NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
|
rs112613526
|
0.00622
|
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)
|
rs35977354
|
0.00462
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_005529.7(HSPG2):c.4221+61G>T
|
rs56270915
|
0.00350
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_002296.4(LBR):c.995C>T (p.Ala332Val)
|
rs141647564
|
0.00293
|
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
|
rs146844731
|
0.00236
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)
|
rs149325238
|
0.00190
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp)
|
rs72624967
|
0.00147
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_001006658.3(CR2):c.2903-3C>A
|
rs372214909
|
0.00128
|
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp)
|
rs118106526
|
0.00128
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)
|
rs111356679
|
0.00119
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)
|
rs138007924
|
0.00097
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001371389.2(FBXO41):c.1390C>T (p.Arg464Cys)
|
rs199960192
|
0.00091
|
NM_002626.6(PFKL):c.1907C>A (p.Thr636Lys)
|
rs141250471
|
0.00089
|
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu)
|
rs149066296
|
0.00086
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)
|
rs200961157
|
0.00081
|
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)
|
rs150000610
|
0.00078
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys)
|
rs200180227
|
0.00077
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)
|
rs138836357
|
0.00069
|
NM_000637.5(GSR):c.694G>A (p.Gly232Ser)
|
rs8190976
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys)
|
rs138900040
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_002626.6(PFKL):c.2212G>A (p.Glu738Lys)
|
rs140555552
|
0.00057
|
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro)
|
rs200243989
|
0.00055
|
NM_020297.4(ABCC9):c.2770-13A>G
|
rs184123387
|
0.00055
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
|
rs541606391
|
0.00054
|
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met)
|
rs147860819
|
0.00053
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys)
|
rs147393483
|
0.00050
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00045
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)
|
rs11557669
|
0.00044
|
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn)
|
rs371825362
|
0.00044
|
NR_003051.4(RMRP):n.141A>G
|
rs578091934
|
0.00042
|
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588
|
0.00041
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_000637.5(GSR):c.697C>T (p.Arg233Cys)
|
rs145851500
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_003978.5(PSTPIP1):c.418-6C>A
|
rs200018722
|
0.00034
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)
|
rs369813654
|
0.00031
|
NM_002706.6(PPM1B):c.481C>G (p.Gln161Glu)
|
rs34745955
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)
|
rs184910011
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys)
|
rs143160805
|
0.00030
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys)
|
rs200239560
|
0.00026
|
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
rs372091476
|
0.00026
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp)
|
rs142864834
|
0.00025
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)
|
rs145266399
|
0.00024
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His)
|
rs144692310
|
0.00024
|
NM_014874.4(MFN2):c.1101G>C (p.Gln367His)
|
rs373211062
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys)
|
rs771264933
|
0.00022
|
NM_005529.7(HSPG2):c.283G>C (p.Glu95Gln)
|
rs145704241
|
0.00022
|
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)
|
rs201715539
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)
|
rs375566943
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp)
|
rs959344565
|
0.00021
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001355436.2(SPTB):c.1182+3A>G
|
rs45556435
|
0.00019
|
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu)
|
rs139124254
|
0.00019
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val)
|
rs191280213
|
0.00019
|
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp)
|
rs145185113
|
0.00019
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00019
|
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys)
|
rs144688616
|
0.00019
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr)
|
rs202196567
|
0.00018
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_153700.2(STRC):c.4466A>C (p.Glu1489Ala)
|
rs200009157
|
0.00017
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr)
|
rs764822533
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser)
|
rs775736052
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
|
rs147858673
|
0.00016
|
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)
|
rs774277300
|
0.00016
|
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)
|
rs142068634
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro)
|
rs758494581
|
0.00015
|
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)
|
rs746380940
|
0.00015
|
NM_001358263.1(HK1):c.28-3329G>A
|
rs192516988
|
0.00015
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
0.00015
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_002148.4(HOXD10):c.130G>A (p.Gly44Arg)
|
rs145541578
|
0.00014
|
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)
|
rs200188483
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu)
|
rs375576650
|
0.00014
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met)
|
rs767665300
|
0.00013
|
NM_001256317.3(TMPRSS3):c.47G>A (p.Arg16Gln)
|
rs369418733
|
0.00013
|
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser)
|
rs201569378
|
0.00013
|
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)
|
rs768076848
|
0.00013
|
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys)
|
rs371344688
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu)
|
rs150039066
|
0.00013
|
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
0.00013
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
0.00013
|
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val)
|
rs368003929
|
0.00012
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)
|
rs367549284
|
0.00012
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)
|
rs200619215
|
0.00012
|
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)
|
rs138509817
|
0.00012
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
|
rs148199798
|
0.00011
|
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr)
|
rs140188204
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe)
|
rs992621550
|
0.00011
|
NM_001145809.2(MYH14):c.266T>C (p.Leu89Pro)
|
rs988356194
|
0.00011
|
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln)
|
rs376432305
|
0.00011
|
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)
|
rs143762350
|
0.00011
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn)
|
rs200508249
|
0.00011
|
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)
|
rs141725364
|
0.00011
|
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)
|
rs374073530
|
0.00011
|
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)
|
rs201179101
|
0.00011
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00011
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp)
|
rs769208706
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu)
|
rs373526599
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn)
|
rs200529208
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr)
|
rs145474376
|
0.00010
|
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met)
|
rs76655666
|
0.00010
|
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln)
|
rs148147002
|
0.00010
|
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter)
|
rs150738413
|
0.00010
|
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)
|
rs144907002
|
0.00010
|
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)
|
rs368381292
|
0.00009
|
NM_000059.4(BRCA2):c.7435+23A>G
|
rs761412178
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000178.4(GSS):c.911C>T (p.Thr304Ile)
|
rs374498290
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001145809.2(MYH14):c.2651A>G (p.Tyr884Cys)
|
rs373457292
|
0.00009
|
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser)
|
rs377462520
|
0.00009
|
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)
|
rs186264035
|
0.00009
|
NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala)
|
rs749123042
|
0.00009
|
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)
|
rs79805025
|
0.00009
|
NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala)
|
rs145958673
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp)
|
rs114342311
|
0.00009
|
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala)
|
rs878854979
|
0.00009
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)
|
rs139817477
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000637.5(GSR):c.878C>G (p.Ser293Cys)
|
rs762024253
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)
|
rs730881019
|
0.00008
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
rs387907566
|
0.00007
|
NM_000541.5(SAG):c.944+5G>A
|
rs374048703
|
0.00007
|
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met)
|
rs201753543
|
0.00007
|
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)
|
rs202235611
|
0.00007
|
NM_001375808.2(LPIN2):c.2174+10C>T
|
rs201227858
|
0.00007
|
NM_001457.4(FLNB):c.1216G>A (p.Val406Met)
|
rs367842487
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
0.00007
|
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)
|
rs769655497
|
0.00006
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg)
|
rs397508788
|
0.00006
|
NM_000637.5(GSR):c.1565G>A (p.Arg522His)
|
rs758486247
|
0.00006
|
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His)
|
rs566769898
|
0.00006
|
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)
|
rs201284350
|
0.00006
|
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu)
|
rs761049480
|
0.00006
|
NM_001145809.2(MYH14):c.3433C>T (p.Arg1145Trp)
|
rs773117828
|
0.00006
|
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu)
|
rs200491706
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile)
|
rs749503285
|
0.00006
|
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile)
|
rs371366196
|
0.00006
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln)
|
rs201741634
|
0.00006
|
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met)
|
rs373758040
|
0.00006
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132
|
0.00006
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_002109.6(HARS1):c.52G>A (p.Val18Met)
|
rs774632798
|
0.00006
|
NM_002626.6(PFKL):c.175G>A (p.Val59Met)
|
rs150271960
|
0.00006
|
NM_002907.4(RECQL):c.1285A>G (p.Met429Val)
|
rs368679142
|
0.00006
|
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp)
|
rs768966753
|
0.00006
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met)
|
rs542600464
|
0.00006
|
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys)
|
rs142651007
|
0.00006
|
NM_005548.3(KARS1):c.222+3G>A
|
rs767391172
|
0.00006
|
NM_005897.3(IPP):c.1411A>G (p.Met471Val)
|
rs572992251
|
0.00006
|
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile)
|
rs142688976
|
0.00006
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
NM_016579.4(CD320):c.344A>G (p.Asp115Gly)
|
rs939686446
|
0.00006
|
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val)
|
rs200632524
|
0.00006
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)
|
rs199636312
|
0.00006
|
NM_144596.4(TTC8):c.579+44G>A
|
rs537295982
|
0.00006
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp)
|
rs80358771
|
0.00005
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr)
|
rs80358801
|
0.00005
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile)
|
rs758673796
|
0.00005
|
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln)
|
rs781605975
|
0.00005
|
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)
|
rs773929129
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000922.4(PDE3B):c.409A>G (p.Thr137Ala)
|
rs376962336
|
0.00005
|
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser)
|
rs371925633
|
0.00005
|
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys)
|
rs767984672
|
0.00005
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001355436.2(SPTB):c.5090G>A (p.Arg1697Gln)
|
rs199551302
|
0.00005
|
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg)
|
rs377698556
|
0.00005
|
NM_002471.4(MYH6):c.1703G>A (p.Arg568His)
|
rs376291577
|
0.00005
|
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)
|
rs398123982
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004863.4(SPTLC2):c.1628G>A (p.Arg543Gln)
|
rs763898397
|
0.00005
|
NM_005591.4(MRE11):c.1852A>G (p.Met618Val)
|
rs375630981
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys)
|
rs112869526
|
0.00005
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
NM_000038.6(APC):c.7594C>T (p.His2532Tyr)
|
rs375080917
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met)
|
rs374547489
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
NM_000297.4(PKD2):c.1555G>A (p.Val519Met)
|
rs148920907
|
0.00004
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)
|
rs141880790
|
0.00004
|
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)
|
rs769448889
|
0.00004
|
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)
|
rs200885306
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser)
|
rs149762411
|
0.00004
|
NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln)
|
rs139617666
|
0.00004
|
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=)
|
rs369632433
|
0.00004
|
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)
|
rs770801747
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001084.5(PLOD3):c.2171C>T (p.Thr724Met)
|
rs375797901
|
0.00004
|
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr)
|
rs761827492
|
0.00004
|
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His)
|
rs1004130638
|
0.00004
|
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr)
|
rs375594801
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly)
|
rs367888853
|
0.00004
|
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)
|
rs371621174
|
0.00004
|
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys)
|
rs374883160
|
0.00004
|
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn)
|
rs747040987
|
0.00004
|
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)
|
rs576658764
|
0.00004
|
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser)
|
rs566164007
|
0.00004
|
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg)
|
rs760077990
|
0.00004
|
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val)
|
rs374118649
|
0.00004
|
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)
|
rs140812463
|
0.00004
|
NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn)
|
rs758251388
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser)
|
rs774891463
|
0.00004
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075
|
0.00004
|
NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser)
|
rs771945509
|
0.00004
|
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys)
|
rs565853695
|
0.00004
|
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala)
|
rs757261572
|
0.00004
|
NM_006579.3(EBP):c.188G>A (p.Arg63Gln)
|
rs782638360
|
0.00004
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe)
|
rs780855079
|
0.00004
|
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr)
|
rs539692445
|
0.00004
|
NM_018979.4(WNK1):c.4265T>G (p.Val1422Gly)
|
rs779654189
|
0.00004
|
NM_018979.4(WNK1):c.5462C>T (p.Ala1821Val)
|
rs371264719
|
0.00004
|
NM_019075.4(UGT1A10):c.855+44683G>A
|
rs373408916
|
0.00004
|
NM_021625.5(TRPV4):c.711A>G (p.Arg237=)
|
rs927188562
|
0.00004
|
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr)
|
rs368381520
|
0.00004
|
NM_022489.4(INF2):c.2765G>A (p.Arg922His)
|
rs749197190
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys)
|
rs142273664
|
0.00004
|
NM_177438.3(DICER1):c.1583T>C (p.Ile528Thr)
|
rs143099538
|
0.00004
|
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)
|
rs140023414
|
0.00004
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000143.4(FH):c.1462G>A (p.Glu488Lys)
|
rs201115573
|
0.00003
|
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)
|
rs1413579895
|
0.00003
|
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)
|
rs747321794
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg)
|
rs373446893
|
0.00003
|
NM_000314.8(PTEN):c.-28C>T
|
rs764917503
|
0.00003
|
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys)
|
rs765891978
|
0.00003
|
NM_000431.4(MVK):c.974G>A (p.Arg325His)
|
rs374686559
|
0.00003
|
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met)
|
rs371278091
|
0.00003
|
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)
|
rs367657406
|
0.00003
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met)
|
rs143120209
|
0.00003
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
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.4340T>A (p.Val1447Glu)
|
rs1397796355
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000546.6(TP53):c.105G>C (p.Leu35Phe)
|
rs121912661
|
0.00003
|
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln)
|
rs886049741
|
0.00003
|
NM_000558.5(HBA1):c.364G>A (p.Val122Met)
|
rs63751008
|
0.00003
|
NM_000637.5(GSR):c.1261A>G (p.Ile421Val)
|
rs199709765
|
0.00003
|
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)
|
rs771590345
|
0.00003
|
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg)
|
rs771342044
|
0.00003
|
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys)
|
rs587781668
|
0.00003
|
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)
|
rs765934383
|
0.00003
|
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys)
|
rs782361719
|
0.00003
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys)
|
rs370001536
|
0.00003
|
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr)
|
rs752004128
|
0.00003
|
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys)
|
rs752732851
|
0.00003
|
NM_001243133.2(NLRP3):c.-72G>A
|
rs200386207
|
0.00003
|
NM_001267550.2(TTN):c.45940A>G (p.Met15314Val)
|
rs1391292606
|
0.00003
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
NM_001355436.2(SPTB):c.5668G>A (p.Asp1890Asn)
|
rs757030587
|
0.00003
|
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser)
|
rs572309256
|
0.00003
|
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)
|
rs773132030
|
0.00003
|
NM_001377.3(DYNC2H1):c.11509A>G (p.Lys3837Glu)
|
rs1434517868
|
0.00003
|
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys)
|
rs765336353
|
0.00003
|
NM_001377.3(DYNC2H1):c.5180T>C (p.Ile1727Thr)
|
rs1478814855
|
0.00003
|
NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys)
|
rs779111999
|
0.00003
|
NM_001377229.1(DISP1):c.559G>A (p.Asp187Asn)
|
rs758163679
|
0.00003
|
NM_001395413.1(POR):c.1346C>T (p.Pro449Leu)
|
rs72557935
|
0.00003
|
NM_001457.4(FLNB):c.5147C>T (p.Pro1716Leu)
|
rs201370865
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr)
|
rs398123956
|
0.00003
|
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn)
|
rs780097120
|
0.00003
|
NM_014629.4(ARHGEF10):c.2728A>G (p.Ile910Val)
|
rs1480757811
|
0.00003
|
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys)
|
rs139235893
|
0.00003
|
NM_016239.4(MYO15A):c.3743G>A (p.Arg1248Gln)
|
rs751800816
|
0.00003
|
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg)
|
rs551015347
|
0.00003
|
NM_024753.5(TTC21B):c.62A>G (p.His21Arg)
|
rs757283243
|
0.00003
|
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro)
|
rs200842643
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_181523.3(PIK3R1):c.197G>A (p.Arg66Lys)
|
rs761122171
|
0.00003
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00003
|
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala)
|
rs764928878
|
0.00003
|
NM_194248.3(OTOF):c.2771A>G (p.Glu924Gly)
|
rs1471175454
|
0.00003
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
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.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)
|
rs369289966
|
0.00002
|
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)
|
rs369183199
|
0.00002
|
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr)
|
rs774364108
|
0.00002
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
NM_000518.5(HBB):c.*93A>T
|
rs901033731
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004
|
0.00002
|
NM_001145809.2(MYH14):c.4615C>T (p.Arg1539Cys)
|
rs770767114
|
0.00002
|
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro)
|
rs779093187
|
0.00002
|
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr)
|
rs1219872673
|
0.00002
|
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)
|
rs367769671
|
0.00002
|
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)
|
rs375659466
|
0.00002
|
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys)
|
rs764276622
|
0.00002
|
NM_001291303.3(FAT4):c.9800A>G (p.His3267Arg)
|
rs773545119
|
0.00002
|
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys)
|
rs755636829
|
0.00002
|
NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser)
|
rs773216992
|
0.00002
|
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu)
|
rs781778980
|
0.00002
|
NM_001384140.1(PCDH15):c.4671+1559C>T
|
rs368397508
|
0.00002
|
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.545A>G (p.Asn182Ser)
|
rs782763044
|
0.00002
|
NM_001457.4(FLNB):c.1897A>G (p.Met633Val)
|
rs937051879
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys)
|
rs774017621
|
0.00002
|
NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile)
|
rs55948542
|
0.00002
|
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe)
|
rs765342413
|
0.00002
|
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly)
|
rs1324156287
|
0.00002
|
NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys)
|
rs1456373630
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp)
|
rs201098122
|
0.00002
|
NM_005422.4(TECTA):c.3739A>C (p.Asn1247His)
|
rs781691033
|
0.00002
|
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His)
|
rs144411636
|
0.00002
|
NM_005529.7(HSPG2):c.11291G>A (p.Arg3764His)
|
rs149520064
|
0.00002
|
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln)
|
rs539990898
|
0.00002
|
NM_005529.7(HSPG2):c.7307C>A (p.Thr2436Asn)
|
rs747403733
|
0.00002
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe)
|
rs748876625
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly)
|
rs774138994
|
0.00002
|
NM_016239.4(MYO15A):c.1672G>A (p.Gly558Ser)
|
rs761888570
|
0.00002
|
NM_016239.4(MYO15A):c.2099A>T (p.His700Leu)
|
rs1042721945
|
0.00002
|
NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn)
|
rs782660556
|
0.00002
|
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
|
rs369501114
|
0.00002
|
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp)
|
rs146128481
|
0.00002
|
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)
|
rs762351406
|
0.00002
|
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr)
|
rs779785339
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu)
|
rs369149696
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000038.6(APC):c.3279T>G (p.Phe1093Leu)
|
rs199539973
|
0.00001
|
NM_000038.6(APC):c.532T>A (p.Phe178Ile)
|
rs1060503344
|
0.00001
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
NM_000089.4(COL1A2):c.2122C>T (p.Arg708Trp)
|
rs139199272
|
0.00001
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
NM_000095.3(COMP):c.1148A>G (p.Gln383Arg)
|
rs1221968769
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys)
|
rs576023546
|
0.00001
|
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)
|
rs587782593
|
0.00001
|
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met)
|
rs786202044
|
0.00001
|
NM_000188.3(HK1):c.1220G>A (p.Arg407Gln)
|
rs777108601
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
rs1306636942
|
0.00001
|
NM_000249.4(MLH1):c.786C>G (p.Ile262Met)
|
rs748553134
|
0.00001
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu)
|
rs1200990468
|
0.00001
|
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val)
|
rs763462242
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn)
|
rs371222708
|
0.00001
|
NM_000431.4(MVK):c.945G>A (p.Leu315=)
|
rs752469036
|
0.00001
|
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
0.00001
|
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser)
|
rs886054259
|
0.00001
|
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His)
|
rs146149484
|
0.00001
|
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)
|
rs761613436
|
0.00001
|
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys)
|
rs786202226
|
0.00001
|
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)
|
rs754152822
|
0.00001
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys)
|
rs397508469
|
0.00001
|
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val)
|
rs1562916044
|
0.00001
|
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu)
|
rs397508673
|
0.00001
|
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)
|
rs1325117166
|
0.00001
|
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile)
|
rs769606990
|
0.00001
|
NM_000518.5(HBB):c.*97G>C
|
rs770911771
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000530.8(MPZ):c.646-3C>G
|
rs750756212
|
0.00001
|
NM_000541.5(SAG):c.511A>G (p.Lys171Glu)
|
rs552862207
|
0.00001
|
NM_000551.4(VHL):c.634G>T (p.Gly212Ter)
|
rs1553620389
|
0.00001
|
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile)
|
rs757629968
|
0.00001
|
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)
|
rs750411964
|
0.00001
|
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met)
|
rs777065935
|
0.00001
|
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001035.3(RYR2):c.2941A>G (p.Met981Val)
|
rs768893657
|
0.00001
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg)
|
rs578112440
|
0.00001
|
NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg)
|
rs768130153
|
0.00001
|
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met)
|
rs483352704
|
0.00001
|
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu)
|
rs758557930
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
|
rs782310851
|
0.00001
|
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr)
|
rs375477214
|
0.00001
|
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg)
|
rs536842871
|
0.00001
|
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys)
|
rs907173644
|
0.00001
|
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn)
|
rs781566440
|
0.00001
|
NM_001145809.2(MYH14):c.4307G>A (p.Arg1436Gln)
|
rs773527189
|
0.00001
|
NM_001145809.2(MYH14):c.4921C>T (p.Arg1641Cys)
|
rs748898201
|
0.00001
|
NM_001148.6(ANK2):c.1511C>T (p.Ala504Val)
|
rs1303233267
|
0.00001
|
NM_001235.5(SERPINH1):c.1222C>T (p.Arg408Trp)
|
rs769154335
|
0.00001
|
NM_001244008.2(KIF1A):c.203C>T (p.Ala68Val)
|
rs550027484
|
0.00001
|
NM_001244008.2(KIF1A):c.3816+8C>T
|
rs776328472
|
0.00001
|
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met)
|
rs367734747
|
0.00001
|
NM_001267550.2(TTN):c.31324G>A (p.Glu10442Lys)
|
rs1039659323
|
0.00001
|
NM_001267550.2(TTN):c.36049G>A (p.Glu12017Lys)
|
rs777140466
|
0.00001
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
NM_001267550.2(TTN):c.51551T>C (p.Ile17184Thr)
|
rs752646731
|
0.00001
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr)
|
rs376185524
|
0.00001
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met)
|
rs748535477
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter)
|
rs1584318294
|
0.00001
|
NM_001365536.1(SCN9A):c.2566A>G (p.Ile856Val)
|
rs1218485798
|
0.00001
|
NM_001377.3(DYNC2H1):c.2000A>G (p.Asn667Ser)
|
rs1591291196
|
0.00001
|
NM_001377.3(DYNC2H1):c.899A>G (p.His300Arg)
|
rs775561158
|
0.00001
|
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile)
|
rs576564400
|
0.00001
|
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile)
|
rs1163281900
|
0.00001
|
NM_001384140.1(PCDH15):c.4249G>A (p.Ala1417Thr)
|
rs1284117885
|
0.00001
|
NM_001386125.1(OBSCN):c.14627C>T (p.Thr4876Ile)
|
rs960549121
|
0.00001
|
NM_001457.4(FLNB):c.4717G>A (p.Asp1573Asn)
|
rs373528171
|
0.00001
|
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr)
|
rs1221821073
|
0.00001
|
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)
|
rs775905979
|
0.00001
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838
|
0.00001
|
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)
|
rs782465430
|
0.00001
|
NM_002439.5(MSH3):c.3069C>G (p.His1023Gln)
|
rs771861205
|
0.00001
|
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg)
|
rs534983279
|
0.00001
|
NM_002661.5(PLCG2):c.1501G>T (p.Ala501Ser)
|
rs772234560
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe)
|
rs386134206
|
0.00001
|
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)
|
rs751542188
|
0.00001
|
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln)
|
rs1478000749
|
0.00001
|
NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter)
|
rs1571371125
|
0.00001
|
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser)
|
rs762291063
|
0.00001
|
NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile)
|
rs773364224
|
0.00001
|
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg)
|
rs750979600
|
0.00001
|
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp)
|
rs370505170
|
0.00001
|
NM_004589.4(SCO1):c.881T>A (p.Met294Lys)
|
rs775176412
|
0.00001
|
NM_004656.4(BAP1):c.250C>T (p.His84Tyr)
|
rs1338231889
|
0.00001
|
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr)
|
rs28382854
|
0.00001
|
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)
|
rs1581573705
|
0.00001
|
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu)
|
rs770133038
|
0.00001
|
NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys)
|
rs767431377
|
0.00001
|
NM_005529.7(HSPG2):c.3028C>T (p.Arg1010Cys)
|
rs377016014
|
0.00001
|
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg)
|
rs1553186124
|
0.00001
|
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)
|
rs768526003
|
0.00001
|
NM_006070.6(TFG):c.1198C>T (p.Arg400Ter)
|
rs757661070
|
0.00001
|
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)
|
rs1395235750
|
0.00001
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys)
|
rs398122662
|
0.00001
|
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val)
|
rs935089030
|
0.00001
|
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)
|
rs1177361907
|
0.00001
|
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys)
|
rs1183371665
|
0.00001
|
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr)
|
rs772586786
|
0.00001
|
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val)
|
rs755657087
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)
|
rs1420833435
|
0.00001
|
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile)
|
rs515726189
|
0.00001
|
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn)
|
rs752873001
|
0.00001
|
NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys)
|
rs754487112
|
0.00001
|
NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser)
|
rs1374451398
|
0.00001
|
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys)
|
rs923187160
|
0.00001
|
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser)
|
rs759384083
|
0.00001
|
NM_021939.4(FKBP10):c.1160G>A (p.Arg387Gln)
|
rs782107514
|
0.00001
|
NM_021939.4(FKBP10):c.781G>A (p.Val261Met)
|
rs781821453
|
0.00001
|
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile)
|
rs569067100
|
0.00001
|
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)
|
rs772395506
|
0.00001
|
NM_030973.4(MED25):c.395G>A (p.Arg132His)
|
rs1441155267
|
0.00001
|
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)
|
rs781609846
|
0.00001
|
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)
|
rs375445058
|
0.00001
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter)
|
rs751748077
|
0.00001
|
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile)
|
rs139322919
|
0.00001
|
NM_182925.5(FLT4):c.3108A>T (p.Arg1036Ser)
|
rs776009030
|
0.00001
|
NM_182961.4(SYNE1):c.25246+3G>A
|
rs765849365
|
0.00001
|
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr)
|
rs760698113
|
0.00001
|
NC_012920.1(MT-CO2):m.7637G>A
|
rs1556423314
|
|
NC_012920.1(MT-TS2):m.12236G>A
|
rs28359170
|
|
NC_012920.1:m.9568T>C
|
rs1556423691
|
|
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)
|
rs370169077
|
|
NM_000018.4(ACADVL):c.753-11T>G
|
rs1555528341
|
|
NM_000018.4(ACADVL):c.756T>A (p.Asn252Lys)
|
rs143233413
|
|
NM_000020.3(ACVRL1):c.1046T>G (p.Leu349Arg)
|
rs765895870
|
|
NM_000020.3(ACVRL1):c.304G>C (p.Val102Leu)
|
rs1555152538
|
|
NM_000033.4(ABCD1):c.1082-33C>A
|
rs782720354
|
|
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del)
|
rs1603234766
|
|
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro)
|
rs1557054849
|
|
NM_000038.6(APC):c.1626+3A>G
|
rs1060503372
|
|
NM_000038.6(APC):c.1937T>G (p.Ile646Arg)
|
rs1554083243
|
|
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)
|
rs138367627
|
|
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)
|
rs1555106375
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs)
|
rs1555282185
|
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
rs80358472
|
|
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg)
|
rs56245590
|
|
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu)
|
rs1593897508
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
rs80358682
|
|
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu)
|
rs1555284847
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)
|
rs80359139
|
|
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)
|
rs886041145
|
|
NM_000059.4(BRCA2):c.9501+8T>C
|
rs1555289625
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
NM_000059.4(BRCA2):c.9824G>A (p.Ser3275Asn)
|
rs864622720
|
|
NM_000074.3(CD40LG):c.256G>A (p.Glu86Lys)
|
rs1556136676
|
|
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro)
|
rs11575982
|
|
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser)
|
rs72648327
|
|
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del)
|
rs1598302040
|
|
NM_000090.4(COL3A1):c.1459G>T (p.Ala487Ser)
|
rs1553508027
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
NM_000132.4(F8):c.1601T>C (p.Val534Ala)
|
rs1557281261
|
|
NM_000133.4(F9):c.1078T>A (p.Phe360Ile)
|
rs1603267386
|
|
NM_000133.4(F9):c.189A>C (p.Glu63Asp)
|
rs762447016
|
|
NM_000133.4(F9):c.613A>G (p.Thr205Ala)
|
rs1603265805
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile)
|
rs1555561439
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.2540-13C>G
|
rs1057522904
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4C>G (p.Arg2Gly)
|
rs1597652545
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
NM_000155.4(GALT):c.1070_1071del (p.Arg357fs)
|
rs1554709579
|
|
NM_000155.4(GALT):c.904+3G>T
|
rs1554709450
|
|
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala)
|
rs1555937012
|
|
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)
|
rs876660165
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000188.3(HK1):c.495+12C>T
|
rs557994641
|
|
NM_000208.4(INSR):c.2843-5T>G
|
rs1555736265
|
|
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp)
|
rs1555734564
|
|
NM_000208.4(INSR):c.421C>T (p.Arg141Trp)
|
rs1555689823
|
|
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr)
|
rs911809758
|
|
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu)
|
rs1261155576
|
|
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu)
|
rs1564825414
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.641A>C (p.Gln214Pro)
|
rs1596358209
|
|
NM_000243.3(MEFV):c.758C>A (p.Ala253Glu)
|
rs768336098
|
|
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp)
|
rs876658919
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.248T>C (p.Met83Thr)
|
rs1573436408
|
|
NM_000251.3(MSH2):c.646-11T>C
|
rs879254124
|
|
NM_000257.4(MYH7):c.2791G>T (p.Glu931Ter)
|
rs1131691514
|
|
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn)
|
rs1553926904
|
|
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile)
|
rs943891159
|
|
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser)
|
rs1341016726
|
|
NM_000298.6(PKLR):c.100+407G>T
|
rs746180822
|
|
NM_000298.6(PKLR):c.302T>C (p.Val101Ala)
|
rs1572057758
|
|
NM_000298.6(PKLR):c.379C>G (p.His127Asp)
|
rs1572057427
|
|
NM_000298.6(PKLR):c.380A>G (p.His127Arg)
|
rs1572057410
|
|
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile)
|
rs1589640376
|
|
NM_000314.8(PTEN):c.634+5G>C
|
rs138336847
|
|
NM_000342.4(SLC4A1):c.1490T>C (p.Leu497Pro)
|
rs1598299453
|
|
NM_000350.3(ABCA4):c.1555-10CT[2]
|
rs1280974868
|
|
NM_000371.4(TTR):c.47T>A (p.Phe16Tyr)
|
rs1598843637
|
|
NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala)
|
rs762291523
|
|
NM_000432.4(MYL2):c.59T>A (p.Met20Lys)
|
rs113167834
|
|
NM_000441.2(SLC26A4):c.1382T>A (p.Met461Lys)
|
rs1554359675
|
|
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp)
|
rs939755872
|
|
NM_000441.2(SLC26A4):c.590G>A (p.Gly197Glu)
|
rs1554354860
|
|
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)
|
rs1057521987
|
|
NM_000492.4(CFTR):c.1235C>T (p.Ala412Val)
|
rs1554382604
|
|
NM_000492.4(CFTR):c.1407G>A (p.Met469Ile)
|
rs143218779
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)
|
rs397508357
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)
|
rs201864483
|
|
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly)
|
rs397508501
|
|
NM_000492.4(CFTR):c.3628A>G (p.Met1210Val)
|
rs151264397
|
|
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys)
|
rs77902683
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met)
|
rs1554396417
|
|
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu)
|
rs369464175
|
|
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly)
|
rs1554379882
|
|
NM_000492.4(CFTR):c.778G>A (p.Val260Met)
|
rs1390016549
|
|
NM_000517.6(HBA2):c.124A>G (p.Thr42Ala)
|
rs281860654
|
|
NM_000517.6(HBA2):c.180C>T (p.Gly60=)
|
rs1596569781
|
|
NM_000517.6(HBA2):c.224A>G (p.Asp75Gly)
|
rs281864856
|
|
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)
|
rs281860604
|
|
NM_000518.4(HBB):c.157G>C (p.Asp53His)
|
rs33961886
|
|
NM_000518.4(HBB):c.238G>A (p.Asp80Asn)
|
rs33990858
|
|
NM_000518.4(HBB):c.238G>C (p.Asp80His)
|
rs33990858
|
|
NM_000518.4(HBB):c.371C>T (p.Thr124Ile)
|
rs33935383
|
|
NM_000518.4(HBB):c.374C>T (p.Pro125Leu)
|
rs33983276
|
|
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)
|
rs33927093
|
|
NM_000518.5(HBB):c.*78T>C
|
rs1554917435
|
|
NM_000518.5(HBB):c.180G>C (p.Lys60Asn)
|
rs34621955
|
|
NM_000518.5(HBB):c.307A>G (p.Asn103Asp)
|
rs33927739
|
|
NM_000518.5(HBB):c.315G>T (p.Arg105Ser)
|
rs33914944
|
|
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)
|
rs1554300806
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del)
|
rs764486868
|
|
NM_000546.6(TP53):c.773A>C (p.Glu258Ala)
|
rs1060501201
|
|
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp)
|
rs1057520642
|
|
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu)
|
rs1171556696
|
|
NM_000552.5(VWF):c.2098G>T (p.Asp700Tyr)
|
rs377672051
|
|
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr)
|
rs1591866134
|
|
NM_000558.5(HBA1):c.19_21del (p.Asp7del)
|
rs281865565
|
|
NM_000637.5(GSR):c.149C>A (p.Pro50Gln)
|
rs1586077925
|
|
NM_000922.4(PDE3B):c.476C>T (p.Ala159Val)
|
rs1590023524
|
|
NM_000942.5(PPIB):c.104A>G (p.Glu35Gly)
|
rs752960312
|
|
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)
|
rs757708760
|
|
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro)
|
rs1555445569
|
|
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe)
|
rs757068311
|
|
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly)
|
rs1555458865
|
|
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala)
|
rs1555457457
|
|
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala)
|
rs1555457440
|
|
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu)
|
rs1258742494
|
|
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys)
|
rs776113903
|
|
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile)
|
rs1555453383
|
|
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys)
|
rs1229120097
|
|
NM_001011.4(RPS7):c.539T>A (p.Leu180His)
|
rs1553343210
|
|
NM_001018005.2(TPM1):c.240+3A>C
|
rs1555403436
|
|
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile)
|
rs1555409095
|
|
NM_001024630.4(RUNX2):c.886C>T (p.Pro296Ser)
|
rs1554397657
|
|
NM_001033081.3(MYCL):c.-419C>G
|
rs1570189511
|
|
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)
|
rs758081460
|
|
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys)
|
rs794728732
|
|
NM_001035.3(RYR2):c.4063G>T (p.Val1355Leu)
|
rs1572999842
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042702.5(PJVK):c.868_870del (p.Lys290del)
|
rs1575125659
|
|
NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile)
|
rs1592043182
|
|
NM_001065.4(TNFRSF1A):c.212A>T (p.Asp71Val)
|
rs1592047919
|
|
NM_001065.4(TNFRSF1A):c.92T>G (p.Val31Gly)
|
rs763940329
|
|
NM_001103.4(ACTN2):c.697+1G>A
|
rs113669376
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
NM_001114753.3(ENG):c.158G>C (p.Cys53Ser)
|
rs187643086
|
|
NM_001114753.3(ENG):c.752T>C (p.Leu251Pro)
|
rs1554810243
|
|
NM_001127453.2(GSDME):c.1183+5G>A
|
rs777359423
|
|
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys)
|
rs1029809799
|
|
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met)
|
rs747301309
|
|
NM_001142864.4(PIEZO1):c.2488-34_2488-3del
|
rs747907132
|
|
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro)
|
rs565593847
|
|
NM_001145809.2(MYH14):c.2988C>G (p.Ser996Arg)
|
rs368160641
|
|
NM_001145809.2(MYH14):c.5975C>T (p.Thr1992Ile)
|
rs1555779737
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001243133.2(NLRP3):c.3091G>C (p.Glu1031Gln)
|
rs1572239975
|
|
NM_001267550.2(TTN):c.21958T>A (p.Leu7320Ile)
|
rs1578036529
|
|
NM_001267550.2(TTN):c.22163A>G (p.Asn7388Ser)
|
rs1350328102
|
|
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met)
|
rs1060500564
|
|
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg)
|
rs751040739
|
|
NM_001267550.2(TTN):c.2996G>C (p.Arg999Pro)
|
rs371757623
|
|
NM_001267550.2(TTN):c.39089C>A (p.Ala13030Glu)
|
rs747459623
|
|
NM_001267550.2(TTN):c.44083G>C (p.Glu14695Gln)
|
rs1576671338
|
|
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer)
|
rs1553718908
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.51481G>A (p.Ala17161Thr)
|
rs1576397419
|
|
NM_001267550.2(TTN):c.7739T>C (p.Ile2580Thr)
|
rs1554000030
|
|
NM_001267550.2(TTN):c.79970A>G (p.Asp26657Gly)
|
rs1397158186
|
|
NM_001267550.2(TTN):c.85789T>C (p.Trp28597Arg)
|
rs1575611720
|
|
NM_001267550.2(TTN):c.90614T>A (p.Ile30205Asn)
|
rs1283032526
|
|
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg)
|
rs755545981
|
|
NM_001321571.2(CAMK2D):c.914T>C (p.Leu305Ser)
|
rs1590480879
|
|
NM_001355436.2(SPTB):c.1122A>C (p.Arg374Ser)
|
rs1594787664
|
|
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu)
|
rs1452760098
|
|
NM_001355436.2(SPTB):c.3409C>A (p.Leu1137Met)
|
rs776879148
|
|
NM_001355436.2(SPTB):c.4453C>T (p.Arg1485Trp)
|
rs373557486
|
|
NM_001355436.2(SPTB):c.901_903del (p.Glu301del)
|
rs1594790255
|
|
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg)
|
rs1603411632
|
|
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val)
|
rs1603411458
|
|
NM_001365951.3(KIF1B):c.2115+6313G>T
|
rs374263753
|
|
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys)
|
rs141965955
|
|
NM_001370259.2(MEN1):c.913-65_913-14del
|
rs1555165154
|
|
NM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe)
|
rs1555216969
|
|
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp)
|
rs1015526827
|
|
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala)
|
rs370414127
|
|
NM_001377.3(DYNC2H1):c.12812T>G (p.Val4271Gly)
|
rs913559604
|
|
NM_001377.3(DYNC2H1):c.1720C>A (p.His574Asn)
|
rs1045577540
|
|
NM_001377.3(DYNC2H1):c.1951A>G (p.Lys651Glu)
|
rs1461801774
|
|
NM_001379610.1(SPINK1):c.121A>C (p.Lys41Gln)
|
rs1554089812
|
|
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp)
|
rs1379675813
|
|
NM_001379610.1(SPINK1):c.56G>T (p.Gly19Val)
|
rs1411503462
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001457.4(FLNB):c.107G>A (p.Arg36His)
|
rs142568031
|
|
NM_001457.4(FLNB):c.2642A>G (p.Asn881Ser)
|
rs1199239072
|
|
NM_001457.4(FLNB):c.4402C>T (p.Pro1468Ser)
|
rs988254831
|
|
NM_001457.4(FLNB):c.4411G>C (p.Val1471Leu)
|
rs12632456
|
|
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala)
|
rs1589394154
|
|
NM_001613.4(ACTA2):c.67T>A (p.Phe23Ile)
|
rs1589400425
|
|
NM_001770.6(CD19):c.1133A>C (p.Tyr378Ser)
|
rs1362199823
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001845.6(COL4A1):c.1277G>C (p.Gly426Ala)
|
rs1594572151
|
|
NM_001931.5(DLAT):c.976-2del
|
rs781853215
|
|
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu)
|
rs760263661
|
|
NM_001999.4(FBN2):c.4222+5G>C
|
rs1554122550
|
|
NM_002109.6(HARS1):c.811G>C (p.Val271Leu)
|
rs149018062
|
|
NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr)
|
rs1333262915
|
|
NM_002230.4(JUP):c.1993T>C (p.Ser665Pro)
|
rs1597780746
|
|
NM_002296.4(LBR):c.1423T>A (p.Leu475Ile)
|
rs1553395780
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys)
|
rs1038334022
|
|
NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala)
|
rs1555551985
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
NM_002626.6(PFKL):c.1957T>C (p.Cys653Arg)
|
rs1602058152
|
|
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu)
|
rs776401461
|
|
NM_002769.5(PRSS1):c.592-2A>C
|
rs1585991476
|
|
NM_002838.5(PTPRC):c.692A>G (p.Lys231Arg)
|
rs1553239146
|
|
NM_002890.3(RASA1):c.1834A>G (p.Thr612Ala)
|
rs1314624861
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003036.4(SKI):c.436_437insCTC (p.Glu145_Leu146insPro)
|
rs1553189924
|
|
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)
|
rs386134214
|
|
NM_003098.3(SNTA1):c.205G>A (p.Glu69Lys)
|
rs1555822126
|
|
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
|
rs567686069
|
|
NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg)
|
rs1571370675
|
|
NM_003126.4(SPTA1):c.813-6C>G
|
rs1571523078
|
|
NM_003185.4(TAF4):c.3101_3102del (p.Pro1034fs)
|
rs2123082853
|
|
NM_003244.4(TGIF1):c.700A>G (p.Asn234Asp)
|
rs1555651109
|
|
NM_003849.4(SUCLG1):c.233A>G (p.Tyr78Cys)
|
rs1553393784
|
|
NM_003849.4(SUCLG1):c.537A>G (p.Gly179=)
|
rs1553393580
|
|
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro)
|
rs749462900
|
|
NM_004004.6(GJB2):c.38T>G (p.Val13Gly)
|
rs1593351795
|
|
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu)
|
rs199974153
|
|
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)
|
rs200928985
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004415.4(DSP):c.428T>C (p.Leu143Pro)
|
rs746545985
|
|
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys)
|
rs1584662598
|
|
NM_004444.5(EPHB4):c.2484+3A>T
|
rs1584653617
|
|
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)
|
rs863223812
|
|
NM_004990.4(MARS1):c.1717G>A (p.Asp573Asn)
|
rs1594833103
|
|
NM_004999.4(MYO6):c.1837A>G (p.Arg613Gly)
|
rs781019390
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005422.4(TECTA):c.1759A>G (p.Thr587Ala)
|
rs1555123703
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
NM_005529.7(HSPG2):c.6665G>A (p.Gly2222Asp)
|
rs200488208
|
|
NM_005529.7(HSPG2):c.6682G>C (p.Glu2228Gln)
|
rs1572229579
|
|
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del)
|
rs761662063
|
|
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
|
|
|
NM_005529.7(HSPG2):c.9040G>A (p.Gly3014Arg)
|
rs1553160553
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005629.4(SLC6A8):c.832C>T (p.Arg278Cys)
|
rs1557044958
|
|
NM_005751.5(AKAP9):c.1288T>A (p.Leu430Ile)
|
rs756987149
|
|
NM_005751.5(AKAP9):c.1289T>A (p.Leu430Ter)
|
rs778556625
|
|
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp)
|
rs1161759917
|
|
NM_006182.4(DDR2):c.1355G>C (p.Ser452Thr)
|
rs1571316841
|
|
NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln)
|
rs1443733304
|
|
NM_006446.5(SLCO1B1):c.1866-2A>G
|
rs1591754361
|
|
NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp)
|
rs80357381
|
|
NM_007294.4(BRCA1):c.2563C>A (p.Gln855Lys)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.3358G>C (p.Val1120Leu)
|
rs748894760
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln)
|
rs1597796507
|
|
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)
|
rs782566012
|
|
NM_014920.5(CILK1):c.964C>G (p.Pro322Ala)
|
rs1183385446
|
|
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe)
|
rs1589747116
|
|
NM_015046.7(SETX):c.7943C>T (p.Ser2648Phe)
|
rs1014113627
|
|
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met)
|
rs267599768
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
NM_015404.4(WHRN):c.321C>G (p.Asp107Glu)
|
rs766238813
|
|
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln)
|
rs1555546843
|
|
NM_016239.4(MYO15A):c.8882C>T (p.Thr2961Met)
|
rs1347316160
|
|
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro)
|
rs368106470
|
|
NM_017433.5(MYO3A):c.731+4A>T
|
rs1184463802
|
|
NM_017820.5(EXD3):c.944C>T (p.Thr315Met)
|
rs370293169
|
|
NM_018979.4(WNK1):c.6574G>A (p.Asp2192Asn)
|
rs747750974
|
|
NM_019075.4(UGT1A10):c.855+44828T>C
|
rs1575428418
|
|
NM_019844.4(SLCO1B3):c.728-4C>G
|
rs759435706
|
|
NM_020297.4(ABCC9):c.4512+745dup
|
rs1555176123
|
|
NM_020297.4(ABCC9):c.614C>T (p.Pro205Leu)
|
rs1286474202
|
|
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys)
|
rs766353935
|
|
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala)
|
rs138089753
|
|
NM_022041.4(GAN):c.322G>A (p.Ala108Thr)
|
rs771660619
|
|
NM_022336.4(EDAR):c.481G>A (p.Gly161Ser)
|
rs1553445966
|
|
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)
|
rs369417066
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_032119.4(ADGRV1):c.1364T>G (p.Val455Gly)
|
rs1580510493
|
|
NM_032119.4(ADGRV1):c.17683G>A (p.Val5895Ile)
|
rs1025278736
|
|
NM_032578.4(MYPN):c.2565-17G>A
|
rs1334366122
|
|
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=)
|
rs140748627
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
NM_033100.4(CDHR1):c.1915_1923del (p.Asp639_Leu641del)
|
rs771786130
|
|
NM_033100.4(CDHR1):c.2473C>G (p.Pro825Ala)
|
rs201515900
|
|
NM_080680.3(COL11A2):c.2870C>T (p.Pro957Leu)
|
rs1554217670
|
|
NM_080680.3(COL11A2):c.2928G>C (p.Gly976=)
|
rs147004824
|
|
NM_133379.5(TTN):c.11216A>G (p.Lys3739Arg)
|
rs775847921
|
|
NM_144997.7(FLCN):c.665T>G (p.Met222Arg)
|
rs1555609889
|
|
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu)
|
rs1554961433
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
NM_177438.3(DICER1):c.2776G>C (p.Asp926His)
|
rs1060503645
|
|
NM_182961.4(SYNE1):c.1951C>T (p.Pro651Ser)
|
rs1455678689
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
NM_198253.3(TERT):c.343T>A (p.Phe115Ile)
|
rs1554043085
|
|
NM_198253.3(TERT):c.359G>C (p.Arg120Pro)
|
rs1554043083
|
|
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp)
|
rs1571678968
|
|
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu)
|
rs727505155
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|