NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala)
|
rs17500494
|
0.00340
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys)
|
rs61729373
|
0.00152
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)
|
rs147940248
|
0.00118
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His)
|
rs144164281
|
0.00081
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)
|
rs148081681
|
0.00076
|
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met)
|
rs200283734
|
0.00075
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)
|
rs147600006
|
0.00065
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser)
|
rs145882968
|
0.00055
|
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)
|
rs374073337
|
0.00053
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00053
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)
|
rs182506343
|
0.00043
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
|
rs147287319
|
0.00040
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His)
|
rs144465058
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)
|
rs146396982
|
0.00034
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys)
|
rs200899164
|
0.00030
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr)
|
rs147044768
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)
|
rs150119795
|
0.00024
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_006059.4(LAMC3):c.3805G>A (p.Gly1269Ser)
|
rs201011683
|
0.00021
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)
|
rs148693111
|
0.00021
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)
|
rs140467698
|
0.00019
|
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn)
|
rs150298985
|
0.00019
|
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)
|
rs200450773
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp)
|
rs143413559
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)
|
rs375307187
|
0.00011
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)
|
rs762765901
|
0.00010
|
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)
|
rs763310916
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_182961.4(SYNE1):c.23791-7C>T
|
rs375558499
|
0.00010
|
NM_016302.4(CRBN):c.937G>C (p.Asp313His)
|
rs142337178
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_133433.4(NIPBL):c.6954+3A>G
|
rs769439754
|
0.00007
|
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu)
|
rs540468070
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_006059.4(LAMC3):c.2744G>A (p.Arg915Gln)
|
rs749496192
|
0.00006
|
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro)
|
rs201361687
|
0.00006
|
NM_020964.3(EPG5):c.5945G>A (p.Ser1982Asn)
|
rs377447365
|
0.00005
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter)
|
rs753254213
|
0.00004
|
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)
|
rs797044739
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_006279.5(ST3GAL3):c.344G>A (p.Arg115His)
|
rs767108992
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr)
|
rs746768839
|
0.00003
|
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)
|
rs148726767
|
0.00003
|
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His)
|
rs372272053
|
0.00002
|
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)
|
rs782632137
|
0.00002
|
NM_002693.3(POLG):c.17G>C (p.Trp6Ser)
|
rs1057524249
|
0.00002
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
0.00002
|
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
|
rs199874115
|
0.00002
|
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn)
|
rs372119031
|
0.00002
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
NM_001282531.3(ADNP):c.391C>G (p.Pro131Ala)
|
rs1020146684
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)
|
rs782759179
|
0.00001
|
NM_001939.3(DRP2):c.463C>T (p.Arg155Trp)
|
rs779203586
|
0.00001
|
NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val)
|
rs771591197
|
0.00001
|
NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter)
|
rs759503883
|
0.00001
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000240.4(MAOA):c.1003A>G (p.Ile335Val)
|
rs2033892290
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000277.3(PAH):c.166del (p.Glu56fs)
|
rs1878251285
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
|
rs145238683
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_001015877.2(PHF6):c.1019A>G (p.Glu340Gly)
|
rs2124261565
|
|
NM_001039591.3(USP9X):c.2594A>C (p.Asp865Ala)
|
rs2147118179
|
|
NM_001039591.3(USP9X):c.430A>G (p.Ile144Val)
|
rs2147028382
|
|
NM_001040142.2(SCN2A):c.5341G>A (p.Val1781Ile)
|
rs2105403003
|
|
NM_001079802.2(FKTN):c.126del (p.Lys42fs)
|
rs2132595043
|
|
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs)
|
rs2148659573
|
|
NM_001127222.2(CACNA1A):c.1197_1198+6del
|
rs2058520032
|
|
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)
|
rs2059190094
|
|
NM_001128840.3(CACNA1D):c.4509del (p.Asp1504fs)
|
rs2095400961
|
|
NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter)
|
rs1851359356
|
|
NM_001134407.3(GRIN2A):c.2197G>T (p.Ala733Ser)
|
rs796052550
|
|
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)
|
rs534440095
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001162501.2(TNRC6B):c.5+1G>A
|
rs2146376646
|
|
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys)
|
rs2105769188
|
|
NM_001190737.2(NFIB):c.364del (p.Arg122fs)
|
rs2132702680
|
|
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn)
|
rs1057519618
|
|
NM_001273.5(CHD4):c.673_693del (p.Ser225_Ala231del)
|
rs2136224838
|
|
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val)
|
rs2066303451
|
|
NM_001370348.2(PHF3):c.3890G>A (p.Arg1297His)
|
rs1767915033
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)
|
rs797045268
|
|
NM_001375524.1(TRRAP):c.9964C>T (p.Arg3322Ter)
|
rs2116810728
|
|
NM_001376.5(DYNC1H1):c.10755-2A>G
|
rs2152593620
|
|
NM_001379451.1(BCORL1):c.3601G>C (p.Glu1201Gln)
|
rs372174837
|
|
NM_001394062.1(MACF1):c.16135A>C (p.Ile5379Leu)
|
rs2148637793
|
|
NM_001394998.1(TANC2):c.2890T>C (p.Cys964Arg)
|
rs2147151323
|
|
NM_001677.4(ATP1B1):c.814dup (p.Ile272fs)
|
rs2101796350
|
|
NM_002641.4(PIGA):c.178C>G (p.Leu60Val)
|
rs1922166519
|
|
NM_003072.5(SMARCA4):c.413G>T (p.Gly138Val)
|
rs11537672
|
|
NM_003089.6(SNRNP70):c.772C>T (p.Arg258Cys)
|
rs1474360802
|
|
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter)
|
rs1553602498
|
|
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu)
|
rs2052626228
|
|
NM_004380.3(CREBBP):c.4134-4T>A
|
rs2052155482
|
|
NM_004396.5(DDX5):c.839C>T (p.Ala280Val)
|
rs2144261850
|
|
NM_004432.5(ELAVL2):c.189dup (p.Glu64Ter)
|
rs2136018631
|
|
NM_004615.4(TSPAN7):c.190G>A (p.Gly64Arg)
|
rs1556001023
|
|
NM_004615.4(TSPAN7):c.516del (p.Ser173fs)
|
rs752121179
|
|
NM_004859.4(CLTC):c.2881C>G (p.Leu961Val)
|
rs2143586655
|
|
NM_005120.3(MED12):c.4685T>G (p.Leu1562Arg)
|
rs2092327068
|
|
NM_006593.4(TBR1):c.1145T>C (p.Ile382Thr)
|
rs1684206632
|
|
NM_006662.3(SRCAP):c.5285C>A (p.Pro1762Gln)
|
rs755651719
|
|
NM_013275.6(ANKRD11):c.4112_4129del (p.Ala1371_Lys1376del)
|
rs754339551
|
|
NM_014389.3(PELP1):c.1664del (p.Leu555fs)
|
rs1912321794
|
|
NM_014847.4(UBAP2L):c.2724C>A (p.Tyr908Ter)
|
rs763832290
|
|
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter)
|
rs1639200820
|
|
NM_015557.3(CHD5):c.815C>T (p.Ala272Val)
|
rs2100866749
|
|
NM_015559.3(SETBP1):c.4675G>A (p.Ala1559Thr)
|
rs2073926608
|
|
NM_015570.4(AUTS2):c.691G>T (p.Ala231Ser)
|
rs2129547444
|
|
NM_016269.5(LEF1):c.928A>G (p.Met310Val)
|
rs2126285505
|
|
NM_018136.5(ASPM):c.1402_1406del (p.Asn468fs)
|
rs1245021867
|
|
NM_018136.5(ASPM):c.3599-7A>G
|
rs886045777
|
|
NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys)
|
rs1931186403
|
|
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)
|
rs587783737
|
|
NM_030632.3(ASXL3):c.5257_5267del (p.Leu1753fs)
|
rs2067754658
|
|
NM_054027.6(ANKH):c.922C>G (p.Pro308Ala)
|
rs1057521543
|
|
NM_172107.4(KCNQ2):c.122dup (p.Ile42fs)
|
rs2082237543
|
|
NM_181486.4(TBX5):c.242G>T (p.Arg81Met)
|
|
|
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu)
|
rs1565941576
|
|
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp)
|
rs1565939347
|
|
NM_181486.4(TBX5):c.694T>G (p.Phe232Val)
|
rs1565935405
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|