NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000132.4(F8):c.1569G>T (p.Leu523=)
|
rs782733685
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
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GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
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GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
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GRCh37/hg19 Xq13.3(chrX:74641546-74744601)
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GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
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GRCh37/hg19 Xq24(chrX:118714474-118718137)
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GRCh37/hg19 Xq25(chrX:122970459-123034511)
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|
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GRCh37/hg19 Xq28(chrX:147642893-147870805)
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|
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GRCh37/hg19 Xq28(chrX:152980470-153032459)
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|
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GRCh37/hg19 Xq28(chrX:153174571-153609996)
|
|
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NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
|
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
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NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
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NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
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NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
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NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
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NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
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NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
|
rs2092543877
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
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NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
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NM_000330.4(RS1):c.421C>T (p.Arg141Cys)
|
rs61752158
|
|
NM_000330.4(RS1):c.461A>G (p.Gln154Arg)
|
rs2147191205
|
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NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
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NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=)
|
rs1569535642
|
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NM_000489.6(ATRX):c.477del (p.Lys159fs)
|
rs1603240572
|
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NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)
|
rs2080114203
|
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NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)
|
rs1057518730
|
|
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)
|
rs1569335265
|
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NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)
|
rs1057518728
|
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NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)
|
rs2080115999
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)
|
rs606231196
|
|
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
|
|
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NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
|
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter)
|
rs2062675453
|
|
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
|
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
|
rs1569314475
|
|
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
|
|
|
NM_001256789.3(CACNA1F):c.4260+2del
|
rs2065655753
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs)
|
rs1931281945
|
|
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
|
rs1602253296
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
|
rs1057519430
|
|
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
|
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter)
|
rs1220996970
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003491.4(NAA10):c.472-2A>C
|
rs2065158556
|
|
NM_003491.4(NAA10):c.494_495del (p.Lys165fs)
|
rs1569546255
|
|
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
|
rs1934751829
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
|
rs1380635081
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
|
rs1930463806
|
|
NM_015107.3(PHF8):c.377del (p.Leu126fs)
|
rs1057518729
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
|
rs104886255
|
|
NM_033380.3(COL4A5):c.4016-1G>A
|
rs797045035
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter)
|
rs1057518650
|
|
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
|
|
|
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
|
|
|