NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter)
|
rs55658999
|
0.00040
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_052988.5(CDK10):c.870_871del (p.Trp291fs)
|
rs766960979
|
0.00011
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp)
|
rs199473303
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_018131.5(CEP55):c.993+3A>C
|
rs572584581
|
0.00004
|
NM_052988.5(CDK10):c.609-1G>A
|
rs767176610
|
0.00004
|
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)
|
rs749240175
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_032801.5(JAM3):c.1A>G (p.Met1Val)
|
rs774867496
|
0.00003
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)
|
rs121918375
|
0.00002
|
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)
|
rs374042455
|
0.00002
|
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu)
|
rs755694066
|
0.00002
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)
|
rs199472821
|
0.00001
|
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)
|
rs398123287
|
0.00001
|
NM_000312.4(PROC):c.595C>T (p.Arg199Ter)
|
rs1456533664
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001611.5(ACP5):c.799del (p.Ser267fs)
|
rs1294990891
|
0.00001
|
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn)
|
rs761131376
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys)
|
rs121908538
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)
|
rs1424516740
|
0.00001
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)
|
rs370434427
|
0.00001
|
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)
|
rs1023520147
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.727C>T (p.Arg243Ter)
|
rs1463609963
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter)
|
rs1439351996
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)
|
rs199503269
|
0.00001
|
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys)
|
rs770500550
|
0.00001
|
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln)
|
rs397514475
|
0.00001
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4
|
|
|
NC_000001.10:g.(?_153753742)_(153791156_?)del
|
|
|
NC_000005.9:g.(?_88625195)_(90796047_?)inv
|
|
|
NC_000009.11:g.(?_131382516)_(131393966_?)del
|
|
|
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
|
|
|
NC_000017.10:g.(?_55442363)_(56309063_?)del
|
|
|
NC_000017.10:g.(?_55806534)_(56540597_?)del
|
|
|
NC_000021.9:g.46228667_46229005del
|
|
|
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
|
|
|
NC_000023.10:g.(?_41387096)_(41396627_?)del
|
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)
|
rs1897874329
|
|
NM_000059.4(BRCA2):c.2175dup (p.Val726fs)
|
rs276174819
|
|
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)
|
rs730881521
|
|
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)
|
rs80359200
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3:c.[742A>T];[2680C>T]
|
|
|
NM_000088.4(COL1A1):c.2039del (p.Gly680fs)
|
|
|
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp)
|
rs67828806
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)
|
rs587779583
|
|
NM_000128.4(F11):c.1822T>C (p.Tyr608His)
|
rs281875255
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)
|
rs121918508
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000203.5(IDUA):c.1589_1596dup (p.Pro533fs)
|
rs2153022916
|
|
NM_000214.3(JAG1):c.1395+3A>G
|
rs886044220
|
|
NM_000231.3(SGCG):c.579-5729_702+1720del
|
|
|
NM_000252.3(MTM1):c.1400del (p.Leu467fs)
|
rs2148511870
|
|
NM_000273.3(GPR143):c.360+2T>C
|
rs2146700764
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)
|
rs863224150
|
|
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)
|
rs1555934859
|
|
NM_000292.3(PHKA2):c.3295_3296dup (p.Ile1100fs)
|
rs2147807115
|
|
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)
|
rs146396414
|
|
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)
|
rs2110129645
|
|
NM_000310.4(PPT1):c.69_125-76del
|
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro)
|
rs2139026104
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)
|
rs201660407
|
|
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
|
rs1585617015
|
|
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro)
|
rs1553415041
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)
|
rs1563422304
|
|
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)
|
rs1599337939
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000548.5(TSC2):c.1961del (p.Gly654fs)
|
|
|
NM_000548.5(TSC2):c.648+1G>C
|
|
|
NM_000891.3(KCNJ2):c.269T>G (p.Leu90Arg)
|
|
|
NM_000939.4(POMC):c.416dup (p.Tyr139Ter)
|
rs1573250294
|
|
NM_000939.4(POMC):c.84C>A (p.Cys28Ter)
|
rs1573254045
|
|
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)
|
rs1575155995
|
|
NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter)
|
rs1553695017
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)
|
rs1556016224
|
|
NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)
|
|
|
NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)
|
|
|
NM_001009944.3(PKD1):c.491del (p.Gln164fs)
|
rs2151825169
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]
|
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
NM_001015878.2(AURKC):c.145del (p.Leu49fs)
|
rs397515619
|
|
NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)
|
|
|
NM_001034853.2(RPGR):c.919del (p.Thr307fs)
|
rs1601951595
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu)
|
rs1057520413
|
|
NM_001040142.2(SCN2A):c.882del (p.Phe295fs)
|
rs1553568045
|
|
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs)
|
rs2108971782
|
|
NM_001042432.2(CLN3):c.460+376_677+388del
|
|
|
NM_001042492.3(NF1):c.6576_6577dup (p.Glu2193fs)
|
|
|
NM_001079668.3(NKX2-1):c.512_576del (p.Gly171fs)
|
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
NM_001080517.1:r.627_810del
|
|
|
NM_001080517.3(SETD5):c.2998dup (p.Tyr1000fs)
|
|
|
NM_001083619.3(GRIA2):c.2375G>A (p.Gly792Glu)
|
rs2127000875
|
|
NM_001083962.2(TCF4):c.1069+1052G>A
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.220G>T (p.Gly74Cys)
|
|
|
NM_001101.5(ACTB):c.355A>G (p.Met119Val)
|
|
|
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly)
|
rs587779776
|
|
NM_001110556.2(FLNA):c.2752dup (p.Asp918fs)
|
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)
|
rs2148658325
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs)
|
rs1556880284
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys)
|
rs2144955129
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)
|
rs2100414066
|
|
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)
|
rs886039429
|
|
NM_001142416.2(AIMP1):c.82C>T (p.Gln28Ter)
|
rs2125920882
|
|
NM_001145678.3(KIAA0825):c.3451_3456+13del
|
|
|
NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs)
|
rs2146123001
|
|
NM_001170629.2(CHD8):c.5061del (p.Phe1687fs)
|
rs2139452398
|
|
NM_001172509.2(SATB2):c.1153del (p.Val385fs)
|
rs2105822848
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter)
|
rs2105707111
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs)
|
rs2134409465
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)
|
rs1057518074
|
|
NM_001197104.2(KMT2A):c.502+1G>A
|
rs1591371152
|
|
NM_001198903.1:c.998_1293del
|
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)
|
rs1565977796
|
|
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs)
|
rs2054200651
|
|
NM_001277115.2(DNAH11):c.3040C>T (p.Gln1014Ter)
|
|
|
NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs)
|
rs1479385947
|
|
NM_001277115.2(DNAH11):c.3853-2202_4096-506del
|
|
|
NM_001277115.2(DNAH11):c.6642del (p.Phe2214fs)
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del)
|
rs1205890585
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)
|
rs132630322
|
|
NM_001291867.2(NHS):c.[107C>G;111del]
|
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del)
|
rs1565206032
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro)
|
rs1802055133
|
|
NM_001347721.2(DYRK1A):c.300+846A>G
|
rs2148574292
|
|
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)
|
rs1601267617
|
|
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)
|
rs1555984245
|
|
NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys)
|
rs1576280892
|
|
NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro)
|
rs1576220938
|
|
NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys)
|
rs1576220876
|
|
NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro)
|
rs1576220750
|
|
NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)
|
rs1576220405
|
|
NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg)
|
rs1560092224
|
|
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs)
|
rs1576288424
|
|
NM_001349338.3(FOXP1):c.1394G>C (p.Arg465Thr)
|
rs1553668196
|
|
NM_001353214.3(DYM):c.2043del (p.Lys681fs)
|
rs1471488189
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)
|
|
|
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)
|
rs2063939905
|
|
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)
|
rs2147340483
|
|
NM_001369.3:c.[13486C>T];[13194_13197del]
|
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001371279.1(REEP1):c.512del (p.Pro171fs)
|
rs387906263
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter)
|
rs1571235473
|
|
NM_001371928.1(AHDC1):c.944dup (p.Ala316fs)
|
rs1571242436
|
|
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs)
|
rs2146831793
|
|
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)
|
rs1583368813
|
|
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)
|
rs1794276185
|
|
NM_001375380.1(EBF3):c.239dup (p.Pro81fs)
|
rs2134659091
|
|
NM_001375380.1(EBF3):c.593G>A (p.Cys198Tyr)
|
rs1554904330
|
|
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr)
|
rs1562945106
|
|
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs)
|
rs431905500
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001378418.1(TCF20):c.1166_1167del (p.Leu389fs)
|
rs2147218338
|
|
NM_001378418.1(TCF20):c.4267dup (p.Glu1423fs)
|
rs2147200649
|
|
NM_001378418.1(TCF20):c.5187T>G (p.Tyr1729Ter)
|
rs1920930432
|
|
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter)
|
rs1318520999
|
|
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs)
|
rs1553404233
|
|
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs)
|
rs1553404395
|
|
NM_001378454.1(ALMS1):c.7674+1G>A
|
rs1417025395
|
|
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly)
|
rs1673189476
|
|
NM_001379403.1(WDR26):c.454del (p.Asp152fs)
|
rs1572227260
|
|
NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe)
|
rs1162953058
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)
|
rs132630313
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer)
|
rs2143186831
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_001655.5(ARCN1):c.654-15A>G
|
rs1591385240
|
|
NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)
|
rs1575653629
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg)
|
rs1592198747
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|
NM_001845.6(COL4A1):c.3245G>T (p.Gly1082Val)
|
rs2139160399
|
|
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys)
|
rs1876543576
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys)
|
rs1555702147
|
|
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)
|
rs397514698
|
|
NM_002072.5(GNAQ):c.627A>C (p.Gln209His)
|
rs2118444312
|
|
NM_002072.5(GNAQ):c.627A>T (p.Gln209His)
|
rs2118444312
|
|
NM_002340.6(LSS):c.1109+2T>C
|
rs2080164185
|
|
NM_002340.6(LSS):c.1955C>T (p.Thr652Ile)
|
|
|
NM_002430.3(MN1):c.3794del (p.Pro1265fs)
|
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
NM_002571.4(PAEP):c.311-444_*248del
|
|
|
NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)
|
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.423del (p.Ala142fs)
|
rs2100982320
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter)
|
rs1596047883
|
|
NM_002890.3(RASA1):c.1460del (p.Gly487fs)
|
rs2112459497
|
|
NM_002971.6(SATB1):c.1004_1005del (p.Arg335fs)
|
rs1575135380
|
|
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln)
|
rs2125208683
|
|
NM_003011.4(SET):c.130_133del (p.Arg44fs)
|
rs1554776342
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter)
|
rs1697443771
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
NM_003079.5(SMARCE1):c.310T>C (p.Trp104Arg)
|
rs2143997365
|
|
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)
|
rs1553327954
|
|
NM_003119.4:c.[1049_1077del];[1045G>A]
|
|
|
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)
|
rs374661051
|
|
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter)
|
rs2141167019
|
|
NM_003482.4(KMT2D):c.10295dup (p.Leu3432fs)
|
rs2120461457
|
|
NM_003482.4(KMT2D):c.11890C>T (p.Gln3964Ter)
|
|
|
NM_003482.4(KMT2D):c.13884del (p.Thr4629fs)
|
rs886040960
|
|
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)
|
rs398123729
|
|
NM_003482.4(KMT2D):c.1643del (p.Pro548fs)
|
|
|
NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs)
|
rs1555184624
|
|
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
|
rs878853263
|
|
NM_003611.3(OFD1):c.312+1del
|
rs312262822
|
|
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn)
|
rs1555901137
|
|
NM_003611.3(OFD1):c.431dup (p.Leu144fs)
|
rs312262834
|
|
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)
|
rs2031555258
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter)
|
rs1389373911
|
|
NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)
|
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)
|
rs397507476
|
|
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)
|
rs397507478
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004357.5(CD151):c.19A>T (p.Lys7Ter)
|
rs1846753757
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)
|
rs587783626
|
|
NM_004463.3(FGD1):c.2016-36A>T
|
|
|
NM_004484.4(GPC3):c.280del (p.Gln94fs)
|
|
|
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs)
|
rs762289015
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)
|
rs786205165
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)
|
rs587777893
|
|
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)
|
rs587777900
|
|
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)
|
rs1085307113
|
|
NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)
|
rs968817513
|
|
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala)
|
rs1570752696
|
|
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
|
rs1984243311
|
|
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu)
|
rs1569017015
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg)
|
rs2043767578
|
|
NM_005055.5(RAPSN):c.123del (p.Arg42fs)
|
|
|
NM_005121.3(MED13):c.4417_4418del (p.Leu1473fs)
|
|
|
NM_005249.5(FOXG1):c.256dup (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro)
|
rs869312700
|
|
NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)
|
rs2131350514
|
|
NM_005321.3(H1-4):c.430dup (p.Ala144fs)
|
rs1131690805
|
|
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)
|
rs727503094
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005465.7(AKT3):c.963T>G (p.Asn321Lys)
|
rs1673171921
|
|
NM_005618.4(DLL1):c.152del (p.Pro51fs)
|
rs1783805590
|
|
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)
|
rs2091474617
|
|
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)
|
rs1603217815
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)
|
rs397517174
|
|
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His)
|
rs2149941592
|
|
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs)
|
rs1580360308
|
|
NM_005859.5(PURA):c.149_156dup (p.Gly53fs)
|
rs1581036164
|
|
NM_005859.5(PURA):c.406C>T (p.Gln136Ter)
|
rs2126749031
|
|
NM_005859.5(PURA):c.98dup (p.Gly34fs)
|
|
|
NM_005902.4(SMAD3):c.1A>G (p.Met1Val)
|
rs1555405092
|
|
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)
|
rs1057517991
|
|
NM_005996.4(TBX3):c.1287_1294dup (p.Glu432fs)
|
|
|
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)
|
rs71539673
|
|
NM_006015.6(ARID1A):c.5229_5230dup (p.Leu1744fs)
|
|
|
NM_006015.6(ARID1A):c.5566C>T (p.Gln1856Ter)
|
|
|
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)
|
rs1057517908
|
|
NM_006133.3(DAGLA):c.2484del (p.Glu829fs)
|
|
|
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)
|
rs1553248641
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)
|
rs1064793732
|
|
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
|
rs1724507777
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.271G>A (p.Asp91Asn)
|
rs1724341846
|
|
NM_006218.4(PIK3CA):c.2727C>A (p.Phe909Leu)
|
rs1432181034
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)
|
rs1057519930
|
|
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
|
rs1724343994
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006265.3(RAD21):c.208A>T (p.Lys70Ter)
|
rs1554612093
|
|
NM_006421.5(ARFGEF1):c.1006del (p.Met336fs)
|
rs1805830692
|
|
NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter)
|
rs1804841321
|
|
NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs)
|
rs1840585492
|
|
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)
|
rs1840520188
|
|
NM_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter)
|
rs1563869264
|
|
NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs)
|
rs1839888192
|
|
NM_006421.5(ARFGEF1):c.2925_2926del (p.Cys976fs)
|
|
|
NM_006421.5(ARFGEF1):c.3592-2A>G
|
rs1839416809
|
|
NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter)
|
rs1308211020
|
|
NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter)
|
rs146133956
|
|
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)
|
rs1838287933
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg)
|
rs1553510492
|
|
NM_006593.4(TBR1):c.969+1G>C
|
rs2105279320
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
NM_006766.5(KAT6A):c.1506del (p.Asp503fs)
|
rs2150871384
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter)
|
rs1554121861
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs)
|
rs2151190588
|
|
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs)
|
rs2151202533
|
|
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)
|
rs1554120978
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)
|
|
|
NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)
|
|
|
NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)
|
|
|
NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)
|
|
|
NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)
|
|
|
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)
|
|
|
NM_006924.5(SRSF1):c.579dup (p.Val194fs)
|
|
|
NM_006924.5(SRSF1):c.601del (p.Ser201fs)
|
|
|
NM_006924.5(SRSF1):c.71C>T (p.Pro24Leu)
|
rs2143492189
|
|
NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)
|
|
|
NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)
|
|
|
NM_006940.6(SOX5):c.352C>T (p.Arg118Ter)
|
rs2136047948
|
|
NM_006940.6(SOX5):c.755dup (p.Gln253fs)
|
rs2140907114
|
|
NM_006950.3(SYN1):c.1001del (p.Asn334fs)
|
rs1603051674
|
|
NM_006950.3(SYN1):c.218dup (p.Gly74fs)
|
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007214.5(SEC63):c.1331_1332del (p.Tyr444fs)
|
|
|
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)
|
rs1404676956
|
|
NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)
|
rs886037994
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs)
|
rs2134240789
|
|
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
|
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs)
|
rs2151743944
|
|
NM_013275.6(ANKRD11):c.618del (p.His206fs)
|
rs1597477691
|
|
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs)
|
rs1597435393
|
|
NM_013275.6(ANKRD11):c.744+1G>T
|
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)
|
|
|
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)
|
rs1555523386
|
|
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)
|
rs1589088690
|
|
NM_014159.7(SETD2):c.4180G>T (p.Glu1394Ter)
|
rs2107741763
|
|
NM_014271.4(IL1RAPL1):c.1054C>T (p.Arg352Ter)
|
rs1569203705
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)
|
rs1590414630
|
|
NM_014921.5(ADGRL1):c.2049dup (p.Glu684fs)
|
rs2144699293
|
|
NM_014921.5(ADGRL1):c.2998T>C (p.Trp1000Arg)
|
rs2144666888
|
|
NM_014921.5(ADGRL1):c.3391C>T (p.Arg1131Ter)
|
rs2144616263
|
|
NM_014921.5(ADGRL1):c.3440T>C (p.Met1147Thr)
|
rs2144613733
|
|
NM_014921.5(ADGRL1):c.3476C>T (p.Ser1159Phe)
|
rs2144613361
|
|
NM_014921.5(ADGRL1):c.3517C>T (p.Arg1173Ter)
|
rs907174700
|
|
NM_014921.5(ADGRL1):c.819G>A (p.Trp273Ter)
|
rs2144755046
|
|
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs)
|
rs1775468280
|
|
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)
|
rs1553213060
|
|
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter)
|
rs1557865787
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)
|
rs1641438649
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
NM_015338.6(ASXL1):c.2461dup (p.Asp821fs)
|
|
|
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)
|
|
|
NM_015443.4(KANSL1):c.878del (p.Asp293fs)
|
rs1555575405
|
|
NM_015559.3(SETBP1):c.632del (p.Gln211fs)
|
rs2145092336
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)
|
rs1585645641
|
|
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)
|
rs786205133
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)
|
rs2108473228
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
NM_016525.5(UBAP1):c.316A>T (p.Lys106Ter)
|
rs1587878961
|
|
NM_016648.3:c.392_997del
|
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)
|
rs1554011296
|
|
NM_016648.4(LARP7):c.64_65del (p.Glu22fs)
|
rs752178257
|
|
NM_016648.4(LARP7):c.789dup (p.Glu264Ter)
|
rs2149266119
|
|
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg)
|
rs1859949436
|
|
NM_017635.5(KMT5B):c.234_235del (p.Cys78_Glu79delinsTer)
|
rs2153068015
|
|
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
|
|
NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter)
|
rs1590954686
|
|
NM_017671.5:c.892_893insALU
|
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.7164+1G>A
|
rs2129644267
|
|
NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter)
|
rs2127690980
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018006.5:c.[2T>A];[835G>A]
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
|
|
|
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)
|
rs1574395479
|
|
NM_018263.6(ASXL2):c.1242_1243del (p.Ser415fs)
|
rs1574395471
|
|
NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)
|
rs886041838
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)
|
rs764761319
|
|
NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile)
|
|
|
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)
|
rs1347078601
|
|
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)
|
rs1555697020
|
|
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)
|
rs1554771469
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)
|
rs773682747
|
|
NM_021728.4(OTX2):c.749del (p.Gly250fs)
|
rs1594952111
|
|
NM_021728.4(OTX2):c.781_784del (p.Thr261fs)
|
rs1555350156
|
|
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)
|
rs2149847258
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034
|
|
NM_022893.4(BCL11A):c.385+2T>C
|
rs1553352926
|
|
NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro)
|
rs1553752849
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024757.5(EHMT1):c.2275+4del
|
|
|
NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)
|
rs1588770875
|
|
NM_024757.5(EHMT1):c.596dup (p.Val200fs)
|
|
|
NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs)
|
rs2145423153
|
|
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)
|
rs80358229
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_031844.3(HNRNPU):c.1674dup (p.Ala559fs)
|
rs2102985883
|
|
NM_031844.3(HNRNPU):c.2425-2A>G
|
rs1553281924
|
|
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys)
|
rs1580609185
|
|
NM_032635.4(TMEM147):c.100_118del (p.Lys34fs)
|
|
|
NM_032635.4(TMEM147):c.163_172del (p.Thr55fs)
|
|
|
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)
|
|
|
NM_032635.4(TMEM147):c.344+5G>A
|
|
|
NM_032635.4(TMEM147):c.345-1G>T
|
|
|
NM_032635.4(TMEM147):c.390G>A (p.Trp130Ter)
|
|
|
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)
|
|
|
NM_032635.4(TMEM147):c.419dup (p.Asn140fs)
|
|
|
NM_032635.4(TMEM147):c.486C>G (p.Tyr162Ter)
|
|
|
NM_032635.4(TMEM147):c.496C>T (p.Arg166Trp)
|
|
|
NM_032635.4(TMEM147):c.540_543dup (p.Val182fs)
|
|
|
NM_032635.4(TMEM147):c.63C>G (p.Tyr21Ter)
|
|
|
NM_033380.3(COL4A5):c.438+1G>A
|
rs1603279819
|
|
NM_033419.5(PGAP3):c.280del (p.Trp94fs)
|
rs1555610292
|
|
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter)
|
rs2057593272
|
|
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)
|
rs869312814
|
|
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)
|
rs1407446171
|
|
NM_052867.4(NALCN):c.4194_4197del (p.Cys1398fs)
|
rs2139465605
|
|
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter)
|
rs2143677745
|
|
NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)
|
|
|
NM_078629.4(MSL3):c.971_974del (p.Glu324fs)
|
rs1601769604
|
|
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)
|
rs1553784985
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
NM_133433.4(NIPBL):c.1320del (p.Asn440fs)
|
rs1580373035
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs)
|
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_138295.5(PKD1L1):c.8096_8105del (p.Lys2699fs)
|
|
|
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter)
|
rs1336651679
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)
|
rs1569394026
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_145207.3(AFG2A):c.2038G>T (p.Ala680Ser)
|
rs1578710903
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152424.4(AMER1):c.1489del (p.Arg497fs)
|
rs1602067592
|
|
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs)
|
rs2133609624
|
|
NM_152564.5(VPS13B):c.763-2118G>T
|
|
|
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
|
|
|
NM_152743.4(BRAT1):c.1654C>T (p.Gln552Ter)
|
rs2128386131
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_152743.4(BRAT1):c.803G>A (p.Arg268His)
|
rs1131691679
|
|
NM_153603.4(COG7):c.169+4A>C
|
rs1555497568
|
|
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)
|
rs727503442
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His)
|
rs2081102604
|
|
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)
|
rs1131691936
|
|
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)
|
rs727502819
|
|
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)
|
rs869312845
|
|
NM_177559.3(CSNK2A1):c.832C>T (p.Arg278Ter)
|
rs2018126184
|
|
NM_178014.4(TUBB):c.895A>G (p.Met299Val)
|
rs587777355
|
|
NM_178014.4(TUBB):c.961A>G (p.Met321Val)
|
rs2127749786
|
|
NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu)
|
|
|
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)
|
rs1797574932
|
|
NM_182931.3(KMT2E):c.2181_2182insTTGC (p.Pro728fs)
|
|
|
NM_182931.3(KMT2E):c.303del (p.Ser102fs)
|
rs2129567233
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_197968.4(ZMYM2):c.1120_1121del (p.Val374fs)
|
|
|
NM_207037.2(TCF12):c.1879dup (p.Met627fs)
|
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|
Single allele
|
|
|
t(9;15)(p13.3;q21.1)
|
|
|