|
NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)
|
rs573197356
|
0.00301
|
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
|
NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu)
|
rs760189276
|
0.00009
|
|
NM_001374353.1(GLI2):c.349G>A (p.Ala117Thr)
|
rs775984106
|
0.00006
|
|
NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)
|
rs749612238
|
0.00004
|
|
NM_020812.4(DOCK6):c.934C>T (p.His312Tyr)
|
rs370838036
|
0.00003
|
|
NM_001377229.1(DISP1):c.1657G>A (p.Glu553Lys)
|
rs760562145
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
|
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro)
|
rs1057518994
|
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
|
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)
|
rs876661219
|
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
|
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)
|
rs1057519011
|
|
|
NM_001032221.6(STXBP1):c.1072del (p.Tyr358fs)
|
rs1057518989
|
|
|
NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)
|
rs1057518985
|
|
|
NM_001039591.3(USP9X):c.5339_5340del (p.Thr1780fs)
|
rs1057519007
|
|
|
NM_001040142.2(SCN2A):c.4063_4075del (p.Gly1355fs)
|
rs1057519010
|
|
|
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)
|
rs121909120
|
|
|
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
|
rs1057518993
|
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
|
NM_001134673.4(NFIA):c.905del (p.Gly302fs)
|
rs1057518992
|
|
|
NM_001172509.2(SATB2):c.1198A>G (p.Lys400Glu)
|
rs1057519013
|
|
|
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
|
rs886041856
|
|
|
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter)
|
rs1057518991
|
|
|
NM_001289396.1:c.[3495G>C(;)3917G>A]
|
|
|
|
NM_001349338.3(FOXP1):c.1348+2T>C
|
rs1057518999
|
|
|
NM_001374353.1(GLI2):c.2013del (p.Ser673fs)
|
rs876661325
|
|
|
NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter)
|
rs876661326
|
|
|
NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr)
|
rs876661327
|
|
|
NM_001374353.1(GLI2):c.596dup (p.Ala200fs)
|
rs876661323
|
|
|
NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter)
|
rs876661324
|
|
|
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)
|
rs1057519009
|
|
|
NM_001374828.1(ARID1B):c.5394+1G>A
|
rs1057518984
|
|
|
NM_001374828.1(ARID1B):c.6726del (p.Asp2244fs)
|
rs1057519002
|
|
|
NM_001377229.1(DISP1):c.1087A>G (p.Asn363Asp)
|
rs876661336
|
|
|
NM_001377229.1(DISP1):c.2898G>A (p.Trp966Ter)
|
rs749035153
|
|
|
NM_001429.4(EP300):c.2161dup (p.Ala721fs)
|
rs1057519012
|
|
|
NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile)
|
rs1057519001
|
|
|
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn)
|
rs1057518990
|
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
|
NM_004278.4(PIGL):c.154G>A (p.Asp52Asn)
|
rs2092587080
|
|
|
NM_004523.4(KIF11):c.862_871del (p.Ile288fs)
|
rs1057518980
|
|
|
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu)
|
rs796052461
|
|
|
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs)
|
rs1057519000
|
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
|
NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs)
|
rs1057519003
|
|
|
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs)
|
rs1057518987
|
|
|
NM_015080.4(NRXN2):c.551T>G (p.Leu184Arg)
|
rs1057518997
|
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
|
NM_015570.4(AUTS2):c.1605C>G (p.His535Gln)
|
rs1057518986
|
|
|
NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr)
|
rs1057518996
|
|
|
NM_017635.5(KMT5B):c.930del (p.Phe311fs)
|
rs1057518998
|
|
|
NM_020320.5(RARS2):c.407T>C (p.Val136Ala)
|
rs1057519014
|
|
|
NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn)
|
rs1057519008
|
|
|
NM_023110.3(FGFR1):c.1454G>T (p.Gly485Val)
|
rs876661332
|
|
|
NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)
|
rs869025670
|
|
|
NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp)
|
rs876661333
|
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
|
NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys)
|
rs876661335
|
|
|
NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro)
|
rs121909645
|
|
|
NM_030632.3(ASXL3):c.1986C>A (p.Tyr662Ter)
|
rs1057519005
|
|
|
NM_033163.5(FGF8):c.317C>A (p.Ala106Glu)
|
rs876661328
|
|
|
NM_033163.5(FGF8):c.356C>T (p.Thr119Met)
|
rs876661329
|
|
|
NM_033163.5(FGF8):c.385C>T (p.Arg129Ter)
|
rs876661330
|
|
|
NM_033163.5(FGF8):c.617G>A (p.Arg206Gln)
|
rs876661331
|
|
|
NM_134261.3(RORA):c.1019del (p.Arg340fs)
|
rs1057518981
|
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
|
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)
|
rs1057519006
|
|