NM_016032.4(ZDHHC9):c.-204+6G>T
|
rs3747339
|
0.00480
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000132.4(F8):c.2840C>G (p.Pro947Arg)
|
rs782318401
|
0.00005
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)
|
rs782127226
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile)
|
rs1461166570
|
0.00002
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala)
|
rs746891808
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)
|
rs1358610598
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)
|
rs147945173
|
0.00002
|
NM_000132.4(F8):c.1835G>A (p.Arg612His)
|
rs782473762
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)
|
rs1354177998
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg)
|
rs1186325484
|
0.00001
|
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser)
|
rs1928354837
|
0.00001
|
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu)
|
rs1246068842
|
0.00001
|
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met)
|
rs969709894
|
0.00001
|
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn)
|
rs781968104
|
0.00001
|
NM_003179.3(SYP):c.367G>A (p.Ala123Thr)
|
rs782495354
|
0.00001
|
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)
|
rs761953453
|
0.00001
|
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
|
rs375143574
|
0.00001
|
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly)
|
rs797044641
|
0.00001
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
|
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
|
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
|
|
|
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys)
|
rs2149095258
|
|
NM_000054.7(AVPR2):c.513C>G (p.Ser171Arg)
|
rs782601647
|
|
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)
|
rs104894757
|
|
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)
|
rs2064967091
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000132.4(F8):c.2163G>T (p.Met721Ile)
|
rs1218576358
|
|
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
rs1602349369
|
|
NM_000252.2(MTM1):c.-76_-11del
|
|
|
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
|
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
NM_000273.3(GPR143):c.36del (p.Thr13fs)
|
|
|
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu)
|
rs1060499806
|
|
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
|
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
|
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln)
|
rs1168750683
|
|
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
|
|
|
NM_000390.4(CHM):c.941-1G>A
|
|
|
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
|
|
|
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
|
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
|
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
|
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
|
|
|
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
|
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter)
|
rs1555932766
|
|
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs)
|
rs2147266578
|
|
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)
|
rs2147325555
|
|
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)
|
rs866840262
|
|
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)
|
rs1924204795
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
|
|
|
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp)
|
rs2148103926
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
|
|
|
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
|
|
|
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val)
|
rs2147060656
|
|
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
|
|
|
NM_001111125.3(IQSEC2):c.3015+3A>G
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs)
|
rs2147916504
|
|
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs)
|
rs2147910175
|
|
NM_001278116.2(L1CAM):c.1703+5G>A
|
|
|
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr)
|
rs2148498765
|
|
NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)
|
|
|
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
|
|
|
NM_001356.5(DDX3X):c.1315+1G>A
|
rs2063911832
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
NM_001367721.1(CASK):c.2039+1G>A
|
rs2147138207
|
|
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro)
|
rs750615873
|
|
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
|
|
|
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
|
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp)
|
rs1249190198
|
|
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
|
|
|
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)
|
rs2147360370
|
|
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
|
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
|
|
|
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala)
|
rs2146951019
|
|
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
|
|
|
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
|
|
|
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr)
|
rs2147422996
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
|
|
|
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
|
|
|
NM_004606.5(TAF1):c.4108-5C>T
|
rs2148485195
|
|
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)
|
rs1602463196
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg)
|
rs2147817009
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)
|
|
|
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu)
|
rs2148586729
|
|
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
|
|
|
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
|
|
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
|
|
|
NM_006579.3(EBP):c.338+1G>C
|
rs1569479885
|
|
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
|
|
|
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
|
|
|
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
|
|
|
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
|
|
|
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
|
|
|
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln)
|
rs2149796421
|
|
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu)
|
rs2124105600
|
|
NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)
|
rs1313449720
|
|
NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)
|
|
|
NM_021120.4(DLG3):c.1302G>A (p.Ser434=)
|
rs1555961898
|
|
NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)
|
|
|
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
|
|
|
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
|
|
|
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
|
|
|
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)
|
rs778389447
|
|
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
|
|
|
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
|
|
|
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
|
|
|
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
|
|
|
NM_031407.7(HUWE1):c.1779+5G>A
|
rs2148854427
|
|
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
|
|
|
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
|
|
|
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
|
|
|
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
|
|
|
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
|
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)
|
rs2066425550
|
|
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)
|
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
|
|
|
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
|
rs2066736770
|
|
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)
|
rs281874692
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)
|
rs2066011417
|
|
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)
|
rs1569505758
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)
|
rs2068130178
|
|
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
|
rs2068436110
|
|
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)
|
rs104886298
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)
|
rs104886306
|
|
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)
|
rs2066183255
|
|
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser)
|
rs2148048891
|
|
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)
|
rs2147783395
|
|
NM_139058.3(ARX):c.502_503dup (p.Ser168fs)
|
rs2147324110
|
|
NM_153252.5(BRWD3):c.11C>T (p.Ala4Val)
|
|
|
NM_153252.5(BRWD3):c.1387-5T>C
|
|
|
NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)
|
|
|
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)
|
rs1114167283
|
|