NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)
|
rs189437004
|
0.00009
|
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)
|
rs149595793
|
0.00007
|
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His)
|
rs144902457
|
0.00005
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
NM_139058.3(ARX):c.166A>G (p.Ser56Gly)
|
rs144098296
|
0.00003
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln)
|
rs869312679
|
0.00001
|
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile)
|
rs782119109
|
0.00001
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000381.4(MID1):c.1495G>A (p.Val499Met)
|
rs868016081
|
|
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg)
|
rs2148625660
|
|
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr)
|
rs146863015
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs)
|
rs875989829
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly)
|
rs2063039248
|
|
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)
|
rs1556181426
|
|
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
|
|
|
NM_001110556.2(FLNA):c.623-8C>A
|
rs111542756
|
|
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser)
|
rs1602257111
|
|
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
|
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
|
|
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala)
|
rs2045884607
|
|
NM_001356.5(DDX3X):c.1171-2A>C
|
rs2147356545
|
|
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter)
|
rs869312692
|
|
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter)
|
rs752738546
|
|
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)
|
rs1602253464
|
|
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
|
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn)
|
rs1603373843
|
|
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)
|
rs1131692227
|
|
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)
|
rs2148650076
|
|
NM_004595.5(SMS):c.329G>A (p.Arg110Gln)
|
rs2147513193
|
|
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr)
|
rs2148336854
|
|
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)
|
rs1569481124
|
|
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)
|
rs869312686
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
NM_012216.4(MID2):c.448G>T (p.Ala150Ser)
|
rs375785745
|
|
NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu)
|
rs2147691521
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
|
|
|
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys)
|
rs1602008532
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly)
|
rs1401359685
|
|