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)
|
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|
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
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NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)
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NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
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NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
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NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
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|
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
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NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
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|
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
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NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
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NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
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NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
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|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
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NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
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NM_007254.4(PNKP):c.829dup (p.Thr277fs)
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NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
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NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala)
|
rs730881021
|
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NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
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NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
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NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
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NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe)
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rs2134121762
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NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
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NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)
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rs864309599
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NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
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NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
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rs886041125
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NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
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rs797045027
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NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
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NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
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NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)
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rs886039477
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NM_013275.6(ANKRD11):c.6152dup (p.Glu2052fs)
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NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)
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rs878855327
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NM_014321.4(ORC6):c.360-1G>T
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NM_014727.3(KMT2B):c.3565_3566dup (p.Leu1190fs)
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NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)
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NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
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NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)
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NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
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NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr)
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NM_015158.5(KANK1):c.511A>G (p.Thr171Ala)
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NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
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NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs)
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NM_015335.5(MED13L):c.2333C>T (p.Ala778Val)
|
rs1555247422
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NM_015335.5(MED13L):c.4358A>C (p.His1453Pro)
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NM_015335.5(MED13L):c.987del (p.Ser330fs)
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NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
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NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
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NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
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NM_016628.5(WAC):c.451C>T (p.Arg151Ter)
|
rs886041614
|
|
NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)
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NM_017635.5(KMT5B):c.2095C>T (p.Arg699Ter)
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NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
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NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
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NM_018136.5(ASPM):c.1498del (p.Arg500fs)
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|
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NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
|
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|
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)
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NM_018136.5(ASPM):c.3741+1G>C
|
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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)
|
|
|