NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)
|
rs192426710
|
0.00128
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val)
|
rs142025193
|
0.00011
|
NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)
|
rs201467037
|
0.00010
|
NM_021120.4(DLG3):c.341G>C (p.Arg114Pro)
|
rs759162614
|
0.00010
|
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr)
|
rs986816548
|
0.00007
|
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_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
NM_004586.3(RPS6KA3):c.1227+9A>T
|
rs776061198
|
0.00003
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg)
|
rs753209373
|
0.00001
|
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu)
|
rs267606815
|
0.00001
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001318510.2(ACSL4):c.1892G>A (p.Arg631Gln)
|
rs370335449
|
0.00001
|
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe)
|
rs371160275
|
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_015884.4(MBTPS2):c.1520C>T (p.Ala507Val)
|
rs1486619088
|
0.00001
|
NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)
|
rs757877136
|
0.00001
|
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr)
|
rs782492154
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.900+2T>G
|
rs2091712381
|
|
NM_000132.4(F8):c.461C>T (p.Thr154Ile)
|
rs2073597378
|
|
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)
|
rs1057518780
|
|
NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)
|
rs1569215413
|
|
NM_000252.3(MTM1):c.1644+1G>A
|
rs398123272
|
|
NM_000252.3(MTM1):c.592T>C (p.Tyr198His)
|
rs2039845128
|
|
NM_000330.4(RS1):c.320G>T (p.Gly107Val)
|
rs143682861
|
|
NM_000330.4(RS1):c.649del (p.Leu217fs)
|
rs1927598075
|
|
NM_000390.4(CHM):c.539del (p.Asn180fs)
|
rs1930424354
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
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_001004334.4(GPR179):c.2413G>C (p.Glu805Gln)
|
rs199619898
|
|
NM_001011658.4(TRAPPC2):c.176T>C (p.Met59Thr)
|
rs2046291142
|
|
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_001039591.3(USP9X):c.1282T>G (p.Leu428Val)
|
rs2062438835
|
|
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=)
|
rs1374013183
|
|
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
|
rs782178831
|
|
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys)
|
rs2067685860
|
|
NM_001110556.2(FLNA):c.622+5G>C
|
rs2067774568
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val)
|
rs1602283451
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)
|
rs782569979
|
|
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)
|
rs2074458024
|
|
NM_001145073.3(USP27X):c.719_721del (p.Phe240del)
|
rs782650755
|
|
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_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu)
|
rs2065752304
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001320752.2(STS):c.1082-18T>C
|
rs1927373599
|
|
NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del)
|
rs746649683
|
|
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_001363.5(DKC1):c.133G>A (p.Ala45Thr)
|
rs2071733846
|
|
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup)
|
rs2064376509
|
|
NM_001493.3(GDI1):c.1283C>T (p.Ala428Val)
|
rs1064796588
|
|
NM_002025.4(AFF2):c.2914-15C>A
|
rs1204837598
|
|
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del)
|
rs757595052
|
|
NM_004463.3(FGD1):c.1695+1G>A
|
rs1922506770
|
|
NM_004586.3(RPS6KA3):c.326-16dup
|
rs2068239940
|
|
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer)
|
rs2038515067
|
|
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)
|
rs2092312145
|
|
NM_005391.5(PDK3):c.106+14_106+15dup
|
rs1940055207
|
|
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_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)
|
rs777980245
|
|
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
|
|
NM_033380.3(COL4A5):c.1033-1G>A
|
rs2066339336
|
|
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)
|
rs104886153
|
|
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)
|
rs1369565068
|
|
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)
|
rs2066011284
|
|
NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)
|
rs1556445736
|
|
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)
|
rs104886060
|
|
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)
|
rs104886086
|
|
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)
|
rs398124508
|
|
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val)
|
rs1699480267
|
|
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe)
|
rs1699444080
|
|
NM_171998.4(RAB39B):c.349G>T (p.Val117Leu)
|
rs1557314233
|
|
NM_171998.4(RAB39B):c.64T>G (p.Ser22Ala)
|
rs2074862064
|
|
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu)
|
rs2040424398
|
|