|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
|
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)
|
rs531851447
|
0.00002
|
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
|
GRCh37/hg19 Xp11.22(chrX:53239546-53349064)x1
|
|
|
|
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
|
|
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GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
|
|
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GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
|
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
|
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)
|
rs2091765003
|
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
|
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)
|
rs2091773697
|
|
|
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
|
|
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
|
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
|
rs2091707324
|
|
|
NM_000033.4(ABCD1):c.524_526del (p.Phe175del)
|
rs2091707872
|
|
|
NM_000033.4(ABCD1):c.855del (p.Val286fs)
|
|
|
|
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)
|
rs2148389994
|
|
|
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg)
|
rs104894777
|
|
|
NM_000330.4(RS1):c.53-1G>A
|
rs1928241490
|
|
|
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)
|
rs1929219058
|
|
|
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
|
|
|
|
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter)
|
rs2071372283
|
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
|
NM_000489.6(ATRX):c.7205del (p.Ile2402fs)
|
rs1569513017
|
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
|
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)
|
rs886041701
|
|
|
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter)
|
rs2147440717
|
|
|
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs)
|
rs2147439375
|
|
|
NM_001015877.2(PHF6):c.585+1G>A
|
rs2077460481
|
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs)
|
rs2074181394
|
|
|
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)
|
rs1556404575
|
|
|
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs)
|
rs1928424117
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
|
NM_001256789.3(CACNA1F):c.3236+1G>A
|
rs1064797371
|
|
|
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
|
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs)
|
rs2147358635
|
|
|
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)
|
rs2147360033
|
|
|
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)
|
rs2147348697
|
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
|
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)
|
rs397516665
|
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
|
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)
|
rs2068757385
|
|
|
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)
|
rs587777161
|
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
|
NM_004463.3(FGD1):c.545del (p.Pro182fs)
|
rs1922869724
|
|
|
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
|
|
|
|
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs)
|
rs2092480172
|
|
|
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter)
|
rs2147283343
|
|
|
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs)
|
rs2147143428
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|