rs141793158 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala) rs199689540 0.00010
NM_016341.4(PLCE1):c.3335A>G (p.His1112Arg) rs775231257 0.00010
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met) rs370157218 0.00010
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=) rs201482072 0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017636.4(TRPM4):c.1324C>T (p.Arg442Cys) rs148867331 0.00010
NM_017636.4(TRPM4):c.2953+5G>C rs200998908 0.00010
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_017827.4(SARS2):c.1292G>A (p.Arg431His) rs146193366 0.00010
NM_017947.4(MOCOS):c.2528T>C (p.Met843Thr) rs77657002 0.00010
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg) rs374675609 0.00010
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln) rs142110072 0.00010
NM_018419.3(SOX18):c.1149C>T (p.Ser383=) rs377287358 0.00010
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala) rs149974858 0.00010
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe) rs142104002 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_018979.4(WNK1):c.4487C>G (p.Thr1496Ser) rs763829194 0.00010
NM_018979.4(WNK1):c.4798A>G (p.Ile1600Val) rs975581838 0.00010
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_020041.3(SLC2A9):c.666C>T (p.Pro222=) rs139449249 0.00010
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His) rs376448611 0.00010
NM_020223.4(FAM20C):c.458G>A (p.Gly153Asp) rs751592577 0.00010
NM_020381.4(PDSS2):c.81G>A (p.Pro27=) rs754281828 0.00010
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr) rs746846724 0.00010
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020987.5(ANK3):c.5422A>G (p.Ile1808Val) rs151312085 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=) rs755382298 0.00010
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser) rs370675810 0.00010
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961 0.00010
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=) rs371310397 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) rs927154227 0.00010
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866 0.00010
NM_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr) rs756246013 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro) rs374946048 0.00010
NM_022489.4(INF2):c.1458C>T (p.Phe486=) rs1420347614 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) rs201285915 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_024426.6(WT1):c.1264+19C>T rs2234592 0.00010
NM_024426.6(WT1):c.849C>T (p.Thr283=) rs145425799 0.00010
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024598.4(USB1):c.387G>C (p.Leu129=) rs542658449 0.00010
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg) rs199745197 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=) rs779095746 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.4438-13T>C rs528298900 0.00010
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=) rs371582975 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu) rs200530343 0.00010
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_032856.5(WDR73):c.33C>T (p.Ser11=) rs376620550 0.00010
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) rs148387972 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg) rs761892127 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=) rs369212608 0.00010
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) rs368351830 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) rs200599637 0.00010
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp) rs372340268 0.00010
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00010
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu) rs376707182 0.00010
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe) rs375843284 0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
NM_145045.5(ODAD3):c.1606G>A (p.Glu536Lys) rs201176850 0.00010
NM_145045.5(ODAD3):c.922G>A (p.Ala308Thr) rs201899388 0.00010
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys) rs777429499 0.00010
NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407 0.00010
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser) rs369022568 0.00010
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) rs142084136 0.00010
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp) rs951093397 0.00010
NM_153240.5(NPHP3):c.981A>C (p.Arg327Ser) rs562721694 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512 0.00010
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=) rs200656157 0.00010
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) rs140348243 0.00010
NM_174936.4(PCSK9):c.*122C>T rs751118819 0.00010
NM_176824.3(BBS7):c.1511+19C>A rs201524145 0.00010
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_198076.6(COX20):c.319G>A (p.Asp107Asn) rs373502901 0.00010
NM_198129.4(LAMA3):c.9027-14G>A rs372927257 0.00010
NM_198428.3(BBS9):c.436G>A (p.Val146Ile) rs372412756 0.00010
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) rs757175418 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) rs537605467 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_207361.6(FREM2):c.2075G>A (p.Arg692His) rs367642497 0.00010
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser) rs145838840 0.00010
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) rs34043251 0.00010
NM_212482.4(FN1):c.5051-9C>A rs376036111 0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000064.4(C3):c.1686G>A (p.Ser562=) rs143750180 0.00009
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) rs373102036 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000067.3(CA2):c.541C>T (p.Arg181Cys) rs377003627 0.00009
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg) rs747461807 0.00009
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) rs121909136 0.00009
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile) rs745782009 0.00009
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) rs377136253 0.00009
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000091.5(COL4A3):c.4755+18A>G rs553695911 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000098.2(CPT2):c.-282C>T rs886046402 0.00009
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) rs373147908 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn) rs371377334 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.909-4T>G rs201884281 0.00009
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.3172+20T>C rs3136335 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) rs199996900 0.00009
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) rs528827909 0.00009
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys) rs375322422 0.00009
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile) rs139324320 0.00009
NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met) rs747376161 0.00009
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) rs147573071 0.00009
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln) rs544080483 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala) rs374412819 0.00009
NM_000249.3(MLH1):c.-42C>T rs41285097 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys) rs377171707 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.5559+5G>A rs371177871 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963 0.00009
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp) rs139485263 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met) rs777061524 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val) rs765699394 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000349.3(STAR):c.759G>A (p.Lys253=) rs146000965 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000379.4(XDH):c.2359C>T (p.Arg787Trp) rs148904866 0.00009
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_000379.4(XDH):c.429C>G (p.Phe143Leu) rs780614997 0.00009
NM_000379.4(XDH):c.482G>A (p.Arg161Gln) rs200810102 0.00009
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg) rs759043889 0.00009
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927 0.00009
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185 0.00009
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn) rs775070656 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu) rs149262370 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000478.6(ALPL):c.1455G>A (p.Ala485=) rs188443578 0.00009
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile) rs368296597 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000531.6(OTC):c.*105C>T rs1036076773 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000537.4(REN):c.533C>T (p.Thr178Met) rs147436851 0.00009
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.10824+8G>A rs374325589 0.00009
NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser) rs570010656 0.00009
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys) rs143849895 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val) rs569890286 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000548.5(TSC2):c.4006-19T>G rs200900825 0.00009
NM_000548.5(TSC2):c.481+12C>T rs777645015 0.00009
NM_000553.6(WRN):c.3623A>G (p.Lys1208Arg) rs529421538 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_000685.5(AGTR1):c.697C>A (p.Pro233Thr) rs151206107 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=) rs200363605 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000719.7(CACNA1C):c.5444+719G>A rs765829807 0.00009
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg) rs773391545 0.00009
NM_000782.5(CYP24A1):c.733-9T>C rs895309596 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000789.4(ACE):c.1020C>T (p.Pro340=) rs3730026 0.00009
NM_000860.6(HPGD):c.284A>G (p.Asn95Ser) rs199975458 0.00009
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_000918.4(P4HB):c.430G>A (p.Ala144Thr) rs138621837 0.00009
NM_001003800.2(BICD2):c.1401C>T (p.His467=) rs144442734 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) rs149659674 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=) rs372658786 0.00009
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) rs539021736 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_001039141.3(TRIOBP):c.5688-13G>C rs200079756 0.00009
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys) rs767413852 0.00009
NM_001041.4(SI):c.1686T>C (p.Tyr562=) rs763063946 0.00009
NM_001041.4(SI):c.1694G>C (p.Ser565Thr) rs149898910 0.00009
NM_001041.4(SI):c.4000-18A>G rs764830211 0.00009
NM_001042413.2(GLIS3):c.24G>T (p.Met8Ile) rs201804281 0.00009
NM_001042413.2(GLIS3):c.2531T>C (p.Ile844Thr) rs193061752 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00009
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu) rs373315916 0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) rs145013450 0.00009
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala) rs746099604 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001126108.2(SLC12A3):c.2285+7C>T rs774342870 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) rs145754170 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu) rs745997859 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001135022.2(ELMOD3):c.269-13C>T rs188058240 0.00009
NM_001148.6(ANK2):c.10975C>T (p.Arg3659Cys) rs370699621 0.00009
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn) rs752213208 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) rs201233141 0.00009
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164688.2(RD3):c.43C>T (p.Arg15Trp) rs376558739 0.00009
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) rs369410139 0.00009
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) rs748500639 0.00009
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) rs201334880 0.00009
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921 0.00009
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001174147.2(LMX1B):c.972G>C (p.Gln324His) rs886063418 0.00009
NM_001177316.2(SLC34A3):c.1606C>T (p.Arg536Trp) rs142206230 0.00009
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=) rs143867268 0.00009
NM_001190274.2(FBXO11):c.233-19T>C rs778377197 0.00009
NM_001197104.2(KMT2A):c.6158+9C>T rs200249108 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001206744.2(TPO):c.612G>A (p.Pro204=) rs3732349 0.00009
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg) rs780541458 0.00009
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile) rs371831198 0.00009
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys) rs568460311 0.00009
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser) rs368692616 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln) rs778565859 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu) rs199975096 0.00009
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=) rs773862719 0.00009
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu) rs561284948 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp) rs372443762 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp) rs750853901 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=) rs552314114 0.00009
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His) rs755972883 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His) rs200126117 0.00009
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001290043.2(TAP2):c.1087C>T (p.Arg363Trp) rs573005983 0.00009
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp) rs372407808 0.00009
NM_001349206.2(LPIN1):c.1265-8C>T rs111698882 0.00009
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp) rs777425801 0.00009
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807 0.00009
NM_001363118.2(SLC52A2):c.709G>C (p.Ala237Pro) rs373923619 0.00009
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) rs201312287 0.00009
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln) rs375269956 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met) rs140690090 0.00009
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036 0.00009
NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=) rs564176510 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys) rs770645262 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg) rs371101065 0.00009
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser) rs765233016 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 0.00009
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu) rs200904521 0.00009
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=) rs200434902 0.00009
NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser) rs768631811 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser) rs775792241 0.00009
NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys) rs747977032 0.00009
NM_001379500.1(COL18A1):c.2869-11G>A rs566226316 0.00009
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu) rs776769626 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384479.1(AGT):c.647A>C rs568010875 0.00009
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val) rs192335673 0.00009
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu) rs770395082 0.00009
NM_001385079.1(PDE10A):c.1155C>T (p.Ala385=) rs778126794 0.00009
NM_001386795.1(DTNA):c.371A>G (p.His124Arg) rs150147476 0.00009
NM_001395656.1(ROBO2):c.3765T>C (p.Ser1255=) rs201292837 0.00009
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile) rs374757755 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) rs200077114 0.00009
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu) rs201949844 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser) rs778922568 0.00009
NM_001680.5(FXYD2):c.114C>T (p.Phe38=) rs151172706 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=) rs145734697 0.00009
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr) rs781981910 0.00009
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
NM_001735.3(C5):c.3199A>C (p.Ser1067Arg) rs377417930 0.00009
NM_001735.3(C5):c.3659-6G>A rs201384752 0.00009
NM_001735.3(C5):c.4924T>G (p.Leu1642Val) rs762245967 0.00009
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) rs376772481 0.00009
NM_001845.6(COL4A1):c.280-11C>T rs377299204 0.00009
NM_001845.6(COL4A1):c.3742+14dup rs761797795 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala) rs528002132 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_001957.4(EDNRA):c.354G>A (p.Leu118=) rs201702493 0.00009
NM_001963.6(EGF):c.2378A>T (p.Glu793Val) rs369597497 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00009
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002087.4(GRN):c.53C>T (p.Thr18Met) rs199572314 0.00009
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002204.4(ITGA3):c.840G>A (p.Ala280=) rs199801873 0.00009
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002234.4(KCNA5):c.1730G>A (p.Arg577Gln) rs139805781 0.00009
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113 0.00009
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00009
NM_002335.4(LRP5):c.1412+12G>A rs189423416 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=) rs749656764 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00009
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=) rs139329956 0.00009
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro) rs147634094 0.00009
NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) rs373848556 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002890.3(RASA1):c.1209A>G (p.Pro403=) rs367991324 0.00009
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.2283G>C (p.Pro761=) rs774128799 0.00009
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) rs963277918 0.00009
NM_003114.5(SPAG1):c.496G>A (p.Val166Met) rs201503190 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp) rs763155375 0.00009
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn) rs769398465 0.00009
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr) rs572796263 0.00009
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys) rs368392588 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro) rs776725808 0.00009
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg) rs565257577 0.00009
NM_003647.3(DGKE):c.888+12T>C rs557770879 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=) rs754387668 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004006.3(DMD):c.-75G>A rs778938887 0.00009
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu) rs556000090 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_004407.4(DMP1):c.517C>T (p.Arg173Trp) rs200549155 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00009
NM_004525.3(LRP2):c.11851G>A (p.Asp3951Asn) rs761977482 0.00009
NM_004525.3(LRP2):c.12989-10C>T rs186870588 0.00009
NM_004525.3(LRP2):c.2422A>G (p.Ile808Val) rs772261621 0.00009
NM_004525.3(LRP2):c.3191-17G>A rs763192172 0.00009
NM_004525.3(LRP2):c.3668-3T>A rs754632512 0.00009
NM_004525.3(LRP2):c.4294+20G>A rs377152498 0.00009
NM_004525.3(LRP2):c.4604T>C (p.Val1535Ala) rs754354761 0.00009
NM_004525.3(LRP2):c.4755C>T (p.Asp1585=) rs141871628 0.00009
NM_004525.3(LRP2):c.5095A>G (p.Asn1699Asp) rs774435995 0.00009
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His) rs371708810 0.00009
NM_004525.3(LRP2):c.7878G>A (p.Gln2626=) rs199593393 0.00009
NM_004525.3(LRP2):c.9811G>A (p.Ala3271Thr) rs1051668841 0.00009
NM_004525.3(LRP2):c.9945C>A (p.Asn3315Lys) rs201808907 0.00009
NM_004560.4(ROR2):c.2782G>C (p.Asp928His) rs199855010 0.00009
NM_004588.5(SCN2B):c.205T>C (p.Tyr69His) rs369196654 0.00009
NM_004589.4(SCO1):c.94C>G (p.Pro32Ala) rs762163897 0.00009
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) rs886039885 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004655.4(AXIN2):c.2406-8C>G rs143905290 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly) rs113005222 0.00009
NM_005026.5(PIK3CD):c.2997+10G>A rs377699493 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) rs201174948 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln) rs200606416 0.00009
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091 0.00009
NM_005506.4(SCARB2):c.1187+18C>T rs202159028 0.00009
NM_005506.4(SCARB2):c.24G>A (p.Thr8=) rs772501510 0.00009
NM_005506.4(SCARB2):c.275+20T>C rs377180838 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg) rs776158943 0.00009
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys) rs143400546 0.00009
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_005732.4(RAD50):c.265G>A (p.Val89Ile) rs151109830 0.00009
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) rs147841245 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.1494C>T (p.Val498=) rs778206175 0.00009
NM_006005.3(WFS1):c.1770G>A (p.Thr590=) rs71532858 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.747G>A (p.Glu249=) rs752638064 0.00009
NM_006005.3(WFS1):c.862-19C>T rs370767782 0.00009
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) rs199936673 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_006129.5(BMP1):c.2455G>A (p.Gly819Ser) rs200936548 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) rs138712106 0.00009
NM_006389.5(HYOU1):c.293G>A (p.Arg98His) rs150918294 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln) rs149155352 0.00009
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr) rs369444528 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=) rs199629519 0.00009
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00009
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 0.00009
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=) rs371251483 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=) rs1312053021 0.00009
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=) rs769774517 0.00009
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) rs200333706 0.00009
NM_006915.3(RP2):c.751A>G (p.Arg251Gly) rs190443020 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007214.5(SEC63):c.807G>A (p.Thr269=) rs182467867 0.00009
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_007327.4(GRIN1):c.394-4G>A rs202180269 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser) rs138163915 0.00009
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.792C>T (p.Thr264=) rs144912461 0.00009
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu) rs761591526 0.00009
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_012301.4(MAGI2):c.1777A>G (p.Met593Val) rs745364999 0.00009
NM_012301.4(MAGI2):c.3083C>T (p.Ala1028Val) rs148526889 0.00009
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val) rs778640435 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=) rs150767214 0.00009
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.1675G>A (p.Ala559Thr) rs199553226 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099 0.00009
NM_014491.4(FOXP2):c.598-1G>C rs752704782 0.00009
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln) rs374972168 0.00009
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del) rs749738679 0.00009
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu) rs531161184 0.00009
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val) rs143919649 0.00009
NM_015102.5(NPHP4):c.1230G>T (p.Gln410His) rs368074369 0.00009
NM_015102.5(NPHP4):c.176G>A (p.Arg59Gln) rs200128117 0.00009
NM_015102.5(NPHP4):c.2951C>T (p.Thr984Met) rs377729557 0.00009
NM_015102.5(NPHP4):c.3046G>A (p.Val1016Ile) rs200702924 0.00009
NM_015102.5(NPHP4):c.3770C>T (p.Thr1257Ile) rs746967083 0.00009
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) rs370791961 0.00009
NM_015158.5(KANK1):c.2646T>G (p.Thr882=) rs116342444 0.00009
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val) rs140876280 0.00009
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn) rs769686672 0.00009
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) rs149781516 0.00009
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln) rs560144848 0.00009
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452 0.00009
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00009
NM_015346.4(ZFYVE26):c.5834G>A (p.Arg1945Gln) rs200595749 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015627.3(LDLRAP1):c.205G>A (p.Ala69Thr) rs141635927 0.00009
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr) rs746868013 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016335.6(PRODH):c.174G>T (p.Ala58=) rs931875471 0.00009
NM_016341.4(PLCE1):c.3303C>T (p.Asp1101=) rs773286585 0.00009
NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=) rs200943442 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu) rs369462197 0.00009
NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser) rs201067221 0.00009
NM_017662.5(TRPM6):c.2066G>T (p.Arg689Leu) rs375390431 0.00009
NM_017662.5(TRPM6):c.2920-3C>T rs775883873 0.00009
NM_017662.5(TRPM6):c.5339G>A (p.Arg1780His) rs147011944 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_017827.4(SARS2):c.1348-19G>A rs540813245 0.00009
NM_017909.4(RMND1):c.614-18G>A rs764159292 0.00009
NM_017947.4(MOCOS):c.1351G>A (p.Gly451Arg) rs201070779 0.00009
NM_017947.4(MOCOS):c.1422G>A (p.Thr474=) rs34489411 0.00009
NM_017947.4(MOCOS):c.1849A>G (p.Met617Val) rs746750840 0.00009
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467 0.00009
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile) rs560622337 0.00009
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018417.6(ADCY10):c.758G>A (p.Cys253Tyr) rs145461869 0.00009
NM_018474.6(KIZ):c.284C>T (p.Thr95Ile) rs367970443 0.00009
NM_018979.4(WNK1):c.5418A>G (p.Pro1806=) rs56245971 0.00009
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val) rs149885788 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_020632.3(ATP6V0A4):c.1189A>G (p.Thr397Ala) rs140896827 0.00009
NM_020632.3(ATP6V0A4):c.2129A>G (p.His710Arg) rs371213982 0.00009
NM_020632.3(ATP6V0A4):c.834G>C (p.Glu278Asp) rs767146505 0.00009
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter) rs201146927 0.00009
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) rs142380037 0.00009
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) rs561723791 0.00009
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) rs151273573 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) rs150256536 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His) rs374363044 0.00009
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn) rs932161061 0.00009
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=) rs539497900 0.00009
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser) rs373669637 0.00009
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=) rs59906488 0.00009
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=) rs375091126 0.00009
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=) rs958144782 0.00009
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu) rs775405041 0.00009
NM_021098.3(CACNA1H):c.3744+9G>A rs377367672 0.00009
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696 0.00009
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=) rs72552043 0.00009
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=) rs372465474 0.00009
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=) rs377611664 0.00009
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu) rs535814707 0.00009
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=) rs368713417 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=) rs559991759 0.00009
NM_022042.4(SLC26A1):c.1404G>A (p.Pro468=) rs370491888 0.00009
NM_022042.4(SLC26A1):c.1848C>T (p.Cys616=) rs377435206 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser) rs371011963 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) rs180843163 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu) rs377433853 0.00009
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) rs148585227 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_022489.4(INF2):c.2622G>A (p.Ser874=) rs374311535 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) rs750623273 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024422.6(DSC2):c.-25C>G rs904308285 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024580.6(EFL1):c.1398A>G (p.Gln466=) rs374308281 0.00009
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser) rs767717128 0.00009
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_025074.7(FRAS1):c.10540+15G>A rs766110910 0.00009
NM_025074.7(FRAS1):c.1716C>T (p.Ser572=) rs756854613 0.00009
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) rs376814395 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr) rs369104382 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val) rs760625332 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_025114.4(CEP290):c.5012+10C>T rs191369238 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=) rs556270179 0.00009
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030962.4(SBF2):c.5037+12A>G rs372500490 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_031885.5(BBS2):c.612+18G>A rs200364314 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu) rs373862154 0.00009
NM_032119.4(ADGRV1):c.18629C>T (p.Pro6210Leu) rs749622020 0.00009
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) rs145650643 0.00009
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln) rs377135500 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331 0.00009
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu) rs72778139 0.00009
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys) rs144696430 0.00009
NM_033100.4(CDHR1):c.720G>C (p.Gln240His) rs149002238 0.00009
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=) rs370194660 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325 0.00009
NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser) rs577501563 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) rs756749018 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_133379.5(TTN):c.11699T>C (p.Ile3900Thr) rs144799515 0.00009
NM_138425.4(C12orf57):c.37G>A (p.Ala13Thr) rs201246220 0.00009
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val) rs139742511 0.00009
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu) rs780849635 0.00009
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=) rs750130747 0.00009
NM_138694.4(PKHD1):c.1565C>T (p.Ser522Phe) rs746561147 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_138694.4(PKHD1):c.5324G>A (p.Arg1775Gln) rs370557603 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln) rs139951127 0.00009
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) rs370060687 0.00009
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg) rs397517858 0.00009
NM_144585.4(SLC22A12):c.269G>A (p.Arg90His) rs121907896 0.00009
NM_144585.4(SLC22A12):c.615G>A (p.Leu205=) rs71581772 0.00009
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys) rs114401181 0.00009
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_144997.7(FLCN):c.1432+8C>T rs201898226 0.00009
NM_144997.7(FLCN):c.779+9C>T rs373504780 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) rs376275481 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00009
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys) rs144236612 0.00009
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) rs773571503 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr) rs150790888 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_173551.5(ANKS6):c.354G>A (p.Ala118=) rs980440912 0.00009
NM_174936.4(PCSK9):c.276G>A (p.Glu92=) rs147865087 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu) rs747055521 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_178170.3(NEK8):c.889+17C>T rs577084302 0.00009
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala) rs201963508 0.00009
NM_181486.4(TBX5):c.*1511G>A rs886048983 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_198252.3(GSN):c.276C>T (p.Ala92=) rs548138013 0.00009
NM_198252.3(GSN):c.303C>T (p.Phe101=) rs373779982 0.00009
NM_198252.3(GSN):c.741C>T (p.Ala247=) rs751823302 0.00009
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) rs151155909 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133 0.00009
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp) rs782410213 0.00009
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys) rs142530341 0.00009
NM_201596.3(CACNB2):c.334-7A>T rs779728445 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) rs372958987 0.00009
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_212482.4(FN1):c.3492G>A (p.Ala1164=) rs548899134 0.00009
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys) rs765428225 0.00009
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln) rs202046520 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213655.5(WNK1):c.2146C>T (p.Arg716Cys) rs140331977 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys) rs765811825 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val) rs371971275 0.00008
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) rs202064075 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr) rs751663801 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr) rs201544164 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu) rs201156527 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000214.3(JAG1):c.1720+17G>A rs371096301 0.00008
NM_000215.4(JAK3):c.362G>A (p.Arg121His) rs143586866 0.00008
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser) rs199472882 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000243.3(MEFV):c.765A>G (p.Ala255=) rs771714168 0.00008
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) rs376169396 0.00008
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) rs782276809 0.00008
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) rs758332732 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=) rs372311564 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu) rs770815981 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00008
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000303.3(PMM2):c.513G>A (p.Thr171=) rs371399381 0.00008
NM_000310.4(PPT1):c.802C>T (p.Arg268Cys) rs200813294 0.00008
NM_000316.3(PTH1R):c.1212-18C>T rs200401411 0.00008
NM_000316.3(PTH1R):c.1696G>A (p.Gly566Ser) rs147371743 0.00008
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000337.6(SGCD):c.*1047C>T rs999149586 0.00008
NM_000337.6(SGCD):c.*7298A>C rs886060321 0.00008
NM_000337.6(SGCD):c.*7507A>G rs75641902 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000341.4(SLC3A1):c.1011+12T>C rs370288046 0.00008
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000380.4(XPA):c.599T>C (p.Leu200Ser) rs755803064 0.00008
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166 0.00008
NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) rs369601773 0.00008
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His) rs771803651 0.00008
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp) rs148923077 0.00008
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188 0.00008
NM_000548.5(TSC2):c.3815-16C>T rs546810161 0.00008
NM_000548.5(TSC2):c.775-4G>A rs754957491 0.00008
NM_000553.6(WRN):c.1840A>G (p.Ile614Val) rs577000913 0.00008
NM_000553.6(WRN):c.3819+5G>C rs770289356 0.00008
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_000748.3(CHRNB2):c.1488C>T (p.His496=) rs200582284 0.00008
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile) rs770028088 0.00008
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000789.4(ACE):c.2317G>A (p.Val773Met) rs143830698 0.00008
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_001018115.3(FANCD2):c.4281+37G>A rs376442380 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350 0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001042413.2(GLIS3):c.1984-16C>T rs145670205 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001046.3(SLC12A2):c.877-16C>G rs530956302 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met) rs200882008 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) rs367680713 0.00008
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala) rs750856311 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr) rs139730568 0.00008
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn) rs782226255 0.00008
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) rs782162498 0.00008
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys) rs782041997 0.00008
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg) rs782367093 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) rs201341355 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=) rs200521119 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001134363.3(RBM20):c.*941C>T rs548271514 0.00008
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) rs541330074 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr) rs778823043 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
NM_001204.7(BMPR2):c.*3354G>T rs886055481 0.00008
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met) rs199779645 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val) rs567457007 0.00008
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val) rs750612476 0.00008
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro) rs369663023 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr) rs554718474 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser) rs758537709 0.00008
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile) rs528354205 0.00008
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn) rs754921505 0.00008
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=) rs374551688 0.00008
NM_001277115.2(DNAH11):c.5144G>A (p.Arg1715His) rs763926220 0.00008
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_001278293.3(ARL6):c.350-7C>T rs375454860 0.00008
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) rs770480368 0.00008
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) rs374970694 0.00008
NM_001289104.2(PRKCSH):c.762+2T>C rs112915100 0.00008
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) rs200480915 0.00008
NM_001303.4(COX10):c.625T>C (p.Phe209Leu) rs767032314 0.00008
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=) rs375130004 0.00008
NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) rs771205777 0.00008
NM_001354768.3(NRL):c.407C>T (p.Ala136Val) rs375075312 0.00008
NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr) rs537163552 0.00008
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001370595.2(COA8):c.197G>A (p.Arg66Gln) rs751876490 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=) rs201494266 0.00008
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) rs781691287 0.00008
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151 0.00008
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys) rs376987361 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly) rs201002262 0.00008
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=) rs773767211 0.00008
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=) rs782329243 0.00008
NM_001692.4(ATP6V1B1):c.511A>G (p.Ile171Val) rs782446537 0.00008
NM_001735.3(C5):c.2653C>T (p.Arg885Cys) rs373359894 0.00008
NM_001735.3(C5):c.5005G>A (p.Glu1669Lys) rs758052311 0.00008
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=) rs377765047 0.00008
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001963.6(EGF):c.192C>A (p.Thr64=) rs367667834 0.00008
NM_001963.6(EGF):c.720T>C (p.Ile240=) rs200702456 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_002067.5(GNA11):c.889+14C>T rs369371015 0.00008
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_002150.3(HPD):c.356G>A (p.Arg119Gln) rs149180825 0.00008
NM_002163.4(IRF8):c.671C>T (p.Pro224Leu) rs774835569 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002234.4(KCNA5):c.41T>G (p.Met14Arg) rs995191067 0.00008
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_002246.3(KCNK3):c.486C>T (p.Ile162=) rs540879740 0.00008
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00008
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_002435.3(MPI):c.-5C>T rs145533697 0.00008
NM_002471.4(MYH6):c.1141+11C>T rs373521230 0.00008
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln) rs766238876 0.00008
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) rs553877450 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00008
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile) rs186829827 0.00008
NM_002661.5(PLCG2):c.2581+10C>G rs367866295 0.00008
NM_002691.4(POLD1):c.1574G>A (p.Arg525Gln) rs372190244 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr) rs370712299 0.00008
NM_003001.5(SDHC):c.405+13G>A rs369274171 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg) rs28383482 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_003356.4(UCP3):c.490G>A (p.Asp164Asn) rs367566750 0.00008
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) rs145588324 0.00008
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_003661.4(APOL1):c.967G>C (p.Glu323Gln) rs200395416 0.00008
NM_003722.5(TP63):c.882+19A>T rs200703504 0.00008
NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys) rs748819463 0.00008
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile) rs368317123 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004304.5(ALK):c.1999G>A (p.Gly667Arg) rs539763601 0.00008
NM_004304.5(ALK):c.2632+17G>A rs201350160 0.00008
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_004525.3(LRP2):c.10413C>T (p.Thr3471=) rs781066641 0.00008
NM_004525.3(LRP2):c.13190C>T (p.Pro4397Leu) rs759734710 0.00008
NM_004525.3(LRP2):c.13519-18T>C rs1031924195 0.00008
NM_004525.3(LRP2):c.3333C>T (p.Asp1111=) rs372322747 0.00008
NM_004525.3(LRP2):c.4496A>G (p.Asp1499Gly) rs748769984 0.00008
NM_004525.3(LRP2):c.909C>T (p.Thr303=) rs375394006 0.00008
NM_004560.4(ROR2):c.1490C>T (p.Pro497Leu) rs772631240 0.00008
NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr) rs200264107 0.00008
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg) rs148529934 0.00008
NM_004646.4(NPHS1):c.1113G>C (p.Leu371=) rs547598963 0.00008
NM_004933.3(CDH15):c.178C>T (p.Arg60Cys) rs121434539 0.00008
NM_004944.4(DNASE1L3):c.433+15G>A rs376623875 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser) rs924203370 0.00008
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005546.4(ITK):c.844G>A (p.Val282Ile) rs202191474 0.00008
NM_005557.4(KRT16):c.933+18del rs758953756 0.00008
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00008
NM_005633.4(SOS1):c.*1477G>A rs1029291502 0.00008
NM_005633.4(SOS1):c.*421A>G rs973373222 0.00008
NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp) rs373313419 0.00008
NM_005787.5(ALG3):c.-26G>C rs747569137 0.00008
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_006005.3(WFS1):c.1148G>A (p.Arg383His) rs369450642 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_006005.3(WFS1):c.2391C>T (p.Asp797=) rs548415089 0.00008
NM_006005.3(WFS1):c.393C>T (p.Val131=) rs758199900 0.00008
NM_006059.4(LAMC3):c.4093G>A (p.Val1365Ile) rs148481163 0.00008
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu) rs200997384 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) rs368090654 0.00008
NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) rs567541925 0.00008
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile) rs745634199 0.00008
NM_006662.3(SRCAP):c.3542-5T>C rs141077295 0.00008
NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr) rs978664247 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr) rs141806013 0.00008
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp) rs773196234 0.00008
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) rs61729605 0.00008
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178 0.00008
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_014009.4(FOXP3):c.647+19T>G rs371187277 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_014140.4(SMARCAL1):c.1468C>T (p.Arg490Cys) rs371394232 0.00008
NM_014270.5(SLC7A9):c.977+17G>A rs376464833 0.00008
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln) rs184333345 0.00008
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=) rs371631049 0.00008
NM_015102.5(NPHP4):c.2093C>T (p.Ala698Val) rs745698836 0.00008
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile) rs892392514 0.00008
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841 0.00008
NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) rs372166382 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter) rs201061482 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) rs368883957 0.00008
NM_016616.5(NME8):c.1657C>T (p.Arg553Ter) rs145721687 0.00008
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr) rs370801470 0.00008
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp) rs782702109 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017636.4(TRPM4):c.2638G>A (p.Gly880Ser) rs762428211 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_017780.4(CHD7):c.2613+5G>A rs202143667 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) rs369512832 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_018139.3(DNAAF2):c.416A>G (p.Tyr139Cys) rs761527467 0.00008
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786 0.00008
NM_018486.3(HDAC8):c.384C>T (p.Asp128=) rs1250641302 0.00008
NM_018699.4(PRDM5):c.300+17C>T rs376707809 0.00008
NM_018941.4(CLN8):c.300G>A (p.Gln100=) rs148988002 0.00008
NM_018979.4(WNK1):c.3019A>G (p.Met1007Val) rs191295023 0.00008
NM_018979.4(WNK1):c.5001C>T (p.Ser1667=) rs187067527 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_020208.4(SLC6A20):c.354+2T>A rs531515127 0.00008
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser) rs368516996 0.00008
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) rs149863527 0.00008
NM_020632.3(ATP6V0A4):c.2296G>A (p.Gly766Ser) rs190792699 0.00008
NM_020760.4(HECW2):c.3238+9T>C rs201438025 0.00008
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) rs574509639 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_020975.6(RET):c.1596C>T (p.Gly532=) rs144460361 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.3156C>T (p.Leu1052=) rs191769748 0.00008
NM_021083.4(XK):c.554T>C (p.Leu185Ser) rs782066998 0.00008
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His) rs200791167 0.00008
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser) rs556556052 0.00008
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser) rs780831084 0.00008
NM_021098.3(CACNA1H):c.5040-3C>T rs769178587 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=) rs144424401 0.00008
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=) rs367929249 0.00008
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=) rs755043976 0.00008
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) rs372726042 0.00008
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter) rs143740376 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_021939.4(FKBP10):c.1003A>G (p.Met335Val) rs369599375 0.00008
NM_022042.4(SLC26A1):c.1189G>A (p.Ala397Thr) rs572968482 0.00008
NM_022042.4(SLC26A1):c.2063G>A (p.Arg688Gln) rs148726880 0.00008
NM_022042.4(SLC26A1):c.763G>A (p.Gly255Ser) rs773823235 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) rs200241618 0.00008
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024642.5(GALNT12):c.715G>C (p.Glu239Gln) rs777144221 0.00008
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) rs587780223 0.00008
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln) rs201335653 0.00008
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg) rs757356455 0.00008
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) rs772648931 0.00008
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr) rs769705837 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.1528-15G>T rs368282063 0.00008
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) rs757135353 0.00008
NM_032229.3(SLITRK6):c.2261C>T (p.Ser754Leu) rs369642690 0.00008
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) rs61735932 0.00008
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) rs200949139 0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His) rs574214196 0.00008
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met) rs543847606 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys) rs548542949 0.00008
NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu) rs368137679 0.00008
NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr) rs147220200 0.00008
NM_052813.5(CARD9):c.1244G>A (p.Arg415Gln) rs147340708 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_053025.4(MYLK):c.2462+5G>A rs374003770 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_133261.3(GIPC3):c.57G>T (p.Ala19=) rs754337950 0.00008
NM_138694.4(PKHD1):c.11476C>A (p.His3826Asn) rs760056303 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) rs200273776 0.00008
NM_144596.4(TTC8):c.1347+18G>A rs368504643 0.00008
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364 0.00008
NM_144997.7(FLCN):c.792G>A (p.Ala264=) rs140500421 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_152384.3(BBS5):c.523-18C>T rs201051397 0.00008
NM_152384.3(BBS5):c.60-3T>C rs201553380 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met) rs368808380 0.00008
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg) rs201176686 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_170784.3(MKKS):c.1246C>A (p.His416Asn) rs148800011 0.00008
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe) rs374485160 0.00008
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00008
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=) rs146980948 0.00008
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) rs201104087 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 0.00008
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu) rs201263027 0.00008
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=) rs780286885 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_182643.3(DLC1):c.3609C>A (p.Thr1203=) rs145989730 0.00008
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg) rs370145481 0.00008
NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val) rs150757806 0.00008
NM_198334.3(GANAB):c.548C>T (p.Ala183Val) rs921091711 0.00008
NM_198334.3(GANAB):c.926G>A (p.Arg309His) rs144118755 0.00008
NM_198428.3(BBS9):c.2313G>A (p.Thr771=) rs374269883 0.00008
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) rs200795874 0.00008
NM_198578.4(LRRK2):c.309G>C (p.Gln103His) rs200926937 0.00008
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) rs56108242 0.00008
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) rs148774506 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 0.00007
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525 0.00007
NM_000054.7(AVPR2):c.1010G>A (p.Arg337Gln) rs782160409 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) rs550043629 0.00007
NM_000067.3(CA2):c.607C>A (p.Leu203Met) rs548376992 0.00007
NM_000067.3(CA2):c.618G>A (p.Val206=) rs369700367 0.00007
NM_000067.3(CA2):c.709G>A (p.Glu237Lys) rs143666045 0.00007
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile) rs140660066 0.00007
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln) rs921905047 0.00007
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) rs369567469 0.00007
NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His) rs893516153 0.00007
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=) rs750401163 0.00007
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=) rs370383308 0.00007
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943 0.00007
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu) rs147947287 0.00007
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys) rs141720633 0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000135.4(FANCA):c.1225+14C>T rs376558078 0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000138.5(FBN1):c.*254C>T rs886051243 0.00007
NM_000138.5(FBN1):c.4582+3A>G rs777845323 0.00007
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile) rs142912485 0.00007
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000168.6(GLI3):c.1740C>T (p.His580=) rs146154710 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000168.6(GLI3):c.528C>T (p.Ile176=) rs539622820 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000187.4(HGD):c.125A>C (p.Glu42Ala) rs373921680 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) rs745935518 0.00007
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met) rs1085307580 0.00007
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln) rs727504378 0.00007
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu) rs751224775 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) rs368658600 0.00007
NM_000274.4(OAT):c.1110C>T (p.Ala370=) rs148325838 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr) rs749684940 0.00007
NM_000281.4(PCBD1):c.27C>T (p.Ser9=) rs547375927 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) rs200945035 0.00007
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000312.4(PROC):c.322C>A (p.His108Asn) rs200234655 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186 0.00007
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) rs140609339 0.00007
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885 0.00007
NM_000340.2(SLC2A2):c.372-16C>T rs372176041 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000359.3(TGM1):c.604G>A (p.Gly202Arg) rs141685762 0.00007
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu) rs200524554 0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253 0.00007
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980 0.00007
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) rs578253592 0.00007
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.711C>T (p.Ser237=) rs369745832 0.00007
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00007
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) rs577226533 0.00007
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_000478.6(ALPL):c.-176C>T rs990367929 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) rs200831024 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) rs760153692 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=) rs767496164 0.00007
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu) rs201054455 0.00007
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val) rs149096607 0.00007
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=) rs772616442 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu) rs759530203 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_000543.5(SMPD1):c.174G>A (p.Pro58=) rs368143181 0.00007
NM_000548.5(TSC2):c.1131C>T (p.Ser377=) rs201525586 0.00007
NM_000548.5(TSC2):c.2220+12G>A rs780039835 0.00007
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956 0.00007
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=) rs140081676 0.00007
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=) rs556045045 0.00007
NM_000548.5(TSC2):c.5259+9T>C rs1057522018 0.00007
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743 0.00007
NM_000642.3(AGL):c.846+8T>A rs372517543 0.00007
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly) rs139537461 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 0.00007
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) rs757299093 0.00007
NM_000789.4(ACE):c.1915G>A (p.Gly639Ser) rs72845024 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) rs200900879 0.00007
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp) rs749360324 0.00007
NM_001008388.5(CISD2):c.319-20T>C rs933913005 0.00007
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001041.4(SI):c.5049A>G (p.Leu1683=) rs199658617 0.00007
NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=) rs745836279 0.00007
NM_001042413.2(GLIS3):c.1988G>A (p.Arg663Gln) rs144720690 0.00007
NM_001042413.2(GLIS3):c.2027G>T (p.Cys676Phe) rs149983395 0.00007
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln) rs755462817 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg) rs200742037 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001098.3(ACO2):c.941-19C>T rs375652573 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001103.4(ACTN2):c.*1001T>A rs902731297 0.00007
NM_001103.4(ACTN2):c.*1645C>G rs577833572 0.00007
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr) rs374001056 0.00007
NM_001105206.3(LAMA4):c.196-11G>A rs374364713 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001127222.2(CACNA1A):c.6527-16C>T rs752985059 0.00007
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln) rs766555766 0.00007
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975 0.00007
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053 0.00007
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His) rs777489323 0.00007
NM_001134363.3(RBM20):c.*1452T>C rs906770120 0.00007
NM_001134793.2(HYLS1):c.55C>T (p.Arg19Ter) rs143088549 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=) rs200616436 0.00007
NM_001136193.2(FASTKD2):c.298G>T (p.Ala100Ser) rs773754189 0.00007
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg) rs751746614 0.00007
NM_001144967.3(NEDD4L):c.990+8G>C rs760145364 0.00007
NM_001145252.3(CFP):c.470G>A (p.Arg157Gln) rs140986480 0.00007
NM_001148.6(ANK2):c.10453G>A (p.Ala3485Thr) rs754354916 0.00007
NM_001148.6(ANK2):c.11032+11G>T rs374973572 0.00007
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile) rs149292242 0.00007
NM_001148.6(ANK2):c.8669G>A (p.Cys2890Tyr) rs372710129 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) rs375517057 0.00007
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) rs372059636 0.00007
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001174147.2(LMX1B):c.130G>A (p.Val44Met) rs1017526258 0.00007
NM_001177316.2(SLC34A3):c.1415C>T (p.Pro472Leu) rs750347570 0.00007
NM_001177316.2(SLC34A3):c.1639C>T (p.Arg547Cys) rs753910973 0.00007
NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser) rs535927522 0.00007
NM_001195305.3(BBIP1):c.46A>T (p.Thr16Ser) rs946591185 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001243133.2(NLRP3):c.277+11G>A rs577522959 0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr) rs369842871 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly) rs745641339 0.00007
NM_001267550.2(TTN):c.32569A>G (p.Lys10857Glu) rs372878566 0.00007
NM_001267550.2(TTN):c.40141+6C>T rs750448649 0.00007
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile) rs780572853 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met) rs181603431 0.00007
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=) rs369146775 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.754-12del rs767647109 0.00007
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00007
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu) rs370857637 0.00007
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) rs777837737 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) rs119480072 0.00007
NM_001349206.2(LPIN1):c.1807-2A>G rs533651991 0.00007
NM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg) rs768074360 0.00007
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_001364905.1(LRBA):c.4513A>G (p.Arg1505Gly) rs140925698 0.00007
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) rs750269576 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001369369.1(FOXN1):c.475G>A (p.Glu159Lys) rs147463732 0.00007
NM_001371986.1(UNC80):c.3877G>C (p.Glu1293Gln) rs187089611 0.00007
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=) rs145984939 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00007
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg) rs1251705223 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631 0.00007
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn) rs367848962 0.00007
NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter) rs376959147 0.00007
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) rs752648207 0.00007
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile) rs761746624 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) rs372396805 0.00007
NM_001424.6(EMP2):c.497G>A (p.Arg166His) rs138530114 0.00007
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn) rs150016330 0.00007
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=) rs151191933 0.00007
NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn) rs531614845 0.00007
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_001735.3(C5):c.3731C>T (p.Thr1244Met) rs754562499 0.00007
NM_001735.3(C5):c.928C>T (p.Leu310=) rs375870111 0.00007
NM_001845.6(COL4A1):c.4449T>C (p.His1483=) rs777962282 0.00007
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=) rs200290773 0.00007
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001851.6(COL9A1):c.88+19A>C rs188749185 0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_002204.4(ITGA3):c.2964C>T (p.Ala988=) rs140166180 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002234.4(KCNA5):c.1573C>T (p.Arg525Trp) rs376656991 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val) rs148956392 0.00007
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) rs766772811 0.00007
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp) rs200316162 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr) rs775159238 0.00007
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.1585-10C>T rs200827533 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) rs770762272 0.00007
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) rs202132499 0.00007
NM_002471.4(MYH6):c.642+4C>T rs369858520 0.00007
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) rs760980150 0.00007
NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys) rs140550319 0.00007
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr) rs767837260 0.00007
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_002661.5(PLCG2):c.2055-10C>A rs747616797 0.00007
NM_002661.5(PLCG2):c.2236-15_2236-14insG rs768770205 0.00007
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=) rs773778524 0.00007
NM_002691.4(POLD1):c.713C>T (p.Thr238Met) rs553342844 0.00007
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00007
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00007
NM_003244.4(TGIF1):c.289A>G (p.Met97Val) rs369440102 0.00007
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) rs771318456 0.00007
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln) rs370575901 0.00007
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) rs771838754 0.00007
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) rs749668335 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu) rs181517869 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004104.5(FASN):c.1468C>T (p.Arg490Cys) rs533081221 0.00007
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) rs374713815 0.00007
NM_004525.3(LRP2):c.3190A>G (p.Asn1064Asp) rs916737558 0.00007
NM_004525.3(LRP2):c.6233T>G (p.Leu2078Trp) rs760347752 0.00007
NM_004525.3(LRP2):c.6770T>C (p.Ile2257Thr) rs202118469 0.00007
NM_004560.4(ROR2):c.1240A>G (p.Ile414Val) rs145023692 0.00007
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) rs369150056 0.00007
NM_004560.4(ROR2):c.485A>G (p.His162Arg) rs569718323 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg) rs765798757 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys) rs201153812 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) rs141260153 0.00007
NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp) rs376563004 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_004817.4(TJP2):c.3407+3A>G rs727505291 0.00007
NM_004944.4(DNASE1L3):c.231-9G>C rs188393900 0.00007
NM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys) rs201136542 0.00007
NM_004984.4(KIF5A):c.820-9C>A rs185306438 0.00007
NM_004994.3(MMP9):c.2089G>A (p.Val697Met) rs111366278 0.00007
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=) rs370612369 0.00007
NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr) rs769616417 0.00007
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=) rs375138488 0.00007
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg) rs532186403 0.00007
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) rs542532555 0.00007
NM_005506.4(SCARB2):c.117+19T>C rs774812479 0.00007
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005732.4(RAD50):c.3836G>A (p.Arg1279His) rs375710541 0.00007
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys) rs140053176 0.00007
NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser) rs201184315 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322 0.00007
NM_006059.4(LAMC3):c.1103A>G (p.Gln368Arg) rs200609384 0.00007
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) rs587777323 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006514.4(SCN10A):c.4657+5G>A rs373642730 0.00007
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg) rs777980971 0.00007
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 0.00007
NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr) rs374725943 0.00007
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=) rs377094082 0.00007
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) rs74015039 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.1858-11C>A rs369454227 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007294.4(BRCA1):c.5332+13G>T rs372391060 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00007
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014491.4(FOXP2):c.1494T>C (p.Tyr498=) rs191237950 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) rs745609223 0.00007
NM_014956.5(CEP164):c.2914-20A>G rs201736952 0.00007
NM_014956.5(CEP164):c.3217-8G>A rs374823549 0.00007
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His) rs140470210 0.00007
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp) rs369446103 0.00007
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr) rs143693029 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_015102.5(NPHP4):c.280-6C>G rs532995236 0.00007
NM_015102.5(NPHP4):c.2931G>A (p.Thr977=) rs756370084 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_015102.5(NPHP4):c.675C>T (p.Gly225=) rs200203766 0.00007
NM_015158.5(KANK1):c.1412G>A (p.Arg471His) rs144629161 0.00007
NM_015158.5(KANK1):c.1909G>A (p.Val637Met) rs147261175 0.00007
NM_015158.5(KANK1):c.2202G>T (p.Arg734=) rs201557720 0.00007
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp) rs199630965 0.00007
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) rs140089320 0.00007
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr) rs202216329 0.00007
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 0.00007
NM_015910.7(WDPCP):c.842G>A (p.Arg281His) rs3738877 0.00007
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln) rs145456430 0.00007
NM_017565.4(FAM20A):c.321G>C (p.Pro107=) rs568029338 0.00007
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln) rs554854985 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017636.4(TRPM4):c.1050G>A (p.Gln350=) rs542569450 0.00007
NM_017636.4(TRPM4):c.2116C>T (p.Arg706Cys) rs199552085 0.00007
NM_017636.4(TRPM4):c.2840C>A (p.Ala947Asp) rs368175948 0.00007
NM_017636.4(TRPM4):c.416G>A (p.Arg139His) rs200360191 0.00007
NM_017662.5(TRPM6):c.3501T>C (p.Cys1167=) rs966765338 0.00007
NM_017662.5(TRPM6):c.705C>T (p.Leu235=) rs373729845 0.00007
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600 0.00007
NM_017827.4(SARS2):c.758G>A (p.Arg253Gln) rs185053576 0.00007
NM_017831.4(RNF125):c.92C>T (p.Pro31Leu) rs751589349 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_018979.4(WNK1):c.3806G>A (p.Arg1269Gln) rs574104473 0.00007
NM_018979.4(WNK1):c.6603T>C (p.Asp2201=) rs770912702 0.00007
NM_018979.4(WNK1):c.7147T>A (p.Ter2383Lys) rs55650617 0.00007
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=) rs540923982 0.00007
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_020347.4(LZTFL1):c.881+18C>T rs535240697 0.00007
NM_020347.4(LZTFL1):c.881+19G>A rs773028690 0.00007
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_020831.6(MRTFA):c.1304C>T (p.Ser435Leu) rs767517879 0.00007
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) rs768676143 0.00007
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) rs748083548 0.00007
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) rs148605513 0.00007
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) rs202101508 0.00007
NM_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 0.00007
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1371A>T (p.Ser457=) rs376464605 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.81G>A (p.Leu27=) rs369519655 0.00007
NM_020975.6(RET):c.82G>A (p.Gly28Ser) rs779905135 0.00007
NM_020987.5(ANK3):c.10397T>A (p.Val3466Asp) rs201398340 0.00007
NM_020987.5(ANK3):c.12143C>T (p.Ser4048Leu) rs374134328 0.00007
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=) rs147877708 0.00007
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala) rs201449513 0.00007
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=) rs1043511168 0.00007
NM_021098.3(CACNA1H):c.2907+8C>G rs374392186 0.00007
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) rs374946880 0.00007
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=) rs200522574 0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) rs576035669 0.00007
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=) rs372640825 0.00007
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583 0.00007
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys) rs369185359 0.00007
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val) rs763675499 0.00007
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=) rs774253114 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala) rs778560008 0.00007
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly) rs141965945 0.00007
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_022042.4(SLC26A1):c.1316G>A (p.Arg439Gln) rs148721282 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His) rs766361465 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=) rs200080728 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe) rs201860097 0.00007
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_022725.4(FANCF):c.617C>T (p.Ala206Val) rs756213451 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024120.5(NDUFAF5):c.479+5G>A rs367847398 0.00007
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024514.5(CYP2R1):c.352A>G (p.Met118Val) rs375085420 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_024537.4(CARS2):c.1503G>A (p.Ala501=) rs753425826 0.00007
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys) rs750736066 0.00007
NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) rs376133490 0.00007
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val) rs202221840 0.00007
NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His) rs377717035 0.00007
NM_025074.7(FRAS1):c.8064C>T (p.Ser2688=) rs371145937 0.00007
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr) rs375885501 0.00007
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr) rs375609644 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val) rs1289111857 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) rs56217826 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln) rs201009985 0.00007
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg) rs112133511 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys) rs765485426 0.00007
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=) rs569225834 0.00007
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr) rs147872182 0.00007
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly) rs773991025 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_032581.4(HYCC1):c.302T>C (p.Ile101Thr) rs780427026 0.00007
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
NM_032901.4(COX14):c.74A>G (p.Tyr25Cys) rs143095605 0.00007
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=) rs772348542 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=) rs751244001 0.00007
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile) rs565045703 0.00007
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=) rs369801937 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser) rs886063632 0.00007
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) rs141811441 0.00007
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 0.00007
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys) rs373778361 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_144585.4(SLC22A12):c.1427C>A (p.Ala476Asp) rs148862453 0.00007
NM_144596.4(TTC8):c.308G>T (p.Gly103Val) rs140710339 0.00007
NM_144687.4(NLRP12):c.1886C>A (p.Ala629Asp) rs146250162 0.00007
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_144997.7(FLCN):c.867C>T (p.Leu289=) rs367562964 0.00007
NM_145207.3(AFG2A):c.1978C>T (p.Pro660Ser) rs750430267 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile) rs138238924 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_153766.3(KCNJ1):c.506G>A (p.Arg169His) rs759992526 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_173076.3(ABCA12):c.5393C>T (p.Pro1798Leu) rs181314573 0.00007
NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) rs961602813 0.00007
NM_174936.4(PCSK9):c.1173C>T (p.His391=) rs149097297 0.00007
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val) rs370751343 0.00007
NM_175875.5(SIX5):c.603C>T (p.Gly201=) rs202164217 0.00007
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) rs1443229654 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) rs761950657 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_182476.3(COQ6):c.1118C>T (p.Pro373Leu) rs199869505 0.00007
NM_198252.3(GSN):c.-9-1951G>T rs772288409 0.00007
NM_198252.3(GSN):c.1485C>T (p.Ile495=) rs374982895 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198428.3(BBS9):c.2033G>A (p.Arg678His) rs200654248 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs) rs746835381 0.00007
NM_201596.3(CACNB2):c.804+665G>A rs373932682 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_212482.4(FN1):c.1413A>C (p.Thr471=) rs1009644782 0.00007
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) rs199764052 0.00007
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile) rs201181695 0.00007
NM_213655.5(WNK1):c.2351G>A (p.Arg784His) rs769105175 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys) rs376357524 0.00006
NM_000029.4(AGT):c.1395T>C (p.Tyr465=) rs371051808 0.00006
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000053.4(ATP7B):c.1285+8G>A rs377584333 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) rs769294331 0.00006
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=) rs141373588 0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=) rs751808949 0.00006
NM_000067.3(CA2):c.444+18T>G rs544980486 0.00006
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp) rs748363488 0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp) rs780508029 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met) rs372679328 0.00006
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val) rs912512352 0.00006
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) rs553594726 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg) rs200278401 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile) rs140257722 0.00006
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala) rs201980471 0.00006
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) rs139610730 0.00006
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln) rs371326070 0.00006
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=) rs376448360 0.00006
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) rs754398956 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.543C>T (p.Ala181=) rs777358824 0.00006
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile) rs775358063 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr) rs371470848 0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu) rs199603961 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000097.7(CPOX):c.47T>G (p.Val16Gly) rs941183666 0.00006
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000110.4(DPYD):c.2071G>T (p.Val691Leu) rs202212118 0.00006
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) rs141044036 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00006
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) rs775543440 0.00006
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe) rs758725993 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) rs369237977 0.00006
NM_000168.6(GLI3):c.240C>T (p.Asp80=) rs149400571 0.00006
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=) rs202059951 0.00006
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile) rs138100963 0.00006
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) rs200130685 0.00006
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.786G>A (p.Pro262=) rs747648606 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) rs137852489 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000195.5(HPS1):c.760G>A (p.Asp254Asn) rs376078258 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000204.5(CFI):c.130G>A (p.Asp44Asn) rs374036714 0.00006
NM_000204.5(CFI):c.1533A>G (p.Ala511=) rs369715801 0.00006
NM_000204.5(CFI):c.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000210.4(ITGA6):c.729T>C (p.Thr243=) rs369279630 0.00006
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu) rs375075647 0.00006
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=) rs369462022 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.1720+16C>T rs374498402 0.00006
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) rs376092818 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3638G>A (p.Arg1213Gln) rs138007561 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000215.4(JAK3):c.2350+6C>T rs200193137 0.00006
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn) rs373442790 0.00006
NM_000235.4(LIPA):c.*151C>T rs767578516 0.00006
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) rs780133524 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000238.4(KCNH2):c.440A>G (p.His147Arg) rs768938134 0.00006
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys) rs141288548 0.00006
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile) rs140462252 0.00006
NM_000243.3(MEFV):c.1610+8G>A rs765410591 0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter) rs747515115 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000255.4(MMUT):c.1956+17G>C rs199735681 0.00006
NM_000255.4(MMUT):c.912-13G>A rs542038574 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.773-18T>C rs755484970 0.00006
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) rs780609120 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) rs761867896 0.00006
NM_000270.4(PNP):c.172C>T (p.Arg58Ter) rs104894460 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) rs752896980 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg) rs148646884 0.00006
NM_000276.4(OCRL):c.284G>A (p.Arg95His) rs770375201 0.00006
NM_000278.5(PAX2):c.528C>T (p.Ser176=) rs369240774 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735 0.00006
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro) rs369908107 0.00006
NM_000301.5(PLG):c.1722G>A (p.Pro574=) rs146030266 0.00006
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.435C>T (p.Tyr145=) rs550231531 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000312.4(PROC):c.52G>A (p.Gly18Ser) rs146793243 0.00006
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000316.3(PTH1R):c.1254C>T (p.Gly418=) rs750736467 0.00006
NM_000316.3(PTH1R):c.543+4C>T rs199829955 0.00006
NM_000316.3(PTH1R):c.629C>T (p.Ala210Val) rs773638342 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) rs770635298 0.00006
NM_000337.6(SGCD):c.*1990C>T rs558206035 0.00006
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00006
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met) rs191148564 0.00006
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly) rs369637809 0.00006
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) rs201516084 0.00006
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) rs772556641 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_000345.4(SNCA):c.391-16A>G rs371014092 0.00006
NM_000349.3(STAR):c.738C>T (p.Asp246=) rs758031518 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.48C>T (p.Ser16=) rs148710429 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000379.4(XDH):c.1796G>A (p.Arg599His) rs200795066 0.00006
NM_000379.4(XDH):c.33T>G (p.Asn11Lys) rs201779309 0.00006
NM_000379.4(XDH):c.446G>A (p.Arg149His) rs148108999 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000384.3(APOB):c.12677C>T (p.Thr4226Met) rs371177562 0.00006
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys) rs1052000878 0.00006
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp) rs371987644 0.00006
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys) rs146223051 0.00006
NM_000384.3(APOB):c.3508+14C>T rs371596170 0.00006
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg) rs759246439 0.00006
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser) rs529168934 0.00006
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn) rs138005301 0.00006
NM_000384.3(APOB):c.5734A>T (p.Asn1912Tyr) rs186480094 0.00006
NM_000384.3(APOB):c.6019G>A (p.Val2007Met) rs145424390 0.00006
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val) rs200034452 0.00006
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala) rs771792572 0.00006
NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser) rs546747242 0.00006
NM_000384.3(APOB):c.9407G>A (p.Arg3136His) rs199590149 0.00006
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala) rs149166048 0.00006
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000395.3(CSF2RB):c.1381C>T (p.Arg461Cys) rs371045078 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) rs140895872 0.00006
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.5072-9C>A rs770904109 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000429.3(MAT1A):c.227T>C (p.Met76Thr) rs572741145 0.00006
NM_000429.3(MAT1A):c.721G>A (p.Val241Ile) rs147356286 0.00006
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln) rs377307948 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000478.6(ALPL):c.1056G>A (p.Ala352=) rs774824768 0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835 0.00006
NM_000485.3(APRT):c.364A>C (p.Arg122=) rs35095508 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.489+87A>G rs969399514 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638 0.00006
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) rs373856010 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000503.6(EYA1):c.399G>A (p.Pro133=) rs146356299 0.00006
NM_000503.6(EYA1):c.639+17G>C rs199791692 0.00006
NM_000514.4(GDNF):c.447C>T (p.Cys149=) rs368244196 0.00006
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser) rs777451569 0.00006
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser) rs752314022 0.00006
NM_000523.4(HOXD13):c.170C>T (p.Ala57Val) rs755283984 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu) rs775773632 0.00006
NM_000540.3(RYR1):c.10347C>T (p.His3449=) rs373702420 0.00006
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val) rs370630840 0.00006
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met) rs146914779 0.00006
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=) rs141542477 0.00006
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly) rs201321695 0.00006
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His) rs767099429 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065 0.00006
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met) rs138209392 0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) rs141379562 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=) rs749322590 0.00006
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr) rs369194674 0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met) rs781458272 0.00006
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=) rs770942162 0.00006
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu) rs966321446 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00006
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000548.5(TSC2):c.1717-15G>T rs372949465 0.00006
NM_000548.5(TSC2):c.1731C>T (p.Thr577=) rs144122318 0.00006
NM_000548.5(TSC2):c.1946+15G>A rs752601710 0.00006
NM_000548.5(TSC2):c.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.482-16G>A rs200647260 0.00006
NM_000548.5(TSC2):c.600-15C>T rs369708731 0.00006
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076 0.00006
NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys) rs78071458 0.00006
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys) rs45469692 0.00006
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00006
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312 0.00006
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln) rs150480963 0.00006
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala) rs756492434 0.00006
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203 0.00006
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp) rs200289321 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948 0.00006
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910 0.00006
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) rs550482750 0.00006
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg) rs760244872 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) rs537715358 0.00006
NM_000789.4(ACE):c.1088C>T (p.Ala363Val) rs370491569 0.00006
NM_000789.4(ACE):c.1135C>T (p.Arg379Trp) rs750724647 0.00006
NM_000789.4(ACE):c.3163A>C (p.Met1055Leu) rs144926742 0.00006
NM_000829.4(GRIA4):c.276T>A (p.Phe92Leu) rs896602790 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000944.5(PPP3CA):c.497-20C>G rs540323683 0.00006
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=) rs544896068 0.00006
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met) rs771770693 0.00006
NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser) rs141497538 0.00006
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile) rs183474162 0.00006
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001018005.2(TPM1):c.115-335G>T rs587780971 0.00006
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=) rs146776796 0.00006
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=) rs149259534 0.00006
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00006
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr) rs368974917 0.00006
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys) rs727504134 0.00006
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868 0.00006
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile) rs560827790 0.00006
NM_001037333.3(CYFIP2):c.3164C>T (p.Pro1055Leu) rs756207677 0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) rs181420353 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344 0.00006
NM_001041.4(SI):c.5198-7T>C rs200924086 0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562 0.00006
NM_001042413.2(GLIS3):c.1395T>C (p.His465=) rs752606768 0.00006
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu) rs779354091 0.00006
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 0.00006
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001048174.2(MUTYH):c.849A>T (p.Arg283Ser) rs369973885 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg) rs782618362 0.00006
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile) rs375981026 0.00006
NM_001105206.3(LAMA4):c.1551+8G>A rs782128294 0.00006
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His) rs143937452 0.00006
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val) rs372763422 0.00006
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu) rs782805733 0.00006
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln) rs397516732 0.00006
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr) rs377204776 0.00006
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) rs142048329 0.00006
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=) rs781903380 0.00006
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp) rs374968791 0.00006
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) rs377227097 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) rs1414995711 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala) rs777474053 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028 0.00006
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001134363.3(RBM20):c.*3004T>A rs3793704 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys) rs374420210 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00006
NM_001136193.2(FASTKD2):c.1115-10A>G rs747618392 0.00006
NM_001136193.2(FASTKD2):c.1219G>A (p.Val407Met) rs375608544 0.00006
NM_001136193.2(FASTKD2):c.1403A>G (p.His468Arg) rs772042470 0.00006
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) rs150016888 0.00006
NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe) rs149250098 0.00006
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) rs768089496 0.00006
NM_001144967.3(NEDD4L):c.2040C>T (p.Tyr680=) rs373128169 0.00006
NM_001144967.3(NEDD4L):c.243+12A>G rs780590670 0.00006
NM_001144967.3(NEDD4L):c.49-11C>T rs199921263 0.00006
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) rs769599110 0.00006
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val) rs150437645 0.00006
NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln) rs746987182 0.00006
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) rs143043717 0.00006
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln) rs770954138 0.00006
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) rs786205722 0.00006
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn) rs375139170 0.00006
NM_001148.6(ANK2):c.8124A>G (p.Val2708=) rs776586126 0.00006
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) rs200922244 0.00006
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001171.6(ABCC6):c.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) rs372235202 0.00006
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) rs116898670 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) rs749463148 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) rs77913024 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) rs200485267 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 0.00006
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) rs778956327 0.00006
NM_001171155.2(PET100):c.138+3A>T rs756326147 0.00006
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro) rs12619995 0.00006
NM_001174147.2(LMX1B):c.139+19C>T rs371424668 0.00006
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=) rs550024836 0.00006
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842 0.00006
NM_001177316.2(SLC34A3):c.1609C>T (p.Arg537Cys) rs781443814 0.00006
NM_001177316.2(SLC34A3):c.1753G>A (p.Ala585Thr) rs939469698 0.00006
NM_001177316.2(SLC34A3):c.704C>T (p.Ala235Val) rs756672024 0.00006
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val) rs146955708 0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr) rs200055660 0.00006
NM_001195305.3(BBIP1):c.168A>G (p.Leu56=) rs990110859 0.00006
NM_001195305.3(BBIP1):c.175A>C (p.Lys59Gln) rs1332007527 0.00006
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) rs782427944 0.00006
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His) rs372520364 0.00006
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His) rs776311330 0.00006
NM_001243133.2(NLRP3):c.2150+16T>C rs368389907 0.00006
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=) rs145787821 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001244008.2(KIF1A):c.1208-14C>T rs754002758 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val) rs1419052992 0.00006
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=) rs1057521273 0.00006
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro) rs911182620 0.00006
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val) rs763125654 0.00006
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00006
NM_001267550.2(TTN):c.27050-6G>A rs765624428 0.00006
NM_001267550.2(TTN):c.28232G>A (p.Gly9411Glu) rs563866126 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe) rs774402932 0.00006
NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala) rs370157162 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn) rs372881122 0.00006
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln) rs758896047 0.00006
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) rs794729458 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln) rs202126861 0.00006
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile) rs370118111 0.00006
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) rs141105443 0.00006
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp) rs753196873 0.00006
NM_001267550.2(TTN):c.58732+6C>T rs778350235 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp) rs745719077 0.00006
NM_001267550.2(TTN):c.66589C>T (p.Arg22197Trp) rs774696610 0.00006
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys) rs371105318 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His) rs374160272 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr) rs200724395 0.00006
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr) rs768292510 0.00006
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro) rs367807708 0.00006
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00006
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu) rs375008007 0.00006
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) rs550602612 0.00006
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00006
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) rs147203239 0.00006
NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp) rs370840119 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr) rs751535374 0.00006
NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met) rs149307854 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys) rs199918362 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412 0.00006
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987 0.00006
NM_001365536.1(SCN9A):c.561G>A (p.Pro187=) rs200182914 0.00006
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=) rs768730046 0.00006
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) rs542462169 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val) rs543497679 0.00006
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) rs773500082 0.00006
NM_001370595.2(COA8):c.123+6C>T rs2274266 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001372066.1(TFAP2A):c.51+20G>T rs369679945 0.00006
NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=) rs761298686 0.00006
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met) rs551617843 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001377.3(DYNC2H1):c.4762+20T>C rs750684131 0.00006
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu) rs151167488 0.00006
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=) rs769856570 0.00006
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316 0.00006
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817 0.00006
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=) rs368659119 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=) rs565248215 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly) rs375247004 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001379081.2(FREM1):c.1394-15T>C rs762215552 0.00006
NM_001379081.2(FREM1):c.2795G>A (p.Arg932His) rs763918482 0.00006
NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val) rs200883446 0.00006
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=) rs111333359 0.00006
NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala) rs370677344 0.00006
NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg) rs377565472 0.00006
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00006
NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=) rs781100621 0.00006
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg) rs778228882 0.00006
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00006
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val) rs1184764389 0.00006
NM_001384732.1(CPLANE1):c.1371+5A>G rs794727005 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) rs529419886 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) rs148286269 0.00006
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) rs759558910 0.00006
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) rs556705113 0.00006
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=) rs374320265 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) rs202140926 0.00006
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) rs371374142 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001384732.1(CPLANE1):c.938+20T>C rs1391242118 0.00006
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) rs200942752 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_001395656.1(ROBO2):c.1169C>T (p.Ala390Val) rs199705591 0.00006
NM_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu) rs747587140 0.00006
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) rs777061037 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001458.5(FLNC):c.651C>T (p.Asn217=) rs370425863 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) rs774976739 0.00006
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu) rs749622044 0.00006
NM_001692.4(ATP6V1B1):c.585+7C>G rs369075264 0.00006
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117 0.00006
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln) rs148429410 0.00006
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001734.5(C1S):c.622T>C (p.Leu208=) rs144205018 0.00006
NM_001735.3(C5):c.1481A>G (p.Asp494Gly) rs373646644 0.00006
NM_001735.3(C5):c.2033C>T (p.Thr678Met) rs138509814 0.00006
NM_001735.3(C5):c.3068A>G (p.His1023Arg) rs760863207 0.00006
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr) rs147051026 0.00006
NM_001735.3(C5):c.600G>A (p.Thr200=) rs369786622 0.00006
NM_001753.5(CAV1):c.202T>G (p.Phe68Val) rs752571940 0.00006
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001770.6(CD19):c.1035G>C (p.Gln345His) rs533120247 0.00006
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) rs150951022 0.00006
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=) rs142883141 0.00006
NM_001845.6(COL4A1):c.324+20T>C rs764072918 0.00006
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=) rs145903540 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=) rs267603756 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001853.4(COL9A3):c.1548+8G>A rs376918493 0.00006
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_001903.5(CTNNA1):c.2714G>A (p.Ser905Asn) rs756360361 0.00006
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=) rs199643016 0.00006
NM_001963.6(EGF):c.1052G>A (p.Arg351Gln) rs200099199 0.00006
NM_001963.6(EGF):c.1190-10T>C rs373046487 0.00006
NM_001963.6(EGF):c.638G>A (p.Arg213Gln) rs373552129 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_002067.5(GNA11):c.605+10G>A rs535105766 0.00006
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002185.5(IL7R):c.508C>T (p.Arg170Cys) rs145210284 0.00006
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro) rs377230398 0.00006
NM_002204.4(ITGA3):c.3046-5C>T rs374371717 0.00006
NM_002204.4(ITGA3):c.3104C>T (p.Ala1035Val) rs757812706 0.00006
NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val) rs201354330 0.00006
NM_002230.4(JUP):c.-51C>G rs886052920 0.00006
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002234.4(KCNA5):c.193C>T (p.Arg65Trp) rs539270866 0.00006
NM_002234.4(KCNA5):c.917C>A (p.Pro306Gln) rs527534559 0.00006
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_002292.4(LAMB2):c.*92A>G rs886058670 0.00006
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 0.00006
NM_002292.4(LAMB2):c.1890+19A>C rs763388406 0.00006
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) rs373260991 0.00006
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp) rs754551568 0.00006
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) rs149653966 0.00006
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val) rs773681564 0.00006
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=) rs770830943 0.00006
NM_002292.4(LAMB2):c.4573+5G>A rs372438959 0.00006
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln) rs772368832 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu) rs147494515 0.00006
NM_002408.4(MGAT2):c.68T>C (p.Val23Ala) rs371950590 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr) rs369729808 0.00006
NM_002471.4(MYH6):c.226G>A (p.Val76Met) rs977234074 0.00006
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 0.00006
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr) rs202028680 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg) rs776486154 0.00006
NM_002471.4(MYH6):c.4651-14C>A rs902807471 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His) rs778287981 0.00006
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln) rs762103586 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) rs367834703 0.00006
NM_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) rs139039608 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 0.00006
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002529.4(NTRK1):c.1125G>A (p.Met375Ile) rs770611182 0.00006
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) rs192628082 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002661.5(PLCG2):c.114C>T (p.Pro38=) rs750924322 0.00006
NM_002661.5(PLCG2):c.1558-8C>T rs371117206 0.00006
NM_002661.5(PLCG2):c.1629C>T (p.Ala543=) rs374641731 0.00006
NM_002661.5(PLCG2):c.1881C>T (p.Phe627=) rs754739394 0.00006
NM_002661.5(PLCG2):c.1998C>T (p.Asp666=) rs745784908 0.00006
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=) rs370847174 0.00006
NM_002661.5(PLCG2):c.2331G>A (p.Leu777=) rs372491825 0.00006
NM_002661.5(PLCG2):c.2577C>T (p.Asn859=) rs747043855 0.00006
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile) rs754914807 0.00006
NM_002661.5(PLCG2):c.32C>T (p.Ala11Val) rs753458249 0.00006
NM_002661.5(PLCG2):c.3336C>T (p.Ile1112=) rs193128632 0.00006
NM_002661.5(PLCG2):c.3374A>G (p.Tyr1125Cys) rs374877793 0.00006
NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp) rs202108152 0.00006
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val) rs554363067 0.00006
NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe) rs375598204 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys) rs376946722 0.00006
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 0.00006
NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr) rs368439344 0.00006
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) rs772197667 0.00006
NM_002691.4(POLD1):c.496C>T (p.Arg166Trp) rs376236497 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_002878.4(RAD51D):c.263+1641C>T rs142387263 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His) rs758581593 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942 0.00006
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_003098.3(SNTA1):c.1147G>A (p.Val383Met) rs767361112 0.00006
NM_003124.5(SPR):c.448A>G (p.Arg150Gly) rs104893665 0.00006
NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu) rs372168347 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu) rs750324465 0.00006
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_003242.5(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.-337T>A rs1038796042 0.00006
NM_003356.4(UCP3):c.202A>G (p.Met68Val) rs370829405 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys) rs746407658 0.00006
NM_003401.5(XRCC4):c.80C>T (p.Thr27Ile) rs550773308 0.00006
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) rs145300736 0.00006
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) rs139579057 0.00006
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) rs200061013 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003661.4(APOL1):c.1051T>C (p.Tyr351His) rs375837468 0.00006
NM_003661.4(APOL1):c.315-7T>C rs190240132 0.00006
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser) rs763793413 0.00006
NM_003803.4(MYOM1):c.3419G>A (p.Gly1140Glu) rs375843420 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys) rs370847983 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004006.3(DMD):c.6117+15C>T rs754718247 0.00006
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg) rs762708936 0.00006
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser) rs398124071 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004130.4(GYG1):c.175A>G (p.Ile59Val) rs535548906 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn) rs140251789 0.00006
NM_004281.4(BAG3):c.1362C>T (p.Ile454=) rs372417286 0.00006
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys) rs747583925 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser) rs201487919 0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) rs376497260 0.00006
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) rs138573287 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004426.3(PHC1):c.2626C>T (p.Arg876Trp) rs372044180 0.00006
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) rs756068998 0.00006
NM_004482.4(GALNT3):c.1524+5G>A rs375879489 0.00006
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) rs539221514 0.00006
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667 0.00006
NM_004525.3(LRP2):c.10314A>G (p.Gly3438=) rs368626587 0.00006
NM_004525.3(LRP2):c.13728+12C>T rs368463648 0.00006
NM_004525.3(LRP2):c.2435G>A (p.Arg812Lys) rs376367082 0.00006
NM_004525.3(LRP2):c.2455C>T (p.Arg819Cys) rs749942746 0.00006
NM_004525.3(LRP2):c.2540G>A (p.Arg847His) rs537125368 0.00006
NM_004525.3(LRP2):c.2886G>C (p.Ser962=) rs138299719 0.00006
NM_004525.3(LRP2):c.3123T>C (p.Asn1041=) rs1028631475 0.00006
NM_004525.3(LRP2):c.4234C>T (p.Arg1412Trp) rs145669628 0.00006
NM_004525.3(LRP2):c.4524C>T (p.Ile1508=) rs376111498 0.00006
NM_004525.3(LRP2):c.4745C>T (p.Ala1582Val) rs183726294 0.00006
NM_004525.3(LRP2):c.6650G>A (p.Arg2217His) rs369240219 0.00006
NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr) rs143262722 0.00006
NM_004525.3(LRP2):c.7261G>A (p.Val2421Ile) rs138673723 0.00006
NM_004525.3(LRP2):c.7493C>G (p.Ser2498Cys) rs142613860 0.00006
NM_004525.3(LRP2):c.7498C>T (p.Arg2500Cys) rs201081898 0.00006
NM_004525.3(LRP2):c.8513G>A (p.Arg2838His) rs142214474 0.00006
NM_004525.3(LRP2):c.9124G>A (p.Gly3042Arg) rs376039022 0.00006
NM_004560.4(ROR2):c.1105G>A (p.Gly369Arg) rs151187583 0.00006
NM_004560.4(ROR2):c.1863G>A (p.Val621=) rs778321761 0.00006
NM_004560.4(ROR2):c.1997A>G (p.Tyr666Cys) rs1463489541 0.00006
NM_004560.4(ROR2):c.37C>G (p.Leu13Val) rs1053014086 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004588.5(SCN2B):c.140G>A (p.Arg47His) rs17121818 0.00006
NM_004588.5(SCN2B):c.478G>A (p.Val160Met) rs774317271 0.00006
NM_004588.5(SCN2B):c.5A>G (p.His2Arg) rs765743471 0.00006
NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) rs144248214 0.00006
NM_004628.5(XPC):c.*156G>A rs121965092 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly) rs183167499 0.00006
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys) rs368098479 0.00006
NM_004629.2(FANCG):c.464G>A (p.Arg155His) rs201099560 0.00006
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00006
NM_004646.4(NPHS1):c.1316-6C>T rs756437220 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.25G>A (p.Ala9Thr) rs376793744 0.00006
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=) rs373756773 0.00006
NM_004646.4(NPHS1):c.3594+13G>T rs756165265 0.00006
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_004736.4(XPR1):c.1887C>A (p.Ile629=) rs761801981 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_004836.7(EIF2AK3):c.1601T>C (p.Ile534Thr) rs747376208 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu) rs368256210 0.00006
NM_004924.6(ACTN4):c.2191-4G>A rs371779934 0.00006
NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn) rs753091185 0.00006
NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys) rs372129305 0.00006
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254 0.00006
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu) rs142482733 0.00006
NM_004944.4(DNASE1L3):c.801+17G>C rs373633551 0.00006
NM_004946.3(DOCK2):c.286T>C (p.Trp96Arg) rs370949354 0.00006
NM_004958.4(MTOR):c.6810+12G>A rs373052413 0.00006
NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln) rs757483863 0.00006
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00006
NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp) rs777805288 0.00006
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val) rs757726526 0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser) rs755596079 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005097.4(LGI1):c.205G>A (p.Val69Ile) rs147469708 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) rs764599897 0.00006
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala) rs201456476 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) rs139269834 0.00006
NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) rs760328639 0.00006
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu) rs141880803 0.00006
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) rs200495478 0.00006
NM_005515.4(MNX1):c.509C>G (p.Ala170Gly) rs746725337 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val) rs144070976 0.00006
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys) rs587780139 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005660.3(SLC35A2):c.566G>A (p.Gly189Glu) rs782745496 0.00006
NM_005739.4(RASGRP1):c.876T>C (p.Asn292=) rs55728637 0.00006
NM_005751.5(AKAP9):c.11234G>A (p.Gly3745Glu) rs140853603 0.00006
NM_005751.5(AKAP9):c.11351G>A (p.Arg3784Gln) rs148635511 0.00006
NM_005751.5(AKAP9):c.261A>G (p.Leu87=) rs150736347 0.00006
NM_005751.5(AKAP9):c.3563T>C (p.Ile1188Thr) rs147986403 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His) rs759646439 0.00006
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu) rs147772200 0.00006
NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln) rs749345540 0.00006
NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=) rs745898364 0.00006
NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu) rs759179468 0.00006
NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu) rs149492308 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) rs758613421 0.00006
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) rs148611943 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.315+17C>T rs766977344 0.00006
NM_006005.3(WFS1):c.514C>T (p.Leu172=) rs371632935 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) rs769151204 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys) rs770889100 0.00006
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00006
NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln) rs781660163 0.00006
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804 0.00006
NM_006059.4(LAMC3):c.3486C>T (p.Leu1162=) rs368499727 0.00006
NM_006073.4(TRDN):c.1975+8C>T rs754046696 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006129.5(BMP1):c.178G>A (p.Glu60Lys) rs886062818 0.00006
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) rs749353276 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006269.2(RP1):c.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr) rs780214104 0.00006
NM_006361.6(HOXB13):c.140A>G (p.Asn47Ser) rs748333323 0.00006
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945 0.00006
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) rs768841574 0.00006
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006493.4(CLN5):c.152G>A (p.Arg51His) rs367952803 0.00006
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met) rs184521520 0.00006
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter) rs149504103 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr) rs145984257 0.00006
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln) rs375037219 0.00006
NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=) rs185944691 0.00006
NM_006642.5(SDCCAG8):c.220+20C>T rs200013862 0.00006
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) rs374756213 0.00006
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) rs773168431 0.00006
NM_006662.3(SRCAP):c.5658+15C>T rs775744605 0.00006
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=) rs758398423 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg) rs577933870 0.00006
NM_007078.3(LDB3):c.1231+19G>A rs763969244 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_012120.3(CD2AP):c.1633-8G>A rs371517849 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His) rs183136193 0.00006
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) rs200196832 0.00006
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg) rs777911858 0.00006
NM_012210.4(TRIM32):c.973A>G (p.Met325Val) rs148027625 0.00006
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) rs373965521 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) rs140160399 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser) rs199985402 0.00006
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) rs189033496 0.00006
NM_013296.5(GPSM2):c.358G>A (p.Glu120Lys) rs754926445 0.00006
NM_013335.4(GMPPA):c.300C>T (p.Asp100=) rs779526489 0.00006
NM_013339.4(ALG6):c.1128-13T>A rs773823994 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_014000.3(VCL):c.1195A>C (p.Asn399His) rs377228795 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu) rs145393322 0.00006
NM_014000.3(VCL):c.2649A>C (p.Glu883Asp) rs752902180 0.00006
NM_014000.3(VCL):c.592G>A (p.Val198Met) rs760340545 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_014140.4(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120 0.00006
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=) rs773940970 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_014140.4(SMARCAL1):c.2073A>G (p.Lys691=) rs112200018 0.00006
NM_014140.4(SMARCAL1):c.2625+18C>T rs370523069 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596 0.00006
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952 0.00006
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949 0.00006
NM_014159.7(SETD2):c.29C>T (p.Pro10Leu) rs773221585 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met) rs755224888 0.00006
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met) rs201902280 0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu) rs148435870 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014317.5(PDSS1):c.1032A>G (p.Pro344=) rs200147190 0.00006
NM_014336.5(AIPL1):c.658G>A (p.Val220Met) rs751994982 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.2673T>G (p.Ile891Met) rs775260392 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014625.4(NPHS2):c.723C>T (p.Ile241=) rs778145792 0.00006
NM_014625.4(NPHS2):c.885A>G (p.Ala295=) rs146940071 0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_014908.4(DOLK):c.344C>T (p.Ala115Val) rs146804211 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) rs766759178 0.00006
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00006
NM_014956.5(CEP164):c.1399C>T (p.Leu467=) rs528252533 0.00006
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr) rs779345917 0.00006
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr) rs747800943 0.00006
NM_014956.5(CEP164):c.2067-15A>G rs767292266 0.00006
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu) rs377394847 0.00006
NM_014967.5(FAN1):c.2433G>C (p.Leu811=) rs141812435 0.00006
NM_014967.5(FAN1):c.2805G>C (p.Leu935=) rs200468714 0.00006
NM_014994.3(MAPKBP1):c.227A>G (p.Asn76Ser) rs199917154 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015102.5(NPHP4):c.1025G>A (p.Arg342His) rs369550765 0.00006
NM_015102.5(NPHP4):c.1088T>G (p.Val363Gly) rs369344801 0.00006
NM_015102.5(NPHP4):c.1222C>T (p.Pro408Ser) rs201192228 0.00006
NM_015102.5(NPHP4):c.1238T>C (p.Ile413Thr) rs373614448 0.00006
NM_015102.5(NPHP4):c.1439C>T (p.Ser480Leu) rs762305544 0.00006
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=) rs753250092 0.00006
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027 0.00006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048 0.00006
NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) rs775927621 0.00006
NM_015102.5(NPHP4):c.2881C>T (p.Arg961Cys) rs376773394 0.00006
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_015102.5(NPHP4):c.3104C>T (p.Pro1035Leu) rs376508978 0.00006
NM_015102.5(NPHP4):c.3118A>G (p.Met1040Val) rs777310738 0.00006
NM_015102.5(NPHP4):c.3231+5G>A rs886046460 0.00006
NM_015102.5(NPHP4):c.3703C>T (p.Arg1235Cys) rs774386141 0.00006
NM_015102.5(NPHP4):c.3757C>T (p.Arg1253Trp) rs762195159 0.00006
NM_015102.5(NPHP4):c.4118G>A (p.Arg1373Gln) rs768550124 0.00006
NM_015102.5(NPHP4):c.4261G>A (p.Val1421Met) rs371657189 0.00006
NM_015102.5(NPHP4):c.619C>T (p.Leu207=) rs765514910 0.00006
NM_015102.5(NPHP4):c.863G>A (p.Arg288His) rs774872736 0.00006
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213 0.00006
NM_015141.3(GPD1L):c.367-10A>T rs113764055 0.00006
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys) rs72546647 0.00006
NM_015158.5(KANK1):c.1624G>A (p.Val542Met) rs146416309 0.00006
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) rs575779520 0.00006
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) rs138899296 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) rs794727129 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) rs766548555 0.00006
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.729A>G (p.Gln243=) rs775976415 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015512.5(DNAH1):c.10765G>A (p.Asp3589Asn) rs200850423 0.00006
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys) rs141599415 0.00006
NM_015627.3(LDLRAP1):c.-68G>A rs1007363567 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met) rs142920998 0.00006
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile) rs769275482 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val) rs762431558 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn) rs780625068 0.00006
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) rs781006180 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile) rs768237039 0.00006
NM_016335.6(PRODH):c.1295G>A (p.Arg432His) rs143011525 0.00006
NM_016341.4(PLCE1):c.1090A>G (p.Ile364Val) rs372621219 0.00006
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe) rs180753337 0.00006
NM_016341.4(PLCE1):c.6446C>T (p.Pro2149Leu) rs192586920 0.00006
NM_016360.4(TACO1):c.327A>G (p.Leu109=) rs149794197 0.00006
NM_016360.4(TACO1):c.448A>G (p.Ile150Val) rs551788479 0.00006
NM_016360.4(TACO1):c.819G>A (p.Leu273=) rs776813717 0.00006
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala) rs762234986 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_017565.4(FAM20A):c.342C>T (p.Asp114=) rs778101746 0.00006
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) rs369897941 0.00006
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His) rs200773486 0.00006
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs) rs782750497 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017636.4(TRPM4):c.1817C>G (p.Ala606Gly) rs771088249 0.00006
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) rs148006852 0.00006
NM_017662.5(TRPM6):c.118A>T (p.Thr40Ser) rs200010812 0.00006
NM_017662.5(TRPM6):c.5685C>A (p.Thr1895=) rs757763880 0.00006
NM_017662.5(TRPM6):c.945G>A (p.Val315=) rs755989609 0.00006
NM_017668.3(NDE1):c.155C>T (p.Thr52Met) rs148118152 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017775.4(TTC19):c.304C>G (p.Arg102Gly) rs961191529 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.3523-12G>A rs373865383 0.00006
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 0.00006
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met) rs775542739 0.00006
NM_017827.4(SARS2):c.1291C>T (p.Arg431Cys) rs752872984 0.00006
NM_017827.4(SARS2):c.540C>T (p.Val180=) rs371250326 0.00006
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) rs374158705 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_017909.4(RMND1):c.257C>T (p.Ala86Val) rs746842151 0.00006
NM_017947.4(MOCOS):c.1718G>A (p.Gly573Glu) rs771741997 0.00006
NM_017947.4(MOCOS):c.1961-5A>T rs771076927 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn) rs770368316 0.00006
NM_018100.4(EFHC1):c.1A>G (p.Met1Val) rs201520866 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) rs761768584 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 0.00006
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689 0.00006
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018417.6(ADCY10):c.2278A>C (p.Lys760Gln) rs200458596 0.00006
NM_018417.6(ADCY10):c.3746T>C (p.Phe1249Ser) rs368942743 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_018979.4(WNK1):c.2373+18_2373+19insC rs760953797 0.00006
NM_018979.4(WNK1):c.4878G>C (p.Leu1626Phe) rs748898332 0.00006
NM_018979.4(WNK1):c.5121A>G (p.Thr1707=) rs199923381 0.00006
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00006
NM_018979.4(WNK1):c.5870G>A (p.Arg1957His) rs36083875 0.00006
NM_018979.4(WNK1):c.6278G>A (p.Arg2093His) rs200315094 0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met) rs181509591 0.00006
NM_020041.3(SLC2A9):c.759G>A (p.Pro253=) rs747410628 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020208.4(SLC6A20):c.262+4C>T rs777914805 0.00006
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=) rs149505473 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) rs150255709 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020347.4(LZTFL1):c.56G>A (p.Arg19His) rs537401357 0.00006
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) rs146191659 0.00006
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) rs141988913 0.00006
NM_020381.4(PDSS2):c.1002C>T (p.Ile334=) rs375546963 0.00006
NM_020381.4(PDSS2):c.1008+17C>T rs760414222 0.00006
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys) rs370257390 0.00006
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00006
NM_020433.5(JPH2):c.380-20C>T rs779167207 0.00006
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) rs549741547 0.00006
NM_020436.5(SALL4):c.262C>T (p.Leu88=) rs755362179 0.00006
NM_020436.5(SALL4):c.2913G>A (p.Gln971=) rs773001598 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 0.00006
NM_020632.3(ATP6V0A4):c.1385C>T (p.Thr462Met) rs368301208 0.00006
NM_020632.3(ATP6V0A4):c.1909-19C>T rs373949515 0.00006
NM_020632.3(ATP6V0A4):c.812T>A (p.Ile271Asn) rs147475779 0.00006
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_020812.4(DOCK6):c.4198G>A (p.Val1400Met) rs201255040 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020937.4(FANCM):c.1397-16T>A rs752547104 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) rs746030136 0.00006
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) rs139376041 0.00006
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00006
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) rs150447576 0.00006
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020975.6(RET):c.1103G>A (p.Arg368His) rs199529397 0.00006
NM_020975.6(RET):c.2305C>T (p.Leu769=) rs142793711 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2742A>G (p.Pro914=) rs375963128 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_020975.6(RET):c.736C>A (p.His246Asn) rs780756440 0.00006
NM_020987.5(ANK3):c.671A>G (p.Asn224Ser) rs200837964 0.00006
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg) rs776058661 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=) rs56990251 0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) rs377549389 0.00006
NM_021098.3(CACNA1H):c.3155-5C>T rs143582273 0.00006
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) rs753993842 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=) rs555890424 0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583 0.00006
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=) rs369508525 0.00006
NM_021098.3(CACNA1H):c.4350+16G>A rs372361783 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp) rs373867411 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.5039+16C>T rs58019636 0.00006
NM_021098.3(CACNA1H):c.5173+11G>A rs369914581 0.00006
NM_021098.3(CACNA1H):c.5174-20C>T rs749624753 0.00006
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile) rs374558503 0.00006
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) rs58819745 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_021098.3(CACNA1H):c.6049-10G>A rs199547941 0.00006
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp) rs771195242 0.00006
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=) rs375725132 0.00006
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys) rs367584657 0.00006
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu) rs145306938 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00006
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp) rs759034838 0.00006
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) rs765538271 0.00006
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) rs142746353 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_022042.4(SLC26A1):c.1231C>T (p.Arg411Trp) rs554753768 0.00006
NM_022042.4(SLC26A1):c.1531G>A (p.Ala511Thr) rs369620087 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His) rs374202040 0.00006
NM_022356.4(P3H1):c.1224G>A (p.Lys408=) rs778202277 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_022489.4(INF2):c.2879-10C>T rs534732317 0.00006
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867 0.00006
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00006
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) rs148885547 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.633G>A (p.Ser211=) rs921883036 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His) rs202022988 0.00006
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) rs369664394 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr) rs368317393 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) rs146878400 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) rs760381850 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) rs536644825 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) rs56867176 0.00006
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_025074.7(FRAS1):c.10129G>A (p.Val3377Ile) rs573489939 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val) rs373595232 0.00006
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly) rs550166836 0.00006
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) rs367598897 0.00006
NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg) rs199918192 0.00006
NM_025074.7(FRAS1):c.2803G>C (p.Gly935Arg) rs200113218 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025114.4(CEP290):c.189T>C (p.Ala63=) rs996908777 0.00006
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys) rs376425111 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_025114.4(CEP290):c.755A>T (p.Lys252Met) rs991079890 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=) rs766593230 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) rs750911924 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953 0.00006
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg) rs760669739 0.00006
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) rs373039242 0.00006
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_031885.5(BBS2):c.1797+13G>A rs769739310 0.00006
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) rs199918247 0.00006
NM_031942.5(CDCA7):c.731C>T (p.Pro244Leu) rs770948684 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032122.5(DTNBP1):c.355+10A>G rs368923800 0.00006
NM_032383.5(HPS3):c.159G>T (p.Gln53His) rs774480483 0.00006
NM_032387.5(WNK4):c.1827A>G (p.Pro609=) rs201340788 0.00006
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile) rs769577430 0.00006
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys) rs149857605 0.00006
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu) rs200363140 0.00006
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys) rs146021821 0.00006
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val) rs773539191 0.00006
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln) rs145194745 0.00006
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu) rs150053867 0.00006
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val) rs746717279 0.00006
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) rs201622632 0.00006
NM_032444.4(SLX4):c.258A>G (p.Ile86Met) rs112205823 0.00006
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr) rs148428054 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226 0.00006
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=) rs772652088 0.00006
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg) rs926938694 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser) rs551385115 0.00006
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00006
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His) rs201036767 0.00006
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln) rs373558741 0.00006
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_032856.5(WDR73):c.267A>G (p.Leu89=) rs772299478 0.00006
NM_032901.4(COX14):c.150A>G (p.Glu50=) rs372336241 0.00006
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser) rs375558008 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_033028.5(BBS4):c.643-6T>C rs753675755 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val) rs982188184 0.00006
NM_033380.3(COL4A5):c.528A>G (p.Pro176=) rs780845413 0.00006
NM_052874.5(STX1B):c.32C>T (p.Ala11Val) rs368619665 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala) rs374420141 0.00006
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681 0.00006
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=) rs780768361 0.00006
NM_053025.4(MYLK):c.3899C>T (p.Ala1300Val) rs201265306 0.00006
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) rs559933360 0.00006
NM_053025.4(MYLK):c.848C>T (p.Ser283Leu) rs150096018 0.00006
NM_058195.4(CDKN2A):c.94G>A (p.Gly32Arg) rs879254043 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) rs763948159 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14321A>G (p.Lys4774Arg) rs768589711 0.00006
NM_133379.5(TTN):c.16582G>A (p.Gly5528Ser) rs762590088 0.00006
NM_138694.4(PKHD1):c.10252G>A (p.Ala3418Thr) rs776589273 0.00006
NM_138694.4(PKHD1):c.10775A>G (p.Gln3592Arg) rs761871204 0.00006
NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro) rs139442289 0.00006
NM_138694.4(PKHD1):c.11123T>C (p.Met3708Thr) rs373896034 0.00006
NM_138694.4(PKHD1):c.11506+14G>C rs371687822 0.00006
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=) rs1443176251 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly) rs528966196 0.00006
NM_138694.4(PKHD1):c.6352G>A (p.Glu2118Lys) rs751529187 0.00006
NM_138694.4(PKHD1):c.6779A>G (p.Tyr2260Cys) rs374132086 0.00006
NM_138694.4(PKHD1):c.7567A>G (p.Ile2523Val) rs146962673 0.00006
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=) rs374869252 0.00006
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) rs139214644 0.00006
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val) rs587697598 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr) rs747781785 0.00006
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys) rs547319928 0.00006
NM_144573.4(NEXN):c.687+4A>T rs754061340 0.00006
NM_144585.4(SLC22A12):c.476G>A (p.Gly159Glu) rs374684921 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 0.00006
NM_144596.4(TTC8):c.874G>A (p.Val292Ile) rs375086490 0.00006
NM_144596.4(TTC8):c.913A>G (p.Met305Val) rs143237548 0.00006
NM_144672.4(OTOA):c.1440G>T (p.Gln480His) rs201185187 0.00006
NM_144687.4(NLRP12):c.2785G>A (p.Ala929Thr) rs146368839 0.00006
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp) rs142008002 0.00006
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_144997.7(FLCN):c.396+7C>T rs781155484 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_152468.5(TMC8):c.1128-6C>T rs1002758195 0.00006
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala) rs202162088 0.00006
NM_152732.5(RSPH9):c.281C>T (p.Ala94Val) rs142194323 0.00006
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337 0.00006
NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val) rs745831184 0.00006
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val) rs202145723 0.00006
NM_153240.5(NPHP3):c.3062C>T (p.Ala1021Val) rs759153335 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_153676.4(USH1C):c.2112A>G (p.Pro704=) rs199532754 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys) rs141181516 0.00006
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 0.00006
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061 0.00006
NM_173354.5(SIK1):c.207G>A (p.Glu69=) rs201818967 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) rs376870807 0.00006
NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu) rs200373053 0.00006
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe) rs781343581 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_176824.3(BBS7):c.1231-16T>C rs781657811 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg) rs752116341 0.00006
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys) rs768222931 0.00006
NM_177972.3(TUB):c.1232T>A (p.Leu411Gln) rs200239459 0.00006
NM_178138.6(LHX3):c.919C>A (p.Arg307=) rs145867977 0.00006
NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser) rs368688884 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser) rs144859767 0.00006
NM_178170.3(NEK8):c.1992C>G (p.His664Gln) rs145275797 0.00006
NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln) rs199635350 0.00006
NM_178170.3(NEK8):c.976C>T (p.Arg326Trp) rs56286645 0.00006
NM_178170.3(NEK8):c.977G>A (p.Arg326Gln) rs200972000 0.00006
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=) rs142601761 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) rs76055170 0.00006
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile) rs557729565 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_198252.3(GSN):c.1191+14G>A rs377308627 0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) rs138341672 0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) rs774085705 0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) rs371320840 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198334.3(GANAB):c.1594-9C>T rs200289173 0.00006
NM_198334.3(GANAB):c.253G>A (p.Val85Met) rs1033126561 0.00006
NM_198334.3(GANAB):c.381-10T>C rs371678104 0.00006
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578 0.00006
NM_198428.3(BBS9):c.2115+19A>G rs184420556 0.00006
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) rs754343745 0.00006
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr) rs769897141 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) rs35517158 0.00006
NM_198578.4(LRRK2):c.6928A>G (p.Thr2310Ala) rs202179802 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) rs140614930 0.00006
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) rs148674271 0.00006
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) rs139749312 0.00006
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala) rs151274272 0.00006
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) rs994878062 0.00006
NM_203446.3(SYNJ1):c.3697+12T>G rs763338383 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) rs775726030 0.00006
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) rs374697035 0.00006
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val) rs141900626 0.00006
NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys) rs140036522 0.00006
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr) rs753652530 0.00006
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) rs374178459 0.00006
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val) rs760834204 0.00006
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met) rs201978814 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) rs532827189 0.00006
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly) rs199941833 0.00006
NM_212482.4(FN1):c.5943T>C (p.Ala1981=) rs200485690 0.00006
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) rs372237449 0.00006
NM_212482.4(FN1):c.6157+4T>C rs779209474 0.00006
NM_212482.4(FN1):c.7116C>T (p.Asn2372=) rs568449322 0.00006
NM_212482.4(FN1):c.862G>A (p.Asp288Asn) rs200731330 0.00006
NM_213655.5(WNK1):c.2363G>A (p.Arg788His) rs762594801 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val) rs374729641 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) rs373698024 0.00005
NM_000053.4(ATP7B):c.582C>T (p.Pro194=) rs780671732 0.00005
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259 0.00005
NM_000054.7(AVPR2):c.663C>T (p.Ile221=) rs13306212 0.00005
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) rs531738678 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp) rs148698696 0.00005
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu) rs373392964 0.00005
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) rs368788004 0.00005
NM_000067.3(CA2):c.649G>A (p.Val217Ile) rs539558180 0.00005
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg) rs201916339 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln) rs200446048 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=) rs755312698 0.00005
NM_000091.5(COL4A3):c.325-20G>A rs760968700 0.00005
NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala) rs769300622 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=) rs200849651 0.00005
NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn) rs376401228 0.00005
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=) rs375189390 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys) rs373531113 0.00005
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) rs751015814 0.00005
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) rs376302719 0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu) rs200719554 0.00005
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723 0.00005
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly) rs755085498 0.00005
NM_000138.5(FBN1):c.466A>C (p.Asn156His) rs746352371 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) rs749807129 0.00005
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) rs376722018 0.00005
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) rs375975797 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_000216.4(ANOS1):c.1419C>T (p.Thr473=) rs781745609 0.00005
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) rs1057519373 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr) rs199473446 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111 0.00005
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) rs1480554629 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) rs374912424 0.00005
NM_000238.4(KCNH2):c.491G>A (p.Arg164His) rs199472866 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr) rs727503198 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His) rs117354682 0.00005
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys) rs765825263 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln) rs368575559 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp) rs730880828 0.00005
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) rs376280495 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys) rs756570535 0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys) rs11554325 0.00005
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn) rs748354306 0.00005
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro) rs149728995 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000313.4(PROS1):c.*550G>A rs925792694 0.00005
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu) rs565325519 0.00005
NM_000316.3(PTH1R):c.1112T>C (p.Ile371Thr) rs140414216 0.00005
NM_000316.3(PTH1R):c.1736A>C (p.Glu579Ala) rs201878291 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544 0.00005
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) rs376183542 0.00005
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His) rs374314562 0.00005
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000337.6(SGCD):c.*5884A>G rs760303963 0.00005
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00005
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys) rs200308405 0.00005
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe) rs201689857 0.00005
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met) rs200727862 0.00005
NM_000349.3(STAR):c.402T>C (p.Tyr134=) rs144881901 0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly) rs373741115 0.00005
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000376.3(VDR):c.162G>A (p.Arg54=) rs774173372 0.00005
NM_000376.3(VDR):c.199C>T (p.Arg67Cys) rs369248365 0.00005
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_000379.4(XDH):c.1602+1G>A rs376882470 0.00005
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys) rs202023189 0.00005
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg) rs374411400 0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser) rs183398286 0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295 0.00005
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys) rs758067709 0.00005
NM_000384.3(APOB):c.7336G>A (p.Val2446Met) rs777259835 0.00005
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly) rs779100523 0.00005
NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe) rs1225631813 0.00005
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu) rs185224477 0.00005
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter) rs778220325 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000428.3(LTBP2):c.2388+8C>T rs201838800 0.00005
NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg) rs370119182 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser) rs752995216 0.00005
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=) rs920286007 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) rs764962408 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000478.6(ALPL):c.918C>T (p.Asp306=) rs373257447 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000485.3(APRT):c.482C>T (p.Ser161Leu) rs766909450 0.00005
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) rs104894328 0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) rs61751135 0.00005
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) rs771614097 0.00005
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) rs769533897 0.00005
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu) rs528225943 0.00005
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys) rs890373465 0.00005
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp) rs140686309 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys) rs578234912 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876 0.00005
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys) rs202111332 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser) rs374982449 0.00005
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His) rs145183043 0.00005
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile) rs775112172 0.00005
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe) rs781377124 0.00005
NM_000548.5(TSC2):c.1599+9C>T rs776274603 0.00005
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 0.00005
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys) rs779082753 0.00005
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) rs557058340 0.00005
NM_000719.7(CACNA1C):c.2339+18C>T rs778390407 0.00005
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=) rs200259564 0.00005
NM_000789.4(ACE):c.1460G>A (p.Arg487His) rs376430907 0.00005
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln) rs530587789 0.00005
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter) rs746985291 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg) rs569010694 0.00005
NM_000901.5(NR3C2):c.1824T>C (p.Asp608=) rs557002204 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys) rs137968278 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) rs775594743 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro) rs755128358 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001023570.4(IQCB1):c.876+19A>G rs368053119 0.00005
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001041.4(SI):c.1420T>C (p.Tyr474His) rs771986263 0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys) rs371618948 0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser) rs138778317 0.00005
NM_001041.4(SI):c.2894G>A (p.Gly965Asp) rs144419320 0.00005
NM_001041.4(SI):c.4000-15T>A rs201336234 0.00005
NM_001041.4(SI):c.4500C>T (p.Asp1500=) rs553547580 0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001041.4(SI):c.807+8A>G rs759240554 0.00005
NM_001042413.2(GLIS3):c.2297+16T>C rs377104078 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=) rs201648604 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001077415.3(CRELD1):c.796dup (p.Glu266fs) rs773417792 0.00005
NM_001077653.2(TBX20):c.426T>C (p.Pro142=) rs373924069 0.00005
NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys) rs13237089 0.00005
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His) rs771252024 0.00005
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu) rs141618813 0.00005
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=) rs747139348 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001083961.2(WDR62):c.1640C>T (p.Thr547Met) rs756313871 0.00005
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298 0.00005
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His) rs1195010293 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.537-14C>T rs577211083 0.00005
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val) rs371083384 0.00005
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys) rs147206383 0.00005
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His) rs148462898 0.00005
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu) rs1255830395 0.00005
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe) rs145315273 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=) rs139626310 0.00005
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln) rs150147528 0.00005
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met) rs182450244 0.00005
NM_001130987.2(DYSF):c.3184C>T (p.Arg1062Cys) rs539727858 0.00005
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001142800.2(EYS):c.1253A>G (p.Asn418Ser) rs200542517 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001144967.3(NEDD4L):c.2353-19T>C rs773754441 0.00005
NM_001144967.3(NEDD4L):c.285C>T (p.Asp95=) rs185602532 0.00005
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00005
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn) rs754642933 0.00005
NM_001148.6(ANK2):c.229G>A (p.Val77Met) rs776254819 0.00005
NM_001148.6(ANK2):c.2900+5143G>A rs368551890 0.00005
NM_001148.6(ANK2):c.4259C>T (p.Thr1420Met) rs779367457 0.00005
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg) rs369680021 0.00005
NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu) rs146531225 0.00005
NM_001148.6(ANK2):c.8659C>T (p.Pro2887Ser) rs1050108506 0.00005
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly) rs142302291 0.00005
NM_001148.6(ANK2):c.9055A>G (p.Met3019Val) rs370499072 0.00005
NM_001148.6(ANK2):c.9242A>T (p.Asp3081Val) rs962522673 0.00005
NM_001148.6(ANK2):c.9936C>T (p.Ser3312=) rs758162927 0.00005
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) rs138049574 0.00005
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) rs762758350 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001174089.2(SLC4A11):c.2192+1G>A rs759540763 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001177316.2(SLC34A3):c.1060G>A (p.Val354Met) rs534880363 0.00005
NM_001177316.2(SLC34A3):c.1072G>A (p.Val358Met) rs770332251 0.00005
NM_001177316.2(SLC34A3):c.1135G>A (p.Val379Ile) rs368525218 0.00005
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=) rs200677629 0.00005
NM_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys) rs751031882 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_001204.7(BMPR2):c.150A>G (p.Arg50=) rs201759998 0.00005
NM_001204.7(BMPR2):c.2526G>T (p.Arg842Ser) rs368819325 0.00005
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=) rs199822721 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile) rs757070178 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His) rs753658469 0.00005
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=) rs72629781 0.00005
NM_001267550.2(TTN):c.10204G>A (p.Glu3402Lys) rs766262957 0.00005
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln) rs199642423 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met) rs754231728 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His) rs773986121 0.00005
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn) rs553520141 0.00005
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala) rs940553223 0.00005
NM_001267550.2(TTN):c.32555-2A>C rs781581062 0.00005
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu) rs397517543 0.00005
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser) rs565328082 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) rs752970602 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His) rs746380621 0.00005
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) rs150364979 0.00005
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile) rs138931943 0.00005
NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr) rs886042536 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60221-19T>C rs533551256 0.00005
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys) rs756303390 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu) rs756671149 0.00005
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val) rs370857722 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His) rs371910831 0.00005
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381 0.00005
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg) rs545841306 0.00005
NM_001267550.2(TTN):c.86448C>A (p.Asn28816Lys) rs774349799 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser) rs761251825 0.00005
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile) rs761591533 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu) rs965156924 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=) rs1037997977 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001282225.2(ADA2):c.702G>A (p.Glu234=) rs528271447 0.00005
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) rs534473091 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001291415.2(KDM6A):c.1363G>A (p.Val455Ile) rs1247978055 0.00005
NM_001291867.2(NHS):c.152C>T (p.Ala51Val) rs727504039 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) rs556362158 0.00005
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu) rs144102076 0.00005
NM_001349206.2(LPIN1):c.945G>T (p.Pro315=) rs754677964 0.00005
NM_001354604.2(MITF):c.1159C>T (p.His387Tyr) rs140374965 0.00005
NM_001354604.2(MITF):c.1229C>T (p.Thr410Met) rs369552358 0.00005
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001363118.2(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075 0.00005
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr) rs755139637 0.00005
NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys) rs199933920 0.00005
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) rs771823092 0.00005
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=) rs770986542 0.00005
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=) rs773547505 0.00005
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly) rs369783406 0.00005
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His) rs764176270 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001372066.1(TFAP2A):c.474C>G (p.Ile158Met) rs1295010353 0.00005
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448 0.00005
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) rs372055203 0.00005
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu) rs530985565 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr) rs1023974968 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=) rs377652187 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384479.1(AGT):c.363G>A rs752658346 0.00005
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=) rs773819961 0.00005
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val) rs965483152 0.00005
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) rs372380629 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del) rs886043021 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp) rs374794518 0.00005
NM_001486.4(GCKR):c.1550G>A (p.Trp517Ter) rs371460190 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001625.4(AK2):c.615G>C (p.Gly205=) rs769651837 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001735.3(C5):c.2686G>T (p.Val896Leu) rs370940275 0.00005
NM_001735.3(C5):c.407C>A (p.Thr136Asn) rs776192715 0.00005
NM_001735.3(C5):c.4205T>C (p.Ile1402Thr) rs371503868 0.00005
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) rs139205058 0.00005
NM_001845.6(COL4A1):c.2716+16A>G rs767749066 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001863.5(COX6B1):c.-11-8G>A rs200312775 0.00005
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001963.6(EGF):c.887A>C (p.Lys296Thr) rs760127815 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_002067.5(GNA11):c.287C>T (p.Thr96Met) rs756991534 0.00005
NM_002067.5(GNA11):c.322-5C>T rs773020890 0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591 0.00005
NM_002246.3(KCNK3):c.826G>A (p.Gly276Ser) rs986931065 0.00005
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu) rs770637532 0.00005
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu) rs758124972 0.00005
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val) rs750000849 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val) rs757984116 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4489-6C>T rs377737536 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=) rs752602099 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val) rs587780763 0.00005
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) rs373457153 0.00005
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=) rs142767538 0.00005
NM_002471.4(MYH6):c.5661+9A>G rs373908250 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) rs373815046 0.00005
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002661.5(PLCG2):c.1073-15C>T rs371214101 0.00005
NM_002661.5(PLCG2):c.1464C>T (p.Asp488=) rs777149251 0.00005
NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val) rs748644186 0.00005
NM_002661.5(PLCG2):c.323C>T (p.Thr108Met) rs535715020 0.00005
NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile) rs552036893 0.00005
NM_002661.5(PLCG2):c.3571-10C>T rs376240742 0.00005
NM_002661.5(PLCG2):c.407C>T (p.Ala136Val) rs777990663 0.00005
NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr) rs142022471 0.00005
NM_002661.5(PLCG2):c.925G>A (p.Val309Met) rs768664050 0.00005
NM_002662.5(PLD1):c.1982A>T (p.Asp661Val) rs762462912 0.00005
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) rs769459903 0.00005
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg) rs370700905 0.00005
NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser) rs140384285 0.00005
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00005
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys) rs755114089 0.00005
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys) rs138164106 0.00005
NM_003098.3(SNTA1):c.782C>T (p.Ala261Val) rs139467962 0.00005
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln) rs376051062 0.00005
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) rs563767876 0.00005
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) rs754831171 0.00005
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245 0.00005
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734 0.00005
NM_003661.4(APOL1):c.390C>T (p.His130=) rs760970273 0.00005
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_003764.4(STX11):c.106G>C (p.Glu36Gln) rs373333798 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_003901.4(SGPL1):c.705-13C>T rs139455250 0.00005
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu) rs142739200 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004006.3(DMD):c.146G>A (p.Arg49His) rs765584669 0.00005
NM_004006.3(DMD):c.1654G>T (p.Val552Phe) rs748690103 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr) rs201516290 0.00005
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu) rs371588290 0.00005
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg) rs750419527 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe) rs185247491 0.00005
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00005
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.51G>A (p.Ala17=) rs764698195 0.00005
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys) rs747820097 0.00005
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_004304.5(ALK):c.397C>T (p.Arg133Cys) rs775940832 0.00005
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) rs769768770 0.00005
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004525.3(LRP2):c.1043-19T>C rs374755698 0.00005
NM_004525.3(LRP2):c.10681A>G (p.Ser3561Gly) rs112419538 0.00005
NM_004525.3(LRP2):c.10921C>T (p.Arg3641Trp) rs373064113 0.00005
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr) rs778317120 0.00005
NM_004525.3(LRP2):c.12124C>T (p.Arg4042Cys) rs752766559 0.00005
NM_004525.3(LRP2):c.2113A>G (p.Ile705Val) rs140552043 0.00005
NM_004525.3(LRP2):c.4732C>T (p.Arg1578Cys) rs768876882 0.00005
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 0.00005
NM_004525.3(LRP2):c.8530G>A (p.Gly2844Arg) rs533432746 0.00005
NM_004525.3(LRP2):c.9312C>T (p.Ser3104=) rs538919316 0.00005
NM_004525.3(LRP2):c.9539C>T (p.Pro3180Leu) rs753134418 0.00005
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=) rs149558767 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004560.4(ROR2):c.2521C>G (p.Gln841Glu) rs771461100 0.00005
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103 0.00005
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) rs113786548 0.00005
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_004629.2(FANCG):c.704C>T (p.Ala235Val) rs574975594 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=) rs149815919 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) rs368463146 0.00005
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=) rs1052744793 0.00005
NM_004836.7(EIF2AK3):c.857A>G (p.Asn286Ser) rs150474217 0.00005
NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile) rs564122319 0.00005
NM_004937.3(CTNS):c.225+19C>T rs550960394 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys) rs374713985 0.00005
NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr) rs1365532889 0.00005
NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu) rs376718983 0.00005
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln) rs373583840 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His) rs548130184 0.00005
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp) rs200896834 0.00005
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_005515.4(MNX1):c.853-4G>T rs751247773 0.00005
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) rs375630981 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 0.00005
NM_005732.4(RAD50):c.3880G>A (p.Asp1294Asn) rs587782339 0.00005
NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly) rs200596189 0.00005
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_005751.5(AKAP9):c.10713+4A>G rs539934550 0.00005
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys) rs146264747 0.00005
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) rs774110970 0.00005
NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly) rs777752444 0.00005
NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile) rs369212896 0.00005
NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=) rs1318456659 0.00005
NM_006005.3(WFS1):c.1026C>T (p.Ala342=) rs777072078 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) rs199697430 0.00005
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) rs377712049 0.00005
NM_006005.3(WFS1):c.444C>T (p.Cys148=) rs998539254 0.00005
NM_006005.3(WFS1):c.477C>T (p.Asn159=) rs753964845 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006059.4(LAMC3):c.1241G>A (p.Arg414His) rs372564761 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.4011C>T (p.Ser1337=) rs756716850 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val) rs756133876 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=) rs377358593 0.00005
NM_006642.5(SDCCAG8):c.67+20T>C rs562137055 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu) rs374858506 0.00005
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006904.7(PRKDC):c.4580G>A (p.Arg1527His) rs768314532 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_006941.4(SOX10):c.768G>A (p.Pro256=) rs773109683 0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768 0.00005
NM_007074.4(CORO1A):c.520G>A (p.Val174Met) rs769707848 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln) rs768858988 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=) rs201127594 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr) rs200326473 0.00005
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile) rs141953092 0.00005
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) rs558904762 0.00005
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_014000.3(VCL):c.1287T>A (p.Asp429Glu) rs139371702 0.00005
NM_014000.3(VCL):c.1583G>A (p.Arg528His) rs746095066 0.00005
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671 0.00005
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val) rs370614125 0.00005
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp) rs372225444 0.00005
NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys) rs371945959 0.00005
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val) rs201260191 0.00005
NM_014425.5(INVS):c.103G>A (p.Val35Ile) rs368173855 0.00005
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) rs374381370 0.00005
NM_014425.5(INVS):c.524T>C (p.Ile175Thr) rs766187142 0.00005
NM_014444.5(TUBGCP4):c.998G>A (p.Arg333His) rs183013671 0.00005
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014780.5(CUL7):c.587G>A (p.Arg196Gln) rs761377936 0.00005
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg) rs727504224 0.00005
NM_014844.5(TECPR2):c.1652A>G (p.Glu551Gly) rs778600439 0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) rs754150966 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg) rs778958469 0.00005
NM_014956.5(CEP164):c.237C>T (p.Asn79=) rs149281923 0.00005
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala) rs200571532 0.00005
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg) rs370039438 0.00005
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys) rs148650653 0.00005
NM_014956.5(CEP164):c.710C>A (p.Pro237His) rs567606919 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015102.5(NPHP4):c.1129G>A (p.Val377Ile) rs751685493 0.00005
NM_015102.5(NPHP4):c.1504-12C>G rs753092403 0.00005
NM_015102.5(NPHP4):c.1709A>G (p.Glu570Gly) rs200634524 0.00005
NM_015102.5(NPHP4):c.1763+14C>G rs752748198 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_015102.5(NPHP4):c.2143+3G>T rs762882392 0.00005
NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp) rs768582000 0.00005
NM_015102.5(NPHP4):c.2594C>T (p.Thr865Met) rs368898819 0.00005
NM_015102.5(NPHP4):c.2647G>A (p.Val883Met) rs769851221 0.00005
NM_015102.5(NPHP4):c.2798G>A (p.Arg933Gln) rs768347263 0.00005
NM_015102.5(NPHP4):c.3037G>A (p.Glu1013Lys) rs771042265 0.00005
NM_015102.5(NPHP4):c.3434A>G (p.Lys1145Arg) rs923103631 0.00005
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924 0.00005
NM_015102.5(NPHP4):c.64C>T (p.Arg22Cys) rs773309269 0.00005
NM_015102.5(NPHP4):c.694C>T (p.Arg232Cys) rs572497035 0.00005
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) rs142210244 0.00005
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) rs776210843 0.00005
NM_015272.5(RPGRIP1L):c.1029+3A>C rs778583149 0.00005
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys) rs139964287 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu) rs141574764 0.00005
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984 0.00005
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg) rs570475423 0.00005
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) rs200416242 0.00005
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn) rs777398021 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=) rs779726809 0.00005
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) rs772969960 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met) rs777930066 0.00005
NM_016341.4(PLCE1):c.634G>A (p.Asp212Asn) rs776583769 0.00005
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp) rs775868906 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr) rs199914741 0.00005
NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys) rs782130905 0.00005
NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp) rs575947480 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017636.4(TRPM4):c.1495C>T (p.Arg499Trp) rs371377895 0.00005
NM_017662.5(TRPM6):c.218C>T (p.Ala73Val) rs778083572 0.00005
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.3202-3T>C rs1060503183 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) rs368934543 0.00005
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr) rs201942359 0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His) rs149610399 0.00005
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) rs369275802 0.00005
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_018417.6(ADCY10):c.2111A>G (p.Asp704Gly) rs202048906 0.00005
NM_018417.6(ADCY10):c.4816G>A (p.Val1606Met) rs201892899 0.00005
NM_018965.4(TREM2):c.486C>G (p.Ser162Arg) rs371702633 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_018979.4(WNK1):c.2139+7A>G rs757902795 0.00005
NM_018979.4(WNK1):c.29G>A (p.Ser10Asn) rs867437047 0.00005
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) rs56262445 0.00005
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys) rs199529532 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_020297.4(ABCC9):c.4512+777G>A rs542730918 0.00005
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu) rs373021095 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_020632.3(ATP6V0A4):c.1792T>C (p.Trp598Arg) rs368553213 0.00005
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) rs1257244524 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) rs565347397 0.00005
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879 0.00005
NM_020937.4(FANCM):c.3852T>G (p.Asp1284Glu) rs778247426 0.00005
NM_020975.6(RET):c.1363G>A (p.Val455Ile) rs145966037 0.00005
NM_020975.6(RET):c.1476C>G (p.Thr492=) rs758249079 0.00005
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) rs372191563 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_020975.6(RET):c.73+17G>T rs763327195 0.00005
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=) rs370061462 0.00005
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) rs960225573 0.00005
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys) rs577233623 0.00005
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His) rs994418105 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=) rs746896203 0.00005
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611 0.00005
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu) rs765181693 0.00005
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg) rs752799249 0.00005
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=) rs560635024 0.00005
NM_021098.3(CACNA1H):c.3155-4G>A rs543267343 0.00005
NM_021098.3(CACNA1H):c.4039-17C>T rs775820161 0.00005
NM_021098.3(CACNA1H):c.4223+14C>T rs538104013 0.00005
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile) rs759669950 0.00005
NM_021098.3(CACNA1H):c.4778-4G>A rs779949902 0.00005
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385 0.00005
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=) rs754501360 0.00005
NM_021098.3(CACNA1H):c.5888-16T>A rs965860206 0.00005
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr) rs771909122 0.00005
NM_021098.3(CACNA1H):c.699C>T (p.Val233=) rs200398792 0.00005
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys) rs780188711 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) rs759124595 0.00005
NM_021922.3(FANCE):c.856-3C>T rs749111562 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys) rs761750025 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_022454.4(SOX17):c.549C>T (p.Phe183=) rs929689090 0.00005
NM_022454.4(SOX17):c.948A>G (p.Gln316=) rs888660919 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_022489.4(INF2):c.2879-9G>A rs373139405 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys) rs146235767 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys) rs141878560 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) rs372734645 0.00005
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) rs142343372 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val) rs757827254 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser) rs138562955 0.00005
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) rs772941624 0.00005
NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu) rs778174997 0.00005
NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys) rs773283272 0.00005
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp) rs779931297 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025114.4(CEP290):c.441+18T>C rs756876705 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_025114.4(CEP290):c.6358-4G>A rs369154492 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln) rs776538115 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_031466.8(TRAPPC9):c.-73G>C rs767996463 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_032119.4(ADGRV1):c.362C>T (p.Pro121Leu) rs200730114 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) rs372280083 0.00005
NM_032444.4(SLX4):c.1379G>A (p.Arg460His) rs369994733 0.00005
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met) rs755156257 0.00005
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser) rs780269002 0.00005
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr) rs759223029 0.00005
NM_032444.4(SLX4):c.2259C>G (p.His753Gln) rs374294258 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys) rs569194362 0.00005
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly) rs761238767 0.00005
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val) rs186036075 0.00005
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met) rs765601038 0.00005
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356 0.00005
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu) rs771200478 0.00005
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn) rs778569160 0.00005
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys) rs762619200 0.00005
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp) rs199736788 0.00005
NM_032444.4(SLX4):c.668G>A (p.Arg223His) rs762475814 0.00005
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=) rs202183926 0.00005
NM_033026.6(PCLO):c.11945G>A (p.Arg3982His) rs371334306 0.00005
NM_033028.5(BBS4):c.1170C>T (p.Asn390=) rs376378002 0.00005
NM_033028.5(BBS4):c.76+18dup rs745516764 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) rs747288279 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) rs189505310 0.00005
NM_053025.4(MYLK):c.4153C>T (p.Arg1385Cys) rs373683421 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_057176.3(BSND):c.673C>T (p.Gln225Ter) rs776107884 0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_080860.4(RSPH1):c.727+5G>A rs200382776 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr) rs144967245 0.00005
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp) rs201308378 0.00005
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg) rs201824369 0.00005
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.4265G>A (p.Arg1422Gln) rs557773345 0.00005
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser) rs149293970 0.00005
NM_138694.4(PKHD1):c.5687C>T (p.Thr1896Met) rs140996978 0.00005
NM_138694.4(PKHD1):c.6565G>A (p.Val2189Ile) rs142552070 0.00005
NM_138694.4(PKHD1):c.8813C>T (p.Thr2938Met) rs776068047 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_138694.4(PKHD1):c.977-20G>A rs753880972 0.00005
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn) rs782518928 0.00005
NM_139027.6(ADAMTS13):c.540-3G>A rs886063631 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser) rs771231605 0.00005
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) rs756787389 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu) rs531931336 0.00005
NM_152383.5(DIS3L2):c.1876G>A (p.Asp626Asn) rs374482102 0.00005
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=) rs201861233 0.00005
NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys) rs146398351 0.00005
NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys) rs143390199 0.00005
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro) rs867826443 0.00005
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) rs756330976 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_173551.5(ANKS6):c.1947C>T (p.His649=) rs372845968 0.00005
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) rs748439897 0.00005
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00005
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe) rs144691725 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln) rs371557531 0.00005
NM_176824.3(BBS7):c.1511+9A>G rs192602290 0.00005
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) rs745852520 0.00005
NM_181486.4(TBX5):c.*1071C>T rs890525823 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_182643.3(DLC1):c.857A>G (p.Asn286Ser) rs374190119 0.00005
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys) rs772622270 0.00005
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg) rs769420760 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198334.3(GANAB):c.2334C>A (p.Asp778Glu) rs937056702 0.00005
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) rs781476538 0.00005
NM_198428.3(BBS9):c.270C>T (p.Thr90=) rs747398844 0.00005
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met) rs372660203 0.00005
NM_198578.4(LRRK2):c.1874A>G (p.His625Arg) rs200787476 0.00005
NM_199355.4(ADAMTS18):c.1985C>G (p.Pro662Arg) rs747420099 0.00005
NM_201384.3(PLEC):c.8630C>T (p.Thr2877Met) rs201565643 0.00005
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) rs184351619 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.381G>C (p.Met127Ile) rs61752350 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207361.6(FREM2):c.2093G>A (p.Arg698His) rs201217034 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala) rs186980482 0.00005
NM_212482.4(FN1):c.1053C>T (p.Tyr351=) rs202133752 0.00005
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala) rs752617883 0.00005
NM_212482.4(FN1):c.4626G>A (p.Pro1542=) rs142628915 0.00005
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) rs376754454 0.00005
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157 0.00004
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200 0.00004
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5868C>T (p.Leu1956=) rs540054724 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000064.4(C3):c.1274G>T (p.Arg425Leu) rs201714568 0.00004
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 0.00004
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000064.4(C3):c.944G>A (p.Arg315Gln) rs761503659 0.00004
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.349A>C (p.Asn117His) rs1011699008 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) rs757343183 0.00004
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys) rs779196821 0.00004
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) rs370019965 0.00004
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) rs777305169 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) rs730880062 0.00004
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln) rs778497667 0.00004
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.1115-12A>G rs761088575 0.00004
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His) rs772164474 0.00004
NM_000091.5(COL4A3):c.3211-13G>C rs200555661 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) rs764046610 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.988-6C>T rs762463604 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388 0.00004
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=) rs773270107 0.00004
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472 0.00004
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=) rs780182097 0.00004
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=) rs559743197 0.00004
NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu) rs189847470 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg) rs377233046 0.00004
NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=) rs375911030 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His) rs753761607 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln) rs373745858 0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys) rs765130674 0.00004
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 0.00004
NM_000098.3(CPT2):c.379G>A (p.Val127Ile) rs199545795 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu) rs769402060 0.00004
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg) rs753847648 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479 0.00004
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000133.4(F9):c.658T>A (p.Ser220Thr) rs777361659 0.00004
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) rs950623649 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile) rs140503215 0.00004
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr) rs955639059 0.00004
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser) rs145464311 0.00004
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys) rs763485521 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His) rs749196340 0.00004
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln) rs774798866 0.00004
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val) rs766850261 0.00004
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr) rs765878996 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr) rs775206410 0.00004
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_000143.4(FH):c.556-4A>G rs370229813 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567 0.00004
NM_000151.4(G6PC1):c.804C>T (p.Leu268=) rs377077333 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2307G>A (p.Pro769=) rs766163765 0.00004
NM_000168.6(GLI3):c.2706C>T (p.Ala902=) rs779103816 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) rs748031460 0.00004
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000170.3(GLDC):c.869C>T (p.Ala290Val) rs534936420 0.00004
NM_000179.3(MSH6):c.3557-17A>T rs542542093 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000187.4(HGD):c.1027A>C (p.Met343Leu) rs755078457 0.00004
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000187.4(HGD):c.359G>T (p.Cys120Phe) rs752153829 0.00004
NM_000187.4(HGD):c.6T>A (p.Ala2=) rs1308413187 0.00004
NM_000187.4(HGD):c.807C>T (p.His269=) rs758567130 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000195.5(HPS1):c.1164C>T (p.Ser388=) rs747305546 0.00004
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) rs990213443 0.00004
NM_000195.5(HPS1):c.1532+14G>A rs761708348 0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 0.00004
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser) rs778456920 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_000211.5(ITGB2):c.57C>T (p.Cys19=) rs533892661 0.00004
NM_000213.5(ITGB4):c.2962+14G>A rs369351466 0.00004
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) rs750423295 0.00004
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His) rs147026529 0.00004
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=) rs368991974 0.00004
NM_000214.3(JAG1):c.1349-7T>A rs554200350 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met) rs373260040 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_000216.4(ANOS1):c.1932G>A (p.Pro644=) rs199652310 0.00004
NM_000216.4(ANOS1):c.723C>A (p.Ala241=) rs756066919 0.00004
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr) rs753256800 0.00004
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser) rs199472811 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 0.00004
NM_000222.3(KIT):c.840G>C (p.Ala280=) rs142772432 0.00004
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) rs199946321 0.00004
NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg) rs772313264 0.00004
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055 0.00004
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050 0.00004
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser) rs374836520 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000237.3(LPL):c.1338T>C (p.Ser446=) rs146509813 0.00004
NM_000237.3(LPL):c.373G>A (p.Ala125Thr) rs199675233 0.00004
NM_000238.4(KCNH2):c.-207C>T rs886062091 0.00004
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) rs757491162 0.00004
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000238.4(KCNH2):c.1945+18C>T rs778276270 0.00004
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His) rs774216337 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn) rs199473540 0.00004
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=) rs780481239 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter) rs374990260 0.00004
NM_000239.3(LYZ):c.434G>A (p.Gly145Asp) rs762616173 0.00004
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp) rs104895116 0.00004
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala) rs749651486 0.00004
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly) rs748891586 0.00004
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu) rs202174893 0.00004
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys) rs151306047 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser) rs146862274 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro) rs587779962 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.756C>T (p.His252=) rs376716145 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met) rs374946555 0.00004
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His) rs727503179 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val) rs779884363 0.00004
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr) rs397516026 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) rs730880617 0.00004
NM_000256.3(MYBPC3):c.630C>T (p.His210=) rs762695516 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp) rs747198710 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu) rs767000995 0.00004
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) rs730880808 0.00004
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr) rs145822086 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.924C>T (p.Tyr308=) rs762065412 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000278.5(PAX2):c.584G>A (p.Arg195His) rs201880460 0.00004
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) rs148402788 0.00004
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp) rs564505637 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000285.4(PEPD):c.550C>T (p.Arg184Ter) rs375391662 0.00004
NM_000285.4(PEPD):c.859G>A (p.Asp287Asn) rs201584435 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00004
NM_000295.5(SERPINA1):c.113C>T (p.Ser38Phe) rs745463238 0.00004
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln) rs569788968 0.00004
NM_000297.4(PKD2):c.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) rs369263247 0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met) rs145447578 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) rs371629121 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000311.5(PRNP):c.159C>T (p.Gly53=) rs776188950 0.00004
NM_000312.4(PROC):c.534A>G (p.Ala178=) rs368367611 0.00004
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724 0.00004
NM_000316.3(PTH1R):c.1753C>G (p.Leu585Val) rs201474414 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp) rs768691853 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) rs745885983 0.00004
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000337.6(SGCD):c.*7566C>T rs913397406 0.00004
NM_000337.6(SGCD):c.*906C>T rs886060292 0.00004
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 0.00004
NM_000338.3(SLC12A1):c.1561-8T>G rs778539276 0.00004
NM_000338.3(SLC12A1):c.1786+18C>T rs750119347 0.00004
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) rs375157909 0.00004
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe) rs752324675 0.00004
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser) rs145003411 0.00004
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=) rs376830687 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala) rs781253461 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp) rs33948878 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_000349.3(STAR):c.64+7G>C rs769781083 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) rs759799179 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000359.3(TGM1):c.418A>G (p.Ile140Val) rs149923908 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000361.3(THBD):c.277C>A (p.Pro93Thr) rs754342536 0.00004
NM_000361.3(THBD):c.289G>A (p.Gly97Ser) rs1239586434 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) rs772337076 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000376.3(VDR):c.14C>T (p.Ala5Val) rs368441608 0.00004
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.1970C>T (p.Ala657Val) rs143481133 0.00004
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) rs72549367 0.00004
NM_000379.4(XDH):c.2773G>A (p.Glu925Lys) rs755782316 0.00004
NM_000379.4(XDH):c.2828G>A (p.Arg943Gln) rs138396004 0.00004
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser) rs370788512 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_000380.4(XPA):c.571C>G (p.Leu191Val) rs562768588 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr) rs753767897 0.00004
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr) rs376825639 0.00004
NM_000384.3(APOB):c.11319G>A (p.Lys3773=) rs780811733 0.00004
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu) rs776119459 0.00004
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu) rs770531319 0.00004
NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp) rs200222843 0.00004
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp) rs756476242 0.00004
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile) rs370180297 0.00004
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710 0.00004
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys) rs140101603 0.00004
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys) rs766573431 0.00004
NM_000384.3(APOB):c.1951G>C (p.Ala651Pro) rs377179209 0.00004
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser) rs761947252 0.00004
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg) rs72653074 0.00004
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu) rs200708197 0.00004
NM_000384.3(APOB):c.4441G>A (p.Val1481Ile) rs748985164 0.00004
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val) rs200339216 0.00004
NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe) rs140027955 0.00004
NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr) rs200367807 0.00004
NM_000387.6(SLC25A20):c.-80G>C rs551279923 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg) rs138663047 0.00004
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn) rs201772791 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_000428.3(LTBP2):c.4620C>T (p.Gly1540=) rs147213897 0.00004
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser) rs140360173 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) rs730880945 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) rs770874403 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000452.3(SLC10A2):c.389C>T (p.Thr130Ile) rs201341384 0.00004
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000465.4(BARD1):c.692C>T (p.Ser231Phe) rs758140052 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000485.3(APRT):c.175G>A (p.Asp59Asn) rs768268700 0.00004
NM_000485.3(APRT):c.459C>T (p.Cys153=) rs375131814 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln) rs201541724 0.00004
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg) rs778341415 0.00004
NM_000490.5(AVP):c.54C>T (p.Ser18=) rs769495733 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) rs576292844 0.00004
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) rs779461311 0.00004
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) rs772530391 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp) rs148659506 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys) rs1463986346 0.00004
NM_000498.3(CYP11B2):c.72G>A (p.Leu24=) rs768219160 0.00004
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) rs141645920 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) rs1208417750 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000537.4(REN):c.718G>A (p.Gly240Arg) rs776733175 0.00004
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met) rs371839408 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His) rs145026307 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys) rs755088027 0.00004
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met) rs765758001 0.00004
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser) rs769120898 0.00004
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) rs750757411 0.00004
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr) rs761125496 0.00004
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr) rs959143903 0.00004
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser) rs781766697 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val) rs143988412 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr) rs552148844 0.00004
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val) rs757908433 0.00004
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala) rs763679528 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys) rs750233243 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His) rs545579559 0.00004
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile) rs749283427 0.00004
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val) rs752075589 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys) rs543630280 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser) rs202225176 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn) rs772695891 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln) rs144526634 0.00004
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys) rs751622747 0.00004
NM_000540.3(RYR1):c.872C>T (p.Ala291Val) rs200572262 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000548.5(TSC2):c.2967-6C>T rs200746335 0.00004
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=) rs373950550 0.00004
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159 0.00004
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622 0.00004
NM_000548.5(TSC2):c.585C>T (p.Ile195=) rs397515309 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000553.6(WRN):c.1388A>G (p.Tyr463Cys) rs1339450958 0.00004
NM_000553.6(WRN):c.2263G>A (p.Val755Ile) rs769448856 0.00004
NM_000553.6(WRN):c.3284C>T (p.Pro1095Leu) rs746470648 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000553.6(WRN):c.674G>A (p.Arg225Gln) rs62506077 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000587.4(C7):c.1244A>G (p.Gln415Arg) rs370190257 0.00004
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404 0.00004
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) rs779468425 0.00004
NM_000642.3(AGL):c.325G>T (p.Val109Leu) rs369068676 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000718.4(CACNA1B):c.3673A>G (p.Ile1225Val) rs200164302 0.00004
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=) rs376345869 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met) rs772235214 0.00004
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=) rs199629800 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=) rs371931644 0.00004
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) rs552478740 0.00004
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575 0.00004
NM_000742.4(CHRNA2):c.869C>T (p.Pro290Leu) rs767619637 0.00004
NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu) rs779043334 0.00004
NM_000781.3(CYP11A1):c.829+3G>C rs369873220 0.00004
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) rs372223837 0.00004
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) rs535463729 0.00004
NM_000789.4(ACE):c.1227T>C (p.Arg409=) rs373568007 0.00004
NM_000890.5(KCNJ5):c.-285G>C rs886048006 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) rs138893620 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_001003841.3(SLC6A19):c.1284G>C (p.Gly428=) rs750242948 0.00004
NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=) rs748088574 0.00004
NM_001003841.3(SLC6A19):c.1701+18C>T rs112626901 0.00004
NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln) rs369605197 0.00004
NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly) rs140812221 0.00004
NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His) rs143274116 0.00004
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) rs121434347 0.00004
NM_001003841.3(SLC6A19):c.887+9G>A rs762018842 0.00004
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln) rs372263407 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001018005.1(TPM1):c.-114G>A rs886051319 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 0.00004
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) rs1479681259 0.00004
NM_001018115.3(FANCD2):c.3106-13T>G rs759732362 0.00004
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His) rs781701459 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=) rs149152786 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 0.00004
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470 0.00004
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) rs758453646 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln) rs903232857 0.00004
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala) rs1057512489 0.00004
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) rs372569289 0.00004
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala) rs1005458283 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001040108.2(MLH3):c.2000G>C (p.Gly667Ala) rs200093225 0.00004
NM_001040151.2(SCN3B):c.106G>A (p.Val36Met) rs147803210 0.00004
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly) rs587777555 0.00004
NM_001040151.2(SCN3B):c.199G>A (p.Glu67Lys) rs140381249 0.00004
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00004
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met) rs140041927 0.00004
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001040716.2(PC):c.561C>T (p.Tyr187=) rs145333590 0.00004
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.1943G>A (p.Arg648Lys) rs375458342 0.00004
NM_001041.4(SI):c.2159+11C>T rs761959886 0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met) rs369115304 0.00004
NM_001041.4(SI):c.3955G>A (p.Val1319Ile) rs376972966 0.00004
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile) rs376437234 0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys) rs767701775 0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr) rs369134336 0.00004
NM_001041.4(SI):c.695G>A (p.Arg232His) rs747345955 0.00004
NM_001042413.2(GLIS3):c.1310C>T (p.Pro437Leu) rs745511715 0.00004
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=) rs370278575 0.00004
NM_001042413.2(GLIS3):c.2107C>T (p.Pro703Ser) rs200705602 0.00004
NM_001042475.3(CEP85L):c.1020+5558G>A rs886061004 0.00004
NM_001042475.3(CEP85L):c.1020+6172T>C rs768837853 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.2592C>T (p.Ser864=) rs761499485 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3708+11A>C rs373751277 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.4835+13A>G rs1034258238 0.00004
NM_001042492.3(NF1):c.4835+14T>C rs758851307 0.00004
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=) rs373685150 0.00004
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=) rs375776474 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=) rs371578074 0.00004
NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) rs369221693 0.00004
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu) rs201448287 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) rs770749420 0.00004
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028 0.00004
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=) rs374582626 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=) rs759380913 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_001101.5(ACTB):c.180C>T (p.Ser60=) rs147566416 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu) rs370194991 0.00004
NM_001105206.3(LAMA4):c.1769C>G (p.Ala590Gly) rs782394010 0.00004
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg) rs377499201 0.00004
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser) rs140710429 0.00004
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met) rs782325644 0.00004
NM_001105206.3(LAMA4):c.4346G>A (p.Arg1449Gln) rs782695193 0.00004
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu) rs782716382 0.00004
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met) rs369332778 0.00004
NM_001105206.3(LAMA4):c.967-16A>G rs80110492 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001113378.2(FANCI):c.157+7A>G rs145165730 0.00004
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) rs147963936 0.00004
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) rs866290050 0.00004
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) rs374176569 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) rs896475967 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001126049.2(KLLN):c.-1039G>A rs587779999 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) rs748652939 0.00004
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) rs752124879 0.00004
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) rs56259558 0.00004
NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu) rs141867836 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001127198.5(TMC6):c.1175C>T (p.Thr392Met) rs765228601 0.00004
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala) rs1192195663 0.00004
NM_001127511.3(APC):c.-167G>A rs1278244063 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp) rs886044045 0.00004
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg) rs773604700 0.00004
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) rs370786558 0.00004
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu) rs764931697 0.00004
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp) rs762486621 0.00004
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His) rs779159879 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met) rs372952394 0.00004
NM_001134363.3(RBM20):c.*1619A>G rs927932901 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His) rs762725902 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg) rs867232627 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001136193.2(FASTKD2):c.1979G>A (p.Arg660Gln) rs780581465 0.00004
NM_001136193.2(FASTKD2):c.2071A>C (p.Thr691Pro) rs781656176 0.00004
NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys) rs750930063 0.00004
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala) rs754245105 0.00004
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr) rs1486743340 0.00004
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys) rs369347845 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) rs528733427 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe) rs985211023 0.00004
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val) rs374200609 0.00004
NM_001144967.3(NEDD4L):c.1691C>A (p.Thr564Lys) rs769198983 0.00004
NM_001144967.3(NEDD4L):c.2186-10C>T rs764821969 0.00004
NM_001144967.3(NEDD4L):c.2273A>G (p.Asn758Ser) rs202127939 0.00004
NM_001144967.3(NEDD4L):c.2475C>T (p.Asn825=) rs368300968 0.00004
NM_001144967.3(NEDD4L):c.871C>G (p.Leu291Val) rs773477776 0.00004
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met) rs370472530 0.00004
NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr) rs148654834 0.00004
NM_001148.6(ANK2):c.1993C>T (p.Pro665Ser) rs758281393 0.00004
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) rs375594801 0.00004
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) rs369038140 0.00004
NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile) rs765274871 0.00004
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001148.6(ANK2):c.7149G>A (p.Pro2383=) rs200877971 0.00004
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys) rs562115547 0.00004
NM_001148.6(ANK2):c.80A>C (p.Lys27Thr) rs769843073 0.00004
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn) rs374145576 0.00004
NM_001148.6(ANK2):c.9915T>G (p.Pro3305=) rs753252376 0.00004
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001159702.3(FHL1):c.-101+3A>G rs895540444 0.00004
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu) rs563536889 0.00004
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=) rs377023001 0.00004
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.1780-11G>A rs532189625 0.00004
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) rs1021031399 0.00004
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) rs756768329 0.00004
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) rs780276741 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) rs147794514 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) rs371122482 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) rs531418668 0.00004
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) rs57288618 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=) rs138385790 0.00004
NM_001174147.2(LMX1B):c.349G>A (p.Gly117Ser) rs773332016 0.00004
NM_001174147.2(LMX1B):c.463G>A (p.Glu155Lys) rs776839118 0.00004
NM_001174150.2(ARL13B):c.506C>T (p.Ser169Leu) rs376359647 0.00004
NM_001177316.2(SLC34A3):c.1444G>A (p.Ala482Thr) rs757308975 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.328A>G (p.Lys110Glu) rs570711066 0.00004
NM_001177316.2(SLC34A3):c.605C>T (p.Thr202Ile) rs868077426 0.00004
NM_001177316.2(SLC34A3):c.757-16C>T rs372713559 0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001191061.2(SLC25A22):c.553G>A (p.Gly185Ser) rs761249044 0.00004
NM_001195305.3(BBIP1):c.142A>G (p.Met48Val) rs565980586 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199138.2(NLRC4):c.240A>G (p.Leu80=) rs752238600 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001202.6(BMP4):c.252G>A (p.Arg84=) rs781435238 0.00004
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln) rs370847935 0.00004
NM_001204.7(BMPR2):c.*2491T>C rs773528113 0.00004
NM_001204.7(BMPR2):c.1516A>G (p.Met506Val) rs370457339 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr) rs150057448 0.00004
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) rs994458759 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) rs560149696 0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=) rs371203997 0.00004
NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His) rs369839651 0.00004
NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr) rs773017134 0.00004
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) rs755986938 0.00004
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp) rs879243057 0.00004
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) rs886042785 0.00004
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys) rs370649675 0.00004
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val) rs751755895 0.00004
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val) rs879242937 0.00004
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr) rs727504442 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.16517C>T (p.Ser5506Phe) rs201125295 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr) rs879197315 0.00004
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His) rs760305440 0.00004
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala) rs778063825 0.00004
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn) rs746722623 0.00004
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) rs767155246 0.00004
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu) rs781655223 0.00004
NM_001267550.2(TTN):c.33419-9T>C rs1030703466 0.00004
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile) rs369025108 0.00004
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser) rs757781411 0.00004
NM_001267550.2(TTN):c.39818-9T>C rs368834130 0.00004
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln) rs727504774 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr) rs751017081 0.00004
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His) rs375574483 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=) rs747557917 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly) rs201001270 0.00004
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu) rs370583314 0.00004
NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu) rs794727388 0.00004
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) rs368419410 0.00004
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00004
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg) rs201430346 0.00004
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr) rs746014701 0.00004
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His) rs753167856 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.61826G>A (p.Arg20609His) rs372546292 0.00004
NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn) rs1177521349 0.00004
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys) rs878916429 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=) rs762414876 0.00004
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) rs777095470 0.00004
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala) rs878968094 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr) rs772411127 0.00004
NM_001267550.2(TTN):c.6489C>T (p.His2163=) rs762045402 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.656C>T (p.Thr219Ile) rs926062512 0.00004
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) rs768057735 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68791A>C (p.Ser22931Arg) rs794729484 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile) rs768476881 0.00004
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His) rs761823581 0.00004
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn) rs1001852514 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) rs781076407 0.00004
NM_001267550.2(TTN):c.8051A>G (p.Asp2684Gly) rs1008197005 0.00004
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg) rs878898668 0.00004
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln) rs1246168127 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00004
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu) rs375549179 0.00004
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met) rs768545532 0.00004
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862 0.00004
NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile) rs794727453 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=) rs368525666 0.00004
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104 0.00004
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys) rs372303620 0.00004
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln) rs770081431 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp) rs754125601 0.00004
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr) rs368427408 0.00004
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) rs534881266 0.00004
NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro) rs773083742 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala) rs1014216424 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr) rs879116103 0.00004
NM_001270508.2(TNFAIP3):c.1182C>A (p.Phe394Leu) rs762710607 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_001276345.2(TNNT2):c.810+5G>A rs730881113 0.00004
NM_001277115.2(DNAH11):c.10274C>A (p.Thr3425Lys) rs367800491 0.00004
NM_001277115.2(DNAH11):c.10398C>T (p.Ala3466=) rs748648201 0.00004
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His) rs775606157 0.00004
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001277115.2(DNAH11):c.8552C>G (p.Ala2851Gly) rs766265779 0.00004
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001282225.2(ADA2):c.72C>T (p.Phe24=) rs374752508 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00004
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His) rs775259637 0.00004
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) rs539988285 0.00004
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met) rs149787198 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) rs1256600488 0.00004
NM_001291303.3(FAT4):c.4081G>A (p.Gly1361Arg) rs200361960 0.00004
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=) rs781105490 0.00004
NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly) rs763663979 0.00004
NM_001292034.3(TAB2):c.21A>G (p.Gln7=) rs553008331 0.00004
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001303.4(COX10):c.1070C>T (p.Ala357Val) rs148783821 0.00004
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys) rs774861372 0.00004
NM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly) rs190743128 0.00004
NM_001349206.2(LPIN1):c.723-2A>C rs368632476 0.00004
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) rs746550786 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_001361.5(DHODH):c.104G>A (p.Arg35His) rs199675109 0.00004
NM_001363118.2(SLC52A2):c.556G>A (p.Asp186Asn) rs782269382 0.00004
NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His) rs201135069 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly) rs538370042 0.00004
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920 0.00004
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) rs137956992 0.00004
NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) rs201099906 0.00004
NM_001365999.1(SZT2):c.9880C>T (p.Arg3294Trp) rs199787819 0.00004
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys) rs369459316 0.00004
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367823.1(ARHGEF18):c.1537C>T (p.Arg513Cys) rs140149608 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu) rs758395320 0.00004
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=) rs181510043 0.00004
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met) rs757109346 0.00004
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr) rs201417702 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001371986.1(UNC80):c.298+2T>C rs143612678 0.00004
NM_001371986.1(UNC80):c.6428T>C (p.Met2143Thr) rs751559981 0.00004
NM_001371986.1(UNC80):c.9867T>A (p.His3289Gln) rs201312129 0.00004
NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=) rs377032791 0.00004
NM_001372066.1(TFAP2A):c.539-19C>T rs375564449 0.00004
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val) rs781705610 0.00004
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11547+16T>C rs373935106 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11669-17A>G rs762591261 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) rs201777220 0.00004
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=) rs571782143 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1432+15G>A rs376610564 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546 0.00004
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu) rs190445250 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile) rs766878343 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) rs376728796 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu) rs370014549 0.00004
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) rs151164490 0.00004
NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn) rs749580522 0.00004
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=) rs202213402 0.00004
NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val) rs577186728 0.00004
NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys) rs754692429 0.00004
NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn) rs183882265 0.00004
NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu) rs771531342 0.00004
NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly) rs377200008 0.00004
NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly) rs372770176 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001379286.1(ZNF423):c.40+33082T>A rs556089941 0.00004
NM_001379286.1(ZNF423):c.785C>T (p.Ser262Leu) rs773775408 0.00004
NM_001379451.1(BCORL1):c.985G>C (p.Val329Leu) rs373673739 0.00004
NM_001379500.1(COL18A1):c.1058G>A (p.Arg353Gln) rs373030953 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384474.1(LOXHD1):c.1432-9T>C rs1197933940 0.00004
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953 0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met) rs113591161 0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338 0.00004
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp) rs199838861 0.00004
NM_001384479.1(AGT):c.13G>A (p.Gly5Ser) rs377164467 0.00004
NM_001384479.1(AGT):c.264C>T (p.Thr88=) rs11557884 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His) rs199749415 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala) rs763642816 0.00004
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) rs149685637 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) rs1424442518 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) rs772082205 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) rs369361493 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7589-12A>C rs767934439 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys) rs1454812528 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) rs767695592 0.00004
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) rs143453963 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386393.1(PANK2):c.291G>A (p.Lys97=) rs764439399 0.00004
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His) rs111587625 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001395656.1(ROBO2):c.171G>T (p.Arg57=) rs752240818 0.00004
NM_001395656.1(ROBO2):c.1861+15T>C rs770007839 0.00004
NM_001395656.1(ROBO2):c.1930C>T (p.Arg644Cys) rs763833545 0.00004
NM_001395656.1(ROBO2):c.2738+9C>T rs573265362 0.00004
NM_001395656.1(ROBO2):c.4293T>G (p.Ser1431=) rs758687620 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001458.5(FLNC):c.1082G>A (p.Arg361His) rs752888774 0.00004
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) rs371913931 0.00004
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp) rs759075520 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.2519G>A (p.Arg840His) rs376472014 0.00004
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys) rs774707336 0.00004
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) rs768103657 0.00004
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp) rs555764780 0.00004
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00004
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His) rs370520806 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=) rs547733871 0.00004
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His) rs780685346 0.00004
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu) rs1318316375 0.00004
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys) rs781212262 0.00004
NM_001481.3(GAS8):c.900C>T (p.Tyr300=) rs140624161 0.00004
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001482.3(GATM):c.979-19G>T rs575171738 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) rs374629804 0.00004
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser) rs150022323 0.00004
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) rs146436811 0.00004
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_001680.5(FXYD2):c.90C>T (p.Gly30=) rs373687268 0.00004
NM_001692.4(ATP6V1B1):c.1121A>G (p.Asp374Gly) rs1329865941 0.00004
NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys) rs377624239 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001735.3(C5):c.116T>C (p.Ile39Thr) rs1228951703 0.00004
NM_001735.3(C5):c.1816G>A (p.Asp606Asn) rs775286780 0.00004
NM_001735.3(C5):c.3277G>A (p.Val1093Ile) rs371131390 0.00004
NM_001735.3(C5):c.441G>A (p.Ser147=) rs376535022 0.00004
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_001750.7(CAST):c.1441G>A (p.Ala481Thr) rs546937644 0.00004
NM_001753.5(CAV1):c.512G>A (p.Arg171His) rs772468332 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) rs367858076 0.00004
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) rs761118786 0.00004
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) rs939449148 0.00004
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys) rs570739274 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 0.00004
NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser) rs767106237 0.00004
NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu) rs201337557 0.00004
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001903.5(CTNNA1):c.637A>G (p.Ile213Val) rs201391408 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=) rs2292764 0.00004
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) rs369702571 0.00004
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) rs759896124 0.00004
NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer) rs771955031 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002067.5(GNA11):c.889+4C>T rs375701661 0.00004
NM_002067.5(GNA11):c.912G>A (p.Ala304=) rs145170690 0.00004
NM_002067.5(GNA11):c.915G>A (p.Ala305=) rs750757769 0.00004
NM_002076.4(GNS):c.415A>G (p.Met139Val) rs142588770 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002204.4(ITGA3):c.2233G>A (p.Asp745Asn) rs369201492 0.00004
NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter) rs200810866 0.00004
NM_002204.4(ITGA3):c.607G>A (p.Gly203Ser) rs201830820 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002234.4(KCNA5):c.1660C>T (p.Arg554Trp) rs150208806 0.00004
NM_002234.4(KCNA5):c.1789C>T (p.Arg597Trp) rs759691488 0.00004
NM_002234.4(KCNA5):c.347C>T (p.Ser116Phe) rs962908688 0.00004
NM_002234.4(KCNA5):c.551G>A (p.Arg184His) rs375080039 0.00004
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) rs766560083 0.00004
NM_002246.3(KCNK3):c.1094G>A (p.Gly365Glu) rs748278164 0.00004
NM_002246.3(KCNK3):c.309G>T (p.Thr103=) rs199957242 0.00004
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser) rs376294474 0.00004
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) rs764346736 0.00004
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys) rs748798004 0.00004
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys) rs200658738 0.00004
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) rs753249251 0.00004
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr) rs141062242 0.00004
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val) rs771785818 0.00004
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=) rs754393937 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002317.7(LOX):c.493G>C (p.Gly165Arg) rs749364042 0.00004
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1563C>T (p.Asp521=) rs750457614 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.249C>T (p.Ser83=) rs375802434 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=) rs146792434 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=) rs147175387 0.00004
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=) rs144115017 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002335.4(LRP5):c.489-7G>A rs560234502 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002335.4(LRP5):c.924C>T (p.His308=) rs756215440 0.00004
NM_002354.3(EPCAM):c.342C>T (p.Ser114=) rs200495968 0.00004
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 0.00004
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr) rs556536964 0.00004
NM_002471.4(MYH6):c.1639A>G (p.Met547Val) rs760722098 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
NM_002471.4(MYH6):c.268A>G (p.Met90Val) rs778199745 0.00004
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) rs756244326 0.00004
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr) rs762901493 0.00004
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 0.00004
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) rs765103086 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.4525+3G>A rs750348638 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 0.00004
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu) rs747673552 0.00004
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys) rs756369181 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser) rs906679954 0.00004
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val) rs371205331 0.00004
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp) rs142227497 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser) rs149964928 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln) rs201542440 0.00004
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys) rs780520468 0.00004
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) rs145081333 0.00004
NM_002661.5(PLCG2):c.1073-17C>T rs572040225 0.00004
NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn) rs752906992 0.00004
NM_002661.5(PLCG2):c.1558-4C>A rs1325379831 0.00004
NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly) rs201391996 0.00004
NM_002661.5(PLCG2):c.183C>T (p.Ile61=) rs553657822 0.00004
NM_002661.5(PLCG2):c.2055-20C>A rs563045009 0.00004
NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu) rs761399374 0.00004
NM_002661.5(PLCG2):c.2301G>A (p.Pro767=) rs374390386 0.00004
NM_002661.5(PLCG2):c.2307+4C>T rs745912221 0.00004
NM_002661.5(PLCG2):c.2496C>T (p.Phe832=) rs766166854 0.00004
NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile) rs370187601 0.00004
NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp) rs771322094 0.00004
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser) rs372606303 0.00004
NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=) rs746749620 0.00004
NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=) rs187113357 0.00004
NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys) rs758825034 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg) rs368738612 0.00004
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_002691.4(POLD1):c.1363G>A (p.Val455Met) rs762670703 0.00004
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) rs763465385 0.00004
NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) rs148838746 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002734.5(PRKAR1A):c.549+20A>G rs981055703 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.793G>A (p.Gly265Arg) rs140285068 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu) rs200085962 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.1587-15T>A rs762259659 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr) rs371214327 0.00004
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=) rs368250779 0.00004
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys) rs567451585 0.00004
NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln) rs752729935 0.00004
NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) rs200755101 0.00004
NM_003098.3(SNTA1):c.992G>A (p.Arg331His) rs575431717 0.00004
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) rs138310236 0.00004
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg) rs749692412 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) rs1018415204 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala) rs1050833 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln) rs200361387 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003356.4(UCP3):c.386T>C (p.Met129Thr) rs1047063799 0.00004
NM_003361.4(UMOD):c.1362C>A (p.Gly454=) rs770875763 0.00004
NM_003361.4(UMOD):c.685A>T (p.Met229Leu) rs756226236 0.00004
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr) rs147199402 0.00004
NM_003392.7(WNT5A):c.6+18T>A rs192224802 0.00004
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) rs201214593 0.00004
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=) rs562830182 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys) rs794727574 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys) rs767260174 0.00004
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His) rs372511574 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003640.5(ELP1):c.1536C>T (p.Asp512=) rs751808911 0.00004
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln) rs369627815 0.00004
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122 0.00004
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) rs146338880 0.00004
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.2861-12T>G rs746590157 0.00004
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377 0.00004
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) rs746303238 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003640.5(ELP1):c.3932-18T>G rs767184876 0.00004
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_003640.5(ELP1):c.865-9C>T rs748084965 0.00004
NM_003640.5(ELP1):c.958+20C>T rs370413742 0.00004
NM_003661.4(APOL1):c.837T>C (p.Ile279=) rs371302335 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_003835.4(RGS9):c.136G>A (p.Val46Ile) rs577500360 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_003906.5(MCM3AP):c.5373G>A (p.Ser1791=) rs549733036 0.00004
NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser) rs758129111 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003921.5(BCL10):c.694C>T (p.Arg232Ter) rs376302558 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln) rs368317701 0.00004
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=) rs773097626 0.00004
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val) rs141632828 0.00004
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=) rs143853134 0.00004
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe) rs371860097 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=) rs750720946 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004006.3(DMD):c.1534C>T (p.His512Tyr) rs147136371 0.00004
NM_004006.3(DMD):c.1742C>T (p.Ala581Val) rs763155705 0.00004
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser) rs150692967 0.00004
NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg) rs146880270 0.00004
NM_004069.6(AP2S1):c.111C>T (p.Ala37=) rs368988346 0.00004
NM_004069.6(AP2S1):c.153+5C>T rs747850028 0.00004
NM_004069.6(AP2S1):c.387G>A (p.Thr129=) rs762267195 0.00004
NM_004100.5(EYA4):c.*2049T>C rs752513150 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004104.5(FASN):c.2539G>A (p.Ala847Thr) rs762057164 0.00004
NM_004104.5(FASN):c.836C>T (p.Ser279Leu) rs377076774 0.00004
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) rs765180271 0.00004
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) rs141493530 0.00004
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) rs757176672 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102 0.00004
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004252.5(NHERF1):c.252C>T (p.Asn84=) rs781350887 0.00004
NM_004252.5(NHERF1):c.469A>C (p.Met157Leu) rs967768641 0.00004
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln) rs774137001 0.00004
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn) rs754387872 0.00004
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004304.5(ALK):c.3251G>A (p.Arg1084His) rs760151617 0.00004
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr) rs376702277 0.00004
NM_004304.5(ALK):c.503T>C (p.Phe168Ser) rs755498584 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004357.5(CD151):c.276+11C>T rs770882120 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln) rs780348130 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_004366.6(CLCN2):c.2143+8C>T rs752854427 0.00004
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His) rs199616806 0.00004
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile) rs759041100 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004385.5(VCAN):c.7626T>C (p.Asn2542=) rs751601623 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His) rs143396063 0.00004
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val) rs146096050 0.00004
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg) rs1204063782 0.00004
NM_004484.4(GPC3):c.648G>C (p.Met216Ile) rs752516966 0.00004
NM_004484.4(GPC3):c.972T>C (p.Phe324=) rs183678432 0.00004
NM_004525.3(LRP2):c.101G>A (p.Arg34His) rs186568676 0.00004
NM_004525.3(LRP2):c.10307A>T (p.Tyr3436Phe) rs201200378 0.00004
NM_004525.3(LRP2):c.10415A>G (p.Asn3472Ser) rs755241846 0.00004
NM_004525.3(LRP2):c.10559C>T (p.Ala3520Val) rs150113078 0.00004
NM_004525.3(LRP2):c.10572-13G>A rs372963344 0.00004
NM_004525.3(LRP2):c.10757G>A (p.Arg3586His) rs762352363 0.00004
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His) rs142884214 0.00004
NM_004525.3(LRP2):c.11498-15T>C rs534214309 0.00004
NM_004525.3(LRP2):c.11635+17C>T rs199625884 0.00004
NM_004525.3(LRP2):c.11850C>T (p.Ala3950=) rs765289317 0.00004
NM_004525.3(LRP2):c.12350G>A (p.Arg4117His) rs761475630 0.00004
NM_004525.3(LRP2):c.13268-14A>G rs199622240 0.00004
NM_004525.3(LRP2):c.13305C>T (p.Val4435=) rs375801132 0.00004
NM_004525.3(LRP2):c.13306G>A (p.Val4436Ile) rs750736741 0.00004
NM_004525.3(LRP2):c.1703C>T (p.Ser568Leu) rs141305635 0.00004
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp) rs368619363 0.00004
NM_004525.3(LRP2):c.2512G>A (p.Gly838Arg) rs374039326 0.00004
NM_004525.3(LRP2):c.2530G>A (p.Asp844Asn) rs1478550190 0.00004
NM_004525.3(LRP2):c.2930C>A (p.Pro977His) rs766831061 0.00004
NM_004525.3(LRP2):c.3312C>T (p.His1104=) rs188152163 0.00004
NM_004525.3(LRP2):c.3650C>T (p.Ser1217Leu) rs768863475 0.00004
NM_004525.3(LRP2):c.378G>A (p.Arg126=) rs753521481 0.00004
NM_004525.3(LRP2):c.3794C>T (p.Ala1265Val) rs750783356 0.00004
NM_004525.3(LRP2):c.478A>G (p.Thr160Ala) rs748258028 0.00004
NM_004525.3(LRP2):c.512G>C (p.Arg171Thr) rs184319574 0.00004
NM_004525.3(LRP2):c.6649C>T (p.Arg2217Cys) rs914080135 0.00004
NM_004525.3(LRP2):c.7006C>T (p.Arg2336Trp) rs149849411 0.00004
NM_004525.3(LRP2):c.8603A>C (p.Glu2868Ala) rs149252072 0.00004
NM_004525.3(LRP2):c.8846C>T (p.Ser2949Leu) rs200068217 0.00004
NM_004525.3(LRP2):c.9032+5A>G rs371476119 0.00004
NM_004525.3(LRP2):c.9265G>A (p.Glu3089Lys) rs745739674 0.00004
NM_004525.3(LRP2):c.9846A>G (p.Arg3282=) rs202135090 0.00004
NM_004525.3(LRP2):c.9895C>T (p.Leu3299Phe) rs143920714 0.00004
NM_004531.5(MOCS2):c.241A>T (p.Asn81Tyr) rs555716628 0.00004
NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg) rs776323741 0.00004
NM_004560.4(ROR2):c.1553G>A (p.Arg518Gln) rs373544528 0.00004
NM_004560.4(ROR2):c.1630A>G (p.Thr544Ala) rs374811924 0.00004
NM_004560.4(ROR2):c.1732G>A (p.Asp578Asn) rs139802697 0.00004
NM_004560.4(ROR2):c.175+3G>T rs557936422 0.00004
NM_004560.4(ROR2):c.1913G>A (p.Arg638Gln) rs765278167 0.00004
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) rs773389306 0.00004
NM_004560.4(ROR2):c.2724C>T (p.Thr908=) rs374824850 0.00004
NM_004560.4(ROR2):c.281G>A (p.Arg94Gln) rs367829411 0.00004
NM_004560.4(ROR2):c.888C>T (p.Asp296=) rs755825636 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter) rs746104381 0.00004
NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln) rs753389706 0.00004
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.430A>G (p.Thr144Ala) rs368098002 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004621.6(TRPC6):c.271C>T (p.Arg91Cys) rs200186406 0.00004
NM_004621.6(TRPC6):c.293A>T (p.Glu98Val) rs200369786 0.00004
NM_004621.6(TRPC6):c.375C>T (p.Asn125=) rs201643083 0.00004
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln) rs372854981 0.00004
NM_004629.2(FANCG):c.422G>A (p.Arg141His) rs775719850 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.1998G>T (p.Leu666=) rs569310327 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys) rs749846538 0.00004
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) rs368289818 0.00004
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser) rs547630327 0.00004
NM_004655.4(AXIN2):c.955G>A (p.Val319Ile) rs913060347 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) rs149338352 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_004836.7(EIF2AK3):c.2162C>A (p.Ser721Tyr) rs947040918 0.00004
NM_004836.7(EIF2AK3):c.2315A>T (p.Glu772Val) rs778904290 0.00004
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=) rs376595842 0.00004
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=) rs757760327 0.00004
NM_004836.7(EIF2AK3):c.959T>C (p.Met320Thr) rs1276515547 0.00004
NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=) rs372458891 0.00004
NM_004924.6(ACTN4):c.1750C>T (p.Arg584Cys) rs376144793 0.00004
NM_004924.6(ACTN4):c.1806C>T (p.His602=) rs749089376 0.00004
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=) rs375763862 0.00004
NM_004924.6(ACTN4):c.2671G>A (p.Ala891Thr) rs370231267 0.00004
NM_004924.6(ACTN4):c.932G>A (p.Arg311His) rs559700598 0.00004
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536 0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=) rs771450572 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004944.4(DNASE1L3):c.360T>C (p.His120=) rs146555960 0.00004
NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile) rs778387758 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_004998.4(MYO1E):c.1275+12C>G rs373603961 0.00004
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=) rs140388346 0.00004
NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp) rs763194287 0.00004
NM_004998.4(MYO1E):c.839C>T (p.Ala280Val) rs375751619 0.00004
NM_005045.4(RELN):c.1649G>T (p.Arg550Met) rs773589573 0.00004
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005159.5(ACTC1):c.*39C>T rs3729758 0.00004
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg) rs775151292 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005379.4(MYO1A):c.1678C>G (p.Pro560Ala) rs140586750 0.00004
NM_005413.4(SIX3):c.127G>T (p.Gly43Cys) rs1436891421 0.00004
NM_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 0.00004
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) rs765329541 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) rs376631391 0.00004
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe) rs1435000428 0.00004
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys) rs181894662 0.00004
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp) rs538668505 0.00004
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys) rs759356193 0.00004
NM_005506.4(SCARB2):c.1089T>C (p.His363=) rs753197792 0.00004
NM_005506.4(SCARB2):c.522C>T (p.Asp174=) rs375051752 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_005506.4(SCARB2):c.93G>A (p.Lys31=) rs558215488 0.00004
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_005687.5(FARSB):c.1618+17G>A rs369727146 0.00004
NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu) rs756173890 0.00004
NM_005732.4(RAD50):c.1457G>A (p.Arg486His) rs776949511 0.00004
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr) rs767035977 0.00004
NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg) rs374700234 0.00004
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val) rs750905383 0.00004
NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp) rs374309022 0.00004
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp) rs374280470 0.00004
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val) rs368183690 0.00004
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) rs772669837 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg) rs1000673132 0.00004
NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val) rs759694779 0.00004
NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu) rs779260877 0.00004
NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly) rs772348877 0.00004
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=) rs370202496 0.00004
NM_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile) rs372440430 0.00004
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_005989.4(AKR1D1):c.864del (p.Ser290fs) rs759908186 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) rs140407862 0.00004
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) rs773280611 0.00004
NM_006005.3(WFS1):c.1320C>T (p.Thr440=) rs762339922 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1929C>T (p.Ile643=) rs544473222 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=) rs375408391 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_006005.3(WFS1):c.2349C>T (p.Phe783=) rs759746525 0.00004
NM_006005.3(WFS1):c.2520C>T (p.Phe840=) rs777254962 0.00004
NM_006005.3(WFS1):c.2607C>T (p.Ser869=) rs1410561677 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys) rs1013511770 0.00004
NM_006030.4(CACNA2D2):c.553A>G (p.Ser185Gly) rs368540577 0.00004
NM_006031.6(PCNT):c.1457-5T>A rs769237607 0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262 0.00004
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) rs772104828 0.00004
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) rs769631321 0.00004
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr) rs969139366 0.00004
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser) rs150927351 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_006231.4(POLE):c.720+16T>C rs200320553 0.00004
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_006302.3(MOGS):c.476A>T (p.Gln159Leu) rs776263791 0.00004
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=) rs987053838 0.00004
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=) rs548976674 0.00004
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) rs17848858 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys) rs370603046 0.00004
NM_006514.4(SCN10A):c.1093-3C>A rs373289770 0.00004
NM_006514.4(SCN10A):c.299C>A (p.Thr100Asn) rs758035498 0.00004
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys) rs764476034 0.00004
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys) rs373347787 0.00004
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter) rs199503439 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg) rs769333887 0.00004
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=) rs146916680 0.00004
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=) rs769009513 0.00004
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=) rs146141702 0.00004
NM_006662.3(SRCAP):c.492+3A>G rs766539368 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=) rs778040460 0.00004
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) rs368889629 0.00004
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) rs530672259 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006915.3(RP2):c.286G>A (p.Val96Met) rs782229330 0.00004
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_007074.4(CORO1A):c.595C>T (p.Arg199Cys) rs763170903 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_007214.5(SEC63):c.453-11T>C rs374073392 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012120.3(CD2AP):c.1756C>T (p.Leu586Phe) rs368150114 0.00004
NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn) rs149246024 0.00004
NM_012120.3(CD2AP):c.730C>T (p.Pro244Ser) rs757507978 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys) rs140059042 0.00004
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val) rs764366522 0.00004
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe) rs747067557 0.00004
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln) rs781359060 0.00004
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=) rs201083322 0.00004
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr) rs539376933 0.00004
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln) rs758882829 0.00004
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp) rs752016708 0.00004
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu) rs377510422 0.00004
NM_012301.4(MAGI2):c.2012T>C (p.Ile671Thr) rs780041985 0.00004
NM_012301.4(MAGI2):c.817C>G (p.Pro273Ala) rs202222389 0.00004
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067 0.00004
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) rs546414937 0.00004
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) rs373711827 0.00004
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054 0.00004
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) rs143423970 0.00004
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) rs145267516 0.00004
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys) rs375514495 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) rs201528612 0.00004
NM_014000.3(VCL):c.1511T>C (p.Ile504Thr) rs745343813 0.00004
NM_014000.3(VCL):c.1928C>T (p.Thr643Met) rs150643310 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.2399A>T (p.Asp800Val) rs919509789 0.00004
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln) rs397517238 0.00004
NM_014009.4(FOXP3):c.1295G>A (p.Ter432=) rs782112916 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr) rs1424687079 0.00004
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) rs200928046 0.00004
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=) rs191438128 0.00004
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met) rs199876834 0.00004
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575 0.00004
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser) rs376295895 0.00004
NM_014140.4(SMARCAL1):c.599C>T (p.Ser200Leu) rs777896137 0.00004
NM_014140.4(SMARCAL1):c.732C>T (p.Asn244=) rs201962302 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014208.3(DSPP):c.981G>T (p.Glu327Asp) rs778282028 0.00004
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val) rs1057524401 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014317.5(PDSS1):c.955A>G (p.Met319Val) rs754654692 0.00004
NM_014317.5(PDSS1):c.987C>T (p.Leu329=) rs769755433 0.00004
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) rs745586461 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014425.5(INVS):c.1117G>A (p.Val373Met) rs759162487 0.00004
NM_014425.5(INVS):c.1336A>C (p.Lys446Gln) rs370549699 0.00004
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.286T>C (p.Phe96Leu) rs375188577 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) rs760029883 0.00004
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser) rs750512288 0.00004
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser) rs372414536 0.00004
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) rs758494719 0.00004
NM_014956.5(CEP164):c.1158G>A (p.Leu386=) rs199723361 0.00004
NM_014956.5(CEP164):c.1380G>A (p.Gln460=) rs559473249 0.00004
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.1860A>T (p.Gln620His) rs745707423 0.00004
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys) rs375310104 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.2379G>A (p.Gln793=) rs190692742 0.00004
NM_014956.5(CEP164):c.2517G>A (p.Lys839=) rs760170526 0.00004
NM_014956.5(CEP164):c.2853C>T (p.Thr951=) rs140641176 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=) rs368609037 0.00004
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys) rs374437787 0.00004
NM_014956.5(CEP164):c.3786C>T (p.His1262=) rs373372717 0.00004
NM_014956.5(CEP164):c.4287-11C>T rs199682751 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_014956.5(CEP164):c.499G>A (p.Val167Met) rs748619597 0.00004
NM_014967.5(FAN1):c.1A>G (p.Met1Val) rs139312614 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015102.5(NPHP4):c.1168C>T (p.Arg390Cys) rs748941493 0.00004
NM_015102.5(NPHP4):c.1448C>G (p.Pro483Arg) rs759608529 0.00004
NM_015102.5(NPHP4):c.1634G>A (p.Gly545Asp) rs200800785 0.00004
NM_015102.5(NPHP4):c.1822G>A (p.Glu608Lys) rs780231735 0.00004
NM_015102.5(NPHP4):c.1874C>T (p.Pro625Leu) rs377160096 0.00004
NM_015102.5(NPHP4):c.2752C>T (p.Arg918Trp) rs767779934 0.00004
NM_015102.5(NPHP4):c.2869G>A (p.Ala957Thr) rs772593921 0.00004
NM_015102.5(NPHP4):c.3073G>C (p.Asp1025His) rs760874774 0.00004
NM_015102.5(NPHP4):c.319G>A (p.Val107Met) rs377738968 0.00004
NM_015102.5(NPHP4):c.3310G>A (p.Ala1104Thr) rs747313030 0.00004
NM_015102.5(NPHP4):c.3403C>T (p.Arg1135Cys) rs374387338 0.00004
NM_015102.5(NPHP4):c.3739C>T (p.Arg1247Cys) rs377686745 0.00004
NM_015102.5(NPHP4):c.3817-11C>T rs774350462 0.00004
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=) rs763002637 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=) rs776657788 0.00004
NM_015102.5(NPHP4):c.494C>T (p.Pro165Leu) rs750994795 0.00004
NM_015102.5(NPHP4):c.503A>G (p.Gln168Arg) rs762284065 0.00004
NM_015102.5(NPHP4):c.593C>T (p.Ala198Val) rs370410995 0.00004
NM_015102.5(NPHP4):c.828C>T (p.Asp276=) rs765113652 0.00004
NM_015102.5(NPHP4):c.997G>A (p.Gly333Arg) rs772219240 0.00004
NM_015141.4(GPD1L):c.367-11C>A rs113202696 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) rs767269190 0.00004
NM_015158.5(KANK1):c.2389G>A (p.Val797Met) rs540922500 0.00004
NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) rs765330886 0.00004
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) rs766169056 0.00004
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) rs375800988 0.00004
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) rs750400215 0.00004
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1244-18G>A rs923409583 0.00004
NM_015272.5(RPGRIP1L):c.1582-11T>G rs182981308 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu) rs374098422 0.00004
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val) rs769280712 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg) rs201413825 0.00004
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp) rs750930363 0.00004
NM_015272.5(RPGRIP1L):c.3717G>A (p.Val1239=) rs989489575 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015311.3(OBSL1):c.3292C>T (p.Arg1098Cys) rs768636811 0.00004
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=) rs781523302 0.00004
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly) rs759468816 0.00004
NM_015443.4(KANSL1):c.1848+3C>T rs763185589 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=) rs371484505 0.00004
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) rs781056926 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala) rs199996069 0.00004
NM_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln) rs970203810 0.00004
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met) rs142139501 0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) rs764804901 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp) rs760316903 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) rs757464563 0.00004
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) rs115716101 0.00004
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) rs750991615 0.00004
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) rs560831644 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) rs981288139 0.00004
NM_015697.9(COQ2):c.57G>T (p.Gln19His) rs764905680 0.00004
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) rs770651250 0.00004
NM_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr) rs747767839 0.00004
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met) rs374807784 0.00004
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val) rs141761524 0.00004
NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys) rs779436059 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) rs374249526 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_016335.6(PRODH):c.518-11C>T rs112526442 0.00004
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys) rs761213168 0.00004
NM_016341.4(PLCE1):c.5840C>T (p.Ala1947Val) rs763348713 0.00004
NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln) rs535739714 0.00004
NM_016360.4(TACO1):c.66C>T (p.Pro22=) rs1008008624 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_017541.4(CRYGS):c.299A>C (p.Glu100Ala) rs375632598 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) rs766476867 0.00004
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017636.4(TRPM4):c.1150+1G>A rs200132598 0.00004
NM_017636.4(TRPM4):c.1308C>A (p.Asp436Glu) rs200262546 0.00004
NM_017636.4(TRPM4):c.3184C>G (p.Arg1062Gly) rs375523320 0.00004
NM_017662.5(TRPM6):c.1207+18G>A rs371897441 0.00004
NM_017662.5(TRPM6):c.1929C>G (p.Ile643Met) rs369402852 0.00004
NM_017662.5(TRPM6):c.2118C>T (p.Thr706=) rs149238868 0.00004
NM_017662.5(TRPM6):c.2478G>A (p.Pro826=) rs375316759 0.00004
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) rs763467593 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn) rs767513261 0.00004
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927 0.00004
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val) rs147690117 0.00004
NM_017866.6(TMEM70):c.410C>T (p.Pro137Leu) rs201367229 0.00004
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878 0.00004
NM_017909.4(RMND1):c.1077A>G (p.Leu359=) rs766598526 0.00004
NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys) rs755188314 0.00004
NM_017909.4(RMND1):c.526T>A (p.Phe176Ile) rs562882988 0.00004
NM_017909.4(RMND1):c.68G>A (p.Arg23Gln) rs377114459 0.00004
NM_017947.4(MOCOS):c.448G>A (p.Asp150Asn) rs371822612 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018139.3(DNAAF2):c.1115G>A (p.Arg372Gln) rs753893107 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018417.6(ADCY10):c.1742G>A (p.Arg581Gln) rs377634034 0.00004
NM_018417.6(ADCY10):c.2005A>G (p.Ile669Val) rs764189405 0.00004
NM_018417.6(ADCY10):c.229T>C (p.Tyr77His) rs148603197 0.00004
NM_018417.6(ADCY10):c.349A>G (p.Thr117Ala) rs529970359 0.00004
NM_018417.6(ADCY10):c.4504C>G (p.Gln1502Glu) rs200833497 0.00004
NM_018489.3(ASH1L):c.5578G>A (p.Ala1860Thr) rs752491383 0.00004
NM_018685.5(ANLN):c.1127G>A (p.Arg376His) rs368703385 0.00004
NM_018685.5(ANLN):c.1171C>T (p.Arg391Cys) rs562511350 0.00004
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met) rs373077021 0.00004
NM_018941.4(CLN8):c.556G>A (p.Glu186Lys) rs756636772 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_018979.4(WNK1):c.1820C>A (p.Pro607His) rs540823007 0.00004
NM_018979.4(WNK1):c.187A>C (p.Lys63Gln) rs780699781 0.00004
NM_018979.4(WNK1):c.1963G>C (p.Val655Leu) rs370488966 0.00004
NM_018979.4(WNK1):c.3663+8C>G rs1048572799 0.00004
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala) rs758763241 0.00004
NM_018979.4(WNK1):c.4388G>A (p.Ser1463Asn) rs757201529 0.00004
NM_018979.4(WNK1):c.4947T>C (p.Ile1649=) rs758667627 0.00004
NM_018979.4(WNK1):c.522C>T (p.Ser174=) rs536592144 0.00004
NM_018979.4(WNK1):c.5493A>T (p.Thr1831=) rs202024020 0.00004
NM_018979.4(WNK1):c.5998G>C (p.Glu2000Gln) rs774666279 0.00004
NM_018979.4(WNK1):c.6322G>A (p.Val2108Met) rs1437946999 0.00004
NM_018979.4(WNK1):c.6831+18C>T rs201628002 0.00004
NM_018993.4(RIN2):c.159-17G>A rs372254069 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_020041.3(SLC2A9):c.909C>T (p.Ser303=) rs371313593 0.00004
NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu) rs147777980 0.00004
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr) rs565896481 0.00004
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu) rs776558771 0.00004
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn) rs757681761 0.00004
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) rs376754153 0.00004
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys) rs749668601 0.00004
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) rs369587958 0.00004
NM_020347.4(LZTFL1):c.583G>C (p.Asp195His) rs781428652 0.00004
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu) rs748233107 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) rs202087308 0.00004
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) rs773046204 0.00004
NM_020436.5(SALL4):c.2385C>T (p.Ala795=) rs142446452 0.00004
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) rs373111608 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_020762.4(SRGAP1):c.2225-7G>A rs375559876 0.00004
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp) rs777009433 0.00004
NM_020921.4(NIN):c.5138T>C (p.Leu1713Pro) rs558920997 0.00004
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) rs201596252 0.00004
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) rs146291619 0.00004
NM_020937.4(FANCM):c.1752G>A (p.Arg584=) rs373696744 0.00004
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) rs112784867 0.00004
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) rs756249141 0.00004
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876 0.00004
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) rs774142261 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) rs952413457 0.00004
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) rs753876341 0.00004
NM_020937.4(FANCM):c.3882T>C (p.Val1294=) rs774984454 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.4222+5G>A rs201544504 0.00004
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858 0.00004
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) rs767619000 0.00004
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) rs781381334 0.00004
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2124C>T (p.Ala708=) rs749646777 0.00004
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) rs748799148 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.2790G>A (p.Thr930=) rs746599792 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) rs758800351 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.79T>C (p.Leu27=) rs377160777 0.00004
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys) rs371658961 0.00004
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp) rs1459266876 0.00004
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=) rs751812661 0.00004
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys) rs756550215 0.00004
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys) rs1040565692 0.00004
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=) rs753841406 0.00004
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys) rs1367396955 0.00004
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs) rs759709148 0.00004
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) rs371324992 0.00004
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser) rs367610523 0.00004
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly) rs559573879 0.00004
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp) rs267606697 0.00004
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys) rs375165169 0.00004
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=) rs372206587 0.00004
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=) rs745368829 0.00004
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=) rs769118582 0.00004
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) rs745354512 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg) rs759262489 0.00004
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln) rs1002596641 0.00004
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln) rs758674093 0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) rs372472186 0.00004
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=) rs767435491 0.00004
NM_021098.3(CACNA1H):c.4224-7C>T rs768524941 0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) rs771972820 0.00004
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val) rs777667628 0.00004
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) rs774455553 0.00004
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875 0.00004
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) rs946594196 0.00004
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val) rs371121613 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg) rs372601783 0.00004
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp) rs866836108 0.00004
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=) rs761380706 0.00004
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr) rs761696834 0.00004
NM_021098.3(CACNA1H):c.6049-11C>T rs764862065 0.00004
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln) rs772785163 0.00004
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=) rs369048631 0.00004
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met) rs772154386 0.00004
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys) rs768826048 0.00004
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=) rs1362184958 0.00004
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=) rs368014968 0.00004
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile) rs370867825 0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) rs369329819 0.00004
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser) rs766354453 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln) rs760992799 0.00004
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) rs747078723 0.00004
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys) rs754914337 0.00004
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser) rs372935921 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_022042.4(SLC26A1):c.1557G>A (p.Thr519=) rs146711224 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_022042.4(SLC26A1):c.1854G>A (p.Pro618=) rs748205966 0.00004
NM_022042.4(SLC26A1):c.704G>A (p.Arg235Gln) rs369080577 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys) rs932569189 0.00004
NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys) rs576922307 0.00004
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn) rs751417093 0.00004
NM_022356.4(P3H1):c.1285G>A (p.Glu429Lys) rs141759655 0.00004
NM_022356.4(P3H1):c.1637G>A (p.Arg546Gln) rs758596191 0.00004
NM_022356.4(P3H1):c.2006G>A (p.Arg669His) rs578161008 0.00004
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) rs770541943 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile) rs373787813 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.1293T>C (p.Pro431=) rs758725838 0.00004
NM_022489.4(INF2):c.1725C>T (p.Asn575=) rs368235032 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) rs368225621 0.00004
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser) rs749303157 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys) rs1450649026 0.00004
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile) rs144085962 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 0.00004
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) rs372538600 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) rs201993620 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024426.6(WT1):c.1016+15C>T rs752756426 0.00004
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile) rs782437679 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024649.5(BBS1):c.1474-14C>T rs369972079 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala) rs148647206 0.00004
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) rs587782579 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) rs144402299 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1882A>G (p.Met628Val) rs760505134 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg) rs922004210 0.00004
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala) rs745919146 0.00004
NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile) rs746290270 0.00004
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys) rs779521854 0.00004
NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg) rs767882606 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp) rs1197038878 0.00004
NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp) rs767674052 0.00004
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val) rs373432682 0.00004
NM_025074.7(FRAS1):c.7431G>A (p.Ala2477=) rs750729569 0.00004
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=) rs113839220 0.00004
NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg) rs752345568 0.00004
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr) rs189205642 0.00004
NM_025074.7(FRAS1):c.8642C>T (p.Pro2881Leu) rs779660887 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys) rs761705359 0.00004
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val) rs754736974 0.00004
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val) rs1038566350 0.00004
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His) rs774144082 0.00004
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His) rs548558619 0.00004
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln) rs568197175 0.00004
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=) rs372592245 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492 0.00004
NM_025114.4(CEP290):c.6271-15C>T rs764251517 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694 0.00004
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) rs377173165 0.00004
NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp) rs371283133 0.00004
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr) rs780116839 0.00004
NM_030787.4(CFHR5):c.846G>A (p.Pro282=) rs754917131 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_031220.4(PITPNM3):c.1086-5C>T rs775491788 0.00004
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) rs374823079 0.00004
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) rs200962317 0.00004
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp) rs752280639 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) rs1292834581 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_031885.5(BBS2):c.61A>G (p.Ile21Val) rs1319616745 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_032119.4(ADGRV1):c.12008T>C (p.Ile4003Thr) rs376911431 0.00004
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp) rs550815037 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg) rs200974394 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) rs751129081 0.00004
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu) rs774773395 0.00004
NM_032387.5(WNK4):c.1743G>A (p.Ser581=) rs754495845 0.00004
NM_032387.5(WNK4):c.924C>T (p.Val308=) rs779031905 0.00004
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) rs746940423 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) rs759468742 0.00004
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) rs777088052 0.00004
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile) rs372251654 0.00004
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln) rs779596439 0.00004
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420 0.00004
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.1846G>A (p.Val616Met) rs199863797 0.00004
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr) rs200755122 0.00004
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg) rs767473953 0.00004
NM_032444.4(SLX4):c.2864A>G (p.His955Arg) rs143694260 0.00004
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg) rs142079276 0.00004
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys) rs974413437 0.00004
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala) rs752941190 0.00004
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu) rs376133540 0.00004
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn) rs372991604 0.00004
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser) rs141860134 0.00004
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met) rs373107728 0.00004
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu) rs375172024 0.00004
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His) rs757202686 0.00004
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627 0.00004
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr) rs1056055996 0.00004
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu) rs776332160 0.00004
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly) rs750635051 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315 0.00004
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu) rs751763192 0.00004
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys) rs151018140 0.00004
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp) rs569861974 0.00004
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu) rs1031274414 0.00004
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln) rs780261532 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) rs751855769 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu) rs780297988 0.00004
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys) rs367570424 0.00004
NM_032578.4(MYPN):c.2565-7C>T rs373241021 0.00004
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln) rs768452699 0.00004
NM_032608.7(MYO18B):c.5259+3A>G rs780108646 0.00004
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu) rs797044624 0.00004
NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=) rs139890811 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg) rs149577332 0.00004
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr) rs370963556 0.00004
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00004
NM_033028.5(BBS4):c.1311C>G (p.Thr437=) rs945847885 0.00004
NM_033028.5(BBS4):c.405+6T>C rs926942882 0.00004
NM_033028.5(BBS4):c.501C>T (p.His167=) rs745789574 0.00004
NM_033028.5(BBS4):c.712-14T>A rs375598833 0.00004
NM_033028.5(BBS4):c.986C>T (p.Ala329Val) rs201987100 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_033380.3(COL4A5):c.271A>G (p.Ile91Val) rs919113147 0.00004
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=) rs751858178 0.00004
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_053025.4(MYLK):c.*165del rs886057856 0.00004
NM_053025.4(MYLK):c.*334C>T rs565933037 0.00004
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) rs377193216 0.00004
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) rs147311651 0.00004
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438 0.00004
NM_053025.4(MYLK):c.2403C>T (p.Gly801=) rs752536081 0.00004
NM_053025.4(MYLK):c.2652G>A (p.Glu884=) rs1314650520 0.00004
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln) rs371418382 0.00004
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys) rs749847711 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu) rs762030142 0.00004
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu) rs530737723 0.00004
NM_053025.4(MYLK):c.3395C>T (p.Thr1132Met) rs202025561 0.00004
NM_053025.4(MYLK):c.4916G>C (p.Gly1639Ala) rs752526557 0.00004
NM_053025.4(MYLK):c.4997A>G (p.Asp1666Gly) rs1361739212 0.00004
NM_053025.4(MYLK):c.712G>A (p.Gly238Arg) rs771169789 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) rs768846877 0.00004
NM_057176.3(BSND):c.411G>A (p.Gly137=) rs758111009 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) rs369959215 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) rs1052539943 0.00004
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr) rs200611889 0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671 0.00004
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys) rs201047740 0.00004
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys) rs142273664 0.00004
NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr) rs374639358 0.00004
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly) rs190193836 0.00004
NM_133379.5(TTN):c.15230C>T (p.Pro5077Leu) rs757243046 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_133497.4(KCNV2):c.38A>G (p.Tyr13Cys) rs774058342 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_138694.4(PKHD1):c.10452T>G (p.Phe3484Leu) rs545701882 0.00004
NM_138694.4(PKHD1):c.10666C>T (p.Arg3556Cys) rs201534300 0.00004
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=) rs754613918 0.00004
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val) rs781286941 0.00004
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp) rs557361225 0.00004
NM_138694.4(PKHD1):c.1691G>A (p.Arg564Gln) rs757182803 0.00004
NM_138694.4(PKHD1):c.1829A>G (p.Tyr610Cys) rs199846197 0.00004
NM_138694.4(PKHD1):c.2330C>T (p.Thr777Met) rs564240823 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_138694.4(PKHD1):c.2538C>T (p.His846=) rs775356491 0.00004
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298 0.00004
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe) rs398124482 0.00004
NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) rs201123815 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211 0.00004
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg) rs146649894 0.00004
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.630T>G (p.Leu210=) rs950789431 0.00004
NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) rs375436864 0.00004
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=) rs747038764 0.00004
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly) rs746000400 0.00004
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=) rs749740610 0.00004
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met) rs367818172 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln) rs587731517 0.00004
NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys) rs141056078 0.00004
NM_139027.6(ADAMTS13):c.539+6C>T rs782661001 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) rs761523326 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) rs536166099 0.00004
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) rs749553777 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) rs373057251 0.00004
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys) rs1196365963 0.00004
NM_144585.4(SLC22A12):c.1039C>T (p.Arg347Cys) rs374858585 0.00004
NM_144585.4(SLC22A12):c.12T>C (p.Ser4=) rs138704367 0.00004
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met) rs121907893 0.00004
NM_144596.4(TTC8):c.800T>A (p.Val267Asp) rs770333148 0.00004
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144773.4(PROKR2):c.803G>A (p.Arg268His) rs781065670 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_144997.7(FLCN):c.1068G>T (p.Leu356=) rs534904034 0.00004
NM_144997.7(FLCN):c.645C>T (p.Cys215=) rs772360950 0.00004
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser) rs1194767470 0.00004
NM_144997.7(FLCN):c.716G>A (p.Arg239His) rs753948488 0.00004
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00004
NM_145038.5(DRC1):c.1391G>A (p.Arg464His) rs200271366 0.00004
NM_145038.5(DRC1):c.1599+1G>A rs146412095 0.00004
NM_145725.3(TRAF3):c.139G>A (p.Val47Met) rs755721963 0.00004
NM_145725.3(TRAF3):c.563C>T (p.Ala188Val) rs763088249 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_148960.3(CLDN19):c.206C>T (p.Ser69Leu) rs373645751 0.00004
NM_148960.3(CLDN19):c.314C>T (p.Thr105Met) rs200640147 0.00004
NM_148960.3(CLDN19):c.349C>T (p.Arg117Cys) rs765527366 0.00004
NM_148960.3(CLDN19):c.658G>T (p.Gly220Cys) rs200491942 0.00004
NM_152383.5(DIS3L2):c.2059C>T (p.Arg687Trp) rs372762400 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) rs757525125 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln) rs144843913 0.00004
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala) rs915644000 0.00004
NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val) rs778690788 0.00004
NM_152743.4(BRAT1):c.1297C>G (p.Leu433Val) rs147978414 0.00004
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr) rs145715402 0.00004
NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu) rs778210113 0.00004
NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp) rs371254114 0.00004
NM_153240.5(NPHP3):c.185G>A (p.Arg62His) rs1295666035 0.00004
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) rs141073933 0.00004
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys) rs139738175 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys) rs755686359 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser) rs760388350 0.00004
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364 0.00004
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971 0.00004
NM_172107.4(KCNQ2):c.691-14C>T rs200448016 0.00004
NM_172201.2(KCNE2):c.*234G>A rs981526333 0.00004
NM_172201.2(KCNE2):c.228A>G (p.Arg76=) rs202169020 0.00004
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) rs141423405 0.00004
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) rs747045005 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) rs746996270 0.00004
NM_173628.4(DNAH17):c.11679A>G (p.Gly3893=) rs573132649 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr) rs769406938 0.00004
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.657+1G>T rs142824171 0.00004
NM_174936.4(PCSK9):c.752G>A (p.Arg251His) rs376945520 0.00004
NM_174936.4(PCSK9):c.814C>T (p.Arg272Trp) rs754744118 0.00004
NM_175875.5(SIX5):c.15T>G (p.Pro5=) rs1366167968 0.00004
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) rs768981892 0.00004
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00004
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955 0.00004
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu) rs149987249 0.00004
NM_178170.3(NEK8):c.2000C>T (p.Thr667Met) rs147625932 0.00004
NM_178170.3(NEK8):c.22C>G (p.Arg8Gly) rs199621354 0.00004
NM_178170.3(NEK8):c.269A>G (p.Glu90Gly) rs779113821 0.00004
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile) rs759644657 0.00004
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 0.00004
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr) rs372308915 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_182758.4(WDR72):c.739C>T (p.Leu247=) rs779467417 0.00004
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp) rs753398300 0.00004
NM_182914.3(SYNE2):c.12492+12C>T rs368374335 0.00004
NM_182914.3(SYNE2):c.13159-7A>G rs759110381 0.00004
NM_182916.3(TRNT1):c.567G>T (p.Gln189His) rs760683285 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu) rs376431679 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg) rs367800328 0.00004
NM_198129.4(LAMA3):c.4297A>G (p.Thr1433Ala) rs377141415 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met) rs375323203 0.00004
NM_198252.3(GSN):c.1416+17G>A rs747631468 0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) rs375902120 0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) rs1220983184 0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) rs148360076 0.00004
NM_198252.3(GSN):c.513+1G>A rs138677601 0.00004
NM_198252.3(GSN):c.754-8C>T rs757725237 0.00004
NM_198252.3(GSN):c.886+10A>G rs768148669 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln) rs765000469 0.00004
NM_198334.3(GANAB):c.2512-13A>G rs376460143 0.00004
NM_198428.3(BBS9):c.1198+13C>T rs753894974 0.00004
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) rs1312526837 0.00004
NM_198428.3(BBS9):c.1276-17C>T rs199758277 0.00004
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp) rs767170924 0.00004
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met) rs140675013 0.00004
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His) rs760084192 0.00004
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) rs779871496 0.00004
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter) rs150826095 0.00004
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) rs771447042 0.00004
NM_198428.3(BBS9):c.58T>G (p.Phe20Val) rs779638896 0.00004
NM_198428.3(BBS9):c.702+6G>A rs777329822 0.00004
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336 0.00004
NM_198578.4(LRRK2):c.1546A>G (p.Met516Val) rs746747483 0.00004
NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr) rs201184634 0.00004
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062 0.00004
NM_198578.4(LRRK2):c.3595C>T (p.Arg1199Trp) rs746433333 0.00004
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser) rs115353346 0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) rs530046423 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201384.3(PLEC):c.5482C>T (p.Arg1828Trp) rs1475632975 0.00004
NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val) rs781895825 0.00004
NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys) rs111250176 0.00004
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) rs1039406883 0.00004
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) rs730880059 0.00004
NM_201596.3(CACNB2):c.1735G>A (p.Val579Met) rs544535665 0.00004
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly) rs370475450 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.2167+15A>G rs779599960 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) rs752059469 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu) rs755744742 0.00004
NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr) rs183068418 0.00004
NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys) rs138283768 0.00004
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln) rs765718616 0.00004
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs) rs769926034 0.00004
NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser) rs750450348 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser) rs181283286 0.00004
NM_212482.4(FN1):c.247C>A (p.Arg83=) rs780120577 0.00004
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) rs370342980 0.00004
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) rs751026014 0.00004
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys) rs200891393 0.00004
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val) rs370180533 0.00004
NM_212482.4(FN1):c.6002G>A (p.Arg2001His) rs749462589 0.00004
NM_212482.4(FN1):c.6066C>T (p.Thr2022=) rs144324514 0.00004
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val) rs1330217896 0.00004
NM_213607.3(CCDC103):c.197G>A (p.Gly66Glu) rs199961859 0.00004
NM_213655.5(WNK1):c.2350C>T (p.Arg784Cys) rs758110645 0.00004
NM_213655.5(WNK1):c.2380C>T (p.Leu794Phe) rs773790877 0.00004
NM_213655.5(WNK1):c.3020C>T (p.Pro1007Leu) rs539230381 0.00004
NM_213655.5(WNK1):c.3267G>A (p.Leu1089=) rs374001403 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_000022.4(ADA):c.992A>C (p.Lys331Thr) rs372131830 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg) rs772345709 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000035.4(ALDOB):c.128G>A (p.Arg43His) rs780442649 0.00003
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_000039.3(APOA1):c.483G>C (p.Leu161=) rs747245248 0.00003
NM_000041.4(APOE):c.249C>T (p.Asp83=) rs767980905 0.00003
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) rs140549609 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) rs778963465 0.00003
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) rs759444110 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) rs774584291 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) rs763228636 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511 0.00003
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) rs373476328 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4029G>A (p.Ser1343=) rs190354796 0.00003
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp) rs148227405 0.00003
NM_000064.4(C3):c.4350+7C>A rs148695501 0.00003
NM_000064.4(C3):c.4457-13C>T rs375382978 0.00003
NM_000064.4(C3):c.4546+18G>A rs377076572 0.00003
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000067.3(CA2):c.648C>T (p.Ser216=) rs376387073 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) rs776209588 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.1146-7C>T rs376749931 0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met) rs772344567 0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg) rs748953468 0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr) rs760212248 0.00003
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) rs375288190 0.00003
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) rs146627440 0.00003
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=) rs759045664 0.00003
NM_000090.4(COL3A1):c.*406A>G rs770571552 0.00003
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser) rs759565407 0.00003
NM_000090.4(COL3A1):c.853-7T>C rs377063305 0.00003
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.2489-9C>T rs749574789 0.00003
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) rs761717909 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000091.5(COL4A3):c.714G>A (p.Pro238=) rs555225084 0.00003
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu) rs1412919917 0.00003
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) rs777805216 0.00003
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=) rs778433928 0.00003
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) rs899227425 0.00003
NM_000092.5(COL4A4):c.4091-18C>T rs368900542 0.00003
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=) rs772611085 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000092.5(COL4A4):c.72-18G>A rs770916599 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 0.00003
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=) rs761393259 0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=) rs763764765 0.00003
NM_000098.3(CPT2):c.103C>T (p.Leu35=) rs2929073 0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.611C>T (p.Ala204Val) rs867555821 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=) rs1043151688 0.00003
NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val) rs749521942 0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000111.3(SLC26A3):c.455G>A (p.Arg152His) rs763721296 0.00003
NM_000113.3(TOR1A):c.385G>A (p.Val129Ile) rs529094238 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) rs200291162 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr) rs752323052 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00003
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) rs748263867 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240 0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850 0.00003
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln) rs889715188 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000138.5(FBN1):c.164+5A>G rs397515760 0.00003
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe) rs767293952 0.00003
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr) rs377621293 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly) rs754919275 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys) rs186805359 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val) rs756754760 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp) rs767884599 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) rs747777955 0.00003
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) rs374123528 0.00003
NM_000168.6(GLI3):c.974G>A (p.Arg325His) rs781356257 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln) rs187209250 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000179.3(MSH6):c.362G>A (p.Arg121His) rs769279475 0.00003
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) rs765983374 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000187.4(HGD):c.477G>A (p.Gln159=) rs1351109217 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000187.4(HGD):c.920G>A (p.Arg307His) rs752719362 0.00003
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000195.5(HPS1):c.1533-6C>T rs751468611 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 0.00003
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_000196.4(HSD11B2):c.935G>A (p.Arg312His) rs766239000 0.00003
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn) rs147758873 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val) rs368015396 0.00003
NM_000211.5(ITGB2):c.1943C>T (p.Pro648Leu) rs373963624 0.00003
NM_000213.5(ITGB4):c.1911G>A (p.Ala637=) rs376183156 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) rs368675736 0.00003
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977 0.00003
NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn) rs755047447 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_000217.3(KCNA1):c.53A>C (p.His18Pro) rs367921276 0.00003
NM_000217.3(KCNA1):c.631A>G (p.Ile211Val) rs775789299 0.00003
NM_000217.3(KCNA1):c.641C>T (p.Ser214Phe) rs764561596 0.00003
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000219.6(KCNE1):c.*457G>A rs886057024 0.00003
NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) rs202036483 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000229.2(LCAT):c.1021G>A (p.Val341Met) rs746487870 0.00003
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549 0.00003
NM_000231.3(SGCG):c.1-3C>T rs373335254 0.00003
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) rs751559990 0.00003
NM_000239.3(LYZ):c.269G>A (p.Gly90Glu) rs141911537 0.00003
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu) rs377754606 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr) rs779558690 0.00003
NM_000243.3(MEFV):c.1533G>A (p.Ala511=) rs771061550 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu) rs758628487 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly) rs797001768 0.00003
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp) rs759997694 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg) rs1437454428 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000255.4(MMUT):c.123A>G (p.Pro41=) rs753769272 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249 0.00003
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val) rs374349666 0.00003
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys) rs3729946 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys) rs374976635 0.00003
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln) rs397515986 0.00003
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser) rs397516009 0.00003
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln) rs747308839 0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) rs565663412 0.00003
NM_000257.4(MYH7):c.639+5G>T rs765724983 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) rs868977760 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 0.00003
NM_000271.5(NPC1):c.1221G>C (p.Gln407His) rs765539977 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000271.5(NPC1):c.89A>T (p.Glu30Val) rs776166330 0.00003
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala) rs371099243 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000278.5(PAX2):c.954C>T (p.Tyr318=) rs78122364 0.00003
NM_000281.4(PCBD1):c.228G>A (p.Thr76=) rs778445183 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353 0.00003
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn) rs774590964 0.00003
NM_000303.3(PMM2):c.24C>G (p.Leu8=) rs751757467 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) rs575777099 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000316.3(PTH1R):c.1396-19G>A rs370461607 0.00003
NM_000316.3(PTH1R):c.1645G>A (p.Glu549Lys) rs200667470 0.00003
NM_000316.3(PTH1R):c.1738C>T (p.Arg580Trp) rs139381461 0.00003
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) rs138965708 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=) rs371560571 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His) rs746504626 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.2262+18C>G rs1011934257 0.00003
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met) rs199473279 0.00003
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys) rs760837591 0.00003
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys) rs199473329 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000337.5(SGCD):c.-135C>T rs886060284 0.00003
NM_000337.6(SGCD):c.*3580G>A rs1214313359 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) rs750459196 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.716C>T (p.Ala239Val) rs377153196 0.00003
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) rs772144467 0.00003
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) rs199833808 0.00003
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325 0.00003
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) rs942607677 0.00003
NM_000338.3(SLC12A1):c.816T>C (p.Val272=) rs369827965 0.00003
NM_000340.2(SLC2A2):c.109-19A>G rs182772346 0.00003
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) rs200592320 0.00003
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe) rs776866172 0.00003
NM_000361.3(THBD):c.1614C>A (p.His538Gln) rs1436540579 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1334-16C>T rs373774544 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000376.3(VDR):c.146+5G>A rs756376013 0.00003
NM_000376.3(VDR):c.219A>G (p.Arg73=) rs369091846 0.00003
NM_000376.3(VDR):c.361C>T (p.Arg121Trp) rs752590757 0.00003
NM_000376.3(VDR):c.519A>T (p.Arg173Ser) rs199620286 0.00003
NM_000376.3(VDR):c.781G>A (p.Val261Ile) rs746214307 0.00003
NM_000376.3(VDR):c.897C>T (p.Asp299=) rs746128447 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000379.4(XDH):c.1319T>A (p.Val440Asp) rs750893035 0.00003
NM_000379.4(XDH):c.167C>G (p.Ser56Cys) rs754593222 0.00003
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) rs767059856 0.00003
NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu) rs201855759 0.00003
NM_000379.4(XDH):c.485C>A (p.Thr162Asn) rs766718491 0.00003
NM_000379.4(XDH):c.698G>T (p.Arg233Leu) rs201194179 0.00003
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000384.3(APOB):c.10262T>C (p.Met3421Thr) rs755119833 0.00003
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val) rs147416761 0.00003
NM_000384.3(APOB):c.13586A>G (p.His4529Arg) rs958014928 0.00003
NM_000384.3(APOB):c.13607C>T (p.Thr4536Met) rs748727595 0.00003
NM_000384.3(APOB):c.1437T>A (p.Thr479=) rs761559174 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.2830T>C (p.Leu944=) rs376866376 0.00003
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln) rs372154910 0.00003
NM_000384.3(APOB):c.4352G>T (p.Gly1451Val) rs777471630 0.00003
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn) rs757793421 0.00003
NM_000384.3(APOB):c.598G>A (p.Ala200Thr) rs763878189 0.00003
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) rs768045701 0.00003
NM_000384.3(APOB):c.655C>T (p.Arg219Cys) rs145661815 0.00003
NM_000384.3(APOB):c.6731G>A (p.Ser2244Asn) rs146333152 0.00003
NM_000384.3(APOB):c.6794A>C (p.Lys2265Thr) rs759255307 0.00003
NM_000384.3(APOB):c.7565G>A (p.Arg2522Gln) rs781243278 0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305 0.00003
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg) rs765290152 0.00003
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser) rs138465008 0.00003
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro) rs376974746 0.00003
NM_000384.3(APOB):c.8840G>C (p.Ser2947Thr) rs183475426 0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys) rs766376456 0.00003
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile) rs770981667 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) rs1322715021 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000428.3(LTBP2):c.3316G>A (p.Gly1106Arg) rs201430837 0.00003
NM_000428.3(LTBP2):c.4246G>A (p.Gly1416Arg) rs764828666 0.00003
NM_000428.3(LTBP2):c.4285C>T (p.Arg1429Trp) rs150484024 0.00003
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000432.4(MYL2):c.375G>A (p.Thr125=) rs190020833 0.00003
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=) rs748774860 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) rs750104173 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000444.6(PHEX):c.1587-16G>T rs374593246 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) rs778766461 0.00003
NM_000465.4(BARD1):c.1148T>A (p.Met383Lys) rs763596413 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val) rs587782662 0.00003
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu) rs780241203 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000478.6(ALPL):c.339C>T (p.Thr113=) rs377453516 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.863-15T>C rs373980626 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000485.3(APRT):c.460G>A (p.Val154Met) rs141669365 0.00003
NM_000486.6(AQP2):c.258C>T (p.Ala86=) rs780540045 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) rs74315271 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg) rs773254902 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) rs200096159 0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) rs375892072 0.00003
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) rs372647044 0.00003
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) rs201423805 0.00003
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 0.00003
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000503.6(EYA1):c.125-13T>C rs753263675 0.00003
NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp) rs376931849 0.00003
NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn) rs371408686 0.00003
NM_000503.6(EYA1):c.692A>G (p.Asn231Ser) rs1563422226 0.00003
NM_000503.6(EYA1):c.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000537.4(REN):c.127C>T (p.Arg43Ter) rs397514690 0.00003
NM_000537.4(REN):c.249+18C>T rs377235534 0.00003
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His) rs924687841 0.00003
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His) rs572373150 0.00003
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp) rs1445617605 0.00003
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val) rs1223090052 0.00003
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln) rs1413644550 0.00003
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) rs752665367 0.00003
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn) rs572103362 0.00003
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00003
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153 0.00003
NM_000540.3(RYR1):c.1925+19G>A rs764074598 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln) rs759902314 0.00003
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val) rs758782788 0.00003
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln) rs777191617 0.00003
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln) rs373541911 0.00003
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His) rs374776563 0.00003
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser) rs558190898 0.00003
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys) rs765121148 0.00003
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile) rs750818753 0.00003
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys) rs767382534 0.00003
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys) rs760625346 0.00003
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His) rs767487116 0.00003
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly) rs1302216965 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe) rs193922797 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.722G>A (p.Arg241His) rs552007612 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys) rs138687891 0.00003
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412 0.00003
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys) rs766362010 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His) rs756487708 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000548.5(TSC2):c.138+18G>A rs966402370 0.00003
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353 0.00003
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096 0.00003
NM_000548.5(TSC2):c.2097+13G>A rs367915255 0.00003
NM_000548.5(TSC2):c.2837+12G>A rs755041349 0.00003
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697 0.00003
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=) rs1060504106 0.00003
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=) rs780955293 0.00003
NM_000548.5(TSC2):c.4663-14C>T rs397515174 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000553.6(WRN):c.1652C>T (p.Pro551Leu) rs781107893 0.00003
NM_000553.6(WRN):c.2098G>A (p.Val700Ile) rs1038838933 0.00003
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg) rs200403732 0.00003
NM_000574.5(CD55):c.1081+1G>C rs746324299 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val) rs867496787 0.00003
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln) rs867906741 0.00003
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651 0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) rs398123499 0.00003
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp) rs758442329 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=) rs768096981 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val) rs749674325 0.00003
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396 0.00003
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile) rs769703001 0.00003
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391 0.00003
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_000789.4(ACE):c.1523G>A (p.Arg508Gln) rs746397573 0.00003
NM_000789.4(ACE):c.249+16C>G rs1568035049 0.00003
NM_000789.4(ACE):c.3061G>A (p.Val1021Met) rs764129854 0.00003
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu) rs534480370 0.00003
NM_000789.4(ACE):c.3769G>A (p.Val1257Met) rs759857038 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=) rs765873474 0.00003
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=) rs140697732 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=) rs757895735 0.00003
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp) rs778735978 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_000944.5(PPP3CA):c.558C>A (p.Pro186=) rs575861563 0.00003
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001002295.2(GATA3):c.948G>A (p.Thr316=) rs12572959 0.00003
NM_001003841.3(SLC6A19):c.1173+20C>T rs982302856 0.00003
NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=) rs143414604 0.00003
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp) rs777046481 0.00003
NM_001003841.3(SLC6A19):c.774+1G>A rs554777392 0.00003
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) rs369806569 0.00003
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu) rs150906379 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) rs141949168 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) rs1467649797 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001035.3(RYR2):c.1024G>A (p.Val342Met) rs371898166 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.2617G>A (p.Val873Met) rs369248015 0.00003
NM_001035.3(RYR2):c.294+3A>G rs1321804058 0.00003
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln) rs1172697175 0.00003
NM_001035.3(RYR2):c.3214+7T>G rs748941127 0.00003
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544 0.00003
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile) rs762899950 0.00003
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met) rs377136047 0.00003
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His) rs753179691 0.00003
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val) rs767827863 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00003
NM_001040108.2(MLH3):c.3676G>A (p.Ala1226Thr) rs747817741 0.00003
NM_001040108.2(MLH3):c.443T>C (p.Val148Ala) rs1484161045 0.00003
NM_001040151.2(SCN3B):c.395G>A (p.Arg132Gln) rs755967151 0.00003
NM_001041.4(SI):c.1762C>T (p.Arg588Cys) rs201583834 0.00003
NM_001041.4(SI):c.1995C>T (p.Asp665=) rs757380218 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020 0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala) rs768100667 0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=) rs960922254 0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr) rs779805310 0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu) rs758407768 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001041.4(SI):c.5266A>G (p.Ile1756Val) rs535971512 0.00003
NM_001042413.2(GLIS3):c.1214C>T (p.Pro405Leu) rs764072714 0.00003
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=) rs755713904 0.00003
NM_001042413.2(GLIS3):c.638G>A (p.Ser213Asn) rs748030278 0.00003
NM_001042432.2(CLN3):c.461-3C>A rs181995380 0.00003
NM_001042475.3(CEP85L):c.1020+5224G>A rs886061007 0.00003
NM_001042475.3(CEP85L):c.1020+5314G>A rs886061005 0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.1182T>C (p.Phe394=) rs786202581 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2916A>C (p.Leu972=) rs1210119104 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.5269-18G>A rs371616556 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001042492.3(NF1):c.7189+7A>G rs767151173 0.00003
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=) rs143289497 0.00003
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_001046.3(SLC12A2):c.3100+20T>A rs776147551 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) rs587782683 0.00003
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser) rs771641237 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His) rs538427220 0.00003
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp) rs572643772 0.00003
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val) rs772360411 0.00003
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187 0.00003
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=) rs369901028 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile) rs781919461 0.00003
NM_001105206.3(LAMA4):c.2302C>T (p.His768Tyr) rs140107576 0.00003
NM_001105206.3(LAMA4):c.2635G>C (p.Asp879His) rs371253565 0.00003
NM_001105206.3(LAMA4):c.3697-3C>T rs536295629 0.00003
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro) rs376369192 0.00003
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp) rs371370857 0.00003
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln) rs1375382054 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) rs781175970 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) rs545673916 0.00003
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) rs138702591 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061 0.00003
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937 0.00003
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) rs776541692 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001126049.2(KLLN):c.-845C>T rs587782068 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=) rs753403903 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127511.3(APC):c.-32C>T rs1015952631 0.00003
NM_001127511.3(APC):c.-88T>G rs531931776 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001128205.2(SULF1):c.2194C>T (p.Arg732Trp) rs754254864 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001128840.3(CACNA1D):c.1479-19C>T rs377304772 0.00003
NM_001130823.3(DNMT1):c.4773+11C>T rs777602633 0.00003
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) rs755151805 0.00003
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met) rs766924837 0.00003
NM_001134363.3(RBM20):c.*2054T>C rs867192062 0.00003
NM_001134363.3(RBM20):c.*511G>A rs886046709 0.00003
NM_001134363.3(RBM20):c.*965G>A rs886046711 0.00003
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) rs1021465138 0.00003
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser) rs780673583 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg) rs989951034 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001135022.2(ELMOD3):c.701C>T (p.Ala234Val) rs779560360 0.00003
NM_001136193.2(FASTKD2):c.1978C>T (p.Arg660Trp) rs186489901 0.00003
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) rs771134176 0.00003
NM_001142285.2(RPS24):c.526G>A (p.Val176Met) rs558584969 0.00003
NM_001142730.3(KCTD1):c.2384C>T (p.Ser795Leu) rs370694764 0.00003
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00003
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg) rs771221172 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001144967.3(NEDD4L):c.1654-10C>G rs373387102 0.00003
NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr) rs1008436842 0.00003
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser) rs377143286 0.00003
NM_001144967.3(NEDD4L):c.2307T>C (p.Thr769=) rs192231264 0.00003
NM_001144967.3(NEDD4L):c.410+14G>T rs745965638 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr) rs374257100 0.00003
NM_001148.6(ANK2):c.1111G>A (p.Val371Ile) rs759437203 0.00003
NM_001148.6(ANK2):c.1118C>T (p.Ala373Val) rs772102642 0.00003
NM_001148.6(ANK2):c.2813A>T (p.Lys938Met) rs778597568 0.00003
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln) rs780110299 0.00003
NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly) rs777618921 0.00003
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys) rs753351853 0.00003
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) rs913893905 0.00003
NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro) rs767308208 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483 0.00003
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) rs770532500 0.00003
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) rs761847996 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) rs72664230 0.00003
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) rs142505247 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001171613.2(PREPL):c.888+1G>A rs758019788 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 0.00003
NM_001177316.2(SLC34A3):c.1093+9G>A rs199976309 0.00003
NM_001177316.2(SLC34A3):c.1335+6G>T rs117115558 0.00003
NM_001177316.2(SLC34A3):c.1432G>A (p.Gly478Arg) rs758689905 0.00003
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=) rs772903522 0.00003
NM_001177316.2(SLC34A3):c.449-1G>C rs1345816189 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.561-8G>A rs756580408 0.00003
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001177316.2(SLC34A3):c.846+15C>T rs755035076 0.00003
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) rs761666704 0.00003
NM_001195305.3(BBIP1):c.245_248dup (p.Glu84fs) rs1210114050 0.00003
NM_001195305.3(BBIP1):c.263G>A (p.Arg88Gln) rs781040735 0.00003
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) rs782215946 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001202.6(BMP4):c.93G>C (p.Gly31=) rs375563326 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001243133.2(NLRP3):c.147T>C (p.His49=) rs199687987 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.2321+11G>A rs371752834 0.00003
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00003
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) rs201525433 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His) rs373042822 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=) rs116687117 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys) rs374920916 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu) rs370647845 0.00003
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr) rs373173599 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys) rs768575577 0.00003
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) rs368765896 0.00003
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile) rs756186781 0.00003
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=) rs570991398 0.00003
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly) rs756793304 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met) rs756844952 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser) rs774425875 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val) rs761041978 0.00003
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile) rs747479318 0.00003
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp) rs375219301 0.00003
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) rs372826489 0.00003
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser) rs368750726 0.00003
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr) rs372143487 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp) rs898098652 0.00003
NM_001267550.2(TTN):c.28456A>G (p.Ile9486Val) rs1327402224 0.00003
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro) rs749146795 0.00003
NM_001267550.2(TTN):c.29785G>A (p.Glu9929Lys) rs1204774037 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr) rs769915175 0.00003
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr) rs774643116 0.00003
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu) rs200732179 0.00003
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe) rs1227088008 0.00003
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg) rs781317174 0.00003
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser) rs779794774 0.00003
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg) rs574694398 0.00003
NM_001267550.2(TTN):c.39895+16del rs761838184 0.00003
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) rs746667196 0.00003
NM_001267550.2(TTN):c.43538G>A (p.Ser14513Asn) rs557216748 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His) rs755611206 0.00003
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys) rs762723635 0.00003
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His) rs757663389 0.00003
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) rs886055272 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp) rs727503620 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val) rs371424482 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988 0.00003
NM_001267550.2(TTN):c.57848-4G>A rs369462016 0.00003
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His) rs1023184567 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg) rs575313522 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile) rs772377673 0.00003
NM_001267550.2(TTN):c.66566T>C (p.Ile22189Thr) rs369934753 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His) rs761566436 0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly) rs749655939 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) rs794727456 0.00003
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu) rs370763285 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His) rs749274818 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001267550.2(TTN):c.79281C>G (p.Asp26427Glu) rs766994654 0.00003
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) rs368484949 0.00003
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile) rs886042786 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448 0.00003
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly) rs1176407616 0.00003
NM_001267550.2(TTN):c.93886G>A (p.Val31296Ile) rs794729534 0.00003
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys) rs72648261 0.00003
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His) rs759948951 0.00003
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser) rs975713554 0.00003
NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys) rs886042755 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) rs201257063 0.00003
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys) rs377456237 0.00003
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521 0.00003
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln) rs371047521 0.00003
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala) rs369965539 0.00003
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu) rs1432380664 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) rs750627875 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln) rs535337577 0.00003
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) rs147655483 0.00003
NM_001282225.2(ADA2):c.555T>C (p.Asn185=) rs758525993 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His) rs748641028 0.00003
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=) rs774023506 0.00003
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001303.4(COX10):c.1185C>T (p.Leu395=) rs772255579 0.00003
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val) rs143650210 0.00003
NM_001349206.2(LPIN1):c.541A>G (p.Met181Val) rs200284114 0.00003
NM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala) rs370440936 0.00003
NM_001349338.3(FOXP1):c.2020G>A (p.Glu674Lys) rs368167189 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln) rs201351378 0.00003
NM_001354604.2(MITF):c.881-9C>G rs766938558 0.00003
NM_001354712.2(THRB):c.175A>G (p.Ile59Val) rs141172732 0.00003
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) rs752363398 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=) rs764986740 0.00003
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs) rs1318653026 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_001360.3(DHCR7):c.822C>T (p.Asn274=) rs139787408 0.00003
NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) rs778216481 0.00003
NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp) rs770412777 0.00003
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321 0.00003
NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe) rs369148683 0.00003
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) rs374848403 0.00003
NM_001365999.1(SZT2):c.2875C>T (p.Leu959=) rs1570647334 0.00003
NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) rs201767217 0.00003
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) rs754422054 0.00003
NM_001367561.1(DOCK7):c.3211A>G (p.Asn1071Asp) rs371894094 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482 0.00003
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys) rs150899380 0.00003
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr) rs912789864 0.00003
NM_001370595.2(COA8):c.129A>C (p.Ser43=) rs143925033 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys) rs868379708 0.00003
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln) rs751043203 0.00003
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=) rs763804955 0.00003
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg) rs375540445 0.00003
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862 0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His) rs750598025 0.00003
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln) rs917280846 0.00003
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His) rs748624161 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00003
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe) rs377341653 0.00003
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270 0.00003
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg) rs750765175 0.00003
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246 0.00003
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu) rs1323058030 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser) rs761136859 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg) rs781370939 0.00003
NM_001378454.1(ALMS1):c.9112C>T (p.Pro3038Ser) rs370622410 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile) rs748962196 0.00003
NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly) rs200490112 0.00003
NM_001379081.2(FREM1):c.246C>T (p.Cys82=) rs766485109 0.00003
NM_001379081.2(FREM1):c.2811G>A (p.Gly937=) rs150482858 0.00003
NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr) rs556974765 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379500.1(COL18A1):c.1195G>A (p.Gly399Ser) rs769431765 0.00003
NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser) rs371933414 0.00003
NM_001379500.1(COL18A1):c.577C>T (p.Arg193Trp) rs571541763 0.00003
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 0.00003
NM_001384479.1(AGT):c.282C>T rs756049025 0.00003
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser) rs980413221 0.00003
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) rs775457117 0.00003
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) rs759005825 0.00003
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) rs769304117 0.00003
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) rs772945484 0.00003
NM_001384732.1(CPLANE1):c.570+12C>T rs1339498232 0.00003
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) rs138088605 0.00003
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) rs140657139 0.00003
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn) rs752341833 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) rs376064818 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr) rs281865460 0.00003
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827 0.00003
NM_001457.4(FLNB):c.3724+4G>C rs993620203 0.00003
NM_001458.5(FLNC):c.1471G>A (p.Val491Met) rs770264114 0.00003
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala) rs781169622 0.00003
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr) rs556477946 0.00003
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg) rs1469272964 0.00003
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala) rs775405275 0.00003
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met) rs587780337 0.00003
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His) rs371508414 0.00003
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) rs1175931652 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001692.4(ATP6V1B1):c.118+10C>T rs368755541 0.00003
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=) rs545034098 0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001701.4(BAAT):c.851T>G (p.Leu284Ter) rs1419255104 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_001735.3(C5):c.1125T>G (p.Val375=) rs778186090 0.00003
NM_001735.3(C5):c.1717-5T>C rs779247145 0.00003
NM_001735.3(C5):c.1947T>C (p.Ala649=) rs768999689 0.00003
NM_001735.3(C5):c.3413G>A (p.Arg1138Gln) rs779879112 0.00003
NM_001735.3(C5):c.4127G>A (p.Ser1376Asn) rs764508773 0.00003
NM_001735.3(C5):c.435T>A (p.Val145=) rs760334587 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=) rs576636085 0.00003
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.4929-9G>A rs756038842 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) rs376973042 0.00003
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln) rs751235722 0.00003
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.233G>T (p.Arg78Leu) rs573916832 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001963.6(EGF):c.3110C>T (p.Ala1037Val) rs572990451 0.00003
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002204.4(ITGA3):c.646G>A (p.Gly216Ser) rs772933610 0.00003
NM_002204.4(ITGA3):c.84C>T (p.Cys28=) rs982451007 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002234.4(KCNA5):c.1A>G (p.Met1Val) rs889711431 0.00003
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361 0.00003
NM_002246.3(KCNK3):c.802G>C (p.Gly268Arg) rs774439143 0.00003
NM_002246.3(KCNK3):c.844A>G (p.Thr282Ala) rs779537390 0.00003
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=) rs373952285 0.00003
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) rs572289637 0.00003
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp) rs144487632 0.00003
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp) rs748395355 0.00003
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys) rs376660822 0.00003
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) rs746761674 0.00003
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln) rs536235346 0.00003
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln) rs751242273 0.00003
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) rs201519651 0.00003
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=) rs371257983 0.00003
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His) rs149601073 0.00003
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) rs753340192 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00003
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=) rs367555198 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4112-18T>C rs549631739 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met) rs199871539 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002335.4(LRP5):c.883+9C>T rs543311335 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser) rs587780769 0.00003
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr) rs748016197 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.2399G>A (p.Arg800His) rs535438755 0.00003
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys) rs368912844 0.00003
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) rs753891816 0.00003
NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln) rs759454361 0.00003
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser) rs544624250 0.00003
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His) rs758792342 0.00003
NM_002471.4(MYH6):c.530+6C>T rs374289431 0.00003
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=) rs753335327 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) rs199971000 0.00003
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) rs373384951 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) rs757547632 0.00003
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) rs547770783 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr) rs199654191 0.00003
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile) rs756408490 0.00003
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys) rs201387564 0.00003
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) rs763795192 0.00003
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn) rs770319821 0.00003
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val) rs1023178766 0.00003
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) rs781252922 0.00003
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) rs187172581 0.00003
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) rs765295579 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) rs764737760 0.00003
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00003
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) rs745366033 0.00003
NM_002661.5(PLCG2):c.1194-16C>A rs778184999 0.00003
NM_002661.5(PLCG2):c.147G>A (p.Thr49=) rs969768555 0.00003
NM_002661.5(PLCG2):c.2235+3A>G rs544435013 0.00003
NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val) rs761876435 0.00003
NM_002661.5(PLCG2):c.2522A>G (p.Glu841Gly) rs756855626 0.00003
NM_002661.5(PLCG2):c.3524T>C (p.Ile1175Thr) rs1265110994 0.00003
NM_002661.5(PLCG2):c.3650A>G (p.Tyr1217Cys) rs373013824 0.00003
NM_002661.5(PLCG2):c.438G>A (p.Leu146=) rs976068042 0.00003
NM_002661.5(PLCG2):c.766-7T>C rs1055824436 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) rs748074236 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002979.5(SCP2):c.973+15T>G rs544069554 0.00003
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg) rs201928318 0.00003
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu) rs199771927 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr) rs1266620798 0.00003
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr) rs568906114 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=) rs369724341 0.00003
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser) rs200007170 0.00003
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr) rs374722116 0.00003
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys) rs371648806 0.00003
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) rs786205848 0.00003
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) rs750459988 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003124.5(SPR):c.16G>C (p.Gly6Arg) rs769415486 0.00003
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu) rs182268162 0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His) rs766386026 0.00003
NM_003238.6(TGFB2):c.-679G>A rs886045964 0.00003
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile) rs757551766 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003242.6(TGFBR2):c.*328A>C rs886058309 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003331.5(TYK2):c.1820G>A (p.Arg607His) rs759137101 0.00003
NM_003331.5(TYK2):c.2026G>A (p.Val676Ile) rs868590753 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_003392.7(WNT5A):c.448A>G (p.Met150Val) rs750679240 0.00003
NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys) rs766388444 0.00003
NM_003392.7(WNT5A):c.684+18C>A rs1264331427 0.00003
NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys) rs369701725 0.00003
NM_003467.3(CXCR4):c.250G>C (p.Asp84His) rs368016542 0.00003
NM_003476.5(CSRP3):c.*575T>C rs886048093 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) rs200638996 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) rs369794887 0.00003
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409 0.00003
NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg) rs1373179700 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) rs991634550 0.00003
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys) rs757875185 0.00003
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) rs201792575 0.00003
NM_003597.5(KLF11):c.431T>C (p.Val144Ala) rs753049849 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00003
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) rs766255360 0.00003
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070 0.00003
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_003640.5(ELP1):c.2386A>G (p.Met796Val) rs748482757 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) rs776891269 0.00003
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys) rs200941360 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) rs1370759222 0.00003
NM_003640.5(ELP1):c.859G>A (p.Val287Ile) rs755938001 0.00003
NM_003647.3(DGKE):c.1688T>C (p.Ile563Thr) rs767939518 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) rs747305746 0.00003
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) rs745687224 0.00003
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His) rs113994064 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met) rs769093980 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val) rs779266344 0.00003
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=) rs143240690 0.00003
NM_003982.4(SLC7A7):c.894+6G>A rs373812507 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp) rs780356433 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.1988C>T (p.Ala663Val) rs41309715 0.00003
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly) rs886038905 0.00003
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu) rs398123892 0.00003
NM_004006.3(DMD):c.2912A>T (p.Asp971Val) rs762154042 0.00003
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr) rs748123444 0.00003
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu) rs748769566 0.00003
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp) rs755477994 0.00003
NM_004006.3(DMD):c.626T>C (p.Ile209Thr) rs372832497 0.00003
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln) rs756238158 0.00003
NM_004006.3(DMD):c.6726A>G (p.Lys2242=) rs145993057 0.00003
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr) rs772732788 0.00003
NM_004064.5(CDKN1B):c.280C>T (p.Pro94Ser) rs146217922 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00003
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004104.5(FASN):c.6172G>A (p.Val2058Met) rs752767411 0.00003
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) rs754893758 0.00003
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) rs150326789 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209 0.00003
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) rs373340696 0.00003
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481 0.00003
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) rs774420370 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser) rs1031608025 0.00003
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu) rs373446989 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_004357.5(CD151):c.295A>C (p.Ile99Leu) rs777391775 0.00003
NM_004357.5(CD151):c.457-16C>T rs200783645 0.00003
NM_004357.5(CD151):c.703-15C>T rs143948122 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr) rs373284909 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) rs201814804 0.00003
NM_004525.3(LRP2):c.11328G>T (p.Trp3776Cys) rs758068621 0.00003
NM_004525.3(LRP2):c.11419A>G (p.Ser3807Gly) rs571830028 0.00003
NM_004525.3(LRP2):c.11590G>A (p.Asp3864Asn) rs151286117 0.00003
NM_004525.3(LRP2):c.11605G>A (p.Asp3869Asn) rs766415685 0.00003
NM_004525.3(LRP2):c.12385A>G (p.Asn4129Asp) rs1014040945 0.00003
NM_004525.3(LRP2):c.12590G>C (p.Gly4197Ala) rs140499844 0.00003
NM_004525.3(LRP2):c.13384C>T (p.Pro4462Ser) rs747641533 0.00003
NM_004525.3(LRP2):c.1388A>G (p.Asn463Ser) rs202154723 0.00003
NM_004525.3(LRP2):c.1435A>C (p.Asn479His) rs771749233 0.00003
NM_004525.3(LRP2):c.188C>T (p.Ala63Val) rs150829296 0.00003
NM_004525.3(LRP2):c.2076A>G (p.Thr692=) rs772992405 0.00003
NM_004525.3(LRP2):c.2117-20C>T rs190077478 0.00003
NM_004525.3(LRP2):c.3013A>G (p.Arg1005Gly) rs368148692 0.00003
NM_004525.3(LRP2):c.4979G>A (p.Arg1660His) rs373017594 0.00003
NM_004525.3(LRP2):c.5535C>A (p.Ile1845=) rs772030872 0.00003
NM_004525.3(LRP2):c.6281-7C>A rs200673871 0.00003
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser) rs528193479 0.00003
NM_004525.3(LRP2):c.8578+19C>T rs184250625 0.00003
NM_004525.3(LRP2):c.9178G>A (p.Gly3060Arg) rs773430993 0.00003
NM_004525.3(LRP2):c.9221C>T (p.Thr3074Met) rs755568696 0.00003
NM_004560.4(ROR2):c.1552C>T (p.Arg518Trp) rs148896640 0.00003
NM_004560.4(ROR2):c.1799C>T (p.Ala600Val) rs143738026 0.00003
NM_004560.4(ROR2):c.1873G>A (p.Asp625Asn) rs754476697 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) rs200396791 0.00003
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) rs200518416 0.00003
NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val) rs201466403 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.380G>A (p.Arg127His) rs780985218 0.00003
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu) rs1270561172 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_004629.2(FANCG):c.934G>A (p.Val312Ile) rs530535955 0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2664-7T>C rs910612404 0.00003
NM_004646.4(NPHS1):c.2724C>T (p.Asn908=) rs200269176 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val) rs781117481 0.00003
NM_004646.4(NPHS1):c.87C>T (p.Ser29=) rs544235158 0.00003
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met) rs761901627 0.00003
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala) rs779863826 0.00003
NM_004655.4(AXIN2):c.1478C>G (p.Ser493Trp) rs367697282 0.00003
NM_004655.4(AXIN2):c.1904A>G (p.His635Arg) rs775207779 0.00003
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile) rs762654322 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_004795.4(KL):c.1005T>C (p.Gly335=) rs749183356 0.00003
NM_004795.4(KL):c.292C>T (p.Leu98=) rs762177521 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_004836.7(EIF2AK3):c.1121T>C (p.Ile374Thr) rs760865789 0.00003
NM_004924.6(ACTN4):c.1276G>A (p.Glu426Lys) rs752949932 0.00003
NM_004924.6(ACTN4):c.240C>T (p.Asp80=) rs1179808544 0.00003
NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn) rs750429771 0.00003
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=) rs749956565 0.00003
NM_004924.6(ACTN4):c.2616C>T (p.Pro872=) rs747925584 0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=) rs533147998 0.00003
NM_004944.4(DNASE1L3):c.211C>T (p.Leu71=) rs201845352 0.00003
NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr) rs777430061 0.00003
NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu) rs747698984 0.00003
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=) rs149553440 0.00003
NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr) rs775958627 0.00003
NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp) rs149359240 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_005026.5(PIK3CD):c.1242G>A (p.Ala414=) rs758253493 0.00003
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) rs748770403 0.00003
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) rs765018232 0.00003
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp) rs755300564 0.00003
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) rs745645715 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_005477.3(HCN4):c.1713C>T (p.Gly571=) rs754495351 0.00003
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val) rs1064797200 0.00003
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg) rs748279911 0.00003
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) rs564647544 0.00003
NM_005506.4(SCARB2):c.117G>A (p.Lys39=) rs1006710581 0.00003
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val) rs778593496 0.00003
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys) rs761458720 0.00003
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu) rs750929369 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile) rs372425259 0.00003
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.2812A>G (p.Thr938Ala) rs148584647 0.00003
NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn) rs551552300 0.00003
NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val) rs773257553 0.00003
NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala) rs762794527 0.00003
NM_005751.5(AKAP9):c.5368+4C>T rs759286117 0.00003
NM_005751.5(AKAP9):c.5369-3T>C rs375778014 0.00003
NM_005751.5(AKAP9):c.9577A>G (p.Arg3193Gly) rs199762211 0.00003
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser) rs140880290 0.00003
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622 0.00003
NM_005912.3(MC4R):c.-121G>A rs541962206 0.00003
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) rs372794914 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser) rs1363347811 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_006005.3(WFS1):c.1008C>G (p.Leu336=) rs755063164 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1680C>T (p.Ser560=) rs760906868 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) rs566587586 0.00003
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) rs377102310 0.00003
NM_006005.3(WFS1):c.2406C>T (p.Ile802=) rs201102144 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.882C>T (p.His294=) rs571928866 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr) rs537359796 0.00003
NM_006030.4(CACNA2D2):c.364G>T (p.Asp122Tyr) rs552824990 0.00003
NM_006031.6(PCNT):c.139G>C (p.Asp47His) rs112837071 0.00003
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453 0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741 0.00003
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697 0.00003
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg) rs571785750 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr) rs142150663 0.00003
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly) rs375004458 0.00003
NM_006302.3(MOGS):c.2112C>T (p.Pro704=) rs561758565 0.00003
NM_006302.3(MOGS):c.2363G>A (p.Arg788His) rs199724485 0.00003
NM_006302.3(MOGS):c.65C>A (p.Ala22Glu) rs753961807 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs) rs773105686 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) rs1033081366 0.00003
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00003
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) rs767338891 0.00003
NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) rs143232538 0.00003
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006493.4(CLN5):c.420A>G (p.Gln140=) rs753732321 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val) rs371834396 0.00003
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His) rs746690639 0.00003
NM_006514.4(SCN10A):c.2324C>T (p.Thr775Ile) rs150501065 0.00003
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys) rs770046573 0.00003
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val) rs747839312 0.00003
NM_006514.4(SCN10A):c.3237C>T (p.Asp1079=) rs745921364 0.00003
NM_006514.4(SCN10A):c.3943G>A (p.Asp1315Asn) rs147640811 0.00003
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs) rs747321219 0.00003
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp) rs200388087 0.00003
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=) rs778065772 0.00003
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=) rs142658750 0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=) rs1028599771 0.00003
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=) rs754115748 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu) rs142690672 0.00003
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe) rs969318004 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007214.5(SEC63):c.1441-5C>T rs370312823 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_007315.4(STAT1):c.2087C>A (p.Pro696His) rs138723664 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_012179.4(FBXO7):c.465G>A (p.Ala155=) rs765523844 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys) rs754554333 0.00003
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys) rs753738560 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_012210.4(TRIM32):c.206G>A (p.Arg69His) rs11556350 0.00003
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln) rs753519978 0.00003
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro) rs775940650 0.00003
NM_012301.4(MAGI2):c.2117C>T (p.Thr706Met) rs773722155 0.00003
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) rs747326285 0.00003
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile) rs199785661 0.00003
NM_013296.5(GPSM2):c.1208T>C (p.Leu403Ser) rs747510797 0.00003
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp) rs201576692 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser) rs566961713 0.00003
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu) rs148619523 0.00003
NM_014000.3(VCL):c.1940C>T (p.Ala647Val) rs534449109 0.00003
NM_014000.3(VCL):c.2443A>G (p.Lys815Glu) rs960017518 0.00003
NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln) rs543465915 0.00003
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014140.4(SMARCAL1):c.1069T>A (p.Phe357Ile) rs369180164 0.00003
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_014140.4(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077 0.00003
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00003
NM_014140.4(SMARCAL1):c.733G>A (p.Gly245Ser) rs137914185 0.00003
NM_014140.4(SMARCAL1):c.76G>A (p.Glu26Lys) rs886055616 0.00003
NM_014140.4(SMARCAL1):c.866A>C (p.Lys289Thr) rs767482393 0.00003
NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly) rs753860243 0.00003
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438 0.00003
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=) rs373304304 0.00003
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser) rs146217716 0.00003
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln) rs374483122 0.00003
NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys) rs763706390 0.00003
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) rs554638593 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val) rs776523157 0.00003
NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln) rs200753692 0.00003
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile) rs768355648 0.00003
NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser) rs143285077 0.00003
NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val) rs749721462 0.00003
NM_014339.7(IL17RA):c.794A>G (p.Asn265Ser) rs201250724 0.00003
NM_014425.5(INVS):c.1654G>A (p.Ala552Thr) rs748693441 0.00003
NM_014425.5(INVS):c.1669A>G (p.Ile557Val) rs762519529 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.2272G>A (p.Glu758Lys) rs767989658 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00003
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672 0.00003
NM_014491.4(FOXP2):c.1856G>A (p.Ser619Asn) rs757373725 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014795.4(ZEB2):c.3527C>A (p.Pro1176His) rs568337755 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) rs374317240 0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) rs145125254 0.00003
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met) rs202080477 0.00003
NM_014956.5(CEP164):c.1233+9G>A rs1042105817 0.00003
NM_014956.5(CEP164):c.3278+5_3278+8del rs929035130 0.00003
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu) rs75301270 0.00003
NM_014956.5(CEP164):c.390G>A (p.Ser130=) rs773045906 0.00003
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala) rs757246851 0.00003
NM_014956.5(CEP164):c.765+3A>T rs1256710112 0.00003
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser) rs767609128 0.00003
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg) rs376214075 0.00003
NM_014967.5(FAN1):c.1899del (p.Cys633fs) rs761988851 0.00003
NM_014967.5(FAN1):c.2264del (p.Glu755fs) rs756840415 0.00003
NM_014967.5(FAN1):c.2616del (p.Asp873fs) rs750056424 0.00003
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00003
NM_015102.5(NPHP4):c.143T>C (p.Leu48Pro) rs374239338 0.00003
NM_015102.5(NPHP4):c.2032G>A (p.Ala678Thr) rs368101076 0.00003
NM_015102.5(NPHP4):c.2280C>T (p.Ile760=) rs1013943590 0.00003
NM_015102.5(NPHP4):c.2419C>T (p.Arg807Cys) rs770004315 0.00003
NM_015102.5(NPHP4):c.2513G>A (p.Gly838Asp) rs1233207932 0.00003
NM_015102.5(NPHP4):c.2527C>G (p.Pro843Ala) rs775263560 0.00003
NM_015102.5(NPHP4):c.2620G>A (p.Val874Met) rs1412960310 0.00003
NM_015102.5(NPHP4):c.3268G>A (p.Ala1090Thr) rs573269001 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015102.5(NPHP4):c.3452C>T (p.Pro1151Leu) rs549077156 0.00003
NM_015102.5(NPHP4):c.3555T>A (p.Asn1185Lys) rs753555544 0.00003
NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) rs539967736 0.00003
NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu) rs199625626 0.00003
NM_015102.5(NPHP4):c.3882G>T (p.Arg1294Ser) rs367814493 0.00003
NM_015102.5(NPHP4):c.3961G>A (p.Val1321Met) rs372485746 0.00003
NM_015102.5(NPHP4):c.4076G>A (p.Arg1359Gln) rs766202367 0.00003
NM_015141.4(GPD1L):c.505+2T>G rs943929226 0.00003
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg) rs146477959 0.00003
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) rs754470891 0.00003
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) rs762757246 0.00003
NM_015158.5(KANK1):c.783G>A (p.Gln261=) rs759180739 0.00003
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00003
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00003
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg) rs750446830 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile) rs145572901 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly) rs372404481 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) rs142387463 0.00003
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met) rs536037779 0.00003
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117 0.00003
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr) rs772520453 0.00003
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr) rs149203489 0.00003
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys) rs201229339 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln) rs373855798 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=) rs150800846 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp) rs759914921 0.00003
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=) rs190201507 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 0.00003
NM_015443.4(KANSL1):c.843C>T (p.Asp281=) rs753023870 0.00003
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp) rs561508479 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015599.3(PGM3):c.618A>C (p.Arg206Ser) rs148817553 0.00003
NM_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 0.00003
NM_015662.3(IFT172):c.2681G>A (p.Arg894His) rs561927411 0.00003
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys) rs749474609 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp) rs372119905 0.00003
NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly) rs758621800 0.00003
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His) rs375036014 0.00003
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys) rs375338402 0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val) rs769180655 0.00003
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys) rs747564290 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys) rs372465070 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373 0.00003
NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) rs368814566 0.00003
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp) rs753625227 0.00003
NM_016341.4(PLCE1):c.1698T>A (p.Pro566=) rs377307234 0.00003
NM_016341.4(PLCE1):c.5607A>G (p.Ala1869=) rs536348835 0.00003
NM_016341.4(PLCE1):c.5612A>G (p.Tyr1871Cys) rs762506926 0.00003
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala) rs763350514 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_016366.3(CABP2):c.3G>A (p.Met1Ile) rs1354716315 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val) rs746027670 0.00003
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys) rs752275226 0.00003
NM_016729.3(FOLR1):c.724T>A (p.Trp242Arg) rs796052445 0.00003
NM_017415.3(KLHL3):c.1421C>T (p.Ala474Val) rs200144703 0.00003
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) rs782559583 0.00003
NM_017570.5(OPLAH):c.646G>A (p.Val216Met) rs374238208 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017636.4(TRPM4):c.2778+1G>A rs756554490 0.00003
NM_017636.4(TRPM4):c.345G>A (p.Pro115=) rs750991001 0.00003
NM_017636.4(TRPM4):c.3563G>T (p.Trp1188Leu) rs1064796865 0.00003
NM_017636.4(TRPM4):c.582C>A (p.Val194=) rs914389404 0.00003
NM_017649.5(CNNM2):c.2073+8G>T rs1302420255 0.00003
NM_017649.5(CNNM2):c.2565C>T (p.Asn855=) rs540196504 0.00003
NM_017662.5(TRPM6):c.3694del (p.Gln1232fs) rs1179034156 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) rs794728668 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017780.4(CHD7):c.1677G>A (p.Ser559=) rs568348314 0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) rs776871277 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=) rs529369619 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys) rs773921234 0.00003
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr) rs534027051 0.00003
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu) rs755871359 0.00003
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met) rs370267615 0.00003
NM_017827.4(SARS2):c.795C>T (p.Arg265=) rs372151812 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017866.6(TMEM70):c.211-11T>C rs111260030 0.00003
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638 0.00003
NM_017909.4(RMND1):c.188A>G (p.Asn63Ser) rs374223733 0.00003
NM_017909.4(RMND1):c.661G>C (p.Gly221Arg) rs1275538949 0.00003
NM_017947.4(MOCOS):c.1421C>T (p.Thr474Met) rs201559593 0.00003
NM_017947.4(MOCOS):c.1616C>T (p.Ser539Phe) rs150119583 0.00003
NM_017947.4(MOCOS):c.40A>T (p.Thr14Ser) rs779808561 0.00003
NM_017947.4(MOCOS):c.930G>A (p.Ser310=) rs780099735 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp) rs139643093 0.00003
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro) rs200703028 0.00003
NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro) rs201610819 0.00003
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) rs758201217 0.00003
NM_018417.6(ADCY10):c.2056G>A (p.Val686Ile) rs373573088 0.00003
NM_018417.6(ADCY10):c.3667T>C (p.Tyr1223His) rs151050988 0.00003
NM_018419.3(SOX18):c.1014C>G (p.Pro338=) rs757152110 0.00003
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter) rs201822162 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018941.4(CLN8):c.288G>A (p.Ala96=) rs533351136 0.00003
NM_018941.4(CLN8):c.697C>G (p.Leu233Val) rs1380901432 0.00003
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002 0.00003
NM_018979.4(WNK1):c.130G>A (p.Ala44Thr) rs764240024 0.00003
NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe) rs144114167 0.00003
NM_018979.4(WNK1):c.2684A>G (p.Gln895Arg) rs200100184 0.00003
NM_018979.4(WNK1):c.3210-18T>C rs79776602 0.00003
NM_018979.4(WNK1):c.5326G>A (p.Glu1776Lys) rs551435012 0.00003
NM_018979.4(WNK1):c.568G>A (p.Ala190Thr) rs1229285578 0.00003
NM_018979.4(WNK1):c.576G>C (p.Glu192Asp) rs971232152 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_019109.5(ALG1):c.1050C>T (p.Ala350=) rs777066439 0.00003
NM_019109.5(ALG1):c.1263+18C>T rs570783073 0.00003
NM_019109.5(ALG1):c.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg) rs948351481 0.00003
NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile) rs370374119 0.00003
NM_020117.11(LARS1):c.109T>G (p.Leu37Val) rs576752929 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020208.4(SLC6A20):c.1098+2T>C rs1275324148 0.00003
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=) rs779053318 0.00003
NM_020297.4(ABCC9):c.1012-7G>A rs727502874 0.00003
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) rs151197166 0.00003
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) rs180739851 0.00003
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) rs143685061 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_020381.4(PDSS2):c.382G>A (p.Val128Met) rs201645466 0.00003
NM_020433.5(JPH2):c.1078A>C (p.Asn360His) rs747676827 0.00003
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu) rs756327822 0.00003
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr) rs769284597 0.00003
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln) rs750828996 0.00003
NM_020433.5(JPH2):c.77A>G (p.His26Arg) rs141664528 0.00003
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) rs747560279 0.00003
NM_020436.5(SALL4):c.42G>C (p.Ser14=) rs137903141 0.00003
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) rs139802240 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020632.3(ATP6V0A4):c.1740G>A (p.Met580Ile) rs150912912 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_020632.3(ATP6V0A4):c.2113G>A (p.Gly705Arg) rs376273720 0.00003
NM_020632.3(ATP6V0A4):c.2471A>G (p.Lys824Arg) rs141194465 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) rs775663650 0.00003
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995 0.00003
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) rs1180319315 0.00003
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) rs946759727 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) rs553521590 0.00003
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) rs368982372 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) rs949619907 0.00003
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280 0.00003
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) rs192079020 0.00003
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) rs545625150 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.178C>T (p.Pro60Ser) rs748402485 0.00003
NM_020975.6(RET):c.1879+18G>A rs368088386 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2284+15C>T rs768252806 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.2542A>G (p.Met848Val) rs794728685 0.00003
NM_020975.6(RET):c.897C>T (p.Phe299=) rs529153319 0.00003
NM_020975.6(RET):c.96G>A (p.Ser32=) rs139821724 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp) rs565896400 0.00003
NM_020987.5(ANK3):c.6695G>A (p.Arg2232Gln) rs770107349 0.00003
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=) rs764371721 0.00003
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=) rs770284927 0.00003
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser) rs747036748 0.00003
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) rs771171443 0.00003
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=) rs764559629 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser) rs547294711 0.00003
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.2789+10A>G rs535085854 0.00003
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=) rs775833368 0.00003
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=) rs376470846 0.00003
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val) rs774136809 0.00003
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703 0.00003
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg) rs748550409 0.00003
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln) rs751148760 0.00003
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln) rs775183925 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3364-13C>T rs780323364 0.00003
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala) rs774661170 0.00003
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile) rs150821225 0.00003
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys) rs753494538 0.00003
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val) rs774773999 0.00003
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu) rs1371741882 0.00003
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln) rs560884609 0.00003
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His) rs199669141 0.00003
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=) rs951676471 0.00003
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=) rs58835716 0.00003
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile) rs748947682 0.00003
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=) rs4609848 0.00003
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys) rs777952986 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=) rs753643337 0.00003
NM_021098.3(CACNA1H):c.643+13C>A rs372696554 0.00003
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu) rs765757800 0.00003
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) rs780870706 0.00003
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys) rs375586314 0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) rs775972605 0.00003
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr) rs1231529131 0.00003
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=) rs535504262 0.00003
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) rs759782690 0.00003
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) rs1365782479 0.00003
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile) rs201970876 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) rs781123077 0.00003
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg) rs747727711 0.00003
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu) rs368231984 0.00003
NM_022042.4(SLC26A1):c.547G>A (p.Ala183Thr) rs546110251 0.00003
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022098.4(XPNPEP3):c.969+6T>C rs371875441 0.00003
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp) rs748390268 0.00003
NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp) rs945163627 0.00003
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp) rs756442796 0.00003
NM_022114.4(PRDM16):c.340G>A (p.Val114Met) rs749076034 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022168.4(IFIH1):c.2305-2A>G rs199696786 0.00003
NM_022356.4(P3H1):c.1215G>A (p.Glu405=) rs527679322 0.00003
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.394C>T (p.Leu132Phe) rs769782854 0.00003
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) rs539453877 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022725.3(FANCF):c.-21A>G rs751857151 0.00003
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) rs780228540 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro) rs1423734778 0.00003
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly) rs759470099 0.00003
NM_022725.4(FANCF):c.67G>T (p.Val23Phe) rs777143902 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) rs761171314 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met) rs141758325 0.00003
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr) rs142611230 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln) rs745438711 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) rs143866883 0.00003
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) rs139658777 0.00003
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_024426.6(WT1):c.1038C>T (p.Ser346=) rs750018485 0.00003
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024598.4(USB1):c.1A>G (p.Met1Val) rs760648279 0.00003
NM_024642.5(GALNT12):c.1672A>G (p.Ser558Gly) rs759843363 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.684C>T (p.Leu228=) rs764202615 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) rs767926590 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1846G>C (p.Asp616His) rs786201907 0.00003
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del) rs587778583 0.00003
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu) rs764509489 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) rs767572725 0.00003
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp) rs375746803 0.00003
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1A>G (p.Met1Val) rs752145803 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_025074.7(FRAS1):c.-18G>T rs750662462 0.00003
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln) rs370319615 0.00003
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp) rs759074187 0.00003
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp) rs375515578 0.00003
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln) rs772059263 0.00003
NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val) rs774087208 0.00003
NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg) rs997260986 0.00003
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln) rs771923121 0.00003
NM_025074.7(FRAS1):c.7030-6G>A rs771012779 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.8827C>T (p.Arg2943Trp) rs751338045 0.00003
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val) rs886059637 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025114.4(CEP290):c.1359G>A (p.Ser453=) rs779195306 0.00003
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689 0.00003
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile) rs558414868 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala) rs948383352 0.00003
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu) rs372640024 0.00003
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=) rs777382672 0.00003
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys) rs1337676817 0.00003
NM_025114.4(CEP290):c.442-20_442-19insA rs772322663 0.00003
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile) rs372565248 0.00003
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu) rs371737956 0.00003
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly) rs759725378 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_030632.3(ASXL3):c.3464C>T (p.Ser1155Leu) rs377619533 0.00003
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val) rs776373143 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_031418.4(ANO3):c.743A>C (p.Gln248Pro) rs1381117686 0.00003
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp) rs774964160 0.00003
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs) rs763385432 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1928G>A (p.Arg643His) rs532361142 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) rs1191790453 0.00003
NM_031885.5(BBS2):c.612+17C>T rs745726316 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs) rs730881646 0.00003
NM_032119.4(ADGRV1):c.14303C>T (p.Ser4768Leu) rs200130204 0.00003
NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser) rs775440063 0.00003
NM_032119.4(ADGRV1):c.6730G>A (p.Val2244Ile) rs759954556 0.00003
NM_032387.5(WNK4):c.2009G>A (p.Arg670His) rs367768336 0.00003
NM_032387.5(WNK4):c.2136G>A (p.Pro712=) rs372128794 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623 0.00003
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile) rs775559576 0.00003
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala) rs763833617 0.00003
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser) rs374644679 0.00003
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr) rs764210911 0.00003
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser) rs144454312 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr) rs138124860 0.00003
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668 0.00003
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744 0.00003
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490 0.00003
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly) rs186784513 0.00003
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser) rs775853263 0.00003
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys) rs201422743 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg) rs376437029 0.00003
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His) rs774858804 0.00003
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn) rs779970904 0.00003
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu) rs370637700 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His) rs746314060 0.00003
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043 0.00003
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr) rs145527531 0.00003
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu) rs144057906 0.00003
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp) rs771230395 0.00003
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp) rs199912910 0.00003
NM_032444.4(SLX4):c.922G>A (p.Val308Met) rs775151113 0.00003
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln) rs759447034 0.00003
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) rs761985295 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00003
NM_032578.4(MYPN):c.194C>T (p.Ala65Val) rs147553723 0.00003
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr) rs199476411 0.00003
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=) rs1321971649 0.00003
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=) rs759420426 0.00003
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu) rs138187845 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu) rs781855511 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_033028.5(BBS4):c.-3A>G rs771900208 0.00003
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr) rs969384648 0.00003
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser) rs751716258 0.00003
NM_033028.5(BBS4):c.233G>A (p.Arg78His) rs200396355 0.00003
NM_033028.5(BBS4):c.928T>C (p.Leu310=) rs375714932 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033337.3(CAV3):c.*592G>A rs187370461 0.00003
NM_033337.3(CAV3):c.433G>A (p.Val145Met) rs142475018 0.00003
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu) rs764543034 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe) rs191497639 0.00003
NM_033380.3(COL4A5):c.892-4A>G rs777914438 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_052813.5(CARD9):c.1121G>A (p.Gly374Asp) rs777420944 0.00003
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) rs202225055 0.00003
NM_053025.4(MYLK):c.1360G>A (p.Val454Met) rs746226982 0.00003
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237 0.00003
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849 0.00003
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys) rs369503342 0.00003
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) rs773540567 0.00003
NM_053025.4(MYLK):c.3836A>G (p.Gln1279Arg) rs956816227 0.00003
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=) rs780641277 0.00003
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) rs149002594 0.00003
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141 0.00003
NM_053025.4(MYLK):c.661C>T (p.His221Tyr) rs760622096 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.514G>A (p.Glu172Lys) rs774559680 0.00003
NM_057176.3(BSND):c.64G>A (p.Gly22Ser) rs145048739 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu) rs879254131 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr) rs777575172 0.00003
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu) rs1337596788 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_133261.3(GIPC3):c.915C>T (p.Gly305=) rs142749099 0.00003
NM_133379.5(TTN):c.10649G>A (p.Arg3550Gln) rs189154521 0.00003
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter) rs755956493 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val) rs727504687 0.00003
NM_133379.5(TTN):c.15488G>A (p.Arg5163His) rs150492317 0.00003
NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter) rs1450038140 0.00003
NM_133379.5(TTN):c.16003G>A (p.Glu5335Lys) rs1485174648 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His) rs750974539 0.00003
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) rs149150736 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu) rs775014599 0.00003
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143 0.00003
NM_138694.4(PKHD1):c.12188A>G (p.His4063Arg) rs755769277 0.00003
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=) rs1252381398 0.00003
NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys) rs727504094 0.00003
NM_138694.4(PKHD1):c.131-16C>T rs1174461021 0.00003
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp) rs139770251 0.00003
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294 0.00003
NM_138694.4(PKHD1):c.1847C>G (p.Ala616Gly) rs145855006 0.00003
NM_138694.4(PKHD1):c.2347C>T (p.Arg783Trp) rs749170990 0.00003
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met) rs778864835 0.00003
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837 0.00003
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=) rs778487042 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=) rs758960742 0.00003
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys) rs762702777 0.00003
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly) rs377674026 0.00003
NM_138694.4(PKHD1):c.6583G>A (p.Glu2195Lys) rs151108325 0.00003
NM_138694.4(PKHD1):c.7361G>A (p.Cys2454Tyr) rs747072396 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=) rs781630151 0.00003
NM_138927.4(SON):c.4783T>C (p.Ser1595Pro) rs746252717 0.00003
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr) rs782396358 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys) rs771113424 0.00003
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys) rs757571525 0.00003
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln) rs910594117 0.00003
NM_144596.4(TTC8):c.54G>A (p.Arg18=) rs745942356 0.00003
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly) rs749721461 0.00003
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg) rs150439088 0.00003
NM_144997.7(FLCN):c.1380C>T (p.Leu460=) rs773581294 0.00003
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) rs369115472 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.450T>C (p.Phe150=) rs200672897 0.00003
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553 0.00003
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser) rs774491699 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr) rs769250170 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_148960.3(CLDN19):c.526G>A (p.Val176Met) rs772247940 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_152383.5(DIS3L2):c.2245G>A (p.Val749Met) rs755574750 0.00003
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) rs370849006 0.00003
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) rs775524491 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser) rs931117746 0.00003
NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp) rs768700664 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu) rs763699273 0.00003
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) rs542131508 0.00003
NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val) rs1011685228 0.00003
NM_153240.5(NPHP3):c.2531A>G (p.Tyr844Cys) rs752254827 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg) rs540287231 0.00003
NM_153240.5(NPHP3):c.3901A>C (p.Lys1301Gln) rs769027723 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) rs373745258 0.00003
NM_153766.3(KCNJ1):c.792G>A (p.Ala264=) rs567888166 0.00003
NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile) rs762988627 0.00003
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln) rs61177390 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val) rs745728640 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_172201.2(KCNE2):c.-121C>T rs188625398 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) rs745541081 0.00003
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn) rs775952116 0.00003
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) rs765655284 0.00003
NM_173551.5(ANKS6):c.1430G>A (p.Arg477His) rs368551263 0.00003
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=) rs756110261 0.00003
NM_173551.5(ANKS6):c.2395-7T>C rs775510768 0.00003
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) rs974222769 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00003
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg) rs750329453 0.00003
NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu) rs771978846 0.00003
NM_174936.4(PCSK9):c.721G>A (p.Val241Met) rs147478188 0.00003
NM_174936.4(PCSK9):c.754G>A (p.Val252Met) rs149139428 0.00003
NM_175875.5(SIX5):c.936C>T (p.Pro312=) rs374751577 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp) rs768987725 0.00003
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser) rs771957843 0.00003
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_177438.3(DICER1):c.359A>T (p.Lys120Met) rs1060503608 0.00003
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu) rs374047783 0.00003
NM_178170.3(NEK8):c.1179C>G (p.Ile393Met) rs775138270 0.00003
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln) rs372901697 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210 0.00003
NM_182476.3(COQ6):c.180T>C (p.Phe60=) rs773886692 0.00003
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys) rs766270526 0.00003
NM_182919.4(TICAM1):c.935A>G (p.Gln312Arg) rs763590950 0.00003
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_198076.6(COX20):c.222-3A>C rs200065889 0.00003
NM_198076.6(COX20):c.269T>C (p.Ile90Thr) rs150172035 0.00003
NM_198076.6(COX20):c.301T>C (p.Tyr101His) rs776767802 0.00003
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) rs781764487 0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) rs368079865 0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) rs370997492 0.00003
NM_198252.3(GSN):c.1932G>A (p.Thr644=) rs759980004 0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) rs766055612 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_198428.3(BBS9):c.1377C>T (p.Val459=) rs763552337 0.00003
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala) rs369146555 0.00003
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) rs377588119 0.00003
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) rs749948775 0.00003
NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) rs757754301 0.00003
NM_198428.3(BBS9):c.2487C>T (p.Thr829=) rs746373450 0.00003
NM_198428.3(BBS9):c.528T>A (p.Pro176=) rs757308943 0.00003
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile) rs540580770 0.00003
NM_198578.4(LRRK2):c.137C>T (p.Thr46Met) rs781394575 0.00003
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) rs78154388 0.00003
NM_198578.4(LRRK2):c.3091T>C (p.Cys1031Arg) rs201552816 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu) rs201012950 0.00003
NM_198578.4(LRRK2):c.5931C>T (p.His1977=) rs201119482 0.00003
NM_198578.4(LRRK2):c.7382C>T (p.Ala2461Val) rs201037550 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln) rs369570610 0.00003
NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser) rs782532633 0.00003
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) rs369891021 0.00003
NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys) rs749927570 0.00003
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) rs138219703 0.00003
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) rs748276504 0.00003
NM_212482.4(FN1):c.3288C>T (p.Thr1096=) rs754499962 0.00003
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) rs766780476 0.00003
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) rs375667567 0.00003
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) rs755984905 0.00003
NM_213655.5(WNK1):c.2147G>A (p.Arg716His) rs150330647 0.00003
NM_213655.5(WNK1):c.2162C>T (p.Ser721Leu) rs556259173 0.00003
NM_213655.5(WNK1):c.2926G>A (p.Gly976Ser) rs369073199 0.00003
NR_001566.1(TERC):n.37A>G rs199422261 0.00003
NR_003051.3(RMRP):n.-21A>C rs563106486 0.00003
NR_003051.3(RMRP):n.-26A>G rs1479868789 0.00003
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00003
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.601del (p.Tyr201fs) rs772650083 0.00002
NM_000016.6(ACADM):c.6A>C (p.Ala2=) rs752190688 0.00002
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG rs1555527381 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys) rs557260142 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) rs746501563 0.00002
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000038.6(APC):c.1538T>C (p.Val513Ala) rs876658167 0.00002
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) rs760999992 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000039.3(APOA1):c.127G>A (p.Val43Met) rs373545875 0.00002
NM_000039.3(APOA1):c.168G>A (p.Gln56=) rs760886281 0.00002
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000043.6(FAS):c.943C>T (p.Leu315Phe) rs1475820915 0.00002
NM_000044.6(AR):c.7G>A (p.Val3Met) rs778912582 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys) rs587780619 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn) rs764564211 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg) rs587782001 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala) rs532864884 0.00002
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) rs775080615 0.00002
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) rs753045361 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu) rs374924611 0.00002
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr) rs199821965 0.00002
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe) rs747598704 0.00002
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe) rs876660249 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000064.4(C3):c.283G>A (p.Glu95Lys) rs746332934 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3647-13A>G rs760807491 0.00002
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu) rs368362113 0.00002
NM_000066.4(C8B):c.1606G>A (p.Val536Ile) rs377623911 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu) rs758712880 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) rs746767761 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=) rs753455668 0.00002
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile) rs769039976 0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys) rs863223362 0.00002
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) rs369494336 0.00002
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr) rs932369090 0.00002
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln) rs753589858 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=) rs748004604 0.00002
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=) rs751356130 0.00002
NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu) rs759579342 0.00002
NM_000091.5(COL4A3):c.2535del (p.Leu846fs) rs993103826 0.00002
NM_000091.5(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) rs764451365 0.00002
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) rs371173786 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000092.5(COL4A4):c.-1G>A rs780102207 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.1987+8T>A rs780277266 0.00002
NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn) rs201181725 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu) rs372413045 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723 0.00002
NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu) rs542384685 0.00002
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=) rs371571953 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=) rs773201784 0.00002
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His) rs189206728 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu) rs200551525 0.00002
NM_000094.4(COL7A1):c.7104+1G>A rs772756089 0.00002
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly) rs780436492 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu) rs767530116 0.00002
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.654C>T (p.Val218=) rs375350911 0.00002
NM_000103.4(CYP19A1):c.297-1G>C rs768157788 0.00002
NM_000110.4(DPYD):c.545T>A (p.Met182Lys) rs779728902 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) rs199934696 0.00002
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00002
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482 0.00002
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) rs748005916 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1566+6C>G rs886939126 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) rs780295697 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) rs775960094 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00002
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) rs369565161 0.00002
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480 0.00002
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) rs752245802 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) rs752339229 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000137.4(FAH):c.341C>T (p.Thr114Met) rs772014160 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn) rs749253325 0.00002
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly) rs752891726 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val) rs1183556572 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser) rs147584221 0.00002
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys) rs371103773 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu) rs371110611 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His) rs369888822 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000143.4(FH):c.352A>G (p.Asn118Asp) rs200738857 0.00002
NM_000143.4(FH):c.926C>T (p.Pro309Leu) rs756528378 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) rs143406263 0.00002
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile) rs1374541235 0.00002
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901 0.00002
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=) rs369272004 0.00002
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys) rs758039889 0.00002
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.122C>G (p.Thr41Ser) rs782362194 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr) rs587779254 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690 0.00002
NM_000179.3(MSH6):c.3801+14G>T rs755626529 0.00002
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000187.4(HGD):c.342+1G>T rs397515518 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00002
NM_000195.5(HPS1):c.1050G>T (p.Arg350Ser) rs748998125 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 0.00002
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) rs766474996 0.00002
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=) rs996323669 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000204.5(CFI):c.530A>T (p.Asn177Ile) rs753060374 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.773-3C>T rs375483832 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly) rs370112615 0.00002
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln) rs766336707 0.00002
NM_000214.3(JAG1):c.1309G>A (p.Asp437Asn) rs758876727 0.00002
NM_000214.3(JAG1):c.1329G>A (p.Met443Ile) rs547676061 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2372+13T>A rs768213112 0.00002
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00002
NM_000214.3(JAG1):c.2792C>T (p.Thr931Ile) rs368032094 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_000216.4(ANOS1):c.640C>G (p.Pro214Ala) rs138050192 0.00002
NM_000217.3(KCNA1):c.1170C>G (p.Ser390=) rs760496447 0.00002
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1795-10G>A rs780067234 0.00002
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=) rs758960211 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser) rs1422163809 0.00002
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) rs749957298 0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His) rs143772138 0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) rs139000082 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000237.3(LPL):c.885A>C (p.Glu295Asp) rs1041560952 0.00002
NM_000238.4(KCNH2):c.1071G>T (p.Glu357Asp) rs762016259 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=) rs1401248493 0.00002
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395 0.00002
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile) rs1197425750 0.00002
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr) rs199473014 0.00002
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) rs199473017 0.00002
NM_000238.4(KCNH2):c.3020G>A (p.Arg1007His) rs199473542 0.00002
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) rs950543448 0.00002
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.967G>A (p.Asp323Asn) rs199472887 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1759+12G>A rs749730274 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000243.3(MEFV):c.192G>A (p.Glu64=) rs547393490 0.00002
NM_000243.3(MEFV):c.199G>A (p.Val67Met) rs1422054832 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000249.4(MLH1):c.226G>A (p.Val76Ile) rs878853788 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000255.4(MMUT):c.912-14C>T rs200394018 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 0.00002
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) rs775837337 0.00002
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg) rs1185871136 0.00002
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=) rs367915627 0.00002
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=) rs768049705 0.00002
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys) rs397515939 0.00002
NM_000256.3(MYBPC3):c.2149-80G>A rs1041197781 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met) rs397515981 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) rs769018051 0.00002
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) rs754115924 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000257.4(MYH7):c.4953+14G>A rs758571263 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp) rs769112519 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) rs779557153 0.00002
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) rs751034678 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met) rs772406487 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000268.4(NF2):c.1447-11C>T rs571246532 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000271.5(NPC1):c.2598G>T (p.Met866Ile) rs1019159514 0.00002
NM_000271.5(NPC1):c.631+3A>G rs759746113 0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg) rs1388273402 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.441+15C>T rs187133779 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00002
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) rs142261953 0.00002
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys) rs773998492 0.00002
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys) rs774525905 0.00002
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn) rs370489860 0.00002
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala) rs1377684533 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000310.4(PPT1):c.628G>C (p.Gly210Arg) rs200434104 0.00002
NM_000311.5(PRNP):c.498G>A (p.Met166Ile) rs745480639 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000311.5(PRNP):c.636G>A (p.Gln212=) rs757784308 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) rs376049280 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000316.3(PTH1R):c.1198C>T (p.Arg400Trp) rs775797881 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110 0.00002
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115 0.00002
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=) rs376389170 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg) rs199473641 0.00002
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His) rs199473596 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr) rs199473330 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000337.6(SGCD):c.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) rs1486744140 0.00002
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu) rs781250971 0.00002
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000338.3(SLC12A1):c.421-15A>G rs148912103 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.371+19T>C rs752870085 0.00002
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly) rs780873643 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=) rs746978183 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000353.3(TAT):c.683G>C (p.Arg228Pro) rs554840029 0.00002
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe) rs369458782 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln) rs201487514 0.00002
NM_000361.3(THBD):c.415G>T (p.Ala139Ser) rs982068192 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) rs777782551 0.00002
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) rs201928445 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000376.3(VDR):c.1045G>A (p.Ala349Thr) rs774910763 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000379.4(XDH):c.1522C>T (p.Arg508Trp) rs778513905 0.00002
NM_000379.4(XDH):c.2027C>T (p.Pro676Leu) rs751442650 0.00002
NM_000379.4(XDH):c.3163C>G (p.Leu1055Val) rs756000543 0.00002
NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys) rs769346803 0.00002
NM_000379.4(XDH):c.545A>G (p.Asn182Ser) rs770109772 0.00002
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000384.3(APOB):c.11087T>C (p.Ile3696Thr) rs370096275 0.00002
NM_000384.3(APOB):c.11309T>G (p.Ile3770Ser) rs199954127 0.00002
NM_000384.3(APOB):c.11339C>T (p.Ala3780Val) rs755025293 0.00002
NM_000384.3(APOB):c.12698C>T (p.Ser4233Leu) rs377125320 0.00002
NM_000384.3(APOB):c.12779A>G (p.His4260Arg) rs781061676 0.00002
NM_000384.3(APOB):c.12851T>C (p.Phe4284Ser) rs750204106 0.00002
NM_000384.3(APOB):c.12890G>A (p.Arg4297His) rs375701380 0.00002
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr) rs778174655 0.00002
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr) rs374389311 0.00002
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu) rs747520197 0.00002
NM_000384.3(APOB):c.2203G>A (p.Val735Met) rs542107305 0.00002
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser) rs748256431 0.00002
NM_000384.3(APOB):c.2999+8A>G rs752443893 0.00002
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly) rs368122382 0.00002
NM_000384.3(APOB):c.3676G>A (p.Val1226Met) rs138681343 0.00002
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys) rs199966747 0.00002
NM_000384.3(APOB):c.3935T>C (p.Met1312Thr) rs763989940 0.00002
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly) rs769694008 0.00002
NM_000384.3(APOB):c.4260A>C (p.Leu1420=) rs753403908 0.00002
NM_000384.3(APOB):c.4279C>T (p.Arg1427Cys) rs759979553 0.00002
NM_000384.3(APOB):c.4724A>G (p.Asn1575Ser) rs777879292 0.00002
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu) rs146341569 0.00002
NM_000384.3(APOB):c.4928C>T (p.Ala1643Val) rs1008238083 0.00002
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser) rs372282063 0.00002
NM_000384.3(APOB):c.544G>A (p.Val182Met) rs769838164 0.00002
NM_000384.3(APOB):c.5580G>T (p.Gln1860His) rs199585500 0.00002
NM_000384.3(APOB):c.7727G>A (p.Arg2576His) rs759057929 0.00002
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn) rs754332101 0.00002
NM_000384.3(APOB):c.9933A>G (p.Arg3311=) rs760815948 0.00002
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) rs761448855 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) rs751704816 0.00002
NM_000392.5(ABCC2):c.2755T>A (p.Ser919Thr) rs775944091 0.00002
NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile) rs374311166 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584 0.00002
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser) rs563638833 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) rs376917587 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) rs752456288 0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs) rs1240421230 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) rs773244112 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000463.3(UGT1A1):c.72G>A (p.Val24=) rs764918207 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741 0.00002
NM_000465.4(BARD1):c.82C>A (p.Pro28Thr) rs770702450 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.1437C>T (p.Tyr479=) rs527657489 0.00002
NM_000478.6(ALPL):c.241C>T (p.Pro81Ser) rs915866721 0.00002
NM_000478.6(ALPL):c.26C>T (p.Ala9Val) rs772679576 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.863-8C>T rs775518662 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000486.6(AQP2):c.360+1G>A rs745861885 0.00002
NM_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 0.00002
NM_000487.6(ARSA):c.12G>A (p.Gly4=) rs1160649029 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp) rs751474685 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) rs765770519 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly) rs770281644 0.00002
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574 0.00002
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=) rs760329766 0.00002
NM_000498.3(CYP11B2):c.996G>C (p.Arg332=) rs781061958 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp) rs763976533 0.00002
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln) rs754849970 0.00002
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr) rs376338203 0.00002
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=) rs201296563 0.00002
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr) rs777478644 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His) rs758651267 0.00002
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu) rs774414325 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly) rs1328605630 0.00002
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val) rs369932139 0.00002
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp) rs377667641 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys) rs201147958 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser) rs773211015 0.00002
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met) rs751728775 0.00002
NM_000540.3(RYR1):c.2787-16A>G rs998030731 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) rs773926353 0.00002
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His) rs750256869 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.424+4C>A rs772775579 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile) rs767230160 0.00002
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys) rs1041070277 0.00002
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp) rs772164452 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His) rs768343466 0.00002
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser) rs146326299 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val) rs757228479 0.00002
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn) rs765571437 0.00002
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr) rs1020896447 0.00002
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr) rs141764906 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000548.5(TSC2):c.1113G>C (p.Gln371His) rs571767462 0.00002
NM_000548.5(TSC2):c.1119+6G>C rs397515305 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847 0.00002
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00002
NM_000548.5(TSC2):c.2098-18C>T rs1246072517 0.00002
NM_000548.5(TSC2):c.2967-15G>A rs375423568 0.00002
NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser) rs758690821 0.00002
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg) rs747910305 0.00002
NM_000548.5(TSC2):c.3284+11C>A rs769334480 0.00002
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr) rs993614997 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=) rs757244510 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.5161-8G>A rs374674097 0.00002
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=) rs753336580 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=) rs982803529 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.976-16C>T rs773016098 0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) rs1236604706 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000574.5(CD55):c.286+2T>G rs752360687 0.00002
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly) rs1245795149 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_000642.3(AGL):c.966G>A (p.Arg322=) rs199905460 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_000685.5(AGTR1):c.113T>C (p.Ile38Thr) rs751575775 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala) rs369884505 0.00002
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln) rs764212214 0.00002
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220 0.00002
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 0.00002
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=) rs1337662531 0.00002
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000743.5(CHRNA3):c.459C>T (p.Ala153=) rs202207061 0.00002
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser) rs1043176387 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000789.4(ACE):c.1510C>T (p.Pro504Ser) rs778204413 0.00002
NM_000789.4(ACE):c.22C>T (p.Arg8Trp) rs1333116255 0.00002
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) rs397514689 0.00002
NM_000789.4(ACE):c.249+15C>G rs1392845930 0.00002
NM_000789.4(ACE):c.2585G>A (p.Arg862His) rs756018518 0.00002
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser) rs759836961 0.00002
NM_000834.5(GRIN2B):c.3647G>A (p.Arg1216His) rs757636470 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000860.6(HPGD):c.*157A>G rs886059252 0.00002
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp) rs747314543 0.00002
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg) rs745968243 0.00002
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys) rs781011854 0.00002
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile) rs749202931 0.00002
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys) rs777592481 0.00002
NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) rs1330903694 0.00002
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr) rs754966145 0.00002
NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln) rs750499474 0.00002
NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro) rs370393309 0.00002
NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr) rs144373119 0.00002
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu) rs766566496 0.00002
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp) rs537046857 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile) rs759654427 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.9713-17C>G rs766238514 0.00002
NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=) rs367879956 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser) rs142238966 0.00002
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu) rs751027444 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly) rs369405673 0.00002
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) rs752815037 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg) rs746501818 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=) rs376703708 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160 0.00002
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_001029896.2(WDR45):c.254C>T (p.Ala85Val) rs41310595 0.00002
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) rs773252606 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=) rs368634803 0.00002
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895 0.00002
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu) rs759830423 0.00002
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) rs1386632671 0.00002
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly) rs748492817 0.00002
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys) rs754181384 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_001035.3(RYR2):c.4161-5T>C rs1416816823 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys) rs749184443 0.00002
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys) rs1224597817 0.00002
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) rs780681855 0.00002
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr) rs142498105 0.00002
NM_001035.3(RYR2):c.782A>G (p.His261Arg) rs577416427 0.00002
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=) rs751520306 0.00002
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) rs981753891 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn) rs1060500168 0.00002
NM_001037.5(SCN1B):c.*378G>A rs1462739595 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001037333.3(CYFIP2):c.1299A>G (p.Glu433=) rs372259482 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp) rs771692758 0.00002
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln) rs375545539 0.00002
NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser) rs781244975 0.00002
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105 0.00002
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) rs1030212351 0.00002
NM_001041.4(SI):c.1303C>T (p.Arg435Cys) rs370325800 0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro) rs755487744 0.00002
NM_001041.4(SI):c.3888+12G>A rs766861562 0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val) rs775308282 0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln) rs143135955 0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=) rs780057549 0.00002
NM_001042413.2(GLIS3):c.2681C>T (p.Ser894Leu) rs202168959 0.00002
NM_001042413.2(GLIS3):c.2705G>A (p.Arg902His) rs772126214 0.00002
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter) rs753993867 0.00002
NM_001042413.2(GLIS3):c.950A>G (p.Asn317Ser) rs201716083 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=) rs747330799 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.587-20A>T rs776533188 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.7615+7T>C rs779078444 0.00002
NM_001042492.3(NF1):c.8160+9A>C rs997202389 0.00002
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=) rs144635489 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001046.3(SLC12A2):c.2475+11A>G rs763550873 0.00002
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) rs373803765 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys) rs1054331 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) rs757795544 0.00002
NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) rs768158277 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln) rs775817146 0.00002
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg) rs749184815 0.00002
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) rs765561257 0.00002
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His) rs530758620 0.00002
NM_001080517.3(SETD5):c.1591C>T (p.Arg531Trp) rs1197285773 0.00002
NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr) rs568483869 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His) rs750005344 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala) rs774646647 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001099922.3(ALG13):c.886-19A>G rs773121084 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001105206.3(LAMA4):c.1808A>T (p.Glu603Val) rs781829812 0.00002
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly) rs112884471 0.00002
NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val) rs376091454 0.00002
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe) rs369776441 0.00002
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser) rs374279330 0.00002
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly) rs1554332964 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp) rs782550866 0.00002
NM_001105206.3(LAMA4):c.4183G>A (p.Val1395Ile) rs782627670 0.00002
NM_001105206.3(LAMA4):c.475G>A (p.Glu159Lys) rs540626879 0.00002
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met) rs149555058 0.00002
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys) rs587753056 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.197G>A (p.Arg66His) rs779515039 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186 0.00002
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) rs922792253 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) rs751222800 0.00002
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) rs1435589915 0.00002
NM_001113378.2(FANCI):c.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859 0.00002
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402 0.00002
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164 0.00002
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176 0.00002
NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser) rs1006764386 0.00002
NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro) rs779230735 0.00002
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) rs1313448533 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) rs780433336 0.00002
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=) rs762500731 0.00002
NM_001126108.2(SLC12A3):c.2419+8G>A rs372318235 0.00002
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) rs750735794 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn) rs369783485 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001128225.3(SLC39A13):c.302-7C>G rs746687344 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu) rs758865477 0.00002
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) rs767308840 0.00002
NM_001130823.3(DNMT1):c.3394+4C>T rs781376510 0.00002
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456 0.00002
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met) rs570860273 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln) rs957111625 0.00002
NM_001130987.2(DYSF):c.785G>A (p.Arg262His) rs764849844 0.00002
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn) rs950210735 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly) rs899167549 0.00002
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=) rs1481403925 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu) rs977645949 0.00002
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn) rs777684328 0.00002
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu) rs201698049 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001136193.2(FASTKD2):c.1063A>G (p.Met355Val) rs766550165 0.00002
NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=) rs151258385 0.00002
NM_001136193.2(FASTKD2):c.62C>T (p.Ala21Val) rs549677418 0.00002
NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) rs202102918 0.00002
NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) rs368819721 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser) rs750904267 0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr) rs995862502 0.00002
NM_001144967.3(NEDD4L):c.1316C>T (p.Pro439Leu) rs775630982 0.00002
NM_001144967.3(NEDD4L):c.1457A>G (p.Asn486Ser) rs965302278 0.00002
NM_001144967.3(NEDD4L):c.1575+13C>T rs747040965 0.00002
NM_001144967.3(NEDD4L):c.1768-12T>C rs938358563 0.00002
NM_001144967.3(NEDD4L):c.1882T>A (p.Phe628Ile) rs1477791039 0.00002
NM_001144967.3(NEDD4L):c.2202A>G (p.Pro734=) rs1394230991 0.00002
NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe) rs775922627 0.00002
NM_001144967.3(NEDD4L):c.2873G>A (p.Arg958Gln) rs777624478 0.00002
NM_001144967.3(NEDD4L):c.740G>A (p.Arg247Gln) rs747072217 0.00002
NM_001148.6(ANK2):c.10231A>T (p.Thr3411Ser) rs1192955452 0.00002
NM_001148.6(ANK2):c.11134G>A (p.Val3712Ile) rs146476345 0.00002
NM_001148.6(ANK2):c.11225C>T (p.Pro3742Leu) rs753748906 0.00002
NM_001148.6(ANK2):c.11326A>G (p.Thr3776Ala) rs746620876 0.00002
NM_001148.6(ANK2):c.11616C>T (p.Asp3872=) rs768755447 0.00002
NM_001148.6(ANK2):c.11825G>A (p.Arg3942His) rs542400709 0.00002
NM_001148.6(ANK2):c.1613C>T (p.Ala538Val) rs753139159 0.00002
NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala) rs761413864 0.00002
NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro) rs1178600130 0.00002
NM_001148.6(ANK2):c.2761G>A (p.Val921Met) rs777302517 0.00002
NM_001148.6(ANK2):c.2869G>A (p.Val957Met) rs756861229 0.00002
NM_001148.6(ANK2):c.2945G>A (p.Arg982Gln) rs769214999 0.00002
NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln) rs373261456 0.00002
NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys) rs773701459 0.00002
NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile) rs1468122749 0.00002
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro) rs763795429 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) rs147547363 0.00002
NM_001148.6(ANK2):c.6100G>A (p.Gly2034Arg) rs764677814 0.00002
NM_001148.6(ANK2):c.6632C>T (p.Ala2211Val) rs567825537 0.00002
NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp) rs764841248 0.00002
NM_001148.6(ANK2):c.7244G>A (p.Ser2415Asn) rs749832637 0.00002
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys) rs756424757 0.00002
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys) rs371343942 0.00002
NM_001148.6(ANK2):c.9681C>T (p.Thr3227=) rs144466117 0.00002
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) rs1230410861 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) rs944015667 0.00002
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) rs749017755 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) rs769753486 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) rs72653791 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) rs146284800 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) rs141731889 0.00002
NM_001171.6(ABCC6):c.3882+5G>A rs774245200 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys) rs199738980 0.00002
NM_001177316.2(SLC34A3):c.1324A>G (p.Ser442Gly) rs773903138 0.00002
NM_001177316.2(SLC34A3):c.140T>A (p.Leu47His) rs757815865 0.00002
NM_001177316.2(SLC34A3):c.1505C>T (p.Ala502Val) rs571107918 0.00002
NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp) rs759826596 0.00002
NM_001177316.2(SLC34A3):c.988G>A (p.Gly330Ser) rs369211663 0.00002
NM_001195305.3(BBIP1):c.37+3A>T rs1247299009 0.00002
NM_001197104.2(KMT2A):c.3635-7C>T rs782489094 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr) rs200612957 0.00002
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln) rs755314585 0.00002
NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) rs778093557 0.00002
NM_001204.7(BMPR2):c.1586G>A (p.Arg529His) rs752615120 0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 0.00002
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) rs191754224 0.00002
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) rs1024570390 0.00002
NM_001243133.2(NLRP3):c.219C>T (p.Phe73=) rs201980166 0.00002
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) rs759466218 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=) rs200474558 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys) rs374011613 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=) rs200986371 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) rs758738833 0.00002
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter) rs770403610 0.00002
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu) rs368894429 0.00002
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg) rs1296387134 0.00002
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu) rs1467698015 0.00002
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro) rs1437743604 0.00002
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His) rs561869617 0.00002
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp) rs962181882 0.00002
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His) rs368063908 0.00002
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe) rs772718460 0.00002
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu) rs753984036 0.00002
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His) rs770904787 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe) rs950902715 0.00002
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser) rs765523683 0.00002
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.1332C>T (p.Ser444=) rs759520186 0.00002
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val) rs763092484 0.00002
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly) rs369989679 0.00002
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp) rs371044267 0.00002
NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val) rs879144126 0.00002
NM_001267550.2(TTN):c.1694C>T (p.Ser565Phe) rs762175397 0.00002
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser) rs375003845 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr) rs979110143 0.00002
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn) rs397517511 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr) rs746470885 0.00002
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe) rs748483786 0.00002
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val) rs770782767 0.00002
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile) rs537805395 0.00002
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr) rs781737736 0.00002
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His) rs759347532 0.00002
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673 0.00002
NM_001267550.2(TTN):c.343G>A (p.Val115Met) rs564777385 0.00002
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) rs368157806 0.00002
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val) rs375391365 0.00002
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr) rs1393138345 0.00002
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His) rs756874306 0.00002
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu) rs768872042 0.00002
NM_001267550.2(TTN):c.36281-13A>T rs751095834 0.00002
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu) rs371317962 0.00002
NM_001267550.2(TTN):c.36532+13G>A rs758624046 0.00002
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr) rs397517553 0.00002
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) rs202240398 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=) rs376851369 0.00002
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys) rs140795503 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.46631G>A (p.Arg15544His) rs772760901 0.00002
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671 0.00002
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp) rs369623681 0.00002
NM_001267550.2(TTN):c.50399A>C (p.Lys16800Thr) rs959185764 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys) rs375966756 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356 0.00002
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=) rs368972275 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu) rs769129424 0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=) rs753118050 0.00002
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr) rs752768925 0.00002
NM_001267550.2(TTN):c.60815C>T (p.Pro20272Leu) rs760277470 0.00002
NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn) rs878925775 0.00002
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu) rs767322897 0.00002
NM_001267550.2(TTN):c.63793+9del rs771033923 0.00002
NM_001267550.2(TTN):c.6414A>G (p.Ile2138Met) rs368391123 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg) rs145585333 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys) rs760487688 0.00002
NM_001267550.2(TTN):c.77902G>A (p.Glu25968Lys) rs756933390 0.00002
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) rs912454417 0.00002
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr) rs749600987 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys) rs748215561 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=) rs1211159517 0.00002
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val) rs886042586 0.00002
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) rs757653038 0.00002
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala) rs369907507 0.00002
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp) rs754025981 0.00002
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys) rs757848764 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.88826G>A (p.Arg29609Gln) rs758876816 0.00002
NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu) rs764695663 0.00002
NM_001267550.2(TTN):c.88955T>C (p.Val29652Ala) rs748609330 0.00002
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser) rs773875566 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.89965A>G (p.Ser29989Gly) rs1225946550 0.00002
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591 0.00002
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp) rs773600127 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) rs201377736 0.00002
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met) rs140081451 0.00002
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr) rs141357723 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.95953G>A (p.Val31985Ile) rs373484878 0.00002
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn) rs1385851793 0.00002
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser) rs374521620 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly) rs776406819 0.00002
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) rs144900708 0.00002
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn) rs750251384 0.00002
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1082-10G>A rs772238679 0.00002
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala) rs771622323 0.00002
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys) rs747458336 0.00002
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr) rs374965869 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.717C>T (p.Asn239=) rs142247490 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=) rs567813801 0.00002
NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp) rs764988673 0.00002
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn) rs764376521 0.00002
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=) rs756127892 0.00002
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) rs775357974 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.695+11G>A rs201826759 0.00002
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) rs777697759 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala) rs776717020 0.00002
NM_001330588.2(TPP2):c.2027C>T (p.Thr676Ile) rs760347832 0.00002
NM_001348768.2(HECW2):c.2242G>C (p.Ala748Pro) rs370869751 0.00002
NM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg) rs185471985 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001354604.2(MITF):c.726G>C (p.Leu242Phe) rs200287806 0.00002
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val) rs1233395596 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 0.00002
NM_001358921.2(COQ2):c.831G>A (p.Pro277=) rs757390151 0.00002
NM_001358921.2(COQ2):c.885G>A (p.Val295=) rs533968602 0.00002
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.279G>A (p.Thr93=) rs774554996 0.00002
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val) rs886044698 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001363118.2(SLC52A2):c.1118T>G (p.Val373Gly) rs200245353 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) rs747720952 0.00002
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His) rs780262611 0.00002
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg) rs769697590 0.00002
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly) rs749055881 0.00002
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His) rs773612193 0.00002
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg) rs763407660 0.00002
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195 0.00002
NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys) rs372311962 0.00002
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) rs377476830 0.00002
NM_001367561.1(DOCK7):c.800T>C (p.Val267Ala) rs749548343 0.00002
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn) rs371453794 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934 0.00002
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp) rs1046929915 0.00002
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn) rs147283871 0.00002
NM_001370595.2(COA8):c.433G>A (p.Glu145Lys) rs562472810 0.00002
NM_001370595.2(COA8):c.81T>C (p.Ala27=) rs1268847789 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_001372066.1(TFAP2A):c.103A>G (p.Thr35Ala) rs9368354 0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser) rs774509236 0.00002
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val) rs775825001 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377304.1(GFI1B):c.551G>A (p.Arg184His) rs570058270 0.00002
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) rs759990854 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr) rs199872225 0.00002
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=) rs762899971 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=) rs45630561 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val) rs377523400 0.00002
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp) rs543346172 0.00002
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His) rs751862434 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser) rs752828644 0.00002
NM_001378454.1(ALMS1):c.1252A>G (p.Lys418Glu) rs760066942 0.00002
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile) rs772068213 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=) rs761599987 0.00002
NM_001378454.1(ALMS1):c.2753C>G (p.Ser918Cys) rs369228801 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile) rs778965893 0.00002
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=) rs773852068 0.00002
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067 0.00002
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=) rs761902133 0.00002
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr) rs757356524 0.00002
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=) rs1222275039 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly) rs751940353 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=) rs1328459312 0.00002
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124 0.00002
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His) rs770579229 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg) rs1718235188 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) rs760907112 0.00002
NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met) rs758625358 0.00002
NM_001379500.1(COL18A1):c.1720G>A (p.Gly574Ser) rs1357428784 0.00002
NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg) rs767150342 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser) rs556312555 0.00002
NM_001384479.1(AGT):c.380C>T (p.Pro127Leu) rs1173238921 0.00002
NM_001384479.1(AGT):c.952G>C (p.Asp318His) rs151194891 0.00002
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp) rs1204605921 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) rs1420586506 0.00002
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) rs535811932 0.00002
NM_001384732.1(CPLANE1):c.3508-19A>G rs754906346 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) rs761691903 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.5738-5G>A rs570312147 0.00002
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met) rs141126113 0.00002
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) rs371324866 0.00002
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) rs750897841 0.00002
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) rs779569678 0.00002
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) rs922260468 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile) rs778535345 0.00002
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser) rs1031265089 0.00002
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys) rs757969015 0.00002
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val) rs762793681 0.00002
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg) rs769586047 0.00002
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp) rs369842920 0.00002
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr) rs768737324 0.00002
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser) rs150986092 0.00002
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=) rs955205184 0.00002
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln) rs368662317 0.00002
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys) rs750686083 0.00002
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln) rs201762568 0.00002
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001692.4(ATP6V1B1):c.1228G>C (p.Gly410Arg) rs782554600 0.00002
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=) rs781880491 0.00002
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=) rs1045132687 0.00002
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581 0.00002
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_001735.3(C5):c.1716+7C>G rs764673418 0.00002
NM_001735.3(C5):c.2177A>G (p.Lys726Arg) rs369235335 0.00002
NM_001735.3(C5):c.2206A>G (p.Ser736Gly) rs778780304 0.00002
NM_001735.3(C5):c.2491T>C (p.Tyr831His) rs1352441352 0.00002
NM_001735.3(C5):c.314A>C (p.Glu105Ala) rs754822238 0.00002
NM_001735.3(C5):c.4162+20C>T rs56094365 0.00002
NM_001735.3(C5):c.4693A>G (p.Ile1565Val) rs375352964 0.00002
NM_001783.4(CD79A):c.535G>A (p.Gly179Arg) rs782714583 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_001845.6(COL4A1):c.1381+8A>G rs1054421900 0.00002
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) rs747214508 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=) rs576690537 0.00002
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.4929-10C>T rs369534245 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001853.4(COL9A3):c.577-20G>A rs928285792 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_001905.4(CTPS1):c.1379A>G (p.Lys460Arg) rs568672601 0.00002
NM_001909.5(CTSD):c.717G>A (p.Ala239=) rs368699900 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys) rs766843045 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_001963.6(EGF):c.1480C>T (p.Arg494Ter) rs753726274 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002055.5(GFAP):c.504C>A (p.Asn168Lys) rs745894599 0.00002
NM_002067.5(GNA11):c.592A>C (p.Asn198His) rs768371546 0.00002
NM_002067.5(GNA11):c.605+5C>T rs759838121 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) rs772381732 0.00002
NM_002087.4(GRN):c.530G>A (p.Arg177His) rs753441122 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002185.5(IL7R):c.221+2T>G rs200044623 0.00002
NM_002204.4(ITGA3):c.1538-4G>A rs746140749 0.00002
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp) rs760006172 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002234.4(KCNA5):c.1282C>T (p.Gln428Ter) rs377498745 0.00002
NM_002234.4(KCNA5):c.398C>A (p.Thr133Lys) rs781073587 0.00002
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) rs764034536 0.00002
NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg) rs770453248 0.00002
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) rs939420346 0.00002
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) rs374746230 0.00002
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_002246.3(KCNK3):c.1093G>A (p.Gly365Arg) rs768903706 0.00002
NM_002246.3(KCNK3):c.1162A>G (p.Met388Val) rs924076295 0.00002
NM_002246.3(KCNK3):c.202C>T (p.Arg68Cys) rs1025063325 0.00002
NM_002246.3(KCNK3):c.618G>A (p.Val206=) rs536179160 0.00002
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg) rs749901949 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) rs866448113 0.00002
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys) rs766396792 0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) rs763101025 0.00002
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln) rs201235061 0.00002
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) rs753039246 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) rs377526198 0.00002
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln) rs533452341 0.00002
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) rs752674803 0.00002
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp) rs763067343 0.00002
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp) rs147986864 0.00002
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) rs776647803 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.1801+9G>A rs747941034 0.00002
NM_002335.4(LRP5):c.1923C>T (p.Ile641=) rs17848264 0.00002
NM_002335.4(LRP5):c.2022C>T (p.Val674=) rs748257457 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3606T>C (p.His1202=) rs779308864 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=) rs1036528598 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) rs17848257 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=) rs777923928 0.00002
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser) rs587780766 0.00002
NM_002386.4(MC1R):c.583T>G (p.Phe195Val) rs377580634 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) rs778424803 0.00002
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00002
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp) rs1271657601 0.00002
NM_002471.4(MYH6):c.1325C>T (p.Thr442Met) rs757040426 0.00002
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr) rs188023690 0.00002
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr) rs397516756 0.00002
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) rs369366244 0.00002
NM_002471.4(MYH6):c.212T>C (p.Val71Ala) rs769686237 0.00002
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala) rs763963623 0.00002
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) rs754260713 0.00002
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr) rs989813600 0.00002
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys) rs774144472 0.00002
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn) rs758449996 0.00002
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=) rs573242724 0.00002
NM_002471.4(MYH6):c.3481G>A (p.Val1161Met) rs762230455 0.00002
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val) rs765797952 0.00002
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) rs144761217 0.00002
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile) rs768398107 0.00002
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) rs752658033 0.00002
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln) rs139265690 0.00002
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp) rs374022661 0.00002
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu) rs536807961 0.00002
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr) rs754736798 0.00002
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys) rs397516772 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 0.00002
NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met) rs747585087 0.00002
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val) rs767096302 0.00002
NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys) rs371607892 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter) rs763914096 0.00002
NM_002471.4(MYH6):c.704A>G (p.Lys235Arg) rs544293019 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg) rs777426396 0.00002
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser) rs760793367 0.00002
NM_002474.3(MYH11):c.2082G>A (p.Leu694=) rs370934806 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865 0.00002
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) rs534384552 0.00002
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) rs202004234 0.00002
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys) rs758102556 0.00002
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) rs151101824 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp) rs759409339 0.00002
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348 0.00002
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) rs756025504 0.00002
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys) rs757542362 0.00002
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) rs1443593366 0.00002
NM_002474.3(MYH11):c.5C>T (p.Ala2Val) rs150600829 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys) rs1556296540 0.00002
NM_002661.5(PLCG2):c.127G>A (p.Val43Ile) rs370352962 0.00002
NM_002661.5(PLCG2):c.1437G>A (p.Gly479=) rs755597785 0.00002
NM_002661.5(PLCG2):c.1733+11C>T rs750585339 0.00002
NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly) rs776632754 0.00002
NM_002661.5(PLCG2):c.1935-4G>A rs762488045 0.00002
NM_002661.5(PLCG2):c.246C>T (p.Phe82=) rs771764012 0.00002
NM_002661.5(PLCG2):c.2740-13G>A rs1280371637 0.00002
NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=) rs755927399 0.00002
NM_002661.5(PLCG2):c.3199-16C>T rs201410855 0.00002
NM_002661.5(PLCG2):c.3380C>G (p.Pro1127Arg) rs369259797 0.00002
NM_002661.5(PLCG2):c.3458A>G (p.Tyr1153Cys) rs146175110 0.00002
NM_002661.5(PLCG2):c.3544G>A (p.Val1182Ile) rs759887275 0.00002
NM_002661.5(PLCG2):c.3742A>C (p.Lys1248Gln) rs867313284 0.00002
NM_002661.5(PLCG2):c.3755G>C (p.Arg1252Thr) rs748492148 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala) rs201212113 0.00002
NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu) rs1471359934 0.00002
NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter) rs768048535 0.00002
NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met) rs772397517 0.00002
NM_002691.4(POLD1):c.376C>T (p.Arg126Cys) rs864622753 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002838.5(PTPRC):c.248C>T (p.Thr83Ile) rs375051221 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe) rs780478776 0.00002
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp) rs756061176 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) rs750441217 0.00002
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563 0.00002
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp) rs753453677 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=) rs1431971523 0.00002
NM_003072.5(SMARCA4):c.4424+6C>T rs778283753 0.00002
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His) rs766422429 0.00002
NM_003098.3(SNTA1):c.1106G>A (p.Arg369His) rs1012069434 0.00002
NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) rs754648214 0.00002
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) rs373387978 0.00002
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) rs771369802 0.00002
NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg) rs188835994 0.00002
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) rs886039012 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu) rs779370807 0.00002
NM_003114.5(SPAG1):c.1730G>A (p.Arg577Gln) rs774918839 0.00002
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) rs768423844 0.00002
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_003356.4(UCP3):c.274G>A (p.Ala92Thr) rs192655642 0.00002
NM_003361.4(UMOD):c.1459G>A (p.Val487Met) rs375158769 0.00002
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln) rs780358900 0.00002
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu) rs200473249 0.00002
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) rs751927256 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_003392.7(WNT5A):c.1005C>T (p.Cys335=) rs762576376 0.00002
NM_003401.5(XRCC4):c.943G>A (p.Glu315Lys) rs780229187 0.00002
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) rs377066670 0.00002
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln) rs762541995 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln) rs368207952 0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys) rs758712291 0.00002
NM_003611.3(OFD1):c.2022C>A (p.His674Gln) rs759693810 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val) rs770614769 0.00002
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala) rs770333327 0.00002
NM_003640.5(ELP1):c.1141G>A (p.Val381Met) rs769108524 0.00002
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe) rs745948468 0.00002
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp) rs200397694 0.00002
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser) rs201601641 0.00002
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) rs370041985 0.00002
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) rs191464698 0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.2587+10C>T rs771045250 0.00002
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) rs763312635 0.00002
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) rs750563722 0.00002
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala) rs147069577 0.00002
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751 0.00002
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) rs367582146 0.00002
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) rs201168521 0.00002
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro) rs558588647 0.00002
NM_003640.5(ELP1):c.447T>C (p.His149=) rs775602185 0.00002
NM_003640.5(ELP1):c.866T>C (p.Val289Ala) rs890474380 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003673.4(TCAP):c.267G>A (p.Leu89=) rs1419129039 0.00002
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003737.4(DCHS1):c.6599A>C (p.Gln2200Pro) rs1030713981 0.00002
NM_003737.4(DCHS1):c.8449G>C (p.Ala2817Pro) rs909978688 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00002
NM_003982.4(SLC7A7):c.1429+8G>A rs201766738 0.00002
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu) rs998787372 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr) rs1005993109 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val) rs367748290 0.00002
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg) rs1216968523 0.00002
NM_004006.3(DMD):c.11015-5T>A rs753104670 0.00002
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala) rs768016083 0.00002
NM_004006.3(DMD):c.1463G>A (p.Arg488His) rs794727065 0.00002
NM_004006.3(DMD):c.1536C>A (p.His512Gln) rs776446238 0.00002
NM_004006.3(DMD):c.2233C>G (p.Pro745Ala) rs1435295333 0.00002
NM_004006.3(DMD):c.2726C>T (p.Ala909Val) rs370014420 0.00002
NM_004006.3(DMD):c.2842A>G (p.Met948Val) rs186628781 0.00002
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val) rs780896933 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr) rs1448639542 0.00002
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly) rs759820971 0.00002
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile) rs757160024 0.00002
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe) rs398123975 0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) rs377039314 0.00002
NM_004006.3(DMD):c.6787C>T (p.Arg2263Cys) rs200045725 0.00002
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp) rs759274835 0.00002
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln) rs771509836 0.00002
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp) rs757011771 0.00002
NM_004006.3(DMD):c.772C>A (p.Pro258Thr) rs773066825 0.00002
NM_004048.4(B2M):c.278C>A (p.Thr93Asn) rs778103494 0.00002
NM_004064.5(CDKN1B):c.20C>G (p.Ser7Cys) rs368157535 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) rs200584793 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625 0.00002
NM_004168.4(SDHA):c.809A>T (p.His270Leu) rs1381228775 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_004252.5(NHERF1):c.425A>G (p.Lys142Arg) rs1381259383 0.00002
NM_004252.5(NHERF1):c.85C>A (p.His29Asn) rs765897805 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004281.4(BAG3):c.-155C>G rs963964101 0.00002
NM_004281.4(BAG3):c.1239C>T (p.Ala413=) rs201137108 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser) rs760699965 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004281.4(BAG3):c.897C>T (p.Val299=) rs763915884 0.00002
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly) rs778332463 0.00002
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108 0.00002
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe) rs786202598 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser) rs184790106 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) rs781034991 0.00002
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=) rs368782176 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004371.4(COPA):c.331G>A (p.Ala111Thr) rs377473059 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys) rs757475450 0.00002
NM_004484.4(GPC3):c.175+12T>G rs765877667 0.00002
NM_004519.4(KCNQ3):c.1568+8C>T rs370337209 0.00002
NM_004525.3(LRP2):c.10790A>G (p.Asn3597Ser) rs777356886 0.00002
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=) rs370876114 0.00002
NM_004525.3(LRP2):c.10948C>A (p.Gln3650Lys) rs766032786 0.00002
NM_004525.3(LRP2):c.11416A>G (p.Thr3806Ala) rs373490312 0.00002
NM_004525.3(LRP2):c.13303G>A (p.Val4435Ile) rs751890334 0.00002
NM_004525.3(LRP2):c.13807A>G (p.Asn4603Asp) rs112842952 0.00002
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu) rs140802648 0.00002
NM_004525.3(LRP2):c.13853C>T (p.Ser4618Leu) rs142430940 0.00002
NM_004525.3(LRP2):c.13919A>T (p.Asp4640Val) rs760457856 0.00002
NM_004525.3(LRP2):c.1600G>C (p.Gly534Arg) rs781156096 0.00002
NM_004525.3(LRP2):c.22G>A (p.Val8Met) rs747080240 0.00002
NM_004525.3(LRP2):c.2782T>G (p.Phe928Val) rs200192222 0.00002
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=) rs750430784 0.00002
NM_004525.3(LRP2):c.427+18C>T rs775148958 0.00002
NM_004525.3(LRP2):c.535T>C (p.Cys179Arg) rs901055782 0.00002
NM_004525.3(LRP2):c.5458G>A (p.Val1820Met) rs753390400 0.00002
NM_004525.3(LRP2):c.5813C>T (p.Thr1938Ile) rs768756085 0.00002
NM_004525.3(LRP2):c.6541C>T (p.Arg2181Cys) rs759670096 0.00002
NM_004525.3(LRP2):c.6815G>A (p.Arg2272His) rs1244543854 0.00002
NM_004525.3(LRP2):c.698G>A (p.Arg233Gln) rs925251257 0.00002
NM_004525.3(LRP2):c.7060T>C (p.Ser2354Pro) rs761522865 0.00002
NM_004525.3(LRP2):c.7661G>A (p.Ser2554Asn) rs200633361 0.00002
NM_004525.3(LRP2):c.8000C>T (p.Ala2667Val) rs774660433 0.00002
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu) rs774369141 0.00002
NM_004525.3(LRP2):c.8581A>G (p.Thr2861Ala) rs763428791 0.00002
NM_004525.3(LRP2):c.8764G>A (p.Glu2922Lys) rs370790771 0.00002
NM_004525.3(LRP2):c.8831-16C>T rs775327679 0.00002
NM_004525.3(LRP2):c.8848G>T (p.Asp2950Tyr) rs770098442 0.00002
NM_004525.3(LRP2):c.8854G>A (p.Glu2952Lys) rs138894447 0.00002
NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr) rs1303301378 0.00002
NM_004525.3(LRP2):c.9032+6T>G rs368040043 0.00002
NM_004525.3(LRP2):c.9876T>C (p.Asp3292=) rs749452281 0.00002
NM_004553.6(NDUFS6):c.83T>A (p.Phe28Tyr) rs905716566 0.00002
NM_004560.4(ROR2):c.1154G>A (p.Arg385His) rs755135206 0.00002
NM_004560.4(ROR2):c.1399G>C (p.Glu467Gln) rs780576494 0.00002
NM_004560.4(ROR2):c.1771G>A (p.Asp591Asn) rs768175141 0.00002
NM_004560.4(ROR2):c.2206C>T (p.Arg736Trp) rs1329621652 0.00002
NM_004560.4(ROR2):c.2354G>A (p.Arg785His) rs368059807 0.00002
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) rs145213893 0.00002
NM_004560.4(ROR2):c.954C>T (p.Asn318=) rs553026289 0.00002
NM_004588.5(SCN2B):c.295G>A (p.Val99Met) rs772817742 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_004589.4(SCO1):c.203G>A (p.Ser68Asn) rs767557634 0.00002
NM_004589.4(SCO1):c.271G>A (p.Gly91Arg) rs753607085 0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.744C>T (p.Gly248=) rs768270136 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His) rs777715086 0.00002
NM_004621.6(TRPC6):c.1294-4G>A rs190191809 0.00002
NM_004621.6(TRPC6):c.2074G>A (p.Val692Ile) rs202219188 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) rs750212705 0.00002
NM_004629.2(FANCG):c.635C>T (p.Ala212Val) rs375754266 0.00002
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) rs549487912 0.00002
NM_004646.4(NPHS1):c.2394G>A (p.Thr798=) rs745911246 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys) rs376172729 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.841-12C>G rs532123637 0.00002
NM_004646.4(NPHS1):c.915C>T (p.Thr305=) rs751438123 0.00002
NM_004646.4(NPHS1):c.939G>A (p.Ala313=) rs775863701 0.00002
NM_004656.4(BAP1):c.340C>T (p.Arg114Cys) rs761048859 0.00002
NM_004656.4(BAP1):c.931+8G>A rs573724882 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2811C>T (p.Pro937=) rs751273061 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00002
NM_004836.7(EIF2AK3):c.1228A>G (p.Ser410Gly) rs777668213 0.00002
NM_004836.7(EIF2AK3):c.1370A>G (p.Asp457Gly) rs750810139 0.00002
NM_004836.7(EIF2AK3):c.2237T>C (p.Met746Thr) rs201662849 0.00002
NM_004836.7(EIF2AK3):c.2507A>T (p.Lys836Ile) rs200270016 0.00002
NM_004836.7(EIF2AK3):c.633+15T>C rs776777727 0.00002
NM_004836.7(EIF2AK3):c.845C>T (p.Thr282Ile) rs765112357 0.00002
NM_004836.7(EIF2AK3):c.913A>G (p.Ile305Val) rs769083965 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004937.3(CTNS):c.61+20G>A rs760019018 0.00002
NM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln) rs561644406 0.00002
NM_004944.4(DNASE1L3):c.448G>A (p.Val150Met) rs146805633 0.00002
NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp) rs375940461 0.00002
NM_004998.4(MYO1E):c.2334+5G>A rs374917616 0.00002
NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile) rs376817753 0.00002
NM_004998.4(MYO1E):c.433A>G (p.Ile145Val) rs749937776 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.7916G>A (p.Arg2639His) rs369735904 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005148.4(UNC119):c.353G>A (p.Arg118Gln) rs368608427 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.1927C>T (p.Leu643=) rs139939244 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) rs730880432 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr) rs770306507 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005378.6(MYCN):c.612C>T (p.Pro204=) rs767651526 0.00002
NM_005378.6(MYCN):c.854G>T (p.Arg285Leu) rs747134309 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn) rs909242045 0.00002
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys) rs763157740 0.00002
NM_005472.5(KCNE3):c.49G>A (p.Val17Met) rs773287275 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005477.3(HCN4):c.1401C>T (p.Tyr467=) rs753580737 0.00002
NM_005477.3(HCN4):c.1871G>A (p.Arg624Gln) rs763842368 0.00002
NM_005477.3(HCN4):c.2555C>T (p.Pro852Leu) rs779241036 0.00002
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu) rs769959023 0.00002
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser) rs778739758 0.00002
NM_005477.3(HCN4):c.2916C>T (p.Pro972=) rs559422705 0.00002
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg) rs1443227484 0.00002
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser) rs765099391 0.00002
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_005506.4(SCARB2):c.824+20G>A rs1257697437 0.00002
NM_005535.3(IL12RB1):c.1415G>A (p.Ser472Asn) rs369482167 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_005591.4(MRE11):c.1145G>C (p.Ser382Thr) rs745769023 0.00002
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln) rs587780134 0.00002
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu) rs587782166 0.00002
NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser) rs374685908 0.00002
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe) rs1311636142 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val) rs886041814 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005732.4(RAD50):c.1604G>A (p.Arg535His) rs200548021 0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452 0.00002
NM_005732.4(RAD50):c.217G>A (p.Ala73Thr) rs371122101 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) rs587780156 0.00002
NM_005751.5(AKAP9):c.11195G>A (p.Cys3732Tyr) rs752031242 0.00002
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu) rs61757668 0.00002
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr) rs371599265 0.00002
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) rs779232513 0.00002
NM_005751.5(AKAP9):c.3838-4A>G rs565812419 0.00002
NM_005751.5(AKAP9):c.3953-3T>C rs730880045 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_005751.5(AKAP9):c.547G>A (p.Val183Ile) rs750921440 0.00002
NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu) rs147876926 0.00002
NM_005751.5(AKAP9):c.7096A>G (p.Ile2366Val) rs368823780 0.00002
NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val) rs773105182 0.00002
NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val) rs905116504 0.00002
NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp) rs761783446 0.00002
NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln) rs141103974 0.00002
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys) rs190695638 0.00002
NM_005751.5(AKAP9):c.9182T>C (p.Leu3061Pro) rs761435123 0.00002
NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile) rs148442799 0.00002
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) rs773621375 0.00002
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr) rs770798158 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) rs767998582 0.00002
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) rs150394063 0.00002
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) rs563972671 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 0.00002
NM_006009.4(TUBA1A):c.859T>A (p.Ser287Thr) rs150978489 0.00002
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) rs969170076 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp) rs137977081 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006059.4(LAMC3):c.1524C>T (p.Ala508=) rs753711099 0.00002
NM_006059.4(LAMC3):c.1907G>A (p.Arg636His) rs753991024 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.931+10T>A rs754118635 0.00002
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006182.4(DDR2):c.2162A>G (p.Asn721Ser) rs531373389 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.318T>C (p.Ile106=) rs770759936 0.00002
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) rs149165175 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006267.5(RANBP2):c.4331C>T (p.Ala1444Val) rs150309568 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006348.5(COG5):c.59C>T (p.Ala20Val) rs368239973 0.00002
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) rs146274871 0.00002
NM_006514.4(SCN10A):c.1276C>T (p.Arg426Trp) rs532774213 0.00002
NM_006514.4(SCN10A):c.2195T>C (p.Phe732Ser) rs373216811 0.00002
NM_006514.4(SCN10A):c.2221C>G (p.Leu741Val) rs137906740 0.00002
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly) rs745659019 0.00002
NM_006514.4(SCN10A):c.2579T>C (p.Val860Ala) rs781073957 0.00002
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met) rs145568435 0.00002
NM_006514.4(SCN10A):c.3727G>A (p.Val1243Met) rs765684724 0.00002
NM_006514.4(SCN10A):c.434T>C (p.Val145Ala) rs367751260 0.00002
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu) rs1432009058 0.00002
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) rs145118503 0.00002
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr) rs775898129 0.00002
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu) rs759342420 0.00002
NM_006904.7(PRKDC):c.10796C>G (p.Thr3599Ser) rs147753989 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006939.4(SOS2):c.2384+5A>G rs376903120 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn) rs150188572 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012120.3(CD2AP):c.221G>T (p.Arg74Met) rs758523796 0.00002
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly) rs774316527 0.00002
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile) rs368901621 0.00002
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 0.00002
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln) rs949658602 0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00002
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln) rs766439806 0.00002
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His) rs903783945 0.00002
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) rs201057526 0.00002
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1500+5G>A rs201772961 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) rs773688938 0.00002
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) rs780025635 0.00002
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) rs150833995 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His) rs748621335 0.00002
NM_013339.4(ALG6):c.681-5T>C rs778405436 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_014000.3(VCL):c.1031G>C (p.Gly344Ala) rs778875353 0.00002
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp) rs377722209 0.00002
NM_014000.3(VCL):c.1606C>A (p.Pro536Thr) rs370058111 0.00002
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys) rs759356162 0.00002
NM_014000.3(VCL):c.2747C>T (p.Pro916Leu) rs143321584 0.00002
NM_014000.3(VCL):c.2905G>A (p.Ala969Thr) rs199751261 0.00002
NM_014000.3(VCL):c.806C>G (p.Ala269Gly) rs762710405 0.00002
NM_014000.3(VCL):c.853C>T (p.Arg285Cys) rs757517552 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014140.4(SMARCAL1):c.1757G>A (p.Arg586Gln) rs766857853 0.00002
NM_014140.4(SMARCAL1):c.193G>A (p.Val65Met) rs759402336 0.00002
NM_014140.4(SMARCAL1):c.1993G>T (p.Ala665Ser) rs768868466 0.00002
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp) rs189863563 0.00002
NM_014140.4(SMARCAL1):c.2389G>A (p.Asp797Asn) rs528033845 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln) rs372298863 0.00002
NM_014140.4(SMARCAL1):c.2583C>T (p.Thr861=) rs766357613 0.00002
NM_014140.4(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564 0.00002
NM_014140.4(SMARCAL1):c.488C>A (p.Thr163Asn) rs748188404 0.00002
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) rs375140716 0.00002
NM_014140.4(SMARCAL1):c.776T>C (p.Ile259Thr) rs750671325 0.00002
NM_014140.4(SMARCAL1):c.827C>T (p.Thr276Met) rs558788774 0.00002
NM_014140.4(SMARCAL1):c.982C>T (p.Leu328Phe) rs909294272 0.00002
NM_014208.3(DSPP):c.2525del (p.Ser842fs) rs1395922945 0.00002
NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu) rs958455222 0.00002
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) rs776461118 0.00002
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp) rs573469049 0.00002
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr) rs1294879564 0.00002
NM_014270.5(SLC7A9):c.468C>T (p.Ala156=) rs770249299 0.00002
NM_014270.5(SLC7A9):c.864G>A (p.Ala288=) rs781259784 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) rs763915931 0.00002
NM_014317.5(PDSS1):c.859G>A (p.Val287Met) rs768568415 0.00002
NM_014339.7(IL17RA):c.944-5C>T rs370875549 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014425.5(INVS):c.2009T>C (p.Leu670Pro) rs762112247 0.00002
NM_014425.5(INVS):c.2285G>A (p.Arg762Gln) rs753540322 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.337G>A (p.Glu113Lys) rs747572974 0.00002
NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro) rs762336297 0.00002
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.695C>T (p.Thr232Ile) rs774199987 0.00002
NM_014625.4(NPHS2):c.724G>A (p.Ala242Thr) rs201355305 0.00002
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter) rs373796916 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014727.3(KMT2B):c.1847G>A (p.Arg616Gln) rs375135657 0.00002
NM_014844.5(TECPR2):c.1372G>A (p.Val458Met) rs745458532 0.00002
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
NM_014908.4(DOLK):c.-22G>A rs754288997 0.00002
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr) rs769241947 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile) rs372057636 0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His) rs767965852 0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) rs373587710 0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) rs373115419 0.00002
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg) rs2042173742 0.00002
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu) rs773140295 0.00002
NM_014956.5(CEP164):c.2362-14G>A rs1035815151 0.00002
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala) rs750842640 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.3609+3G>A rs148009946 0.00002
NM_014967.5(FAN1):c.2763C>T (p.Arg921=) rs756058541 0.00002
NM_015047.3(EMC1):c.1492T>C (p.Trp498Arg) rs759830718 0.00002
NM_015102.5(NPHP4):c.109T>C (p.Trp37Arg) rs770741381 0.00002
NM_015102.5(NPHP4):c.1343C>T (p.Ser448Leu) rs367909950 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015102.5(NPHP4):c.1418G>T (p.Arg473Met) rs754829412 0.00002
NM_015102.5(NPHP4):c.1585G>A (p.Gly529Ser) rs750626428 0.00002
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs) rs751662952 0.00002
NM_015102.5(NPHP4):c.2006C>T (p.Thr669Ile) rs368327650 0.00002
NM_015102.5(NPHP4):c.2116G>T (p.Val706Leu) rs755418982 0.00002
NM_015102.5(NPHP4):c.2304+6G>A rs751418752 0.00002
NM_015102.5(NPHP4):c.2444C>T (p.Ser815Leu) rs202165848 0.00002
NM_015102.5(NPHP4):c.2686C>T (p.Arg896Trp) rs754364004 0.00002
NM_015102.5(NPHP4):c.2740C>T (p.Arg914Cys) rs373603595 0.00002
NM_015102.5(NPHP4):c.2956G>A (p.Gly986Arg) rs370946873 0.00002
NM_015102.5(NPHP4):c.2998A>G (p.Asn1000Asp) rs766073255 0.00002
NM_015102.5(NPHP4):c.3032A>G (p.Asn1011Ser) rs369529384 0.00002
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=) rs753246840 0.00002
NM_015102.5(NPHP4):c.3241G>C (p.Gly1081Arg) rs373981841 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015102.5(NPHP4):c.3335G>A (p.Gly1112Asp) rs755637892 0.00002
NM_015102.5(NPHP4):c.3630T>G (p.Phe1210Leu) rs758458943 0.00002
NM_015102.5(NPHP4):c.3649C>T (p.Arg1217Cys) rs751325206 0.00002
NM_015102.5(NPHP4):c.3659C>T (p.Ala1220Val) rs758049366 0.00002
NM_015102.5(NPHP4):c.3664C>G (p.Pro1222Ala) rs1038494626 0.00002
NM_015102.5(NPHP4):c.3724G>A (p.Ala1242Thr) rs370942610 0.00002
NM_015102.5(NPHP4):c.3816+5G>A rs971158630 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_015102.5(NPHP4):c.845T>A (p.Ile282Asn) rs753652250 0.00002
NM_015102.5(NPHP4):c.910G>A (p.Val304Ile) rs571395593 0.00002
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg) rs1053382446 0.00002
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr) rs764691105 0.00002
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) rs746088661 0.00002
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) rs748758469 0.00002
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) rs746428922 0.00002
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) rs745697707 0.00002
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) rs762794892 0.00002
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) rs200278059 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His) rs371028848 0.00002
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=) rs966605945 0.00002
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn) rs759934290 0.00002
NM_015272.5(RPGRIP1L):c.231-4C>A rs774628905 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln) rs376330325 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015272.5(RPGRIP1L):c.3835+3A>G rs769218955 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) rs757338321 0.00002
NM_015386.3(COG4):c.811A>G (p.Ile271Val) rs551058375 0.00002
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=) rs374053775 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.2262G>A (p.Val754=) rs141092796 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg) rs774020325 0.00002
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015506.2(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter) rs368033879 0.00002
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp) rs745644146 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys) rs375755957 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys) rs760700286 0.00002
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp) rs761696659 0.00002
NM_015910.7(WDPCP):c.208+6G>T rs775227440 0.00002
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu) rs758543575 0.00002
NM_015910.7(WDPCP):c.634-12T>A rs779141559 0.00002
NM_015910.7(WDPCP):c.771T>A (p.Ser257=) rs764847886 0.00002
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) rs748573163 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) rs374088232 0.00002
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) rs761861080 0.00002
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys) rs1239323884 0.00002
NM_016341.4(PLCE1):c.2342T>C (p.Leu781Pro) rs201965980 0.00002
NM_016341.4(PLCE1):c.3215A>G (p.Asn1072Ser) rs764019766 0.00002
NM_016341.4(PLCE1):c.5670G>A (p.Pro1890=) rs370864800 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_016360.4(TACO1):c.421C>T (p.Arg141Ter) rs765093638 0.00002
NM_016360.4(TACO1):c.685G>A (p.Val229Ile) rs768292534 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_016616.5(NME8):c.1684A>G (p.Lys562Glu) rs370146151 0.00002
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) rs1307880504 0.00002
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_017415.3(KLHL3):c.966C>T (p.Phe322=) rs750511635 0.00002
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) rs782808832 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017636.4(TRPM4):c.1050+1G>A rs775091137 0.00002
NM_017636.4(TRPM4):c.1466C>T (p.Pro489Leu) rs766004189 0.00002
NM_017636.4(TRPM4):c.1885G>A (p.Glu629Lys) rs762104169 0.00002
NM_017636.4(TRPM4):c.2420C>T (p.Pro807Leu) rs142257045 0.00002
NM_017636.4(TRPM4):c.2733G>A (p.Thr911=) rs756464554 0.00002
NM_017636.4(TRPM4):c.2912A>G (p.Tyr971Cys) rs199577978 0.00002
NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser) rs144702920 0.00002
NM_017636.4(TRPM4):c.3043T>G (p.Tyr1015Asp) rs757067985 0.00002
NM_017636.4(TRPM4):c.749G>A (p.Arg250His) rs778711356 0.00002
NM_017636.4(TRPM4):c.865G>A (p.Glu289Lys) rs770369257 0.00002
NM_017636.4(TRPM4):c.935C>T (p.Ala312Val) rs138095759 0.00002
NM_017662.5(TRPM6):c.3550T>C (p.Tyr1184His) rs775495891 0.00002
NM_017662.5(TRPM6):c.5415C>A (p.Ser1805=) rs150150126 0.00002
NM_017662.5(TRPM6):c.766G>A (p.Val256Met) rs781237985 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00002
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser) rs886044146 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) rs371385411 0.00002
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) rs1189776580 0.00002
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met) rs1349507815 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro) rs375325395 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser) rs748036782 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser) rs764847747 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) rs1242867481 0.00002
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) rs749302988 0.00002
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=) rs368538461 0.00002
NM_017827.4(SARS2):c.534+9C>T rs200404554 0.00002
NM_017827.4(SARS2):c.796G>A (p.Gly266Arg) rs767412508 0.00002
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His) rs753474292 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) rs746632175 0.00002
NM_017947.4(MOCOS):c.2164+2T>C rs1164875023 0.00002
NM_017947.4(MOCOS):c.2515-1G>A rs758451365 0.00002
NM_017947.4(MOCOS):c.362C>T (p.Thr121Met) rs770229881 0.00002
NM_017947.4(MOCOS):c.912C>A (p.Phe304Leu) rs778641341 0.00002
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) rs114740534 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018062.4(FANCL):c.428C>T (p.Ala143Val) rs756000370 0.00002
NM_018062.4(FANCL):c.677G>A (p.Arg226His) rs745526326 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) rs763397227 0.00002
NM_018417.6(ADCY10):c.1668C>T (p.Thr556=) rs200361556 0.00002
NM_018417.6(ADCY10):c.3307A>C (p.Met1103Leu) rs755931495 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_018979.4(WNK1):c.1401-7T>C rs764009301 0.00002
NM_018979.4(WNK1):c.2043T>G (p.His681Gln) rs180681076 0.00002
NM_018979.4(WNK1):c.2105C>A (p.Ser702Tyr) rs772771448 0.00002
NM_018979.4(WNK1):c.4043C>T (p.Thr1348Ile) rs746601991 0.00002
NM_018979.4(WNK1):c.404A>G (p.Gln135Arg) rs750301176 0.00002
NM_018979.4(WNK1):c.413C>T (p.Pro138Leu) rs1277355342 0.00002
NM_018979.4(WNK1):c.4357G>A (p.Val1453Ile) rs774635947 0.00002
NM_018979.4(WNK1):c.4364C>T (p.Ala1455Val) rs759951096 0.00002
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val) rs781667314 0.00002
NM_018979.4(WNK1):c.4826A>G (p.Asn1609Ser) rs775933163 0.00002
NM_018979.4(WNK1):c.521G>A (p.Ser174Asn) rs1012754203 0.00002
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=) rs373370309 0.00002
NM_018979.4(WNK1):c.6120C>T (p.Ser2040=) rs142439139 0.00002
NM_018979.4(WNK1):c.6230G>A (p.Arg2077Gln) rs771385000 0.00002
NM_018979.4(WNK1):c.6643+13C>T rs765477070 0.00002
NM_018979.4(WNK1):c.7003G>A (p.Ala2335Thr) rs375901694 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_020041.3(SLC2A9):c.795C>T (p.Asn265=) rs112580274 0.00002
NM_020041.3(SLC2A9):c.843C>T (p.Asp281=) rs374095603 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=) rs371002443 0.00002
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs) rs776934642 0.00002
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=) rs1336342134 0.00002
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) rs755156050 0.00002
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys) rs727504612 0.00002
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482 0.00002
NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys) rs1422916311 0.00002
NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln) rs185326114 0.00002
NM_020361.5(CPA6):c.382C>T (p.Arg128Ter) rs768188762 0.00002
NM_020361.5(CPA6):c.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.725G>T (p.Gly242Val) rs372728943 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020381.4(PDSS2):c.348G>T (p.Val116=) rs779485875 0.00002
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val) rs766721028 0.00002
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr) rs1304705938 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=) rs771701036 0.00002
NM_020529.3(NFKBIA):c.636+19C>T rs759618202 0.00002
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser) rs115964813 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020632.3(ATP6V0A4):c.2329G>A (p.Gly777Arg) rs767611310 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter) rs775397068 0.00002
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) rs369752557 0.00002
NM_020937.4(FANCM):c.1433G>A (p.Arg478Gln) rs932978530 0.00002
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) rs1226481393 0.00002
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) rs371569048 0.00002
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) rs763495035 0.00002
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) rs368303133 0.00002
NM_020937.4(FANCM):c.2444C>T (p.Ser815Leu) rs371688801 0.00002
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) rs200017450 0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) rs772477865 0.00002
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) rs747787931 0.00002
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) rs142077813 0.00002
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) rs200028975 0.00002
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) rs765860916 0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) rs759068569 0.00002
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) rs763226965 0.00002
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) rs139736490 0.00002
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) rs750156990 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) rs371731991 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.144G>A (p.Thr48=) rs759872307 0.00002
NM_020975.6(RET):c.2358T>C (p.His786=) rs758715544 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) rs1361265737 0.00002
NM_020975.6(RET):c.304G>A (p.Asp102Asn) rs201244749 0.00002
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) rs200021472 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.488G>A (p.Arg163Gln) rs149403911 0.00002
NM_020975.6(RET):c.682G>C (p.Ala228Pro) rs760813493 0.00002
NM_020975.6(RET):c.723C>T (p.Ala241=) rs544252468 0.00002
NM_020975.6(RET):c.731C>T (p.Thr244Ile) rs145970248 0.00002
NM_020975.6(RET):c.825C>T (p.Gly275=) rs150797149 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_020987.5(ANK3):c.3728G>A (p.Arg1243His) rs767721464 0.00002
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=) rs1338263000 0.00002
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile) rs748551891 0.00002
NM_021098.3(CACNA1H):c.1719C>T (p.His573=) rs964041008 0.00002
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val) rs757893642 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=) rs1348188346 0.00002
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=) rs201227047 0.00002
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val) rs1482408749 0.00002
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala) rs776860363 0.00002
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn) rs977157885 0.00002
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) rs1437402680 0.00002
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His) rs369475886 0.00002
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr) rs375742212 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3845+7C>T rs371494399 0.00002
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys) rs541678072 0.00002
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543 0.00002
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys) rs776740325 0.00002
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255 0.00002
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu) rs1263557227 0.00002
NM_021098.3(CACNA1H):c.4224-11C>T rs371952675 0.00002
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met) rs778002223 0.00002
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln) rs541249511 0.00002
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His) rs760412982 0.00002
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys) rs1315448028 0.00002
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met) rs779872782 0.00002
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe) rs369220355 0.00002
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=) rs764500957 0.00002
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile) rs766939282 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg) rs563954985 0.00002
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=) rs372118811 0.00002
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=) rs780808265 0.00002
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His) rs752385455 0.00002
NM_021098.3(CACNA1H):c.644-7C>T rs545310896 0.00002
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374 0.00002
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=) rs770681199 0.00002
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys) rs761083620 0.00002
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267 0.00002
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu) rs778943919 0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) rs760918600 0.00002
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met) rs774565789 0.00002
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) rs377665479 0.00002
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val) rs200665705 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe) rs771156473 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) rs767509954 0.00002
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) rs551170184 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln) rs757960404 0.00002
NM_022042.4(SLC26A1):c.654G>A (p.Gly218=) rs375888392 0.00002
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) rs149568178 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met) rs746834434 0.00002
NM_022098.4(XPNPEP3):c.970-4C>T rs752602313 0.00002
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=) rs757093442 0.00002
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His) rs529401311 0.00002
NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys) rs376762015 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn) rs139612373 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) rs763543904 0.00002
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) rs780179136 0.00002
NM_022455.5(NSD1):c.1992A>G (p.Glu664=) rs770274186 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.5510-10G>A rs767198805 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1965C>T (p.Val655=) rs752090814 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437 0.00002
NM_022489.4(INF2):c.255G>T (p.Ser85=) rs369037445 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2802G>A (p.Ala934=) rs768008674 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn) rs201180682 0.00002
NM_022489.4(INF2):c.372C>T (p.Tyr124=) rs368077298 0.00002
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala) rs1328802237 0.00002
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.95+16G>A rs376357429 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.434T>G (p.Val145Gly) rs745681948 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val) rs746860631 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024407.5(NDUFS7):c.180C>T (p.Gly60=) rs762680917 0.00002
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) rs782536553 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) rs142978073 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu) rs782535484 0.00002
NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln) rs781875625 0.00002
NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile) rs782503732 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_024598.4(USB1):c.111C>T (p.Pro37=) rs767672950 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) rs775513593 0.00002
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) rs747604822 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) rs761601575 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) rs754465006 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe) rs730881899 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) rs45464500 0.00002
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) rs61756146 0.00002
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) rs786203345 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) rs770239827 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.559C>A (p.His187Asn) rs753964273 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) rs781192528 0.00002
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser) rs775451018 0.00002
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) rs775694534 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr) rs139162588 0.00002
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00002
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn) rs148042277 0.00002
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys) rs376675521 0.00002
NM_025074.7(FRAS1):c.8958+4A>G rs368613886 0.00002
NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=) rs376083444 0.00002
NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=) rs774103279 0.00002
NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp) rs765238008 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met) rs189280108 0.00002
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser) rs1331263277 0.00002
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp) rs372963403 0.00002
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala) rs369868981 0.00002
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp) rs750466529 0.00002
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln) rs774900495 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4030-14A>G rs910563325 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=) rs778794581 0.00002
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=) rs747996508 0.00002
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His) rs761763799 0.00002
NM_025114.4(CEP290):c.549C>T (p.Tyr183=) rs781004914 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp) rs769798212 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg) rs776216960 0.00002
NM_025114.4(CEP290):c.739G>A (p.Val247Ile) rs1409885182 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) rs1339571276 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe) rs1428784861 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) rs755329143 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.382T>C (p.Leu128=) rs374060552 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_031885.5(BBS2):c.941-11C>T rs763441369 0.00002
NM_031885.5(BBS2):c.941-6G>A rs746397118 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr) rs376900429 0.00002
NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr) rs997831285 0.00002
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_032387.5(WNK4):c.937C>G (p.Pro313Ala) rs139202412 0.00002
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) rs146691996 0.00002
NM_032409.3(PINK1):c.959+4A>T rs758604046 0.00002
NM_032444.4(SLX4):c.1163+5G>T rs762454252 0.00002
NM_032444.4(SLX4):c.1574G>A (p.Arg525His) rs756369289 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu) rs749399683 0.00002
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro) rs762300440 0.00002
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu) rs573280243 0.00002
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val) rs781462011 0.00002
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys) rs750906921 0.00002
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) rs776060270 0.00002
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met) rs773890423 0.00002
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met) rs754761366 0.00002
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu) rs778781581 0.00002
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly) rs767790750 0.00002
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470 0.00002
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val) rs777033175 0.00002
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu) rs182432298 0.00002
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272 0.00002
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter) rs776789371 0.00002
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798 0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln) rs571996250 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) rs759274279 0.00002
NM_032578.4(MYPN):c.1716A>C (p.Gln572His) rs567930066 0.00002
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) rs142874859 0.00002
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys) rs548754907 0.00002
NM_032790.4(ORAI1):c.279G>C (p.Ser93=) rs562258866 0.00002
NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu) rs887302155 0.00002
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_033028.4(BBS4):c.-44G>C rs886051465 0.00002
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter) rs914062190 0.00002
NM_033028.5(BBS4):c.153C>T (p.Cys51=) rs754709708 0.00002
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala) rs775034843 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val) rs763316056 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) rs781398633 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033337.3(CAV3):c.*441T>C rs1161338634 0.00002
NM_033337.3(CAV3):c.401C>T (p.Ala134Val) rs201267913 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln) rs770915647 0.00002
NM_033380.3(COL4A5):c.231+2T>C rs763538451 0.00002
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_033380.3(COL4A5):c.4016-16T>G rs775007873 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) rs991159149 0.00002
NM_052813.5(CARD9):c.1094A>G (p.Glu365Gly) rs533844645 0.00002
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser) rs140484655 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_053025.4(MYLK):c.157G>A (p.Glu53Lys) rs376586087 0.00002
NM_053025.4(MYLK):c.2500G>A (p.Gly834Arg) rs754817817 0.00002
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) rs587782966 0.00002
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) rs777200220 0.00002
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile) rs752986671 0.00002
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) rs759317891 0.00002
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063 0.00002
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp) rs587782967 0.00002
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) rs762795374 0.00002
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn) rs140456660 0.00002
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836 0.00002
NM_053025.4(MYLK):c.963G>A (p.Lys321=) rs1052922812 0.00002
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) rs201445618 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=) rs375551000 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.451G>A (p.Val151Met) rs753912045 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.904+17A>G rs760664998 0.00002
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly) rs786203498 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter) rs753105954 0.00002
NM_130810.4(DNAAF4):c.246G>C (p.Met82Ile) rs1028632064 0.00002
NM_133259.4(LRPPRC):c.2079+10G>A rs545497810 0.00002
NM_133379.5(TTN):c.11179A>G (p.Ile3727Val) rs142723709 0.00002
NM_133379.5(TTN):c.12332C>T (p.Thr4111Ile) rs370317019 0.00002
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val) rs149169686 0.00002
NM_133379.5(TTN):c.14062G>A (p.Val4688Met) rs1476964512 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=) rs774349380 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=) rs1162292670 0.00002
NM_138694.4(PKHD1):c.108G>A (p.Thr36=) rs779123303 0.00002
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=) rs1268794606 0.00002
NM_138694.4(PKHD1):c.2244G>A (p.Ala748=) rs886043022 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=) rs140920157 0.00002
NM_138694.4(PKHD1):c.2576T>G (p.Leu859Trp) rs769143280 0.00002
NM_138694.4(PKHD1):c.2989A>G (p.Met997Val) rs979700489 0.00002
NM_138694.4(PKHD1):c.3419A>T (p.Asp1140Val) rs774570785 0.00002
NM_138694.4(PKHD1):c.3629-16C>T rs776260404 0.00002
NM_138694.4(PKHD1):c.3817G>C (p.Ala1273Pro) rs199643308 0.00002
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys) rs767379405 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6797C>T (p.Ala2266Val) rs755286726 0.00002
NM_138694.4(PKHD1):c.6996+5G>A rs1232218253 0.00002
NM_138694.4(PKHD1):c.7912T>A (p.Tyr2638Asn) rs749431123 0.00002
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=) rs753436694 0.00002
NM_138694.4(PKHD1):c.8156T>C (p.Met2719Thr) rs368696503 0.00002
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val) rs762313489 0.00002
NM_138694.4(PKHD1):c.8776C>T (p.Arg2926Trp) rs757650951 0.00002
NM_138694.4(PKHD1):c.8887G>A (p.Val2963Ile) rs749794881 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln) rs781885530 0.00002
NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr) rs1057522240 0.00002
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile) rs369026148 0.00002
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr) rs898035834 0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) rs373377525 0.00002
NM_144585.4(SLC22A12):c.1376T>G (p.Leu459Arg) rs777825034 0.00002
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu) rs1379428942 0.00002
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys) rs1018209116 0.00002
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe) rs774379732 0.00002
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr) rs568563702 0.00002
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys) rs753349449 0.00002
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu) rs780461710 0.00002
NM_144773.4(PROKR2):c.537G>A (p.Met179Ile) rs770233566 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321 0.00002
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala) rs766801011 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00002
NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter) rs1446807404 0.00002
NM_145207.3(AFG2A):c.288+13T>C rs765394285 0.00002
NM_145207.3(AFG2A):c.398C>T (p.Pro133Leu) rs756965142 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_148960.3(CLDN19):c.129C>T (p.Ala43=) rs780859720 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_152468.5(TMC8):c.1912G>T (p.Glu638Ter) rs373080751 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser) rs145899918 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9742+2dup rs770968105 0.00002
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe) rs751515113 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_153006.3(NAGS):c.505A>T (p.Met169Leu) rs569174201 0.00002
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys) rs748615630 0.00002
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.2109C>G (p.His703Gln) rs765177103 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp) rs941727035 0.00002
NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) rs752118322 0.00002
NM_153240.5(NPHP3):c.3311A>G (p.Tyr1104Cys) rs571618016 0.00002
NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln) rs767752387 0.00002
NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) rs1411458250 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg) rs774681590 0.00002
NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser) rs373728120 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153460.4(IL17RC):c.497C>T (p.Ala166Val) rs770092351 0.00002
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_153766.3(KCNJ1):c.-21-2122C>T rs111249880 0.00002
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val) rs104894246 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr) rs775809939 0.00002
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu) rs61693978 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1608+10C>T rs748917147 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) rs766856162 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys) rs375987939 0.00002
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496 0.00002
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu) rs772537800 0.00002
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn) rs745313480 0.00002
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172201.2(KCNE2):c.204G>A (p.Leu68=) rs200403369 0.00002
NM_172351.3(CD46):c.535G>C (p.Glu179Gln) rs779174212 0.00002
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala) rs199782834 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_173551.5(ANKS6):c.155C>T (p.Ala52Val) rs1422061469 0.00002
NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp) rs774030867 0.00002
NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser) rs761981516 0.00002
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) rs760387934 0.00002
NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala) rs1337342690 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.1483C>T (p.Arg495Trp) rs758999339 0.00002
NM_174936.4(PCSK9):c.159C>T (p.Ala53=) rs759214329 0.00002
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg) rs762968029 0.00002
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile) rs375541628 0.00002
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile) rs369851423 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_174936.4(PCSK9):c.9C>T (p.Thr3=) rs1465865735 0.00002
NM_175875.5(SIX5):c.108G>A (p.Leu36=) rs532927547 0.00002
NM_175875.5(SIX5):c.1368C>T (p.Leu456=) rs982154839 0.00002
NM_175875.5(SIX5):c.1876G>A (p.Ala626Thr) rs751513858 0.00002
NM_175875.5(SIX5):c.915C>T (p.Phe305=) rs370303254 0.00002
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_176824.3(BBS7):c.1305+13A>G rs773872987 0.00002
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys) rs747889031 0.00002
NM_176824.3(BBS7):c.1755A>G (p.Thr585=) rs1725022392 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_177438.3(DICER1):c.1377-18T>A rs1032236740 0.00002
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile) rs1454569806 0.00002
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr) rs370947079 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys) rs781103974 0.00002
NM_177965.4(CFAP418):c.155+12G>A rs371521751 0.00002
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr) rs759733354 0.00002
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) rs748807525 0.00002
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) rs886046909 0.00002
NM_178170.3(NEK8):c.1793G>A (p.Arg598His) rs771392691 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_178170.3(NEK8):c.889+1G>T rs780247729 0.00002
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser) rs1165621423 0.00002
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys) rs781020567 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_182643.3(DLC1):c.1348+9A>C rs200908536 0.00002
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952 0.00002
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615 0.00002
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) rs781688103 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_198252.3(GSN):c.2040C>T (p.Ile680=) rs758909359 0.00002
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu) rs200232092 0.00002
NM_198334.3(GANAB):c.560+469C>T rs777394229 0.00002
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) rs1443035026 0.00002
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) rs537110423 0.00002
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) rs775703296 0.00002
NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) rs778505224 0.00002
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) rs752782918 0.00002
NM_198428.3(BBS9):c.2633-15T>C rs757904510 0.00002
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe) rs950624105 0.00002
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) rs904098347 0.00002
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly) rs1264926096 0.00002
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn) rs563299889 0.00002
NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn) rs755342940 0.00002
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) rs281865056 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs) rs766652119 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_201384.3(PLEC):c.10741G>A (p.Gly3581Ser) rs782459958 0.00002
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) rs144461906 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) rs753973135 0.00002
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile) rs746265965 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_207361.6(FREM2):c.2473G>A (p.Val825Met) rs757937131 0.00002
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met) rs773471950 0.00002
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro) rs777697719 0.00002
NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg) rs568057756 0.00002
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu) rs1460573845 0.00002
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser) rs555402630 0.00002
NM_212482.4(FN1):c.2299+16C>T rs201231230 0.00002
NM_212482.4(FN1):c.4143C>T (p.Pro1381=) rs767010734 0.00002
NM_212482.4(FN1):c.4161C>A (p.Thr1387=) rs370663743 0.00002
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=) rs147150819 0.00002
NM_212482.4(FN1):c.5511T>C (p.Asn1837=) rs760293471 0.00002
NM_212482.4(FN1):c.592G>A (p.Gly198Arg) rs561607931 0.00002
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile) rs149294265 0.00002
NM_212482.4(FN1):c.790G>A (p.Gly264Ser) rs950443871 0.00002
NM_212482.4(FN1):c.907C>T (p.Pro303Ser) rs750138959 0.00002
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr) rs763686798 0.00002
NM_213655.5(WNK1):c.2359C>T (p.Arg787Ter) rs748504277 0.00002
NM_213655.5(WNK1):c.3218G>A (p.Arg1073His) rs745947901 0.00002
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.756C>T (p.Phe252=) rs749692458 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser) rs777939247 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly) rs767063791 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000022.4(ADA):c.313C>T (p.His105Tyr) rs201522960 0.00001
NM_000022.4(ADA):c.349T>C (p.Trp117Arg) rs771162170 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000023.4(SGCA):c.*12+2T>C rs1297436069 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.154-9A>G rs762257005 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000029.4(AGT):c.396C>T (p.Thr132=) rs201189192 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 0.00001
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323 0.00001
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) rs752874220 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.3515A>T (p.His1172Leu) rs1024630299 0.00001
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) rs1479009365 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) rs748389037 0.00001
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) rs773201570 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) rs767691072 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) rs757874563 0.00001
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000039.3(APOA1):c.126C>T (p.Tyr42=) rs1591331259 0.00001
NM_000039.3(APOA1):c.379G>A (p.Asp127Asn) rs921646982 0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) rs756363516 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn) rs876659092 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr) rs748898098 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly) rs563137460 0.00001
NM_000051.4(ATM):c.8072G>A (p.Arg2691His) rs876658385 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8268+13A>T rs1400036072 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr) rs780303327 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln) rs1060501537 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) rs201855906 0.00001
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) rs759359836 0.00001
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) rs377670877 0.00001
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile) rs749972036 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) rs778579276 0.00001
NM_000053.4(ATP7B):c.2400C>T (p.Ala800=) rs760562006 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) rs755739707 0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro) rs377297166 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) rs374944498 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile) rs1345433491 0.00001
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile) rs753044473 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=) rs200582826 0.00001
NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met) rs899484304 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe) rs373242731 0.00001
NM_000054.7(AVPR2):c.359T>C (p.Met120Thr) rs782323704 0.00001
NM_000054.7(AVPR2):c.445C>T (p.Arg149Cys) rs905300222 0.00001
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys) rs782806507 0.00001
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys) rs116097205 0.00001
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) rs768127491 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754 0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551 0.00001
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser) rs371418699 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410 0.00001
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln) rs41293467 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys) rs80358767 0.00001
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) rs397507360 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739 0.00001
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile) rs767567428 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) rs786203098 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) rs747968673 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.1887G>A (p.Pro629=) rs747150559 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=) rs755973774 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys) rs531259592 0.00001
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp) rs138900723 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 0.00001
NM_000064.4(C3):c.3489+18T>C rs747517809 0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=) rs189353964 0.00001
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg) rs372976419 0.00001
NM_000064.4(C3):c.3754G>A (p.Val1252Ile) rs537300095 0.00001
NM_000064.4(C3):c.3757G>A (p.Val1253Met) rs769164285 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000064.4(C3):c.452C>G (p.Thr151Ser) rs1968082456 0.00001
NM_000064.4(C3):c.4631-6C>T rs775109096 0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=) rs542668902 0.00001
NM_000064.4(C3):c.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr) rs924523629 0.00001
NM_000066.4(C8B):c.725G>A (p.Arg242His) rs369993264 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.339A>G (p.Lys113=) rs370128128 0.00001
NM_000067.3(CA2):c.453C>T (p.Ser151=) rs189189209 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met) rs144220513 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His) rs762091599 0.00001
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val) rs558925493 0.00001
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) rs878854364 0.00001
NM_000070.3(CAPN3):c.452A>G (p.His151Arg) rs766369281 0.00001
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln) rs1375691407 0.00001
NM_000070.3(CAPN3):c.632+3A>G rs201660362 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 0.00001
NM_000070.3(CAPN3):c.7A>G (p.Thr3Ala) rs761238719 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp) rs367962613 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.676G>C (p.Ala226Pro) rs763835246 0.00001
NM_000077.5(CDKN2A):c.307C>T (p.Arg103Trp) rs767642535 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile) rs757494655 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) rs775637637 0.00001
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys) rs1400122692 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) rs387907411 0.00001
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His) rs779327388 0.00001
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser) rs2023168679 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val) rs1372036761 0.00001
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) rs794728035 0.00001
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) rs1688260053 0.00001
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) rs374532173 0.00001
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) rs1001748912 0.00001
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser) rs138166497 0.00001
NM_000090.4(COL3A1):c.1761+6T>C rs189483688 0.00001
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu) rs902780774 0.00001
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) rs794728048 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) rs376603102 0.00001
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) rs112714742 0.00001
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) rs761469859 0.00001
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu) rs1455100373 0.00001
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn) rs929526823 0.00001
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) rs1431359737 0.00001
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) rs376738516 0.00001
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) rs1464447467 0.00001
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) rs752598062 0.00001
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) rs772919524 0.00001
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) rs752777683 0.00001
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) rs772428340 0.00001
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353 0.00001
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr) rs772713162 0.00001
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys) rs778166354 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=) rs749945759 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.1926C>T (p.Ala642=) rs758586879 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=) rs776512229 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2489-5C>T rs1351916467 0.00001
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp) rs766420056 0.00001
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg) rs769395979 0.00001
NM_000091.5(COL4A3):c.3337+15T>C rs1230244758 0.00001
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=) rs754567461 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) rs761347389 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) rs759579368 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.388-15T>C rs762513527 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg) rs976882559 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg) rs1260966222 0.00001
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=) rs1309123639 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000091.5(COL4A3):c.4851T>C (p.His1617=) rs74379096 0.00001
NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu) rs2069719935 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.933+9T>C rs752703682 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000092.4(COL4A4):c.-408G>A rs554839865 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe) rs570529667 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp) rs374340855 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met) rs1393470640 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2383+9G>C rs746435134 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.26T>A (p.Met9Lys) rs1440047357 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs) rs1162601696 0.00001
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555 0.00001
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=) rs754693636 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000092.5(COL4A4):c.559-2A>T rs766243664 0.00001
NM_000092.5(COL4A4):c.595-7T>A rs765195717 0.00001
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) rs2061040474 0.00001
NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser) rs779795137 0.00001
NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu) rs770011392 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.975+1G>A rs1553683192 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) rs1452745305 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln) rs574551567 0.00001
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser) rs1205167823 0.00001
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=) rs770392149 0.00001
NM_000093.5(COL5A1):c.786+11T>G rs766319028 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=) rs549271654 0.00001
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val) rs973642161 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys) rs565472139 0.00001
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=) rs749738987 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser) rs762189891 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu) rs750113696 0.00001
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=) rs751768659 0.00001
NM_000096.4(CP):c.1954G>A (p.Glu652Lys) rs141425435 0.00001
NM_000098.3(CPT2):c.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1290T>C (p.Ala430=) rs776488578 0.00001
NM_000098.3(CPT2):c.135C>T (p.Tyr45=) rs1645327989 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) rs756414686 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.222T>C (p.Asp74=) rs1360477206 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.378C>T (p.Ser126=) rs780743357 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.468T>C (p.Thr156=) rs138938770 0.00001
NM_000098.3(CPT2):c.626C>T (p.Ala209Val) rs773788921 0.00001
NM_000098.3(CPT2):c.656G>A (p.Arg219Gln) rs920941550 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000101.4(CYBA):c.163C>T (p.Pro55Ser) rs755658845 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=) rs755050448 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=) rs766679884 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=) rs778591928 0.00001
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp) rs200724605 0.00001
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) rs72549388 0.00001
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr) rs571114616 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446 0.00001
NM_000117.3(EMD):c.400-6C>T rs782396776 0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) rs1569552105 0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln) rs782352489 0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys) rs782193940 0.00001
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) rs374262917 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175 0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val) rs773393953 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) rs780833865 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1251G>T (p.Gln417His) rs779068860 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) rs565303230 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2147A>G (p.His716Arg) rs751474452 0.00001
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) rs1425954290 0.00001
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser) rs1440861257 0.00001
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) rs770294560 0.00001
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598 0.00001
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys) rs536086288 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) rs144570744 0.00001
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) rs1339411422 0.00001
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys) rs751222471 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2704G>C (p.Asp902His) rs1009521389 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) rs751380220 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) rs914045767 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.797C>T (p.Thr266Met) rs752799441 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) rs143212932 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1151A>G (p.His384Arg) rs577302082 0.00001
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser) rs1284061457 0.00001
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) rs1588047887 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg) rs912537449 0.00001
NM_000136.3(FANCC):c.1355A>G (p.His452Arg) rs1224625808 0.00001
NM_000136.3(FANCC):c.1358T>A (p.Leu453His) rs1490551416 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) rs1353498563 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) rs1064793496 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) rs149566909 0.00001
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln) rs150174412 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828 0.00001
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154 0.00001
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782 0.00001
NM_000136.3(FANCC):c.917A>T (p.Asp306Val) rs1383010376 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.996+6T>C rs200934877 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu) rs776942896 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser) rs397515763 0.00001
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn) rs377686210 0.00001
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys) rs1335136151 0.00001
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys) rs1450795956 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) rs965020667 0.00001
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) rs772308703 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser) rs372203315 0.00001
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr) rs1177856657 0.00001
NM_000138.5(FBN1):c.297G>A (p.Met99Ile) rs1314594090 0.00001
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg) rs372404949 0.00001
NM_000138.5(FBN1):c.353A>G (p.His118Arg) rs765503809 0.00001
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg) rs193922200 0.00001
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val) rs370572503 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val) rs202192505 0.00001
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys) rs1258352189 0.00001
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His) rs778219976 0.00001
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn) rs778145681 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val) rs560230585 0.00001
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) rs761187818 0.00001
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln) rs1180715983 0.00001
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) rs794728227 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu) rs1286993730 0.00001
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys) rs544990350 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln) rs759791896 0.00001
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met) rs757901214 0.00001
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His) rs1340155407 0.00001
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr) rs777539060 0.00001
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn) rs766358553 0.00001
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile) rs145082616 0.00001
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg) rs993464239 0.00001
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del) rs886038964 0.00001
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp) rs956702513 0.00001
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser) rs773486280 0.00001
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) rs773204216 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His) rs762659907 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150 0.00001
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) rs794728248 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp) rs2043050989 0.00001
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val) rs776823384 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His) rs773084230 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys) rs1042807324 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val) rs774698871 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met) rs138184493 0.00001
NM_000138.5(FBN1):c.796G>A (p.Val266Ile) rs201669595 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg) rs1220647446 0.00001
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly) rs754570125 0.00001
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) rs371939796 0.00001
NM_000138.5(FBN1):c.862+3A>G rs1555401453 0.00001
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly) rs565078451 0.00001
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00001
NM_000143.4(FH):c.1259C>T (p.Ala420Val) rs766377516 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.776T>C (p.Met259Thr) rs1407485828 0.00001
NM_000151.4(G6PC1):c.108C>T (p.Ile36=) rs148461633 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.822T>C (p.Ala274=) rs761361643 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) rs768532620 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) rs771132000 0.00001
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) rs375277249 0.00001
NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) rs761808583 0.00001
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) rs777937822 0.00001
NM_000168.6(GLI3):c.246G>A (p.Arg82=) rs890167751 0.00001
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) rs1283743237 0.00001
NM_000168.6(GLI3):c.252A>G (p.Ser84=) rs1051536881 0.00001
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys) rs755227076 0.00001
NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg) rs745986297 0.00001
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=) rs1022587271 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) rs541487979 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) rs373003816 0.00001
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu) rs1419861206 0.00001
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) rs139274834 0.00001
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val) rs782498765 0.00001
NM_000169.3(GLA):c.33C>T (p.Gly11=) rs781856890 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu) rs762425284 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) rs1296531416 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg) rs751136795 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg) rs863224616 0.00001
NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu) rs1064793403 0.00001
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter) rs1553408388 0.00001
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser) rs587781462 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.2515G>C (p.Asp839His) rs1553413868 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu) rs747441460 0.00001
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln) rs75095286 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn) rs876660882 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala) rs1449733937 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) rs368717991 0.00001
NM_000187.4(HGD):c.1335T>C (p.Asn445=) rs187614203 0.00001
NM_000187.4(HGD):c.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000187.4(HGD):c.343-5C>T rs779590565 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 0.00001
NM_000187.4(HGD):c.915T>C (p.Ser305=) rs144158342 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu) rs756067445 0.00001
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 0.00001
NM_000195.5(HPS1):c.1532+13C>T rs202086569 0.00001
NM_000195.5(HPS1):c.1533-16G>A rs763995634 0.00001
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) rs141596696 0.00001
NM_000195.5(HPS1):c.1598+11G>A rs538837544 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.2086C>T (p.Arg696Cys) rs118116760 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.419C>T (p.Ala140Val) rs1243685743 0.00001
NM_000195.5(HPS1):c.498C>T (p.Phe166=) rs375340317 0.00001
NM_000195.5(HPS1):c.507+14G>A rs367821874 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) rs397509434 0.00001
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) rs28934592 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) rs1424242431 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser) rs779083605 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) rs1724402529 0.00001
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) rs780759494 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.439A>G (p.Met147Val) rs760787282 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln) rs121913148 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000209.4(PDX1):c.98C>A (p.Pro33His) rs767363575 0.00001
NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu) rs565088728 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser) rs372890193 0.00001
NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn) rs765676725 0.00001
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) rs374857648 0.00001
NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys) rs538467153 0.00001
NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp) rs756507156 0.00001
NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=) rs201439404 0.00001
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) rs774308604 0.00001
NM_000214.3(JAG1):c.1120+11T>C rs768847875 0.00001
NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr) rs755648887 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.2345-10T>G rs752854231 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2573-15G>A rs753341715 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2682+20G>A rs764559590 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu) rs747142039 0.00001
NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn) rs768823146 0.00001
NM_000214.3(JAG1):c.3237G>C (p.Val1079=) rs752052700 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.418G>A (p.Asp140Asn) rs1456733889 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000214.3(JAG1):c.868G>A (p.Gly290Ser) rs1412480153 0.00001
NM_000214.3(JAG1):c.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000214.3(JAG1):c.993C>T (p.Pro331=) rs1294629128 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000217.3(KCNA1):c.654A>T (p.Thr218=) rs571062972 0.00001
NM_000217.3(KCNA1):c.76C>T (p.Arg26Trp) rs373645838 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln) rs542628042 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) rs200418488 0.00001
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala) rs749196110 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1686-18C>G rs1846715620 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser) rs1225780996 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe) rs1282771390 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly) rs368011737 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000219.6(KCNE1):c.246C>T (p.Ile82=) rs555086287 0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu) rs569408054 0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu) rs1060502568 0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys) rs1232060384 0.00001
NM_000222.3(KIT):c.531C>T (p.Arg177=) rs756722358 0.00001
NM_000226.4(KRT9):c.1509A>G (p.Gly503=) rs527491908 0.00001
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000229.2(LCAT):c.110C>T (p.Thr37Met) rs971887742 0.00001
NM_000229.2(LCAT):c.481G>A (p.Glu161Lys) rs768148804 0.00001
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys) rs747549369 0.00001
NM_000231.3(SGCG):c.629A>G (p.His210Arg) rs1045567625 0.00001
NM_000231.3(SGCG):c.781C>G (p.Leu261Val) rs1460327315 0.00001
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu) rs769814960 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.156C>T (p.Cys52=) rs754921704 0.00001
NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys) rs764666519 0.00001
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys) rs765717858 0.00001
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln) rs1264176305 0.00001
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg) rs199473001 0.00001
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln) rs199473439 0.00001
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu) rs1339223823 0.00001
NM_000238.4(KCNH2):c.2832G>T (p.Glu944Asp) rs1232364499 0.00001
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514 0.00001
NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr) rs754362735 0.00001
NM_000238.4(KCNH2):c.3013C>T (p.Arg1005Trp) rs1016101226 0.00001
NM_000238.4(KCNH2):c.3014G>A (p.Arg1005Gln) rs199473019 0.00001
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020 0.00001
NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly) rs199473024 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu) rs886062086 0.00001
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) rs150988911 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser) rs1210130846 0.00001
NM_000238.4(KCNH2):c.614C>T (p.Pro205Leu) rs1326885330 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959 0.00001
NM_000238.4(KCNH2):c.950A>G (p.Asn317Ser) rs779027664 0.00001
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu) rs104895214 0.00001
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp) rs758868622 0.00001
NM_000243.3(MEFV):c.1401G>A (p.Glu467=) rs1398639205 0.00001
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718 0.00001
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr) rs952604863 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter) rs780770024 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg) rs566082564 0.00001
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr) rs749052818 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala) rs756029520 0.00001
NM_000243.3(MEFV):c.426G>C (p.Leu142=) rs1465332482 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.48G>A (p.Leu16=) rs777381107 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu) rs777199024 0.00001
NM_000243.3(MEFV):c.524C>A (p.Pro175His) rs104895126 0.00001
NM_000243.3(MEFV):c.566G>T (p.Gly189Val) rs923516953 0.00001
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg) rs754679070 0.00001
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp) rs753623518 0.00001
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp) rs775020273 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys) rs757216434 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser) rs201764329 0.00001
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu) rs774878513 0.00001
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn) rs373767220 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1896+5G>A rs759870594 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.2254G>C (p.Val752Leu) rs1196350669 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000249.4(MLH1):c.821A>G (p.Lys274Arg) rs769958855 0.00001
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met) rs751431238 0.00001
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro) rs55653533 0.00001
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg) rs779447213 0.00001
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser) rs150980616 0.00001
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys) rs374840361 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser) rs767371843 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg) rs63750574 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2046T>C (p.Val682=) rs201456803 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu) rs1254433398 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000255.4(MMUT):c.954A>G (p.Glu318=) rs1471303851 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His) rs397515883 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu) rs748689012 0.00001
NM_000256.3(MYBPC3):c.1227-9C>A rs11570079 0.00001
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His) rs764849803 0.00001
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala) rs749310275 0.00001
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe) rs747686377 0.00001
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His) rs374255707 0.00001
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser) rs758901980 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr) rs761672176 0.00001
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val) rs727503200 0.00001
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser) rs1165486681 0.00001
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met) rs774348756 0.00001
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) rs549239819 0.00001
NM_000256.3(MYBPC3):c.1897+3G>A rs937023392 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met) rs369790992 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val) rs1188736507 0.00001
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu) rs1273374175 0.00001
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn) rs778851720 0.00001
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) rs730880577 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys) rs758421775 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser) rs1462884291 0.00001
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser) rs727503170 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) rs762225417 0.00001
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn) rs397516051 0.00001
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) rs756894628 0.00001
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000 0.00001
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met) rs748746951 0.00001
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln) rs730880629 0.00001
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn) rs780785242 0.00001
NM_000257.4(MYH7):c.1257+7C>A rs759480696 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr) rs775089432 0.00001
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser) rs1174863002 0.00001
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val) rs1339799654 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met) rs772442923 0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile) rs1343088568 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr) rs750204313 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.268A>G (p.Met90Val) rs769054108 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 0.00001
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu) rs730880762 0.00001
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe) rs768312155 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr) rs763564858 0.00001
NM_000257.4(MYH7):c.3245+2T>G rs113859723 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr) rs774812187 0.00001
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr) rs1487430775 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=) rs1361182615 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr) rs397516198 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys) rs1275262402 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile) rs730880795 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) rs730880806 0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) rs1257980330 0.00001
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) rs730880809 0.00001
NM_000257.4(MYH7):c.493A>G (p.Met165Val) rs730880839 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) rs1358888752 0.00001
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys) rs730880915 0.00001
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His) rs772008016 0.00001
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=) rs769875223 0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) rs144066768 0.00001
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp) rs149509691 0.00001
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp) rs748598020 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp) rs376668612 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala) rs1295948508 0.00001
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr) rs747451109 0.00001
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His) rs752553589 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln) rs1169518192 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803 0.00001
NM_000257.4(MYH7):c.969T>G (p.Ile323Met) rs730880861 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) rs761891361 0.00001
NM_000258.3(MYL3):c.507G>A (p.Val169=) rs1166390418 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) rs374329098 0.00001
NM_000258.3(MYL3):c.71C>T (p.Ala24Val) rs373278317 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1690+3A>G rs1555070313 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) rs375066152 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) rs746296177 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) rs1555062954 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514 0.00001
NM_000268.4(NF2):c.674G>A (p.Arg225Gln) rs543087642 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000271.5(NPC1):c.30C>T (p.Leu10=) rs1432179735 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173 0.00001
NM_000271.5(NPC1):c.3163C>A (p.Leu1055Met) rs776593644 0.00001
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr) rs536360132 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_000276.4(OCRL):c.115T>C (p.Tyr39His) rs756670728 0.00001
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr) rs1278754966 0.00001
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala) rs768629676 0.00001
NM_000276.4(OCRL):c.2582-9G>A rs2071705 0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile) rs762676076 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000278.5(PAX2):c.1021+137C>T rs1848496928 0.00001
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=) rs1386529275 0.00001
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln) rs199919058 0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=) rs201775091 0.00001
NM_000278.5(PAX2):c.616+5648T>C rs747453876 0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=) rs746316295 0.00001
NM_000278.5(PAX2):c.740G>A (p.Arg247His) rs747639879 0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) rs770703982 0.00001
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu) rs757989097 0.00001
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro) rs768330993 0.00001
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) rs104894177 0.00001
NM_000281.4(PCBD1):c.294A>G (p.Gln98=) rs773744136 0.00001
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala) rs376313696 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2854C>T (p.Leu952=) rs767430981 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) rs747895445 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) rs761597786 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.251G>A (p.Arg84Gln) rs1326556150 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val) rs767919784 0.00001
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) rs1215199829 0.00001
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val) rs545898956 0.00001
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) rs370039125 0.00001
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu) rs1034653764 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser) rs754748178 0.00001
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His) rs772498138 0.00001
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp) rs772221158 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) rs376754460 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.179-4G>T rs776262869 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.390C>T (p.Ser130=) rs763944822 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.523+8A>G rs374840518 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.690C>T (p.Ser230=) rs769332588 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) rs768759265 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) rs200012319 0.00001
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) rs374476971 0.00001
NM_000312.4(PROC):c.372C>G (p.Ser124Arg) rs939496684 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000312.4(PROC):c.881G>A (p.Ser294Asn) rs200721675 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) rs141122478 0.00001
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg) rs754149240 0.00001
NM_000313.4(PROS1):c.469+5G>A rs756682607 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000316.3(PTH1R):c.1117-8T>C rs749389822 0.00001
NM_000316.3(PTH1R):c.615T>C (p.Ala205=) rs200829369 0.00001
NM_000316.3(PTH1R):c.691A>G (p.Met231Val) rs1353904110 0.00001
NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) rs387907462 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser) rs1429553692 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys) rs760531609 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679 0.00001
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser) rs199473553 0.00001
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573 0.00001
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His) rs1475895120 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr) rs1380959630 0.00001
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp) rs762737339 0.00001
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys) rs764252430 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His) rs769349991 0.00001
NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys) rs199473167 0.00001
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp) rs765698507 0.00001
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=) rs2061655979 0.00001
NM_000335.5(SCN5A):c.2878C>A (p.Gln960Lys) rs199473590 0.00001
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp) rs41311135 0.00001
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp) rs1455337011 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly) rs1331765859 0.00001
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe) rs199473188 0.00001
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser) rs199473190 0.00001
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr) rs1481582794 0.00001
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val) rs199473194 0.00001
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser) rs371469522 0.00001
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198 0.00001
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr) rs762810998 0.00001
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr) rs993780673 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met) rs375509048 0.00001
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln) rs765907469 0.00001
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala) rs794728883 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile) rs371651284 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn) rs772508476 0.00001
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr) rs764188413 0.00001
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val) rs199473067 0.00001
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln) rs761369505 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser) rs1484635042 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.786C>T (p.Ser262=) rs753246399 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp) rs759383134 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) rs747116196 0.00001
NM_000337.6(SGCD):c.*5819G>T rs962759358 0.00001
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys) rs1324593212 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00001
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) rs774989723 0.00001
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) rs537641866 0.00001
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) rs1473447476 0.00001
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790 0.00001
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln) rs1560035364 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=) rs772223467 0.00001
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=) rs368554884 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu) rs754053965 0.00001
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs) rs777575410 0.00001
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) rs777149216 0.00001
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) rs757439376 0.00001
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val) rs1397555319 0.00001
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val) rs1277952619 0.00001
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=) rs750528703 0.00001
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln) rs373203939 0.00001
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp) rs33915717 0.00001
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000343.4(SLC5A1):c.886-10T>C rs201709042 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235 0.00001
NM_000349.3(STAR):c.64+9T>C rs761733155 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met) rs767980304 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000353.3(TAT):c.1223C>T (p.Thr408Met) rs200815080 0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) rs758491525 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000361.3(THBD):c.119C>T (p.Pro40Leu) rs766710327 0.00001
NM_000361.3(THBD):c.1319C>T (p.Thr440Met) rs1438620913 0.00001
NM_000361.3(THBD):c.1499C>T (p.Thr500Met) rs753344243 0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn) rs572623850 0.00001
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser) rs775671453 0.00001
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg) rs138861385 0.00001
NM_000361.3(THBD):c.236G>C (p.Gly79Ala) rs1800577 0.00001
NM_000361.3(THBD):c.247C>G (p.Arg83Gly) rs748313651 0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala) rs757422951 0.00001
NM_000363.5(TNNI3):c.-45C>T rs1242688089 0.00001
NM_000363.5(TNNI3):c.108+2T>G rs1057520417 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg) rs367672692 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) rs1845627444 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.2208+7A>G rs777732621 0.00001
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) rs773784532 0.00001
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu) rs749414404 0.00001
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) rs1449821288 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.2975+6A>T rs1060503220 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804 0.00001
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) rs745475737 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu) rs535397245 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.170T>C (p.Leu57Pro) rs200401152 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) rs11541800 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) rs1322942118 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000376.3(VDR):c.257A>G (p.Asp86Gly) rs534768058 0.00001
NM_000376.3(VDR):c.311G>A (p.Arg104Gln) rs749763626 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.2198-2A>C rs1281159761 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.2299A>G (p.Thr767Ala) rs367726228 0.00001
NM_000379.4(XDH):c.2858T>G (p.Leu953Arg) rs137975977 0.00001
NM_000379.4(XDH):c.3059C>T (p.Ala1020Val) rs536923494 0.00001
NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly) rs777296789 0.00001
NM_000379.4(XDH):c.3354C>G (p.Val1118=) rs750811341 0.00001
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) rs142988357 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr) rs2295474 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000379.4(XDH):c.826C>T (p.Pro276Ser) rs1442917442 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe) rs267599180 0.00001
NM_000384.3(APOB):c.1004T>C (p.Leu335Pro) rs759295942 0.00001
NM_000384.3(APOB):c.10261A>G (p.Met3421Val) rs1371028457 0.00001
NM_000384.3(APOB):c.10270T>C (p.Ser3424Pro) rs1425159052 0.00001
NM_000384.3(APOB):c.10314G>T (p.Met3438Ile) rs761164094 0.00001
NM_000384.3(APOB):c.1077T>G (p.Ser359Arg) rs752605091 0.00001
NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn) rs776068398 0.00001
NM_000384.3(APOB):c.11374C>T (p.Pro3792Ser) rs767327489 0.00001
NM_000384.3(APOB):c.11760C>T (p.Thr3920=) rs372222161 0.00001
NM_000384.3(APOB):c.11946G>A (p.Ala3982=) rs776183349 0.00001
NM_000384.3(APOB):c.12025G>A (p.Val4009Met) rs140424976 0.00001
NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser) rs776875782 0.00001
NM_000384.3(APOB):c.1216C>T (p.Leu406Phe) rs1663905539 0.00001
NM_000384.3(APOB):c.12340T>C (p.Trp4114Arg) rs750904831 0.00001
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser) rs201208445 0.00001
NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter) rs907126709 0.00001
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys) rs761260344 0.00001
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn) rs763668912 0.00001
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter) rs142066904 0.00001
NM_000384.3(APOB):c.13319T>C (p.Val4440Ala) rs953483853 0.00001
NM_000384.3(APOB):c.1331C>T (p.Ala444Val) rs769425660 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970 0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg) rs904819460 0.00001
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln) rs202001155 0.00001
NM_000384.3(APOB):c.2144T>G (p.Val715Gly) rs1663743872 0.00001
NM_000384.3(APOB):c.2333G>A (p.Arg778His) rs201595604 0.00001
NM_000384.3(APOB):c.2335A>G (p.Ile779Val) rs763559077 0.00001
NM_000384.3(APOB):c.2414C>G (p.Thr805Ser) rs1291440333 0.00001
NM_000384.3(APOB):c.2605-6T>A rs1558570194 0.00001
NM_000384.3(APOB):c.2676G>A (p.Pro892=) rs759072451 0.00001
NM_000384.3(APOB):c.2849C>T (p.Thr950Met) rs187506285 0.00001
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu) rs763052786 0.00001
NM_000384.3(APOB):c.2967C>T (p.Ser989=) rs773461882 0.00001
NM_000384.3(APOB):c.3046G>C (p.Val1016Leu) rs770892328 0.00001
NM_000384.3(APOB):c.3147G>C (p.Met1049Ile) rs556469321 0.00001
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg) rs760203474 0.00001
NM_000384.3(APOB):c.3997C>G (p.Arg1333Gly) rs121918383 0.00001
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954 0.00001
NM_000384.3(APOB):c.4156C>T (p.Arg1386Trp) rs201270852 0.00001
NM_000384.3(APOB):c.460C>G (p.Leu154Val) rs914357651 0.00001
NM_000384.3(APOB):c.5203G>A (p.Gly1735Arg) rs1173916995 0.00001
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr) rs750451480 0.00001
NM_000384.3(APOB):c.6092G>C (p.Ser2031Thr) rs776946940 0.00001
NM_000384.3(APOB):c.638A>T (p.Asp213Val) rs370711366 0.00001
NM_000384.3(APOB):c.6698T>C (p.Ile2233Thr) rs1176839033 0.00001
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr) rs1249838546 0.00001
NM_000384.3(APOB):c.679C>G (p.Leu227Val) rs146880648 0.00001
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His) rs146593015 0.00001
NM_000384.3(APOB):c.7717T>G (p.Trp2573Gly) rs763937444 0.00001
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe) rs1408828737 0.00001
NM_000384.3(APOB):c.81C>G (p.Ala27=) rs768732556 0.00001
NM_000384.3(APOB):c.8851G>A (p.Glu2951Lys) rs755952082 0.00001
NM_000384.3(APOB):c.9467C>A (p.Thr3156Lys) rs747569141 0.00001
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys) rs748318755 0.00001
NM_000384.3(APOB):c.9692A>G (p.Asp3231Gly) rs778780703 0.00001
NM_000384.3(APOB):c.9815A>G (p.Tyr3272Cys) rs1220960430 0.00001
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter) rs151340616 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.509-6C>G rs778046473 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys) rs748479566 0.00001
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3716A>G (p.His1239Arg) rs773321546 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser) rs774888582 0.00001
NM_000397.4(CYBB):c.772C>G (p.Pro258Ala) rs1384465552 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) rs188272653 0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) rs28933074 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) rs369978622 0.00001
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) rs776042035 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln) rs148103319 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) rs566853691 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) rs1313279253 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000428.3(LTBP2):c.2788+14G>A rs753628301 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) rs727504405 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.206T>C (p.Met69Thr) rs2071674449 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser) rs763212486 0.00001
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val) rs766139231 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) rs552050976 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) rs775973349 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.1966-10C>G rs771050789 0.00001
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala) rs201394441 0.00001
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) rs765144719 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000455.5(STK11):c.1012G>A (p.Val338Met) rs587782302 0.00001
NM_000455.5(STK11):c.1183A>G (p.Thr395Ala) rs587782138 0.00001
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys) rs1060499968 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile) rs1199229728 0.00001
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) rs1321074352 0.00001
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) rs886044683 0.00001
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr) rs779527817 0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) rs730881408 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.1672T>C (p.Ser558Pro) rs587782122 0.00001
NM_000465.4(BARD1):c.1780G>T (p.Ala594Ser) rs1036544558 0.00001
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly) rs767765131 0.00001
NM_000465.4(BARD1):c.201G>C (p.Glu67Asp) rs1385746925 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000465.4(BARD1):c.632T>C (p.Leu211Ser) rs762171436 0.00001
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro) rs751646468 0.00001
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) rs587780038 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000478.6(ALPL):c.1047G>T (p.Leu349=) rs771632536 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1143C>T (p.His381=) rs749419329 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) rs781543452 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.282C>T (p.Phe94=) rs746608270 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.297+9C>A rs773328385 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.582T>C (p.Pro194=) rs112063292 0.00001
NM_000478.6(ALPL):c.660G>T (p.Gly220=) rs1558552231 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His) rs928833763 0.00001
NM_000481.4(AMT):c.29G>A (p.Arg10His) rs150649086 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000485.3(APRT):c.1A>G (p.Met1Val) rs930107496 0.00001
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) rs3169258 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000485.3(APRT):c.385C>T (p.Leu129=) rs376129456 0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met) rs104894330 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala) rs773399107 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val) rs745538406 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr) rs780528577 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val) rs1056986309 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000494.4(COL17A1):c.3419-10A>T rs1448663798 0.00001
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) rs776234575 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) rs775013399 0.00001
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=) rs778601992 0.00001
NM_000497.4(CYP11B1):c.396-9C>T rs1324660372 0.00001
NM_000497.4(CYP11B1):c.596-8C>T rs1201914437 0.00001
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) rs1377203108 0.00001
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr) rs751047685 0.00001
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) rs778295450 0.00001
NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met) rs753988592 0.00001
NM_000498.3(CYP11B2):c.1200+1G>A rs761385416 0.00001
NM_000498.3(CYP11B2):c.1201-8G>A rs767809371 0.00001
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln) rs776680043 0.00001
NM_000498.3(CYP11B2):c.237C>T (p.Phe79=) rs1415124302 0.00001
NM_000498.3(CYP11B2):c.240-2A>G rs1442525444 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) rs763373087 0.00001
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545 0.00001
NM_000498.3(CYP11B2):c.954+7C>T rs772188358 0.00001
NM_000498.3(CYP11B2):c.978G>A (p.Thr326=) rs374863640 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000503.6(EYA1):c.-24G>T rs759264949 0.00001
NM_000503.6(EYA1):c.165G>A (p.Thr55=) rs745425275 0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) rs794727845 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys) rs374772533 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1309G>A (p.Val437Met) rs2088616485 0.00001
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn) rs1784060954 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile) rs371977895 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.118A>G (p.Ile40Val) rs765969972 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2022T>C (p.Asn674=) rs1320831782 0.00001
NM_000527.5(LDLR):c.2373C>T (p.Ser791=) rs751216643 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) rs774858755 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly) rs201138170 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val) rs376998134 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.876C>G (p.His292Gln) rs776893713 0.00001
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688 0.00001
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr) rs1306035279 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser) rs918016464 0.00001
NM_000537.4(REN):c.145C>T (p.Arg49Ter) rs121917741 0.00001
NM_000537.4(REN):c.267G>T (p.Glu89Asp) rs886045835 0.00001
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr) rs757271636 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln) rs538500669 0.00001
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys) rs1971294742 0.00001
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser) rs371645169 0.00001
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser) rs367995800 0.00001
NM_000540.3(RYR1):c.11193+3G>A rs886054400 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.1204A>G (p.Met402Val) rs766763626 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946 0.00001
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg) rs1309530680 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile) rs199660276 0.00001
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220 0.00001
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln) rs1313365429 0.00001
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser) rs1568583100 0.00001
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr) rs1337566743 0.00001
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn) rs774812209 0.00001
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr) rs759639541 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187 0.00001
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met) rs752668333 0.00001
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln) rs1912187896 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.1418G>A (p.Arg473His) rs538087438 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14869-5C>G rs1199304403 0.00001
NM_000540.3(RYR1):c.15022-14A>G rs1355487795 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys) rs757284447 0.00001
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met) rs4802472 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys) rs144845360 0.00001
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser) rs866990461 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp) rs371050482 0.00001
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met) rs201827275 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.2931G>A (p.Thr977=) rs771471004 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln) rs781550981 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg) rs1254584171 0.00001
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His) rs757261781 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser) rs377285238 0.00001
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser) rs773310568 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg) rs754104129 0.00001
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys) rs745920741 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=) rs727504130 0.00001
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile) rs747718728 0.00001
NM_000540.3(RYR1):c.46-5C>T rs774388278 0.00001
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala) rs1386118815 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His) rs957392274 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His) rs1248039154 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu) rs371317448 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp) rs1043076830 0.00001
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr) rs886054379 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr) rs1186616874 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=) rs138617219 0.00001
NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys) rs750951875 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys) rs751654689 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys) rs923613797 0.00001
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu) rs776163386 0.00001
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile) rs1471770301 0.00001
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu) rs768399513 0.00001
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile) rs193922824 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys) rs1222041246 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 0.00001
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His) rs1254090942 0.00001
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln) rs766961940 0.00001
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe) rs1242495143 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.847C>T (p.His283Tyr) rs753985252 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu) rs1377413977 0.00001
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr) rs754966992 0.00001
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His) rs1414706865 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly) rs1970766556 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg) rs370851939 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met) rs771264217 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1443+19G>A rs1219381067 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1717-14T>C rs780658386 0.00001
NM_000548.5(TSC2):c.1717-16C>T rs45517191 0.00001
NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly) rs765043471 0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556 0.00001
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala) rs1295352648 0.00001
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn) rs1334081822 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro) rs878854079 0.00001
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 0.00001
NM_000548.5(TSC2):c.225+12C>A rs886038352 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_000548.5(TSC2):c.233T>C (p.Val78Ala) rs1163221525 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2466G>A (p.Ala822=) rs141728350 0.00001
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457 0.00001
NM_000548.5(TSC2):c.2778C>T (p.Asp926=) rs776069297 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly) rs2089595149 0.00001
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro) rs767655384 0.00001
NM_000548.5(TSC2):c.336+10A>G rs587778005 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506 0.00001
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 0.00001
NM_000548.5(TSC2):c.3732C>T (p.His1244=) rs1264194267 0.00001
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3814+10A>G rs200309006 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546 0.00001
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238 0.00001
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) rs766916450 0.00001
NM_000548.5(TSC2):c.4494-12C>T rs780056359 0.00001
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser) rs1468281970 0.00001
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly) rs777406873 0.00001
NM_000548.5(TSC2):c.4569+5G>A rs746446349 0.00001
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361 0.00001
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=) rs930171871 0.00001
NM_000548.5(TSC2):c.4850-12G>A rs371810493 0.00001
NM_000548.5(TSC2):c.4850-18G>A rs902020009 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=) rs878854113 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) rs1373235682 0.00001
NM_000548.5(TSC2):c.5400G>C (p.Val1800=) rs777327091 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.648+17C>A rs755431618 0.00001
NM_000548.5(TSC2):c.693G>A (p.Leu231=) rs764417359 0.00001
NM_000548.5(TSC2):c.848+10G>A rs1405925936 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala) rs372225049 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.40G>C (p.Gly14Arg) rs1060503559 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000553.6(WRN):c.1457C>T (p.Thr486Met) rs761328537 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.655-20A>G rs1056118121 0.00001
NM_000553.6(WRN):c.725-3del rs778493200 0.00001
NM_000631.5(NCF4):c.655T>C (p.Phe219Leu) rs761212596 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822 0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-2A>G rs1253347170 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys) rs749163043 0.00001
NM_000642.3(AGL):c.3259+1G>A rs1394576194 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser) rs766592371 0.00001
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) rs546855663 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.996C>A (p.His332Gln) rs780811320 0.00001
NM_000685.5(AGTR1):c.1080A>G (p.Ter360Trp) rs778604981 0.00001
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796 0.00001
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) rs794727222 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys) rs753452195 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=) rs752842357 0.00001
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys) rs762162937 0.00001
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) rs749561588 0.00001
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) rs768034509 0.00001
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) rs369638898 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146 0.00001
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=) rs370662635 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3717+4A>G rs1184709095 0.00001
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) rs200206894 0.00001
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val) rs1032623545 0.00001
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) rs1243482248 0.00001
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=) rs758486779 0.00001
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu) rs958489483 0.00001
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg) rs1178438128 0.00001
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=) rs780157730 0.00001
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) rs1464980383 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe) rs907730518 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000732.6(CD3D):c.407-2A>G rs1341165259 0.00001
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 0.00001
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066 0.00001
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) rs764887214 0.00001
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met) rs200063611 0.00001
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=) rs572366184 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) rs769249583 0.00001
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser) rs748390637 0.00001
NM_000781.3(CYP11A1):c.358del (p.Arg120fs) rs1287871034 0.00001
NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg) rs772561154 0.00001
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser) rs776627911 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) rs373902459 0.00001
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser) rs1413437455 0.00001
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe) rs1238041646 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) rs546648396 0.00001
NM_000789.4(ACE):c.2090C>A (p.Thr697Asn) rs765315607 0.00001
NM_000789.4(ACE):c.2189C>A (p.Ala730Glu) rs767880620 0.00001
NM_000789.4(ACE):c.2857C>T (p.Arg953Trp) rs772888815 0.00001
NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala) rs540734174 0.00001
NM_000789.4(ACE):c.3090G>T (p.Lys1030Asn) rs374679629 0.00001
NM_000789.4(ACE):c.447G>C (p.Arg149Ser) rs766945182 0.00001
NM_000789.4(ACE):c.590G>A (p.Gly197Asp) rs753361228 0.00001
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly) rs1164930036 0.00001
NM_000834.5(GRIN2B):c.2759G>A (p.Ser920Asn) rs781442804 0.00001
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala) rs766058202 0.00001
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met) rs185412918 0.00001
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp) rs757877367 0.00001
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys) rs781022847 0.00001
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn) rs752310426 0.00001
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=) rs780052854 0.00001
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile) rs771161358 0.00001
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=) rs758377412 0.00001
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp) rs746522890 0.00001
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) rs772877248 0.00001
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln) rs746240972 0.00001
NM_000890.5(KCNJ5):c.906G>T (p.Val302=) rs533482437 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys) rs774066754 0.00001
NM_000939.4(POMC):c.-11C>A rs753856820 0.00001
NM_000939.4(POMC):c.491C>T (p.Ala164Val) rs773522618 0.00001
NM_000944.5(PPP3CA):c.125G>A (p.Arg42His) rs762386324 0.00001
NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met) rs745416220 0.00001
NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=) rs1196954163 0.00001
NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln) rs368195162 0.00001
NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) rs199874915 0.00001
NM_000944.5(PPP3CA):c.519C>T (p.Arg173=) rs752462646 0.00001
NM_000944.5(PPP3CA):c.783-7del rs746185638 0.00001
NM_000944.5(PPP3CA):c.829A>G (p.Ile277Val) rs540250871 0.00001
NM_000944.5(PPP3CA):c.861-14T>A rs780952005 0.00001
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp) rs761676499 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 0.00001
NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=) rs572012976 0.00001
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=) rs1319482740 0.00001
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=) rs756989097 0.00001
NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=) rs764090881 0.00001
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr) rs199795977 0.00001
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln) rs756000218 0.00001
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser) rs143397927 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr) rs1956376395 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.536A>G (p.His179Arg) rs1371222715 0.00001
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln) rs765477952 0.00001
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile) rs543281875 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met) rs199701968 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001008388.5(CISD2):c.103+6C>A rs1271190440 0.00001
NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) rs868634687 0.00001
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 0.00001
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) rs939123022 0.00001
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001018005.2(TPM1):c.-7C>A rs370871307 0.00001
NM_001018005.2(TPM1):c.114+3C>T rs112677344 0.00001
NM_001018005.2(TPM1):c.115-5C>G rs753196985 0.00001
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.314G>A (p.Arg105His) rs773149185 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.563+6C>T rs397516378 0.00001
NM_001018005.2(TPM1):c.630G>T (p.Gln210His) rs761816813 0.00001
NM_001018005.2(TPM1):c.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.93G>C (p.Ala31=) rs770661916 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) rs764205355 0.00001
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) rs373757862 0.00001
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu) rs374940277 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 0.00001
NM_001018115.3(FANCD2):c.4281+22_4281+29del rs878855172 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1278+9A>G rs774535665 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu) rs148326029 0.00001
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001032386.2(SUOX):c.1531G>A (p.Val511Met) rs189671778 0.00001
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007 0.00001
NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala) rs151290164 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His) rs1229045575 0.00001
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) rs747138259 0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) rs375947003 0.00001
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) rs894881755 0.00001
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020 0.00001
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417 0.00001
NM_001035.3(RYR2):c.1115T>A (p.Leu372His) rs763658621 0.00001
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe) rs1430332496 0.00001
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp) rs1172947190 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) rs1178157004 0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) rs371396204 0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) rs769146715 0.00001
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) rs1361307283 0.00001
NM_001035.3(RYR2):c.1320G>A (p.Ala440=) rs887478410 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val) rs775428443 0.00001
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) rs778498741 0.00001
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) rs1268914442 0.00001
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742 0.00001
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) rs1479892874 0.00001
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln) rs765389300 0.00001
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn) rs777414943 0.00001
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) rs376243998 0.00001
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr) rs780965490 0.00001
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) rs1227019047 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu) rs1404965456 0.00001
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) rs779146564 0.00001
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) rs774797663 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu) rs769163639 0.00001
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys) rs764144130 0.00001
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) rs1353376223 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser) rs760731968 0.00001
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=) rs758277755 0.00001
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu) rs368669045 0.00001
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His) rs551362343 0.00001
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) rs1158268722 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 0.00001
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) rs1057524513 0.00001
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn) rs1558114884 0.00001
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) rs934248102 0.00001
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) rs772541555 0.00001
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) rs776908944 0.00001
NM_001035.3(RYR2):c.808C>T (p.His270Tyr) rs745558219 0.00001
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu) rs956317332 0.00001
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) rs1688441480 0.00001
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr) rs1472732790 0.00001
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) rs773957909 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) rs794728766 0.00001
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) rs1558793119 0.00001
NM_001036.6(RYR3):c.11420C>A (p.Ala3807Glu) rs757214631 0.00001
NM_001037.5(SCN1B):c.*305C>T rs950244470 0.00001
NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys) rs757554677 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=) rs181115510 0.00001
NM_001037.5(SCN1B):c.448+103C>T rs372041274 0.00001
NM_001037.5(SCN1B):c.448+123C>T rs771174760 0.00001
NM_001037.5(SCN1B):c.448+192C>T rs72558027 0.00001
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp) rs749338180 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys) rs750561732 0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899 0.00001
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg) rs371050389 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.2024G>A (p.Arg675His) rs375528540 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001041.4(SI):c.1057C>A (p.Leu353Ile) rs539049352 0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr) rs777261367 0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala) rs551453053 0.00001
NM_001041.4(SI):c.186A>G (p.Lys62=) rs368169891 0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val) rs770724135 0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr) rs542969966 0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=) rs377552984 0.00001
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter) rs1000661675 0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile) rs1307836828 0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile) rs140725570 0.00001
NM_001041.4(SI):c.3423+3A>G rs766943944 0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys) rs966189337 0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala) rs753519683 0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=) rs767992819 0.00001
NM_001041.4(SI):c.4008A>G (p.Pro1336=) rs747858019 0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr) rs796683088 0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe) rs371768147 0.00001
NM_001042413.2(GLIS3):c.1210C>A (p.Gln404Lys) rs751660790 0.00001
NM_001042413.2(GLIS3):c.1272G>A (p.Ser424=) rs764287243 0.00001
NM_001042413.2(GLIS3):c.1416G>T (p.Glu472Asp) rs772552747 0.00001
NM_001042413.2(GLIS3):c.220G>A (p.Val74Met) rs768657630 0.00001
NM_001042413.2(GLIS3):c.2350G>C (p.Ala784Pro) rs754312328 0.00001
NM_001042413.2(GLIS3):c.2503C>G (p.Pro835Ala) rs753899353 0.00001
NM_001042413.2(GLIS3):c.555A>C (p.Ala185=) rs752433935 0.00001
NM_001042413.2(GLIS3):c.596+6A>C rs772180668 0.00001
NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271 0.00001
NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) rs201168980 0.00001
NM_001042432.2(CLN3):c.538G>A (p.Val180Met) rs202215629 0.00001
NM_001042475.3(CEP85L):c.1020+17181A>T rs779232815 0.00001
NM_001042475.3(CEP85L):c.1020+17347A>G rs1230141633 0.00001
NM_001042492.3(NF1):c.-148C>A rs886052792 0.00001
NM_001042492.3(NF1):c.1062+7T>C rs979521240 0.00001
NM_001042492.3(NF1):c.1185+7G>A rs1322791959 0.00001
NM_001042492.3(NF1):c.1186-12C>G rs1473811436 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1356A>G (p.Gln452=) rs1324833228 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3198-4_3198-3dup rs1555614809 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 0.00001
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863 0.00001
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.3871-18A>G rs748424913 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=) rs864622406 0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=) rs754023358 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=) rs864622747 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 0.00001
NM_001042492.3(NF1):c.5269-19C>T rs755620051 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.60+11C>T rs565515877 0.00001
NM_001042492.3(NF1):c.6006+17A>G rs748186225 0.00001
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=) rs780247942 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6922-8T>C rs191255643 0.00001
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln) rs1567618937 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465 0.00001
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=) rs1350755921 0.00001
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=) rs762081710 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=) rs759005886 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 0.00001
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser) rs1555536370 0.00001
NM_001042492.3(NF1):c.7615+19T>C rs773687866 0.00001
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 0.00001
NM_001042492.3(NF1):c.7869+9T>C rs940367528 0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7970+16T>G rs967311672 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.889-6del rs864622362 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser) rs778692247 0.00001
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=) rs190643141 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) rs376802988 0.00001
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) rs548545596 0.00001
NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu) rs754626458 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys) rs767747402 0.00001
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) rs587780085 0.00001
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile) rs763273196 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp) rs752114814 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001059.3(TACR3):c.1234G>A (p.Val412Met) rs151158699 0.00001
NM_001059.3(TACR3):c.1289C>T (p.Thr430Met) rs200736098 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile) rs200630726 0.00001
NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu) rs778902854 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=) rs1285254792 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.889+1G>T rs1057516346 0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) rs1197613485 0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) rs1280810181 0.00001
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val) rs779805975 0.00001
NM_001080.3(ALDH5A1):c.1015-2A>C rs769111673 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter) rs149592537 0.00001
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser) rs1315323909 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001080512.3(BICC1):c.1910C>A (p.Ser637Tyr) rs750664643 0.00001
NM_001080512.3(BICC1):c.707A>G (p.Asn236Ser) rs532086549 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=) rs778997367 0.00001
NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe) rs202236628 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348 0.00001
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=) rs1944100964 0.00001
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062 0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr) rs778099828 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser) rs1311487466 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln) rs141434302 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=) rs1659474774 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro) rs769940120 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys) rs754834889 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val) rs769564893 0.00001
NM_001103.4(ACTN2):c.698-1179G>A rs1317190224 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001105206.3(LAMA4):c.133del (p.Gln45fs) rs1341828711 0.00001
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile) rs782547342 0.00001
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val) rs781939403 0.00001
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe) rs782305599 0.00001
NM_001105206.3(LAMA4):c.1525A>C (p.Thr509Pro) rs951225457 0.00001
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg) rs782192817 0.00001
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys) rs782385471 0.00001
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg) rs751004946 0.00001
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr) rs782574915 0.00001
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser) rs782428669 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro) rs536755553 0.00001
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=) rs727503114 0.00001
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter) rs782727584 0.00001
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) rs542157463 0.00001
NM_001105206.3(LAMA4):c.4008G>C (p.Lys1336Asn) rs373047072 0.00001
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg) rs876657843 0.00001
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu) rs782273793 0.00001
NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val) rs782696599 0.00001
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His) rs781976795 0.00001
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val) rs368316926 0.00001
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=) rs199593652 0.00001
NM_001105206.3(LAMA4):c.5062G>A (p.Gly1688Ser) rs782194407 0.00001
NM_001105206.3(LAMA4):c.5206+1G>A rs368035482 0.00001
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser) rs201820268 0.00001
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg) rs377633183 0.00001
NM_001105206.3(LAMA4):c.913G>A (p.Ala305Thr) rs782325733 0.00001
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser) rs1029188462 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu) rs763695856 0.00001
NM_001111.5(ADAR):c.1062T>G (p.His354Gln) rs767103774 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) rs762094056 0.00001
NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys) rs1243389624 0.00001
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) rs565007212 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) rs200186938 0.00001
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) rs762294213 0.00001
NM_001113378.2(FANCI):c.1698+6G>T rs762886638 0.00001
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) rs201641791 0.00001
NM_001113378.2(FANCI):c.1A>G (p.Met1Val) rs781249928 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) rs911033971 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) rs1421332670 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419 0.00001
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) rs767462150 0.00001
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) rs151267266 0.00001
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081 0.00001
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) rs150387641 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) rs1343059856 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601 0.00001
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326 0.00001
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) rs757106031 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) rs780404413 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) rs778263817 0.00001
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001122630.2(CDKN1C):c.-8C>T rs1300493378 0.00001
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) rs1262607893 0.00001
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala) rs1323691763 0.00001
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) rs878853642 0.00001
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071 0.00001
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys) rs956525226 0.00001
NM_001122681.2(SH3BP2):c.428+1G>C rs769264475 0.00001
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) rs1211847666 0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) rs749315755 0.00001
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter) rs1453987164 0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=) rs1215392195 0.00001
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.2037+10C>T rs774757777 0.00001
NM_001126108.2(SLC12A3):c.2038-6C>T rs1287454816 0.00001
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=) rs745611719 0.00001
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=) rs1269639917 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001126108.2(SLC12A3):c.333C>T (p.His111=) rs867887117 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) rs751409326 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.741+9G>A rs761526794 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp) rs863223772 0.00001
NM_001127217.3(SMAD9):c.679C>A (p.Pro227Thr) rs1429353457 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) rs775530423 0.00001
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) rs1746736672 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) rs200953235 0.00001
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala) rs935163999 0.00001
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val) rs2094940956 0.00001
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val) rs775056182 0.00001
NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr) rs146540139 0.00001
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala) rs145573139 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) rs750048459 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980 0.00001
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) rs1372902099 0.00001
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln) rs375071568 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) rs772518246 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu) rs199827126 0.00001
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys) rs886043489 0.00001
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=) rs749130573 0.00001
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln) rs878854247 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) rs780367353 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.1276-8T>A rs886046704 0.00001
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del) rs1229525146 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1881-1G>C rs1424661837 0.00001
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser) rs767451635 0.00001
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) rs772991270 0.00001
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=) rs1060504913 0.00001
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser) rs1279998131 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly) rs1161452943 0.00001
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro) rs1361123068 0.00001
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys) rs1463526980 0.00001
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr) rs890053031 0.00001
NM_001134363.3(RBM20):c.321G>C (p.Gln107His) rs1413181007 0.00001
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys) rs1338307495 0.00001
NM_001134363.3(RBM20):c.359del (p.Leu120fs) rs1173576141 0.00001
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) rs1060503413 0.00001
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) rs1033220280 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) rs940901720 0.00001
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His) rs777505684 0.00001
NM_001134407.3(GRIN2A):c.1279G>C (p.Glu427Gln) rs560839364 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001136191.3(KANK2):c.1369C>T (p.Pro457Ser) rs376385754 0.00001
NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) rs1204974208 0.00001
NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) rs374830420 0.00001
NM_001136193.2(FASTKD2):c.319C>G (p.Leu107Val) rs760522658 0.00001
NM_001136193.2(FASTKD2):c.782G>A (p.Arg261His) rs918461594 0.00001
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter) rs751316870 0.00001
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn) rs761318837 0.00001
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala) rs372948826 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu) rs561156283 0.00001
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser) rs1767601964 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser) rs762475623 0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr) rs537922564 0.00001
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg) rs765650947 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys) rs988163418 0.00001
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=) rs1215751447 0.00001
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) rs186462241 0.00001
NM_001144967.3(NEDD4L):c.1033G>A (p.Asp345Asn) rs375898604 0.00001
NM_001144967.3(NEDD4L):c.1446A>G (p.Pro482=) rs773408353 0.00001
NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln) rs1365042367 0.00001
NM_001144967.3(NEDD4L):c.1676A>G (p.His559Arg) rs958611451 0.00001
NM_001144967.3(NEDD4L):c.2205T>G (p.Phe735Leu) rs1242218314 0.00001
NM_001144967.3(NEDD4L):c.2465A>C (p.Lys822Thr) rs778557607 0.00001
NM_001144967.3(NEDD4L):c.2676C>T (p.Ala892=) rs764595394 0.00001
NM_001144967.3(NEDD4L):c.328G>A (p.Val110Met) rs777311647 0.00001
NM_001144967.3(NEDD4L):c.348+9A>G rs543228992 0.00001
NM_001144967.3(NEDD4L):c.534C>G (p.Asp178Glu) rs903587997 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001148.6(ANK2):c.10084T>A (p.Ser3362Thr) rs923915013 0.00001
NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg) rs1171741008 0.00001
NM_001148.6(ANK2):c.10223G>A (p.Arg3408Gln) rs759274800 0.00001
NM_001148.6(ANK2):c.10264G>A (p.Glu3422Lys) rs758710640 0.00001
NM_001148.6(ANK2):c.10370C>T (p.Thr3457Met) rs900955620 0.00001
NM_001148.6(ANK2):c.10375C>T (p.Pro3459Ser) rs761631834 0.00001
NM_001148.6(ANK2):c.10423A>G (p.Ile3475Val) rs751755180 0.00001
NM_001148.6(ANK2):c.10562C>T (p.Pro3521Leu) rs766421377 0.00001
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys) rs781552524 0.00001
NM_001148.6(ANK2):c.10660A>T (p.Asn3554Tyr) rs758868149 0.00001
NM_001148.6(ANK2):c.11027G>C (p.Ser3676Thr) rs886059017 0.00001
NM_001148.6(ANK2):c.11150T>A (p.Ile3717Asn) rs747566497 0.00001
NM_001148.6(ANK2):c.11302T>C (p.Tyr3768His) rs771710685 0.00001
NM_001148.6(ANK2):c.11398G>A (p.Glu3800Lys) rs1057522136 0.00001
NM_001148.6(ANK2):c.158G>C (p.Gly53Ala) rs769893243 0.00001
NM_001148.6(ANK2):c.1664C>T (p.Ala555Val) rs766431760 0.00001
NM_001148.6(ANK2):c.1756C>T (p.Arg586Cys) rs777474558 0.00001
NM_001148.6(ANK2):c.1994C>A (p.Pro665Gln) rs779699159 0.00001
NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln) rs751513548 0.00001
NM_001148.6(ANK2):c.285+12G>A rs752639381 0.00001
NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln) rs200124480 0.00001
NM_001148.6(ANK2):c.3295A>C (p.Ser1099Arg) rs779625857 0.00001
NM_001148.6(ANK2):c.3571C>T (p.Arg1191Trp) rs771751897 0.00001
NM_001148.6(ANK2):c.4249G>A (p.Val1417Ile) rs201966564 0.00001
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys) rs761254386 0.00001
NM_001148.6(ANK2):c.4930C>A (p.Leu1644Met) rs373344024 0.00001
NM_001148.6(ANK2):c.5153G>T (p.Gly1718Val) rs141790688 0.00001
NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys) rs2095587012 0.00001
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=) rs766217545 0.00001
NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala) rs771441107 0.00001
NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn) rs1227210695 0.00001
NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser) rs371556220 0.00001
NM_001148.6(ANK2):c.6586G>A (p.Gly2196Ser) rs776545207 0.00001
NM_001148.6(ANK2):c.6820C>T (p.Arg2274Cys) rs140258681 0.00001
NM_001148.6(ANK2):c.7082A>G (p.His2361Arg) rs745718831 0.00001
NM_001148.6(ANK2):c.7120G>T (p.Ala2374Ser) rs763277342 0.00001
NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met) rs769894397 0.00001
NM_001148.6(ANK2):c.7307C>T (p.Ser2436Phe) rs761246790 0.00001
NM_001148.6(ANK2):c.7528C>T (p.Leu2510Phe) rs1293101023 0.00001
NM_001148.6(ANK2):c.767G>C (p.Gly256Ala) rs1276798019 0.00001
NM_001148.6(ANK2):c.7742G>A (p.Arg2581Lys) rs369041815 0.00001
NM_001148.6(ANK2):c.8006A>T (p.Glu2669Val) rs773643165 0.00001
NM_001148.6(ANK2):c.805C>T (p.Pro269Ser) rs1260008727 0.00001
NM_001148.6(ANK2):c.8063G>A (p.Arg2688Gln) rs142107156 0.00001
NM_001148.6(ANK2):c.8137G>T (p.Val2713Phe) rs774978146 0.00001
NM_001148.6(ANK2):c.827G>A (p.Arg276Lys) rs786205719 0.00001
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg) rs551454026 0.00001
NM_001148.6(ANK2):c.8867C>G (p.Ser2956Cys) rs754378659 0.00001
NM_001148.6(ANK2):c.9163T>G (p.Phe3055Val) rs1158664416 0.00001
NM_001148.6(ANK2):c.9175G>T (p.Val3059Leu) rs761458371 0.00001
NM_001148.6(ANK2):c.9427C>G (p.Leu3143Val) rs776074680 0.00001
NM_001148.6(ANK2):c.9555C>T (p.Asp3185=) rs371509239 0.00001
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547 0.00001
NM_001148.6(ANK2):c.9656G>T (p.Ser3219Ile) rs371919804 0.00001
NM_001148.6(ANK2):c.9688A>G (p.Thr3230Ala) rs200594514 0.00001
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) rs1157004659 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) rs1459705932 0.00001
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) rs767963216 0.00001
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys) rs117227363 0.00001
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992 0.00001
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser) rs776752552 0.00001
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys) rs548487014 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp) rs773606388 0.00001
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=) rs780963309 0.00001
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=) rs776672631 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761 0.00001
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) rs200582171 0.00001
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) rs940803158 0.00001
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) rs914084997 0.00001
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) rs143092672 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) rs143731811 0.00001
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) rs1252723064 0.00001
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) rs866196138 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) rs201884545 0.00001
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) rs987609654 0.00001
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691 0.00001
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) rs142128765 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) rs576328904 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) rs929166866 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
NM_001171155.2(PET100):c.200G>A (p.Arg67His) rs556380451 0.00001
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) rs587777839 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) rs1233324021 0.00001
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) rs1233324021 0.00001
NM_001174147.2(LMX1B):c.1052-19C>T rs770215617 0.00001
NM_001174147.2(LMX1B):c.1201G>A (p.Ala401Thr) rs761796969 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 0.00001
NM_001174147.2(LMX1B):c.559G>A (p.Val187Met) rs765969991 0.00001
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NM_001177316.2(SLC34A3):c.1057C>T (p.Arg353Cys) rs750292913 0.00001
NM_001177316.2(SLC34A3):c.1063G>A (p.Ala355Thr) rs138702939 0.00001
NM_001177316.2(SLC34A3):c.1183T>C (p.Phe395Leu) rs560440785 0.00001
NM_001177316.2(SLC34A3):c.1234C>T (p.Arg412Trp) rs373242362 0.00001
NM_001177316.2(SLC34A3):c.1238C>T (p.Ala413Val) rs121918235 0.00001
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1252C>G (p.Leu418Val) rs778500281 0.00001
NM_001177316.2(SLC34A3):c.1517T>A (p.Leu506His) rs1017557592 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=) rs545784124 0.00001
NM_001177316.2(SLC34A3):c.1783G>A (p.Ala595Thr) rs748004842 0.00001
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=) rs1040164729 0.00001
NM_001177316.2(SLC34A3):c.547G>A (p.Asp183Asn) rs750369891 0.00001
NM_001177316.2(SLC34A3):c.561-9C>T rs1469811548 0.00001
NM_001177316.2(SLC34A3):c.682A>G (p.Ser228Gly) rs766506036 0.00001
NM_001177316.2(SLC34A3):c.846+1G>A rs754054340 0.00001
NM_001177316.2(SLC34A3):c.868G>A (p.Gly290Ser) rs758514484 0.00001
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg) rs796052261 0.00001
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) rs763130593 0.00001
NM_001184.4(ATR):c.7349+2T>C rs200556378 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=) rs767511014 0.00001
NM_001195305.3(BBIP1):c.177A>T (p.Lys59Asn) rs1845964280 0.00001
NM_001195305.3(BBIP1):c.50T>A (p.Ile17Lys) rs879329788 0.00001
NM_001195305.3(BBIP1):c.85A>G (p.Met29Val) rs964029226 0.00001
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter) rs199685258 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) rs777501416 0.00001
NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) rs759804753 0.00001
NM_001204.7(BMPR2):c.1863G>A (p.Thr621=) rs753528525 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.983C>T (p.Ala328Val) rs759940341 0.00001
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=) rs1257129141 0.00001
NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val) rs772170723 0.00001
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys) rs760085736 0.00001
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys) rs1212671249 0.00001
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) rs750610809 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) rs1662794808 0.00001
NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=) rs765198709 0.00001
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) rs780246397 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2492+13C>T rs199746830 0.00001
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) rs1409419107 0.00001
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) rs1157282902 0.00001
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) rs1247641472 0.00001
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=) rs750104265 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met) rs374794257 0.00001
NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp) rs368577433 0.00001
NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys) rs770455518 0.00001
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met) rs1559472826 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) rs199702225 0.00001
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro) rs534298243 0.00001
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp) rs966788457 0.00001
NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile) rs545243133 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=) rs767889885 0.00001
NM_001267550.2(TTN):c.-217G>A rs886055311 0.00001
NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr) rs72648283 0.00001
NM_001267550.2(TTN):c.100429G>C (p.Glu33477Gln) rs794729556 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.10070C>T (p.Ser3357Phe) rs886042377 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys) rs1484936368 0.00001
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn) rs377406091 0.00001
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp) rs1172459056 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr) rs779369864 0.00001
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys) rs768930172 0.00001
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys) rs765213170 0.00001
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro) rs947426325 0.00001
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg) rs371753532 0.00001
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn) rs878913368 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn) rs1430662349 0.00001
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln) rs775049806 0.00001
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys) rs773467994 0.00001
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) rs753769495 0.00001
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr) rs1344770836 0.00001
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His) rs777774818 0.00001
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser) rs780028847 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp) rs763437247 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser) rs567191587 0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg) rs375572802 0.00001
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met) rs751243461 0.00001
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr) rs760758096 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu) rs763109620 0.00001
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg) rs794729572 0.00001
NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met) rs1437975298 0.00001
NM_001267550.2(TTN):c.11085C>T (p.His3695=) rs774236128 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly) rs1255499093 0.00001
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn) rs769466475 0.00001
NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile) rs749320093 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg) rs72648920 0.00001
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr) rs371669309 0.00001
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val) rs781488193 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly) rs564287456 0.00001
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe) rs794729602 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu) rs374361492 0.00001
NM_001267550.2(TTN):c.14092+5G>A rs757575983 0.00001
NM_001267550.2(TTN):c.14782C>T (p.Leu4928Phe) rs758924238 0.00001
NM_001267550.2(TTN):c.1537-2A>G rs749182164 0.00001
NM_001267550.2(TTN):c.15877A>C (p.Lys5293Gln) rs930814645 0.00001
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=) rs1278975928 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met) rs1041967765 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=) rs912253842 0.00001
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr) rs1365679296 0.00001
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu) rs201490999 0.00001
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=) rs991259759 0.00001
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln) rs753281535 0.00001
NM_001267550.2(TTN):c.19426+7A>G rs756760290 0.00001
NM_001267550.2(TTN):c.19715-3T>C rs2079629592 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro) rs767944090 0.00001
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met) rs371824963 0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met) rs765257439 0.00001
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu) rs753725329 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln) rs148072021 0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) rs786205401 0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val) rs374625641 0.00001
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys) rs1156609638 0.00001
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg) rs878854292 0.00001
NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser) rs749750693 0.00001
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) rs200677631 0.00001
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter) rs764687326 0.00001
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile) rs769333723 0.00001
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu) rs919783694 0.00001
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys) rs786205400 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.23747C>G (p.Pro7916Arg) rs764130233 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu) rs773761640 0.00001
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=) rs370099448 0.00001
NM_001267550.2(TTN):c.24322A>G (p.Lys8108Glu) rs776437978 0.00001
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=) rs772386098 0.00001
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu) rs375219172 0.00001
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln) rs759985618 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) rs1560628327 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile) rs72648993 0.00001
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg) rs766862084 0.00001
NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu) rs1203714029 0.00001
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val) rs765453217 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met) rs745792278 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg) rs397517529 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp) rs775854531 0.00001
NM_001267550.2(TTN):c.295+5G>A rs56310717 0.00001
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His) rs558220856 0.00001
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=) rs781508217 0.00001
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln) rs370072382 0.00001
NM_001267550.2(TTN):c.3027C>A (p.Asp1009Glu) rs794729523 0.00001
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=) rs878990074 0.00001
NM_001267550.2(TTN):c.30511+1G>C rs879082842 0.00001
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val) rs727504902 0.00001
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=) rs1015963344 0.00001
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) rs886055287 0.00001
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val) rs759873829 0.00001
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) rs573756163 0.00001
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met) rs764015733 0.00001
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe) rs753951400 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His) rs769393540 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.33419-2A>C rs756841034 0.00001
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu) rs1336824666 0.00001
NM_001267550.2(TTN):c.33890T>A (p.Val11297Glu) rs768802752 0.00001
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp) rs864309575 0.00001
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.34787-16C>T rs191530616 0.00001
NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala) rs371203499 0.00001
NM_001267550.2(TTN):c.36365-7T>C rs746341489 0.00001
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala) rs1168512202 0.00001
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu) rs864622709 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr) rs878854302 0.00001
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His) rs770419196 0.00001
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys) rs758150185 0.00001
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr) rs749860520 0.00001
NM_001267550.2(TTN):c.40222+6T>C rs1182693405 0.00001
NM_001267550.2(TTN):c.40408+20A>G rs750616546 0.00001
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu) rs371714559 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly) rs756446770 0.00001
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro) rs72650078 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His) rs540582993 0.00001
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) rs777451130 0.00001
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.42979G>A (p.Gly14327Arg) rs375403946 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met) rs775225695 0.00001
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly) rs796961766 0.00001
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) rs886055274 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.47875+6T>C rs780524253 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser) rs534426018 0.00001
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=) rs763809932 0.00001
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys) rs397517596 0.00001
NM_001267550.2(TTN):c.49396G>A (p.Ala16466Thr) rs755998484 0.00001
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile) rs774495753 0.00001
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys) rs140494897 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr) rs950940404 0.00001
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn) rs755153359 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg) rs757728544 0.00001
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu) rs764792715 0.00001
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser) rs759285989 0.00001
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys) rs1060500503 0.00001
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp) rs759091835 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln) rs766817830 0.00001
NM_001267550.2(TTN):c.53569G>A (p.Val17857Ile) rs1423994048 0.00001
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys) rs1016726284 0.00001
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys) rs201052994 0.00001
NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys) rs369438623 0.00001
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg) rs764772164 0.00001
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His) rs750125113 0.00001
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) rs368858337 0.00001
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met) rs761825854 0.00001
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser) rs1162176452 0.00001
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser) rs774591174 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.55727C>T (p.Pro18576Leu) rs1362095957 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly) rs777956655 0.00001
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu) rs745311218 0.00001
NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg) rs371437953 0.00001
NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr) rs886042564 0.00001
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro) rs780258242 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys) rs375305621 0.00001
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn) rs1009412718 0.00001
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val) rs56025724 0.00001
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys) rs747895202 0.00001
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) rs746319976 0.00001
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala) rs1215190215 0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala) rs886039085 0.00001
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met) rs727504208 0.00001
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met) rs375155937 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg) rs778953994 0.00001
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp) rs765839032 0.00001
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys) rs371014957 0.00001
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val) rs369388581 0.00001
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met) rs371004819 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys) rs767887086 0.00001
NM_001267550.2(TTN):c.63131T>C (p.Ile21044Thr) rs529879601 0.00001
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg) rs547169244 0.00001
NM_001267550.2(TTN):c.63187+5G>T rs1292388582 0.00001
NM_001267550.2(TTN):c.63527T>C (p.Leu21176Ser) rs72646854 0.00001
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) rs753121509 0.00001
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly) rs1218513536 0.00001
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln) rs746903647 0.00001
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) rs752724337 0.00001
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) rs765913263 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=) rs367880653 0.00001
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=) rs370123011 0.00001
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr) rs368042545 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys) rs879016147 0.00001
NM_001267550.2(TTN):c.66669G>A (p.Met22223Ile) rs1049450842 0.00001
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met) rs1393150545 0.00001
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu) rs764048936 0.00001
NM_001267550.2(TTN):c.67226C>T (p.Ser22409Phe) rs1296710770 0.00001
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His) rs1389670032 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.67637-9A>G rs2047164551 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys) rs373765319 0.00001
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro) rs879410317 0.00001
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu) rs953796748 0.00001
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser) rs756468956 0.00001
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly) rs1194442496 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val) rs549938348 0.00001
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met) rs754040141 0.00001
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr) rs794729488 0.00001
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn) rs771783837 0.00001
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp) rs748041610 0.00001
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr) rs1386956312 0.00001
NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile) rs727504188 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=) rs564938876 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly) rs573355547 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His) rs376988498 0.00001
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys) rs369489704 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln) rs758719859 0.00001
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln) rs757674072 0.00001
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys) rs116049561 0.00001
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=) rs770708534 0.00001
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) rs201776072 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr) rs747031357 0.00001
NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp) rs886042780 0.00001
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys) rs755800765 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.77329A>G (p.Lys25777Glu) rs778484596 0.00001
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp) rs745801476 0.00001
NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile) rs794729506 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile) rs375605062 0.00001
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00001
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala) rs370095455 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile) rs780885076 0.00001
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser) rs780082683 0.00001
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val) rs369908251 0.00001
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=) rs767101518 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=) rs372153745 0.00001
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) rs72648214 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=) rs757873540 0.00001
NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val) rs900858263 0.00001
NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr) rs1468127080 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp) rs770787056 0.00001
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=) rs748689777 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr) rs768120552 0.00001
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met) rs369380469 0.00001
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys) rs756679529 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00001
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln) rs755212831 0.00001
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp) rs750981091 0.00001
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala) rs1454670479 0.00001
NM_001267550.2(TTN):c.8921T>C (p.Met2974Thr) rs899464143 0.00001
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp) rs774885355 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del) rs758914867 0.00001
NM_001267550.2(TTN):c.90441C>A (p.His30147Gln) rs72648242 0.00001
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys) rs376537509 0.00001
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile) rs376287060 0.00001
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg) rs1206527 0.00001
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr) rs777150584 0.00001
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu) rs148676491 0.00001
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val) rs1023137329 0.00001
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) rs557737090 0.00001
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly) rs201344229 0.00001
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=) rs746325775 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=) rs1359929309 0.00001
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=) rs768927616 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly) rs886042114 0.00001
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg) rs757129504 0.00001
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser) rs199618831 0.00001
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu) rs368323634 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys) rs727504879 0.00001
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=) rs768594716 0.00001
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=) rs1317447790 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile) rs944963846 0.00001
NM_001267550.2(TTN):c.97943C>A (p.Thr32648Asn) rs775309560 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=) rs879159807 0.00001
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys) rs1407053984 0.00001
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser) rs913833972 0.00001
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=) rs199851404 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=) rs727504322 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=) rs200604266 0.00001
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln) rs730881102 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys) rs150008205 0.00001
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met) rs190805300 0.00001
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys) rs1205564576 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys) rs1262229619 0.00001
NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His) rs553943791 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu) rs1238638659 0.00001
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu) rs753773546 0.00001
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val) rs776549742 0.00001
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629 0.00001
NM_001277115.2(DNAH11):c.7135-18C>T rs886038472 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278293.3(ARL6):c.432T>A (p.Ser144=) rs1324293417 0.00001
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu) rs780583418 0.00001
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) rs370257828 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val) rs766924184 0.00001
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp) rs777662147 0.00001
NM_001282225.2(ADA2):c.753+7C>T rs762663812 0.00001
NM_001282225.2(ADA2):c.754-8C>T rs1427052554 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282531.3(ADNP):c.481G>A (p.Glu161Lys) rs1981147662 0.00001
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter) rs750328756 0.00001
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) rs145740877 0.00001
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) rs368596083 0.00001
NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg) rs570440031 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) rs781915800 0.00001
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_001291303.3(FAT4):c.14273C>T (p.Pro4758Leu) rs1405492776 0.00001
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile) rs564305264 0.00001
NM_001291415.2(KDM6A):c.1837G>A (p.Ala613Thr) rs751034422 0.00001
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) rs768874859 0.00001
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) rs780651730 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.34C>T (p.Leu12Phe) rs748637459 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_001303052.2(MYT1L):c.835A>G (p.Asn279Asp) rs1279364314 0.00001
NM_001304438.2(TMEM132E):c.809G>A (p.Arg270His) rs570477617 0.00001
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=) rs751950851 0.00001
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala) rs1217555878 0.00001
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val) rs980402710 0.00001
NM_001312673.2(PCYT1A):c.1103A>C (p.Ter368Ser) rs1724251301 0.00001
NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter) rs587777192 0.00001
NM_001312673.2(PCYT1A):c.88G>A (p.Val30Ile) rs749118491 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) rs770688785 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) rs764347791 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser) rs780909370 0.00001
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys) rs762913745 0.00001
NM_001330588.2(TPP2):c.1016+17A>G rs536710684 0.00001
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) rs1157793506 0.00001
NM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile) rs141438400 0.00001
NM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys) rs780262395 0.00001
NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly) rs987368907 0.00001
NM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu) rs780273443 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) rs756923654 0.00001
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys) rs768503905 0.00001
NM_001354768.3(NRL):c.223dup (p.Leu75fs) rs763191889 0.00001
NM_001354930.2(RIPK1):c.368T>C (p.Ile123Thr) rs116603010 0.00001
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) rs942463668 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr) rs750989470 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852 0.00001
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met) rs760428437 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter) rs756564881 0.00001
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter) rs774187452 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001360.3(DHCR7):c.964-10C>T rs753345689 0.00001
NM_001360.3(DHCR7):c.99-7C>T rs1177383343 0.00001
NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) rs558919433 0.00001
NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr) rs550037603 0.00001
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs) rs745526849 0.00001
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly) rs749012995 0.00001
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala) rs200935054 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys) rs374803743 0.00001
NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser) rs554539624 0.00001
NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=) rs200636760 0.00001
NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg) rs760097843 0.00001
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841 0.00001
NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) rs754599484 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) rs797046032 0.00001
NM_001365999.1(SZT2):c.9731C>T (p.Pro3244Leu) rs774448705 0.00001
NM_001366110.1(PAX4):c.179G>A (p.Arg60His) rs370095957 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.771+6C>T rs377152445 0.00001
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) rs753454152 0.00001
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) rs760273176 0.00001
NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser) rs771473441 0.00001
NM_001366722.1(GRIP1):c.872+7A>G rs886049798 0.00001
NM_001367561.1(DOCK7):c.3546A>G (p.Gln1182=) rs760052391 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=) rs188428209 0.00001
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys) rs752339132 0.00001
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser) rs368576880 0.00001
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=) rs764201218 0.00001
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp) rs756444637 0.00001
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369369.1(FOXN1):c.1855G>C (p.Ala619Pro) rs141857607 0.00001
NM_001370595.2(COA8):c.172C>A (p.Pro58Thr) rs774599759 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371727.1(GABRB2):c.744A>G (p.Gln248=) rs935553427 0.00001
NM_001371986.1(UNC80):c.1465C>T (p.Arg489Cys) rs773432779 0.00001
NM_001371986.1(UNC80):c.6381T>G (p.Ile2127Met) rs1209611309 0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790 0.00001
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr) rs1296293849 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala) rs140639463 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381 0.00001
NM_001376256.1(CRYM):c.10G>T (p.Val4Leu) rs766675674 0.00001
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr) rs1204094235 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) rs990365646 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378454.1(ALMS1):c.-20G>A rs935547269 0.00001
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly) rs776497929 0.00001
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu) rs1473998334 0.00001
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val) rs781411724 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys) rs893973875 0.00001
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=) rs375046790 0.00001
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln) rs563989825 0.00001
NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val) rs767343226 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978 0.00001
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser) rs762682178 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile) rs376255515 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg) rs1675626491 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509 0.00001
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu) rs553786370 0.00001
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp) rs1205653574 0.00001
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930 0.00001
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) rs199989044 0.00001
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=) rs769083768 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys) rs775032572 0.00001
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu) rs779259646 0.00001
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val) rs775981299 0.00001
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp) rs1260367236 0.00001
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly) rs777458464 0.00001
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys) rs1232628050 0.00001
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703 0.00001
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244 0.00001
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys) rs757131983 0.00001
NM_001378454.1(ALMS1):c.2155A>G (p.Arg719Gly) rs1446915143 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr) rs1337404560 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro) rs949198387 0.00001
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=) rs760421159 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg) rs1671873298 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val) rs200704524 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319 0.00001
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile) rs1240072348 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser) rs1267229357 0.00001
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu) rs1574424130 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=) rs1190737675 0.00001
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu) rs1180431442 0.00001
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe) rs1052797474 0.00001
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=) rs373926995 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr) rs756748918 0.00001
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=) rs768478218 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys) rs757838184 0.00001
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser) rs777259139 0.00001
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg) rs1332453858 0.00001
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp) rs1439442789 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=) rs546247768 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala) rs1671922685 0.00001
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val) rs776345925 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser) rs1233912426 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg) rs773841585 0.00001
NM_001378454.1(ALMS1):c.485T>C (p.Met162Thr) rs371903967 0.00001
NM_001378454.1(ALMS1):c.4943C>G (p.Pro1648Arg) rs372540975 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=) rs751254168 0.00001
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu) rs756796770 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly) rs760638961 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054 0.00001
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro) rs1188079304 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly) rs1257660889 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala) rs375830111 0.00001
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile) rs762339692 0.00001
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro) rs760035952 0.00001
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr) rs1288519568 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.6059C>T (p.Ser2020Leu) rs372116790 0.00001
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg) rs780566681 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr) rs749979595 0.00001
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=) rs1383333428 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782 0.00001
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu) rs1671984408 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545 0.00001
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser) rs377085127 0.00001
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr) rs373385088 0.00001
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His) rs752127434 0.00001
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly) rs769890820 0.00001
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu) rs754078506 0.00001
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) rs1672944551 0.00001
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro) rs1245467740 0.00001
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=) rs766179893 0.00001
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly) rs1255060538 0.00001
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln) rs185447739 0.00001
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=) rs377249623 0.00001
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=) rs1258151977 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val) rs754181473 0.00001
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser) rs752792682 0.00001
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro) rs866416012 0.00001
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689 0.00001
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His) rs1022898016 0.00001
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu) rs1394971174 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala) rs45493191 0.00001
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu) rs372886271 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448 0.00001
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys) rs763730338 0.00001
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu) rs770987613 0.00001
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val) rs575305602 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9907+17A>C rs772675597 0.00001
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) rs372873919 0.00001
NM_001378964.1(CDON):c.620G>A (p.Gly207Asp) rs756395737 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) rs766584545 0.00001
NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr) rs755724341 0.00001
NM_001379081.2(FREM1):c.292A>G (p.Ile98Val) rs371148891 0.00001
NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala) rs761348644 0.00001
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=) rs745782166 0.00001
NM_001379081.2(FREM1):c.382C>G (p.Leu128Val) rs886043843 0.00001
NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg) rs536683402 0.00001
NM_001379081.2(FREM1):c.5072A>G (p.His1691Arg) rs755062740 0.00001
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389 0.00001
NM_001379081.2(FREM1):c.544C>G (p.Leu182Val) rs1230078063 0.00001
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) rs373539086 0.00001
NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg) rs756433866 0.00001
NM_001379286.1(ZNF423):c.1162C>T (p.Arg388Cys) rs985841675 0.00001
NM_001379286.1(ZNF423):c.3364G>A (p.Asp1122Asn) rs771960577 0.00001
NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val) rs1395632086 0.00001
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) rs1818326433 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu) rs1242032695 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu) rs1008856721 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met) rs555210209 0.00001
NM_001384479.1(AGT):c.1060C>T rs778806374 0.00001
NM_001384479.1(AGT):c.76C>T (p.Arg26Trp) rs761670478 0.00001
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1121+7C>T rs776591358 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) rs1342297170 0.00001
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) rs756811653 0.00001
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096 0.00001
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) rs1561663335 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.2501-7T>C rs1315683149 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) rs918958290 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) rs943993886 0.00001
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) rs776423792 0.00001
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) rs1789225309 0.00001
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) rs747382965 0.00001
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) rs1404949478 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) rs753392667 0.00001
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=) rs571145214 0.00001
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr) rs1363054900 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr) rs1160277331 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5327G>A (p.Arg1776His) rs757385488 0.00001
NM_001384732.1(CPLANE1):c.5737+15A>G rs1352836895 0.00001
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) rs1042774343 0.00001
NM_001384732.1(CPLANE1):c.5978+4A>G rs748763785 0.00001
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) rs938358328 0.00001
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) rs773299420 0.00001
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys) rs755471609 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.6463-17T>C rs753835579 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) rs572837877 0.00001
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly) rs749403465 0.00001
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) rs752372376 0.00001
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu) rs777757781 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.7401-14A>G rs1052354484 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn) rs535480596 0.00001
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) rs771793682 0.00001
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) rs771614298 0.00001
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) rs774074728 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8461+19G>A rs772961080 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) rs767189816 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) rs372215544 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln) rs764268350 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_001395656.1(ROBO2):c.1666G>A (p.Ala556Thr) rs1458146298 0.00001
NM_001395656.1(ROBO2):c.2578G>C (p.Val860Leu) rs201250546 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001440.4(EXTL3):c.2207A>G (p.Glu736Gly) rs776131097 0.00001
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 0.00001
NM_001453.3(FOXC1):c.363C>T (p.Gly121=) rs752309038 0.00001
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser) rs1331057949 0.00001
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) rs779765790 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001458.5(FLNC):c.1054G>A (p.Val352Met) rs773023988 0.00001
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val) rs1808207788 0.00001
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu) rs780098760 0.00001
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser) rs1227192105 0.00001
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) rs1446694237 0.00001
NM_001458.5(FLNC):c.2307G>A (p.Val769=) rs906089015 0.00001
NM_001458.5(FLNC):c.2376C>T (p.Ser792=) rs754097557 0.00001
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser) rs371398126 0.00001
NM_001458.5(FLNC):c.2424C>T (p.Gly808=) rs764991202 0.00001
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu) rs752448040 0.00001
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu) rs771575526 0.00001
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val) rs1064796931 0.00001
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys) rs71581926 0.00001
NM_001458.5(FLNC):c.470G>A (p.Arg157His) rs752919962 0.00001
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met) rs753742681 0.00001
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=) rs200405579 0.00001
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) rs748879903 0.00001
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser) rs1380018208 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser) rs763930207 0.00001
NM_001458.5(FLNC):c.5842+12G>A rs745604311 0.00001
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr) rs766127245 0.00001
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln) rs1346364708 0.00001
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys) rs747336635 0.00001
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His) rs1034483511 0.00001
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln) rs370293647 0.00001
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=) rs761006044 0.00001
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp) rs199519281 0.00001
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser) rs755387909 0.00001
NM_001458.5(FLNC):c.905C>T (p.Thr302Met) rs776362922 0.00001
NM_001481.3(GAS8):c.730A>G (p.Asn244Asp) rs745989300 0.00001
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.1257G>A (p.Gln419=) rs774881489 0.00001
NM_001482.3(GATM):c.138C>T (p.Ser46=) rs1012951622 0.00001
NM_001482.3(GATM):c.294C>T (p.Asn98=) rs1271594468 0.00001
NM_001482.3(GATM):c.48G>T (p.Ala16=) rs587780951 0.00001
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) rs397514708 0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=) rs758473036 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001482.3(GATM):c.9G>A (p.Arg3=) rs1471775361 0.00001
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro) rs868026629 0.00001
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_001572.5(IRF7):c.1079A>T (p.Glu360Val) rs376570562 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001673.5(ASNS):c.277C>T (p.Gln93Ter) rs757729851 0.00001
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His) rs782166295 0.00001
NM_001692.4(ATP6V1B1):c.1180C>A (p.Arg394=) rs370694539 0.00001
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=) rs782782168 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=) rs1471681639 0.00001
NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr) rs782807034 0.00001
NM_001692.4(ATP6V1B1):c.605G>A (p.Arg202His) rs782603735 0.00001
NM_001692.4(ATP6V1B1):c.808C>T (p.Arg270Cys) rs555708728 0.00001
NM_001711.6(BGN):c.954C>T (p.Asn318=) rs1357283426 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_001735.3(C5):c.1001-6C>T rs577620735 0.00001
NM_001735.3(C5):c.1358G>A (p.Arg453Gln) rs768081493 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.1704C>T (p.Gly568=) rs758651657 0.00001
NM_001735.3(C5):c.1866+12C>A rs113503759 0.00001
NM_001735.3(C5):c.2037G>A (p.Leu679=) rs2047296479 0.00001
NM_001735.3(C5):c.2059+10G>A rs371850097 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001735.3(C5):c.2543A>G (p.Tyr848Cys) rs1288535384 0.00001
NM_001735.3(C5):c.2942-16A>T rs1026823552 0.00001
NM_001735.3(C5):c.4081-6A>G rs563554052 0.00001
NM_001735.3(C5):c.4247C>T (p.Ser1416Leu) rs148636828 0.00001
NM_001735.3(C5):c.4489G>A (p.Glu1497Lys) rs376245744 0.00001
NM_001735.3(C5):c.572C>T (p.Pro191Leu) rs200524363 0.00001
NM_001735.3(C5):c.691A>G (p.Ile231Val) rs753870842 0.00001
NM_001735.3(C5):c.698C>T (p.Pro233Leu) rs531284110 0.00001
NM_001735.3(C5):c.792C>T (p.Asp264=) rs751759129 0.00001
NM_001735.3(C5):c.975T>A (p.Ile325=) rs370834994 0.00001
NM_001753.5(CAV1):c.302G>A (p.Arg101His) rs200052661 0.00001
NM_001753.5(CAV1):c.394C>G (p.Pro132Ala) rs748608068 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001791.4(CDC42):c.510C>T (p.Asp170=) rs200782611 0.00001
NM_001791.4(CDC42):c.529C>T (p.Leu177=) rs759623419 0.00001
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) rs112133581 0.00001
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) rs773525226 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) rs781554389 0.00001
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) rs371440147 0.00001
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) rs1431778644 0.00001
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) rs570320774 0.00001
NM_001844.5(COL2A1):c.3111+5G>A rs1429492734 0.00001
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) rs748658390 0.00001
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=) rs1878700909 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 0.00001
NM_001845.6(COL4A1):c.234+7A>G rs1339538900 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=) rs182418518 0.00001
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His) rs146598127 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4249+9C>T rs186028417 0.00001
NM_001845.6(COL4A1):c.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4462+8G>A rs752734207 0.00001
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=) rs773639086 0.00001
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=) rs552846696 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.808-13T>G rs529629733 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser) rs753412782 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala) rs1202213496 0.00001
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_001863.5(COX6B1):c.157G>A (p.Val53Met) rs201223537 0.00001
NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile) rs377025450 0.00001
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr) rs754433289 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=) rs774434356 0.00001
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr) rs775746905 0.00001
NM_001903.5(CTNNA1):c.1619G>A (p.Arg540His) rs139655691 0.00001
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=) rs143248909 0.00001
NM_001903.5(CTNNA1):c.347G>A (p.Cys116Tyr) rs761084210 0.00001
NM_001909.5(CTSD):c.716C>T (p.Ala239Val) rs759564989 0.00001
NM_001918.5(DBT):c.673A>C (p.Ile225Leu) rs1472099889 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.817G>A (p.Ala273Thr) rs770258461 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1652-8C>T rs770497608 0.00001
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser) rs756896076 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu) rs769649528 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 0.00001
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile) rs375955157 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2742T>C (p.Ser914=) rs529198523 0.00001
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn) rs919875624 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys) rs566251077 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001972.4(ELANE):c.662G>T (p.Gly221Val) rs756112245 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_002055.5(GFAP):c.362G>A (p.Arg121Gln) rs769619261 0.00001
NM_002055.5(GFAP):c.697G>A (p.Ala233Thr) rs1220287768 0.00001
NM_002067.5(GNA11):c.138C>T (p.Gly46=) rs776843648 0.00001
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.606-6T>C rs371052478 0.00001
NM_002067.5(GNA11):c.805G>A (p.Val269Ile) rs144829732 0.00001
NM_002067.5(GNA11):c.987G>A (p.Thr329=) rs375856122 0.00001
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) rs200645022 0.00001
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) rs752428000 0.00001
NM_002087.4(GRN):c.22G>A (p.Val8Met) rs774367010 0.00001
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) rs542613543 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989 0.00001
NM_002204.4(ITGA3):c.1994G>A (p.Arg665His) rs1908944600 0.00001
NM_002204.4(ITGA3):c.2400+7G>A rs371199306 0.00001
NM_002206.3(ITGA7):c.307T>A (p.Cys103Ser) rs779677072 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_002234.4(KCNA5):c.*244C>T rs992233743 0.00001
NM_002234.4(KCNA5):c.1138C>G (p.Gln380Glu) rs1448543777 0.00001
NM_002234.4(KCNA5):c.1190C>T (p.Ala397Val) rs748288439 0.00001
NM_002234.4(KCNA5):c.1286C>T (p.Ala429Val) rs745704941 0.00001
NM_002234.4(KCNA5):c.160C>T (p.Arg54Cys) rs1357336410 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002234.4(KCNA5):c.214G>C (p.Asp72His) rs758310507 0.00001
NM_002234.4(KCNA5):c.460C>A (p.Arg154Ser) rs756977657 0.00001
NM_002234.4(KCNA5):c.754A>G (p.Ile252Val) rs1555100234 0.00001
NM_002234.4(KCNA5):c.886C>T (p.Pro296Ser) rs1172777549 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys) rs1648596230 0.00001
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232 0.00001
NM_002241.5(KCNJ10):c.250G>A (p.Val84Met) rs140646329 0.00001
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695 0.00001
NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) rs36040296 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) rs769464065 0.00001
NM_002246.3(KCNK3):c.746T>C (p.Met249Thr) rs1015646363 0.00001
NM_002246.3(KCNK3):c.759C>T (p.Asp253=) rs758405997 0.00001
NM_002246.3(KCNK3):c.834C>A (p.Ser278Arg) rs750738078 0.00001
NM_002246.3(KCNK3):c.991C>T (p.Arg331Trp) rs776738377 0.00001
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=) rs765736533 0.00001
NM_002292.4(LAMB2):c.1329T>C (p.His443=) rs1131787 0.00001
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703 0.00001
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His) rs1428596182 0.00001
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=) rs922993666 0.00001
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val) rs758825199 0.00001
NM_002292.4(LAMB2):c.1518+4C>T rs902115828 0.00001
NM_002292.4(LAMB2):c.1519-5T>C rs1242908578 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln) rs763825655 0.00001
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp) rs777022967 0.00001
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln) rs764642268 0.00001
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224 0.00001
NM_002292.4(LAMB2):c.252C>T (p.Asp84=) rs750432118 0.00001
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) rs190191113 0.00001
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp) rs146232955 0.00001
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) rs769328932 0.00001
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln) rs777538430 0.00001
NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr) rs879255374 0.00001
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys) rs201159870 0.00001
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011 0.00001
NM_002292.4(LAMB2):c.3798-17C>G rs777266280 0.00001
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His) rs149144377 0.00001
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile) rs1013824488 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val) rs371490301 0.00001
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser) rs1051360734 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) rs1294654447 0.00001
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln) rs924410863 0.00001
NM_002292.4(LAMB2):c.713-3C>T rs775876911 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261 0.00001
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr) rs201093644 0.00001
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001
NM_002317.7(LOX):c.986C>A (p.Ser329Tyr) rs755859651 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00001
NM_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe) rs375220795 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002335.4(LRP5):c.1016-10G>A rs1271777311 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) rs199707305 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) rs1022762292 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2625C>T (p.Ser875=) rs999634205 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2688C>T (p.His896=) rs1395883769 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.2828-15C>T rs951283192 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=) rs141306017 0.00001
NM_002335.4(LRP5):c.4000+15G>A rs563578294 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=) rs759659671 0.00001
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=) rs780535389 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=) rs139701701 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) rs778641299 0.00001
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) rs1376244060 0.00001
NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr) rs147353945 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met) rs781158335 0.00001
NM_002435.3(MPI):c.902A>G (p.Lys301Arg) rs534508637 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NM_002439.5(MSH3):c.1453+5A>C rs1743273324 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr) rs774807696 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val) rs1017557276 0.00001
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr) rs1488705293 0.00001
NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn) rs1252826013 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln) rs763585076 0.00001
NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser) rs927752391 0.00001
NM_002471.4(MYH6):c.2051-1G>A rs773772551 0.00001
NM_002471.4(MYH6):c.2169-8C>T rs1006825673 0.00001
NM_002471.4(MYH6):c.2292+1G>A rs771569935 0.00001
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala) rs779528748 0.00001
NM_002471.4(MYH6):c.2664C>T (p.Asp888=) rs755699724 0.00001
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val) rs1372933415 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=) rs745729273 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) rs1595055372 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His) rs747891865 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr) rs762102758 0.00001
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp) rs1372245953 0.00001
NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu) rs767570086 0.00001
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile) rs397516769 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr) rs1005724382 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.4394C>T (p.Ser1465Leu) rs766327056 0.00001
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu) rs773067289 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002471.4(MYH6):c.4504C>A (p.Arg1502=) rs773631723 0.00001
NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn) rs730880151 0.00001
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His) rs747494958 0.00001
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser) rs776765616 0.00001
NM_002471.4(MYH6):c.493A>T (p.Met165Leu) rs972242173 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys) rs745747137 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr) rs760667847 0.00001
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln) rs371222772 0.00001
NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp) rs760865481 0.00001
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln) rs767679378 0.00001
NM_002471.4(MYH6):c.5797-2A>G rs751748384 0.00001
NM_002471.4(MYH6):c.68G>A (p.Arg23His) rs771786844 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002471.4(MYH6):c.779C>T (p.Ala260Val) rs1470827277 0.00001
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) rs768721880 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) rs1359996610 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) rs375081687 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) rs750410479 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly) rs1174407076 0.00001
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu) rs775927183 0.00001
NM_002474.3(MYH11):c.1993A>G (p.Met665Val) rs2041529040 0.00001
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln) rs376758800 0.00001
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp) rs1275950124 0.00001
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_002474.3(MYH11):c.2789G>A (p.Arg930His) rs1025259076 0.00001
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val) rs145121051 0.00001
NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys) rs1357435865 0.00001
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr) rs193922629 0.00001
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg) rs558332944 0.00001
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp) rs771515309 0.00001
NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile) rs1399080640 0.00001
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile) rs763285173 0.00001
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys) rs780157741 0.00001
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.412A>T (p.Ile138Phe) rs886039133 0.00001
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn) rs1085307699 0.00001
NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser) rs151112745 0.00001
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) rs758663266 0.00001
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) rs200909802 0.00001
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) rs761965886 0.00001
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) rs148433586 0.00001
NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys) rs764794087 0.00001
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) rs761727438 0.00001
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) rs1041344233 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys) rs769802444 0.00001
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His) rs375148396 0.00001
NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter) rs772670393 0.00001
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=) rs199752132 0.00001
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser) rs1242871546 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.135T>A (p.His45Gln) rs770618624 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala) rs767219230 0.00001
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe) rs766645933 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) rs1285624591 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002529.4(NTRK1):c.988A>G (p.Thr330Ala) rs779155543 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002661.5(PLCG2):c.1176C>T (p.His392=) rs773286721 0.00001
NM_002661.5(PLCG2):c.1212C>T (p.Ser404=) rs1405057614 0.00001
NM_002661.5(PLCG2):c.1236G>A (p.Glu412=) rs372240617 0.00001
NM_002661.5(PLCG2):c.1301C>T (p.Thr434Met) rs757785924 0.00001
NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr) rs1225918799 0.00001
NM_002661.5(PLCG2):c.1362+8C>A rs372538067 0.00001
NM_002661.5(PLCG2):c.1467+3G>A rs759974672 0.00001
NM_002661.5(PLCG2):c.1567C>G (p.Pro523Ala) rs574435526 0.00001
NM_002661.5(PLCG2):c.1634A>G (p.Lys545Arg) rs1555519355 0.00001
NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln) rs200325678 0.00001
NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg) rs758138167 0.00001
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys) rs763166039 0.00001
NM_002661.5(PLCG2):c.1934+8T>G rs780081424 0.00001
NM_002661.5(PLCG2):c.2032G>A (p.Asp678Asn) rs541071022 0.00001
NM_002661.5(PLCG2):c.2067G>A (p.Lys689=) rs1369861469 0.00001
NM_002661.5(PLCG2):c.2102A>G (p.His701Arg) rs777219718 0.00001
NM_002661.5(PLCG2):c.2224C>T (p.Arg742Cys) rs776768909 0.00001
NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile) rs758623675 0.00001
NM_002661.5(PLCG2):c.2296A>C (p.Asn766His) rs955126333 0.00001
NM_002661.5(PLCG2):c.2399C>G (p.Ser800Cys) rs769337881 0.00001
NM_002661.5(PLCG2):c.2581+5G>A rs769466948 0.00001
NM_002661.5(PLCG2):c.2739+19G>A rs776050949 0.00001
NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser) rs771302628 0.00001
NM_002661.5(PLCG2):c.2867G>A (p.Arg956His) rs376030995 0.00001
NM_002661.5(PLCG2):c.2912C>T (p.Pro971Leu) rs770381413 0.00001
NM_002661.5(PLCG2):c.3002G>A (p.Arg1001His) rs752209691 0.00001
NM_002661.5(PLCG2):c.3034C>T (p.Leu1012Phe) rs1597143704 0.00001
NM_002661.5(PLCG2):c.304A>G (p.Thr102Ala) rs991965495 0.00001
NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys) rs376667295 0.00001
NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His) rs760293225 0.00001
NM_002661.5(PLCG2):c.3109G>A (p.Val1037Ile) rs373561919 0.00001
NM_002661.5(PLCG2):c.3388G>T (p.Ala1130Ser) rs1003946385 0.00001
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile) rs372557475 0.00001
NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn) rs1447212251 0.00001
NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter) rs1406944158 0.00001
NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys) rs1911592073 0.00001
NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe) rs772451566 0.00001
NM_002661.5(PLCG2):c.591C>T (p.Leu197=) rs1440994305 0.00001
NM_002661.5(PLCG2):c.628A>C (p.Met210Leu) rs1367179036 0.00001
NM_002661.5(PLCG2):c.679G>A (p.Val227Met) rs769793664 0.00001
NM_002661.5(PLCG2):c.692+7C>T rs773842088 0.00001
NM_002661.5(PLCG2):c.784C>G (p.Leu262Val) rs372563994 0.00001
NM_002661.5(PLCG2):c.839C>G (p.Thr280Ser) rs757316414 0.00001
NM_002661.5(PLCG2):c.843T>C (p.Ala281=) rs755732530 0.00001
NM_002661.5(PLCG2):c.875C>T (p.Thr292Met) rs772003833 0.00001
NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr) rs1382212475 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys) rs528292347 0.00001
NM_002691.4(POLD1):c.1681C>A (p.Arg561=) rs368738479 0.00001
NM_002691.4(POLD1):c.1717G>T (p.Val573Leu) rs760616076 0.00001
NM_002691.4(POLD1):c.1811C>A (p.Ser604Tyr) rs1060501807 0.00001
NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) rs768773535 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2142G>A (p.Leu714=) rs1060501816 0.00001
NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu) rs1057521209 0.00001
NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp) rs780926432 0.00001
NM_002691.4(POLD1):c.590-2A>G rs758877520 0.00001
NM_002691.4(POLD1):c.820G>A (p.Ala274Thr) rs878854557 0.00001
NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) rs878854558 0.00001
NM_002691.4(POLD1):c.933C>T (p.Arg311=) rs749278926 0.00001
NM_002691.4(POLD1):c.965G>A (p.Arg322His) rs980303681 0.00001
NM_002693.3(POLG):c.1023+17G>A rs778750911 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.30C>T (p.Ala10=) rs1060504037 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His) rs760033566 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002769.5(PRSS1):c.277A>T (p.Ile93Phe) rs1484477439 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys) rs139642328 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002900.3(RBP3):c.722A>T (p.Asp241Val) rs782211857 0.00001
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) rs769035379 0.00001
NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser) rs767232639 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) rs1238657472 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser) rs548786259 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu) rs557791923 0.00001
NM_003036.4(SKI):c.464C>G (p.Ala155Gly) rs559020511 0.00001
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719 0.00001
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00001
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe) rs754913053 0.00001
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His) rs778137386 0.00001
NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro) rs757711838 0.00001
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser) rs955061461 0.00001
NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys) rs1321705165 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr) rs749602236 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu) rs756650860 0.00001
NM_003060.4(SLC22A5):c.71del (p.Leu24fs) rs775502377 0.00001
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter) rs931801909 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met) rs532242119 0.00001
NM_003072.5(SMARCA4):c.1813-15A>G rs751661108 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu) rs2087817276 0.00001
NM_003072.5(SMARCA4):c.2438+4A>C rs771818596 0.00001
NM_003072.5(SMARCA4):c.2505+14A>G rs779882147 0.00001
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu) rs763471007 0.00001
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=) rs1060504446 0.00001
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile) rs1555788108 0.00001
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu) rs1060502073 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu) rs756255060 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser) rs767947665 0.00001
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile) rs758091260 0.00001
NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr) rs754242619 0.00001
NM_003098.3(SNTA1):c.1425+1G>A rs113809208 0.00001
NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) rs144006909 0.00001
NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro) rs1463586615 0.00001
NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp) rs552509775 0.00001
NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) rs756587722 0.00001
NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala) rs768194552 0.00001
NM_003098.3(SNTA1):c.459G>T (p.Gln153His) rs1471172997 0.00001
NM_003098.3(SNTA1):c.497-5A>G rs202178576 0.00001
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) rs781703999 0.00001
NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu) rs35168199 0.00001
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) rs759487225 0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003200.5(TCF3):c.1327-3C>A rs369551101 0.00001
NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) rs143185818 0.00001
NM_003227.4(TFR2):c.134C>T (p.Ala45Val) rs769555821 0.00001
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003238.6(TGFB2):c.*1871C>T rs1009327040 0.00001
NM_003238.6(TGFB2):c.*782del rs886045983 0.00001
NM_003238.6(TGFB2):c.*962A>G rs886045984 0.00001
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met) rs376159002 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn) rs775251473 0.00001
NM_003238.6(TGFB2):c.548G>A (p.Arg183His) rs773177511 0.00001
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser) rs769911912 0.00001
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile) rs373352179 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu) rs139078984 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003280.3(TNNC1):c.*75G>A rs886058706 0.00001
NM_003280.3(TNNC1):c.202+5G>C rs759472560 0.00001
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser) rs772752716 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) rs370103102 0.00001
NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) rs200296115 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003355.3(UCP2):c.799C>T (p.Arg267Ter) rs748009040 0.00001
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter) rs373412017 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003392.7(WNT5A):c.115G>C (p.Val39Leu) rs1369701937 0.00001
NM_003392.7(WNT5A):c.291G>A (p.Ala97=) rs762941459 0.00001
NM_003392.7(WNT5A):c.554A>G (p.Asn185Ser) rs771010789 0.00001
NM_003401.5(XRCC4):c.458G>A (p.Arg153Lys) rs1277864722 0.00001
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter) rs991596636 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) rs767360228 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met) rs777327517 0.00001
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) rs372717179 0.00001
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) rs758947977 0.00001
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) rs556425857 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) rs1238014538 0.00001
NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn) rs202167830 0.00001
NM_003482.4(KMT2D):c.14984C>G (p.Thr4995Ser) rs886042207 0.00001
NM_003482.4(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208 0.00001
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) rs374216845 0.00001
NM_003482.4(KMT2D):c.8506C>T (p.Arg2836Cys) rs1346754879 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser) rs563222818 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_003597.5(KLF11):c.-31G>A rs886054721 0.00001
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu) rs775364750 0.00001
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) rs868399686 0.00001
NM_003597.5(KLF11):c.259A>G (p.Met87Val) rs757905542 0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe) rs774888576 0.00001
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp) rs1235702491 0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg) rs1158126675 0.00001
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684 0.00001
NM_003611.3(OFD1):c.935+4A>G rs1243725011 0.00001
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly) rs764424025 0.00001
NM_003640.5(ELP1):c.1190-4G>A rs774965847 0.00001
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) rs371100951 0.00001
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr) rs773228197 0.00001
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.1909-17C>G rs373498962 0.00001
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) rs762636526 0.00001
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) rs370772658 0.00001
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) rs374558203 0.00001
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) rs1034776233 0.00001
NM_003640.5(ELP1):c.2295A>T (p.Gly765=) rs137874743 0.00001
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264 0.00001
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) rs181121832 0.00001
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) rs770590151 0.00001
NM_003640.5(ELP1):c.2547A>G (p.Pro849=) rs764837607 0.00001
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 0.00001
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612 0.00001
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.2847C>T (p.His949=) rs529456133 0.00001
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) rs1435854424 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr) rs770540843 0.00001
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) rs112178985 0.00001
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg) rs201781695 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) rs201242444 0.00001
NM_003640.5(ELP1):c.3855+18C>T rs557015443 0.00001
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) rs200524123 0.00001
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp) rs773117166 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) rs2057250642 0.00001
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys) rs1042724474 0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) rs786205287 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln) rs1085307822 0.00001
NM_003680.4(YARS1):c.322A>G (p.Ile108Val) rs1467446637 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) rs142762485 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 0.00001
NM_003722.5(TP63):c.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.62G>A (p.Arg21His) rs766583971 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs371091982 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala) rs746859503 0.00001
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile) rs199828375 0.00001
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) rs756807746 0.00001
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) rs775468466 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val) rs756936473 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln) rs746907619 0.00001
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg) rs773635994 0.00001
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro) rs755890052 0.00001
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr) rs775943127 0.00001
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=) rs375485114 0.00001
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=) rs747530058 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg) rs755142027 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp) rs770516401 0.00001
NM_004006.3(DMD):c.10712G>A (p.Arg3571His) rs935091512 0.00001
NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro) rs990606875 0.00001
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile) rs773299186 0.00001
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu) rs863224981 0.00001
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) rs778354538 0.00001
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys) rs775846754 0.00001
NM_004006.3(DMD):c.2017C>G (p.Gln673Glu) rs128626232 0.00001
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn) rs367769606 0.00001
NM_004006.3(DMD):c.2079G>T (p.Gln693His) rs761441684 0.00001
NM_004006.3(DMD):c.2312C>T (p.Ala771Val) rs1245604423 0.00001
NM_004006.3(DMD):c.2381-7T>G rs1201559737 0.00001
NM_004006.3(DMD):c.2551A>C (p.Asn851His) rs753665097 0.00001
NM_004006.3(DMD):c.2764T>G (p.Phe922Val) rs185395584 0.00001
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu) rs745640786 0.00001
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) rs1462655612 0.00001
NM_004006.3(DMD):c.5146G>A (p.Val1716Met) rs748814615 0.00001
NM_004006.3(DMD):c.5156G>A (p.Arg1719His) rs1273883368 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 0.00001
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly) rs985546923 0.00001
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr) rs767681834 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
NM_004006.3(DMD):c.7490G>T (p.Arg2497Met) rs1312256471 0.00001
NM_004006.3(DMD):c.74T>C (p.Val25Ala) rs886039061 0.00001
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile) rs747127624 0.00001
NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro) rs748485762 0.00001
NM_004006.3(DMD):c.836C>T (p.Thr279Met) rs369135184 0.00001
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp) rs1188233243 0.00001
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln) rs750579766 0.00001
NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) rs762956777 0.00001
NM_004048.4(B2M):c.67+12C>T rs771780544 0.00001
NM_004064.5(CDKN1B):c.272C>T (p.Pro91Leu) rs768793049 0.00001
NM_004064.5(CDKN1B):c.278G>A (p.Arg93Gln) rs769996423 0.00001
NM_004064.5(CDKN1B):c.476-10C>T rs200108977 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004113.6(FGF12):c.125-3C>G rs371917110 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) rs766779919 0.00001
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362 0.00001
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) rs770506764 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp) rs757663708 0.00001
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) rs1339009840 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) rs878854630 0.00001
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) rs1060503717 0.00001
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) rs1485747007 0.00001
NM_004168.4(SDHA):c.340A>G (p.Met114Val) rs933414586 0.00001
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) rs569384870 0.00001
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) rs762956849 0.00001
NM_004168.4(SDHA):c.585G>C (p.Arg195=) rs766339992 0.00001
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635 0.00001
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464 0.00001
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) rs182055219 0.00001
NM_004168.4(SDHA):c.919A>G (p.Ile307Val) rs200632016 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004168.4(SDHA):c.954C>T (p.Leu318=) rs1412623947 0.00001
NM_004181.5(UCHL1):c.175-4G>A rs778240876 0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) rs534500568 0.00001
NM_004252.5(NHERF1):c.913A>G (p.Lys305Glu) rs938666218 0.00001
NM_004252.5(NHERF1):c.940A>G (p.Thr314Ala) rs1567826349 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) rs786205347 0.00001
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly) rs775153939 0.00001
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln) rs150156178 0.00001
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly) rs369690617 0.00001
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys) rs566015884 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln) rs769913236 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.557C>T (p.Ala186Val) rs766766600 0.00001
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys) rs752722473 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.692C>T (p.Thr231Met) rs747454279 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.909+4C>T rs376351857 0.00001
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser) rs762376423 0.00001
NM_004304.5(ALK):c.1726G>T (p.Glu576Ter) rs750740789 0.00001
NM_004304.5(ALK):c.4241G>A (p.Arg1414Lys) rs77762612 0.00001
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022 0.00001
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys) rs1053423400 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala) rs587781766 0.00001
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His) rs1303886490 0.00001
NM_004366.6(CLCN2):c.221-4C>A rs748018356 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004366.6(CLCN2):c.481+18G>A rs759220889 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004366.6(CLCN2):c.672C>T (p.Ser224=) rs755629585 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.363G>A (p.Val121=) rs559388395 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.74-19T>C rs564822630 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val) rs747187975 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) rs1272691121 0.00001
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala) rs2052174869 0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) rs1186493453 0.00001
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly) rs398124149 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_004407.4(DMP1):c.1408G>A (p.Glu470Lys) rs369921592 0.00001
NM_004407.4(DMP1):c.1490A>T (p.His497Leu) rs376245118 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004447.6(EPS8):c.449C>T (p.Ala150Val) rs769820275 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) rs779573886 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys) rs753037667 0.00001
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys) rs757269723 0.00001
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro) rs1238291553 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_004484.4(GPC3):c.1292+6C>T rs1207247416 0.00001
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544 0.00001
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) rs201310379 0.00001
NM_004484.4(GPC3):c.450A>G (p.Thr150=) rs1569426383 0.00001
NM_004484.4(GPC3):c.696T>C (p.Ala232=) rs2071695506 0.00001
NM_004484.4(GPC3):c.865G>A (p.Val289Met) rs1456458902 0.00001
NM_004484.4(GPC3):c.918T>C (p.Leu306=) rs753655328 0.00001
NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr) rs1280461599 0.00001
NM_004523.4(KIF11):c.2089T>G (p.Leu697Val) rs781259791 0.00001
NM_004525.3(LRP2):c.10226A>G (p.His3409Arg) rs763431942 0.00001
NM_004525.3(LRP2):c.10234G>A (p.Ala3412Thr) rs147922851 0.00001
NM_004525.3(LRP2):c.1042+20G>A rs533964308 0.00001
NM_004525.3(LRP2):c.10703C>T (p.Pro3568Leu) rs753477259 0.00001
NM_004525.3(LRP2):c.10768G>A (p.Glu3590Lys) rs1412113808 0.00001
NM_004525.3(LRP2):c.10814G>A (p.Arg3605His) rs780595186 0.00001
NM_004525.3(LRP2):c.10894A>G (p.Ser3632Gly) rs17848188 0.00001
NM_004525.3(LRP2):c.11015T>C (p.Met3672Thr) rs760404717 0.00001
NM_004525.3(LRP2):c.11150G>C (p.Arg3717Thr) rs1165934355 0.00001
NM_004525.3(LRP2):c.11287G>A (p.Glu3763Lys) rs775918663 0.00001
NM_004525.3(LRP2):c.11451C>T (p.Cys3817=) rs745376364 0.00001
NM_004525.3(LRP2):c.11554C>G (p.His3852Asp) rs747599660 0.00001
NM_004525.3(LRP2):c.1204C>T (p.Arg402Trp) rs780687414 0.00001
NM_004525.3(LRP2):c.12330T>A (p.Ser4110=) rs751512062 0.00001
NM_004525.3(LRP2):c.1240T>C (p.Phe414Leu) rs750836745 0.00001
NM_004525.3(LRP2):c.12453G>C (p.Trp4151Cys) rs886055079 0.00001
NM_004525.3(LRP2):c.1268G>A (p.Arg423His) rs1386254805 0.00001
NM_004525.3(LRP2):c.13181C>T (p.Thr4394Ile) rs1482750340 0.00001
NM_004525.3(LRP2):c.13238C>T (p.Ala4413Val) rs144456548 0.00001
NM_004525.3(LRP2):c.13363T>C (p.Leu4455=) rs748926618 0.00001
NM_004525.3(LRP2):c.13366C>T (p.Pro4456Ser) rs772901117 0.00001
NM_004525.3(LRP2):c.13410C>T (p.Pro4470=) rs1419052115 0.00001
NM_004525.3(LRP2):c.13936G>A (p.Ala4646Thr) rs202210831 0.00001
NM_004525.3(LRP2):c.1496G>A (p.Ser499Asn) rs750613446 0.00001
NM_004525.3(LRP2):c.1549G>A (p.Val517Met) rs770524674 0.00001
NM_004525.3(LRP2):c.1607C>G (p.Pro536Arg) rs754796717 0.00001
NM_004525.3(LRP2):c.1642C>T (p.Arg548Cys) rs201490492 0.00001
NM_004525.3(LRP2):c.1653G>T (p.Leu551Phe) rs1416270515 0.00001
NM_004525.3(LRP2):c.1827A>G (p.Leu609=) rs186137585 0.00001
NM_004525.3(LRP2):c.1937A>G (p.Tyr646Cys) rs566216372 0.00001
NM_004525.3(LRP2):c.2489C>T (p.Ser830Leu) rs767925581 0.00001
NM_004525.3(LRP2):c.2539C>T (p.Arg847Cys) rs773623041 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004525.3(LRP2):c.2688C>G (p.His896Gln) rs1306828984 0.00001
NM_004525.3(LRP2):c.2907T>G (p.Thr969=) rs775082388 0.00001
NM_004525.3(LRP2):c.2944G>A (p.Gly982Ser) rs116482338 0.00001
NM_004525.3(LRP2):c.3039C>T (p.Cys1013=) rs200245838 0.00001
NM_004525.3(LRP2):c.3212C>T (p.Ala1071Val) rs756882589 0.00001
NM_004525.3(LRP2):c.3430+10G>A rs375941769 0.00001
NM_004525.3(LRP2):c.3501C>T (p.Val1167=) rs764906118 0.00001
NM_004525.3(LRP2):c.3602T>C (p.Ile1201Thr) rs767986542 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_004525.3(LRP2):c.3721G>T (p.Gly1241Cys) rs1187539374 0.00001
NM_004525.3(LRP2):c.4066T>A (p.Phe1356Ile) rs775393937 0.00001
NM_004525.3(LRP2):c.4270G>T (p.Asp1424Tyr) rs777093582 0.00001
NM_004525.3(LRP2):c.4804G>A (p.Gly1602Ser) rs765078256 0.00001
NM_004525.3(LRP2):c.4849T>A (p.Ser1617Thr) rs775105684 0.00001
NM_004525.3(LRP2):c.4855C>A (p.Leu1619Ile) rs766931921 0.00001
NM_004525.3(LRP2):c.4894C>T (p.Arg1632Trp) rs773659431 0.00001
NM_004525.3(LRP2):c.4920+6T>C rs748575807 0.00001
NM_004525.3(LRP2):c.4990C>T (p.Arg1664Trp) rs141693781 0.00001
NM_004525.3(LRP2):c.5429A>G (p.Asn1810Ser) rs1447688378 0.00001
NM_004525.3(LRP2):c.5701G>A (p.Ala1901Thr) rs533012078 0.00001
NM_004525.3(LRP2):c.5755G>A (p.Glu1919Lys) rs561702323 0.00001
NM_004525.3(LRP2):c.5867T>G (p.Leu1956Arg) rs756470766 0.00001
NM_004525.3(LRP2):c.6374G>A (p.Arg2125His) rs752202886 0.00001
NM_004525.3(LRP2):c.6671A>G (p.Asn2224Ser) rs957137487 0.00001
NM_004525.3(LRP2):c.6710G>A (p.Arg2237Gln) rs927460259 0.00001
NM_004525.3(LRP2):c.7247A>G (p.Asn2416Ser) rs1326475927 0.00001
NM_004525.3(LRP2):c.7515C>T (p.Arg2505=) rs773316402 0.00001
NM_004525.3(LRP2):c.80-10A>G rs769089398 0.00001
NM_004525.3(LRP2):c.8020G>A (p.Glu2674Lys) rs763170196 0.00001
NM_004525.3(LRP2):c.8096G>A (p.Arg2699Gln) rs867912144 0.00001
NM_004525.3(LRP2):c.8623C>T (p.Arg2875Cys) rs1308246487 0.00001
NM_004525.3(LRP2):c.8702A>G (p.His2901Arg) rs886055083 0.00001
NM_004525.3(LRP2):c.876C>T (p.Cys292=) rs201503356 0.00001
NM_004525.3(LRP2):c.9290T>C (p.Leu3097Pro) rs892125029 0.00001
NM_004525.3(LRP2):c.9733G>A (p.Asp3245Asn) rs759025536 0.00001
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=) rs1486598660 0.00001
NM_004530.6(MMP2):c.1453A>T (p.Ile485Phe) rs141440582 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_004560.4(ROR2):c.1322G>A (p.Arg441Gln) rs142993413 0.00001
NM_004560.4(ROR2):c.1502C>A (p.Thr501Asn) rs142047260 0.00001
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) rs769352677 0.00001
NM_004560.4(ROR2):c.1639C>A (p.Gln547Lys) rs1489863862 0.00001
NM_004560.4(ROR2):c.1687G>A (p.Glu563Lys) rs186571882 0.00001
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004560.4(ROR2):c.2155G>A (p.Ala719Thr) rs375448033 0.00001
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu) rs370882834 0.00001
NM_004560.4(ROR2):c.334C>T (p.Arg112Trp) rs868585233 0.00001
NM_004560.4(ROR2):c.457C>T (p.Arg153Trp) rs745695427 0.00001
NM_004560.4(ROR2):c.533G>A (p.Arg178Gln) rs746562213 0.00001
NM_004560.4(ROR2):c.768C>T (p.Cys256=) rs772113008 0.00001
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys) rs543118807 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_004588.5(SCN2B):c.237G>C (p.Met79Ile) rs142643516 0.00001
NM_004589.4(SCO1):c.242C>G (p.Pro81Arg) rs1224695466 0.00001
NM_004589.4(SCO1):c.445C>T (p.Arg149Cys) rs762548598 0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys) rs775176412 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) rs1451194842 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.205G>C (p.Gly69Arg) rs533660155 0.00001
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala) rs55779831 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro) rs748738986 0.00001
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile) rs756069860 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1492A>C (p.Asn498His) rs748364103 0.00001
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr) rs373151602 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln) rs1309056736 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) rs765095688 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.2634C>T (p.Asn878=) rs746676515 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=) rs761090110 0.00001
NM_004646.4(NPHS1):c.3594+9C>T rs766396905 0.00001
NM_004646.4(NPHS1):c.393C>T (p.Ile131=) rs181246281 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) rs730881398 0.00001
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val) rs373442399 0.00001
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn) rs878854724 0.00001
NM_004656.4(BAP1):c.1179G>T (p.Gln393His) rs771803950 0.00001
NM_004656.4(BAP1):c.1619G>A (p.Arg540His) rs772037576 0.00001
NM_004656.4(BAP1):c.227T>C (p.Ile76Thr) rs1221534458 0.00001
NM_004656.4(BAP1):c.982C>G (p.Pro328Ala) rs760860535 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.486G>A (p.Ala162=) rs371131557 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004836.7(EIF2AK3):c.1310C>A (p.Ser437Tyr) rs200574679 0.00001
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=) rs753150455 0.00001
NM_004836.7(EIF2AK3):c.1481C>T (p.Thr494Ile) rs965316271 0.00001
NM_004836.7(EIF2AK3):c.1576G>A (p.Val526Ile) rs1674713665 0.00001
NM_004836.7(EIF2AK3):c.1622G>A (p.Arg541His) rs758957898 0.00001
NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser) rs776579341 0.00001
NM_004836.7(EIF2AK3):c.2064C>A (p.Ser688Arg) rs771612567 0.00001
NM_004836.7(EIF2AK3):c.2093G>A (p.Arg698His) rs780592115 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004836.7(EIF2AK3):c.2710T>C (p.Cys904Arg) rs752726105 0.00001
NM_004836.7(EIF2AK3):c.2923A>G (p.Met975Val) rs759906972 0.00001
NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn) rs762080456 0.00001
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=) rs138199678 0.00001
NM_004836.7(EIF2AK3):c.63G>A (p.Leu21=) rs984341375 0.00001
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp) rs549674310 0.00001
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=) rs200269395 0.00001
NM_004924.6(ACTN4):c.2011-4G>A rs377158228 0.00001
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) rs754477143 0.00001
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) rs121908415 0.00001
NM_004937.3(CTNS):c.140+3A>G rs778641729 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.729C>T (p.Leu243=) rs762142619 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu) rs1456163008 0.00001
NM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His) rs1397140992 0.00001
NM_004944.4(DNASE1L3):c.320+17C>A rs376951611 0.00001
NM_004944.4(DNASE1L3):c.359A>G (p.His120Arg) rs1282131721 0.00001
NM_004958.4(MTOR):c.2045G>A (p.Arg682His) rs778348776 0.00001
NM_004958.4(MTOR):c.4570+5A>G rs370139854 0.00001
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg) rs1305901422 0.00001
NM_004984.4(KIF5A):c.1569+6T>C rs1191410072 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_004994.3(MMP9):c.458C>A (p.Pro153Gln) rs753889026 0.00001
NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr) rs746688811 0.00001
NM_004998.4(MYO1E):c.2050-3C>T rs776916643 0.00001
NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys) rs765316403 0.00001
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=) rs774695459 0.00001
NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg) rs372582214 0.00001
NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser) rs542281660 0.00001
NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys) rs753956205 0.00001
NM_004998.4(MYO1E):c.818C>T (p.Thr273Met) rs766788690 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005026.5(PIK3CD):c.1955+5C>T rs201785210 0.00001
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) rs772782368 0.00001
NM_005045.4(RELN):c.1480A>G (p.Ile494Val) rs372015884 0.00001
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu) rs114993407 0.00001
NM_005045.4(RELN):c.3147-15C>T rs773147896 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439 0.00001
NM_005045.4(RELN):c.491G>A (p.Arg164Gln) rs1193525098 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005045.4(RELN):c.7182G>A (p.Ala2394=) rs879182818 0.00001
NM_005051.3(QARS1):c.1267A>G (p.Thr423Ala) rs746791896 0.00001
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile) rs1272838959 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val) rs761730497 0.00001
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr) rs772147307 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) rs759585425 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) rs762677807 0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) rs200508558 0.00001
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu) rs369547447 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.2055A>G (p.Lys685=) rs1454595224 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) rs1465141746 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) rs756736832 0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) rs376679438 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=) rs369559394 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005247.4(FGF3):c.100G>T (p.Gly34Cys) rs1039515359 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005378.6(MYCN):c.718G>A (p.Gly240Ser) rs1397907417 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249 0.00001
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_005458.8(GABBR2):c.2412+3A>G rs74429712 0.00001
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 0.00001
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr) rs1485350191 0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_005477.3(HCN4):c.1115G>A (p.Arg372Gln) rs748658688 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser) rs573588965 0.00001
NM_005477.3(HCN4):c.134G>T (p.Arg45Leu) rs1416460262 0.00001
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp) rs1304145729 0.00001
NM_005477.3(HCN4):c.1465A>G (p.Met489Val) rs1157049194 0.00001
NM_005477.3(HCN4):c.1796C>T (p.Ala599Val) rs775019344 0.00001
NM_005477.3(HCN4):c.1987C>A (p.Leu663Met) rs1265876338 0.00001
NM_005477.3(HCN4):c.2309C>T (p.Thr770Met) rs763021264 0.00001
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr) rs148714049 0.00001
NM_005477.3(HCN4):c.2422C>T (p.Pro808Ser) rs2042879557 0.00001
NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro) rs1404692878 0.00001
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg) rs373572497 0.00001
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val) rs777560053 0.00001
NM_005477.3(HCN4):c.2902C>T (p.Pro968Ser) rs759692338 0.00001
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala) rs367719274 0.00001
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser) rs748634893 0.00001
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro) rs890395300 0.00001
NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter) rs762950777 0.00001
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala) rs1064796786 0.00001
NM_005477.3(HCN4):c.3203G>A (p.Arg1068His) rs776270218 0.00001
NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln) rs760242560 0.00001
NM_005477.3(HCN4):c.3261C>T (p.Ser1087=) rs537717251 0.00001
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg) rs753734843 0.00001
NM_005477.3(HCN4):c.493C>T (p.Pro165Ser) rs1489387068 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val) rs773957659 0.00001
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro) rs757381866 0.00001
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser) rs1191433680 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser) rs878853018 0.00001
NM_005506.4(SCARB2):c.276-17C>T rs1732375088 0.00001
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu) rs1241257632 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_005506.4(SCARB2):c.994+2T>C rs1168653552 0.00001
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu) rs548959409 0.00001
NM_005515.4(MNX1):c.692-18C>T rs775967115 0.00001
NM_005515.4(MNX1):c.956G>A (p.Gly319Asp) rs758672581 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6871-10G>A rs1342636987 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe) rs200374822 0.00001
NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp) rs570102851 0.00001
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg) rs786203158 0.00001
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val) rs786203159 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005633.4(SOS1):c.1075-16C>T rs112540686 0.00001
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile) rs1212129369 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln) rs149775695 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met) rs747203627 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.213+9A>G rs553097014 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr) rs1335137808 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr) rs768987761 0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu) rs533661246 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.3902A>G (p.His1301Arg) rs771396497 0.00001
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853 0.00001
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln) rs374761537 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg) rs1386858430 0.00001
NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys) rs763432574 0.00001
NM_005732.4(RAD50):c.214G>A (p.Val72Ile) rs118029772 0.00001
NM_005732.4(RAD50):c.2204T>A (p.Met735Lys) rs757043253 0.00001
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726 0.00001
NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly) rs772155267 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.344A>G (p.Glu115Gly) rs749567681 0.00001
NM_005732.4(RAD50):c.3779G>A (p.Arg1260His) rs367683141 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val) rs1040204302 0.00001
NM_005751.5(AKAP9):c.1044A>C (p.Leu348=) rs747912745 0.00001
NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr) rs146186205 0.00001
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His) rs751653287 0.00001
NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn) rs1052036778 0.00001
NM_005751.5(AKAP9):c.10871G>A (p.Arg3624Gln) rs377561989 0.00001
NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser) rs779122050 0.00001
NM_005751.5(AKAP9):c.1700C>T (p.Thr567Ile) rs754575296 0.00001
NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala) rs372076987 0.00001
NM_005751.5(AKAP9):c.2368A>G (p.Met790Val) rs776190475 0.00001
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) rs750350575 0.00001
NM_005751.5(AKAP9):c.4070C>T (p.Thr1357Ile) rs1227164653 0.00001
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) rs762293635 0.00001
NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala) rs774408420 0.00001
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) rs763748052 0.00001
NM_005751.5(AKAP9):c.4394C>A (p.Ser1465Tyr) rs779325943 0.00001
NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro) rs763681864 0.00001
NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly) rs776312514 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu) rs1376036983 0.00001
NM_005751.5(AKAP9):c.5638C>T (p.Arg1880Cys) rs761946454 0.00001
NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val) rs1463067477 0.00001
NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter) rs1060503553 0.00001
NM_005751.5(AKAP9):c.6916C>T (p.Gln2306Ter) rs899419546 0.00001
NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr) rs61746591 0.00001
NM_005751.5(AKAP9):c.793C>G (p.Gln265Glu) rs1798307146 0.00001
NM_005751.5(AKAP9):c.8052A>G (p.Glu2684=) rs878854810 0.00001
NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His) rs773428761 0.00001
NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr) rs769119204 0.00001
NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys) rs771303714 0.00001
NM_005857.5(ZMPSTE24):c.1416G>T (p.Met472Ile) rs763989458 0.00001
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597 0.00001
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr) rs1962721856 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) rs752432398 0.00001
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) rs1368643838 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) rs748627503 0.00001
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) rs368264587 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp) rs1064796675 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.1179C>T (p.Ala393=) rs746433560 0.00001
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) rs935411471 0.00001
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) rs775039116 0.00001
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1560G>A (p.Gln520=) rs776513501 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) rs760990181 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) rs1432704019 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2286G>A (p.Lys762=) rs200663929 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2388C>T (p.Asp796=) rs71532868 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) rs141816346 0.00001
NM_006005.3(WFS1):c.33C>A (p.Ser11=) rs1185590827 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) rs772915458 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) rs142687752 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) rs774525063 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.816C>T (p.Asp272=) rs762774307 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) rs1244525711 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro) rs1449131788 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 0.00001
NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu) rs1428813959 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NM_006059.4(LAMC3):c.3499A>G (p.Arg1167Gly) rs561097705 0.00001
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) rs745563456 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) rs545032318 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006180.6(NTRK2):c.1549G>A (p.Val517Ile) rs1285574585 0.00001
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu) rs1060501502 0.00001
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr) rs1346616192 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) rs1048183984 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.415C>T (p.Leu139=) rs1302399839 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006258.4(PRKG1):c.1073C>G (p.Ala358Gly) rs754567668 0.00001
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr) rs886039042 0.00001
NM_006258.4(PRKG1):c.75C>A (p.Ile25=) rs776048746 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter) rs765035454 0.00001
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn) rs1252073669 0.00001
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln) rs1556890153 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_006348.5(COG5):c.858G>A (p.Met286Ile) rs1325740175 0.00001
NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser) rs552941425 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.493-3C>T rs764555217 0.00001
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) rs372408400 0.00001
NM_006412.4(AGPAT2):c.662-2A>C rs1131691791 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006514.4(SCN10A):c.1867+8C>T rs370354229 0.00001
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn) rs781354273 0.00001
NM_006514.4(SCN10A):c.2616G>A (p.Thr872=) rs754088416 0.00001
NM_006514.4(SCN10A):c.2923C>T (p.Gln975Ter) rs755553717 0.00001
NM_006514.4(SCN10A):c.2965G>A (p.Ala989Thr) rs766280701 0.00001
NM_006514.4(SCN10A):c.3421G>A (p.Val1141Met) rs112412281 0.00001
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp) rs766044301 0.00001
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser) rs978977328 0.00001
NM_006514.4(SCN10A):c.4763G>A (p.Arg1588Gln) rs376439863 0.00001
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser) rs1420941706 0.00001
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln) rs191869263 0.00001
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser) rs371909817 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_006565.4(CTCF):c.1962A>C (p.Arg654=) rs772451262 0.00001
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro) rs754132045 0.00001
NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) rs761873372 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser) rs756642876 0.00001
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn) rs377237088 0.00001
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr) rs1041307493 0.00001
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val) rs769796315 0.00001
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln) rs772853104 0.00001
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr) rs1015302300 0.00001
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe) rs1432354431 0.00001
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=) rs757292520 0.00001
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln) rs750265815 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 0.00001
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=) rs754838222 0.00001
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) rs913322544 0.00001
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val) rs372403021 0.00001
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997 0.00001
NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) rs140083344 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.2130+6A>T rs894326862 0.00001
NM_006662.3(SRCAP):c.2402G>A (p.Arg801His) rs1368368027 0.00001
NM_006662.3(SRCAP):c.278A>G (p.His93Arg) rs555507140 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His) rs754130604 0.00001
NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser) rs143556666 0.00001
NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu) rs1402428342 0.00001
NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln) rs754274438 0.00001
NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp) rs371915992 0.00001
NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr) rs753836409 0.00001
NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg) rs770109840 0.00001
NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys) rs760273993 0.00001
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=) rs973709922 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr) rs765011916 0.00001
NM_006904.7(PRKDC):c.8357A>G (p.Lys2786Arg) rs1261223784 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006922.4(SCN3A):c.2392-9A>G rs199781617 0.00001
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) rs756487822 0.00001
NM_007078.3(LDB3):c.-20C>T rs531819676 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.2037C>T (p.Gly679=) rs754386652 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val) rs200270653 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1096-6T>G rs1180195480 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007214.5(SEC63):c.2028A>G (p.Thr676=) rs781747090 0.00001
NM_007214.5(SEC63):c.452+3A>G rs767207844 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe) rs774917613 0.00001
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg) rs1348750495 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) rs587781768 0.00001
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) rs141255461 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) rs587782747 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) rs748156170 0.00001
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.619G>A (p.Val207Met) rs998435032 0.00001
NM_012062.5(DNM1L):c.1596+2T>A rs769684495 0.00001
NM_012120.3(CD2AP):c.521A>C (p.His174Pro) rs762020246 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_012200.4(B3GAT3):c.619-12G>A rs372473452 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn) rs778321975 0.00001
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg) rs1266244841 0.00001
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser) rs781488306 0.00001
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val) rs987882732 0.00001
NM_012210.4(TRIM32):c.134G>A (p.Arg45His) rs143760041 0.00001
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu) rs371233848 0.00001
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp) rs147803099 0.00001
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln) rs761503419 0.00001
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) rs763172140 0.00001
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys) rs754449534 0.00001
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp) rs776796546 0.00001
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro) rs767818381 0.00001
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val) rs755478136 0.00001
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys) rs760202414 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp) rs1378775801 0.00001
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys) rs568433214 0.00001
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser) rs374248541 0.00001
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val) rs139113969 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu) rs759742371 0.00001
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) rs794727284 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012275.3(IL36RN):c.-28+1G>A rs1440056356 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_012301.4(MAGI2):c.1406C>T (p.Thr469Ile) rs770681130 0.00001
NM_012301.4(MAGI2):c.3022C>T (p.Pro1008Ser) rs764279398 0.00001
NM_012301.4(MAGI2):c.743T>A (p.Val248Glu) rs761048587 0.00001
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) rs1842093971 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) rs756038238 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) rs779092722 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795 0.00001
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098 0.00001
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) rs768606535 0.00001
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) rs765517064 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) rs397515424 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013275.6(ANKRD11):c.3340T>A (p.Tyr1114Asn) rs1461435321 0.00001
NM_013275.6(ANKRD11):c.4561G>A (p.Glu1521Lys) rs1332875546 0.00001
NM_013275.6(ANKRD11):c.4925C>T (p.Pro1642Leu) rs753598147 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_014000.3(VCL):c.1046C>T (p.Ala349Val) rs777709634 0.00001
NM_014000.3(VCL):c.1246C>T (p.Arg416Trp) rs746004026 0.00001
NM_014000.3(VCL):c.1298G>A (p.Arg433His) rs754046223 0.00001
NM_014000.3(VCL):c.1435C>T (p.Arg479Trp) rs369055603 0.00001
NM_014000.3(VCL):c.1465G>A (p.Ala489Thr) rs1449290312 0.00001
NM_014000.3(VCL):c.1503G>C (p.Gln501His) rs1203105475 0.00001
NM_014000.3(VCL):c.1640G>A (p.Arg547Gln) rs748044427 0.00001
NM_014000.3(VCL):c.1865G>A (p.Arg622Lys) rs771590749 0.00001
NM_014000.3(VCL):c.2001G>A (p.Thr667=) rs747424067 0.00001
NM_014000.3(VCL):c.2023-1G>C rs1840093670 0.00001
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) rs540039788 0.00001
NM_014000.3(VCL):c.2305A>G (p.Arg769Gly) rs566257885 0.00001
NM_014000.3(VCL):c.238A>C (p.Lys80Gln) rs775532257 0.00001
NM_014000.3(VCL):c.239+11G>A rs918332199 0.00001
NM_014000.3(VCL):c.239+6T>G rs752335603 0.00001
NM_014000.3(VCL):c.2528C>T (p.Pro843Leu) rs764302249 0.00001
NM_014000.3(VCL):c.2558G>A (p.Arg853Gln) rs992716111 0.00001
NM_014000.3(VCL):c.2807C>T (p.Ala936Val) rs754681045 0.00001
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) rs749236817 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) rs767325003 0.00001
NM_014000.3(VCL):c.313C>T (p.Arg105Ter) rs397517239 0.00001
NM_014000.3(VCL):c.3381T>C (p.Val1127=) rs943734765 0.00001
NM_014000.3(VCL):c.527A>G (p.Asp176Gly) rs573623641 0.00001
NM_014000.3(VCL):c.550C>T (p.His184Tyr) rs1321660809 0.00001
NM_014000.3(VCL):c.739G>A (p.Val247Met) rs545372383 0.00001
NM_014000.3(VCL):c.844G>T (p.Gly282Cys) rs766091503 0.00001
NM_014000.3(VCL):c.952C>T (p.Arg318Cys) rs397517247 0.00001
NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser) rs1408544161 0.00001
NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln) rs782726788 0.00001
NM_014009.4(FOXP3):c.124G>A (p.Gly42Arg) rs782178764 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014028.4(OSTM1):c.960C>G (p.Leu320=) rs201793834 0.00001
NM_014049.5(ACAD9):c.1030-1G>T rs773586510 0.00001
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr) rs763004980 0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 0.00001
NM_014140.4(SMARCAL1):c.1411A>G (p.Ile471Val) rs770049590 0.00001
NM_014140.4(SMARCAL1):c.1464C>T (p.Ser488=) rs139469074 0.00001
NM_014140.4(SMARCAL1):c.154G>C (p.Gly52Arg) rs768891693 0.00001
NM_014140.4(SMARCAL1):c.1553G>A (p.Arg518His) rs774075396 0.00001
NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val) rs1694331950 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=) rs1360338749 0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His) rs1281345070 0.00001
NM_014140.4(SMARCAL1):c.2245-10G>T rs759266842 0.00001
NM_014140.4(SMARCAL1):c.2260C>T (p.Arg754Cys) rs1226816517 0.00001
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=) rs918169495 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=) rs1325176430 0.00001
NM_014140.4(SMARCAL1):c.2478C>T (p.Ser826=) rs367698810 0.00001
NM_014140.4(SMARCAL1):c.2644A>G (p.Ile882Val) rs752187073 0.00001
NM_014140.4(SMARCAL1):c.2650G>A (p.Asp884Asn) rs763712548 0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=) rs755396021 0.00001
NM_014140.4(SMARCAL1):c.2834A>G (p.Asp945Gly) rs1163886519 0.00001
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu) rs762590281 0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.549G>T (p.Gln183His) rs774029345 0.00001
NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser) rs1265303129 0.00001
NM_014140.4(SMARCAL1):c.782T>A (p.Val261Glu) rs754882213 0.00001
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315 0.00001
NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser) rs200823464 0.00001
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) rs751707090 0.00001
NM_014159.7(SETD2):c.2997A>G (p.Val999=) rs1387514420 0.00001
NM_014239.4(EIF2B2):c.672C>T (p.Ala224=) rs528714025 0.00001
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=) rs372834434 0.00001
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=) rs1182897591 0.00001
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln) rs772028555 0.00001
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter) rs367553801 0.00001
NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn) rs1420894727 0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=) rs767304567 0.00001
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro) rs771928643 0.00001
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014264.5(PLK4):c.160G>A (p.Val54Ile) rs771069245 0.00001
NM_014264.5(PLK4):c.1935+4A>T rs758425287 0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys) rs773200383 0.00001
NM_014264.5(PLK4):c.609A>G (p.Thr203=) rs564323488 0.00001
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val) rs769448665 0.00001
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys) rs771811712 0.00001
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu) rs770811201 0.00001
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) rs752338178 0.00001
NM_014317.5(PDSS1):c.227+10C>T rs778136255 0.00001
NM_014317.5(PDSS1):c.296G>T (p.Gly99Val) rs777579681 0.00001
NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg) rs1002908038 0.00001
NM_014317.5(PDSS1):c.802G>A (p.Ala268Thr) rs767397399 0.00001
NM_014317.5(PDSS1):c.988G>A (p.Gly330Arg) rs773085493 0.00001
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) rs774180397 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp) rs772357501 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val) rs372494676 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1177C>G (p.Pro393Ala) rs1441776664 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1436A>G (p.Asn479Ser) rs773285164 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1595T>C (p.Leu532Ser) rs1446860684 0.00001
NM_014425.5(INVS):c.1633G>C (p.Glu545Gln) rs1832999935 0.00001
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1976G>A (p.Arg659Lys) rs201738845 0.00001
NM_014425.5(INVS):c.2021A>G (p.Gln674Arg) rs750909979 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.2539C>T (p.His847Tyr) rs1041470924 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.2888A>T (p.Gln963Leu) rs996350769 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3149C>T (p.Ser1050Phe) rs969660773 0.00001
NM_014425.5(INVS):c.349C>G (p.Pro117Ala) rs1021818693 0.00001
NM_014425.5(INVS):c.368G>A (p.Arg123Gln) rs757534991 0.00001
NM_014425.5(INVS):c.500T>C (p.Leu167Pro) rs374420212 0.00001
NM_014425.5(INVS):c.520A>C (p.Asn174His) rs370730139 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_014625.4(NPHS2):c.138G>T (p.Ser46=) rs1053139144 0.00001
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.534+5G>A rs1237310267 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014669.5(NUP93):c.1985G>A (p.Arg662Lys) rs561638940 0.00001
NM_014669.5(NUP93):c.910C>T (p.Pro304Ser) rs971247149 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041 0.00001
NM_014795.4(ZEB2):c.2256G>A (p.Thr752=) rs772121083 0.00001
NM_014844.5(TECPR2):c.2528G>A (p.Arg843His) rs765981384 0.00001
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) rs140350881 0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) rs747555089 0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) rs763132281 0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) rs201363976 0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) rs765475110 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys) rs780974264 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1143C>T (p.Asp381=) rs375647094 0.00001
NM_014956.5(CEP164):c.1226A>G (p.His409Arg) rs747489061 0.00001
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp) rs575328059 0.00001
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu) rs1324951273 0.00001
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln) rs573209223 0.00001
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr) rs943322658 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe) rs923498039 0.00001
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln) rs763183525 0.00001
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp) rs201175046 0.00001
NM_014956.5(CEP164):c.2268A>G (p.Glu756=) rs750395570 0.00001
NM_014956.5(CEP164):c.2473G>A (p.Val825Met) rs373870559 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His) rs774896440 0.00001
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp) rs986338516 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218 0.00001
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg) rs1416554475 0.00001
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln) rs752093126 0.00001
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=) rs575735586 0.00001
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn) rs562234273 0.00001
NM_014956.5(CEP164):c.3279-12C>T rs749577674 0.00001
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His) rs758759503 0.00001
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=) rs371592315 0.00001
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr) rs769207410 0.00001
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys) rs753906680 0.00001
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp) rs769676851 0.00001
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln) rs769627423 0.00001
NM_014967.5(FAN1):c.877G>T (p.Val293Phe) rs747058468 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015047.3(EMC1):c.2065-4C>T rs777919151 0.00001
NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter) rs370952454 0.00001
NM_015102.5(NPHP4):c.1006G>C (p.Ala336Pro) rs369951224 0.00001
NM_015102.5(NPHP4):c.1253C>T (p.Ser418Leu) rs767476133 0.00001
NM_015102.5(NPHP4):c.1360C>T (p.His454Tyr) rs374792772 0.00001
NM_015102.5(NPHP4):c.1405C>T (p.Arg469Trp) rs758253306 0.00001
NM_015102.5(NPHP4):c.1406G>A (p.Arg469Gln) rs1320696639 0.00001
NM_015102.5(NPHP4):c.1504-1G>A rs1204924769 0.00001
NM_015102.5(NPHP4):c.1511T>G (p.Ile504Ser) rs1209081705 0.00001
NM_015102.5(NPHP4):c.1675G>A (p.Val559Ile) rs931907795 0.00001
NM_015102.5(NPHP4):c.1725T>C (p.Pro575=) rs376871620 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015102.5(NPHP4):c.202C>T (p.Arg68Trp) rs771873685 0.00001
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197 0.00001
NM_015102.5(NPHP4):c.2218C>T (p.Arg740Cys) rs766088144 0.00001
NM_015102.5(NPHP4):c.2237C>G (p.Thr746Ser) rs780500004 0.00001
NM_015102.5(NPHP4):c.2251G>A (p.Val751Ile) rs754838672 0.00001
NM_015102.5(NPHP4):c.2304+5C>T rs367651042 0.00001
NM_015102.5(NPHP4):c.2314C>T (p.Arg772Cys) rs149928611 0.00001
NM_015102.5(NPHP4):c.2612-19C>T rs370230211 0.00001
NM_015102.5(NPHP4):c.2718C>T (p.Arg906=) rs576473519 0.00001
NM_015102.5(NPHP4):c.2770C>G (p.Leu924Val) rs770984804 0.00001
NM_015102.5(NPHP4):c.280-5T>G rs908276068 0.00001
NM_015102.5(NPHP4):c.3039G>C (p.Glu1013Asp) rs747091960 0.00001
NM_015102.5(NPHP4):c.3044+11_3044+13del rs769643669 0.00001
NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala) rs201591531 0.00001
NM_015102.5(NPHP4):c.3316-15G>A rs745974669 0.00001
NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His) rs763251283 0.00001
NM_015102.5(NPHP4):c.3410A>G (p.Tyr1137Cys) rs765444252 0.00001
NM_015102.5(NPHP4):c.3476C>T (p.Ala1159Val) rs369021103 0.00001
NM_015102.5(NPHP4):c.3530C>T (p.Pro1177Leu) rs749612555 0.00001
NM_015102.5(NPHP4):c.355C>T (p.Arg119Trp) rs772214126 0.00001
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His) rs569553635 0.00001
NM_015102.5(NPHP4):c.3816+4C>T rs764632297 0.00001
NM_015102.5(NPHP4):c.3976C>T (p.Arg1326Cys) rs531607950 0.00001
NM_015102.5(NPHP4):c.400C>T (p.Arg134Trp) rs375476413 0.00001
NM_015102.5(NPHP4):c.4018G>A (p.Ala1340Thr) rs958569972 0.00001
NM_015102.5(NPHP4):c.4220A>G (p.Tyr1407Cys) rs373315843 0.00001
NM_015102.5(NPHP4):c.4239C>G (p.Asp1413Glu) rs763112800 0.00001
NM_015102.5(NPHP4):c.452+3A>G rs1426440104 0.00001
NM_015102.5(NPHP4):c.512C>T (p.Ala171Val) rs763307389 0.00001
NM_015102.5(NPHP4):c.51C>A (p.His17Gln) rs766636945 0.00001
NM_015102.5(NPHP4):c.559T>C (p.Tyr187His) rs1027187670 0.00001
NM_015102.5(NPHP4):c.806A>C (p.Gln269Pro) rs1182919955 0.00001
NM_015102.5(NPHP4):c.815G>A (p.Cys272Tyr) rs1349348418 0.00001
NM_015102.5(NPHP4):c.821C>T (p.Pro274Leu) rs752624938 0.00001
NM_015141.4(GPD1L):c.376del (p.Glu126fs) rs761698828 0.00001
NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys) rs771369026 0.00001
NM_015141.4(GPD1L):c.416G>A (p.Arg139His) rs775043567 0.00001
NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly) rs754861753 0.00001
NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser) rs1446434571 0.00001
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr) rs188138719 0.00001
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu) rs1409253059 0.00001
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu) rs774304068 0.00001
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys) rs201799095 0.00001
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) rs745774146 0.00001
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) rs780258278 0.00001
NM_015158.5(KANK1):c.2474A>G (p.His825Arg) rs1324583042 0.00001
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) rs187246624 0.00001
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) rs771646121 0.00001
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) rs770900793 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_015192.4(PLCB1):c.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015267.4(CUX2):c.560+3G>A rs371759572 0.00001
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe) rs747867189 0.00001
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249 0.00001
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln) rs758759988 0.00001
NM_015272.5(RPGRIP1L):c.1143G>C (p.Lys381Asn) rs949199630 0.00001
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn) rs777834264 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp) rs377512064 0.00001
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly) rs371841392 0.00001
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe) rs147331527 0.00001
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn) rs145516192 0.00001
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys) rs781713688 0.00001
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu) rs775017742 0.00001
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=) rs375766769 0.00001
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro) rs776297522 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His) rs1338012833 0.00001
NM_015272.5(RPGRIP1L):c.2351C>G (p.Ser784Cys) rs1196015536 0.00001
NM_015272.5(RPGRIP1L):c.2408A>G (p.Gln803Arg) rs1966513057 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg) rs752772082 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys) rs768030202 0.00001
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His) rs1480250597 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201 0.00001
NM_015272.5(RPGRIP1L):c.3432+6T>G rs543688285 0.00001
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile) rs905516252 0.00001
NM_015272.5(RPGRIP1L):c.3616+9G>T rs934455196 0.00001
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=) rs1239622461 0.00001
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167 0.00001
NM_015272.5(RPGRIP1L):c.3809G>A (p.Arg1270Lys) rs1963624413 0.00001
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr) rs764832127 0.00001
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg) rs776310931 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) rs769611947 0.00001
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=) rs1266143274 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His) rs1970020650 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015272.5(RPGRIP1L):c.788G>A (p.Arg263Gln) rs916661298 0.00001
NM_015272.5(RPGRIP1L):c.882+12A>G rs1264347960 0.00001
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) rs750782462 0.00001
NM_015346.4(ZFYVE26):c.273+8G>A rs750522064 0.00001
NM_015346.4(ZFYVE26):c.4452G>C (p.Arg1484Ser) rs368241137 0.00001
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter) rs756042888 0.00001
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015443.4(KANSL1):c.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His) rs769289937 0.00001
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008 0.00001
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) rs761904173 0.00001
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) rs749337566 0.00001
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp) rs1322831151 0.00001
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln) rs376635152 0.00001
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala) rs371450753 0.00001
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val) rs760256746 0.00001
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser) rs199769766 0.00001
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val) rs775582928 0.00001
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala) rs778413024 0.00001
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val) rs759522694 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln) rs946605027 0.00001
NM_015512.5(DNAH1):c.7676del (p.Val2559fs) rs765417610 0.00001
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser) rs202033408 0.00001
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu) rs762069191 0.00001
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr) rs1047410438 0.00001
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr) rs776148073 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2796G>A (p.Glu932=) rs566830176 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val) rs1665910456 0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg) rs765703265 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) rs777980611 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) rs549415233 0.00001
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) rs749884570 0.00001
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) rs917873749 0.00001
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) rs868748622 0.00001
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) rs146309780 0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu) rs751967235 0.00001
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) rs371993270 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.322-7T>C rs570137520 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala) rs538592084 0.00001
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) rs769425183 0.00001
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser) rs779714128 0.00001
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val) rs1040913823 0.00001
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys) rs769165669 0.00001
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg) rs373940251 0.00001
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu) rs750245323 0.00001
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr) rs370842356 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.161-14C>T rs755586280 0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val) rs1168632851 0.00001
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu) rs750924240 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 0.00001
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His) rs373413042 0.00001
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys) rs1242470451 0.00001
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys) rs765674630 0.00001
NM_015910.7(WDPCP):c.210G>A (p.Ala70=) rs961809737 0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=) rs769550847 0.00001
NM_015910.7(WDPCP):c.2190+1G>A rs1671980611 0.00001
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn) rs1206045016 0.00001
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln) rs746158542 0.00001
NM_015910.7(WDPCP):c.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe) rs756891717 0.00001
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg) rs952535961 0.00001
NM_015910.7(WDPCP):c.486C>T (p.Asp162=) rs372538263 0.00001
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly) rs750252971 0.00001
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu) rs755148252 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser) rs761312526 0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val) rs774816454 0.00001
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val) rs747114578 0.00001
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp) rs545767612 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe) rs565278457 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu) rs754221547 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val) rs750965550 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.4779+5G>A rs772198042 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg) rs756396137 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser) rs746127887 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_016335.6(PRODH):c.1615+1G>C rs745902339 0.00001
NM_016341.4(PLCE1):c.1642C>T (p.Arg548Cys) rs369152754 0.00001
NM_016341.4(PLCE1):c.3491C>T (p.Thr1164Met) rs540730568 0.00001
NM_016341.4(PLCE1):c.3876G>A (p.Ser1292=) rs886047501 0.00001
NM_016341.4(PLCE1):c.4447A>G (p.Ile1483Val) rs886047503 0.00001
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter) rs548655036 0.00001
NM_016341.4(PLCE1):c.6862C>A (p.Pro2288Thr) rs571727623 0.00001
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu) rs554313786 0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) rs776415168 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_016356.5(DCDC2):c.923-18G>A rs768651764 0.00001
NM_016360.4(TACO1):c.27A>G (p.Leu9=) rs1437447929 0.00001
NM_016360.4(TACO1):c.476A>G (p.Lys159Arg) rs1317601804 0.00001
NM_016360.4(TACO1):c.847C>G (p.Leu283Val) rs761189530 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu) rs376901669 0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys) rs755233280 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu) rs201971682 0.00001
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) rs543567156 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 0.00001
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys) rs568623659 0.00001
NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val) rs375526531 0.00001
NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr) rs781819330 0.00001
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp) rs782125024 0.00001
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) rs374235442 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) rs775438678 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) rs367589813 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00001
NM_017636.4(TRPM4):c.*316G>A rs990395031 0.00001
NM_017636.4(TRPM4):c.11C>G (p.Pro4Arg) rs1318656879 0.00001
NM_017636.4(TRPM4):c.1263+2T>G rs1005829535 0.00001
NM_017636.4(TRPM4):c.1893T>C (p.Tyr631=) rs765927799 0.00001
NM_017636.4(TRPM4):c.2205T>C (p.Pro735=) rs200681329 0.00001
NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp) rs771427749 0.00001
NM_017636.4(TRPM4):c.24G>A (p.Gln8=) rs2041543043 0.00001
NM_017636.4(TRPM4):c.2564G>T (p.Arg855Leu) rs1288174566 0.00001
NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser) rs749667228 0.00001
NM_017636.4(TRPM4):c.2895C>T (p.Arg965=) rs1271791433 0.00001
NM_017636.4(TRPM4):c.2904C>G (p.Tyr968Ter) rs1179368021 0.00001
NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu) rs575737661 0.00001
NM_017636.4(TRPM4):c.3062T>A (p.Val1021Glu) rs779059936 0.00001
NM_017636.4(TRPM4):c.3130A>T (p.Ser1044Cys) rs780227965 0.00001
NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu) rs1273337644 0.00001
NM_017636.4(TRPM4):c.434C>T (p.Ala145Val) rs767015629 0.00001
NM_017636.4(TRPM4):c.634C>T (p.Arg212Trp) rs759593186 0.00001
NM_017636.4(TRPM4):c.635G>A (p.Arg212Gln) rs183306159 0.00001
NM_017636.4(TRPM4):c.650C>T (p.Pro217Leu) rs750644014 0.00001
NM_017636.4(TRPM4):c.712G>A (p.Gly238Ser) rs923280649 0.00001
NM_017636.4(TRPM4):c.735C>T (p.Gly245=) rs555320255 0.00001
NM_017636.4(TRPM4):c.858G>A (p.Thr286=) rs760622386 0.00001
NM_017636.4(TRPM4):c.994C>T (p.Arg332Ter) rs753753488 0.00001
NM_017649.5(CNNM2):c.1765+11T>C rs901937775 0.00001
NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) rs375262395 0.00001
NM_017649.5(CNNM2):c.2322A>G (p.Thr774=) rs756002318 0.00001
NM_017649.5(CNNM2):c.237G>A (p.Leu79=) rs777820126 0.00001
NM_017662.5(TRPM6):c.1756T>G (p.Ser586Ala) rs191316620 0.00001
NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met) rs962152569 0.00001
NM_017662.5(TRPM6):c.3094+19C>T rs532772332 0.00001
NM_017662.5(TRPM6):c.3211A>G (p.Asn1071Asp) rs2274922 0.00001
NM_017662.5(TRPM6):c.4519G>A (p.Ala1507Thr) rs201465026 0.00001
NM_017662.5(TRPM6):c.5631G>C (p.Lys1877Asn) rs771049990 0.00001
NM_017668.3(NDE1):c.948-3365C>T rs374628714 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser) rs1208556547 0.00001
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala) rs911422083 0.00001
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) rs547298242 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033 0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) rs1373820202 0.00001
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu) rs755898600 0.00001
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp) rs370267935 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 0.00001
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp) rs772260091 0.00001
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg) rs755233517 0.00001
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) rs1014640333 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.2836-5A>G rs779518202 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) rs1415116812 0.00001
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243 0.00001
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440 0.00001
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys) rs759929302 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly) rs1805484724 0.00001
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) rs1448374029 0.00001
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) rs192260844 0.00001
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) rs1047690374 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.6936+6C>T rs762730711 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His) rs763555514 0.00001
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val) rs142095932 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) rs770959300 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) rs1056534038 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg) rs373124679 0.00001
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) rs769500488 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) rs970020036 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His) rs368098310 0.00001
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val) rs761189541 0.00001
NM_017807.4(OSGEP):c.763C>T (p.Gln255Ter) rs200126749 0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His) rs370842354 0.00001
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter) rs145754412 0.00001
NM_017827.4(SARS2):c.373G>A (p.Asp125Asn) rs771968331 0.00001
NM_017827.4(SARS2):c.446T>C (p.Leu149Pro) rs762785941 0.00001
NM_017827.4(SARS2):c.759+4T>C rs749164566 0.00001
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His) rs768048172 0.00001
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_017866.6(TMEM70):c.10C>G (p.Leu4Val) rs779003036 0.00001
NM_017866.6(TMEM70):c.233A>G (p.Tyr78Cys) rs1432671715 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_017866.6(TMEM70):c.422A>G (p.Gln141Arg) rs769437093 0.00001
NM_017866.6(TMEM70):c.440T>C (p.Ile147Thr) rs201306262 0.00001
NM_017866.6(TMEM70):c.763C>T (p.Arg255Trp) rs1364312202 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_017882.3(CLN6):c.317G>A (p.Arg106His) rs781133812 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser) rs755793918 0.00001
NM_017909.4(RMND1):c.201C>A (p.Ile67=) rs182333944 0.00001
NM_017909.4(RMND1):c.501C>T (p.Asn167=) rs374790732 0.00001
NM_017947.4(MOCOS):c.1335+1G>T rs1318625944 0.00001
NM_017947.4(MOCOS):c.1425G>A (p.Leu475=) rs531863176 0.00001
NM_017947.4(MOCOS):c.1960+13C>T rs780074634 0.00001
NM_017947.4(MOCOS):c.305T>A (p.Leu102Gln) rs770912506 0.00001
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) rs202093340 0.00001
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) rs948532763 0.00001
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00001
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter) rs1312712049 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly) rs146690827 0.00001
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu) rs746623168 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) rs773768206 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln) rs761742545 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly) rs61757387 0.00001
NM_018062.4(FANCL):c.881C>T (p.Ala294Val) rs756695293 0.00001
NM_018062.4(FANCL):c.884G>A (p.Arg295His) rs375526911 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys) rs748229072 0.00001
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) rs201129694 0.00001
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) rs186911667 0.00001
NM_018105.3(THAP1):c.506G>A (p.Arg169Gln) rs767519301 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr) rs375087873 0.00001
NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) rs745893720 0.00001
NM_018297.4(NGLY1):c.1150-1G>C rs532007026 0.00001
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748 0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00001
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) rs199578758 0.00001
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=) rs773183035 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018417.6(ADCY10):c.1025G>T (p.Cys342Phe) rs199965059 0.00001
NM_018417.6(ADCY10):c.1139+6T>G rs777564091 0.00001
NM_018417.6(ADCY10):c.3422G>C (p.Cys1141Ser) rs1186181573 0.00001
NM_018417.6(ADCY10):c.4763G>C (p.Arg1588Thr) rs755426228 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.2429A>T (p.Asp810Val) rs1021045841 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364 0.00001
NM_018685.5(ANLN):c.2440A>G (p.Lys814Glu) rs778238903 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018941.4(CLN8):c.17A>G (p.Asp6Gly) rs536738656 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018943.3(TUBA8):c.1117C>T (p.Arg373Trp) rs773537011 0.00001
NM_018965.3(TREM2):c.-51G>A rs3747741 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_018979.4(WNK1):c.131C>T (p.Ala44Val) rs754447060 0.00001
NM_018979.4(WNK1):c.1400+15T>C rs770261817 0.00001
NM_018979.4(WNK1):c.1606G>C (p.Val536Leu) rs145646194 0.00001
NM_018979.4(WNK1):c.1620+4A>C rs765206647 0.00001
NM_018979.4(WNK1):c.1621-3T>C rs746698174 0.00001
NM_018979.4(WNK1):c.1701G>C (p.Arg567Ser) rs1280224791 0.00001
NM_018979.4(WNK1):c.1823C>G (p.Ser608Cys) rs1455320237 0.00001
NM_018979.4(WNK1):c.1952-18G>A rs769918304 0.00001
NM_018979.4(WNK1):c.1983C>T (p.Ser661=) rs766388537 0.00001
NM_018979.4(WNK1):c.2006T>G (p.Val669Gly) rs756433100 0.00001
NM_018979.4(WNK1):c.2625G>A (p.Thr875=) rs763000812 0.00001
NM_018979.4(WNK1):c.2969A>G (p.Tyr990Cys) rs886049923 0.00001
NM_018979.4(WNK1):c.3029T>C (p.Val1010Ala) rs769099133 0.00001
NM_018979.4(WNK1):c.3215A>C (p.His1072Pro) rs376433723 0.00001
NM_018979.4(WNK1):c.3390C>T (p.Asp1130=) rs139904730 0.00001
NM_018979.4(WNK1):c.3545G>A (p.Arg1182Gln) rs749563110 0.00001
NM_018979.4(WNK1):c.392C>G (p.Ser131Cys) rs763490893 0.00001
NM_018979.4(WNK1):c.418G>A (p.Ala140Thr) rs777744427 0.00001
NM_018979.4(WNK1):c.428C>G (p.Pro143Arg) rs1231436981 0.00001
NM_018979.4(WNK1):c.5057G>A (p.Ser1686Asn) rs773910482 0.00001
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val) rs770566791 0.00001
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=) rs557930357 0.00001
NM_018979.4(WNK1):c.5530C>T (p.Pro1844Ser) rs769345308 0.00001
NM_018979.4(WNK1):c.5584-5A>G rs771801197 0.00001
NM_018979.4(WNK1):c.5697T>C (p.Ser1899=) rs778453551 0.00001
NM_018979.4(WNK1):c.5818C>T (p.Pro1940Ser) rs1416374405 0.00001
NM_018979.4(WNK1):c.595C>G (p.Gln199Glu) rs1404174344 0.00001
NM_018979.4(WNK1):c.6096G>A (p.Ser2032=) rs768679171 0.00001
NM_018979.4(WNK1):c.6110G>A (p.Ser2037Asn) rs1273114507 0.00001
NM_018979.4(WNK1):c.6670G>T (p.Ala2224Ser) rs763836773 0.00001
NM_018979.4(WNK1):c.6797G>T (p.Gly2266Val) rs770327670 0.00001
NM_018979.4(WNK1):c.6986C>T (p.Pro2329Leu) rs781574573 0.00001
NM_018979.4(WNK1):c.7058C>A (p.Pro2353His) rs375566748 0.00001
NM_018979.4(WNK1):c.7092del (p.Ser2365fs) rs1565626117 0.00001
NM_018979.4(WNK1):c.94G>T (p.Asp32Tyr) rs1364175663 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.126C>T (p.Asp42=) rs1203067807 0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.142C>T rs1051082443 0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr) rs1314923558 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr) rs755325843 0.00001
NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu) rs745845092 0.00001
NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=) rs771866622 0.00001
NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile) rs763461427 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro) rs554013810 0.00001
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val) rs781203780 0.00001
NM_020297.4(ABCC9):c.1012-2A>G rs1345994016 0.00001
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val) rs567016348 0.00001
NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe) rs755542764 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=) rs746467455 0.00001
NM_020297.4(ABCC9):c.1743G>A (p.Leu581=) rs777049470 0.00001
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253 0.00001
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) rs201223488 0.00001
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp) rs922212635 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val) rs1162169303 0.00001
NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn) rs1359649036 0.00001
NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg) rs758894784 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020320.5(RARS2):c.1415+2T>C rs772989345 0.00001
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) rs371367255 0.00001
NM_020320.5(RARS2):c.297+2T>G rs574343583 0.00001
NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) rs774285913 0.00001
NM_020347.4(LZTFL1):c.384+12G>T rs538612017 0.00001
NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg) rs777788515 0.00001
NM_020347.4(LZTFL1):c.766A>G (p.Met256Val) rs768813044 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020376.4(PNPLA2):c.1175+3G>A rs372368030 0.00001
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=) rs371893260 0.00001
NM_020381.4(PDSS2):c.488G>A (p.Arg163His) rs142617068 0.00001
NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser) rs201218141 0.00001
NM_020433.5(JPH2):c.*15A>T rs561604738 0.00001
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00001
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg) rs1457124939 0.00001
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser) rs745760392 0.00001
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu) rs1026714361 0.00001
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr) rs886039086 0.00001
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala) rs764474492 0.00001
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys) rs747893109 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.515A>G (p.Asn172Ser) rs1170915460 0.00001
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser) rs976272461 0.00001
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 0.00001
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser) rs373731005 0.00001
NM_020436.5(SALL4):c.1005T>C (p.Leu335=) rs150350828 0.00001
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) rs1010416849 0.00001
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) rs769115027 0.00001
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) rs780276827 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp) rs138592761 0.00001
NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys) rs1282749907 0.00001
NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro) rs750475050 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.405+1G>A rs148748724 0.00001
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) rs781745214 0.00001
NM_020632.3(ATP6V0A4):c.1029+4C>A rs745448000 0.00001
NM_020632.3(ATP6V0A4):c.118-10G>A rs191616896 0.00001
NM_020632.3(ATP6V0A4):c.1291C>T (p.Arg431Cys) rs370116072 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.2257+1G>A rs145809731 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter) rs1384393001 0.00001
NM_020638.3(FGF23):c.51C>T (p.Cys17=) rs752187740 0.00001
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020774.4(MIB1):c.228C>G (p.Thr76=) rs757518044 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020822.3(KCNT1):c.1664G>A (p.Arg555His) rs764477306 0.00001
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020928.2(ZSWIM6):c.1781A>G (p.Asn594Ser) rs1257102056 0.00001
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) rs762845761 0.00001
NM_020937.4(FANCM):c.1184-20C>A rs763504552 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491 0.00001
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587 0.00001
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) rs367951081 0.00001
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) rs201076487 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) rs757274359 0.00001
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) rs1015238529 0.00001
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) rs763357840 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) rs765227168 0.00001
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) rs764033302 0.00001
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) rs529256568 0.00001
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) rs756870111 0.00001
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) rs769468991 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) rs766902093 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) rs184770388 0.00001
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) rs776256629 0.00001
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) rs1594798166 0.00001
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) rs775175323 0.00001
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) rs751314954 0.00001
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) rs376798467 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) rs867324948 0.00001
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) rs201839320 0.00001
NM_020937.4(FANCM):c.366C>G (p.Ala122=) rs770311755 0.00001
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) rs188061266 0.00001
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) rs749696321 0.00001
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=) rs764040527 0.00001
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) rs751795256 0.00001
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) rs748823532 0.00001
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893 0.00001
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) rs376581960 0.00001
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) rs534229547 0.00001
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) rs774380823 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) rs377410891 0.00001
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) rs781618421 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) rs112745068 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) rs752053357 0.00001
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) rs759165724 0.00001
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) rs1195945183 0.00001
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) rs200095329 0.00001
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) rs374303319 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.809G>A (p.Arg270His) rs759079934 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=) rs199942498 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020975.6(RET):c.1051G>A (p.Val351Ile) rs777716061 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) rs1394361948 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1263+19C>T rs371417381 0.00001
NM_020975.6(RET):c.138C>T (p.Ala46=) rs1177522214 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1649-7T>C rs758817204 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1811C>T (p.Ala604Val) rs1286776938 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.199C>T (p.Arg67Cys) rs749390385 0.00001
NM_020975.6(RET):c.2005A>G (p.Ile669Val) rs776986585 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_020975.6(RET):c.2078G>A (p.Arg693His) rs1332256523 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) rs1356141763 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) rs147216744 0.00001
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) rs768217520 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) rs1323183090 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.236G>A (p.Arg79Gln) rs1318325737 0.00001
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) rs761130672 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2679C>T (p.Phe893=) rs768188546 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.2996C>T (p.Ala999Val) rs748288493 0.00001
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) rs1438192223 0.00001
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) rs867206631 0.00001
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) rs1305293392 0.00001
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) rs569004816 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) rs370756353 0.00001
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) rs138010639 0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) rs144730090 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.350C>A (p.Pro117His) rs763295929 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_020975.6(RET):c.517T>C (p.Ser173Pro) rs864622361 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.59C>A (p.Pro20Gln) rs1837067697 0.00001
NM_020975.6(RET):c.602G>C (p.Ser201Thr) rs898525501 0.00001
NM_020975.6(RET):c.625+11A>G rs778239396 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020975.6(RET):c.677G>C (p.Arg226Pro) rs937818626 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_020975.6(RET):c.750C>T (p.Arg250=) rs1013952995 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.890G>A (p.Arg297His) rs1480040525 0.00001
NM_020999.4(NEUROG3):c.392A>G (p.Tyr131Cys) rs758978508 0.00001
NM_020999.4(NEUROG3):c.585G>A (p.Leu195=) rs781384262 0.00001
NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser) rs771661969 0.00001
NM_021008.4(DEAF1):c.80C>T (p.Ala27Val) rs1400909690 0.00001
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=) rs753868121 0.00001
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953 0.00001
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr) rs902030420 0.00001
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=) rs1259091648 0.00001
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr) rs544916201 0.00001
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val) rs747987613 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln) rs757946905 0.00001
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu) rs540638287 0.00001
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met) rs1473122688 0.00001
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=) rs761519926 0.00001
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=) rs777762276 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=) rs745614463 0.00001
NM_021098.3(CACNA1H):c.2452-12C>T rs762240161 0.00001
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys) rs1446439397 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr) rs1012165881 0.00001
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=) rs960703593 0.00001
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met) rs1489760070 0.00001
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met) rs376957651 0.00001
NM_021098.3(CACNA1H):c.3064-15C>T rs371897810 0.00001
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=) rs575176246 0.00001
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys) rs970648879 0.00001
NM_021098.3(CACNA1H):c.312C>T (p.His104=) rs370735613 0.00001
NM_021098.3(CACNA1H):c.3154+5G>A rs764360814 0.00001
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val) rs1238128692 0.00001
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr) rs373102061 0.00001
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His) rs764071122 0.00001
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg) rs1431381776 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=) rs1244188050 0.00001
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) rs766406727 0.00001
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val) rs778186545 0.00001
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys) rs761063520 0.00001
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp) rs1399681066 0.00001
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln) rs201931839 0.00001
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852 0.00001
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=) rs200922359 0.00001
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn) rs768716174 0.00001
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419 0.00001
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) rs200353061 0.00001
NM_021098.3(CACNA1H):c.4038+6G>A rs112068805 0.00001
NM_021098.3(CACNA1H):c.4038+8G>A rs555282047 0.00001
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser) rs747715176 0.00001
NM_021098.3(CACNA1H):c.4350+6T>C rs367545564 0.00001
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His) rs750626623 0.00001
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu) rs536269517 0.00001
NM_021098.3(CACNA1H):c.4566+4C>T rs199968897 0.00001
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln) rs1343159534 0.00001
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys) rs777159526 0.00001
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His) rs761945003 0.00001
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile) rs1015123563 0.00001
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr) rs577258290 0.00001
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196 0.00001
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=) rs776954477 0.00001
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met) rs754276994 0.00001
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=) rs779699766 0.00001
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys) rs545768453 0.00001
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys) rs767277197 0.00001
NM_021098.3(CACNA1H):c.545+10G>T rs748867788 0.00001
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=) rs758391189 0.00001
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg) rs1970204449 0.00001
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val) rs139080716 0.00001
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met) rs754166849 0.00001
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu) rs769441475 0.00001
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu) rs921830082 0.00001
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=) rs896695448 0.00001
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His) rs1312406661 0.00001
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140 0.00001
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val) rs1387716276 0.00001
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760 0.00001
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr) rs570207081 0.00001
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile) rs756344458 0.00001
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val) rs778892614 0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) rs1025586071 0.00001
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln) rs776993441 0.00001
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=) rs759684037 0.00001
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=) rs113962757 0.00001
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser) rs746807446 0.00001
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys) rs1456584884 0.00001
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr) rs1264293762 0.00001
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp) rs764354954 0.00001
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg) rs899655295 0.00001
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610 0.00001
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=) rs1176114621 0.00001
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile) rs750732485 0.00001
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu) rs766207096 0.00001
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg) rs753077813 0.00001
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val) rs1418372954 0.00001
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser) rs751311855 0.00001
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=) rs747311145 0.00001
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=) rs761655532 0.00001
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys) rs773167797 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) rs749305814 0.00001
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=) rs57740463 0.00001
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys) rs758039020 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_021828.5(HPSE2):c.1099-1G>A rs184270108 0.00001
NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser) rs577966759 0.00001
NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln) rs376543806 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1309A>G (p.Met437Val) rs746770705 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser) rs890865684 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys) rs866005940 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp) rs764017469 0.00001
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu) rs370659315 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) rs886061329 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_022041.4(GAN):c.602G>A (p.Arg201Gln) rs967957134 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022042.4(SLC26A1):c.1232G>A (p.Arg411Gln) rs758753898 0.00001
NM_022042.4(SLC26A1):c.1506C>T (p.Ala502=) rs753883088 0.00001
NM_022042.4(SLC26A1):c.1813G>A (p.Ala605Thr) rs756245768 0.00001
NM_022042.4(SLC26A1):c.639T>C (p.Asp213=) rs369163740 0.00001
NM_022042.4(SLC26A1):c.774G>C (p.Gln258His) rs745511682 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn) rs1017989325 0.00001
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs) rs751910922 0.00001
NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr) rs763268700 0.00001
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=) rs762491643 0.00001
NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr) rs1482371535 0.00001
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg) rs947863770 0.00001
NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile) rs778899500 0.00001
NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser) rs752636134 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022454.4(SOX17):c.654G>A (p.Pro218=) rs770677973 0.00001
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) rs1215568879 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) rs530934556 0.00001
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) rs766184697 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) rs1251583221 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) rs746925986 0.00001
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=) rs1581507735 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093 0.00001
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) rs1388409083 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1299C>T (p.Ser433=) rs1431857911 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2103C>T (p.Ala701=) rs369998116 0.00001
NM_022489.4(INF2):c.2553G>A (p.Glu851=) rs368901958 0.00001
NM_022489.4(INF2):c.2775+12C>T rs200236783 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.3054C>T (p.Asn1018=) rs983208436 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=) rs771664996 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.489C>T (p.Asp163=) rs769080446 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro) rs1159900858 0.00001
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro) rs373385251 0.00001
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly) rs1216924776 0.00001
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser) rs1231820160 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
NM_022725.4(FANCF):c.705A>C (p.Gln235His) rs768107677 0.00001
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg) rs374063561 0.00001
NM_022725.4(FANCF):c.936A>T (p.Gln312His) rs371631248 0.00001
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter) rs1557770517 0.00001
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter) rs756868374 0.00001
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter) rs780116486 0.00001
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) rs763193003 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1578A>G (p.Gln526=) rs479612 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) rs531254130 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.959G>A (p.Arg320His) rs1465811690 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024407.5(NDUFS7):c.54-19G>A rs562814009 0.00001
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala) rs782132637 0.00001
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg) rs1403687128 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) rs764669567 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) rs766624616 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) rs1312909126 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) rs1987521149 0.00001
NM_024426.6(WT1):c.115C>A (p.Arg39=) rs763147828 0.00001
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.27G>A (p.Pro9=) rs556835183 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.945C>T (p.Asn315=) rs775085343 0.00001
NM_024514.5(CYP2R1):c.1001-5G>C rs782338771 0.00001
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) rs147626987 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1559+20A>G rs1281829953 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.370+17A>G rs760583012 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.730-14C>G rs183077646 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) rs772065497 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024642.5(GALNT12):c.609C>A (p.Asn203Lys) rs370024536 0.00001
NM_024642.5(GALNT12):c.758T>C (p.Val253Ala) rs1316883841 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) rs745375133 0.00001
NM_024649.5(BBS1):c.1111-2A>G rs761969357 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) rs767247916 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) rs772427832 0.00001
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) rs377469172 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.1554G>T (p.Leu518=) rs760568652 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) rs767385250 0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=) rs1336755113 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) rs1368294392 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) rs544315396 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys) rs1348407391 0.00001
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro) rs1358484245 0.00001
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) rs371875379 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) rs148102335 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) rs765898856 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) rs768482110 0.00001
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) rs786203176 0.00001
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr) rs370468259 0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) rs746582620 0.00001
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) rs587780207 0.00001
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) rs730881885 0.00001
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) rs761478794 0.00001
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys) rs780397699 0.00001
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) rs759024828 0.00001
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) rs765942523 0.00001
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) rs879254051 0.00001
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) rs786203296 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe) rs149836639 0.00001
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) rs774502617 0.00001
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) rs750650768 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) rs778602038 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) rs786204248 0.00001
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) rs1418709183 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) rs764669864 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) rs202222149 0.00001
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) rs864622193 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe) rs786203462 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 0.00001
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) rs863224788 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln) rs864622280 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) rs786203040 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) rs515726127 0.00001
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) rs200843485 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter) rs1555202657 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) rs1453771610 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024685.4(BBS10):c.85G>T (p.Val29Leu) rs752267054 0.00001
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) rs759385121 0.00001
NM_024740.2(ALG9):c.1149C>T (p.Gly383=) rs1057521573 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152 0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.3838G>C (p.Glu1280Gln) rs1215972773 0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) rs1308431693 0.00001
NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) rs756563868 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_024884.3(L2HGDH):c.69C>G (p.Ser23=) rs757365260 0.00001
NM_024928.5(STN1):c.398G>A (p.Arg133Gln) rs373606965 0.00001
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) rs758591202 0.00001
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr) rs748159035 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys) rs755221317 0.00001
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu) rs368792355 0.00001
NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln) rs369973948 0.00001
NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys) rs370349229 0.00001
NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly) rs781560608 0.00001
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=) rs769192947 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys) rs746130442 0.00001
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln) rs566595838 0.00001
NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe) rs762464811 0.00001
NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr) rs767095340 0.00001
NM_025074.7(FRAS1):c.7030-3C>G rs1254762800 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln) rs865839705 0.00001
NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys) rs1719826004 0.00001
NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp) rs367972398 0.00001
NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg) rs771808832 0.00001
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) rs377137481 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025114.4(CEP290):c.102+13T>C rs773325354 0.00001
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser) rs891165640 0.00001
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) rs781183605 0.00001
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu) rs376808205 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn) rs750163383 0.00001
NM_025114.4(CEP290):c.1623+2C>A rs2039218006 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1711+6C>T rs1285486059 0.00001
NM_025114.4(CEP290):c.1712-9T>C rs1412442444 0.00001
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu) rs770829686 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.1977G>A (p.Lys659=) rs1313927656 0.00001
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile) rs769216455 0.00001
NM_025114.4(CEP290):c.2448T>C (p.Arg816=) rs371851348 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile) rs1000757966 0.00001
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser) rs967541984 0.00001
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp) rs1265448566 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser) rs1276779845 0.00001
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu) rs760934388 0.00001
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys) rs778508890 0.00001
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp) rs759961956 0.00001
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=) rs747972826 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly) rs1342978055 0.00001
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys) rs547677441 0.00001
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712 0.00001
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu) rs765521933 0.00001
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022 0.00001
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr) rs1460182061 0.00001
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val) rs923112337 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.4177A>G (p.Ile1393Val) rs2036709987 0.00001
NM_025114.4(CEP290):c.4302+5G>A rs1013125589 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn) rs769732992 0.00001
NM_025114.4(CEP290):c.441+14T>G rs765642954 0.00001
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672 0.00001
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val) rs751408783 0.00001
NM_025114.4(CEP290):c.4736A>T (p.Glu1579Val) rs760059883 0.00001
NM_025114.4(CEP290):c.4812+6A>T rs769525877 0.00001
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser) rs767636506 0.00001
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.521A>T (p.Glu174Val) rs774484028 0.00001
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg) rs773591434 0.00001
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn) rs763278328 0.00001
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala) rs1354836663 0.00001
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=) rs766355219 0.00001
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly) rs756608200 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=) rs1175295227 0.00001
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile) rs753687613 0.00001
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=) rs374183249 0.00001
NM_025114.4(CEP290):c.6270+19A>G rs1181927624 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser) rs777841957 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=) rs755447230 0.00001
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr) rs1212611161 0.00001
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser) rs148173636 0.00001
NM_025114.4(CEP290):c.7130-16A>G rs1430895394 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) rs907386068 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) rs776807695 0.00001
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser) rs778603443 0.00001
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser) rs765755554 0.00001
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) rs527757515 0.00001
NM_030665.4(RAI1):c.454C>A (p.Pro152Thr) rs755899326 0.00001
NM_030665.4(RAI1):c.4911G>A (p.Ser1637=) rs756222196 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_030667.3(PTPRO):c.1776C>T (p.Ser592=) rs369419924 0.00001
NM_030667.3(PTPRO):c.497T>C (p.Met166Thr) rs376857700 0.00001
NM_030761.5(WNT4):c.739C>T (p.Arg247Cys) rs140080433 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) rs117053591 0.00001
NM_031844.3(HNRNPU):c.553G>A (p.Gly185Arg) rs780326561 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) rs779677560 0.00001
NM_031885.5(BBS2):c.117+17G>T rs201119943 0.00001
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) rs368138622 0.00001
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) rs772380071 0.00001
NM_031885.5(BBS2):c.1530T>G (p.Val510=) rs545597883 0.00001
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val) rs374028829 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr) rs771822557 0.00001
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter) rs1597001788 0.00001
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) rs1003841433 0.00001
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu) rs772864503 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.612+14C>G rs770986334 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_031885.5(BBS2):c.810T>C (p.Asp270=) rs1309546092 0.00001
NM_031885.5(BBS2):c.941-20G>A rs760109919 0.00001
NM_031885.5(BBS2):c.986T>C (p.Met329Thr) rs201146063 0.00001
NM_032040.5(CCDC8):c.1094A>C (p.Asp365Ala) rs141966158 0.00001
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His) rs587781325 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu) rs761639530 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn) rs786204230 0.00001
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.752G>A (p.Arg251His) rs780834054 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_032119.4(ADGRV1):c.10466G>A (p.Gly3489Glu) rs780372483 0.00001
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly) rs771934458 0.00001
NM_032119.4(ADGRV1):c.12184C>T (p.Arg4062Trp) rs775426944 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.14546C>G (p.Thr4849Ser) rs755079950 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.3931A>G (p.Thr1311Ala) rs776663458 0.00001
NM_032119.4(ADGRV1):c.6705T>G (p.Phe2235Leu) rs777260815 0.00001
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser) rs373807911 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032229.3(SLITRK6):c.1112C>T (p.Ala371Val) rs748560091 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_032387.5(WNK4):c.1339G>A (p.Asp447Asn) rs566923583 0.00001
NM_032387.5(WNK4):c.14C>T (p.Pro5Leu) rs577125376 0.00001
NM_032387.5(WNK4):c.3523A>G (p.Ile1175Val) rs761259011 0.00001
NM_032387.5(WNK4):c.643C>T (p.Arg215Trp) rs758123242 0.00001
NM_032409.3(PINK1):c.1123+4G>C rs760845466 0.00001
NM_032409.3(PINK1):c.1251+5G>A rs756873744 0.00001
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) rs531477772 0.00001
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) rs1274588239 0.00001
NM_032409.3(PINK1):c.388-10C>G rs763983499 0.00001
NM_032415.7(CARD11):c.2063G>A (p.Arg688Gln) rs764342695 0.00001
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr) rs1247465227 0.00001
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg) rs188729744 0.00001
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys) rs199774640 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp) rs532023958 0.00001
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu) rs763337738 0.00001
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser) rs200337039 0.00001
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe) rs1326014010 0.00001
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn) rs773395054 0.00001
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro) rs781416857 0.00001
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser) rs2040658116 0.00001
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly) rs953252183 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541 0.00001
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile) rs2040629635 0.00001
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe) rs768477511 0.00001
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys) rs753926402 0.00001
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala) rs1567171612 0.00001
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val) rs747563780 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser) rs373595621 0.00001
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys) rs546657275 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser) rs200319106 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln) rs777514343 0.00001
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly) rs1047744954 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys) rs200708159 0.00001
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe) rs368695839 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg) rs760493361 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His) rs775711964 0.00001
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser) rs779426291 0.00001
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly) rs1252550783 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517 0.00001
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg) rs776760390 0.00001
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln) rs756660911 0.00001
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651 0.00001
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu) rs148228302 0.00001
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala) rs1480904013 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser) rs145557355 0.00001
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn) rs754498907 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg) rs200262630 0.00001
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His) rs1555449297 0.00001
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr) rs772332386 0.00001
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg) rs746191123 0.00001
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp) rs375100050 0.00001
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln) rs575953567 0.00001
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro) rs754917250 0.00001
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr) rs755289589 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu) rs760336082 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032578.4(MYPN):c.1306G>A (p.Val436Met) rs1172083148 0.00001
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg) rs770366905 0.00001
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe) rs749716693 0.00001
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp) rs935247269 0.00001
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly) rs767800921 0.00001
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys) rs794729072 0.00001
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr) rs1386715407 0.00001
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp) rs529221329 0.00001
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr) rs200432306 0.00001
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln) rs771428473 0.00001
NM_032578.4(MYPN):c.2704-13G>A rs1381527530 0.00001
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr) rs763043084 0.00001
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu) rs1477487826 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn) rs769591145 0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val) rs758026056 0.00001
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro) rs374007615 0.00001
NM_032578.4(MYPN):c.3159-19A>C rs754950593 0.00001
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg) rs900098416 0.00001
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His) rs763362861 0.00001
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser) rs748574829 0.00001
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg) rs752302519 0.00001
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg) rs763805681 0.00001
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly) rs2043722325 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu) rs781048271 0.00001
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr) rs755212697 0.00001
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys) rs1265232754 0.00001
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys) rs1299051222 0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser) rs772348422 0.00001
NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu) rs371657025 0.00001
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) rs774734630 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032856.5(WDR73):c.816T>C (p.Pro272=) rs374742538 0.00001
NM_032901.4(COX14):c.160T>C (p.Ser54Pro) rs778925220 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_033026.6(PCLO):c.4595G>A (p.Ser1532Asn) rs557658951 0.00001
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val) rs1419955498 0.00001
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro) rs569462424 0.00001
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp) rs914591602 0.00001
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro) rs749034070 0.00001
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr) rs530223854 0.00001
NM_033028.5(BBS4):c.408G>A (p.Glu136=) rs201881253 0.00001
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln) rs775955872 0.00001
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala) rs569388336 0.00001
NM_033028.5(BBS4):c.760G>A (p.Val254Ile) rs532770420 0.00001
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu) rs748048479 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys) rs199831925 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His) rs770590365 0.00001
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) rs786205283 0.00001
NM_033118.4(MYLK2):c.1645C>T (p.Arg549Cys) rs540151040 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.6096-3C>A rs753054165 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) rs1060502317 0.00001
NM_033337.3(CAV3):c.221G>A (p.Arg74His) rs201893621 0.00001
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser) rs137881434 0.00001
NM_033337.3(CAV3):c.310G>A (p.Val104Met) rs944503745 0.00001
NM_033337.3(CAV3):c.310G>C (p.Val104Leu) rs944503745 0.00001
NM_033337.3(CAV3):c.60G>A (p.Lys20=) rs972788554 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.1423+10C>T rs1161395968 0.00001
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys) rs757877136 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.2516A>G (p.His839Arg) rs1272041306 0.00001
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=) rs1258505968 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) rs748877857 0.00001
NM_052813.5(CARD9):c.745G>A (p.Glu249Lys) rs773804555 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_052813.5(CARD9):c.998G>A (p.Arg333His) rs200783121 0.00001
NM_052859.4(RFT1):c.63G>A (p.Gln21=) rs139372284 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_053025.4(MYLK):c.1110G>A (p.Glu370=) rs886038986 0.00001
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys) rs766381045 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) rs1002989047 0.00001
NM_053025.4(MYLK):c.1618A>T (p.Thr540Ser) rs927903236 0.00001
NM_053025.4(MYLK):c.161G>A (p.Gly54Glu) rs767453947 0.00001
NM_053025.4(MYLK):c.1839G>T (p.Leu613=) rs771131171 0.00001
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112 0.00001
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) rs779602599 0.00001
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser) rs554791878 0.00001
NM_053025.4(MYLK):c.2386C>G (p.Leu796Val) rs1229779040 0.00001
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820 0.00001
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) rs1477764878 0.00001
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) rs372019566 0.00001
NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg) rs1131691270 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) rs1285946380 0.00001
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp) rs762375833 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.2940T>G (p.Asp980Glu) rs879643674 0.00001
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110 0.00001
NM_053025.4(MYLK):c.301del (p.Arg101fs) rs1280842278 0.00001
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) rs568590920 0.00001
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) rs748997552 0.00001
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys) rs2063223394 0.00001
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys) rs867887039 0.00001
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe) rs777876067 0.00001
NM_053025.4(MYLK):c.3682C>G (p.Pro1228Ala) rs766218230 0.00001
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu) rs774553050 0.00001
NM_053025.4(MYLK):c.376A>G (p.Ser126Gly) rs754859097 0.00001
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740 0.00001
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) rs141271656 0.00001
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys) rs2059418764 0.00001
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His) rs745547260 0.00001
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys) rs761390691 0.00001
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln) rs1397757032 0.00001
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=) rs778762375 0.00001
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) rs746213310 0.00001
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys) rs369511530 0.00001
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn) rs746327636 0.00001
NM_053025.4(MYLK):c.5675C>T (p.Thr1892Ile) rs368231398 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057176.3(BSND):c.183C>T (p.Thr61=) rs377452238 0.00001
NM_057176.3(BSND):c.288G>A (p.Pro96=) rs752911029 0.00001
NM_057176.3(BSND):c.501C>T (p.Gly167=) rs1463073048 0.00001
NM_057176.3(BSND):c.670C>A (p.Pro224Thr) rs1465563174 0.00001
NM_057176.3(BSND):c.737C>T (p.Ala246Val) rs926142735 0.00001
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp) rs587782449 0.00001
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val) rs730881928 0.00001
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu) rs775224480 0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) rs112832782 0.00001
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg) rs730881936 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu) rs587780254 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly) rs776904180 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr) rs756727559 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys) rs137947462 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val) rs199886026 0.00001
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu) rs2048495457 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_058216.3(RAD51C):c.966-8T>G rs1181139153 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_080911.3(UNG):c.371A>G (p.His124Arg) rs1035623046 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) rs368318081 0.00001
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=) rs528212894 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile) rs139322919 0.00001
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu) rs200512885 0.00001
NM_133379.5(TTN):c.14139C>T (p.Asp4713=) rs371388583 0.00001
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter) rs397517821 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.700+2T>G rs990830655 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=) rs375770253 0.00001
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=) rs562160590 0.00001
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637 0.00001
NM_138694.4(PKHD1):c.10583A>G (p.Asn3528Ser) rs886061612 0.00001
NM_138694.4(PKHD1):c.11000G>C (p.Gly3667Ala) rs201692162 0.00001
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=) rs758082610 0.00001
NM_138694.4(PKHD1):c.11210A>G (p.Tyr3737Cys) rs1206336265 0.00001
NM_138694.4(PKHD1):c.11279T>G (p.Val3760Gly) rs886061610 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys) rs531466080 0.00001
NM_138694.4(PKHD1):c.12163G>A (p.Gly4055Arg) rs778545068 0.00001
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=) rs757125119 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.1917A>T (p.Val639=) rs1192699542 0.00001
NM_138694.4(PKHD1):c.193G>A (p.Val65Met) rs749853418 0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val) rs376987651 0.00001
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=) rs769144028 0.00001
NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met) rs377415956 0.00001
NM_138694.4(PKHD1):c.210C>T (p.Pro70=) rs372103359 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2280-4A>T rs549804372 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val) rs546401927 0.00001
NM_138694.4(PKHD1):c.2593-10A>G rs1050450962 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2906C>T (p.Thr969Met) rs530600526 0.00001
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln) rs899785229 0.00001
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val) rs727504088 0.00001
NM_138694.4(PKHD1):c.3229-7T>G rs780401384 0.00001
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780 0.00001
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443 0.00001
NM_138694.4(PKHD1):c.371G>A (p.Arg124Gln) rs764940559 0.00001
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=) rs150985194 0.00001
NM_138694.4(PKHD1):c.3779C>T (p.Ala1260Val) rs112182862 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg) rs759930967 0.00001
NM_138694.4(PKHD1):c.4277C>T (p.Ser1426Leu) rs771702541 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439 0.00001
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser) rs746705122 0.00001
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=) rs556583531 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=) rs1241103975 0.00001
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=) rs1355951747 0.00001
NM_138694.4(PKHD1):c.56G>A (p.Arg19His) rs1375765328 0.00001
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter) rs1313206550 0.00001
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=) rs1167596697 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6143T>C (p.Val2048Ala) rs1283289447 0.00001
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958 0.00001
NM_138694.4(PKHD1):c.657C>T (p.Gly219=) rs189345248 0.00001
NM_138694.4(PKHD1):c.6634G>A (p.Ala2212Thr) rs1376315113 0.00001
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=) rs1315333212 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7090A>G (p.Ile2364Val) rs748865599 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met) rs201173272 0.00001
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly) rs747117144 0.00001
NM_138694.4(PKHD1):c.7438A>T (p.Ile2480Phe) rs202008567 0.00001
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=) rs746499996 0.00001
NM_138694.4(PKHD1):c.7976C>T (p.Pro2659Leu) rs776654447 0.00001
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln) rs778592523 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8080A>G (p.Ser2694Gly) rs775472136 0.00001
NM_138694.4(PKHD1):c.8084A>G (p.Gln2695Arg) rs1185197350 0.00001
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp) rs754533251 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=) rs756431455 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8382C>G (p.Asp2794Glu) rs746096431 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs) rs779168950 0.00001
NM_138694.4(PKHD1):c.875T>C (p.Ile292Thr) rs193185189 0.00001
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=) rs1418482955 0.00001
NM_138694.4(PKHD1):c.8830A>G (p.Ile2944Val) rs773010322 0.00001
NM_138694.4(PKHD1):c.9106G>T (p.Val3036Leu) rs141912421 0.00001
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=) rs764734730 0.00001
NM_138694.4(PKHD1):c.9270C>A (p.Asn3090Lys) rs769571577 0.00001
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138704.4(NSMCE3):c.577A>G (p.Ile193Val) rs1331055673 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_139027.6(ADAMTS13):c.3400+93C>T rs587664518 0.00001
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu) rs794729083 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1413A>G (p.Arg471=) rs780858511 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs) rs779350415 0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) rs756709134 0.00001
NM_144573.4(NEXN):c.328G>C (p.Glu110Gln) rs754671609 0.00001
NM_144573.4(NEXN):c.364G>C (p.Glu122Gln) rs748518328 0.00001
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys) rs536537549 0.00001
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly) rs570946423 0.00001
NM_144573.4(NEXN):c.671G>A (p.Cys224Tyr) rs886046534 0.00001
NM_144573.4(NEXN):c.688-1G>C rs761030548 0.00001
NM_144573.4(NEXN):c.772A>G (p.Arg258Gly) rs1308264799 0.00001
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu) rs767740199 0.00001
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys) rs765051104 0.00001
NM_144585.4(SLC22A12):c.334G>A (p.Asp112Asn) rs772733867 0.00001
NM_144585.4(SLC22A12):c.880T>G (p.Trp294Gly) rs183246258 0.00001
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr) rs1003053014 0.00001
NM_144596.4(TTC8):c.114+12C>A rs372634452 0.00001
NM_144596.4(TTC8):c.1215T>G (p.His405Gln) rs753212470 0.00001
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys) rs773278542 0.00001
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr) rs148602884 0.00001
NM_144596.4(TTC8):c.145-10T>C rs754997963 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu) rs200447138 0.00001
NM_144773.4(PROKR2):c.208G>A (p.Gly70Ser) rs764674615 0.00001
NM_144773.4(PROKR2):c.663G>A (p.Lys221=) rs1051636587 0.00001
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu) rs1313891453 0.00001
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=) rs561236067 0.00001
NM_144997.7(FLCN):c.1301-8T>C rs571192457 0.00001
NM_144997.7(FLCN):c.1315G>A (p.Val439Met) rs112980409 0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1539-11G>C rs368472222 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.1709G>A (p.Arg570His) rs201056799 0.00001
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys) rs778275358 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu) rs773648142 0.00001
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr) rs746556970 0.00001
NM_144997.7(FLCN):c.251G>T (p.Gly84Val) rs1386417463 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu) rs1040675580 0.00001
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys) rs765251703 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln) rs756807584 0.00001
NM_144997.7(FLCN):c.619-8C>T rs1274815686 0.00001
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr) rs370074267 0.00001
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys) rs371401039 0.00001
NM_144997.7(FLCN):c.748C>A (p.Leu250Met) rs898441209 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.780-13C>T rs777670469 0.00001
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) rs748031634 0.00001
NM_144997.7(FLCN):c.981A>G (p.Ala327=) rs763078516 0.00001
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) rs770027312 0.00001
NM_145045.5(ODAD3):c.1361G>A (p.Arg454His) rs747718544 0.00001
NM_145207.3(AFG2A):c.229T>G (p.Ser77Ala) rs755797663 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu) rs867064302 0.00001
NM_148960.3(CLDN19):c.350G>A (p.Arg117His) rs377319583 0.00001
NM_148960.3(CLDN19):c.622C>T (p.Arg208Ter) rs1011136678 0.00001
NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr) rs535667246 0.00001
NM_148960.3(CLDN19):c.671T>A (p.Val224Glu) rs387907420 0.00001
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) rs553635114 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_152383.5(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437 0.00001
NM_152383.5(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365 0.00001
NM_152383.5(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146 0.00001
NM_152383.5(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733 0.00001
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.259-3C>T rs564412855 0.00001
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) rs758307712 0.00001
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) rs375992092 0.00001
NM_152384.3(BBS5):c.60-10T>G rs1224093899 0.00001
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) rs759233586 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) rs1395749164 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr) rs759972908 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209 0.00001
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) rs771021187 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser) rs1326406012 0.00001
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu) rs1824580005 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) rs765664729 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter) rs148275050 0.00001
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val) rs775189952 0.00001
NM_152618.3(BBS12):c.1658T>A (p.Leu553His) rs753004315 0.00001
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala) rs771057055 0.00001
NM_152618.3(BBS12):c.1884C>T (p.Asp628=) rs1463043869 0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr) rs748009027 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.382G>A (p.Val128Ile) rs375439566 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.508A>G (p.Ile170Val) rs1218692709 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp) rs768471108 0.00001
NM_153240.5(NPHP3):c.1149T>G (p.Phe383Leu) rs747256150 0.00001
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu) rs753467164 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.1411A>G (p.Ile471Val) rs200659972 0.00001
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val) rs763420553 0.00001
NM_153240.5(NPHP3):c.1471A>T (p.Met491Leu) rs756807243 0.00001
NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) rs375225209 0.00001
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly) rs538317431 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met) rs780013712 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg) rs1217928367 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu) rs772613405 0.00001
NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu) rs777858346 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.237G>A (p.Ser79=) rs555921512 0.00001
NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) rs747876996 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3237G>C (p.Gln1079His) rs764287266 0.00001
NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala) rs371290162 0.00001
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) rs1157229330 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg) rs200287294 0.00001
NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys) rs1188632308 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153240.5(NPHP3):c.3499C>T (p.Arg1167Cys) rs201135796 0.00001
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=) rs761585621 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met) rs150019603 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.590T>G (p.Leu197Arg) rs757401076 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) rs775337662 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) rs75288730 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter) rs746509804 0.00001
NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val) rs141966811 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile) rs587777892 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1280G>A (p.Arg427His) rs747139279 0.00001
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly) rs1651628416 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr) rs748433620 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr) rs267607642 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys) rs578193315 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser) rs951584348 0.00001
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly) rs1441670218 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 0.00001
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp) rs370200334 0.00001
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) rs267607626 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609 0.00001
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln) rs752551225 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172201.2(KCNE2):c.144dup (p.Val49fs) rs751276927 0.00001
NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) rs776661633 0.00001
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) rs1434304789 0.00001
NM_172201.2(KCNE2):c.2T>C (p.Met1Thr) rs867658122 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe) rs763356514 0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) rs759246710 0.00001
NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser) rs770883667 0.00001
NM_173551.5(ANKS6):c.2487G>A (p.Ala829=) rs758679399 0.00001
NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala) rs1057523009 0.00001
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) rs374511363 0.00001
NM_173551.5(ANKS6):c.690G>A (p.Met230Ile) rs201704559 0.00001
NM_173551.5(ANKS6):c.904A>G (p.Met302Val) rs780949680 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr) rs1202378531 0.00001
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg) rs904836940 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726 0.00001
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) rs756210130 0.00001
NM_174934.4(SCN4B):c.21A>G (p.Gly7=) rs1332884912 0.00001
NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) rs946169910 0.00001
NM_174934.4(SCN4B):c.454G>A (p.Val152Ile) rs778247172 0.00001
NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys) rs371609756 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val) rs376066497 0.00001
NM_174936.4(PCSK9):c.1301G>A (p.Arg434Gln) rs1416309628 0.00001
NM_174936.4(PCSK9):c.1422C>T (p.Val474=) rs373517174 0.00001
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr) rs773699134 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.1690T>G (p.Ser564Ala) rs1263043577 0.00001
NM_174936.4(PCSK9):c.1945G>A (p.Ala649Thr) rs371744393 0.00001
NM_174936.4(PCSK9):c.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_174936.4(PCSK9):c.2014G>A (p.Val672Met) rs892210400 0.00001
NM_174936.4(PCSK9):c.2023del (p.Val675fs) rs772102827 0.00001
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr) rs968023760 0.00001
NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp) rs781466793 0.00001
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp) rs200505188 0.00001
NM_174936.4(PCSK9):c.533G>A (p.Ser178Asn) rs755818478 0.00001
NM_174936.4(PCSK9):c.724G>A (p.Ala242Thr) rs1238510123 0.00001
NM_174936.4(PCSK9):c.960C>T (p.Asp320=) rs910368517 0.00001
NM_175875.5(SIX5):c.1629C>T (p.Asn543=) rs768534722 0.00001
NM_175875.5(SIX5):c.258C>G (p.Phe86Leu) rs950267055 0.00001
NM_175875.5(SIX5):c.945C>G (p.Cys315Trp) rs1444936221 0.00001
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_176824.3(BBS7):c.1038-16A>G rs201278442 0.00001
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val) rs906692940 0.00001
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr) rs200788672 0.00001
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly) rs746759579 0.00001
NM_176824.3(BBS7):c.1676+7C>G rs1247015446 0.00001
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val) rs751029709 0.00001
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met) rs773771144 0.00001
NM_176824.3(BBS7):c.1960G>C (p.Asp654His) rs143632090 0.00001
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys) rs1044486579 0.00001
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr) rs1342336710 0.00001
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys) rs1013002037 0.00001
NM_176824.3(BBS7):c.2136C>T (p.Phe712=) rs199782217 0.00001
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn) rs775395171 0.00001
NM_176824.3(BBS7):c.479G>A (p.Arg160His) rs138270119 0.00001
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg) rs1226167451 0.00001
NM_176824.3(BBS7):c.650C>T (p.Ala217Val) rs370510563 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile) rs1488474028 0.00001
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln) rs778714139 0.00001
NM_177438.3(DICER1):c.1770T>C (p.Cys590=) rs777355058 0.00001
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val) rs201212908 0.00001
NM_177438.3(DICER1):c.3269+12C>T rs775380766 0.00001
NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser) rs1288723916 0.00001
NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg) rs764415288 0.00001
NM_177438.3(DICER1):c.920G>A (p.Arg307His) rs149718671 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly) rs373012279 0.00001
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly) rs1197547920 0.00001
NM_177965.4(CFAP418):c.414G>A (p.Leu138=) rs150592488 0.00001
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) rs1483148451 0.00001
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro) rs767780150 0.00001
NM_178138.6(LHX3):c.80-10G>A rs555766551 0.00001
NM_178170.3(NEK8):c.1000G>A (p.Val334Met) rs771928671 0.00001
NM_178170.3(NEK8):c.1035C>T (p.Ala345=) rs751987503 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178170.3(NEK8):c.1092C>T (p.Gly364=) rs201321032 0.00001
NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu) rs199853008 0.00001
NM_178170.3(NEK8):c.2010C>T (p.Ser670=) rs566162608 0.00001
NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?) rs746234904 0.00001
NM_178170.3(NEK8):c.857C>G (p.Thr286Arg) rs903553470 0.00001
NM_178170.3(NEK8):c.935C>T (p.Ser312Leu) rs200212844 0.00001
NM_178170.3(NEK8):c.985A>G (p.Met329Val) rs142234912 0.00001
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs) rs762843285 0.00001
NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe) rs902459185 0.00001
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter) rs1717267418 0.00001
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) rs779897284 0.00001
NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro) rs778178524 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) rs564959505 0.00001
NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp) rs778856227 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_182643.3(DLC1):c.3327+8C>T rs559854315 0.00001
NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg) rs886051301 0.00001
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp) rs759826831 0.00001
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His) rs758415122 0.00001
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val) rs752892659 0.00001
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg) rs398124583 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter) rs137852208 0.00001
NM_198076.6(COX20):c.343A>G (p.Ser115Gly) rs1322874143 0.00001
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198252.3(GSN):c.1009C>T (p.Leu337=) rs528161256 0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) rs1468193571 0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=) rs199681748 0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) rs998869731 0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) rs368207411 0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) rs757684181 0.00001
NM_198252.3(GSN):c.1763-10C>T rs750829888 0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His) rs896776181 0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) rs545428148 0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) rs367933536 0.00001
NM_198252.3(GSN):c.393C>T (p.Asn131=) rs186654124 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=) rs765499763 0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) rs376060588 0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val) rs754268709 0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr) rs770943559 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) rs761334580 0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) rs1157815026 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_198334.3(GANAB):c.2177T>C (p.Met726Thr) rs772357517 0.00001
NM_198334.3(GANAB):c.415G>A (p.Glu139Lys) rs1033886387 0.00001
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) rs1426530664 0.00001
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) rs1366355966 0.00001
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) rs1030973947 0.00001
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) rs1381039813 0.00001
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) rs773192233 0.00001
NM_198428.3(BBS9):c.1464T>C (p.Ser488=) rs200850911 0.00001
NM_198428.3(BBS9):c.1537+14C>T rs754694089 0.00001
NM_198428.3(BBS9):c.1538-7T>G rs375661214 0.00001
NM_198428.3(BBS9):c.1790-7C>T rs746901030 0.00001
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) rs752845007 0.00001
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) rs543113169 0.00001
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) rs746543061 0.00001
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) rs1402083567 0.00001
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) rs774701632 0.00001
NM_198428.3(BBS9):c.2448C>T (p.Cys816=) rs375606348 0.00001
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) rs545725547 0.00001
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser) rs755911247 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) rs757469936 0.00001
NM_198428.3(BBS9):c.938A>G (p.His313Arg) rs533714503 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) rs759424882 0.00001
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr) rs567836651 0.00001
NM_198525.3(KIF7):c.976G>A (p.Val326Ile) rs1964066861 0.00001
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met) rs775422356 0.00001
NM_198578.4(LRRK2):c.2333G>A (p.Ser778Asn) rs1356461363 0.00001
NM_198578.4(LRRK2):c.4117G>A (p.Val1373Met) rs756381499 0.00001
NM_198578.4(LRRK2):c.500T>G (p.Met167Arg) rs201411683 0.00001
NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile) rs200498558 0.00001
NM_198578.4(LRRK2):c.7324C>T (p.Arg2442Cys) rs199893519 0.00001
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) rs755628714 0.00001
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) rs201060425 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter) rs747169857 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) rs1482942636 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_201384.3(PLEC):c.2742C>A (p.Phe914Leu) rs1826574724 0.00001
NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) rs782344020 0.00001
NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly) rs781881685 0.00001
NM_201384.3(PLEC):c.6064C>T (p.Arg2022Trp) rs781936068 0.00001
NM_201384.3(PLEC):c.9380G>A (p.Arg3127Gln) rs552993354 0.00001
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln) rs727503856 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_201596.3(CACNB2):c.1207G>A (p.Val403Ile) rs752546853 0.00001
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu) rs779536902 0.00001
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) rs773373763 0.00001
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr) rs142735478 0.00001
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) rs754596850 0.00001
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) rs761542420 0.00001
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) rs144509796 0.00001
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp) rs750366746 0.00001
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg) rs201280820 0.00001
NM_205861.3(DHDDS):c.658-2A>G rs1248671884 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) rs111033265 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) rs1174206381 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) rs746221227 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) rs201631375 0.00001
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) rs55838724 0.00001
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) rs757728612 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) rs373262036 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_207361.6(FREM2):c.2103G>A (p.Pro701=) rs117758105 0.00001
NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser) rs559654259 0.00001
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val) rs776875620 0.00001
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys) rs1437152125 0.00001
NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln) rs1367167650 0.00001
NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val) rs76419381 0.00001
NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala) rs746466859 0.00001
NM_207361.6(FREM2):c.5378G>A (p.Arg1793His) rs144476070 0.00001
NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro) rs116453495 0.00001
NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn) rs772357847 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr) rs759338792 0.00001
NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala) rs532526246 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys) rs775185183 0.00001
NM_207361.6(FREM2):c.8342G>A (p.Arg2781His) rs756570666 0.00001
NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His) rs188920480 0.00001
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln) rs376696206 0.00001
NM_212482.4(FN1):c.2429C>T (p.Ala810Val) rs568343071 0.00001
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val) rs80101897 0.00001
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala) rs770129874 0.00001
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile) rs201469351 0.00001
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg) rs760993609 0.00001
NM_212482.4(FN1):c.548-10T>C rs1407477861 0.00001
NM_212482.4(FN1):c.5602G>A (p.Val1868Met) rs369072643 0.00001
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu) rs145946514 0.00001
NM_212482.4(FN1):c.5735G>A (p.Arg1912His) rs775421803 0.00001
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn) rs201097962 0.00001
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter) rs754396418 0.00001
NM_212482.4(FN1):c.665G>A (p.Arg222His) rs778971356 0.00001
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile) rs751303604 0.00001
NM_212482.4(FN1):c.749A>C (p.Asp250Ala) rs372163398 0.00001
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu) rs1021933564 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser) rs757367942 0.00001
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr) rs1235291781 0.00001
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) rs758404955 0.00001
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe) rs773706712 0.00001
NM_213655.5(WNK1):c.2245T>C (p.Cys749Arg) rs370768693 0.00001
NM_213655.5(WNK1):c.2291T>C (p.Phe764Ser) rs1218729720 0.00001
NM_213655.5(WNK1):c.2354A>C (p.Lys785Thr) rs1190765461 0.00001
NM_213655.5(WNK1):c.2408C>T (p.Ala803Val) rs774021513 0.00001
NM_213655.5(WNK1):c.2890A>G (p.Met964Val) rs377113516 0.00001
NM_213655.5(WNK1):c.3293G>A (p.Gly1098Asp) rs376606314 0.00001
NM_213655.5(WNK1):c.3415T>C (p.Ser1139Pro) rs748557001 0.00001
NR_001566.1(TERC):n.35C>T rs199422260 0.00001
NR_003051.3(RMRP):n.-22_-14dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
GRCh37/hg19 4q22.1(chr4:90647764-90758128)
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
GRCh37/hg19 8q24.3(chr8:143958418-143996344)
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
NC_000005.10:g.(?_11732115)_(11732292_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000018.9:g.77733765C>A rs727502793
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1:m.11360A>G rs878928689
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.3243A>G rs199474657
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del) rs1570866192
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter) rs1486350523
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) rs148789330
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr) rs1064793382
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val) rs756194870
NM_000018.4(ACADVL):c.1941G>A (p.Val647=) rs2142991254
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp) rs727503788
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000023.4(SGCA):c.13C>G (p.Leu5Val) rs2144488329
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000026.4(ADSL):c.271C>T (p.His91Tyr) rs755518176
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000029.4(AGT):c.951C>T (p.Gly317=) rs771576624
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000035.4(ALDOB):c.673del (p.Glu225fs) rs758133069
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln) rs371526091
NM_000037.4(ANK1):c.2390_2393del
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2160G>A (p.Met720Ile) rs1283428855
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) rs1765215022
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) rs1580633119
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) rs1554085052
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.422+10C>G rs899376835
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) rs587781600
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) rs1766164614
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) rs773539706
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) rs1561612604
NM_000038.6(APC):c.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) rs1766608503
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000039.3(APOA1):c.271G>T (p.Val91Leu) rs2134231457
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[22] (p.Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000045.4(ARG1):c.665+2T>C rs113645893
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000048.4(ASL):c.656-3dup rs778811159
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) rs868834862
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1065+4C>T rs1591511595
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1927C>G (p.Leu643Val) rs1565389730
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.4(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu) rs1049900772
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro) rs2135797205
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe) rs1064793476
NM_000051.4(ATM):c.4553A>G (p.His1518Arg) rs762132832
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu) rs1591712583
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys) rs1555116507
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg) rs772850740
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala) rs587782225
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val) rs1555122090
NM_000051.4(ATM):c.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu) rs780931855
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly) rs1565533613
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile) rs771781881
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp) rs1591306536
NM_000051.4(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val) rs747445236
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro) rs587781630
NM_000053.4(ATP7B):c.-388C>T rs913869716
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1869+18_1869+20del rs758773114
NM_000053.4(ATP7B):c.186C>T (p.Val62=) rs1187762934
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) rs755202606
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.483T>C (p.Ile161=) rs2140100275
NM_000053.4(ATP7B):c.51dup rs1954023351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser) rs781950164
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg) rs1557100711
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000055.4(BCHE):c.100del (p.Ile34fs) rs750309713
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) rs745642690
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs) rs1064792995
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) rs1249900164
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) rs1555282154
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2157T>A (p.Asn719Lys) rs1064797382
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) rs397507282
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val) rs1555282574
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) rs80358526
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) rs1566227648
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) rs1555283763
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) rs397507336
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe) rs80358693
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) rs1060502462
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) rs80358907
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr) rs587781493
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp) rs1555289516
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000063.6(C2):c.1567+22_1567+43del rs541057516
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) rs2145417819
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000065.5(C6):c.1219C>T (p.Arg407Cys) rs147449601
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser) rs200077558
NM_000067.3(CA2):c.281A>G (p.His94Arg) rs2130558149
NM_000067.3(CA2):c.575C>T (p.Thr192Ile) rs369229469
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1988_1990del (p.Gly663del) rs770529441
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr) rs1008776680
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr) rs1555873407
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) rs770095972
NM_000071.3(CBS):c.622T>C (p.Trp208Arg) rs1060500683
NM_000071.3(CBS):c.667-14_667-7del rs764160782
NM_000071.3(CBS):c.671G>T (p.Arg224Leu) rs761647392
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) rs71469175
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000075.4(CDK4):c.504G>C (p.Gln168His) rs770086242
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.125A>G (p.Asn42Ser) rs1060501264
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.236C>T (p.Thr79Ile) rs1034265990
NM_000077.5(CDKN2A):c.253G>A (p.Ala85Thr) rs878853646
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000078.3(CETP):c.1345C>A (p.Leu449Ile) rs1164754201
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile) rs771950733
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7461-11_7461-9del rs777633676
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) rs6698427
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) rs71493533
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) rs1570335636
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys) rs779303344
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala) rs1688218490
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) rs1039226542
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) rs769039976
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) rs2153501357
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) rs1064796979
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) rs199851835
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val) rs1336654706
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) rs753621331
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr) rs1688533171
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) rs1197947308
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His) rs770525372
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu) rs576166457
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) rs1688630479
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu) rs368119434
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) rs1194692141
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly) rs1688703417
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) rs1688161240
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) rs1559052566
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1262del (p.Gly421fs) rs2125972772
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=) rs369557944
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.1407del (p.Gly470fs) rs766025194
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) rs2125982395
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1792C>G (p.Pro598Ala) rs2071331630
NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu) rs2071336508
NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu) rs2106124698
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser) rs747891356
NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr) rs1354756195
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) rs2106132144
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.2375-18T>C rs1449018778
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.2746+9T>C rs367574148
NM_000091.5(COL4A3):c.280-10_280-9del rs768505729
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) rs2072649241
NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu) rs55849096
NM_000091.5(COL4A3):c.3211-7A>G rs2106226162
NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly) rs766520935
NM_000091.5(COL4A3):c.3337+1del rs1350835100
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg) rs1229811135
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.384T>C (p.Ser128=) rs2125910138
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000091.5(COL4A3):c.4028-15T>C rs764478470
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del) rs570469692
NM_000091.5(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) rs2069900248
NM_000091.5(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) rs2125932297
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000091.5(COL4A3):c.766-7T>C rs777532605
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) rs1559872489
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) rs1305609812
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=) rs759536932
NM_000092.5(COL4A4):c.1204+5G>A rs748967270
NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr) rs2150686207
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.5(COL4A4):c.1370-17C>A rs369350196
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1459+16dup rs763434195
NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys) rs2059739807
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs) rs2150596830
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) rs2150595867
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) rs2150595484
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.1696+1G>A rs954701825
NM_000092.5(COL4A4):c.1696+1G>T rs954701825
NM_000092.5(COL4A4):c.1697-1G>A rs1559569975
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.1987+15dup rs754189803
NM_000092.5(COL4A4):c.204_212del (p.67PGP[1]) rs764884579
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG rs749658792
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) rs762682812
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2545+2T>G rs1559515075
NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup) rs765923395
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.297T>A (p.Pro99=) rs1576662029
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3214+1G>A rs747167770
NM_000092.5(COL4A4):c.3289+1G>C rs1973128133
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=) rs200065408
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=) rs1575931307
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.3973+1G>T rs755478262
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=) rs2149764265
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs) rs2149722718
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs) rs2149721718
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe) rs1962599188
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs) rs2149720724
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup) rs2149719615
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.871-1G>C rs375450996
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) rs863223475
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=) rs200882719
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn) rs538387822
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His) rs570498790
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs) rs2107746826
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe) rs2045195228
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr) rs775987562
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu) rs2107720058
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000096.4(CP):c.1del (p.Met1*) rs750317184
NM_000098.3(CPT2):c.1080C>T (p.Ile360=) rs749833236
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.1509C>T (p.Arg503=) rs1572385867
NM_000098.3(CPT2):c.15G>C (p.Leu5=) rs1443908294
NM_000098.3(CPT2):c.1645+14G>T rs2100274977
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000101.4(CYBA):c.384C>T (p.Gly128=) rs72547285
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=) rs61754264
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=) rs150698224
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs) rs2125314883
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter) rs72481807
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) rs72549382
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val) rs72975710
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000125.4(ESR1):c.30T>C (p.Ser10=) rs2077647
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) rs751071791
NM_000135.4(FANCA):c.119C>T (p.Ala40Val) rs563060518
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr) rs2040073158
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser) rs2039847109
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) rs2039846606
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) rs374490484
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) rs2143422796
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) rs562319781
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro) rs775917892
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) rs376888740
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) rs772712346
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) rs1163885123
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) rs757797015
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) rs1216426444
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro) rs1220495259
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) rs193172749
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) rs373168838
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) rs147672303
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) rs1203053045
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) rs1272640964
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) rs372691338
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg) rs2040844359
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) rs1598173112
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) rs1056497675
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) rs745693332
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) rs1064793615
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) rs1831182314
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) rs1830583670
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe) rs1800364
NM_000136.3(FANCC):c.590A>T (p.Asp197Val) rs1064793625
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000137.4(FAH):c.191del (p.Gln64fs) rs2142090831
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro) rs886044236
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys) rs746834413
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr) rs1489199503
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu) rs148076256
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu) rs2140733930
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala) rs761632843
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg) rs1031572615
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile) rs753900024
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser) rs1555398280
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr) rs2043467019
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu) rs1238143005
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile) rs1488326228
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile) rs2043401571
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu) rs780479561
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu) rs397515808
NM_000138.5(FBN1):c.442+4A>C rs768207411
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser) rs1057518501
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met) rs776199613
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln) rs769588424
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser) rs2043210015
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val) rs2141252254
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg) rs145082616
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile) rs1269096957
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile) rs1555395768
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln) rs370940450
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val) rs183690919
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg) rs2043116342
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe) rs1413266501
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser) rs2141237126
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) rs763165301
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu) rs776823384
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala) rs1375370990
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu) rs2043017212
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His) rs363830
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly) rs794728261
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile) rs2042946390
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala) rs2042941498
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg) rs2043995400
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val) rs2042898824
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg) rs2141353715
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe) rs1464168530
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser) rs951026080
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His) rs868087455
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) rs368599541
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys) rs1566919661
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
NM_000143.4(FH):c.1237-50TC[27] rs144131869
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.4(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.4(FH):c.578C>T (p.Thr193Ile) rs1573883332
NM_000143.4(FH):c.707C>T (p.Thr236Ile) rs773382103
NM_000143.4(FH):c.739-2A>G rs1553341174
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.907T>G (p.Leu303Val) rs1057523697
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter) rs2056081719
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1437+15C>T rs2143867420
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1577A>G (p.His526Arg) rs2139951434
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) rs963756824
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.307del (p.Ala103fs) rs2082622867
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000157.4(GBA1):c.*92G>A
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000159.4(GCDH):c.278A>G (p.His93Arg) rs398123192
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000161.3(GCH1):c.16G>T (p.Val6Leu) rs1413964407
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000163.5(GHR):c.484G>T (p.Val162Phe) rs6413484
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.1357-9T>A rs1583801330
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro) rs1064796326
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) rs2128705843
NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) rs1554304659
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) rs1476153727
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) rs144128064
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) rs1787103191
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) rs41305933
NM_000169.3(GLA):c.1068dup (p.Gln357fs) rs2147471075
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.259G>A (p.Glu87Lys) rs986730205
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.515G>A (p.Cys172Tyr) rs869312318
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.888G>T (p.Met296Ile) rs104894846
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.210T>C (p.Pro70=) rs1170354400
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter) rs746124283
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000179.3(MSH6):c.104C>T (p.Ala35Val) rs776547943
NM_000179.3(MSH6):c.1270G>A (p.Val424Ile) rs768299607
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg) rs863224616
NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr) rs1060502908
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys) rs876659508
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg) rs35552856
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) rs786202628
NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg) rs780081278
NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu) rs587782324
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp) rs370505117
NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del) rs1064792972
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=) rs786203698
NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly) rs1553331364
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln) rs1553331600
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala) rs769360577
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000179.3(MSH6):c.3919A>C (p.Asn1307His) rs730881808
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup) rs772655560
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) rs199739099
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.589G>C (p.Asp197His) rs148517241
NM_000179.3(MSH6):c.622A>G (p.Met208Val) rs369058374
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser) rs587779322
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000181.4(GUSB):c.57C>T (p.Cys19=) rs573989102
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser) rs374174659
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) rs1057517081
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.283-5del rs777429123
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000187.4(HGD):c.343-6T>A rs753344566
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000194.3(HPRT1):c.319-7dup rs371480320
NM_000194.3(HPRT1):c.319-8_319-7dup rs371480320
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.532+1_532+2del rs2124305218
NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr) rs762739119
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) rs757853476
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1533-17C>T rs187227619
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu) rs1271147542
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) rs372351461
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu) rs372351461
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro) rs1844268357
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu) rs973290077
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) rs376557022
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) rs1450596874
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) rs374679558
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys) rs551074257
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000196.4(HSD11B2):c.664+16dup rs72650121
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=) rs757957605
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.251A>G (p.His84Arg) rs2144755254
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) rs758017357
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.280C>T (p.Leu94Phe) rs1027910523
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000210.4(ITGA6):c.*142dup rs201055917
NM_000210.4(ITGA6):c.2245-3del rs746830225
NM_000210.4(ITGA6):c.2679+7C>T rs373610682
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter) rs754621187
NM_000210.4(ITGA6):c.915del (p.His305fs) rs2149047683
NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg) rs920885330
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr) rs183705877
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp) rs146269824
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=) rs375483568
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs) rs1178371226
NM_000213.5(ITGB4):c.4709-8C>A rs371797130
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) rs1157557804
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) rs2060802259
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1720+16dup rs774418829
NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn) rs933125751
NM_000214.3(JAG1):c.2228-13T>G rs1163165774
NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr) rs149949294
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe) rs1252730791
NM_000214.3(JAG1):c.2916+17G>A rs767489867
NM_000214.3(JAG1):c.3007G>A (p.Glu1003Lys) rs781509375
NM_000214.3(JAG1):c.3127G>A (p.Asp1043Asn) rs1278689263
NM_000214.3(JAG1):c.314A>G (p.Asn105Ser) rs1568806951
NM_000214.3(JAG1):c.322A>C (p.Asn108His) rs1242473299
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del) rs771530161
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.349C>G (p.Arg117Gly) rs752608779
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) rs749293754
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.86G>C (p.Cys29Ser) rs1434161643
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_000217.3(KCNA1):c.1333A>G (p.Ser445Gly) rs768749436
NM_000217.3(KCNA1):c.1378G>T (p.Asp460Tyr) rs754731331
NM_000217.3(KCNA1):c.1430A>G (p.Asn477Ser) rs1222837086
NM_000217.3(KCNA1):c.297C>T (p.Gly99=) rs772182513
NM_000217.3(KCNA1):c.421G>A (p.Glu141Lys) rs934102011
NM_000217.3(KCNA1):c.435C>T (p.Pro145=) rs761301513
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr) rs1848610150
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu) rs1848611273
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly) rs1057518902
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs) rs1464992494
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile) rs199473449
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.*1542G>A rs1448578468
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*2298C>G rs896302148
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*960C>T rs544365018
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) rs886044294
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
NM_000219.6(KCNE1):c.120C>T (p.Gly40=) rs756778741
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) rs1382168637
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser) rs199473645
NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly) rs199473645
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.3(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000228.3(LAMB3):c.-72C>A rs543183724
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000229.2(LCAT):c.101C>T (p.Pro34Leu) rs121908051
NM_000229.2(LCAT):c.340G>A (p.Val114Met) rs35673026
NM_000229.2(LCAT):c.694T>A (p.Ser232Thr) rs4986970
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.26_43dup (p.Gln9_Leu14dup) rs1164921895
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) rs118204066
NM_000237.3(LPL):c.688del (p.Val230fs) rs2128838185
NM_000238.4(KCNH2):c.-29GGCCCGCCC[3] rs754605400
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) rs794728376
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn) rs777410293
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu) rs868054429
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu) rs143335921
NM_000238.4(KCNH2):c.2405A>G (p.Asn802Ser) rs863224632
NM_000238.4(KCNH2):c.2457C>G (p.Asn819Lys) rs768725008
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) rs201765446
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly) rs140279503
NM_000238.4(KCNH2):c.2696C>A (p.Thr899Lys) rs1480554629
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) rs199473438
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu) rs794728398
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) rs794728398
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) rs866768546
NM_000238.4(KCNH2):c.2832G>C (p.Glu944Asp) rs1232364499
NM_000238.4(KCNH2):c.2931C>G (p.Cys977Trp) rs761585108
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup) rs794728469
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His) rs36210421
NM_000238.4(KCNH2):c.3302C>T (p.Pro1101Leu) rs199473041
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe) rs1344656004
NM_000238.4(KCNH2):c.434C>T (p.Thr145Ile) rs1801497068
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala) rs199472865
NM_000238.4(KCNH2):c.451C>G (p.Pro151Ala) rs1060500674
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr) rs2117006639
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) rs989191027
NM_000238.4(KCNH2):c.684G>A (p.Ala228=) rs1350217087
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_000238.4(KCNH2):c.724C>G (p.Arg242Gly) rs199472872
NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser) rs2117004283
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr) rs199472881
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000238.4(KCNH2):c.881G>T (p.Gly294Val) rs199473549
NM_000238.4(KCNH2):c.899C>T (p.Pro300Leu) rs1801437545
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu) rs199472886
NM_000239.3(LYZ):c.209C>G (p.Thr70Ser) rs1349579951
NM_000243.3(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs) rs1179528365
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) rs922232615
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg) rs1033941048
NM_000243.3(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser) rs375716505
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter) rs1959115695
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu) rs1281153557
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs) rs757708595
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln) rs150819742
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro) rs376971129
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg) rs772332566
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter) rs766323718
NM_000243.3(MEFV):c.410del (p.Gly137fs) rs767006697
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.414A>T (p.Gly138=) rs224224
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala) rs876660991
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp) rs1555459404
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr) rs202196752
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup) rs761993422
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg) rs104895179
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.933G>A (p.Ala311=) rs774547197
NM_000244.4(MEN1):c.-35A>T rs679946
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly) rs1175375174
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.185A>G (p.Gln62Arg) rs2081171469
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1990-17G>C rs1057521535
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.229T>G (p.Cys77Gly) rs63749859
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser) rs63751069
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.53G>A (p.Arg18His) rs1553637254
NM_000249.4(MLH1):c.553G>A (p.Val185Ile) rs63750012
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.589-1G>A rs587779027
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000249.4(MLH1):c.726G>A (p.Met242Ile) rs1559534445
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) rs774689817
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr) rs749671520
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys) rs267607954
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr) rs1553365763
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys) rs587779102
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys) rs63751054
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys) rs1361816581
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr) rs914610419
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser) rs757268664
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.464T>C (p.Val155Ala) rs876658188
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys) rs746259256
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys) rs2104242161
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu) rs1292522713
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) rs727505266
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly) rs730880532
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His) rs730880536
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu) rs1213818614
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp) rs201278114
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=) rs1235816440
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=) rs766721220
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp) rs61897383
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu) rs534345197
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr) rs730880700
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys) rs730880567
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val) rs730880569
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp) rs1007623141
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val) rs1399854518
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro) rs946763177
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) rs397516016
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala) rs1595841329
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) rs11570046
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=) rs377520770
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn) rs2095898499
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met) rs886039000
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro) rs730880625
NM_000256.3(MYBPC3):c.821+6T>C rs2095895947
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val) rs730880873
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2053del (p.Asp685fs) rs1566532860
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr) rs769396106
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr) rs2138665874
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly) rs1236517740
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr) rs1566530777
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met) rs1892589863
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu) rs1350140484
NM_000257.4(MYH7):c.2923-6C>A rs587781082
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) rs1892572355
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu) rs1000681552
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg) rs763760498
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=) rs746453011
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser) rs1555337299
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr) rs759256990
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=) rs1272236852
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His) rs375323916
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) rs933857323
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA rs1892420744
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn) rs730880780
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=) rs763934978
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) rs1555336580
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) rs730880804
NM_000257.4(MYH7):c.4644+5G>C rs730880797
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) rs1595073523
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly) rs1892196940
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.4953+4C>T rs933520031
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) rs1006534868
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly) rs145734640
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly) rs1595071680
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) rs28933098
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys) rs1057522617
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile) rs2138635423
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg) rs878853843
NM_000257.4(MYH7):c.899T>C (p.Met300Thr) rs1892892787
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) rs771522982
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr) rs372731424
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe) rs1566536367
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu) rs1893043424
NM_000258.3(MYL3):c.*13G>A
NM_000258.3(MYL3):c.158-2A>G rs1701985013
NM_000258.3(MYL3):c.158-3C>G rs111668273
NM_000258.3(MYL3):c.170C>T (p.Ala57Val) rs139794067
NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs) rs1702012642
NM_000258.3(MYL3):c.308-3C>T rs112911997
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) rs1085307526
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala) rs1248338056
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.132+6T>C rs781852295
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) rs766461538
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000261.2(MYOC):c.612G>T (p.Thr204=) rs57824969
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu) rs1838213882
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000270.4(PNP):c.171_172delinsTT (p.Arg58Ter) rs2139335365
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1714A>G (p.Asn572Asp) rs2058813808
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+13G>C rs568769965
NM_000271.5(NPC1):c.2179del (p.Val727fs) rs2145394955
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2476T>C (p.Ser826Pro) rs2145380651
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2897T>A (p.Phe966Tyr) rs2145370245
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000271.5(NPC1):c.3592-7_3592-5del rs764142835
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.200-11dup rs765652296
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.561G>A (p.Met187Ile) rs916507337
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1120A>G (p.Ile374Val) rs769076484
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.712A>G (p.Thr238Ala) rs199475577
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) rs387906530
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.240G>A (p.Pro80=) rs576772135
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile) rs2147981456
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser) rs1007960523
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr) rs748280556
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) rs748280556
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp) rs138476749
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) rs868519938
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe) rs1726235229
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly) rs755226061
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys) rs377398357
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe) rs888130252
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala) rs768028361
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) rs200001068
NM_000297.4(PKD2):c.952dup (p.Val318fs) rs2110107069
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs) rs747037908
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp) rs763065699
NM_000303.3(PMM2):c.*91C>T
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.256-7C>T rs561075568
NM_000303.3(PMM2):c.348-5C>A rs746660218
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) rs773420873
NM_000303.3(PMM2):c.640-13C>A rs372181885
NM_000303.3(PMM2):c.640-16C>G rs2141051377
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) rs778488908
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000312.4(PROC):c.263-28T>G rs2104952137
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.505G>T (p.Gly169Trp) rs989908811
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000313.4(PROS1):c.*221del rs776969264
NM_000313.4(PROS1):c.119G>A (p.Arg40His) rs7614835
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.-822G>T rs587779993
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1531C>G (p.Arg511Gly) rs1575526869
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) rs121434599
NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu) rs73067029
NM_000316.3(PTH1R):c.638+12G>A rs375241177
NM_000316.3(PTH1R):c.638+12G>C rs375241177
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) rs201016660
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) rs1478668973
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000329.3(RPE65):c.1450+13A>C rs371783875
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg) rs761628195
NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser) rs1274970281
NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys) rs1060501148
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val) rs779486899
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val) rs199473155
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile) rs2061688177
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg) rs1228779956
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu) rs747643709
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.274-5C>G rs773669619
NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu) rs199473181
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) rs7626962
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg) rs1390530399
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met) rs1575748933
NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser) rs794728875
NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly) rs1403211358
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile) rs1553695437
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu) rs794728889
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu) rs2125826544
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu) rs1367727373
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn) rs2061022221
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His) rs2125825520
NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly) rs768246863
NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val) rs2061017114
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln) rs199473325
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp) rs2061011355
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn) rs781270220
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup) rs1332941398
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile) rs41311117
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.760A>T (p.Met254Leu) rs2125910458
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) rs200401219
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) rs748962184
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) rs137852709
NM_000337.6(SGCD):c.*1906C>G rs540017785
NM_000337.6(SGCD):c.*1907G>A rs75063526
NM_000337.6(SGCD):c.*2813C>A rs886060297
NM_000337.6(SGCD):c.*2814G>A rs142023087
NM_000337.6(SGCD):c.*4935C>T rs1029399512
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6518C>T rs1165157961
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6664C>T rs1010222786
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe) rs766924806
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu) rs1327580871
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) rs1036163503
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys) rs1175659978
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) rs140747686
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) rs1254425688
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) rs770328592
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) rs367562995
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=) rs748832562
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala) rs200684333
NM_000343.4(SLC5A1):c.373-7del rs778194598
NM_000343.4(SLC5A1):c.584-6G>A rs200525887
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000345.4(SNCA):c.*77C>A rs145304567
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_000349.3(STAR):c.157C>G (p.Arg53Gly) rs550388651
NM_000349.3(STAR):c.158G>C (p.Arg53Pro) rs529036391
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1893del (p.Gln632fs) rs2133539303
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.772G>A (p.Val258Met) rs771471341
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu) rs376845574
NM_000361.3(THBD):c.180G>A (p.Met60Ile) rs2122673111
NM_000361.3(THBD):c.241G>A (p.Val81Ile) rs772288987
NM_000361.3(THBD):c.898C>T (p.Pro300Ser) rs199987510
NM_000362.5(TIMP3):c.610A>T (p.Ser204Cys) rs137853298
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val) rs1190447904
NM_000363.5(TNNI3):c.114dup (p.Ser39fs) rs772607683
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) rs375795196
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro) rs886039022
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) rs184709702
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1536C>T (p.Leu512=) rs1264512400
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp) rs1564482313
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) rs1845605103
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) rs752473063
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.217T>C (p.Leu73=) rs2132239282
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2392-8_2392-7del rs1554814696
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-6_2626-4del rs5901000
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) rs118203361
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser) rs1417111404
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys) rs2131610745
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=) rs1060504857
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val) rs1845024278
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) rs2132296041
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.5(TSC1):c.509-9C>G rs1275897593
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) rs118203407
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) rs1588363746
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.11_13del (p.His4del) rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) rs767889884
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000372.5(TYR):c.1036+13T>A rs1377064834
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000376.3(VDR):c.565C>A (p.His189Asn) rs778063507
NM_000376.3(VDR):c.86A>G (p.Asp29Gly) rs1280836121
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000379.4(XDH):c.1038G>A (p.Ala346=) rs557992688
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000379.4(XDH):c.1480C>A (p.Leu494Met) rs767352182
NM_000379.4(XDH):c.1495G>A (p.Asp499Asn) rs150262349
NM_000379.4(XDH):c.1510A>G (p.Met504Val) rs2148774872
NM_000379.4(XDH):c.2187TGT[1] (p.Val731del) rs760761330
NM_000379.4(XDH):c.2344G>A (p.Gly782Arg) rs544529260
NM_000379.4(XDH):c.2540A>G (p.Tyr847Cys) rs1311232806
NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser) rs1685335731
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) rs375290824
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000379.4(XDH):c.775G>A (p.Val259Met) rs373279221
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.640G>A (p.Val214Met) rs369232026
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10324C>A (p.Gln3442Lys) rs1663143963
NM_000384.3(APOB):c.10571A>C (p.Lys3524Thr) rs750035232
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp) rs1418775778
NM_000384.3(APOB):c.10727T>G (p.Leu3576Arg) rs1663130726
NM_000384.3(APOB):c.10811C>A (p.Ala3604Glu) rs776815102
NM_000384.3(APOB):c.11010G>C (p.Arg3670Ser) rs148127628
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.11088T>G (p.Ile3696Met) rs1663116627
NM_000384.3(APOB):c.11744C>T (p.Ser3915Phe) rs201990496
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val) rs369364335
NM_000384.3(APOB):c.12309G>C (p.Lys4103Asn) rs574791609
NM_000384.3(APOB):c.12443_12444delinsAA (p.Ala4148Glu) rs1558559244
NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)
NM_000384.3(APOB):c.13238del (p.Asn4413fs) rs758853340
NM_000384.3(APOB):c.13320del (p.Glu4441fs) rs750076573
NM_000384.3(APOB):c.13672G>A (p.Glu4558Lys) rs1662980631
NM_000384.3(APOB):c.1385A>G (p.Glu462Gly) rs1558573118
NM_000384.3(APOB):c.1400C>T (p.Ala467Val) rs376602710
NM_000384.3(APOB):c.1497G>T (p.Met499Ile) rs1663829713
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr) rs781234577
NM_000384.3(APOB):c.1784C>T (p.Ser595Phe) rs1047759477
NM_000384.3(APOB):c.2482C>T (p.His828Tyr) rs1663667473
NM_000384.3(APOB):c.3365G>T (p.Gly1122Val) rs1366616257
NM_000384.3(APOB):c.3847G>T (p.Gly1283Cys) rs2103361101
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000384.3(APOB):c.400G>A (p.Ala134Thr) rs368321279
NM_000384.3(APOB):c.5069T>A (p.Phe1690Tyr) rs751059071
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.537+1G>T rs2103384749
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys) rs189341276
NM_000384.3(APOB):c.5742T>C (p.Asn1914=) rs1374923668
NM_000384.3(APOB):c.5983G>A (p.Asp1995Asn) rs917338225
NM_000384.3(APOB):c.6063C>G (p.Asp2021Glu) rs556582055
NM_000384.3(APOB):c.6161T>G (p.Ile2054Ser) rs538245770
NM_000384.3(APOB):c.6417G>C (p.Lys2139Asn) rs1558564270
NM_000384.3(APOB):c.6530A>C (p.Tyr2177Ser) rs1199919734
NM_000384.3(APOB):c.656G>T (p.Arg219Leu) rs201606169
NM_000384.3(APOB):c.695C>A (p.Thr232Asn) rs756001082
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) rs146538280
NM_000384.3(APOB):c.7540G>A (p.Glu2514Lys) rs1216733455
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys) rs767146440
NM_000384.3(APOB):c.8129A>T (p.Asp2710Val) rs771882254
NM_000384.3(APOB):c.8226G>T (p.Gln2742His) rs376773500
NM_000384.3(APOB):c.8375C>G (p.Ser2792Cys) rs368776368
NM_000384.3(APOB):c.8702C>G (p.Ser2901Cys) rs1663202923
NM_000384.3(APOB):c.8794G>A (p.Ala2932Thr) rs2103353864
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys) rs372902533
NM_000384.3(APOB):c.9457T>C (p.Trp3153Arg) rs761484953
NM_000384.3(APOB):c.952C>A (p.Pro318Thr) rs758678209
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) rs769487055
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs) rs587776856
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3]) rs776920005
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.834+5G>A rs190234778
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly) rs56850150
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000428.3(LTBP2):c.*10dup rs546442756
NM_000428.3(LTBP2):c.2389-2A>G rs1327636983
NM_000428.3(LTBP2):c.4513A>G (p.Thr1505Ala) rs758952168
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000432.4(MYL2):c.*84C>T rs867853414
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) rs1064796377
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) rs1064796377
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) rs2136777356
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.2410+15dup rs747731340
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu) rs1405393607
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000436.4(OXCT1):c.278+1G>A rs2112471375
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter) rs121918578
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.999-2A>G rs1753232409
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000443.4(ABCB4):c.-18G>T rs886062461
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.420A>G (p.Ser140=) rs1158378032
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) rs749081778
NM_000444.6(PHEX):c.441G>A (p.Ala147=) rs770726332
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.653A>G (p.His218Arg) rs774907553
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000448.3(RAG1):c.432G>T (p.Lys144Asn) rs144430517
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly) rs864622448
NM_000455.5(STK11):c.25C>G (p.Leu9Val) rs876661079
NM_000455.5(STK11):c.486C>T (p.Asp162=) rs1269329328
NM_000455.5(STK11):c.558C>T (p.Thr186=) rs749563734
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000455.5(STK11):c.747C>T (p.Thr249=) rs759546076
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000465.4(BARD1):c.1495C>G (p.His499Asp) rs748867360
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1967G>A (p.Gly656Asp) rs572554455
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.2275C>T (p.Pro759Ser) rs1318628468
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr) rs587782482
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000478.6(ALPL):c.-194G>A rs111601456
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1189+11C>T rs201272867
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser) rs1644741692
NM_000478.6(ALPL):c.1310-5C>T rs755472353
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del) rs766831104
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.329G>A (p.Ser110Asn)
NM_000478.6(ALPL):c.393C>T (p.Ser131=) rs2148158625
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) rs1558549798
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del) rs756329108
NM_000479.5(AMH):c.1193C>T (p.Pro398Leu) rs368933314
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000484.3(APP):c.-170C>A rs538664273
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) rs1909091672
NM_000485.3(APRT):c.280_286del (p.Gly94fs) rs776240467
NM_000485.3(APRT):c.400+14C>T rs373048958
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) rs745872435
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter) rs1481158831
NM_000486.6(AQP2):c.502G>A (p.Val168Met)
NM_000486.6(AQP2):c.606+14C>T rs138177134
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) rs74315463
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.409-12dup rs201656611
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr) rs1396443734
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val) rs1554391473
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu) rs758250836
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT rs397515289
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr) rs1793109904
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) rs1447069098
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala) rs1554653718
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) rs199525592
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000497.4(CYP11B1):c.799+17G>A rs61751156
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) rs202091168
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) rs780878883
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro) rs2130324931
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=) rs1817673208
NM_000498.3(CYP11B2):c.799+10G>C rs1254465968
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=) rs1817675047
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg) rs727503047
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) rs2128850318
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.273-3T>C rs2129031680
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter) rs148824832
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.456+19G>T rs61735351
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000517.4(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser) rs1240272655
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser) rs747262113
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.263G>A (p.Arg88His) rs1441311870
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr) rs34398255
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) rs756844068
NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro) rs760168666
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg) rs143487752
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-146C>A rs879254369
NM_000527.4(LDLR):c.-228G>C
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) rs766474188
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) rs879254960
NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr) rs2077459016
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1869C>A (p.Ile623=) rs765202964
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.2389+9G>A rs768455845
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) rs2077280086
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) rs879254630
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) rs72658857
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000531.6(OTC):c.29_32del (p.Asn10fs) rs72552297
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr) rs1562637025
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1898A>G (p.His633Arg) rs63750024
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr) rs747494931
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter) rs761134229
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.706-3delinsTA rs1436961952
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys) rs372172981
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000537.4(REN):c.230T>G (p.Ile77Ser) rs574100052
NM_000537.4(REN):c.36GCT[3] (p.Leu16del) rs1571652012
NM_000537.4(REN):c.819-45TCTG[11] rs3839003
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp) rs147058802
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser) rs765145018
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr) rs377558801
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu) rs1568562966
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile) rs1568575693
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp) rs982601268
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln) rs1973328675
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1]) rs746833347
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3]) rs746833347
NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys) rs1471120810
NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del) rs938670458
NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup) rs1339923680
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=) rs1184700540
NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp) rs1027792397
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1]) rs193922846
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3]) rs1036726331
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr) rs1214553487
NM_000540.3(RYR1):c.13104G>A (p.Val4368=) rs1357186643
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys) rs1413644550
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg) rs1183376732
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr) rs1973378079
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val) rs1261297305
NM_000540.3(RYR1):c.13437+14C>T rs771599721
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6]) rs751816707
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His) rs145167688
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser) rs1049222611
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp) rs1599641292
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala) rs200002274
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu) rs1049117716
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg) rs1456212776
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14304-6C>A rs794728693
NM_000540.3(RYR1):c.14364+1G>T rs1974046221
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu) rs1032364286
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser) rs1316726339
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2384G>A (p.Arg795His) rs201635585
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro) rs1555772266
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala) rs143331857
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met) rs540088339
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val) rs139069946
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys) rs757687986
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser) rs200894780
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr) rs933347966
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp) rs35869497
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser) rs1568484483
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu) rs1335007839
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=) rs1193082244
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro) rs1369035565
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys) rs772803714
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly) rs368013861
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys) rs1970183094
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val) rs567321458
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly) rs770719689
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu) rs193922825
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del) rs767722812
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg) rs201292282
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp) rs759514075
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9001-15C>A rs372702492
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val) rs1970687243
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe) rs1970687243
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu) rs193922833
NM_000540.3(RYR1):c.947G>A (p.Arg316His) rs193922761
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile) rs373611044
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu) rs201588259
NM_000540.3(RYR1):c.985G>A (p.Asp329Asn) rs1966919745
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys) rs112151058
NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser) rs2145682498
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu) rs1172255199
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.1119+11G>C rs1026151983
NM_000548.5(TSC2):c.1119+12dup rs750078037
NM_000548.5(TSC2):c.1258-4A>G rs2086763634
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr) rs2086770532
NM_000548.5(TSC2):c.1341G>T (p.Ala447=) rs141609319
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu) rs2151173141
NM_000548.5(TSC2):c.1443+9C>G rs2151173612
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala) rs1279109316
NM_000548.5(TSC2):c.1599+16C>A rs45517181
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.1671G>A (p.Leu557=) rs761975891
NM_000548.5(TSC2):c.1716+15C>G rs199964793
NM_000548.5(TSC2):c.1717-20G>T rs1555505006
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly) rs370324876
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys) rs1596336374
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp) rs1213719461
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu) rs1195091149
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.2220+12G>T rs780039835
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser) rs777459404
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe) rs2088701360
NM_000548.5(TSC2):c.2329C>T (p.His777Tyr) rs1349953143
NM_000548.5(TSC2):c.2342A>G (p.Asp781Gly) rs2088705306
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) rs1596356291
NM_000548.5(TSC2):c.2396G>A (p.Arg799His) rs1567474646
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup) rs1298756950
NM_000548.5(TSC2):c.2493G>A (p.Thr831=) rs773645613
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser) rs1555508378
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu) rs750336814
NM_000548.5(TSC2):c.2612T>C (p.Ile871Thr) rs2089269466
NM_000548.5(TSC2):c.2639+12C>T rs1400051232
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln) rs1422374195
NM_000548.5(TSC2):c.2742+11G>A rs1256570311
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu) rs367640434
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp) rs765438249
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup) rs1567500517
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu) rs369536711
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=) rs2151455530
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=) rs772580979
NM_000548.5(TSC2):c.365T>A (p.Leu122His) rs756263581
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg) rs754466663
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr) rs2090429801
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly) rs2090482288
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.411C>G (p.His137Gln) rs776129896
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp) rs375785710
NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.5(TSC2):c.444C>T (p.Asp148=) rs767968378
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT rs2151539107
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4564A>G (p.Asn1522Asp) rs2090589266
NM_000548.5(TSC2):c.4565A>C (p.Asn1522Thr) rs144062721
NM_000548.5(TSC2):c.4569+3A>G rs2090590453
NM_000548.5(TSC2):c.4570-13C>T rs370549253
NM_000548.5(TSC2):c.4570-3_4570-2del rs2090619495
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=) rs1567131059
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln) rs1555498151
NM_000548.5(TSC2):c.5260-1G>A rs1057518103
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser) rs1405712076
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.600-18G>C rs199683502
NM_000548.5(TSC2):c.641_648+1del rs2085795613
NM_000548.5(TSC2):c.648+11C>G rs371896390
NM_000548.5(TSC2):c.722T>C (p.Val241Ala) rs888878542
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_000548.5(TSC2):c.975+15G>A rs753334357
NM_000548.5(TSC2):c.975+19G>T rs909473730
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.130G>C (p.Gly44Arg) rs1575921446
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu) rs369450995
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.202G>T (p.Asp68Tyr) rs2130005767
NM_000553.6(WRN):c.3209_3211delinsTTT (p.Cys1070_Pro1071delinsPheSer) rs878854138
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3309+1G>T rs1281075870
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3814C>T (p.Pro1272Ser) rs776989868
NM_000553.6(WRN):c.4011G>A (p.Met1337Ile) rs544317387
NM_000553.6(WRN):c.836G>C (p.Arg279Pro) rs768400363
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000562.3(C8A):c.107C>A (p.Ala36Glu) rs116201358
NM_000574.5(CD55):c.155G>T (p.Arg52Leu) rs28371588
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000631.5(NCF4):c.170G>T (p.Arg57Leu) rs746353194
NM_000631.5(NCF4):c.758+62C>T rs944647165
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) rs1216156102
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) rs1651360894
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu) rs928357712
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly) rs1045745115
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) rs758882822
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs) rs1652003965
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu) rs2100760670
NM_000642.3(AGL):c.2565T>C (p.His855=) rs1312742910
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2896A>T (p.Met966Leu) rs772843306
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3260-14_3260-10dup rs1653309500
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) rs757161555
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.460+1G>A rs930434905
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.922A>G (p.Lys308Glu) rs2101113540
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000642.3(AGL):c.974C>G (p.Thr325Ser) rs2101126080
NM_000685.5(AGTR1):c.599dup (p.Asn200fs) rs1559934279
NM_000685.5(AGTR1):c.925T>C (p.Phe309Leu) rs764229950
NM_000690.4(ALDH2):c.731C>T (p.Thr244Met) rs543030829
NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) rs1057518514
NM_000702.4(ATP1A2):c.1859C>G (p.Thr620Arg) rs1057521886
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr) rs1553245907
NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) rs373276446
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile) rs754327984
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000718.4(CACNA1B):c.3279C>T (p.Val1093=) rs147270326
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala) rs776242172
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val) rs1199713333
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met) rs2075018681
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn) rs1165009288
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3946-44C>T rs760982440
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del) rs786205773
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val) rs201492706
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr) rs1309430190
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser) rs2097429400
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser) rs1603462676
NM_000719.7(CACNA1C):c.5784+4G>T rs2097478141
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg) rs762896810
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg) rs368817423
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln) rs1279028766
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter) rs2141325372
NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val) rs1019612389
NM_000744.7(CHRNA4):c.448C>A (p.Gln150Lys) rs200747769
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) rs202079239
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu) rs1227845728
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000785.4(CYP27B1):c.386+14G>A rs373607899
NM_000785.4(CYP27B1):c.386+14G>T rs373607899
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.2570G>A (p.Arg857His) rs146089353
NM_000789.4(ACE):c.2739+5G>A rs774239045
NM_000789.4(ACE):c.3521del (p.Gly1174fs) rs754265941
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val) rs1568048955
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000789.4(ACE):c.3695G>A (p.Arg1232His) rs372282664
NM_000789.4(ACE):c.383G>A (p.Gly128Asp) rs767085054
NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1]) rs532691783
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000790.4(DDC):c.316del rs1364054304
NM_000821.7(GGCX):c.1217G>A (p.Arg406His) rs139574592
NM_000824.5(GLRB):c.298-19G>T rs371067472
NM_000824.5(GLRB):c.904+4A>T rs76714257
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp) rs144657366
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000875.5(IGF1R):c.-41_-33del rs544674838
NM_000875.5(IGF1R):c.1762A>G (p.Met588Val) rs927339129
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.-289GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289GA[19] rs71057905
NM_000890.5(KCNJ5):c.-291C>G rs10893931
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) rs930047035
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA rs2136003778
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_000899.5(KITLG):c.130-11dup rs11428619
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) rs121912569
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176
NM_000939.4(POMC):c.283A>G (p.Ser95Gly) rs550376110
NM_000939.4(POMC):c.434G>A (p.Arg145His) rs45463492
NM_000944.5(PPP3CA):c.1156+20G>C rs370212443
NM_000944.5(PPP3CA):c.1156+20G>T rs370212443
NM_000944.5(PPP3CA):c.1339+13_1339+15dup rs546166325
NM_000944.5(PPP3CA):c.656A>G (p.Lys219Arg) rs754775984
NM_000944.5(PPP3CA):c.955+18C>A rs370681817
NM_000944.5(PPP3CA):c.955+18C>T rs370681817
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000987.5(RPL26):c.-5-16_-5-15del rs533883480
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001002294.3(FMO3):c.428T>A (p.Val143Glu) rs951676823
NM_001002294.3(FMO3):c.585G>C (p.Ser195=) rs144283823
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup) rs547425013
NM_001002295.2(GATA3):c.480C>T (p.Asp160=) rs143627754
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser) rs148835259
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser) rs11567901
NM_001003722.2(GLE1):c.946C>T (p.Arg316Trp) rs749236753
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn) rs147646554
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) rs1286047743
NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=) rs755478742
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) rs905741990
NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=) rs112479136
NM_001003841.3(SLC6A19):c.202+12G>A rs369314798
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) rs201070872
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) rs375879452
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) rs190631924
NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter) rs757044884
NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys) rs114844749
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=) rs1555143127
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe) rs769817013
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu) rs1956192621
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val) rs1192534020
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile) rs1085307949
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005373.4(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008388.5(CISD2):c.60G>C (p.Arg20=) rs564095499
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.10619-13del rs562614426
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11412-7C>T rs553377243
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11538-4G>T rs763279854
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr) rs2092660647
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.359+2T>G rs2092683440
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.7341G>T (p.Thr2447=) rs573611925
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) rs397518456
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.133A>G (p.Ile45Val) rs1661264441
NM_001011.4(RPS7):c.357-3del rs140914434
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) rs756768331
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr) rs2142908879
NM_001015880.2(PAPSS2):c.381+7_381+24dup rs367885911
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp) rs199704139
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) rs369617788
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) rs1555407795
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr) rs1475635564
NM_001018005.2(TPM1):c.563+249C>T rs397516379
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.588-25dup rs574290389
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) rs2150368246
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.181+6_181+7del rs746906342
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201
NM_001032.5(RPS29):c.163-4del rs373877728
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001034850.3(RETREG1):c.803G>C (p.Arg268Thr) rs370636928
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del) rs745428229
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) rs1689900582
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) rs2149142608
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) rs80313920
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr) rs1060500135
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) rs570414987
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) rs1658553532
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) rs1235379196
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) rs886039213
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn) rs1558439258
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) rs1659493419
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) rs2149404631
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) rs749201569
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr) rs2102968070
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys) rs373502556
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala) rs1658861680
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) rs564957172
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr) rs1664091907
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val) rs768063536
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) rs774486571
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) rs794728698
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) rs773162223
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350
NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp) rs2148252443
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu) rs779640835
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu) rs763881346
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=) rs780861754
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) rs747297455
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn) rs1553515422
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro) rs794728734
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) rs769163639
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) rs1298609322
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4910+3C>G rs757198624
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) rs1678240011
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) rs1168483242
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala) rs41315858
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) rs754811291
NM_001035.3(RYR2):c.596G>T (p.Gly199Val) rs754911836
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) rs2148667315
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) rs375371340
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) rs1681171235
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala) rs747787121
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) rs1218556750
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) rs1399536009
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) rs2150028964
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) rs2148878470
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) rs748858246
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) rs1014875855
NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) rs1568348711
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) rs1555720710
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala) rs2151748815
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile) rs1555771695
NM_001039348.3(EFEMP1):c.1000+19del rs56280335
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter) rs370858630
NM_001040113.2(MYH11):c.654+1G>A rs770424951
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser) rs2105355734
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val) rs1702022330
NM_001040151.2(SCN3B):c.-62del rs886047904
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) rs1047044671
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001041.4(SI):c.119-11dup rs533057264
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del) rs1446666305
NM_001041.4(SI):c.1506T>G (p.Leu502=) rs113511967
NM_001041.4(SI):c.1567A>C (p.Asn523His) rs780055379
NM_001041.4(SI):c.2025dup (p.Gly676fs) rs2108219188
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2361A>C (p.Ile787=) rs116791931
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2737-11del rs11452619
NM_001041.4(SI):c.2737-12_2737-11del rs11452619
NM_001041.4(SI):c.2737-17_2737-11del rs11452619
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.3064G>A (p.Val1022Met) rs201018248
NM_001041.4(SI):c.3423+10A>G rs200899300
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.371T>C (p.Ile124Thr) rs889224862
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.374-11dup rs11313475
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg) rs1559990351
NM_001041.4(SI):c.4842-3G>A rs112107483
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly) rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp) rs760505676
NM_001041.4(SI):c.4999G>A (p.Val1667Ile) rs142018224
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001041.4(SI):c.5385G>A (p.Ser1795=) rs759867192
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001041.4(SI):c.636-22_636-19del rs558953371
NM_001041.4(SI):c.793del (p.Gln265fs) rs1714177959
NM_001042413.2(GLIS3):c.*69T>C rs913597564
NM_001042413.2(GLIS3):c.2323C>T (p.His775Tyr) rs745671153
NM_001042413.2(GLIS3):c.2473+13C>T rs368773221
NM_001042413.2(GLIS3):c.2657-17C>T rs746005781
NM_001042413.2(GLIS3):c.388G>A (p.Gly130Arg) rs777378754
NM_001042413.2(GLIS3):c.41C>G (p.Ser14Trp) rs765421766
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) rs1586744173
NM_001042413.2(GLIS3):c.95G>C (p.Arg32Pro) rs375834888
NM_001042432.2(CLN3):c.223-8C>T rs973448262
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042432.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1509T>C (p.Asp503=) rs1597698493
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_001042492.3(NF1):c.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.2001+11_2001+13del rs750468034
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.3(NF1):c.2252-18G>C rs754583248
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2586C>T (p.Thr862=) rs1567848941
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2694G>A (p.Leu898=) rs1060503923
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.289-6T>C rs757074803
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3496+14A>G rs2151434934
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=) rs757398594
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4110+15A>G rs1331795815
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr) rs2067662991
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro) rs876660162
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=) rs2151537601
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5813-12A>G rs768741646
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6007-9_6007-7del rs1274172088
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=) rs2069671357
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.6428-7C>G rs1597843613
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6819+3del rs2069728377
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7062+12_7062+13del rs753202735
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=) rs2069867490
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.731-16T>C rs1227193781
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr) rs1555536690
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln) rs1060503906
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=) rs1597866857
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val) rs2070377037
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=) rs1597883029
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val) rs2151601629
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042646.3(TRAK1):c.432C>T (p.Thr144=) rs11544368
NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2]) rs147985313
NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4]) rs147985313
NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6]) rs201570536
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) rs116621105
NM_001046.3(SLC12A2):c.2107+11A>G rs189093520
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) rs760024899
NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) rs761150347
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) rs1484832467
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del) rs587784448
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1331G>T (p.Gly444Val) rs1553125016
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys) rs1064794128
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.20C>T (p.Ala7Val) rs1057517460
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.424G>A (p.Val142Met) rs786203212
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly) rs761101420
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp) rs587778538
NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr) rs17033889
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) rs1443643776
NM_001079866.2(BCS1L):c.460+11del rs756708393
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs) rs1759308366
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001080512.3(BICC1):c.1718A>G (p.His573Arg) rs780599737
NM_001080512.3(BICC1):c.41C>T (p.Ser14Leu) rs769280220
NM_001080517.3(SETD5):c.4243_4244del (p.Pro1415fs) rs775402365
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) rs367878305
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083603.3(PTCH1):c.74del (p.Pro25fs) rs1350435311
NM_001083961.2(WDR62):c.1535G>T (p.Arg512Leu) rs375417358
NM_001083961.2(WDR62):c.1598A>G (p.His533Arg) rs1972100904
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=) rs145593845
NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His) rs1736599400
NM_001098511.3(KIF2A):c.2044G>A (p.Ala682Thr) rs61748225
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del) rs1468160803
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala) rs887315764
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del) rs746614953
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer) rs964823190
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.886-13T>C rs2148043429
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.-6-15C>G rs375195937
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001103.4(ACTN2):c.*286T>C rs190536248
NM_001103.4(ACTN2):c.*979C>A rs181615071
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly) rs1234368540
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln) rs764031568
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu) rs773915011
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.21C>T (p.Gly7=) rs1387972965
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_001105206.3(LAMA4):c.1163C>A (p.Ala388Asp) rs1355664776
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=) rs782796474
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln) rs1554334150
NM_001105206.3(LAMA4):c.247G>C (p.Asp83His) rs531319918
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) rs869025450
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp) rs138176093
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln) rs782029414
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His) rs559725422
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser) rs529185662
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs) rs1249093492
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs) rs1554325284
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter) rs1554325261
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val) rs41289900
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser) rs782001026
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr) rs782121531
NM_001105206.3(LAMA4):c.730G>A (p.Gly244Arg) rs147078770
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg) rs147078770
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_001105206.3(LAMA4):c.868T>C (p.Ser290Pro) rs782433369
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala) rs782433369
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu) rs368136178
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110354.2(ZP3):c.923+8_923+10del rs58854734
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile) rs2147004930
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) rs769453869
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) rs978000003
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) rs1252915442
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) rs2055130868
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) rs757102747
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) rs1005232714
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001113525.2(ZNF276):c.*630C>A rs374793201
NM_001113525.2(ZNF276):c.*630C>G rs374793201
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.387G>A (p.Glu129=) rs1588583668
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001122630.2(CDKN1C):c.*5+20G>T rs760540648
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys) rs2133785693
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg) rs1590150723
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) rs1443296311
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr) rs1329147434
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) rs1564929381
NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser) rs2133782321
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) rs757336022
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) rs151048521
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) rs1171967366
NM_001122769.3(LCA5):c.137T>A (p.Val46Asp) rs765571375
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-828C>T rs786203674
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly) rs28936387
NM_001126108.2(SLC12A3):c.1568-5C>T rs751475080
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.2720+1G>C rs1347239469
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=) rs2144766852
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=) rs766590120
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro) rs758035631
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) rs751675724
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg) rs80354176
NM_001127217.3(SMAD9):c.218G>A (p.Arg73His) rs1453268397
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys) rs781563938
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) rs755613828
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-142G>A rs951500465
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) rs1933713383
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) rs587777465
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) rs2140158660
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del) rs71036212
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) rs2145340495
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) rs1599376406
NM_001130969.3(NSMF):c.1132-22_1132-15del rs751029049
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3092A>G (p.Glu1031Gly) rs2152815107
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met) rs144383140
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1]) rs749619435
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) rs2134793204
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln) rs368716639
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val) rs1844749476
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) rs1554842673
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr) rs876657976
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter) rs1861836936
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg) rs982286757
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) rs1844907124
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) rs947100716
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp) rs886046706
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe) rs753102653
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val) rs887276458
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) rs727504583
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) rs1231520936
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) rs2135041793
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065
NM_001134363.3(RBM20):c.936G>T (p.Leu312=) rs1283162002
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile) rs893189529
NM_001134407.3(GRIN2A):c.2415C>T (p.Asn805=) rs777235967
NM_001134407.3(GRIN2A):c.2801T>C (p.Met934Thr) rs540019898
NM_001134407.3(GRIN2A):c.2933A>T (p.Tyr978Phe) rs948782419
NM_001134407.3(GRIN2A):c.3026G>A (p.Arg1009Lys) rs1900786503
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter) rs1064794841
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001136191.3(KANK2):c.2502+15G>A rs113611112
NM_001136193.2(FASTKD2):c.-15A>G rs886055505
NM_001136193.2(FASTKD2):c.1427+20dup rs371981683
NM_001136193.2(FASTKD2):c.2014-12_2014-11del rs770341016
NM_001142459.2(ASB10):c.709C>G (p.Arg237Gly) rs61735708
NM_001142571.2(RAD51D):c.-279_-275del rs761104531
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.3164+8dup rs201012275
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg) rs536260976
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) rs564315274
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser) rs755966517
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser) rs772989862
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001143992.2(WRAP53):c.1049del (p.Gly350fs) rs759174078
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001144967.3(NEDD4L):c.1132G>A (p.Val378Met) rs2145157218
NM_001144967.3(NEDD4L):c.1483A>G (p.Thr495Ala) rs1297218616
NM_001144967.3(NEDD4L):c.1523C>T (p.Ala508Val) rs573738976
NM_001144967.3(NEDD4L):c.1607T>G (p.Met536Arg) rs369952868
NM_001144967.3(NEDD4L):c.2488-8del rs751368482
NM_001144967.3(NEDD4L):c.2488-8dup rs751368482
NM_001144967.3(NEDD4L):c.2488-9_2488-8del rs751368482
NM_001144967.3(NEDD4L):c.349-3C>A rs767138884
NM_001144967.3(NEDD4L):c.48+11C>G rs751788981
NM_001144967.3(NEDD4L):c.48+14C>A rs372316024
NM_001144967.3(NEDD4L):c.48+14C>T rs372316024
NM_001144967.3(NEDD4L):c.812A>C (p.Glu271Ala) rs1404724194
NM_001145715.3(KPNA7):c.865G>C (p.Val289Leu) rs191355534
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001148.6(ANK2):c.10362G>T (p.Arg3454Ser) rs55726422
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala) rs761631834
NM_001148.6(ANK2):c.10431C>A (p.Phe3477Leu) rs2154031171
NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser) rs2049005904
NM_001148.6(ANK2):c.10753A>T (p.Thr3585Ser) rs955760988
NM_001148.6(ANK2):c.1136G>A (p.Arg379His) rs186264035
NM_001148.6(ANK2):c.11655A>C (p.Glu3885Asp) rs1198488694
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys) rs377555678
NM_001148.6(ANK2):c.1364C>A (p.Ala455Asp) rs1305931806
NM_001148.6(ANK2):c.1474G>A (p.Ala492Thr) rs2153658293
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup) rs770530257
NM_001148.6(ANK2):c.2768A>T (p.Asp923Val) rs2083706279
NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln) rs2093465785
NM_001148.6(ANK2):c.3914G>A (p.Arg1305Gln) rs750510790
NM_001148.6(ANK2):c.4436C>G (p.Thr1479Arg) rs762685310
NM_001148.6(ANK2):c.5060C>A (p.Thr1687Lys) rs900402464
NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro) rs777085522
NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser) rs200645469
NM_001148.6(ANK2):c.5815G>C (p.Val1939Leu) rs759195568
NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn) rs759970012
NM_001148.6(ANK2):c.6442G>T (p.Asp2148Tyr) rs1301230685
NM_001148.6(ANK2):c.6526ACA[1] (p.Thr2177del) rs749429192
NM_001148.6(ANK2):c.6547A>G (p.Met2183Val) rs773708100
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly) rs28377576
NM_001148.6(ANK2):c.7388C>T (p.Ser2463Phe) rs2095742714
NM_001148.6(ANK2):c.7553A>G (p.Glu2518Gly) rs926379811
NM_001148.6(ANK2):c.7860TTC[1] (p.Ser2624del) rs772341643
NM_001148.6(ANK2):c.7971C>G (p.Ser2657Arg) rs146085234
NM_001148.6(ANK2):c.8057T>A (p.Val2686Glu) rs56095304
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile) rs753223319
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys) rs2148376111
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2415+9A>G rs2105827142
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter) rs2100667492
NM_001170535.3(ATAD3A):c.750+10C>A rs569633380
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) rs2152278438
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) rs2048112873
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) rs2047802820
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) rs143588929
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) rs143588929
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) rs893859633
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) rs200800189
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) rs200800189
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) rs775243858
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) rs758648156
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) rs940876455
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) rs143212758
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3883-5G>A rs72664213
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) rs63750135
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001171155.2(PET100):c.139-11_139-9del rs748611501
NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del) rs1322397607
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys) rs2105707260
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser) rs2105823534
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173467.3(SP7):c.-47-15del rs886049660
NM_001173467.3(SP7):c.135_136del (p.Lys46fs) rs546981961
NM_001173467.3(SP7):c.144C>G (p.Tyr48Ter) rs1944675478
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507
NM_001174147.2(LMX1B):c.237G>T (p.Glu79Asp) rs2118823518
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) rs1835287406
NM_001174147.2(LMX1B):c.327-6C>T rs572751023
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) rs149434820
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=) rs368736494
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881
NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val) rs1483508428
NM_001174150.2(ARL13B):c.1211-1G>C rs767291160
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) rs374826755
NM_001177316.2(SLC34A3):c.1187C>T (p.Thr396Met) rs138798032
NM_001177316.2(SLC34A3):c.1198G>A (p.Val400Met) rs748862410
NM_001177316.2(SLC34A3):c.1208T>G (p.Met403Arg) rs532292902
NM_001177316.2(SLC34A3):c.1210+17G>A rs202071967
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=) rs144275345
NM_001177316.2(SLC34A3):c.1351TTC[2] (p.Phe453del) rs761662543
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=) rs121918238
NM_001177316.2(SLC34A3):c.1462G>C (p.Ala488Pro) rs149389629
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.195_215dup (p.Arg65_Gly71dup) rs532224704
NM_001177316.2(SLC34A3):c.449-14C>A rs545767491
NM_001177316.2(SLC34A3):c.449-9C>G rs377306924
NM_001177316.2(SLC34A3):c.496G>C (p.Gly166Arg) rs200536604
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp) rs199747826
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.751G>C (p.Val251Leu) rs776182012
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=) rs747540875
NM_001177316.2(SLC34A3):c.891GAA[1] (p.Lys298del) rs775037904
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001177316.2(SLC34A3):c.956C>T (p.Thr319Met) rs769622295
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del) rs779715723
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001190787.3(MCIDAS):c.218-13_218-6dup rs771063151
NM_001194958.2(KCNJ18):c.364C>T (p.Pro122Ser)
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
NM_001195129.2(PRSS56):c.739C>T (p.Arg247Cys) rs545607218
NM_001195248.2(APTX):c.484-13_484-12delinsTG rs1064794547
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195305.3(BBIP1):c.148_150dup (p.Leu50dup) rs991079395
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199138.2(NLRC4):c.213dup (p.Ser72fs) rs1369844308
NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu) rs760257421
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) rs550226363
NM_001204.7(BMPR2):c.*5535G>A rs546195086
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.4882-6_4882-4del rs560116244
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln) rs758936777
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) rs138509145
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val) rs943252271
NM_001206927.2(DNAH8):c.8747+4C>T rs201261721
NM_001206999.2(CIT):c.2532-6del rs34851548
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu) rs776363221
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) rs201499112
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) rs994458759
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1374C>T (p.His458=) rs180177481
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=) rs201102829
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) rs201969526
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) rs2103162880
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) rs1450171900
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) rs147631017
NM_001243133.2(NLRP3):c.726G>T (p.Ala242=) rs3806268
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001244008.2(KIF1A):c.204G>A (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln) rs1195379895
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) rs1553259191
NM_001256007.3(PNPLA8):c.1626-15del rs3214243
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His) rs146847449
NM_001267550.2(TTN):c.*913C>A rs886055213
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro) rs373484505
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val) rs775824162
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile) rs752227022
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro) rs1690528772
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del) rs762798421
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro) rs754949098
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg) rs775137392
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly) rs1689696229
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln) rs1404462483
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser) rs1689071281
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser) rs373610666
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val) rs386653129
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro) rs750550267
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser) rs879048717
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser) rs780544430
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile) rs1053387515
NM_001267550.2(TTN):c.107681-18dup rs148707308
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter) rs770506970
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn) rs1243794346
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met) rs1017307763
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser) rs758968807
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=) rs547338168
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.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.13128C>A (p.Asp4376Glu) rs759726422
NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro) rs2154355944
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.15497-2A>G rs1232334931
NM_001267550.2(TTN):c.1662+5G>A rs1021479898
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile) rs2154308873
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.18089A>G (p.Gln6030Arg) rs1560784359
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=) rs1221916366
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser) rs374964612
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala) rs1560756818
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=) rs1553913320
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile) rs878978917
NM_001267550.2(TTN):c.2226C>T (p.Ser742=) rs151025677
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg) rs1060500493
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs) rs2154301477
NM_001267550.2(TTN):c.22741G>T (p.Asp7581Tyr) rs1433348204
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs) rs1211248610
NM_001267550.2(TTN):c.23098+1G>T rs2154300949
NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup) rs1451740768
NM_001267550.2(TTN):c.23660-13CTT[2] rs563250569
NM_001267550.2(TTN):c.24784+6T>G rs1560640894
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=) rs369089044
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) rs750195208
NM_001267550.2(TTN):c.25699A>G (p.Thr8567Ala) rs777832511
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn) rs1060500488
NM_001267550.2(TTN):c.26719C>G (p.Pro8907Ala) rs764261158
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe) rs878969676
NM_001267550.2(TTN):c.27429T>C (p.Val9143=) rs753291492
NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn) rs727504202
NM_001267550.2(TTN):c.28240G>T (p.Ala9414Ser) rs794729635
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro) rs527663092
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) rs4893852
NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln) rs375796685
NM_001267550.2(TTN):c.30608C>G (p.Pro10203Arg) rs1344215902
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-4_30683-3del rs368277751
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser) rs747294929
NM_001267550.2(TTN):c.3071T>G (p.Val1024Gly) rs879097187
NM_001267550.2(TTN):c.30754+1G>T rs914288774
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser) rs397517537
NM_001267550.2(TTN):c.31757C>G (p.Pro10586Arg) rs200459347
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu) rs200459347
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) rs886055305
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val) rs794729407
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln) rs73973137
NM_001267550.2(TTN):c.32887+1G>T rs546105899
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser) rs727504210
NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala) rs772242510
NM_001267550.2(TTN):c.33418+11del rs779637808
NM_001267550.2(TTN):c.33418+2T>A rs779749654
NM_001267550.2(TTN):c.337A>G (p.Met113Val) rs1060500430
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.34499dup (p.Pro11501fs) rs1560284392
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.34786+1G>T rs879010418
NM_001267550.2(TTN):c.34787-19del rs749050618
NM_001267550.2(TTN):c.34801C>T (p.Pro11601Ser) rs1013759400
NM_001267550.2(TTN):c.35025G>A (p.Val11675=) rs1047010138
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs) rs2154260181
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=) rs773862719
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val) rs576019235
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala) rs146313925
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala) rs1060500552
NM_001267550.2(TTN):c.37616_37627+12del rs1560149416
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr) rs1060500468
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met) rs1577039412
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) rs202075225
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys) rs1553777033
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.38919del (p.Leu12974fs) rs1359574718
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del) rs727503631
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu) rs1060500460
NM_001267550.2(TTN):c.39539del (p.Pro13180fs) rs2062944024
NM_001267550.2(TTN):c.39818-4_39821delinsA rs2062659844
NM_001267550.2(TTN):c.40057+10A>G rs1576917346
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val) rs1190002260
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys) rs727504198
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe) rs1433887768
NM_001267550.2(TTN):c.42430T>A (p.Phe14144Ile) rs1359996660
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys) rs575813993
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr) rs1296402152
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg) rs878896650
NM_001267550.2(TTN):c.44204A>G (p.Asn14735Ser) rs763464756
NM_001267550.2(TTN):c.44281+5G>A rs2059634223
NM_001267550.2(TTN):c.44375T>C (p.Ile14792Thr) rs747654057
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) rs886055276
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn) rs757693661
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=) rs747163190
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu) rs1553713980
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg) rs1553711574
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47875+4_47875+7del rs753206674
NM_001267550.2(TTN):c.4814+9G>C rs768137657
NM_001267550.2(TTN):c.48451A>C (p.Thr16151Pro) rs186497293
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) rs876658063
NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys) rs794727352
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.54320C>G (p.Ala18107Gly) rs794729457
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val) rs886038866
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr) rs141213991
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys) rs374151130
NM_001267550.2(TTN):c.56855G>T (p.Gly18952Val) rs762735652
NM_001267550.2(TTN):c.56941G>A (p.Ala18981Thr) rs760651904
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del) rs749887998
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys) rs375305621
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=) rs886042123
NM_001267550.2(TTN):c.59035+6G>A rs753714590
NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg) rs2154185954
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu) rs376618165
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser) rs375009570
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=) rs778528252
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=) rs755233818
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg) rs1472565206
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln) rs1559561109
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup) rs750904641
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser) rs1320436212
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys) rs771219209
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) rs1559507734
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=) rs1553626322
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=) rs2047769242
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) rs886055253
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg) rs201284459
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr) rs1559493839
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=) rs757244505
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) rs876658077
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=) rs768458635
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu) rs368325616
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71C>T (p.Thr24Ile) rs536235994
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val) rs1709019921
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=) rs1218286270
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys) rs1553608093
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile) rs1055906361
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp) rs748296171
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu) rs1002726225
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu) rs780196850
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del) rs754571796
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile) rs786205378
NM_001267550.2(TTN):c.7807A>G (p.Thr2603Ala) rs775528928
NM_001267550.2(TTN):c.7862C>T (p.Ala2621Val) rs753441258
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln) rs754878387
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu) rs727505061
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu) rs1377015752
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln) rs727504735
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile) rs757768218
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly) rs794729512
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup) rs773439628
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) rs753766297
NM_001267550.2(TTN):c.83165T>G (p.Ile27722Arg) rs794729515
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe) rs753201539
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His) rs1181280302
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del) rs753636173
NM_001267550.2(TTN):c.88010-2dup rs1701799962
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.88280G>A (p.Gly29427Glu) rs1188741659
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys) rs1553545836
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys) rs879222602
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu) rs200639218
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly) rs1700105269
NM_001267550.2(TTN):c.89711G>T (p.Arg29904Leu) rs397517744
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly) rs769360937
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg) rs397517751
NM_001267550.2(TTN):c.91271-20C>A rs1461887959
NM_001267550.2(TTN):c.92991T>C (p.Thr30997=) rs1553531443
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=) rs1489398531
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr) rs1246425366
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=) rs771653811
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg) rs1553527043
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met) rs956461857
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr) rs766499138
NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn) rs886042542
NM_001267550.2(TTN):c.9839C>A (p.Ser3280Tyr) rs747768723
NM_001267550.2(TTN):c.9875A>G (p.Gln3292Arg) rs794729586
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly) rs1172364516
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter) rs730881120
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs) rs1259701355
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn) rs1553282768
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val) rs397516458
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=) rs397516459
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln) rs1316344347
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys) rs1553280112
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser) rs371384395
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg) rs757664792
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu) rs369682703
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser) rs375965591
NM_001277115.2(DNAH11):c.11968-1G>C rs1783569129
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.13113G>C (p.Pro4371=) rs148707462
NM_001277115.2(DNAH11):c.1710+1G>C rs1784326790
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=) rs570983771
NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro) rs369438218
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=) rs148926588
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=) rs114187147
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile) rs1022097029
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278293.3(ARL6):c.143T>A (p.Leu48His) rs895572972
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_001278716.2(FBXL4):c.929T>C (p.Leu310Pro) rs2128393288
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1081+16G>T rs748240651
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala) rs140149634
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val) rs140149634
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.426G>T (p.Gly142=) rs143138564
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282534.2(KCNK9):c.932C>A (p.Ser311Ter) rs767838359
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287491.2(TET3):c.1189C>G (p.Pro397Ala) rs375606763
NM_001287491.2(TET3):c.1496C>T (p.Pro499Leu) rs200362611
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) rs540593191
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) rs149505716
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) rs749223361
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) rs782520163
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) rs781902168
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001291303.3(FAT4):c.5355T>G (p.Asp1785Glu) rs778606448
NM_001291303.3(FAT4):c.7466C>A (p.Ala2489Glu) rs144853732
NM_001291415.2(KDM6A):c.1475G>T (p.Ser492Ile) rs2147969832
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln) rs797045739
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.413_414del (p.Lys138fs) rs2142182514
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303052.2(MYT1L):c.3033A>T (p.Gly1011=) rs6728368
NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup) rs148009982
NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn) rs149351193
NM_001318510.2(ACSL4):c.1561G>A (p.Asp521Asn) rs1556225792
NM_001318510.2(ACSL4):c.517-24dup rs201395146
NM_001320198.2(KRT86):c.1053T>C (p.Ala351=) rs28733260
NM_001320752.2(STS):c.259+8_259+10del rs773065157
NM_001322934.2(NFKB2):c.*76C>T
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330588.2(TPP2):c.82T>G (p.Cys28Gly) rs1879008406
NM_001330691.3(CEP78):c.106G>A (p.Ala36Thr) rs778003732
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg) rs746655221
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001348768.2(HECW2):c.1091G>T (p.Ser364Ile) rs887985686
NM_001349206.2(LPIN1):c.110G>A (p.Arg37His) rs774490262
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) rs781748056
NM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met) rs1340968307
NM_001349206.2(LPIN1):c.1807-18del rs773751369
NM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met) rs1364674031
NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val) rs757007907
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354768.3(NRL):c.-28+11215dup rs61497654
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) rs114183703
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001356.5(DDX3X):c.1171-8dup rs747987697
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) rs567333444
NM_001358921.2(COQ2):c.-2C>G rs573669024
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.542+12G>A rs369421547
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) rs1565584679
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val) rs1244124212
NM_001360.3(DHCR7):c.12A>G (p.Lys4=) rs757934834
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.237T>C (p.His79=) rs1316013264
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr) rs146867923
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.963+2T>G rs1057517070
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363118.2(SLC52A2):c.1259C>T (p.Ala420Val) rs1554854637
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) rs78020568
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg) rs779459076
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.316+1G>A rs1462170681
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) rs1057516456
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=) rs6457479
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) rs762130701
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001365536.1(SCN9A):c.2874+11_2874+13del
NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala) rs753287730
NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile) rs779738791
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_001365999.1(SZT2):c.3019A>T (p.Met1007Leu) rs2153933173
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001366385.1(CARD14):c.173T>C (p.Leu58Pro) rs2144150792
NM_001366385.1(CARD14):c.2219+14T>G rs8069255
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) rs1300664235
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=) rs572061351
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=) rs781553869
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg) rs386794006
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367823.1(ARHGEF18):c.1105G>C (p.Gly369Arg) rs115555106
NM_001368067.1(LDB3):c.849C>T (p.Ser283=) rs1846156972
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg) rs886038209
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368882.1(COL13A1):c.999+5G>A rs200322111
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln) rs202169624
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe) rs1775975227
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr) rs1773692803
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile) rs1772373275
NM_001369.3(DNAH5):c.3598+1G>A rs2151920209
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) rs769582678
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=) rs970611077
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile) rs1000047685
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs) rs1757084798
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.9721-8del rs560450857
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) rs771715883
NM_001369268.1(ACAN):c.7358A>T (p.Asp2453Val) rs879255506
NM_001370100.5(ZMYND11):c.697+15_697+16insGTTTT rs1554788985
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser) rs104895429
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly) rs1964529815
NM_001370595.2(COA8):c.106G>T (p.Asp36Tyr)
NM_001370595.2(COA8):c.123+10G>A rs751821020
NM_001370595.2(COA8):c.123+10G>C rs751821020
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370595.2(COA8):c.40C>T (p.Pro14Ser) rs2274268
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001371333.1(DIABLO):c.51-318dup rs5801478
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371727.1(GABRB2):c.578G>A (p.Arg193His) rs373324958
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) rs3135506
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371986.1(UNC80):c.7806-17AT[7] rs752949976
NM_001371986.1(UNC80):c.9119-1_9119insGAG rs1559437278
NM_001372.4(DNAH9):c.10971+10_10971+12del rs112708007
NM_001372.4(DNAH9):c.308del (p.Phe103fs) rs769795916
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=) rs369302647
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=) rs1372051364
NM_001372066.1(TFAP2A):c.860A>G (p.Asn287Ser) rs1021266565
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) rs1245057200
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val) rs1793524609
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter) rs1560667389
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp) rs754712755
NM_001376.5(DYNC1H1):c.13515+19dup rs774180410
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met) rs751865408
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly) rs773630385
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>T rs773101138
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs) rs2060017974
NM_001377142.1(PLCB4):c.2331G>C (p.Pro777=) rs147575829
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) rs1352862206
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu) rs116079347
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys) rs1674404167
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp) rs1195894910
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys) rs867586310
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg) rs139425340
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val) rs1350031802
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His) rs1403094265
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg) rs893243465
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=) rs1357578376
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys) rs2104104820
NM_001378454.1(ALMS1):c.10735G>C (p.Asp3579His) rs1450650278
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg) rs1240495775
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys) rs397514576
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His) rs200464290
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=) rs1430075527
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His) rs777251736
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys) rs909204912
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn) rs761539239
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile) rs776648380
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=) rs767848384
NM_001378454.1(ALMS1):c.11669-3C>T rs767901840
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys) rs577759803
NM_001378454.1(ALMS1):c.11872+12A>G rs193922691
NM_001378454.1(ALMS1):c.11872+9C>G rs768886966
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln) rs768365250
NM_001378454.1(ALMS1):c.12090_12101del (p.Pro4031_Arg4034del) rs1245181381
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg) rs1057524132
NM_001378454.1(ALMS1):c.12115-8dup rs748193431
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_001378454.1(ALMS1):c.1237+4A>G rs747868844
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs) rs776401197
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu) rs1396189205
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val) rs745737550
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr) rs776104521
NM_001378454.1(ALMS1):c.1724_1725delinsCTAGT (p.His575delinsProSer) rs1064795650
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn) rs2103772404
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu) rs2103772890
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg) rs1558647685
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.2137T>C (p.Ser713Pro) rs1248095655
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=) rs2103774306
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn) rs2103774719
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2849T>C (p.Val950Ala) rs374139959
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile) rs757088179
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=) rs766133181
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn) rs1254282900
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=) rs2103675459
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp) rs1553403697
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=) rs1671901472
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro) rs767729719
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His) rs745335322
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr) rs1264554750
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe) rs373453289
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala) rs2103783756
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala) rs935791709
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu) rs2103701341
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup) rs1491245339
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=) rs755418143
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del) rs2103786773
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn) rs1671968768
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn) rs1671969063
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe) rs946232848
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg) rs1442336894
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His) rs6546839
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala) rs2103710477
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.7004A>T (p.Asp2335Val) rs771422712
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val) rs1672001133
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr) rs202060439
NM_001378454.1(ALMS1):c.765-15_765-12del rs1432858141
NM_001378454.1(ALMS1):c.7674+3A>G rs1553404673
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg) rs772417159
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) rs1269143077
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs) rs1182262187
NM_001378454.1(ALMS1):c.8126A>G (p.Lys2709Arg) rs761242664
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=) rs1488100564
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys) rs1670512542
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=) rs1041301597
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=) rs2103891896
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His) rs1022866808
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu) rs199899389
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=) rs541511993
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile) rs1320008798
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val) rs767987000
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7809-6del rs746074258
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val) rs16892095
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val) rs747187783
NM_001378615.1(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT rs750398145
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) rs369361457
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) rs976664434
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) rs1447493103
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) rs923682288
NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) rs1298355353
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser) rs747949999
NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met) rs774280190
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser) rs564039071
NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr) rs547296209
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=) rs561131255
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.483C>T (p.Phe161=) rs540878376
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=) rs775863172
NM_001379081.2(FREM1):c.5335-11del rs140882884
NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp) rs200489692
NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile) rs886063764
NM_001379081.2(FREM1):c.922G>C (p.Asp308His) rs764642854
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) rs1288296547
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) rs1601282938
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001379451.1(BCORL1):c.3575C>G (p.Ser1192Cys) rs373723553
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001379500.1(COL18A1):c.2824_2838del (p.Gly942_Pro946del)
NM_001379500.1(COL18A1):c.3495+14C>G rs191291169
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup rs373720521
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met) rs747842788
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro) rs140904207
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.6050-7A>G rs907689730
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001384479.1(AGT):c.374T>C rs1558288088
NM_001384479.1(AGT):c.906C>A rs776504572
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=) rs761587080
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1522-16dup rs370335300
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) rs1194762831
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) rs1002297986
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) rs2150434091
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) rs1487026046
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.2746+15_2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16dup rs751625561
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3673-8_3673-4del rs1163206555
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del) rs566159499
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) rs2151179962
NM_001384732.1(CPLANE1):c.5040A>T (p.Leu1680Phe) rs1783124765
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) rs2151150270
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys) rs763933855
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr) rs1218344038
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) rs538086941
NM_001384732.1(CPLANE1):c.699T>C (p.His233=) rs762115051
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7534-4_7534-3del rs1381389715
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) rs988332114
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8011+12del rs774770884
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8374-13G>T rs771664716
NM_001384732.1(CPLANE1):c.8462-6G>C rs1029215971
NM_001384732.1(CPLANE1):c.8664-19A>G rs2150360134
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val) rs2104734977
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val) rs375890182
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys) rs1056234449
NM_001388492.1(HTT):c.99_100del (p.Gln34fs)
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001395656.1(ROBO2):c.1244-1G>A rs1268364860
NM_001395656.1(ROBO2):c.1596G>A (p.Pro532=) rs779025170
NM_001395656.1(ROBO2):c.3243C>G (p.Pro1081=) rs377172589
NM_001395656.1(ROBO2):c.371C>T (p.Ala124Val) rs762759644
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001395891.1(CLASP1):c.196-679dup rs542752836
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001440.4(EXTL3):c.2277-15_2277-3dup rs756857596
NM_001448.3(GPC4):c.320-15del rs57898529
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3]) rs1462344492
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val) rs1056318557
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del) rs1208223684
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs) rs1762565496
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del) rs567719270
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del) rs761199025
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup) rs761199025
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) rs755928543
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) rs886044175
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys) rs372497581
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr) rs375881193
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln) rs201905890
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala) rs774963796
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) rs765300084
NM_001458.5(FLNC):c.2008-6G>A rs577813339
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr) rs774194364
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val) rs758056957
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe) rs1585159401
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp) rs371483562
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His) rs143623535
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del) rs1312829675
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) rs1585168080
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser) rs371455516
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) rs1350832784
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile) rs758080422
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln) rs1585173273
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) rs2128940705
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1159+19A>G rs187979088
NM_001482.3(GATM):c.576G>A (p.Glu192=) rs759135975
NM_001482.3(GATM):c.684C>T (p.Pro228=) rs1251849022
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.814-17C>G rs368314780
NM_001482.3(GATM):c.930C>T (p.Ile310=) rs2140641456
NM_001482.3(GATM):c.979-18dup rs202176047
NM_001486.4(GCKR):c.17_22dup (p.Arg6_Phe7dup) rs748731892
NM_001486.4(GCKR):c.740C>T (p.Pro247Leu) rs148025735
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_001572.5(IRF7):c.738_750del (p.Gly247fs) rs779826882
NM_001605.3(AARS1):c.-21-11dup rs756492963
NM_001609.4(ACADSB):c.653dup (p.Val219fs) rs755014798
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys) rs931778512
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1320+1G>C rs1791277284
NM_001680.5(FXYD2):c.198G>A (p.Pro66=) rs149353193
NM_001680.5(FXYD2):c.198G>T (p.Pro66=) rs149353193
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs) rs1680634325
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs) rs1553416787
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.172A>C (p.Lys58Gln) rs1553416813
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=) rs375489300
NM_001692.4(ATP6V1B1):c.1A>C (p.Met1Leu) rs1553415231
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_001692.4(ATP6V1B1):c.367+10A>T rs1572919668
NM_001692.4(ATP6V1B1):c.367+20A>T rs1572919684
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=) rs2104827670
NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met) rs1558679896
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001735.3(C5):c.1287G>A (p.Thr429=) rs145139701
NM_001735.3(C5):c.1506+17G>T rs182918168
NM_001735.3(C5):c.1759A>T (p.Thr587Ser) rs2047317447
NM_001735.3(C5):c.2563-15_2563-14delinsAT rs2131724100
NM_001735.3(C5):c.2627A>G (p.Gln876Arg) rs2047128695
NM_001735.3(C5):c.2827A>G (p.Thr943Ala) rs2047115852
NM_001735.3(C5):c.3231-4A>C rs777774046
NM_001735.3(C5):c.3676C>T (p.Arg1226Cys) rs537101618
NM_001735.3(C5):c.4143C>A (p.Ile1381=) rs150804933
NM_001735.3(C5):c.4652C>T (p.Thr1551Ile) rs138510251
NM_001735.3(C5):c.4932G>C (p.Trp1644Cys) rs2131656978
NM_001735.3(C5):c.584+18T>C rs773328492
NM_001735.3(C5):c.813A>G (p.Ile271Met) rs2131788839
NM_001735.3(C5):c.892C>G (p.Gln298Glu) rs149346283
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001737.5(C9):c.1677del (p.Lys559fs) rs762159491
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) rs2119070291
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2734-18C>T rs570573455
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001845.6(COL4A1):c.1084+20C>T rs756740376
NM_001845.6(COL4A1):c.1286-18_1286-17del rs769629668
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=) rs2139164290
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.3198+9C>A rs112120233
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=) rs752732736
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=) rs1339688171
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.958-10T>C rs766495795
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=) rs2077865473
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001851.6(COL9A1):c.2079+7dup rs552585742
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) rs150687987
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.792+19G>A rs115466848
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001873.4(CPE):c.505-3dup rs754217127
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.3336+1G>A rs1700437565
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln) rs878856345
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001903.5(CTNNA1):c.588+4_588+5del rs147724289
NM_001903.5(CTNNA1):c.793G>T (p.Asp265Tyr) rs1760467219
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg) rs1376864427
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys) rs2125168717
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.182G>A (p.Gly61Asp) rs1447436485
NM_001927.4(DES):c.245C>T (p.Ser82Phe) rs1358038961
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.404C>G (p.Ala135Gly) rs546741834
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.494A>G (p.Gln165Arg) rs1369044757
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del) rs60216939
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup) rs60216939
NM_001942.4(DSG1):c.2622C>T (p.Gly874=) rs149729348
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1811A>G (p.His604Arg) rs1359949181
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) rs771675609
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) rs746359987
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met) rs776686758
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr) rs1478351535
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser) rs2073152820
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001957.4(EDNRA):c.1034+19G>A rs10305924
NM_001957.4(EDNRA):c.748-19_748-18insCT rs71594223
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) rs1560698635
NM_001963.6(EGF):c.940+11_940+12inv
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.619G>C (p.Val207Leu) rs2035674003
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys) rs1199450063
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7841-14G>A rs751308498
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.322-10G>A rs368874580
NM_002067.5(GNA11):c.889+5G>A rs768590899
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) rs543578531
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) rs5455
NM_002150.3(HPD):c.325-19G>C rs200528285
NM_002156.5(HSPD1):c.445G>C (p.Asp149His) rs781225976
NM_002160.4(TNC):c.6099C>T (p.Arg2033=) rs58547879
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002204.4(ITGA3):c.*14C>G rs187586850
NM_002204.4(ITGA3):c.1392C>T (p.Pro464=) rs1126539
NM_002204.4(ITGA3):c.1509C>T (p.Ala503=) rs192121420
NM_002204.4(ITGA3):c.1597G>A (p.Gly533Ser) rs377600580
NM_002204.4(ITGA3):c.1675-8C>T rs373834648
NM_002204.4(ITGA3):c.1764G>A (p.Leu588=) rs1321089081
NM_002204.4(ITGA3):c.2289G>T (p.Ser763=) rs143126480
NM_002204.4(ITGA3):c.2920-8C>G rs545444575
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002234.4(KCNA5):c.*782G>A rs189015926
NM_002234.4(KCNA5):c.1043G>A (p.Ser348Asn) rs755829081
NM_002234.4(KCNA5):c.1084G>A (p.Val362Met) rs776815613
NM_002234.4(KCNA5):c.1681G>C (p.Gly561Arg) rs1440776773
NM_002234.4(KCNA5):c.1704dup (p.Thr569fs) rs1565466174
NM_002234.4(KCNA5):c.1826G>C (p.Arg609Pro) rs991950771
NM_002234.4(KCNA5):c.403_405del (p.Leu135del) rs1451178605
NM_002234.4(KCNA5):c.459_460delinsAA (p.Arg154Ser) rs1862749418
NM_002234.4(KCNA5):c.847C>T (p.Arg283Cys) rs886049575
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) rs1565465582
NM_002234.4(KCNA5):c.964G>C (p.Asp322His) rs139614200
NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) rs1648629565
NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) rs17853258
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) rs1378425325
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_002246.3(KCNK3):c.827G>A (p.Gly276Asp) rs556393203
NM_002246.3(KCNK3):c.853G>A (p.Ala285Thr) rs768231464
NM_002246.3(KCNK3):c.99C>G (p.Pro33=) rs528661453
NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup) rs3831942
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.1519-6G>A rs755545118
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=) rs760427008
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln) rs2107645705
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys) rs369408727
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro) rs369063535
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His) rs764955129
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr) rs1481245527
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg) rs950013669
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr) rs751697643
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg) rs2045392366
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val) rs1447852720
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys) rs1560071889
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg) rs1575531255
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.762G>A (p.Thr254=) rs201406827
NM_002292.4(LAMB2):c.903T>A (p.His301Gln) rs565877727
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser) rs1288096114
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.2428G>A (p.Val810Ile) rs1246395979
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174
NM_002335.4(LRP5):c.1015+19_1015+23del rs761661947
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1887C>T (p.Ile629=) rs140958524
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.201A>C (p.Ala67=) rs540291726
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2334C>T (p.Thr778=) rs753035383
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2504-16GT[3] rs531798381
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) rs772416019
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3638-19T>C rs1591317491
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496
NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) rs1591901585
NM_002340.6(LSS):c.181-27dup rs10550493
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996
NM_002435.3(MPI):c.*129G>C rs80226376
NM_002435.3(MPI):c.345+15_345+16delinsAT rs1064794476
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002439.5(MSH3):c.1454-5del rs780632399
NM_002458.3(MUC5B):c.13164G>T (p.Thr4388=) rs370908099
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002471.4(MYH6):c.1002+1G>T rs776627067
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys) rs768924353
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu) rs201822160
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn) rs777651128
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met) rs142410102
NM_002471.4(MYH6):c.1793dup (p.Asn598fs) rs774500922
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe) rs764362016
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn) rs757559746
NM_002471.4(MYH6):c.2051-2A>G rs2138604704
NM_002471.4(MYH6):c.2293-2A>C rs2138603387
NM_002471.4(MYH6):c.2428A>G (p.Arg810Gly) rs1060501428
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met) rs150675144
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys) rs1025146248
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.325T>C (p.Tyr109His) rs926609805
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=) rs564367705
NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln) rs1033416176
NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys) rs767223211
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val) rs1038940910
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp) rs2277473
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) rs137983703
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu) rs1555333437
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) rs200884672
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn) rs1390751455
NM_002471.4(MYH6):c.5662-2A>G rs2138578417
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val) rs762923098
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) rs1404018896
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960
NM_002471.4(MYH6):c.730C>T (p.Arg244Cys) rs759116118
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter) rs186265521
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) rs757850500
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) rs770864107
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) rs959272684
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) rs778278736
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) rs1455355336
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002474.3(MYH11):c.1047G>A (p.Val349=) rs765006823
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala) rs886038993
NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala) rs1555563221
NM_002474.3(MYH11):c.1402-8G>C rs529694413
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.1908G>A (p.Glu636=) rs1312174913
NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys) rs1160451543
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu) rs764831521
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr) rs1393414333
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn) rs2041282747
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) rs142128375
NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly) rs2151248171
NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln) rs2151248140
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr) rs2041152851
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp) rs1451959711
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val) rs886038854
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys) rs1057347498
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu) rs111940956
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln) rs1473608237
NM_002474.3(MYH11):c.391C>G (p.Leu131Val) rs111247524
NM_002474.3(MYH11):c.397A>G (p.Ile133Val) rs2043468274
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) rs147127121
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys) rs769202751
NM_002474.3(MYH11):c.530C>T (p.Thr177Ile) rs2042809404
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) rs751495086
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) rs553162576
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.589G>A (p.Val197Met) rs1397436456
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala) rs752441599
NM_002474.3(MYH11):c.754G>A (p.Val252Ile) rs772078130
NM_002474.3(MYH11):c.817C>T (p.Arg273Cys) rs1490228863
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002500.5(NEUROD1):c.*1A>G
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val) rs774325551
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu) rs1013787986
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln) rs553756272
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del) rs1190828671
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg) rs758515206
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His) rs1559135426
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn) rs201174472
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp) rs201174472
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser) rs1029071008
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys) rs773755753
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278
NM_002529.4(NTRK1):c.1039C>T (p.Arg347Cys) rs561243137
NM_002576.5(PAK1):c.428T>C (p.Met143Thr) rs1949512290
NM_002585.4(PBX1):c.265+1G>A rs2101688490
NM_002585.4(PBX1):c.266-15_266-14insTT rs139680846
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys) rs867345397
NM_002661.5(PLCG2):c.2055-8_2055-7inv
NM_002661.5(PLCG2):c.2090G>A (p.Arg697Gln) rs767717794
NM_002661.5(PLCG2):c.2236-14C>T rs12446127
NM_002661.5(PLCG2):c.3053-8C>A rs1267501546
NM_002661.5(PLCG2):c.3075C>G (p.His1025Gln) rs368241065
NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=) rs200366770
NM_002661.5(PLCG2):c.324G>C (p.Thr108=) rs189282309
NM_002661.5(PLCG2):c.3285CAA[2] (p.Asn1097del) rs749338323
NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala) rs762731399
NM_002661.5(PLCG2):c.3747C>G (p.Cys1249Trp) rs1197295448
NM_002661.5(PLCG2):c.3756-20T>A rs762802134
NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg) rs752018966
NM_002661.5(PLCG2):c.540C>G (p.Ala180=) rs150276286
NM_002661.5(PLCG2):c.540C>T (p.Ala180=) rs150276286
NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu) rs190687540
NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys) rs1908633748
NM_002661.5(PLCG2):c.942G>A (p.Met314Ile) rs1555517092
NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly) rs774130423
NM_002691.4(POLD1):c.1366C>G (p.Gln456Glu) rs878854520
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.223A>G (p.Ile75Val) rs940296193
NM_002691.4(POLD1):c.2959dup rs756872503
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg) rs1060501837
NM_002691.4(POLD1):c.343C>T (p.Pro115Ser) rs754917939
NM_002691.4(POLD1):c.364G>A (p.Val122Met) rs141579552
NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) rs1295943468
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3274-8C>T rs1184674847
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del) rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu) rs1568696484
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile) rs773162575
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His) rs2143324114
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met) rs1329426125
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002769.5(PRSS1):c.347G>A (p.Arg116His) rs199769221
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002838.5(PTPRC):c.2848-4del rs57296163
NM_002838.5(PTPRC):c.2848-5_2848-4del rs57296163
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002878.4(RAD51D):c.215del (p.Tyr72fs) rs2142474090
NM_002878.4(RAD51D):c.265C>T (p.Leu89Phe) rs2142437449
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.680T>C (p.Met227Thr) rs773485482
NM_002878.4(RAD51D):c.874A>G (p.Met292Val) rs1555567076
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) rs769713780
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys) rs2112495755
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) rs140180881
NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu) rs150467434
NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter) rs104894535
NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu) rs201203066
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) rs377652797
NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val) rs1962322854
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) rs748243732
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr) rs1553687887
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003060.4(SLC22A5):c.*678G>T rs148673968
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met) rs183379391
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu) rs386134193
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.497+2T>A rs1752229268
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu) rs775430253
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del) rs1561574113
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys) rs1436490540
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile) rs1555788341
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser) rs1555753727
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003098.3(SNTA1):c.*412G>C rs566401281
NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs) rs775891730
NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) rs533902889
NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly) rs1390997295
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn) rs1430826527
NM_003114.5(SPAG1):c.1282_1294del (p.Ala428fs) rs973819096
NM_003114.5(SPAG1):c.1285_1294dup (p.Ala432fs) rs918324226
NM_003114.5(SPAG1):c.2726del (p.Asn909fs) rs777302538
NM_003114.5(SPAG1):c.422G>A (p.Gly141Asp) rs1345807674
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_003184.4(TAF2):c.1684-17C>T rs118105771
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.312del (p.Lys104fs) rs771157811
NM_003193.5(TBCE):c.898+6T>C rs759799813
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003238.6(TGFB2):c.*1233dup rs532376886
NM_003238.6(TGFB2):c.-1278AAGAGA[3] rs886045957
NM_003238.6(TGFB2):c.-45del rs200186989
NM_003238.6(TGFB2):c.-652GCACAC[3] rs765496001
NM_003238.6(TGFB2):c.-699A>C rs886045961
NM_003238.6(TGFB2):c.154A>G (p.Ser52Gly) rs771351240
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser) rs747128130
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr) rs765477784
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu) rs1553292141
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly) rs759729701
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs) rs79375991
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly) rs758703490
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) rs753184709
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr) rs1553630181
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val) rs781018006
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003280.3(TNNC1):c.175dup (p.Glu59fs) rs1060502609
NM_003280.3(TNNC1):c.202G>A (p.Gly68Ser) rs1267940563
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del) rs199474801
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003327.4(TNFRSF4):c.146-2A>G rs983879173
NM_003327.4(TNFRSF4):c.371-16C>T rs34108055
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003356.4(UCP3):c.63C>G (p.Gly21=) rs181883754
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp) rs138178893
NM_003361.4(UMOD):c.114T>C (p.Asn38=) rs766555124
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp) rs762973149
NM_003361.4(UMOD):c.1195del (p.His399fs) rs780493255
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1577+11G>A rs184055420
NM_003361.4(UMOD):c.165C>T (p.Gly55=) rs1478057939
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) rs1965761636
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003361.4(UMOD):c.272_274del (p.Ser91del) rs1965755740
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.555C>T (p.Arg185=) rs866510195
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003392.7(WNT5A):c.-6C>A rs372156419
NM_003392.7(WNT5A):c.290C>T (p.Ala97Val) rs2051414784
NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala) rs886058744
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003401.5(XRCC4):c.265del (p.Ser89fs) rs772562216
NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu) rs768175717
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs) rs1573613529
NM_003470.3(USP7):c.3202+20dup rs3214650
NM_003476.4(CSRP3):c.-195G>A rs569978006
NM_003476.5(CSRP3):c.*159C>T rs886048095
NM_003476.5(CSRP3):c.*559G>A rs45606836
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) rs139805841
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) rs139805841
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp) rs1253887422
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) rs777211110
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val) rs753711278
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) rs876657767
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003482.4(KMT2D):c.11202GCA[5] (p.Gln3744_Gln3745del) rs398123707
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) rs771787499
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.4(KMT2D):c.3237_3238delinsCC (p.Glu1080Gln) rs2120649248
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly) rs751508677
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) rs2087181118
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000
NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) rs1692622022
NM_003590.5(CUL3):c.532G>A (p.Val178Ile) rs1200173088
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val) rs964899969
NM_003597.5(KLF11):c.1050G>A (p.Pro350=) rs145193520
NM_003597.5(KLF11):c.42+18C>G rs1476684022
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr) rs2147032761
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly) rs2047794483
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=) rs141352323
NM_003638.3(ITGA8):c.1400-11G>A rs9333267
NM_003640.5(ELP1):c.116A>G (p.His39Arg) rs2132052820
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) rs571143526
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) rs1388151143
NM_003640.5(ELP1):c.1644-13dup rs756059162
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu) rs199555804
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe) rs1828805989
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile) rs1828721515
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2283+11_2283+15del rs778115996
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) rs546587836
NM_003640.5(ELP1):c.2501+4T>G rs1405951778
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) rs780726202
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.2908T>C (p.Leu970=) rs180931232
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu) rs1828328786
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser) rs1296107083
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_003640.5(ELP1):c.958+19_958+20delinsAT rs2132024951
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) rs750663365
NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs) rs764747885
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly) rs775804689
NM_003647.3(DGKE):c.427C>T (p.Gln143Ter) rs1340500871
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.62_65dup (p.Ile23fs) rs1214440741
NM_003647.3(DGKE):c.995T>C (p.Val332Ala) rs1907467218
NM_003661.4(APOL1):c.1181C>G (p.Ala394Gly) rs138178894
NM_003661.4(APOL1):c.188-14T>A rs136163
NM_003661.4(APOL1):c.188-14T>G rs136163
NM_003661.4(APOL1):c.314+14G>T rs370874898
NM_003661.4(APOL1):c.945T>G (p.Gly315=) rs1603482264
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val) rs2057251619
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg) rs1355624192
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser) rs761498487
NM_003673.4(TCAP):c.478A>G (p.Met160Val) rs1057106389
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro) rs1555606961
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1]) rs768891033
NM_003835.4(RGS9):c.1867C>T (p.Arg623Ter) rs370466986
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser) rs766330561
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) rs375421867
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003924.4(PHOX2B):c.242-5_242-2dup rs1553898065
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup) rs760638643
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg) rs1462459716
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser) rs11568424
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_003982.4(SLC7A7):c.1095+14A>G rs2139386863
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys) rs1160393188
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His) rs201305817
NM_003982.4(SLC7A7):c.1245+10C>T rs531427504
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly) rs1055499594
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys) rs375791337
NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe) rs750589845
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg) rs1064797037
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=) rs1473768240
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly) rs2139397401
NM_003982.4(SLC7A7):c.625+18T>C rs974421997
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter) rs2138663895
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser) rs1409622896
NM_003982.4(SLC7A7):c.999-16A>G rs1594944509
NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser) rs1828095529
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10554-29_10554-20del rs200138464
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu) rs763144501
NM_004006.3(DMD):c.11031A>G (p.Gly3677=) rs2147665754
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) rs2149350253
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.1788G>A (p.Met596Ile) rs2052669244
NM_004006.3(DMD):c.1826A>G (p.Asp609Gly) rs2149095572
NM_004006.3(DMD):c.1851G>A (p.Met617Ile) rs1238073206
NM_004006.3(DMD):c.1915A>C (p.Lys639Gln) rs2149094935
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly) rs750526692
NM_004006.3(DMD):c.2328A>G (p.Lys776=) rs1603634973
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) rs794727226
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro) rs2040288189
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3190A>G (p.Met1064Val) rs1281398911
NM_004006.3(DMD):c.365A>C (p.Asn122Thr) rs1603437369
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu) rs2098269308
NM_004006.3(DMD):c.4477G>A (p.Val1493Met) rs2097986154
NM_004006.3(DMD):c.4741A>G (p.Asn1581Asp) rs727503831
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp) rs886044407
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile) rs2147259228
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5922+3G>C rs398124000
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn) rs1060502614
NM_004006.3(DMD):c.7514A>T (p.Asp2505Val) rs2090505173
NM_004006.3(DMD):c.803T>C (p.Leu268Ser) rs939491009
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly) rs886043271
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser) rs2067958322
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004006.3(DMD):c.960G>A (p.Gln320=) rs772656026
NM_004048.4(B2M):c.67+1G>T rs863225287
NM_004064.5(CDKN1B):c.272C>G (p.Pro91Arg) rs768793049
NM_004064.5(CDKN1B):c.536C>T (p.Pro179Leu) rs745415005
NM_004069.6(AP2S1):c.4-14_4-12del rs373163721
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004113.6(FGF12):c.229-8dup rs34265167
NM_004130.4(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) rs770866830
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) rs779027774
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) rs192818312
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.169G>T (p.Val57Leu) rs1060503724
NM_004168.4(SDHA):c.204C>T (p.Gly68=) rs1055082816
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.365A>G (p.His122Arg) rs1579384131
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp) rs1192077362
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.559C>T (p.His187Tyr) rs1579385898
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004168.4(SDHA):c.997G>C (p.Val333Leu) rs1062468
NM_004181.5(UCHL1):c.*250T>C rs564857603
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro) rs267607232
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs) rs763249105
NM_004268.5(MED17):c.1360C>T (p.Arg454Ter) rs776884086
NM_004268.5(MED17):c.325A>C (p.Met109Leu) rs144529403
NM_004281.4(BAG3):c.-319C>T rs987450541
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del) rs761727804
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly) rs1847245034
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu) rs139125612
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg) rs1846845477
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser) rs747274078
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del) rs763170019
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys) rs201487919
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) rs779282861
NM_004304.5(ALK):c.1343T>A (p.Val448Asp) rs1425828384
NM_004304.5(ALK):c.3178C>T (p.Arg1060Cys) rs774836034
NM_004304.5(ALK):c.4677del (p.Ser1560fs) rs2148137540
NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del) rs3832799
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004329.3(BMPR1A):c.340C>G (p.Pro114Ala) rs1554888960
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004356.4(CD81):c.459+4C>T rs116421908
NM_004357.5(CD151):c.16G>A (p.Glu6Lys) rs371206840
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile) rs587782189
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn) rs2152135021
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe) rs1567512154
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser) rs35187787
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp) rs1060501218
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly) rs878854684
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg) rs1967183728
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) rs1728346222
NM_004366.6(CLCN2):c.1856-11G>C rs200595019
NM_004366.6(CLCN2):c.2415+4_2415+5dup rs146494980
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004371.4(COPA):c.480C>T (p.Arg160=) rs369092759
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) rs760292945
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) rs746121736
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) rs863223334
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070
NM_004385.5(VCAN):c.10157G>A (p.Arg3386His) rs370521277
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004407.4(DMP1):c.1534G>A (p.Gly512Ser) rs377414504
NM_004407.4(DMP1):c.1538A>G (p.Tyr513Cys) rs1264750963
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) rs796051959
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004456.5(EZH2):c.118-18_118-16del rs775795844
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del) rs71369530
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004482.4(GALNT3):c.1626+6C>T rs774391241
NM_004482.4(GALNT3):c.897G>T (p.Thr299=) rs75931918
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr) rs2071153064
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu) rs2076562505
NM_004484.4(GPC3):c.1562G>A (p.Arg521His) rs2069915768
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5dup rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys) rs903266102
NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) rs1554625699
NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu) rs201183533
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) rs1064796738
NM_004525.3(LRP2):c.10020G>C (p.Trp3340Cys) rs2105294700
NM_004525.3(LRP2):c.10155C>T (p.His3385=) rs765266983
NM_004525.3(LRP2):c.10202C>G (p.Thr3401Arg) rs200563635
NM_004525.3(LRP2):c.10211A>G (p.Asp3404Gly) rs146669420
NM_004525.3(LRP2):c.10792G>A (p.Glu3598Lys) rs866160148
NM_004525.3(LRP2):c.11014+4A>C rs2105281642
NM_004525.3(LRP2):c.11203C>T (p.Leu3735Phe) rs755720299
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.11399C>G (p.Pro3800Arg) rs911625687
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.11683C>T (p.Arg3895Cys) rs763655058
NM_004525.3(LRP2):c.1186A>G (p.Ile396Val) rs527397264
NM_004525.3(LRP2):c.11985C>T (p.Phe3995=) rs138867955
NM_004525.3(LRP2):c.1229A>G (p.His410Arg) rs1187695296
NM_004525.3(LRP2):c.12494G>A (p.Arg4165His) rs201763999
NM_004525.3(LRP2):c.12956G>A (p.Arg4319Gln) rs1685883691
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=) rs143254052
NM_004525.3(LRP2):c.13137C>G (p.Pro4379=) rs140160600
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=) rs780040199
NM_004525.3(LRP2):c.13433C>T (p.Thr4478Ile) rs1462115520
NM_004525.3(LRP2):c.13519-40CT[12] rs138614485
NM_004525.3(LRP2):c.13519-40CT[13] rs138614485
NM_004525.3(LRP2):c.13519-40CT[7] rs138614485
NM_004525.3(LRP2):c.13519-40CT[8] rs138614485
NM_004525.3(LRP2):c.13519-40CT[9] rs138614485
NM_004525.3(LRP2):c.13601A>C (p.Lys4534Thr) rs757334722
NM_004525.3(LRP2):c.13620+16G>A rs2105334637
NM_004525.3(LRP2):c.13812G>C (p.Glu4604Asp) rs932886306
NM_004525.3(LRP2):c.13830T>G (p.Ala4610=) rs2105322142
NM_004525.3(LRP2):c.13906T>A (p.Ser4636Thr) rs1024105423
NM_004525.3(LRP2):c.1593C>G (p.Ser531Arg) rs148996947
NM_004525.3(LRP2):c.1593C>T (p.Ser531=) rs148996947
NM_004525.3(LRP2):c.1870G>A (p.Val624Met) rs777288693
NM_004525.3(LRP2):c.1975+19G>A rs2105443566
NM_004525.3(LRP2):c.246C>T (p.Pro82=) rs1684836154
NM_004525.3(LRP2):c.3676C>A (p.Pro1226Thr) rs2105383842
NM_004525.3(LRP2):c.3724A>G (p.Ile1242Val) rs764203713
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) rs767869932
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-14_428-8del rs370823033
NM_004525.3(LRP2):c.428-18_428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004525.3(LRP2):c.4755C>A (p.Asp1585Glu) rs141871628
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His) rs587780385
NM_004525.3(LRP2):c.4999C>G (p.Arg1667Gly) rs867941074
NM_004525.3(LRP2):c.5113G>C (p.Ala1705Pro) rs193082017
NM_004525.3(LRP2):c.5206G>T (p.Asp1736Tyr) rs549532662
NM_004525.3(LRP2):c.538+19A>T rs2105472858
NM_004525.3(LRP2):c.5609T>C (p.Val1870Ala) rs148768434
NM_004525.3(LRP2):c.5609T>G (p.Val1870Gly) rs148768434
NM_004525.3(LRP2):c.5719G>A (p.Gly1907Ser) rs753578958
NM_004525.3(LRP2):c.573C>T (p.Gly191=) rs1254126085
NM_004525.3(LRP2):c.617A>T (p.Asn206Ile) rs772314601
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.6356C>T (p.Ala2119Val) rs2105337164
NM_004525.3(LRP2):c.6502G>A (p.Glu2168Lys) rs1014074124
NM_004525.3(LRP2):c.652+14T>A rs116358988
NM_004525.3(LRP2):c.652+14T>G rs116358988
NM_004525.3(LRP2):c.6784C>T (p.Arg2262Cys) rs751639325
NM_004525.3(LRP2):c.6785G>T (p.Arg2262Leu) rs201740125
NM_004525.3(LRP2):c.7208T>G (p.Leu2403Trp) rs1209440404
NM_004525.3(LRP2):c.7227C>A (p.Ser2409Arg) rs963561778
NM_004525.3(LRP2):c.770-5C>A rs180797349
NM_004525.3(LRP2):c.7716-13del rs754348745
NM_004525.3(LRP2):c.7716-13dup rs754348745
NM_004525.3(LRP2):c.7894A>C (p.Asn2632His) rs17848169
NM_004525.3(LRP2):c.7966G>A (p.Glu2656Lys) rs201403741
NM_004525.3(LRP2):c.80-14_80-11del rs777197536
NM_004525.3(LRP2):c.8015G>A (p.Gly2672Asp) rs1442964514
NM_004525.3(LRP2):c.8123C>T (p.Ser2708Phe) rs765246382
NM_004525.3(LRP2):c.8219C>T (p.Thr2740Ile) rs1688214550
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004525.3(LRP2):c.8352G>A (p.Thr2784=) rs200194530
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004525.3(LRP2):c.8892G>T (p.Arg2964Ser) rs149148763
NM_004525.3(LRP2):c.923-19del rs535311793
NM_004525.3(LRP2):c.974C>T (p.Pro325Leu) rs79877455
NM_004525.3(LRP2):c.9931T>C (p.Cys3311Arg) rs2105295973
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004553.6(NDUFS6):c.92G>T (p.Arg31Leu) rs770018272
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) rs200675570
NM_004560.4(ROR2):c.1412C>T (p.Ser471Phe) rs1564230209
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn) rs55651110
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) rs185808139
NM_004562.3(PRKN):c.*140A>G rs1182122095
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.172-38dup rs751742289
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004588.5(SCN2B):c.452C>A (p.Pro151His) rs765701955
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg) rs115353159
NM_004589.4(SCO1):c.261del (p.Ser88fs) rs770131276
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004589.4(SCO1):c.656-20C>G rs375940362
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) rs758280185
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) rs2118780957
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=) rs144085223
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu) rs371919016
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp) rs1858853619
NM_004621.6(TRPC6):c.2645-22_2645-20del rs59743346
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) rs201818043
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup) rs750450365
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) rs1829076408
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala) rs1288516919
NM_004629.2(FANCG):c.1157C>A (p.Pro386His) rs141147618
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln) rs1018027137
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr) rs1251259584
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe) rs1026058105
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu) rs149721361
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.833C>T (p.Ala278Val) rs771395169
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.1131C>T (p.Gly377=) rs1450827580
NM_004646.4(NPHS1):c.1296G>A (p.Ser432=) rs766646699
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.4(NPHS1):c.1931-16G>A rs1392236567
NM_004646.4(NPHS1):c.1935T>C (p.Arg645=) rs2146822391
NM_004646.4(NPHS1):c.2001C>T (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2259C>T (p.Val753=) rs766951918
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2927+2T>A rs1973023048
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.312C>T (p.Ser104=) rs114540811
NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=) rs1003131306
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3387+9G>A rs1381677154
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=) rs1324557507
NM_004646.4(NPHS1):c.3482-7A>C rs73928326
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.360C>G (p.Pro120=) rs371652869
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.415C>T (p.Leu139=) rs2146831286
NM_004646.4(NPHS1):c.429G>A (p.Glu143=) rs1173468417
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.570C>T (p.Gly190=) rs1475015789
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.86C>T (p.Ser29Phe) rs1339541913
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721
NM_004655.4(AXIN2):c.-116-13del rs530658215
NM_004655.4(AXIN2):c.118G>A (p.Val40Met) rs1555583743
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp) rs567511335
NM_004656.4(BAP1):c.1201_1203delinsGAG (p.Tyr401Glu) rs1553645128
NM_004656.4(BAP1):c.1740G>C (p.Lys580Asn) rs1438648758
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004736.4(XPR1):c.1135-8dup rs113553362
NM_004744.5(LRAT):c.382G>C (p.Asp128His) rs1732845050
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs) rs1060502224
NM_004836.7(EIF2AK3):c.1091ATG[2] (p.Asp366del) rs747505731
NM_004836.7(EIF2AK3):c.1265C>T (p.Ala422Val) rs947983532
NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly) rs770192517
NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val) rs540704378
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) rs2104414335
NM_004836.7(EIF2AK3):c.2092C>T (p.Arg698Cys) rs189064501
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) rs2104411903
NM_004836.7(EIF2AK3):c.2483A>G (p.His828Arg) rs369837691
NM_004836.7(EIF2AK3):c.2539TCT[2] (p.Ser849del) rs758593623
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser) rs755369984
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004836.7(EIF2AK3):c.511A>G (p.Met171Val) rs1425626815
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=) rs1674997611
NM_004836.7(EIF2AK3):c.86C>T (p.Ala29Val) rs529920914
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004937.3(CTNS):c.141-8C>T rs768912772
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn) rs148208826
NM_004944.4(DNASE1L3):c.112G>C (p.Asp38His) rs148208826
NM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu) rs374838291
NM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr) rs563166164
NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=) rs138720416
NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met) rs76440799
NM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly) rs202183427
NM_004958.4(MTOR):c.2331+6A>G rs761030701
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met) rs1441440583
NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs)
NM_004958.4(MTOR):c.348C>T (p.Pro116=) rs558389352
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3]) rs764571894
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr) rs372880204
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC rs2140317179
NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala) rs757642502
NM_004998.4(MYO1E):c.2878+18C>T rs759274124
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter) rs1427276872
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_005005.3(NDUFB9):c.-51A>G rs371001929
NM_005006.7(NDUFS1):c.154-13_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-33dup rs568965659
NM_005006.7(NDUFS1):c.154-9del rs568965659
NM_005026.5(PIK3CD):c.1339+4G>A rs751591906
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.4257T>C (p.His1419=) rs138924805
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn) rs768054802
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005051.3(QARS1):c.1561G>A (p.Ala521Thr) rs756375405
NM_005051.3(QARS1):c.769C>A (p.Leu257Met) rs1037854666
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005060.4(RORC):c.1535C>G (p.Ser512Ter) rs1420634082
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) rs753614511
NM_005138.3(SCO2):c.652dup (p.Gln218fs) rs2148670938
NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala) rs201278085
NM_005159.4(ACTC1):c.*388G>C rs1370154
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005184.4(CALM3):c.179-3del rs1446437806
NM_005188.4(CBL):c.-125_-116delinsT rs886047763
NM_005188.4(CBL):c.107ACC[6] (p.His42del) rs373212940
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) rs980503623
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln) rs143034856
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2435-1_2435del rs749424087
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) rs1950085952
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) rs376536789
NM_005215.4(DCC):c.2158C>T (p.Leu720=) rs138143831
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln) rs2128933753
NM_005235.3(ERBB4):c.1947-28dup rs57466272
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) rs764343290
NM_005249.5(FOXG1):c.436_438del (p.Glu146del) rs751048593
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005251.3(FOXC2):c.1169_1189del (p.Gln390_His396del) rs976840192
NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup) rs758855849
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.525G>T (p.Ala175=) rs759587190
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) rs753977266
NM_005359.6(SMAD4):c.-69G>A rs772186355
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) rs1568211184
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) rs1910526660
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) rs1568206043
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005378.6(MYCN):c.279G>A (p.Glu93=) rs151113760
NM_005378.6(MYCN):c.801_809del rs794727504
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005422.4(TECTA):c.102del (p.Asn34fs) rs2135050168
NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) rs544020042
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) rs1588292057
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly) rs202036216
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu) rs2043017188
NM_005477.3(HCN4):c.1090G>C (p.Asp364His) rs151004999
NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr) rs151004999
NM_005477.3(HCN4):c.1209+4A>G rs2043015976
NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro) rs752139441
NM_005477.3(HCN4):c.2878CCACCC[1] (p.Pro962_Pro963del) rs750207209
NM_005477.3(HCN4):c.2969C>G (p.Pro990Arg) rs755329686
NM_005477.3(HCN4):c.3014C>G (p.Ser1005Cys) rs780624939
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser) rs1158677290
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg) rs1419820366
NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg) rs758673317
NM_005477.3(HCN4):c.3394_3402dup (p.Ser1132_Gly1134dup) rs1290501532
NM_005477.3(HCN4):c.3495_3498del (p.Ser1166fs) rs2151213747
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005477.3(HCN4):c.3531del (p.Pro1179fs) rs749503920
NM_005477.3(HCN4):c.3536dup (p.Leu1180fs) rs1416588482
NM_005477.3(HCN4):c.358G>A (p.Gly120Arg) rs766202352
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup) rs957058060
NM_005477.3(HCN4):c.955G>A (p.Val319Met) rs773269320
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val) rs755903502
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met) rs1733110733
NM_005515.4(MNX1):c.1074GGACGA[2] (p.358ED[2]) rs763608839
NM_005515.4(MNX1):c.1081GACGAGGAC[1] (p.361DED[1]) rs762400153
NM_005515.4(MNX1):c.132CGG[8] (p.Gly47_Gly49dup) rs781217883
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) rs757330807
NM_005515.4(MNX1):c.375CGC[16] (p.Ala128_Ala134dup) rs548755417
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del) rs548755417
NM_005515.4(MNX1):c.504GGC[6] (p.Ala174dup) rs748208450
NM_005515.4(MNX1):c.808A>C (p.Lys270Gln) rs1191651587
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005548.3(KARS1):c.223-8_223-6del rs370077957
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys) rs267607473
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del) rs267607472
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005557.4(KRT16):c.371T>A (p.Leu124His) rs58293603
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005557.4(KRT16):c.379C>G (p.Arg127Gly) rs59856285
NM_005562.3(LAMC2):c.640+1G>A rs1183519794
NM_005566.4(LDHA):c.470G>A (p.Arg157His) rs368815124
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys) rs80338938
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_005589.4(ALDH6A1):c.853-11dup rs528185481
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser) rs773469981
NM_005591.4(MRE11):c.1326G>A (p.Lys442=) rs1591674710
NM_005591.4(MRE11):c.1420G>A (p.Val474Met) rs778781414
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.729G>C (p.Trp243Cys) rs587782105
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005619.5(RTN2):c.-170GGC[16] rs3038807
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met) rs782587560
NM_005633.4(SOS1):c.*1535G>A rs1668487434
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*3149C>T rs541644361
NM_005633.4(SOS1):c.*4077G>T rs763838346
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr) rs755862687
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile) rs1245953394
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp) rs553331572
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys) rs1347187972
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser) rs992722303
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr) rs1572796492
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg) rs730881036
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.976-3dup rs745490729
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe) rs1283637638
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs) rs1131691331
NM_005687.5(FARSB):c.848+1G>A rs777071414
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005732.4(RAD50):c.119C>T (p.Ala40Val) rs1554096657
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn) rs766657227
NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn) rs1554099872
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3612_3618+5del rs995265408
NM_005732.4(RAD50):c.3764G>A (p.Ser1255Asn) rs1202026618
NM_005732.4(RAD50):c.467T>G (p.Phe156Cys) rs1405344791
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090
NM_005751.5(AKAP9):c.10019C>T (p.Pro3340Leu) rs1011546142
NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val) rs1157417207
NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala) rs148318643
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His) rs1818679501
NM_005751.5(AKAP9):c.11525C>T (p.Ser3842Phe) rs936516286
NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=) rs769718964
NM_005751.5(AKAP9):c.1262G>A (p.Arg421Gln) rs864622705
NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val) rs1359715379
NM_005751.5(AKAP9):c.1870_1871del (p.Arg624fs) rs754882162
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) rs1265369157
NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln) rs746651292
NM_005751.5(AKAP9):c.3685A>G (p.Asn1229Asp) rs763770694
NM_005751.5(AKAP9):c.3952+2T>G rs1388639878
NM_005751.5(AKAP9):c.4348T>A (p.Ser1450Thr) rs767289847
NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr) rs760328706
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) rs764066037
NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs) rs751121443
NM_005751.5(AKAP9):c.4858C>T (p.Arg1620Ter) rs551980172
NM_005751.5(AKAP9):c.4918-10dup rs755283199
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del) rs771190405
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys) rs377560937
NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=) rs886062474
NM_005751.5(AKAP9):c.5752A>G (p.Ser1918Gly) rs1000673132
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg) rs1810599049
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn) rs150968594
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe) rs1554451226
NM_005751.5(AKAP9):c.7989AAG[1] (p.Arg2664del) rs746947919
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.9910T>A (p.Ser3304Thr) rs2130900919
NM_005751.5(AKAP9):c.9969C>A (p.His3323Gln) rs566937987
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005859.5(PURA):c.82T>C (p.Ser28Pro) rs1554129019
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005902.4(SMAD3):c.-164A>C rs886051378
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp) rs750707381
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr) rs1301737199
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu) rs751860407
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr) rs750756638
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_005912.3(MC4R):c.-59G>A rs750662653
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) rs2143967167
NM_005912.3(MC4R):c.53G>T (p.Arg18Leu) rs780671601
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) rs1915338291
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) rs775382722
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1233T>G (p.Ser411=) rs760897070
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) rs749886570
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) rs749886570
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1476T>C (p.Pro492=) rs1730893286
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) rs377677092
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1806G>A (p.Ala602=) rs142295878
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2565A>T (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) rs3821945
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) rs759360634
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.316-14T>C rs749922151
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.713-19G>A rs776845938
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.862-18G>A rs763167503
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup) rs374564889
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) rs748465503
NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser) rs2106670030
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His) rs986050062
NM_006059.4(LAMC3):c.809+2_809+8del rs775851709
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del) rs760524187
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) rs778198100
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006073.4(TRDN):c.391+1G>A rs2114436209
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006097.5(MYL9):c.184+2_184+10del rs1569529545
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006172.4(NPPA):c.25G>A (p.Val9Met) rs143419574
NM_006180.6(NTRK2):c.1396+10del rs781678424
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys) rs770950644
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His) rs373948582
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp) rs145404396
NM_006214.4(PHYH):c.846C>T (p.Phe282=) rs373839944
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.2706+11G>C rs1555226410
NM_006231.4(POLE):c.2865-4del rs369732588
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4476C>T (p.His1492=) rs5744943
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724
NM_006258.4(PRKG1):c.1936A>T (p.Thr646Ser) rs1057524623
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006267.5(RANBP2):c.5570A>G (p.Gln1857Arg) rs2149279328
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) rs2693103
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793
NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)
NM_006343.3(MERTK):c.669G>A (p.Pro223=) rs750984679
NM_006346.4(PIBF1):c.1223+14_1223+15dup rs200683940
NM_006346.4(PIBF1):c.1223+15dup rs200683940
NM_006346.4(PIBF1):c.1965-4dup rs376654507
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1750-3dup rs746706902
NM_006348.5(COG5):c.2078C>T (p.Ala693Val) rs751843896
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu) rs1031677638
NM_006348.5(COG5):c.2T>G (p.Met1Arg) rs375702393
NM_006348.5(COG5):c.538+20del rs201626701
NM_006348.5(COG5):c.538+6dup rs201626701
NM_006361.6(HOXB13):c.216G>T (p.Gly72=) rs769145488
NM_006361.6(HOXB13):c.327C>A (p.Tyr109Ter) rs749101324
NM_006361.6(HOXB13):c.526G>C (p.Gly176Arg) rs747003841
NM_006361.6(HOXB13):c.543G>T (p.Gln181His) rs1597933867
NM_006361.6(HOXB13):c.587del (p.Lys196fs) rs771483373
NM_006371.5(CRTAP):c.18G>C (p.Arg6=) rs1333081449
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) rs199819065
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser) rs377244188
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-18C>A rs369999417
NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg) rs556809277
NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro) rs142176861
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) rs369878933
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) rs779810169
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg) rs76079250
NM_006440.5(TXNRD2):c.949+437del rs35599379
NM_006445.4(PRPF8):c.1985-6dup rs1176602293
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006509.4(RELB):c.1458C>T (p.Asp486=) rs77076601
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His) rs767987787
NM_006514.4(SCN10A):c.1489C>T (p.Arg497Cys) rs370009920
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg) rs752235456
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val) rs1553617020
NM_006514.4(SCN10A):c.2677_2678del (p.Phe893fs) rs770504391
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg) rs774337248
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr) rs142173735
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu) rs141207048
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs) rs1191414961
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser) rs779570073
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006579.3(EBP):c.283G>A (p.Ala95Thr) rs2147154752
NM_006580.4(CLDN16):c.-45del rs368234054
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) rs1253995767
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) rs104893723
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) rs1577432872
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1617-5T>C rs904057670
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val) rs766677544
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His) rs1398602761
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val) rs781392583
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) rs780939002
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=) rs1596647814
NM_006662.3(SRCAP):c.189C>A (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) rs760183638
NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp) rs2052998876
NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu) rs982570410
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu) rs140379834
NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser) rs780593546
NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu) rs757626317
NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle) rs767382265
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del) rs797046007
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu) rs1562867414
NM_006772.3(SYNGAP1):c.67+15del rs753367470
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) rs781157150
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006904.7(PRKDC):c.9337-5_9337-4del rs11311765
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) rs1589705455
NM_006907.4(PYCR1):c.67+10del rs779525010
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006922.4(SCN3A):c.137A>C (p.Glu46Ala) rs1159568725
NM_006922.4(SCN3A):c.603-3_603-2del rs770371377
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) rs746183666
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys) rs950395877
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) rs1846888303
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.672T>C (p.Gly224=) rs2132373056
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro) rs953198544
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup) rs762700653
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) rs761822481
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) rs778212685
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) rs1601783129
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) rs1601777776
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) rs755595256
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs) rs1787039042
NM_007214.5(SEC63):c.1210-18dup rs370485907
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) rs752868449
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007214.5(SEC63):c.1936-11_1936-9del rs749125299
NM_007214.5(SEC63):c.1936-27_1936-25dup rs749125299
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala) rs755716600
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007214.5(SEC63):c.961+14C>T rs143606782
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) rs1553799320
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) rs876659028
NM_007294.4(BRCA1):c.1731dup (p.Ser578fs) rs1064797381
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile) rs876660144
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2554C>G (p.Leu852Val) rs863224754
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp) rs2053486938
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr) rs876660684
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.442-2A>G rs80358155
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys) rs786202165
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu) rs886040263
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5225A>G (p.Asn1742Ser) rs864622104
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys) rs397509268
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly) rs55767801
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007317.3(KIF22):c.1737G>A (p.Gln579=) rs144222256
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007317.3(KIF22):c.576G>C (p.Ser192=) rs11545431
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) rs562407134
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val) rs2134182984
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_012062.5(DNM1L):c.1885-15del rs863223951
NM_012120.3(CD2AP):c.1275-11dup rs569215676
NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) rs1582617802
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) rs773479372
NM_012120.3(CD2AP):c.730-1_730delinsCT rs1554181304
NM_012123.4(MTO1):c.1393A>G (p.Met465Val) rs1000432861
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter) rs769284314
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.817-2A>G rs2132068900
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_012200.4(B3GAT3):c.202C>T (p.Pro68Ser) rs200817074
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012210.4(TRIM32):c.*152T>G rs868402796
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met) rs1861026363
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu) rs373015960
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys) rs765348678
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His) rs750300057
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro) rs1402865703
NM_012210.4(TRIM32):c.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu) rs930137730
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.463C>A (p.Arg155Ser) rs374055553
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro) rs777914761
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr) rs199699832
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln) rs761591526
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys) rs147304059
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu) rs2132072729
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly) rs372298402
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro) rs1861006758
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met) rs766687896
NM_012210.4(TRIM32):c.939G>T (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg) rs377510422
NM_012210.4(TRIM32):c.98G>A (p.Arg33His) rs199863390
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu) rs1179555424
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro) rs146465073
NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys) rs1213179423
NM_012280.4(FTSJ1):c.*9G>A
NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg) rs150080418
NM_012301.4(MAGI2):c.2958G>T (p.Met986Ile) rs779365635
NM_012301.4(MAGI2):c.3079_3096dup (p.Met1027_Pro1032dup) rs773020054
NM_012301.4(MAGI2):c.4109G>C (p.Arg1370Pro) rs794727360
NM_012301.4(MAGI2):c.4255C>G (p.Pro1419Ala) rs1584845985
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) rs145996246
NM_012318.3(LETM1):c.83-19dup rs145853749
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.622-7G>A rs751195432
NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser) rs376938035
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) rs181420326
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) rs965528935
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) rs1027331615
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) rs769637710
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) rs2115581814
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) rs372156795
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) rs1429296509
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) rs773917768
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) rs763045418
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1112-8A>C rs1581962639
NM_012452.3(TNFRSF13B):c.53A>G (p.Glu18Gly) rs1597672265
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013266.4(CTNNA3):c.2265+1del rs2078476986
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala) rs758058375
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1]) rs534329317
NM_013275.6(ANKRD11):c.6262G>A (p.Ala2088Thr) rs753691962
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_013276.4(SHPK):c.495-19dup rs140922564
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013328.4(PYCR2):c.309del (p.Val104fs) rs2102672892
NM_013328.4(PYCR2):c.356G>A (p.Arg119His) rs149587849
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_013435.3(RAX):c.328C>G (p.Arg110Gly) rs202032096
NM_013447.4(ADGRE2):c.1693_1709del (p.Gln565fs) rs375427337
NM_014000.3(VCL):c.*1794G>A rs577038840
NM_014000.3(VCL):c.1132A>G (p.Thr378Ala) rs2131907756
NM_014000.3(VCL):c.1225C>G (p.Arg409Gly) rs202005455
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
NM_014000.3(VCL):c.1354G>A (p.Gly452Arg) rs1015527957
NM_014000.3(VCL):c.1457C>T (p.Pro486Leu) rs1251509217
NM_014000.3(VCL):c.1620T>A (p.Asp540Glu) rs533622785
NM_014000.3(VCL):c.169-11del rs753900484
NM_014000.3(VCL):c.1743+6A>G rs370709860
NM_014000.3(VCL):c.1744-1G>T rs1057524654
NM_014000.3(VCL):c.1819A>C (p.Lys607Gln) rs794729192
NM_014000.3(VCL):c.1879G>A (p.Asp627Asn) rs1251173111
NM_014000.3(VCL):c.2022+5G>T rs1050797785
NM_014000.3(VCL):c.20G>T (p.Arg7Leu) rs764871020
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr) rs754294941
NM_014000.3(VCL):c.2579del (p.Pro860fs) rs1840179829
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del) rs757018106
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser) rs1060502196
NM_014000.3(VCL):c.2866A>G (p.Met956Val) rs761830073
NM_014000.3(VCL):c.482C>G (p.Thr161Arg) rs376226543
NM_014000.3(VCL):c.565G>T (p.Val189Leu) rs151045204
NM_014000.3(VCL):c.625A>G (p.Met209Val) rs144683137
NM_014000.3(VCL):c.686dup (p.Asn229fs) rs776583302
NM_014000.3(VCL):c.768T>A (p.Asp256Glu) rs56413529
NM_014003.4(DHX38):c.605A>G (p.His202Arg) rs2144134233
NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp) rs2066019694
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.430A>G (p.Lys144Glu) rs1557116530
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) rs2104352435
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) rs201691299
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs) rs746312225
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser) rs863224845
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1148-8_1148-6del rs780003181
NM_014140.4(SMARCAL1):c.1203C>T (p.Leu401=) rs2106029145
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.4(SMARCAL1):c.1572C>A (p.Ile524=) rs749951090
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs) rs1694436267
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014140.4(SMARCAL1):c.1947C>A (p.Asp649Glu) rs2066526
NM_014140.4(SMARCAL1):c.2016G>C (p.Arg672Ser) rs1303862591
NM_014140.4(SMARCAL1):c.2341G>A (p.Val781Met) rs745349150
NM_014140.4(SMARCAL1):c.2662_2664del (p.Lys888del) rs1460396872
NM_014140.4(SMARCAL1):c.2667C>T (p.Ser889=) rs2106094842
NM_014140.4(SMARCAL1):c.279G>A (p.Gln93=) rs2106014599
NM_014140.4(SMARCAL1):c.2823del (p.Phe941fs) rs774004064
NM_014140.4(SMARCAL1):c.426G>C (p.Glu142Asp) rs767158204
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) rs759797092
NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly) rs752419100
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.875T>A (p.Leu292Gln) rs1801102530
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) rs771203643
NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) rs1727933220
NM_014225.6(PPP2R1A):c.1364-16C>G rs8100816
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs) rs1757906798
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His) rs775213299
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup) rs1757908540
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1]) rs1041304220
NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln) rs527428190
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu) rs527428190
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs) rs753692696
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014270.5(SLC7A9):c.1400-2A>G rs2145788754
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=) rs753121162
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs) rs774124697
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met) rs121908479
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) rs2146021370
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014314.4(RIGI):c.816dup (p.Val273fs) rs781124785
NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg) rs2132259534
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) rs756800816
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.21-162C>G rs578105700
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) rs2137645971
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly) rs377629003
NM_014423.4(AFF4):c.1051-17A>C rs55844143
NM_014423.4(AFF4):c.178G>A (p.Asp60Asn) rs2150099058
NM_014423.4(AFF4):c.963+12dup rs56817345
NM_014425.5(INVS):c.118C>T (p.Leu40Phe) rs148219510
NM_014425.5(INVS):c.1466G>A (p.Gly489Glu) rs1015507237
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1544C>T (p.Pro515Leu) rs1173094879
NM_014425.5(INVS):c.158T>C (p.Met53Thr) rs748223529
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.1639G>A (p.Gly547Ser) rs368682890
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) rs1833001296
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1808G>A (p.Arg603Gln) rs372596288
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.239G>A (p.Ser80Asn) rs1231356870
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.273+3G>A rs2118895764
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2822A>T (p.His941Leu) rs886042226
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter) rs1178491246
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014585.6(SLC40A1):c.271+10_271+12del rs768786843
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly) rs104893663
NM_014588.6(VSX1):c.740C>G (p.Pro247Arg) rs576300014
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.276T>C (p.Gly92=) rs955807467
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.436del (p.Arg146fs) rs778201387
NM_014625.4(NPHS2):c.451+9dup rs542240453
NM_014625.4(NPHS2):c.738+1G>A rs1673954981
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys) rs1673254835
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs) rs1057516880
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868
NM_014639.4(SKIC3):c.1757+1G>A rs570910902
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp) rs749693319
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1428T>C (p.Ser476=) rs771030841
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014727.3(KMT2B):c.1108GAA[3] (p.Glu373del) rs201152143
NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=) rs375564425
NM_014795.4(ZEB2):c.1283T>C (p.Val428Ala) rs730881192
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.593-9C>T rs372216323
NM_014795.4(ZEB2):c.807+3G>T rs144925893
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del) rs145749994
NM_014822.4(SEC24D):c.1422-9dup rs71595318
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014862.4(ARNT2):c.195-16C>T rs79685127
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs) rs1287763056
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val) rs1588261710
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014908.4(DOLK):c.702G>C (p.Met234Ile) rs746656818
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) rs61730102
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del) rs201964851
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp) rs1553319093
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1153-15G>T rs372749388
NM_014956.5(CEP164):c.1233+18del rs2135973306
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_014956.5(CEP164):c.1362C>T (p.Ser454=) rs1163809267
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys) rs757278608
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr) rs112527080
NM_014956.5(CEP164):c.1608T>C (p.Cys536=) rs750310170
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg) rs758286092
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu) rs1053615798
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr) rs758890143
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val) rs763926600
NM_014956.5(CEP164):c.2466T>C (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2519G>A (p.Arg840His) rs201901144
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly) rs374045323
NM_014956.5(CEP164):c.2834_2844+13dup rs765251449
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu) rs2045343660
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.333G>A (p.Lys111=) rs568554283
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys) rs138487235
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys) rs375184395
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=) rs1457505922
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del) rs752854208
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.381C>A (p.Pro127=) rs375951540
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu) rs758693012
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser) rs769315243
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp) rs745904143
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.485G>A (p.Arg162His) rs139763142
NM_014956.5(CEP164):c.552+14C>G rs754626177
NM_014956.5(CEP164):c.644_646del (p.Gly215del) rs759774330
NM_014956.5(CEP164):c.688-7T>C rs539939395
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp) rs368668415
NM_014956.5(CEP164):c.765+8C>T rs2041253275
NM_014967.5(FAN1):c.1702C>T (p.Gln568Ter) rs2140913969
NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) rs387907279
NM_014967.5(FAN1):c.2271G>A (p.Pro757=) rs60719098
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) rs767651793
NM_014967.5(FAN1):c.332del (p.Pro111fs) rs2140895653
NM_014967.5(FAN1):c.922_923del (p.Val308fs) rs774499986
NM_014991.6(WDFY3):c.3487+8dup rs139234296
NM_015001.3(SPEN):c.5567A>G (p.Asn1856Ser) rs113470169
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) rs1779473213
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015102.5(NPHP4):c.1119+18G>A rs1172328337
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs) rs1553178047
NM_015102.5(NPHP4):c.1427C>A (p.Pro476His) rs534853218
NM_015102.5(NPHP4):c.1463G>C (p.Arg488Pro) rs375429200
NM_015102.5(NPHP4):c.1523C>T (p.Ala508Val) rs766910538
NM_015102.5(NPHP4):c.1534C>T (p.Arg512Trp) rs769747675
NM_015102.5(NPHP4):c.1740TGT[1] (p.Val582del) rs1282891020
NM_015102.5(NPHP4):c.1838A>G (p.Asn613Ser) rs1557699489
NM_015102.5(NPHP4):c.2007del (p.Phe670fs) rs1235304713
NM_015102.5(NPHP4):c.2021G>A (p.Arg674His) rs375416303
NM_015102.5(NPHP4):c.2032G>T (p.Ala678Ser) rs368101076
NM_015102.5(NPHP4):c.2241_2242delinsAA (p.Gln748Lys) rs2100920979
NM_015102.5(NPHP4):c.2358_2360del (p.Val787del) rs751681273
NM_015102.5(NPHP4):c.2374G>A (p.Glu792Lys) rs764028061
NM_015102.5(NPHP4):c.2426A>G (p.Lys809Arg) rs747951355
NM_015102.5(NPHP4):c.2651A>G (p.Asp884Gly) rs1642710907
NM_015102.5(NPHP4):c.2812G>C (p.Val938Leu) rs184961418
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs) rs1168286961
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs) rs1557616007
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=) rs540738356
NM_015102.5(NPHP4):c.3203T>G (p.Phe1068Cys) rs764323785
NM_015102.5(NPHP4):c.3231+7dup rs2100617783
NM_015102.5(NPHP4):c.3232-10del rs757249675
NM_015102.5(NPHP4):c.3252C>G (p.Asn1084Lys) rs778087914
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=) rs890957347
NM_015102.5(NPHP4):c.3762G>T (p.Gly1254=) rs762953303
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015102.5(NPHP4):c.3964T>G (p.Cys1322Gly) rs748449029
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp) rs1417370808
NM_015102.5(NPHP4):c.674-10A>G rs1031299307
NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) rs752644932
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015102.5(NPHP4):c.96G>T (p.Gln32His) rs776102193
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015141.4(GPD1L):c.367-11_367-10delinsAT rs1575115586
NM_015141.4(GPD1L):c.619-9C>A rs2044880
NM_015141.4(GPD1L):c.853-2A>G rs766733448
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) rs756738968
NM_015158.5(KANK1):c.1287A>C (p.Thr429=) rs142442062
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) rs149011172
NM_015158.5(KANK1):c.2896+2T>G rs149121553
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) rs1564102615
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) rs1002937620
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) rs751635469
NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) rs201456672
NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) rs200239036
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) rs1481812195
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) rs143775530
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) rs781727306
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter) rs1553280067
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly) rs565245381
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg) rs181526554
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp) rs1967370164
NM_015272.5(RPGRIP1L):c.1699+14G>T rs188075133
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr) rs2151128525
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys) rs981992752
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=) rs745879566
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=) rs138669723
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=) rs1966518935
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=) rs1970448329
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=) rs1598310040
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser) rs1966216548
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe) rs576417383
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=) rs2151058712
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del) rs752076060
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs) rs761954313
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr) rs2150909535
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=) rs1022259426
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7]) rs76317765
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) rs2106073376
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015340.4(LARS2):c.2540A>G (p.Asn847Ser) rs538066955
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln) rs138664542
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=) rs370775301
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala) rs1446402549
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser) rs752325882
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile) rs760506954
NM_015443.4(KANSL1):c.577A>G (p.Met193Val) rs2147744657
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp) rs138175526
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala) rs745305837
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
NM_015443.4(KANSL1):c.954A>T (p.Gln318His) rs773332161
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015488.5(PNKD):c.585del (p.Ser196fs) rs761519363
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His) rs200951874
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp) rs1416177113
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp) rs199955529
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu) rs1559525094
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly) rs185305129
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs) rs763778803
NM_015627.3(LDLRAP1):c.114G>A (p.Thr38=) rs138908999
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His) rs386629678
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter) rs121908324
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015627.3(LDLRAP1):c.801A>G (p.Thr267=) rs374704070
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) rs369400518
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) rs1664979213
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) rs529850410
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015693.4(INTU):c.1450-9T>G rs73847044
NM_015693.4(INTU):c.683-16G>C rs56223823
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.534T>C (p.Asp178=) rs1810881397
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val) rs1694378572
NM_015910.7(WDPCP):c.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg) rs2105185377
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg) rs190629484
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter) rs2105500878
NM_015910.7(WDPCP):c.633+17A>T rs373456348
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys) rs1324126661
NM_015915.5(ATL1):c.723+3_723+19del rs1461170744
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016035.5(COQ4):c.137C>G (p.Pro46Arg) rs566983104
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016103.4(SAR1B):c.480+18del rs199526981
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) rs543247293
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) rs2046528137
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) rs780798446
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly) rs941586075
NM_016327.3(UPB1):c.-27G>C rs780314131
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu) rs147233639
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del) rs949036081
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys) rs372618210
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016335.6(PRODH):c.1623C>G (p.Ala541=) rs16983347
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln) rs779412444
NM_016335.6(PRODH):c.1A>G (p.Met1Val) rs1036292619
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys) rs1023813331
NM_016335.6(PRODH):c.270G>A (p.Glu90=) rs562699700
NM_016335.6(PRODH):c.54C>T (p.Val18=) rs1032634465
NM_016335.6(PRODH):c.803C>T (p.Ala268Val) rs375358521
NM_016335.6(PRODH):c.87G>A (p.Gln29=) rs1417739533
NM_016335.6(PRODH):c.90C>T (p.Pro30=) rs2146224247
NM_016335.6(PRODH):c.930-15C>T rs201272622
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.1185G>A (p.Leu395=) rs762259865
NM_016341.4(PLCE1):c.3281G>C (p.Gly1094Ala) rs61732523
NM_016341.4(PLCE1):c.4363dup (p.Thr1455fs) rs2133104138
NM_016341.4(PLCE1):c.4724G>A (p.Arg1575Gln) rs2274224
NM_016341.4(PLCE1):c.4733A>T (p.Asn1578Ile) rs61732525
NM_016341.4(PLCE1):c.5168-6G>C rs148239915
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) rs267606953
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr) rs180876175
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_016341.4(PLCE1):c.748C>A (p.Gln250Lys) rs1193922904
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile) rs1028498197
NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.349-16dup rs746353912
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016599.5(MYOZ2):c.*1262del rs533440962
NM_016599.5(MYOZ2):c.*1262dup rs533440962
NM_016599.5(MYOZ2):c.-15+11dup rs58371596
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu) rs368392953
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.327del (p.Asn110fs) rs2149223404
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016604.4(KDM3B):c.2693T>C (p.Phe898Ser) rs1762477174
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_016729.3(FOLR1):c.311C>A (p.Thr104Asn) rs766989831
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) rs199469628
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017415.3(KLHL3):c.1654G>T (p.Ala552Ser) rs2149876263
NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly) rs764192576
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) rs956049429
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) rs771912912
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) rs200599944
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) rs2143526028
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser) rs782662415
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys) rs200381383
NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu) rs540750311
NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter) rs781977956
NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys) rs201623019
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) rs147874057
NM_017570.5(OPLAH):c.3721-11dup rs782568024
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) rs768517628
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) rs1843147969
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) rs886039138
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val) rs1473062369
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) rs750536437
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017635.5(KMT5B):c.309-5_309-2del rs779089106
NM_017636.4(TRPM4):c.1212C>A (p.Asn404Lys) rs755499876
NM_017636.4(TRPM4):c.1249del (p.Asp417fs) rs750295454
NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln) rs200508171
NM_017636.4(TRPM4):c.1603G>T (p.Glu535Ter) rs748187859
NM_017636.4(TRPM4):c.1993_1999del (p.Ala665fs) rs751139020
NM_017636.4(TRPM4):c.23A>T (p.Gln8Leu) rs1057522811
NM_017636.4(TRPM4):c.2513dup (p.Ser839fs) rs747536688
NM_017636.4(TRPM4):c.2645+1G>A rs1568485293
NM_017636.4(TRPM4):c.2664C>G (p.Tyr888Ter) rs2145967337
NM_017636.4(TRPM4):c.2665del (p.His889fs) rs777047595
NM_017636.4(TRPM4):c.2749G>C (p.Gly917Arg) rs745340937
NM_017636.4(TRPM4):c.2785G>A (p.Asp929Asn) rs1555762844
NM_017636.4(TRPM4):c.2894G>A (p.Arg965His) rs150452571
NM_017636.4(TRPM4):c.2915T>A (p.Leu972Gln) rs2145969416
NM_017636.4(TRPM4):c.2932A>G (p.Ile978Val) rs962480684
NM_017636.4(TRPM4):c.3329-8C>G rs369748756
NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs) rs1054561100
NM_017636.4(TRPM4):c.3550C>T (p.Arg1184Cys) rs779436318
NM_017636.4(TRPM4):c.3607G>A (p.Gly1203Arg) rs916697392
NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu) rs730880236
NM_017636.4(TRPM4):c.845AGA[1] (p.Lys283del) rs988711796
NM_017649.5(CNNM2):c.118A>G (p.Ile40Val) rs2134148877
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter) rs2134338484
NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu) rs1057524606
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=) rs181767582
NM_017654.4(SAMD9):c.29del (p.Asn10fs) rs1356051307
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017662.5(TRPM6):c.1224G>A (p.Ala408=) rs141597109
NM_017662.5(TRPM6):c.2608G>A (p.Val870Met) rs180963446
NM_017662.5(TRPM6):c.4698G>T (p.Gly1566=) rs542601704
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu) rs757050240
NM_017780.4(CHD7):c.1238T>G (p.Val413Gly) rs1021434443
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu) rs1694045574
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup) rs1563595031
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln) rs755898600
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile) rs1809027007
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln) rs750203389
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) rs2150578491
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) rs1302545775
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) rs1398262614
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser) rs1809061303
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu) rs1046787337
NM_017780.4(CHD7):c.7971+6C>G rs769103057
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) rs1806181643
NM_017780.4(CHD7):c.831G>C (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro) rs1373512004
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs) rs1554255966
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter) rs1489856215
NM_017827.4(SARS2):c.679C>T (p.Arg227Trp) rs761305168
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_017841.4(SDHAF2):c.370+4C>G rs758935566
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_017882.3(CLN6):c.717C>T (p.Phe239=) rs745850620
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) rs146801142
NM_017909.4(RMND1):c.1159G>C (p.Asp387His) rs372096369
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr) rs1411929426
NM_017909.4(RMND1):c.485del (p.Pro162fs) rs759477396
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs) rs761752580
NM_017947.4(MOCOS):c.1093T>C (p.Tyr365His) rs753847410
NM_017947.4(MOCOS):c.1182G>A (p.Val394=) rs770827269
NM_017947.4(MOCOS):c.1367T>C (p.Leu456Pro) rs866172904
NM_017947.4(MOCOS):c.142+16_142+19dup rs780090086
NM_017947.4(MOCOS):c.14C>T (p.Ala5Val) rs1262805938
NM_017947.4(MOCOS):c.1516G>A (p.Gly506Arg) rs149198061
NM_017947.4(MOCOS):c.1629C>G (p.Asn543Lys) rs138424306
NM_017947.4(MOCOS):c.1930C>T (p.Arg644Trp) rs757679830
NM_017947.4(MOCOS):c.1968G>T (p.Glu656Asp) rs188606897
NM_017947.4(MOCOS):c.2407C>G (p.Gln803Glu) rs774534818
NM_017947.4(MOCOS):c.462C>T (p.Ser154=) rs373748036
NM_017947.4(MOCOS):c.541G>A (p.Glu181Lys) rs1598871599
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) rs200145777
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter) rs1568667609
NM_017950.4(CCDC40):c.676+2_676+3dup rs756160039
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup) rs536647518
NM_018060.4(IARS2):c.1328-5dup rs199649609
NM_018060.4(IARS2):c.268-8del rs376359534
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln) rs143819820
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn) rs376224867
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile) rs376224867
NM_018062.4(FANCL):c.22C>A (p.Leu8Met) rs764378405
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) rs370409722
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) rs1694515857
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) rs935920468
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) rs2104794990
NM_018062.4(FANCL):c.913A>T (p.Met305Leu) rs553742734
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
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_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) rs767952378
NM_018122.5(DARS2):c.128-1G>T rs267598175
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3]) rs962923283
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del) rs2139583907
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018206.6(VPS35):c.915-16T>G rs757051230
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) rs762131179
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_018417.6(ADCY10):c.2215G>T (p.Glu739Ter) rs1407377211
NM_018417.6(ADCY10):c.2308+11C>T rs79898706
NM_018417.6(ADCY10):c.253+4A>G rs949024270
NM_018417.6(ADCY10):c.254-19dup rs746507234
NM_018417.6(ADCY10):c.254-6del rs746507234
NM_018417.6(ADCY10):c.2872G>T (p.Glu958Ter) rs376243653
NM_018417.6(ADCY10):c.307G>T (p.Ala103Ser) rs1669443980
NM_018417.6(ADCY10):c.4171T>G (p.Phe1391Val) rs1662951098
NM_018417.6(ADCY10):c.4815C>T (p.Thr1605=) rs146952021
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_018418.5(SPATA7):c.75C>G (p.His25Gln) rs765968462
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_018669.6(WDR4):c.33G>A (p.Gly11=) rs138295040
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs) rs1271803838
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018719.5(CDCA7L):c.*1334G>A rs141951506
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr) rs150941982
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_018941.4(CLN8):c.374A>T (p.Asn125Ile) rs142269885
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.94T>G (p.Phe32Val) rs758068226
NM_018965.4(TREM2):c.292C>T (p.Arg98Trp) rs147564421
NM_018979.4(WNK1):c.1269G>A (p.Ser423=) rs955095527
NM_018979.4(WNK1):c.1476A>T (p.Glu492Asp) rs750205260
NM_018979.4(WNK1):c.1776G>A (p.Gln592=) rs747700724
NM_018979.4(WNK1):c.2303C>T (p.Ala768Val) rs757239881
NM_018979.4(WNK1):c.2658G>C (p.Pro886=) rs200965163
NM_018979.4(WNK1):c.2947G>C (p.Glu983Gln) rs1185591309
NM_018979.4(WNK1):c.3081C>T (p.Pro1027=) rs150212942
NM_018979.4(WNK1):c.3326G>A (p.Arg1109His) rs750478389
NM_018979.4(WNK1):c.3372+3A>G rs1426580785
NM_018979.4(WNK1):c.3590G>T (p.Ser1197Ile) rs1592165053
NM_018979.4(WNK1):c.3845-14G>A rs368270119
NM_018979.4(WNK1):c.3991C>T (p.Pro1331Ser) rs200513331
NM_018979.4(WNK1):c.4022G>C (p.Ser1341Thr) rs1301534353
NM_018979.4(WNK1):c.464C>A (p.Thr155Asn) rs940919645
NM_018979.4(WNK1):c.48G>T (p.Leu16=) rs368453008
NM_018979.4(WNK1):c.5314A>C (p.Thr1772Pro) rs1183977237
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_018979.4(WNK1):c.5727G>A (p.Pro1909=) rs763247767
NM_018979.4(WNK1):c.5742C>A (p.Ile1914=) rs1391710406
NM_018979.4(WNK1):c.5936C>A (p.Pro1979His) rs1954736870
NM_018979.4(WNK1):c.6061A>G (p.Arg2021Gly) rs1954746383
NM_018979.4(WNK1):c.6310A>G (p.Lys2104Glu) rs1310976331
NM_018979.4(WNK1):c.6624C>T (p.Ser2208=) rs72650768
NM_018979.4(WNK1):c.6631G>C (p.Ala2211Pro) rs1955178531
NM_018979.4(WNK1):c.6883A>T (p.Met2295Leu) rs762667877
NM_018979.4(WNK1):c.6923C>T (p.Ala2308Val) rs1955893159
NM_018979.4(WNK1):c.74C>T (p.Pro25Leu) rs1211154368
NM_018993.4(RIN2):c.923C>A (p.Pro308Gln) rs374058245
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019032.6(ADAMTSL4):c.2560-14CTC[2] rs373643644
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe) rs386781907
NM_019074.4(DLL4):c.382G>A (p.Asp128Asn) rs374022749
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.176A>C (p.His59Pro) rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg) rs773372110
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu) rs767455250
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
NM_019109.5(ALG1):c.961+8C>G rs371353008
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu) rs769531967
NM_019892.6(INPP5E):c.813-9C>T rs771055995
NM_020041.3(SLC2A9):c.1114-29CT[8] rs141838570
NM_020041.3(SLC2A9):c.1420-19del rs376925476
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581
NM_020041.3(SLC2A9):c.45_50dup (p.Pro16_Leu17dup) rs776005683
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del) rs780903069
NM_020070.4(IGLL1):c.421del (p.Tyr141fs) rs765603007
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg) rs1553659698
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met) rs145010504
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys) rs375971612
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro) rs763259500
NM_020223.4(FAM20C):c.1690A>C (p.Asn564His) rs36139924
NM_020223.4(FAM20C):c.784+19A>T rs192542992
NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser) rs2137747839
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala) rs878854783
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter) rs1194330942
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) rs1373377020
NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr) rs1270249014
NM_020297.4(ABCC9):c.4014del (p.Gly1339fs) rs2137173765
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs) rs730880370
NM_020297.4(ABCC9):c.4450-6_4450-5del rs4148680
NM_020297.4(ABCC9):c.4512+824G>C rs1941745235
NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn) rs1948578084
NM_020297.4(ABCC9):c.7C>G (p.Leu3Val) rs976596252
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.1554del (p.Arg519fs) rs754610170
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020320.5(RARS2):c.757A>G (p.Ile253Val) rs863224179
NM_020320.5(RARS2):c.772-1G>A rs2128057942
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.928dup (p.Ile310fs) rs1360282089
NM_020347.4(LZTFL1):c.128+13del rs750701550
NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser) rs748688183
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_020376.4(PNPLA2):c.1102G>C (p.Glu368Gln) rs769876456
NM_020381.4(PDSS2):c.1134C>T (p.Ser378=) rs543231659
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020408.6(LYRM4):c.-11_-10dup rs561083109
NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter) rs1260496472
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser) rs1600828763
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln) rs1569180563
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr) rs1600828677
NM_020433.5(JPH2):c.2006_2010+1dup rs2072182869
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys) rs1569226231
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys) rs1054295023
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) rs138891224
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) rs774714248
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020632.3(ATP6V0A4):c.1675A>T (p.Ser559Cys) rs369486474
NM_020632.3(ATP6V0A4):c.1703G>C (p.Arg568Thr) rs774244498
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020632.3(ATP6V0A4):c.640-29dup rs72044473
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020638.3(FGF23):c.555G>A (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_020686.6(ABAT):c.540+14CA[10] rs35745596
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_020686.6(ABAT):c.677C>T (p.Ala226Val) rs372807667
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870
NM_020751.3(COG6):c.*315del rs142947196
NM_020771.4(HACE1):c.2443-5_2443-3del rs72218235
NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter) rs1555696617
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020806.5(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=) rs200378092
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020831.6(MRTFA):c.1657G>A (p.Val553Met) rs543904613
NM_020831.6(MRTFA):c.1916G>A (p.Arg639His) rs370664004
NM_020831.6(MRTFA):c.2518-15del rs367823907
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=) rs964738831
NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup) rs1554028299
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) rs1887060432
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) rs771036341
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) rs1887398867
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) rs1255434449
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) rs866897480
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) rs1388696715
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) rs1887827994
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) rs142763060
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) rs1181869875
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) rs2139242067
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) rs372276411
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) rs1566765698
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) rs1312125043
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) rs758891745
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) rs1369746830
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) rs139382920
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4378A>C (p.Ile1460Leu) rs78211950
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) rs932577451
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) rs1889498706
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) rs1889499436
NM_020937.4(FANCM):c.4780-4G>C rs1486453187
NM_020937.4(FANCM):c.480C>T (p.Ile160=) rs753171718
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) rs2139296568
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) rs367653310
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) rs540327722
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) rs747356020
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) rs769106934
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) rs760258217
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) rs770012987
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.876G>A (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) rs372710600
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) rs1886810472
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020975.6(RET):c.1154G>T (p.Gly385Val) rs906695652
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) rs371731991
NM_020975.6(RET):c.1264-10G>A rs1837911590
NM_020975.6(RET):c.1264-5C>A rs9282835
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) rs794727875
NM_020975.6(RET):c.1311C>T (p.Asn437=) rs1190189942
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) rs539995816
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) rs1194200337
NM_020975.6(RET):c.1617C>A (p.Gly539=) rs1554818648
NM_020975.6(RET):c.1648+14A>G rs1356301733
NM_020975.6(RET):c.1648+5G>A rs863224776
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) rs1837994115
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.186G>A (p.Glu62=) rs1588862529
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2089C>T (p.Leu697=) rs1588874416
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) rs3026760
NM_020975.6(RET):c.2262G>A (p.Thr754=) rs779080598
NM_020975.6(RET):c.2393-5C>T rs1554819512
NM_020975.6(RET):c.2433C>T (p.Ser811=) rs1290818295
NM_020975.6(RET):c.2450G>A (p.Arg817His) rs1345166214
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) rs2132945857
NM_020975.6(RET):c.2487T>C (p.Ser829=) rs2132946081
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2535C>T (p.Ala845=) rs377767425
NM_020975.6(RET):c.2607+3G>C rs752538741
NM_020975.6(RET):c.2700T>C (p.Tyr900=) rs1185622721
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) rs1588877711
NM_020975.6(RET):c.2985G>A (p.Arg995=) rs1252674267
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) rs1554820077
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) rs368345402
NM_020975.6(RET):c.31C>T (p.Leu11=) rs587780812
NM_020975.6(RET):c.443C>T (p.Ser148Phe) rs1837660663
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) rs776989694
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.452A>T (p.Asn151Ile) rs150261092
NM_020975.6(RET):c.565C>T (p.Arg189Cys) rs1210452561
NM_020975.6(RET):c.577G>T (p.Val193Leu) rs1008123818
NM_020975.6(RET):c.592C>T (p.Pro198Ser) rs76736111
NM_020975.6(RET):c.650C>A (p.Ala217Asp) rs1060500754
NM_020975.6(RET):c.810C>A (p.Pro270=) rs1160403666
NM_020975.6(RET):c.868-18G>T rs57098408
NM_020975.6(RET):c.921A>G (p.Ser307=) rs748294306
NM_020975.6(RET):c.960C>A (p.Pro320=) rs756761746
NM_020975.6(RET):c.960C>T (p.Pro320=) rs756761746
NM_020987.5(ANK3):c.148C>T (p.Arg50Ter) rs1064796340
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del) rs764632652
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) rs2143660444
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) rs1386785579
NM_021008.4(DEAF1):c.56_85del (p.Val19_Ala28del) rs748949371
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_021098.3(CACNA1H):c.1213-10C>G rs373660548
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=) rs58198225
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp) rs988908130
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly) rs770949848
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val) rs1967962877
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val) rs918496310
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala) rs935642453
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup) rs760736442
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=) rs763608019
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile) rs773099504
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg) rs761227158
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln) rs771171443
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg) rs778111473
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met) rs140979551
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=) rs2141277940
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp) rs1596418694
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu) rs200422681
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg) rs774748739
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) rs538923520
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile) rs781150755
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=) rs904297221
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu) rs372759314
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu) rs1402942281
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del) rs1420201619
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=) rs545917540
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=) rs377029056
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) rs562148225
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val) rs1968823371
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val) rs766946572
NM_021098.3(CACNA1H):c.299+14_299+15inv
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
NM_021098.3(CACNA1H):c.300-5G>A rs748626072
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe) rs1242224134
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=) rs369351441
NM_021098.3(CACNA1H):c.3154+12C>T rs779364761
NM_021098.3(CACNA1H):c.3155-7C>G rs376008324
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met) rs369966669
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr) rs1317286644
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) rs746597383
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met) rs375342465
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His) rs1233148543
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val) rs1461904626
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro) rs58594334
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe) rs1969139516
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val) rs780672769
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.3(CACNA1H):c.3745-14G>A rs8056494
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His) rs534632699
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=) rs750607074
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val) rs1969249888
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp) rs763465373
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His) rs748613561
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys) rs370725735
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021098.3(CACNA1H):c.4224-17C>G rs565477632
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile) rs1966873640
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg) rs2141351732
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=) rs752944065
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val) rs558718048
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) rs774569737
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=) rs559982155
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His) rs377532485
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu) rs119454947
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=) rs534178272
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val) rs1317563201
NM_021098.3(CACNA1H):c.5039+17C>T rs201391366
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5173+13G>C rs542071111
NM_021098.3(CACNA1H):c.5173+19G>A rs753759563
NM_021098.3(CACNA1H):c.5173+9C>G rs1018925405
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.5245-11C>G rs150441087
NM_021098.3(CACNA1H):c.5245-11C>T rs150441087
NM_021098.3(CACNA1H):c.5324-16G>T rs374872701
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=) rs868670809
NM_021098.3(CACNA1H):c.537C>T (p.Val179=) rs368785828
NM_021098.3(CACNA1H):c.5445+4C>G rs147142971
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg) rs202070652
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His) rs376984823
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu) rs376984823
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6048+2_6048+5del rs1172256364
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn) rs1567558436
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp) rs373707854
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His) rs765706404
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro) rs777897759
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys) rs370434906
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu) rs752385455
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp) rs752621913
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys) rs761679939
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=) rs371375487
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=) rs375725132
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) rs1468998569
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu) rs2141413399
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr) rs757713867
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu) rs150601404
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=) rs369201438
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg) rs1195218337
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=) rs529471626
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp) rs142005939
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg) rs988478105
NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys) rs932471141
NM_021167.5(GATAD1):c.411C>G (p.Ile137Met) rs1157446233
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys) rs745660697
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021728.4(OTX2):c.380G>A (p.Arg127Gln) rs199799627
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter) rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_021911.3(GABRB2):c.-152-8del rs56867928
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) rs1225225979
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr) rs1581696567
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) rs956659254
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) rs139600847
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg) rs150336652
NM_022041.4(GAN):c.497G>C (p.Ser166Thr) rs758366654
NM_022042.4(SLC26A1):c.1244C>T (p.Ser415Phe) rs200470975
NM_022042.4(SLC26A1):c.1519C>A (p.Arg507Ser) rs368806302
NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=) rs199549367
NM_022042.4(SLC26A1):c.1937_1947del (p.Leu646fs) rs752630392
NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met) rs751574638
NM_022042.4(SLC26A1):c.316TTC[1] (p.Phe107del) rs750081799
NM_022042.4(SLC26A1):c.577-15G>A rs192314032
NM_022042.4(SLC26A1):c.637G>A (p.Asp213Asn) rs372848776
NM_022042.4(SLC26A1):c.990_997dup (p.Pro333fs) rs754967651
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022168.4(IFIH1):c.1095+1G>A rs140125523
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2045-1G>T rs748813106
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) rs745948096
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2454+1G>T rs778780074
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.232del (p.Gln78fs) rs137853948
NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) rs1567193252
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val) rs897344189
NM_022436.3(ABCG5):c.598C>G (p.Arg200Gly) rs986330996
NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp) rs746527671
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) rs546116718
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) rs2149899575
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6259-4G>T rs764710462
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.1950-10C>A rs199987321
NM_022489.4(INF2):c.1950-20C>T rs370726873
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
NM_022489.4(INF2):c.3694+12_3694+15del rs766461452
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.392-13_392-9dup rs775575983
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) rs2133798660
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) rs1858614312
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys) rs1359473267
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) rs1590542146
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) rs1565055434
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) rs201357673
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln) rs868692458
NM_022725.4(FANCF):c.433A>G (p.Met145Val) rs766160698
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) rs1590541541
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser) rs765672591
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg) rs758796858
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser) rs144524228
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser) rs370347668
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) rs746120363
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile) rs1250903119
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022765.4(MICAL1):c.2044del (p.Pro681_Leu682insTer) rs553320791
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu) rs199726930
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) rs567531807
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly) rs137852998
NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs387906322
NM_023067.4(FOXL2):c.672_674del (p.Ala234del) rs779509486
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) rs104893738
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=) rs6697820
NM_024298.5(MBOAT7):c.-1587C>G rs145947907
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) rs2054920081
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) rs765885747
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu) rs1383772676
NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=) rs1952969149
NM_024312.5(GNPTAB):c.771+7A>C rs375495503
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys) rs779983477
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024422.6(DSC2):c.*422C>T rs769685892
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) rs1986959880
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) rs748644229
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs) rs1986691422
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn) rs1987447561
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.662-10G>T rs1554945255
NM_024426.6(WT1):c.708G>A (p.Thr236=) rs768828897
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024426.6(WT1):c.780G>A (p.Ser260=) rs1403311573
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982
NM_024496.4(IRF2BPL):c.321_332del (p.Gln124_Gln127del) rs1566786923
NM_024496.4(IRF2BPL):c.342_344del (p.Gln127del) rs773628724
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=) rs111824082
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-6del rs563805986
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg) rs1240392926
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_024598.4(USB1):c.63del (p.Met22fs) rs747958554
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) rs137853913
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) rs1856141438
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.830+12del rs1343720111
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) rs144944814
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) rs876660876
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) rs1567221497
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro) rs367578415
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu) rs776294034
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) rs577969558
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) rs75023630
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) rs869025294
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser) rs1555461232
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) rs1060502741
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) rs876659354
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg) rs1555460644
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu) rs1567218668
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) rs876659058
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile) rs1567218311
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.205C>T (p.His69Tyr) rs879253891
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) rs770145849
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu) rs1966858909
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly) rs1060502779
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg) rs1060502794
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg) rs746117401
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) rs1567216902
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) rs730881890
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala) rs1555459734
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu) rs1555459732
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile) rs1597082795
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly) rs769009609
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys) rs1567214295
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly) rs375942535
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) rs876659643
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) rs1567212950
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe) rs863224783
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) rs863224785
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe) rs1555458226
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val) rs1057523330
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met) rs142132127
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg) rs911734555
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met) rs757118000
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) rs62625283
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr) rs1251150895
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys) rs2142443443
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) rs587780220
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile) rs587782164
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg) rs769647912
NM_024675.4(PALB2):c.637G>C (p.Val213Leu) rs786203875
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly) rs779278389
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg) rs1597098293
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.968C>T (p.Ala323Val) rs730881882
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1696A>C (p.Asn566His) rs144402299
NM_024685.4(BBS10):c.1780A>G (p.Met594Val) rs1951756219
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.2T>C (p.Met1Thr) rs1382481529
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) rs1318745309
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_024740.2(ALG9):c.701+1G>A rs2137107185
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) rs544314793
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1185+5A>G rs2105343665
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) rs1559058045
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs) rs2105291970
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024876.4(COQ8B):c.1210-10G>A rs77801349
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.690_693del rs778902849
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys) rs377102088
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) rs1399050730
NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn) rs2110114875
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln) rs141843124
NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr) rs199542867
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr) rs369605412
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val) rs1704836684
NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys) rs375063448
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile) rs770386832
NM_025074.7(FRAS1):c.4969+19A>T rs73831318
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.585G>T (p.Gln195His) rs930940115
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn) rs200547348
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer) rs1263546070
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg) rs754878371
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val) rs1459958084
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu) rs1193394531
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser) rs1488946278
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) rs748976722
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu) rs955251811
NM_025114.4(CEP290):c.2483+5A>G rs2137661741
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2697A>G (p.Gln899=) rs770769486
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser) rs1443848622
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys) rs1039332206
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala) rs898733071
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del) rs760503950
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly) rs372918770
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp) rs372918770
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del) rs749010290
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg) rs375065584
NM_025114.4(CEP290):c.3605A>T (p.Lys1202Met) rs375065584
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala) rs2040372439
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu) rs1565845877
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu) rs2137270029
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=) rs1006145739
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg) rs1157241942
NM_025114.4(CEP290):c.442-23_442-20del rs746139755
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val) rs200817579
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.4599C>T (p.His1533=) rs932264519
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4705-7A>G rs1367159797
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5013-30CA[5] rs759447937
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His) rs1173154577
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys) rs568619750
NM_025114.4(CEP290):c.5226+5_5226+8del rs1353301232
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val) rs951910051
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln) rs778030031
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp) rs2136964084
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6135+10T>C rs371097588
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr) rs2034695558
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp) rs191613017
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_025114.4(CEP290):c.6523-17_6523-15del rs751359519
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile) rs1480802620
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.670-13_670-12del rs941686794
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.7129+8A>G rs2136623486
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu) rs1478582091
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) rs768777116
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025114.4(CEP290):c.99C>T (p.Ser33=) rs866917306
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_025150.5(TARS2):c.1719-17C>A rs201218331
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025216.2(WNT10A):c.-249G>C rs571829301
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu) rs768656734
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030667.3(PTPRO):c.2997+18del rs751345733
NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=) rs144347297
NM_030667.3(PTPRO):c.612C>T (p.Thr204=) rs139561990
NM_030761.5(WNT4):c.897G>T (p.Thr299=) rs139205770
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu) rs370641856
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)
NM_030930.4(UNC93B1):c.1557_1561del (p.Val522fs) rs1010114944
NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln) rs1554984685
NM_030943.4(AMN):c.1056C>A (p.His352Gln) rs773203683
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) rs1034496756
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035
NM_031157.4(HNRNPA1):c.491-3dup rs202119045
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) rs2069367677
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031372.4(HNRNPDL):c.101_109del (p.Pro34_Arg36del) rs759911561
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup) rs761087054
NM_031844.3(HNRNPU):c.622C>G (p.Gln208Glu) rs1573337552
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg) rs1018314879
NM_031885.5(BBS2):c.117+7G>A rs780862523
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) rs368138622
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) rs192007013
NM_031885.5(BBS2):c.1413A>G (p.Val471=) rs35294865
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) rs181107019
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) rs750146549
NM_031885.5(BBS2):c.1845T>C (p.Ala615=) rs1964133464
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031885.5(BBS2):c.2059+12_2059+13del rs746917866
NM_031885.5(BBS2):c.216C>T (p.Asn72=) rs375853147
NM_031885.5(BBS2):c.342A>G (p.Arg114=) rs2144192731
NM_031885.5(BBS2):c.365C>T (p.Ala122Val) rs17856449
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.472del rs587777826
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) rs749148042
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.774del (p.Asn258fs) rs777218224
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) rs1964870972
NM_031885.5(BBS2):c.941-8C>G rs373354290
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) rs1964301074
NM_031924.8(RSPH3):c.992A>G (p.His331Arg) rs78116655
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly) rs1555607156
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe) rs1261005517
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser) rs2145827137
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp) rs1258403817
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His) rs760589795
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.93+8T>G rs1567878012
NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=) rs10422855
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=) rs138029547
NM_032119.4(ADGRV1):c.14719G>T (p.Val4907Phe) rs373391623
NM_032119.4(ADGRV1):c.7571T>A (p.Val2524Glu) rs191036195
NM_032119.4(ADGRV1):c.8471G>C (p.Gly2824Ala) rs975296721
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val) rs555466095
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu) rs769373495
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del) rs141875736
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser) rs148186114
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val) rs771823743
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter) rs587777070
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile) rs1568027491
NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr) rs56003090
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) rs137853092
NM_032387.5(WNK4):c.1818G>A (p.Gly606=) rs149633706
NM_032387.5(WNK4):c.204G>A (p.Gly68=) rs200209645
NM_032387.5(WNK4):c.2310A>G (p.Pro770=) rs1597903569
NM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys) rs200519604
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) rs556540177
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln) rs200363140
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del) rs938490986
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr) rs763833617
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser) rs763833617
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp) rs772562892
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln) rs749277750
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu) rs749277750
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg) rs767473953
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro) rs115866745
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg) rs202189103
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly) rs1488400493
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala) rs771698977
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del) rs2151125733
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp) rs141450907
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val) rs1185482904
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala) rs769494671
NM_032444.4(SLX4):c.320C>T (p.Ala107Val) rs2040813512
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu) rs1433489753
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg) rs959148678
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala) rs1003342051
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del) rs775548839
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu) rs201826765
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp) rs753015235
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg) rs137976282
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn) rs1158558800
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn) rs765104618
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys) rs749082427
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg) rs1307537720
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del) rs750613465
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu) rs112694849
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del) rs760517738
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr) rs2151116711
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln) rs1376464922
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu) rs878855163
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys) rs767720336
NM_032444.4(SLX4):c.5480del (p.Gly1827fs) rs780024167
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_032444.4(SLX4):c.985_987del (p.Ser329del) rs1289726066
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.276C>G (p.His92Gln) rs201992413
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032531.4(KIRREL3):c.655G>A (p.Val219Met) rs200789628
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn) rs1008949819
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro) rs1187897430
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro) rs779148735
NM_032578.4(MYPN):c.217G>C (p.Asp73His) rs2042244267
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln) rs138583865
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala) rs1131691857
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr) rs1196958004
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu) rs193022869
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln) rs150414382
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys) rs372824930
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr) rs1284303981
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser) rs200390297
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val) rs1564702434
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala) rs2133994610
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) rs199476416
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile) rs777519016
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe) rs1564704607
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn) rs1454105180
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) rs794727304
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr) rs560119421
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly) rs745678026
NM_032608.7(MYO18B):c.1244G>T (p.Gly415Val) rs2145588441
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) rs764658486
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_032801.5(JAM3):c.410-14_410-13insCTT rs3216140
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.766C>T (p.Arg256Trp) rs1261931467
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe) rs200179131
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_033028.5(BBS4):c.1013G>T (p.Gly338Val) rs750983167
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup) rs752690768
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1248G>A (p.Glu416=) rs914591602
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly) rs753145823
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro) rs776847398
NM_033028.5(BBS4):c.1493del (p.Pro498fs) rs777455492
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs) rs1463405501
NM_033028.5(BBS4):c.24+1G>T rs759520211
NM_033028.5(BBS4):c.428T>A (p.Val143Asp) rs2065601390
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys) rs756915341
NM_033028.5(BBS4):c.712-15G>C rs2065814889
NM_033028.5(BBS4):c.943T>C (p.Leu315=) rs1433729329
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293
NM_033100.4(CDHR1):c.2546AGA[2] (p.Lys851del) rs150926842
NM_033109.5(PNPT1):c.1285-4del rs745754666
NM_033124.5(CCDC65):c.2T>A (p.Met1Lys) rs1939435183
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033337.3(CAV3):c.*658T>A rs556491932
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn) rs1060502315
NM_033337.3(CAV3):c.254C>T (p.Ala85Val) rs1553614440
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg) rs1707652057
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) rs773309037
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) rs104886101
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys) rs764743086
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=) rs2147809019
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) rs2147809070
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) rs2147810410
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) rs104886143
NM_033380.3(COL4A5):c.2042-2A>G rs2066636714
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) rs878853089
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) rs2147865597
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.3016+2T>C rs2147869403
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) rs1603298993
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) rs2147935344
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) rs2147953060
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs) rs2147956419
NM_033380.3(COL4A5):c.3604+3A>T rs1569505614
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) rs2147959471
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs) rs2147975121
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs) rs1569507535
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His) rs753765957
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) rs2147991184
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) rs104886279
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) rs281874747
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4952A>G (p.Tyr1651Cys) rs2068717823
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) rs2068718016
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu) rs2068718130
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) rs2148003771
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) rs1556404027
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) rs267606310
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) rs2147776175
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.891+1G>T rs104886451
NM_033380.3(COL4A5):c.892-16del rs775131776
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) rs2147777425
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) rs2147657533
NM_033380.3(COL4A5):c.935del (p.Pro312fs) rs1556407078
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) rs3746803
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs) rs774069989
NM_033550.4(TP53RK):c.598C>G (p.Leu200Val) rs2063182741
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs) rs746470735
NM_052813.5(CARD9):c.944G>A (p.Arg315His) rs141105175
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg) rs747612049
NM_052867.4(NALCN):c.1135-10G>A rs114020374
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052867.4(NALCN):c.4104-19dup rs113354194
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_053025.4(MYLK):c.-236C>A rs929104663
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys) rs140100605
NM_053025.4(MYLK):c.1304G>A (p.Cys435Tyr) rs1180342445
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1968G>C (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) rs768134055
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) rs758966808
NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1]) rs1560093606
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr) rs2059054509
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) rs578009736
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp) rs1347636672
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.5092A>C (p.Asn1698His) rs1375643348
NM_053025.4(MYLK):c.5369-20TCT[2] rs776729239
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu) rs202126043
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_054012.4(ASS1):c.363G>A (p.Lys121=) rs2131874200
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_057176.3(BSND):c.262G>T (p.Glu88Ter) rs771232166
NM_057176.3(BSND):c.272+1G>T rs1007109925
NM_057176.3(BSND):c.467C>A (p.Ala156Asp) rs1644395855
NM_057176.3(BSND):c.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.868A>G (p.Lys290Glu) rs1285206495
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) rs786204086
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys) rs876659265
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr) rs1555593472
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr) rs876659936
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys) rs876658197
NM_058216.3(RAD51C):c.352A>G (p.Met118Val) rs2143725777
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr) rs755879664
NM_058216.3(RAD51C):c.493A>G (p.Met165Val) rs1555594766
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val) rs786201828
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup) rs776534031
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro) rs1032681872
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp) rs786201177
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu) rs863224806
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys) rs1567799818
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser) rs1331134740
NM_058216.3(RAD51C):c.904+4G>T rs2048894318
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup) rs540307276
NM_079420.3(MYL1):c.1dup (p.Met1fs) rs544557603
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) rs1249919137
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080911.3(UNG):c.544A>G (p.Ile182Val) rs545691651
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) rs1211073576
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_130849.4(SLC39A4):c.475-2A>G rs1554873649
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer) rs2130799141
NM_130849.4(SLC39A4):c.977-1G>A rs2130798128
NM_133171.5(ELMO2):c.1279+19del rs76979752
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) rs946957597
NM_133261.3(GIPC3):c.706-3dup rs200925508
NM_133379.5(TTN):c.10559C>A (p.Pro3520Gln) rs189445085
NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly) rs201757429
NM_133379.5(TTN):c.12276C>T (p.Pro4092=) rs902600429
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter) rs372994805
NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs) rs1460696675
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_133379.5(TTN):c.15304A>G (p.Thr5102Ala) rs371168275
NM_133379.5(TTN):c.15676G>C (p.Asp5226His) rs147492121
NM_133379.5(TTN):c.16531G>T (p.Glu5511Ter) rs794729307
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133459.4(CCBE1):c.654+5G>C rs150596993
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs) rs924232072
NM_138413.4(HOGA1):c.603+1G>A rs2135722313
NM_138413.4(HOGA1):c.834+2T>C rs947352856
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10105T>C (p.Ser3369Pro) rs2150962340
NM_138694.4(PKHD1):c.10150A>C (p.Asn3384His) rs752841263
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser) rs1581894231
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=) rs2150414839
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11378C>T (p.Ala3793Val) rs1299129734
NM_138694.4(PKHD1):c.11533C>T (p.Pro3845Ser) rs548244367
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=) rs779069598
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=) rs2150241037
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=) rs1393535530
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1478TCCGAG[3] (p.Val495_Arg496dup) rs1554217514
NM_138694.4(PKHD1):c.1603-14_1603-13del rs748577508
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.2134G>C (p.Val712Leu) rs144455663
NM_138694.4(PKHD1):c.2217G>A (p.Pro739=) rs373367366
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) rs794727447
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3734C>A (p.Ala1245Glu) rs140815495
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=) rs756553815
NM_138694.4(PKHD1):c.4273C>T (p.Leu1425Phe) rs565836750
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn) rs370608473
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.488G>T (p.Arg163Ile) rs932913425
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val) rs749029593
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter) rs1801882752
NM_138694.4(PKHD1):c.528-9del rs753686281
NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu) rs1288521396
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=) rs758616921
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser) rs1562140504
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5751G>A (p.Gln1917=) rs398124489
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp) rs543037335
NM_138694.4(PKHD1):c.5786C>T (p.Ser1929Phe) rs1791759592
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs) rs2127768101
NM_138694.4(PKHD1):c.6333-13dup rs138161138
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter) rs1783006864
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=) rs900150542
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6866-4_6866-2del rs748114217
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=) rs373795139
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg) rs201881567
NM_138694.4(PKHD1):c.7301C>T (p.Ala2434Val) rs753450358
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138694.4(PKHD1):c.7750G>A (p.Val2584Ile) rs748895723
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly) rs200432861
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu) rs1786704837
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser) rs1582469785
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.9095C>A (p.Ala3032Asp) rs1444969670
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9830-2A>G rs890681861
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg) rs1307732644
NM_138704.4(NSMCE3):c.41_42delinsCC (p.Gln14Pro) rs2043569702
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp) rs587701622
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser) rs200645384
NM_139058.3(ARX):c.1406_1415del (p.Ala469fs) rs2147320332
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139281.3(WDR36):c.1717-20_1717-19insATATA rs33919278
NM_144573.4(NEXN):c.*418del rs368295679
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala) rs1040085867
NM_144573.4(NEXN):c.1111C>A (p.Pro371Thr) rs1223883098
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.137del (p.Asn46fs) rs2102092061
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) rs767792289
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val) rs750183004
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1640T>A (p.Ile547Asn) rs753636624
NM_144573.4(NEXN):c.1661A>G (p.Lys554Arg) rs1651445427
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys) rs377257742
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.86G>T (p.Gly29Val) rs876657931
NM_144573.4(NEXN):c.962del (p.Arg321fs) rs915318065
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144585.4(SLC22A12):c.1271C>T (p.Thr424Met) rs150779326
NM_144585.4(SLC22A12):c.1599-17G>A rs114845820
NM_144585.4(SLC22A12):c.507-8_511del rs1404199426
NM_144585.4(SLC22A12):c.730G>A (p.Gly244Ser) rs756381492
NM_144596.4(TTC8):c.1464G>A (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144596.4(TTC8):c.488C>T (p.Thr163Met) rs758942370
NM_144596.4(TTC8):c.983C>T (p.Ala328Val) rs755533153
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val) rs2136894252
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp) rs199701571
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) rs372826296
NM_144687.4(NLRP12):c.2072+2_2072+3insTT rs104895565
NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr) rs1380366925
NM_144687.4(NLRP12):c.3088C>T (p.Arg1030Ter) rs201619538
NM_144701.3(IL23R):c.492-9del rs551451479
NM_144773.4(PROKR2):c.1042A>C (p.Met348Leu) rs368145317
NM_144773.4(PROKR2):c.1050G>A (p.Leu350=) rs779816527
NM_144773.4(PROKR2):c.1111G>A (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.525C>A (p.Ala175=) rs3746683
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) rs138031432
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg) rs752337482
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1285C>G (p.His429Asp) rs375082054
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1300+4C>T rs1207963576
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) rs750104212
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser) rs2046880742
NM_144997.7(FLCN):c.1353T>C (p.Pro451=) rs1597580172
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe) rs750535468
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe) rs1360467783
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg) rs2046824022
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) rs201056799
NM_144997.7(FLCN):c.1715C>A (p.Pro572His) rs1567804824
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln) rs1048214486
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) rs587778365
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln) rs1567822604
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe) rs1229735191
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro) rs878855219
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1]) rs1209487287
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu) rs1026067642
NM_144997.7(FLCN):c.756G>A (p.Ala252=) rs746664975
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.798C>T (p.Gly266=) rs2047092959
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser) rs779449668
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg) rs748031634
NM_144997.7(FLCN):c.871+13T>C rs770537219
NM_145038.5(DRC1):c.109dup (p.Gln37fs) rs750136163
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs) rs1558457993
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) rs763631774
NM_145207.3(AFG2A):c.1069G>T (p.Gly357Ter) rs755744719
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.2642A>T (p.Tyr881Phe) rs750171052
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_148960.3(CLDN19):c.-150C>T rs941943594
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.424C>A (p.Pro142Thr) rs878855227
NM_152383.5(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) rs1397496181
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.569A>C (p.His190Pro) rs755408078
NM_152384.3(BBS5):c.59+5G>A rs2105290053
NM_152384.3(BBS5):c.619-16_619-15del rs762885469
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.757C>A (p.Pro253Thr) rs943754830
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs) rs755184431
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) rs180177360
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) rs1373068816
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs) rs2150736865
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs) rs1553941391
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys) rs199596849
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1507G>A (p.Val503Met) rs374865012
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp) rs2150736114
NM_152618.3(BBS12):c.400G>T (p.Val134Phe) rs1467415217
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg) rs994493028
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala) rs751090202
NM_152713.5(STT3A):c.1775-8dup rs750373548
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile) rs746134081
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del) rs397515340
NM_153212.3(GJB4):c.153del (p.Phe51fs) rs139849901
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys) rs1939731078
NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His) rs1939605927
NM_153240.5(NPHP3):c.155C>T (p.Ala52Val) rs747055547
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu) rs1281178184
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.1dup (p.Met1fs) rs2108008416
NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) rs772613405
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2647C>T (p.His883Tyr) rs886044248
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu) rs903849432
NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln) rs559425353
NM_153240.5(NPHP3):c.3059G>A (p.Gly1020Asp) rs146097715
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly) rs756790389
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) rs141144099
NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) rs369704665
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) rs794727430
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val) rs757964370
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys) rs1465502034
NM_153252.5(BRWD3):c.814-16dup rs751020595
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153766.3(KCNJ1):c.*1C>G
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro) rs150299230
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.162-7del rs376309362
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=) rs140215243
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp) rs1237093879
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp) rs267607647
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn) rs1385994420
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg) rs1651629254
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala) rs886042993
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.161C>T (p.Thr54Met) rs879253992
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala) rs1651785654
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg) rs1023544978
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln) rs59270054
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu) rs1445068583
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile) rs1306829976
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser) rs1553262000
NM_170707.4(LMNA):c.326T>A (p.Val109Glu) rs1649740041
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu) rs397517902
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu) rs1650991296
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly) rs773349450
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn) rs1553265346
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu) rs1558129629
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.853G>T (p.Val285Leu) rs746056534
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu) rs1651454980
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu) rs762653476
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup) rs1362316126
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys) rs796052617
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) rs2123423458
NM_172201.2(KCNE2):c.193G>C (p.Val65Leu) rs199473364
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser) rs895867414
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172351.3(CD46):c.286+27del rs371729129
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) rs201542666
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys) rs587777292
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu) rs2118011839
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) rs587777025
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) rs41283630
NM_173551.5(ANKS6):c.907+6C>T rs372343956
NM_173551.5(ANKS6):c.907+8C>G rs775680028
NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) rs765738085
NM_173560.4(RFX6):c.649T>C (p.Ser217Pro) rs267607012
NM_173630.4(RTTN):c.5319G>C (p.Ala1773=) rs35439940
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter) rs149815227
NM_173689.7(CRB2):c.952G>A (p.Gly318Ser) rs759937525
NM_173842.3(IL1RN):c.300G>A (p.Glu100=) rs776628808
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_174934.4(SCN4B):c.*1410C>T rs886047722
NM_174934.4(SCN4B):c.234+1G>A rs1341627207
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_174936.4(PCSK9):c.-245G>C rs28362201
NM_174936.4(PCSK9):c.1123T>G (p.Cys375Gly) rs1644724189
NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn) rs760947578
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1378_1380delinsATG (p.Val460Met) rs1644733403
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1415C>T (p.Thr472Ile) rs1644734019
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1484G>T (p.Arg495Leu) rs370574590
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu) rs143394031
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter) rs1644743243
NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg) rs376619733
NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu) rs1557499351
NM_174936.4(PCSK9):c.412C>T (p.Pro138Ser) rs780564433
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.467G>A (p.Trp156Ter) rs1557500768
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter) rs1557500771
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) rs372165281
NM_174936.4(PCSK9):c.524-2del rs1644679774
NM_174936.4(PCSK9):c.524-3A>C rs765777205
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.658-2A>C rs371336612
NM_175875.5(SIX5):c.1023C>T (p.Gly341=) rs780345670
NM_175875.5(SIX5):c.1665C>T (p.Ala555=)
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro) rs1600396951
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1158A>T (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1231-15dup rs747444432
NM_176824.3(BBS7):c.1372-19C>G rs1725398365
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser) rs763160690
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg) rs1229720963
NM_176824.3(BBS7):c.22A>T (p.Met8Leu) rs757370927
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly) rs1050167281
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.340A>G (p.Met114Val) rs142305911
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.600C>A (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.934+17T>C rs1165897878
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu) rs1595391071
NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu) rs1060503613
NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr) rs761578934
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) rs1890331241
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) rs200758704
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) rs757837788
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu) rs1023654494
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) rs149558233
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) rs115660509
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430
NM_178170.3(NEK8):c.1071+13G>C rs775567721
NM_178170.3(NEK8):c.1359_1360del (p.His454fs) rs1282492342
NM_178170.3(NEK8):c.1732+8_1732+10del rs3833163
NM_178170.3(NEK8):c.2068G>A (p.Val690Ile) rs118111521
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His) rs34897947
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del) rs746122572
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_181332.3(NLGN4X):c.187C>A (p.Pro63Thr) rs150566193
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) rs6769457
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) rs1717695462
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642
NM_181426.2(CCDC39):c.610_613del rs1415346246
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) rs771715698
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181741.4(ORC4):c.763-9del rs66919703
NM_182476.3(COQ6):c.164-12dup rs745746077
NM_182476.3(COQ6):c.427G>T (p.Val143Leu) rs144520464
NM_182476.3(COQ6):c.554C>G (p.Ser185Cys) rs1170799064
NM_182476.3(COQ6):c.855T>G (p.Asp285Glu) rs2056604424
NM_182476.3(COQ6):c.877G>A (p.Val293Ile) rs201706177
NM_182548.4(LHFPL5):c.*508A>T rs371866936
NM_182643.3(DLC1):c.2753G>C (p.Arg918Pro) rs779524261
NM_182758.4(WDR72):c.243T>C (p.Val81=) rs1371448411
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182914.3(SYNE2):c.16479+15T>G rs80199180
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu) rs1555564487
NM_182914.3(SYNE2):c.2647-4_2647-3dup rs397726340
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val) rs985101465
NM_182919.4(TICAM1):c.1078CCT[7] (p.Pro367del) rs11466722
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu) rs1207624769
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.3837+9G>A rs756594812
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.951+4T>C rs778135997
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
NM_198076.6(COX20):c.115T>C (p.Leu39=) rs1573315547
NM_198076.6(COX20):c.24T>C (p.Gly8=) rs915488593
NM_198076.6(COX20):c.334C>T (p.His112Tyr) rs2102976812
NM_198076.6(COX20):c.7G>T (p.Ala3Ser) rs201152357
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) rs879255245
NM_198252.3(GSN):c.-9-1942G>A rs1268467289
NM_198252.3(GSN):c.-9-1999_-9-1985del rs751499422
NM_198252.3(GSN):c.-9-2043C>G rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037del rs762432847
NM_198252.3(GSN):c.-9-2057_-9-2037dup rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup rs1371504521
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) rs146365204
NM_198252.3(GSN):c.1762+19G>A rs1274106245
NM_198252.3(GSN):c.1762+20del rs895358104
NM_198252.3(GSN):c.1850G>A (p.Arg617His) rs9696578
NM_198252.3(GSN):c.1887+11G>T rs147527479
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) rs2133938132
NM_198252.3(GSN):c.2137del (p.Asp713fs) rs750858951
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) rs138153246
NM_198252.3(GSN):c.397G>A (p.Val133Met) rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu) rs368197143
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) rs1355688870
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) rs756193920
NM_198252.3(GSN):c.886+19G>A rs200255784
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) rs751431867
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu) rs117897081
NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr) rs1043983959
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.2021G>A (p.Arg674Gln) rs2134469442
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp) rs879255643
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter) rs754785664
NM_198428.3(BBS9):c.1245C>A (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe) rs751604593
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) rs762511626
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter) rs863224534
NM_198428.3(BBS9):c.1468del (p.Tyr490fs) rs1454474832
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) rs2128667543
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1790-17T>C rs765367261
NM_198428.3(BBS9):c.1799G>A (p.Arg600His) rs749018243
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) rs370925964
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.195C>A (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys) rs184994140
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) rs772347593
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) rs2128756856
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) rs1274816953
NM_198428.3(BBS9):c.20G>A (p.Arg7His) rs746340993
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu) rs746340993
NM_198428.3(BBS9):c.2115+17dup rs1826376756
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) rs1393453305
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.396G>C (p.Gln132His) rs10255104
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) rs750278720
NM_198428.3(BBS9):c.531C>A (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.531C>T (p.Gly177=) rs113518488
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) rs2128312652
NM_198428.3(BBS9):c.702+15dup rs756949696
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly) rs137905815
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly) rs202229910
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) rs756521084
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile) rs1565682626
NM_198578.4(LRRK2):c.2689+19_2689+20dup rs66810434
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.3497-8del rs201739149
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) rs145364431
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) rs111739194
NM_198578.4(LRRK2):c.6844-8dup rs72546334
NM_198578.4(LRRK2):c.7146A>C (p.Lys2382Asn) rs919570241
NM_198578.4(LRRK2):c.7430G>A (p.Arg2477Gln) rs146428335
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466
NM_198904.4(GABRG2):c.1112A>C (p.Lys371Thr) rs796052512
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe) rs758867274
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter) rs755348845
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) rs751935649
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2843-3dup rs776525385
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201384.3(PLEC):c.12367_12369del (p.Glu4123del) rs782364560
NM_201384.3(PLEC):c.4373G>T (p.Arg1458Leu) rs782720526
NM_201400.4(EEF2KMT):c.*891A>T rs3187779
NM_201525.4(ADGRG1):c.1775G>A (p.Arg592Gln) rs140298537
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) rs2044043566
NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) rs1057517931
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201596.3(CACNB2):c.1055-7T>C rs201997903
NM_201596.3(CACNB2):c.121-2A>T rs750396182
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro) rs766377211
NM_201596.3(CACNB2):c.1754A>G (p.His585Arg) rs1412805204
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs) rs750015594
NM_201596.3(CACNB2):c.313G>A (p.Ala105Thr) rs773650491
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile) rs747480172
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val) rs376636577
NM_201596.3(CACNB2):c.410G>C (p.Gly137Ala) rs754596850
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu) rs375425461
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922
NM_203288.2(RP9):c.32G>A (p.Gly11Glu) rs575755283
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter) rs1793021342
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) rs767639108
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) rs760902978
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) rs1656163649
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) rs369806765
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) rs552400144
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) rs1162070622
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) rs1209837469
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val) rs1033001525
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala) rs372777373
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu) rs7327915
NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu) rs377001164
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His) rs371827710
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His) rs886043214
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg) rs886042926
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser) rs115492820
NM_207361.6(FREM2):c.787G>A (p.Gly263Ser) rs752025828
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp) rs1869591293
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) rs761729774
NM_212482.4(FN1):c.1449G>A (p.Gln483=) rs749775069
NM_212482.4(FN1):c.148+16G>A rs367674539
NM_212482.4(FN1):c.1481T>C (p.Met494Thr) rs2064511350
NM_212482.4(FN1):c.1942-38GT[12] rs5838511
NM_212482.4(FN1):c.1942-38GT[13] rs5838511
NM_212482.4(FN1):c.1942-38GT[14] rs5838511
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) rs770505069
NM_212482.4(FN1):c.2299+3A>T rs2062278053
NM_212482.4(FN1):c.2518+12G>C rs7570208
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) rs137854488
NM_212482.4(FN1):c.2967G>C (p.Leu989=) rs372040503
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) rs144581583
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu) rs1334066739
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu) rs202245868
NM_212482.4(FN1):c.5164+3A>G rs2105944563
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs) rs771111687
NM_212482.4(FN1):c.5964C>T (p.Ile1988=) rs143393843
NM_212482.4(FN1):c.6507G>A (p.Pro2169=) rs145436721
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val) rs17449032
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys) rs759085028
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del) rs1278884339
NM_212482.4(FN1):c.7363-20del rs752005289
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly) rs67681514
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs) rs1564568302
NM_213653.4(HJV):c.187C>T (p.Arg63Ter) rs1652592444
NM_213653.4(HJV):c.220del (p.Val74fs) rs1553769758
NM_213655.5(WNK1):c.2328_2344del (p.Pro777fs) rs1371980928
NM_213655.5(WNK1):c.2511G>A (p.Pro837=) rs1024009612
NM_213655.5(WNK1):c.2568C>G (p.His856Gln) rs767616683
NM_213655.5(WNK1):c.2684C>G (p.Thr895Ser) rs370517971
NM_213655.5(WNK1):c.2701A>T (p.Ile901Leu) rs142624740
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-18C>T rs775303012
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-24A>C rs529852688
NR_003051.3(RMRP):n.-24A>G rs529852688
NR_003051.3(RMRP):n.-24_-10dup rs727502776
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-2G>T rs958637129
NR_003051.3(RMRP):n.-31A>G rs145463993
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.-9T>C rs12552387
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.87C>G rs545284014
m.3271T>C rs199474658

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