NM_000444.6(PHEX):c.-90A>G
|
rs178710
|
0.51407
|
NM_000444.6(PHEX):c.-33C>T
|
rs5951494
|
0.13118
|
NM_000444.6(PHEX):c.-108A>G
|
rs149541983
|
0.01269
|
NM_000444.6(PHEX):c.1206A>G (p.Gln402=)
|
rs151234075
|
0.00986
|
NM_000444.6(PHEX):c.288A>G (p.Glu96=)
|
rs112836831
|
0.00980
|
NM_000444.6(PHEX):c.489A>G (p.Ser163=)
|
rs140231382
|
0.00748
|
NM_000444.6(PHEX):c.537T>A (p.Val179=)
|
rs137961493
|
0.00746
|
NM_000444.6(PHEX):c.1383G>A (p.Thr461=)
|
rs77710864
|
0.00397
|
NM_000444.6(PHEX):c.903C>T (p.Asn301=)
|
rs142755818
|
0.00101
|
NM_000444.6(PHEX):c.81C>T (p.Val27=)
|
rs139862893
|
0.00082
|
NM_000444.6(PHEX):c.-126C>G
|
rs185830047
|
0.00078
|
NM_000444.6(PHEX):c.849+3A>G
|
rs200585038
|
0.00070
|
NM_000444.6(PHEX):c.249C>T (p.Phe83=)
|
rs145224279
|
0.00048
|
NM_000444.6(PHEX):c.996C>T (p.Asp332=)
|
rs139749399
|
0.00034
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
NM_000444.6(PHEX):c.1437A>G (p.Pro479=)
|
rs141436752
|
0.00026
|
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu)
|
rs145778165
|
0.00021
|
NM_000444.6(PHEX):c.1483-7T>C
|
rs369175587
|
0.00020
|
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn)
|
rs370610267
|
0.00019
|
NM_000444.6(PHEX):c.1026C>T (p.Arg342=)
|
rs746847960
|
0.00014
|
NM_000444.6(PHEX):c.690C>T (p.Ala230=)
|
rs149487757
|
0.00014
|
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
|
NM_000444.6(PHEX):c.957G>A (p.Lys319=)
|
rs373261521
|
0.00012
|
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)
|
rs760556268
|
0.00010
|
NM_000444.6(PHEX):c.444T>C (p.Ile148=)
|
rs145881500
|
0.00009
|
NM_000444.6(PHEX):c.118+7G>T
|
rs534550003
|
0.00006
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000444.6(PHEX):c.1587-16G>T
|
rs374593246
|
0.00003
|
NM_000444.6(PHEX):c.1374T>C (p.Asp458=)
|
rs370746437
|
0.00002
|
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)
|
rs775973349
|
0.00001
|
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)
|
rs766990714
|
0.00001
|
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)
|
rs201394441
|
0.00001
|
NM_000444.6(PHEX):c.285C>G (p.Pro95=)
|
rs1057515842
|
0.00001
|
GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3
|
|
|
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
|
|
|
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
|
|
|
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
|
|
|
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
|
|
|
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
|
|
|
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
|
|
|
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
|
|
|
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
|
|
|
NM_000444.4(PHEX):c.[755T>C;759G>A]
|
|
|
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs)
|
|
|
NM_000444.6(PHEX):c.-10G>T
|
rs1057515841
|
|
NM_000444.6(PHEX):c.-126C>A
|
rs185830047
|
|
NM_000444.6(PHEX):c.101del (p.Gly34fs)
|
rs1602241023
|
|
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)
|
rs1556026027
|
|
NM_000444.6(PHEX):c.1025G>A (p.Arg342His)
|
rs376461141
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)
|
rs773436322
|
|
NM_000444.6(PHEX):c.1044del (p.Asp349fs)
|
rs1556026042
|
|
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)
|
rs2147047501
|
|
NM_000444.6(PHEX):c.1079+5G>A
|
rs1556026071
|
|
NM_000444.6(PHEX):c.1080-1G>A
|
rs886041695
|
|
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val)
|
rs936722686
|
|
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
|
rs1602303865
|
|
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)
|
rs1556029499
|
|
NM_000444.6(PHEX):c.1133T>G (p.Leu378Arg)
|
|
|
NM_000444.6(PHEX):c.1134del (p.Ser379fs)
|
rs1556029516
|
|
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp)
|
rs1556029519
|
|
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
|
rs1602304005
|
|
NM_000444.6(PHEX):c.1173+1G>A
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1174-1G>A
|
rs2147065556
|
|
NM_000444.6(PHEX):c.1174-3C>G
|
rs1446526598
|
|
NM_000444.6(PHEX):c.118+1G>A
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.119-1G>A
|
rs2146979490
|
|
NM_000444.6(PHEX):c.119-1G>C
|
rs2146979490
|
|
NM_000444.6(PHEX):c.119-3C>G
|
rs1556012055
|
|
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
|
rs1602307078
|
|
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
|
rs1602307094
|
|
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)
|
rs1556030465
|
|
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
|
rs1602307107
|
|
NM_000444.6(PHEX):c.1217G>T (p.Cys406Phe)
|
|
|
NM_000444.6(PHEX):c.1266del (p.Phe422fs)
|
rs2147065739
|
|
NM_000444.6(PHEX):c.1269del (p.Asp424fs)
|
rs1556030487
|
|
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)
|
rs1556030502
|
|
NM_000444.6(PHEX):c.1302+2T>A
|
rs2147065825
|
|
NM_000444.6(PHEX):c.1303-1G>C
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-2A>G
|
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1313del (p.Leu438fs)
|
rs1932102521
|
|
NM_000444.6(PHEX):c.1324del (p.Val442fs)
|
rs1602324484
|
|
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)
|
rs2147086366
|
|
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)
|
rs2147086395
|
|
NM_000444.6(PHEX):c.135_136del (p.Leu47fs)
|
rs1602244774
|
|
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)
|
rs886041359
|
|
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)
|
rs2147086514
|
|
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1404+1G>C
|
rs2147086611
|
|
NM_000444.6(PHEX):c.1404+2T>G
|
rs193922454
|
|
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)
|
rs754449807
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1425del (p.Val476fs)
|
rs1602354302
|
|
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)
|
rs202074612
|
|
NM_000444.6(PHEX):c.142dup (p.Gln48fs)
|
rs2146979520
|
|
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
|
|
|
NM_000444.6(PHEX):c.1479dup (p.Ala494fs)
|
rs2147118833
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1482+1del
|
|
|
NM_000444.6(PHEX):c.1482+5G>C
|
rs1269067103
|
|
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)
|
rs2147118855
|
|
NM_000444.6(PHEX):c.1483-2A>G
|
rs1556070724
|
|
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
|
rs1602363343
|
|
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)
|
rs2147128134
|
|
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)
|
rs1556070890
|
|
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)
|
rs915608304
|
|
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)
|
rs886041361
|
|
NM_000444.6(PHEX):c.1560del (p.Trp520fs)
|
rs1556071086
|
|
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)
|
rs1556071123
|
|
NM_000444.6(PHEX):c.1572dup (p.Val525fs)
|
rs1556071138
|
|
NM_000444.6(PHEX):c.1586+14A>T
|
rs771287470
|
|
NM_000444.6(PHEX):c.1586+1G>A
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+2T>G
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000444.6(PHEX):c.1586+5G>A
|
rs1602363550
|
|
NM_000444.6(PHEX):c.1586_1586+1del
|
rs886041362
|
|
NM_000444.6(PHEX):c.1587-1G>A
|
rs886041839
|
|
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)
|
rs193922455
|
|
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)
|
rs1556091855
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)
|
rs1602244810
|
|
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)
|
rs770630990
|
|
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
|
rs1602244836
|
|
NM_000444.6(PHEX):c.187+1G>C
|
rs1556012100
|
|
NM_000444.6(PHEX):c.187+1G>T
|
rs1556012100
|
|
NM_000444.6(PHEX):c.187+1del
|
rs1556012094
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)
|
rs2146987638
|
|
NM_000444.6(PHEX):c.208_212del (p.Val70fs)
|
rs1927568587
|
|
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)
|
rs1602240926
|
|
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
|
|
|
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)
|
rs1556014287
|
|
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr)
|
rs137853269
|
|
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)
|
rs137853269
|
|
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)
|
rs137853269
|
|
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)
|
rs2146987874
|
|
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)
|
rs193922458
|
|
NM_000444.6(PHEX):c.349+1G>A
|
rs193922459
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
NM_000444.6(PHEX):c.350-1G>A
|
rs2147019098
|
|
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
|
rs1602273769
|
|
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
|
rs2146974254
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)
|
rs1556020460
|
|
NM_000444.6(PHEX):c.420A>G (p.Ser140=)
|
rs1158378032
|
|
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)
|
rs2147019252
|
|
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
|
rs1602273900
|
|
NM_000444.6(PHEX):c.424del (p.Cys142fs)
|
rs1556020474
|
|
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)
|
rs2147019297
|
|
NM_000444.6(PHEX):c.436+4A>T
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+5G>T
|
rs1602273945
|
|
NM_000444.6(PHEX):c.436+6T>C
|
rs1556020485
|
|
NM_000444.6(PHEX):c.440C>T (p.Ala147Val)
|
rs749081778
|
|
NM_000444.6(PHEX):c.441G>A (p.Ala147=)
|
rs770726332
|
|
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)
|
rs1929202828
|
|
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)
|
rs1556020752
|
|
NM_000444.6(PHEX):c.468del (p.Leu157fs)
|
rs2147020412
|
|
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)
|
rs1556020770
|
|
NM_000444.6(PHEX):c.535del (p.Val179fs)
|
rs2147020604
|
|
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
|
rs1602274883
|
|
NM_000444.6(PHEX):c.546_549del (p.Arg183fs)
|
rs1556020798
|
|
NM_000444.6(PHEX):c.559del (p.Leu187fs)
|
rs1602274893
|
|
NM_000444.6(PHEX):c.582del (p.Arg195fs)
|
rs1602274929
|
|
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)
|
rs770573978
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
|
rs1602274950
|
|
NM_000444.6(PHEX):c.613del (p.Arg205fs)
|
rs1929214770
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.645_652del (p.Asn216fs)
|
rs1929218157
|
|
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)
|
rs1929219058
|
|
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
|
rs774907553
|
|
NM_000444.6(PHEX):c.663G>A (p.Lys221=)
|
rs1929220357
|
|
NM_000444.6(PHEX):c.664-1G>T
|
rs886041529
|
|
NM_000444.6(PHEX):c.673del (p.Ala225fs)
|
rs2147035468
|
|
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)
|
rs1556023495
|
|
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)
|
rs1064793956
|
|
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn)
|
rs1057515843
|
|
NM_000444.6(PHEX):c.704del (p.Tyr235fs)
|
rs1556023503
|
|
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)
|
rs2147035526
|
|
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)
|
rs1556023505
|
|
NM_000444.6(PHEX):c.732+3_732+6del
|
rs2147035589
|
|
NM_000444.6(PHEX):c.732+5G>A
|
rs1556023528
|
|
NM_000444.6(PHEX):c.732+5G>C
|
rs1556023528
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000444.6(PHEX):c.78dup (p.Val27fs)
|
rs1556010757
|
|
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
|
rs1602240890
|
|
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
|
rs2147040261
|
|
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter)
|
rs137853268
|
|
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)
|
rs1556024541
|
|
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
|
|
|
NM_000444.6(PHEX):c.849+1268G>T
|
rs919011936
|
|
NM_000444.6(PHEX):c.849_849+2del
|
rs1602288211
|
|
NM_000444.6(PHEX):c.850-2A>G
|
rs1064793226
|
|
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
|
rs1602290398
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)
|
rs193922460
|
|
NM_000444.6(PHEX):c.933+1G>T
|
rs1556025314
|
|
NM_000444.6(PHEX):c.933+2T>A
|
rs2147043777
|
|
NM_000444.6(PHEX):c.934-1G>T
|
rs1602292528
|
|
NM_000444.6(PHEX):c.934-2A>G
|
rs1930291143
|
|
NM_000444.6(PHEX):c.934-3_934-1delinsTCA
|
rs1556025936
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
|
NM_000444.6(PHEX):c.985del (p.His329fs)
|
rs1556025994
|
|
PHEX, A-G, NT-429
|
|
|
Single allele
|
|
|