NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala)
|
rs1569488381
|
0.00001
|
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
|
|
|
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
|
|
|
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
NM_000074.3(CD40LG):c.189del (p.Phe63fs)
|
rs193922134
|
|
NM_000074.3(CD40LG):c.288+1G>A
|
rs1569376229
|
|
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)
|
rs2076113325
|
|
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)
|
rs1569377829
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000377.2(WAS):c.509_510del
|
rs2062418811
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)
|
rs132630268
|
|
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
|
rs193922414
|
|
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
NM_000377.3(WAS):c.763dup (p.Gln255fs)
|
rs193922416
|
|
NM_000377.3(WAS):c.852del (p.Glu285fs)
|
rs1557007035
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
NM_000444.6(PHEX):c.1404+2T>G
|
rs193922454
|
|
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)
|
rs193922455
|
|
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)
|
rs193922456
|
|
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)
|
rs193922457
|
|
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)
|
rs193922458
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
|
rs2147040261
|
|
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)
|
rs193922460
|
|
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
|
rs386134262
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
|
|
|
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)
|
rs891068548
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
|
rs2080109236
|
|
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)
|
rs2147439364
|
|
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
|
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)
|
rs2148228335
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004606.5(TAF1):c.3407-1G>A
|
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
|
|
|
NM_007363.5(NONO):c.322_348+280del
|
rs2148033540
|
|
NM_022101.4(STEEP1):c.163del (p.Arg55fs)
|
rs2147360775
|
|
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
|
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs)
|
rs104886368
|
|
NM_033380.3(COL4A5):c.3017-2A>G
|
|
|
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
|
|
|
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys)
|
rs1327176357
|
|
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
|
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4995-1G>T
|
rs2148003624
|
|
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
|
|
|
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)
|
rs2147322042
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|