NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)
|
rs767354861
|
0.00005
|
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter)
|
rs2147439880
|
|
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)
|
rs1602210960
|
|
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)
|
rs1602577238
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)
|
rs2148770984
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.618dup (p.Gly207fs)
|
rs2148663602
|
|
NM_001110792.2(MECP2):c.642del (p.Thr215fs)
|
rs2148663473
|
|
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)
|
rs2148661952
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)
|
rs2147539591
|
|
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
|
rs1602636591
|
|
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
|
rs1602638456
|
|
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
|
rs1602635781
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
|
rs34651888
|
|
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
|
rs1602595101
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)
|
rs1166554052
|
|
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)
|
rs2147356723
|
|
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)
|
rs1569234653
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)
|
rs1602127262
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)
|
rs1602119305
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
|
rs1602424869
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
|
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)
|
rs2065162324
|
|
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)
|
rs2146978491
|
|
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)
|
rs2146934865
|
|
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)
|
rs2146934832
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)
|
rs2033670961
|
|
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
|
rs1602143383
|
|
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
|
rs1602143432
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)
|
rs1602099961
|
|
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)
|
rs2147384890
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_024528.4(NKAP):c.961A>G (p.Met321Val)
|
rs2147845271
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|