NM_022893.4(BCL11A):c.386-24278G>A
|
rs11886868
|
0.65121
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
|
rs201424543
|
0.00049
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)
|
rs200180113
|
0.00021
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met)
|
rs142756842
|
0.00016
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys)
|
rs555068245
|
0.00006
|
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)
|
rs372631124
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_001723.7(DST):c.7432C>T (p.Arg2478Ter)
|
rs767292450
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)
|
rs148182439
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
|
rs138626345
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)
|
rs769236847
|
0.00004
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)
|
rs201269325
|
0.00003
|
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)
|
rs748362724
|
0.00003
|
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)
|
rs1221499782
|
0.00003
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)
|
rs776356158
|
0.00002
|
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu)
|
rs757316102
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His)
|
rs769953411
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00002
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)
|
rs763294577
|
0.00001
|
NM_000188.3(HK1):c.1393G>A (p.Glu465Lys)
|
rs780576140
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr)
|
rs755565099
|
0.00001
|
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)
|
rs121918061
|
0.00001
|
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)
|
rs1471156821
|
0.00001
|
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)
|
rs769892461
|
0.00001
|
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser)
|
rs397508606
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
NM_001039958.2(MESP2):c.583G>T (p.Gly195Ter)
|
rs1183901221
|
0.00001
|
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe)
|
rs370050799
|
0.00001
|
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
|
rs544861971
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)
|
rs1398859175
|
0.00001
|
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)
|
rs1404020990
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_005216.5(DDOST):c.645G>C (p.Gln215His)
|
rs867045420
|
0.00001
|
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu)
|
rs775936961
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln)
|
rs1477524771
|
0.00001
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)
|
rs1060499763
|
0.00001
|
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)
|
rs761403504
|
0.00001
|
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)
|
rs137852846
|
0.00001
|
NM_207118.3(GTF2H5):c.36-2A>G
|
rs765378190
|
0.00001
|
NC_012920.1:m.11467A>G
|
rs2853493
|
|
NC_012920.1:m.12372G>A
|
rs2853499
|
|
NM_000044.6(AR):c.2342T>A (p.Met781Lys)
|
rs2076137339
|
|
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)
|
rs748454316
|
|
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg)
|
rs1557236754
|
|
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu)
|
rs1557237050
|
|
NM_000063.6(C2):c.839_849del (p.Met280fs)
|
rs1770220135
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)
|
rs1562906013
|
|
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)
|
rs1567593047
|
|
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
|
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123
|
|
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg)
|
rs891954464
|
|
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)
|
rs118204110
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg)
|
rs483352814
|
|
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr)
|
rs179363873
|
|
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr)
|
rs1554517725
|
|
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
|
rs977932120
|
|
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)
|
rs727504020
|
|
NM_000255.4(MMUT):c.806C>T (p.Ala269Val)
|
rs767593892
|
|
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln)
|
rs1427104281
|
|
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs)
|
rs1566526391
|
|
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs)
|
rs1567891258
|
|
NM_000266.4(NDP):c.200G>T (p.Gly67Val)
|
rs1460859456
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000290.4(PGAM2):c.533del (p.Gly178fs)
|
rs747947171
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)
|
rs1553153243
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)
|
rs1344899647
|
|
NM_000376.3(VDR):c.821G>A (p.Arg274His)
|
rs121909796
|
|
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
|
|
|
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys)
|
rs769146546
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)
|
rs948490589
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)
|
rs775492883
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser)
|
rs1265717222
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
|
|
|
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs)
|
rs1783569729
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_001001548.3(CD36):c.784dup (p.Gln262fs)
|
rs766920034
|
|
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
|
rs80359859
|
|
NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer)
|
rs1569523468
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001077418.3(TMEM231):c.-11G>T
|
rs2080810222
|
|
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)
|
rs376624048
|
|
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro)
|
rs1848169364
|
|
NM_001083116.3(PRF1):c.1175del (p.Pro392fs)
|
rs1554867753
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del)
|
rs1555915744
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys)
|
rs1978296638
|
|
NM_001139.3(ALOX12B):c.527+2T>G
|
rs1555643304
|
|
NM_001163435.3(TBCK):c.360_363del (p.His120fs)
|
rs1560929669
|
|
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
|
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys)
|
rs1556405057
|
|
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)
|
|
|
NM_001243226.3(TCF4):c.74del (p.Asn25fs)
|
rs752700752
|
|
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg)
|
rs1554015228
|
|
NM_001349.4(DARS1):c.1481G>A (p.Arg494His)
|
rs967111310
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)
|
rs397518419
|
|
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del)
|
rs1559030991
|
|
NM_001370595.2(COA8):c.41dup (p.Leu15fs)
|
rs759966247
|
|
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)
|
rs2090097617
|
|
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)
|
rs1553249704
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs)
|
rs1176927796
|
|
NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter)
|
rs753935209
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384732.1(CPLANE1):c.5738-2A>G
|
rs565629362
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr)
|
rs1554350554
|
|
NM_001797.4(CDH11):c.1895-599A>T
|
rs2071263125
|
|
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)
|
rs587777534
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)
|
rs1700804080
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
NM_002016.2(FLG):c.8885del (p.Gln2962fs)
|
rs1570897758
|
|
NM_002206.3(ITGA7):c.2182del (p.Ala728fs)
|
rs1565622052
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)
|
rs886040977
|
|
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)
|
rs1057519574
|
|
NM_002335.4(LRP5):c.4489-2A>G
|
rs1057519575
|
|
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr)
|
rs2098630548
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
NM_003060.4(SLC22A5):c.394-141T>C
|
rs1561566541
|
|
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
|
rs1588688823
|
|
NM_003193.5(TBCE):c.332T>G (p.Val111Gly)
|
rs1553336397
|
|
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)
|
rs1556010444
|
|
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)
|
rs1569264087
|
|
NM_003673.4(TCAP):c.1A>G (p.Met1Val)
|
rs1567864804
|
|
NM_003737.4(DCHS1):c.7348del (p.Val2450fs)
|
rs1855757730
|
|
NM_003805.5(CRADD):c.298+59160del
|
rs1956612435
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)
|
rs1562957000
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs)
|
rs1596207451
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
NM_005051.3(QARS1):c.2085-3C>A
|
rs1024765171
|
|
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)
|
rs587783638
|
|
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
|
rs1592412131
|
|
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser)
|
rs1553187509
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
|
NM_006031.6(PCNT):c.607del (p.His203fs)
|
rs767416279
|
|
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs)
|
rs1560137609
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu)
|
rs1554770589
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter)
|
rs1555462184
|
|
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)
|
rs1554596418
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu)
|
rs1553501873
|
|
NM_014365.3(HSPB8):c.419C>T (p.Thr140Ile)
|
rs1954680920
|
|
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)
|
rs1590962541
|
|
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly)
|
rs1266361856
|
|
NM_014956.5(CEP164):c.2562del (p.Met854fs)
|
rs1565582604
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015915.5(ATL1):c.1111dup (p.Met371fs)
|
rs1566733927
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016628.5(WAC):c.1746+1G>A
|
rs1554791975
|
|
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala)
|
rs1950986906
|
|
NM_017565.4(FAM20A):c.885del (p.Thr296fs)
|
rs1568724130
|
|
NM_017654.4(SAMD9):c.2159del (p.Asn720fs)
|
rs753146043
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer)
|
rs1334301723
|
|
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del)
|
rs750367160
|
|
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
|
rs1554969894
|
|
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
|
rs886041766
|
|
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)
|
rs2037660713
|
|
NM_021252.5(RAB18):c.549del (p.Gly184fs)
|
rs1834935337
|
|
NM_021628.3(ALOXE3):c.1252G>T (p.Ala418Ser)
|
rs1979916239
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC
|
rs2080417973
|
|
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)
|
rs1554857840
|
|
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu)
|
rs1474201425
|
|
NM_022168.4(IFIH1):c.716dup (p.Met240fs)
|
rs1558875029
|
|
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
|
rs121908453
|
|
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro)
|
rs1555277061
|
|
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala)
|
rs1553847587
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_031448.6(C19orf12):c.371dup (p.Met124fs)
|
rs1568326754
|
|
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)
|
rs1277509410
|
|
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs)
|
rs1569172839
|
|
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs)
|
rs773160902
|
|
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)
|
rs1828806280
|
|
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)
|
rs1562336726
|
|
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly)
|
rs1554015303
|
|
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val)
|
rs762620949
|
|
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs)
|
rs1563509743
|
|
NM_152743.4(BRAT1):c.398A>G (p.His133Arg)
|
|
|
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu)
|
rs1553261858
|
|
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)
|
rs1165819867
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_181581.3(DUS4L):c.-349_-348insGGCCC
|
rs1584977236
|
|
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)
|
rs869025604
|
|
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
|
rs1703021709
|
|
NM_182961.4(SYNE1):c.434T>A (p.Leu145His)
|
rs755531859
|
|
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro)
|
rs1355198242
|
|
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile)
|
rs1554131502
|
|