NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)
|
rs201467037
|
0.00010
|
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val)
|
rs764849779
|
0.00006
|
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn)
|
rs779974166
|
0.00005
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg)
|
rs753209373
|
0.00001
|
NM_004595.5(SMS):c.872C>A (p.Thr291Lys)
|
rs755701744
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.2982-20C>T
|
rs773211847
|
0.00001
|
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr)
|
rs782088842
|
0.00001
|
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)
|
rs1165799072
|
0.00001
|
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met)
|
rs2070142302
|
|
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu)
|
rs2069567164
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)
|
rs200715521
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)
|
rs2063444025
|
|
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)
|
rs766409654
|
|
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)
|
rs2063876197
|
|
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp)
|
rs2063889955
|
|
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer)
|
rs2038515067
|
|
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)
|
rs2092312145
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln)
|
rs2092188951
|
|
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)
|
rs2090566346
|
|
NM_015107.3(PHF8):c.-63C>A
|
rs781976643
|
|
NM_015107.3(PHF8):c.2455del (p.Leu819fs)
|
rs2065126287
|
|
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His)
|
rs1927947896
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)
|
rs1927638009
|
|
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)
|
rs1931184202
|
|