ClinVar Miner

List of variants reported by Service de Génétique Moléculaire, Hôpital Robert Debré

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ClinVar version:
Total variants: 530
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_025009.5(CEP135):c.2971A>G (p.Met991Val) rs115646074 0.00232
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) rs142339349 0.00147
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg) rs554327738 0.00021
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) rs113362230 0.00019
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) rs141491316 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_133379.5(TTN):c.16282G>A (p.Val5428Met) rs199565262 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys) rs377446250 0.00007
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) rs140513521 0.00004
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly) rs150054973 0.00004
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001195553.2(DCX):c.-22-364C>T rs761786389 0.00003
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078 0.00003
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) rs368435578 0.00003
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438 0.00003
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp) rs748365843 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) rs373774032 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002880.4(RAF1):c.293T>C (p.Val98Ala) rs763559779 0.00002
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) rs781986555 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs1453839157 0.00001
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) rs759611506 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser) rs1476175517 0.00001
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_004333.6(BRAF):c.101C>T (p.Ala34Val) rs1424449802 0.00001
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) rs1273585752 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771 0.00001
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267 0.00001
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_133443.4(GPT2):c.1037+5G>A rs1277787958 0.00001
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) rs780902942 0.00001
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000123.3:c.89-?_528+?del
NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) rs373926115
NM_000168.6(GLI3):c.2962G>C (p.Gly988Arg)
NM_000168.6(GLI3):c.455C>T (p.Pro152Leu)
NM_000426.4(LAMA2):c.5377G>A (p.Ala1793Thr)
NM_000426.4(LAMA2):c.8989-15T>G rs372370665
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.4822+1G>A
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001070.5(TUBG1):c.925C>T (p.Arg309Ter)
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001080517.3(SETD5):c.2552del (p.Leu851fs)
NM_001080517.3(SETD5):c.977del (p.Leu326fs)
NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1684G>C (p.Gly562Arg)
NM_001110556.2(FLNA):c.3495del (p.Ser1166fs)
NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala)
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) rs121909149
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) rs757336022
NM_001145358.2(SIN3A):c.2680A>G (p.Ile894Val)
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
NM_001194998.2(CEP152):c.833-1G>C
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter) rs1555050211
NM_001197104.2(KMT2A):c.3515dup (p.Asn1172fs)
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)
NM_001321075.3(DLG4):c.210+2del
NM_001347721.2(DYRK1A):c.1072-2A>T rs2053260627
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001353108.3(CEP63):c.790-2A>G
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)
NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu)
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs) rs1792478147
NM_001374828.1(ARID1B):c.6895del (p.Gln2299fs) rs1794569741
NM_001376.5(DYNC1H1):c.11696C>T (p.Pro3899Leu)
NM_001376.5(DYNC1H1):c.5960A>G (p.Asn1987Ser)
NM_001376.5(DYNC1H1):c.9382G>T (p.Val3128Phe)
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)
NM_001395891.1(CLASP1):c.196-583A>C
NM_001395891.1(CLASP1):c.196-600C>A
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4337A>G (p.Tyr1446Cys)
NM_001655.5(ARCN1):c.1256C>T (p.Ala419Val)
NM_001655.5(ARCN1):c.752C>T (p.Ser251Phe)
NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys) rs1792120689
NM_001830.4(CLCN4):c.1171C>A (p.Arg391Ser)
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_001966.4(EHHADH):c.1189dup (p.Ser397fs)
NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.220A>G (p.Asn74Asp)
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.4(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003470.3(USP7):c.1097A>C (p.Asp366Ala)
NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser)
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003737.4(DCHS1):c.5735G>A (p.Arg1912His)
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
NM_004247.4(EFTUD2):c.426+1dup
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del) rs1586140436
NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro) rs1586140512
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) rs1586126581
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln) rs180177037
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) rs878854675
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1740T>C (p.Asn580=)
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.758A>G (p.His253Arg) rs142268920
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu) rs2053548814
NM_004522.3(KIF5C):c.2660A>G (p.Lys887Arg)
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter)
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
NM_004523.4(KIF11):c.2268-1G>A
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.308+1G>A
NM_004523.4(KIF11):c.529del (p.Asp177fs)
NM_004523.4(KIF11):c.587_590del (p.Ile196fs)
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
NM_004958.4(MTOR):c.112G>A (p.Ala38Thr) rs138117203
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser) rs1951406889
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile) rs1951405479
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) rs1589792614
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_005378.6(MYCN):c.2T>C (p.Met1Thr)
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006015.6(ARID1A):c.3198+2dup
NM_006031.6(PCNT):c.1344+2T>C
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006662.3(SRCAP):c.7466C>G (p.Ser2489Ter)
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006852.6(TLK2):c.997G>T (p.Glu333Ter)
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe) rs2134121762
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6152dup (p.Glu2052fs)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_014321.4(ORC6):c.360-1G>T
NM_014727.3(KMT2B):c.3565_3566dup (p.Leu1190fs)
NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr)
NM_015158.5(KANK1):c.511A>G (p.Thr171Ala)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
NM_015335.5(MED13L):c.987del (p.Ser330fs)
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)
NM_017635.5(KMT5B):c.2095C>T (p.Arg699Ter)
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
NM_018341.3(ERMARD):c.313G>C (p.Glu105Gln)
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
NM_018489.3(ASH1L):c.6838G>A (p.Gly2280Arg)
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022455.4:c.5623-?_c.8091+?del
NM_022552.5(DNMT3A):c.1668G>C (p.Arg556Ser) rs1674465974
NM_022893.4(BCL11A):c.540_546del (p.Ser181fs)
NM_024496.4(IRF2BPL):c.2204G>T (p.Ser735Ile)
NM_025009.5(CEP135):c.2389C>T (p.Arg797Cys)
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
NM_025009.5(CEP135):c.3215+2T>C
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030665.4(RAI1):c.4545del (p.Cys1516fs)
NM_031407.7(HUWE1):c.5227G>A (p.Gly1743Arg)
NM_033360.4(KRAS):c.458A>C (p.Glu153Ala) rs1592798693
NM_033360.4(KRAS):c.500G>C (p.Arg167Thr)
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_057175.5(NAA15):c.55-2A>C
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_133433.4(NIPBL):c.432A>C (p.Gln144His)
NM_133443.4(GPT2):c.1177dup (p.Val393fs)
NM_133443.4(GPT2):c.269del (p.Val90fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
NM_152564.5(VPS13B):c.4950-29G>A
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
NM_153252.5(BRWD3):c.5345C>A (p.Ser1782Ter)
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
NM_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys)
NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del)
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
NM_173495.3(PTCHD1):c.928G>C (p.Ala310Pro)
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
NM_198525.3(KIF7):c.3016del (p.Glu1006fs)
NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala)
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)
NM_203447.4(DOCK8):c.2400C>A (p.Phe800Leu)
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)

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