ClinVar Miner

List of variants reported as pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 637
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HGVS dbSNP gnomAD frequency
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)

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