NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn)
|
rs201759207
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00014
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)
|
rs184522376
|
0.00004
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg)
|
rs771613910
|
0.00002
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_003721.4(RFXANK):c.438+5G>A
|
rs1196984337
|
0.00001
|
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)
|
rs185476065
|
0.00001
|
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)
|
rs587777332
|
0.00001
|
NM_005051.3(QARS1):c.1389-3C>A
|
rs368358627
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)
|
rs121918277
|
0.00001
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)
|
rs397508191
|
|
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)
|
rs79282516
|
|
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
|
|
|
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)
|
rs1800092
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)
|
rs137975784
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)
|
rs397508748
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn)
|
rs137854882
|
|
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)
|
rs1565478152
|
|
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)
|
rs1565455878
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)
|
rs2047109965
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)
|
rs1596711175
|
|
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)
|
rs1596780112
|
|
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)
|
rs1163583945
|
|
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)
|
rs1555953527
|
|
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)
|
rs886048351
|
|
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)
|
rs1276619385
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)
|
rs786205012
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)
|
rs1131692269
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)
|
rs74315418
|
|
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)
|
rs2093408453
|
|