|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
|
NM_001170629.2(CHD8):c.4310G>A (p.Arg1437His)
|
rs1176349106
|
0.00003
|
|
NM_004595.5(SMS):c.319C>T (p.Arg107Trp)
|
rs746297985
|
0.00001
|
|
NM_000489.6(ATRX):c.371-10A>G
|
rs2148670017
|
|
|
NM_000937.5(POLR2A):c.1051C>T (p.Arg351Ter)
|
rs2150880440
|
|
|
NM_000944.5(PPP3CA):c.113A>T (p.Asp38Val)
|
|
|
|
NM_001003694.2(BRPF1):c.2983C>T (p.Arg995Cys)
|
|
|
|
NM_001015877.2(PHF6):c.449A>T (p.Glu150Val)
|
|
|
|
NM_001039591.3(USP9X):c.6016A>G (p.Ser2006Gly)
|
|
|
|
NM_001040142.2(SCN2A):c.3322_3323delinsAA (p.Ala1108Asn)
|
rs2105337506
|
|
|
NM_001069.3(TUBB2A):c.1201G>T (p.Glu401Ter)
|
rs2113784970
|
|
|
NM_001080517.3(SETD5):c.1316C>G (p.Thr439Ser)
|
|
|
|
NM_001082538.3(TCTN1):c.1105-3C>G
|
|
|
|
NM_001105562.3(UBE4B):c.3307C>T (p.Gln1103Ter)
|
|
|
|
NM_001110792.2(MECP2):c.1084_1314del (p.Ser362_Ser438del)
|
rs2148659063
|
|
|
NM_001110792.2(MECP2):c.60A>C (p.Arg20Ser)
|
|
|
|
NM_001127392.3(MYRF):c.306C>G (p.Asn102Lys)
|
rs2135748046
|
|
|
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys)
|
rs2132094752
|
|
|
NM_001134382.3(IQSEC1):c.1162_1163del (p.Lys388fs)
|
rs2125307036
|
|
|
NM_001162501.2(TNRC6B):c.1723G>A (p.Gly575Arg)
|
|
|
|
NM_001220.5(CAMK2B):c.418G>C (p.Glu140Gln)
|
|
|
|
NM_001242896.3(DEPDC5):c.2203G>A (p.Gly735Ser)
|
rs2091055264
|
|
|
NM_001244008.2(KIF1A):c.1645C>T (p.His549Tyr)
|
|
|
|
NM_001282531.3(ADNP):c.2182A>C (p.Lys728Gln)
|
|
|
|
NM_001282534.2(KCNK9):c.552G>A (p.Trp184Ter)
|
rs2130105042
|
|
|
NM_001318852.2(MAPK8IP3):c.235G>A (p.Glu79Lys)
|
rs2142248260
|
|
|
NM_001348716.2(KDM6B):c.4348C>T (p.Pro1450Ser)
|
rs2151379708
|
|
|
NM_001348716.2(KDM6B):c.4469-9G>A
|
|
|
|
NM_001348768.2(HECW2):c.4477C>T (p.Arg1493Ter)
|
rs2105805603
|
|
|
NM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile)
|
|
|
|
NM_001368894.2(PAX6):c.400G>A (p.Val134Met)
|
|
|
|
NM_001374828.1(ARID1B):c.6227G>A (p.Arg2076His)
|
rs1351633854
|
|
|
NM_001385012.1(NBEA):c.7543C>A (p.Leu2515Met)
|
rs2153065630
|
|
|
NM_001393769.1(MED12L):c.1826A>G (p.His609Arg)
|
|
|
|
NM_001393769.1(MED12L):c.4901A>G (p.Tyr1634Cys)
|
|
|
|
NM_001394372.1(BICRA):c.3556A>C (p.Thr1186Pro)
|
|
|
|
NM_001690.4(ATP6V1A):c.431G>A (p.Gly144Asp)
|
|
|
|
NM_001958.5(EEF1A2):c.335C>T (p.Ala112Val)
|
|
|
|
NM_002069.6(GNAI1):c.1A>G (p.Met1Val)
|
|
|
|
NM_002332.3(LRP1):c.9774C>G (p.His3258Gln)
|
rs1565750061
|
|
|
NM_003070.5(SMARCA2):c.3768G>T (p.Met1256Ile)
|
rs370403102
|
|
|
NM_003073.5(SMARCB1):c.110G>T (p.Arg37Leu)
|
|
|
|
NM_003793.4(CTSF):c.1048G>T (p.Gly350Trp)
|
rs2134950758
|
|
|
NM_004408.4(DNM1):c.1347C>A (p.Tyr449Ter)
|
rs2131226916
|
|
|
NM_004522.3(KIF5C):c.856C>T (p.Arg286Trp)
|
|
|
|
NM_004523.4(KIF11):c.487A>G (p.Ile163Val)
|
|
|
|
NM_004746.4(DLGAP1):c.733G>T (p.Glu245Ter)
|
|
|
|
NM_005085.4(NUP214):c.6029_6030del (p.Lys2010fs)
|
|
|
|
NM_005157.6(ABL1):c.2170dup (p.His724fs)
|
|
|
|
NM_005257.6(GATA6):c.158_159delinsT (p.Gly53fs)
|
rs2143274134
|
|
|
NM_005629.4(SLC6A8):c.130G>T (p.Gly44Cys)
|
rs2091437228
|
|
|
NM_006180.6(NTRK2):c.370C>T (p.Arg124Ter)
|
rs1229434307
|
|
|
NM_006421.5(ARFGEF1):c.398C>T (p.Thr133Ile)
|
|
|
|
NM_006445.4(PRPF8):c.1348C>G (p.Leu450Val)
|
|
|
|
NM_006618.5(KDM5B):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_006772.3(SYNGAP1):c.1516C>T (p.Leu506Phe)
|
|
|
|
NM_012428.4(NPTN):c.14C>A (p.Ser5Ter)
|
rs1449689929
|
|
|
NM_014030.4(GIT1):c.1568dup (p.Gly524fs)
|
rs2150826248
|
|
|
NM_014271.4(IL1RAPL1):c.1372+5G>A
|
rs2147258668
|
|
|
NM_014712.3(SETD1A):c.2843G>A (p.Arg948Gln)
|
rs149618545
|
|
|
NM_014712.3(SETD1A):c.4811A>C (p.Gln1604Pro)
|
|
|
|
NM_015015.3(KDM4B):c.496G>A (p.Gly166Ser)
|
|
|
|
NM_015355.4(SUZ12):c.814G>T (p.Glu272Ter)
|
rs2142178714
|
|
|
NM_015559.3(SETBP1):c.1567C>T (p.His523Tyr)
|
rs2071331956
|
|
|
NM_016604.4(KDM3B):c.5009G>C (p.Gly1670Ala)
|
rs1464939653
|
|
|
NM_017780.4(CHD7):c.1061C>T (p.Pro354Leu)
|
rs2150579970
|
|
|
NM_018086.4(FIGN):c.861del (p.Thr288fs)
|
rs2105298764
|
|
|
NM_018263.6(ASXL2):c.607A>C (p.Ser203Arg)
|
|
|
|
NM_020338.4(ZMIZ1):c.1876_1908del (p.Ala626_Pro636del)
|
|
|
|
NM_020765.3(UBR4):c.10498C>T (p.Gln3500Ter)
|
|
|
|
NM_024835.5(GGNBP2):c.769C>T (p.Arg257Ter)
|
rs2142766936
|
|
|
NM_032482.3(DOT1L):c.1792C>T (p.Gln598Ter)
|
|
|
|
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
|
|
|
|
NM_057175.5(NAA15):c.1051dup (p.Thr351fs)
|
rs2110941246
|
|
|
NM_130839.5(UBE3A):c.2396A>C (p.Lys799Thr)
|
rs201004098
|
|
|
NM_145716.4(SSBP3):c.729dup (p.Gly244fs)
|
|
|
|
NM_173495.3(PTCHD1):c.1292T>C (p.Ile431Thr)
|
rs2146652048
|
|