NM_000444.6(PHEX):c.-90A>G
|
rs178710
|
0.51407
|
NM_000444.6(PHEX):c.1302+277G>A
|
rs6528091
|
0.40285
|
NM_000444.6(PHEX):c.1586+287G>T
|
rs7881294
|
0.24625
|
NM_000444.6(PHEX):c.1080-73C>T
|
rs4824224
|
0.22096
|
NM_000444.6(PHEX):c.1482+271G>A
|
rs73636814
|
0.20941
|
NM_000444.6(PHEX):c.188-291T>G
|
rs178719
|
0.19177
|
NM_000444.6(PHEX):c.118+317T>C
|
rs5951685
|
0.17749
|
NM_000444.6(PHEX):c.1174-286G>A
|
rs10218272
|
0.17340
|
NM_000444.6(PHEX):c.188-47C>T
|
rs178720
|
0.17091
|
NM_000444.6(PHEX):c.1174-218T>G
|
rs10217954
|
0.15562
|
NM_000444.6(PHEX):c.-33C>T
|
rs5951494
|
0.13118
|
NM_000444.6(PHEX):c.1645+174T>G
|
rs2071583
|
0.11891
|
NM_000444.6(PHEX):c.1079+213T>C
|
rs45541842
|
0.10369
|
NM_000444.6(PHEX):c.733-189G>A
|
rs6528089
|
0.09431
|
NM_000444.6(PHEX):c.933+41A>G
|
rs58524357
|
0.09168
|
NM_000444.6(PHEX):c.933+286G>A
|
rs73636804
|
0.08955
|
NM_000444.6(PHEX):c.664-124G>C
|
rs12013780
|
0.08886
|
NM_000444.6(PHEX):c.849+128G>A
|
rs6629449
|
0.08782
|
NM_000444.6(PHEX):c.934-217A>C
|
rs7052268
|
0.07744
|
NM_000444.6(PHEX):c.849+1049T>C
|
rs73635602
|
0.07640
|
NM_000444.6(PHEX):c.437-208A>G
|
rs57027136
|
0.07450
|
NM_000444.6(PHEX):c.1079+279C>T
|
rs7882590
|
0.06506
|
NM_000444.6(PHEX):c.1645+110G>T
|
rs16981826
|
0.05979
|
NM_000444.6(PHEX):c.1483-211G>T
|
rs41311821
|
0.04153
|
NM_000444.6(PHEX):c.1645+169C>T
|
rs113381174
|
0.02602
|
NM_000444.6(PHEX):c.187+223G>A
|
rs141733180
|
0.01979
|
NM_000444.6(PHEX):c.1174-307T>C
|
rs143973252
|
0.01964
|
NM_000444.6(PHEX):c.436+230G>C
|
rs112329519
|
0.01548
|
NM_000444.6(PHEX):c.850-169T>C
|
rs143750363
|
0.01482
|
NM_000444.6(PHEX):c.-108A>G
|
rs149541983
|
0.01269
|
NM_000444.6(PHEX):c.349+170A>G
|
rs139431328
|
0.01142
|
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.1645+302T>C
|
rs5951720
|
0.00929
|
NM_000444.6(PHEX):c.1080-173G>A
|
rs146703869
|
0.00910
|
NM_000444.6(PHEX):c.1587-266T>A
|
rs2071582
|
0.00842
|
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.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
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.1482+16A>C
|
rs376298942
|
0.00034
|
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.482G>A (p.Arg161Gln)
|
rs138497409
|
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.505G>A (p.Val169Met)
|
rs187824835
|
0.00009
|
NM_000444.6(PHEX):c.380G>A (p.Arg127Gln)
|
rs370698419
|
0.00008
|
NM_000444.6(PHEX):c.118+7G>T
|
rs534550003
|
0.00006
|
NM_000444.6(PHEX):c.1185G>C (p.Gly395=)
|
rs371115510
|
0.00006
|
NM_000444.6(PHEX):c.1405-4del
|
rs746671817
|
0.00006
|
NM_000444.6(PHEX):c.922A>G (p.Met308Val)
|
rs372663150
|
0.00006
|
NM_000444.6(PHEX):c.1141C>T (p.Arg381Cys)
|
rs932260939
|
0.00005
|
NM_000444.6(PHEX):c.1461T>C (p.His487=)
|
rs765101791
|
0.00005
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000444.6(PHEX):c.379C>T (p.Arg127Trp)
|
rs375376231
|
0.00004
|
NM_000444.6(PHEX):c.1024C>T (p.Arg342Cys)
|
rs761575825
|
0.00003
|
NM_000444.6(PHEX):c.1027G>A (p.Val343Ile)
|
rs768400503
|
0.00003
|
NM_000444.6(PHEX):c.1470A>T (p.Glu490Asp)
|
rs371934258
|
0.00003
|
NM_000444.6(PHEX):c.1587-16G>T
|
rs374593246
|
0.00003
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
0.00003
|
NM_000444.6(PHEX):c.64G>T (p.Ala22Ser)
|
rs773927462
|
0.00003
|
NM_000444.6(PHEX):c.72C>T (p.Val24=)
|
rs1456105345
|
0.00003
|
NM_000444.6(PHEX):c.1374T>C (p.Asp458=)
|
rs370746437
|
0.00002
|
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn)
|
rs373235530
|
0.00002
|
NM_000444.6(PHEX):c.750C>T (p.Tyr250=)
|
rs1322662992
|
0.00002
|
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)
|
rs775973349
|
0.00001
|
NM_000444.6(PHEX):c.1303-10T>A
|
rs775781868
|
0.00001
|
NM_000444.6(PHEX):c.1328G>A (p.Arg443His)
|
rs1285918997
|
0.00001
|
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)
|
rs766990714
|
0.00001
|
NM_000444.6(PHEX):c.1515C>T (p.Asn505=)
|
rs764771688
|
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
|
NM_000444.6(PHEX):c.293T>A (p.Met98Lys)
|
rs1207505931
|
0.00001
|
NM_000444.6(PHEX):c.450A>G (p.Lys150=)
|
rs768868675
|
0.00001
|
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys)
|
rs776124957
|
0.00001
|
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
|
|
|
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
|
|
|
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x2
|
|
|
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x3
|
|
|
GRCh37/hg19 Xp22.11(chrX:22151640-22186506)x1
|
|
|
GRCh37/hg19 Xp22.11(chrX:22161754-22215726)
|
|
|
GRCh37/hg19 Xp22.11(chrX:22166967-22219901)x2
|
|
|
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
|
|
|
GRCh38/hg38 Xp22.11(chrX:22072604-22125554)x3
|
|
|
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0
|
|
|
GRCh38/hg38 Xp22.11(chrX:22173842-22186370)x2
|
|
|
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.(?_22050695)_(22051261_?)dup
|
|
|
NC_000023.10:g.(?_22050695)_(22132724_?)del
|
|
|
NC_000023.10:g.(?_22050695)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
|
|
|
NC_000023.10:g.(?_22056567)_(22056675_?)del
|
|
|
NC_000023.10:g.(?_22056567)_(22266301_?)dup
|
|
|
NC_000023.10:g.(?_22065148)_(22117289_?)dup
|
|
|
NC_000023.10:g.(?_22065168)_(22132704_?)dup
|
|
|
NC_000023.10:g.(?_22094486)_(22115176_?)dup
|
|
|
NC_000023.10:g.(?_22094486)_(22117289_?)dup
|
|
|
NC_000023.10:g.(?_22094486)_(22132724_?)del
|
|
|
NC_000023.10:g.(?_22094486)_(22151761_?)del
|
|
|
NC_000023.10:g.(?_22094486)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22094506)_(22108615_?)del
|
|
|
NC_000023.10:g.(?_22094506)_(22196493_?)dup
|
|
|
NC_000023.10:g.(?_22108527)_(22108635_?)del
|
|
|
NC_000023.10:g.(?_22108527)_(22108635_?)dup
|
|
|
NC_000023.10:g.(?_22108527)_(22151761_?)dup
|
|
|
NC_000023.10:g.(?_22108527)_(22186526_?)dup
|
|
|
NC_000023.10:g.(?_22108537)_(22108625_?)del
|
|
|
NC_000023.10:g.(?_22112081)_(22117289_?)del
|
|
|
NC_000023.10:g.(?_22112101)_(22112217_?)del
|
|
|
NC_000023.10:g.(?_22113485)_(22117289_?)del
|
|
|
NC_000023.10:g.(?_22115053)_(22115176_?)del
|
|
|
NC_000023.10:g.(?_22129565)_(22132724_?)del
|
|
|
NC_000023.10:g.(?_22132556)_(22132724_?)del
|
|
|
NC_000023.10:g.(?_22132585)_(22140843_?)del
|
|
|
NC_000023.10:g.(?_22151620)_(22151761_?)del
|
|
|
NC_000023.10:g.(?_22151620)_(22208639_?)dup
|
|
|
NC_000023.10:g.(?_22151640)_(22151741_?)dup
|
|
|
NC_000023.10:g.(?_22186409)_(22186526_?)del
|
|
|
NC_000023.10:g.(?_22186409)_(22208639_?)del
|
|
|
NC_000023.10:g.(?_22186409)_(22208639_?)dup
|
|
|
NC_000023.10:g.(?_22186409)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22186409)_(22266301_?)dup
|
|
|
NC_000023.10:g.(?_22186468)_22186740del
|
|
|
NC_000023.10:g.(?_22196370)_(22196513_?)del
|
|
|
NC_000023.10:g.(?_22208541)_(22208639_?)del
|
|
|
NC_000023.10:g.(?_22231001)_(22231095_?)del
|
|
|
NC_000023.10:g.(?_22231001)_(22266301_?)dup
|
|
|
NC_000023.10:g.(?_22231021)_(22245728_?)del
|
|
|
NC_000023.10:g.(?_22237133)_(22239880_?)del
|
|
|
NC_000023.10:g.(?_22237153)_(22245728_?)del
|
|
|
NC_000023.10:g.(?_22239710)_(22239880_?)del
|
|
|
NC_000023.10:g.(?_22239710)_(22245748_?)del
|
|
|
NC_000023.10:g.(?_22239710)_(22245748_?)dup
|
|
|
NC_000023.10:g.(?_22244540)_(22244645_?)del
|
|
|
NC_000023.10:g.(?_22244540)_(22245748_?)del
|
|
|
NC_000023.10:g.(?_22245604)_(22245748_?)del
|
|
|
NC_000023.10:g.(?_22263430)_(22263546_?)del
|
|
|
NC_000023.10:g.(?_22263430)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22263430)_(22266301_?)dup
|
|
|
NC_000023.10:g.(?_22263450)_(22263526_?)del
|
|
|
NC_000023.10:g.(?_22265948)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22265969)_(22266663_?)del
|
|
|
NC_000023.11:g.(?_22007157)_(22038537_?)del
|
|
|
NC_000023.11:g.(?_22033006)_(22033123_?)del
|
|
|
NC_000023.11:g.(?_22033006)_(22047211_?)del
|
|
|
NC_000023.11:g.(?_22033006)_(22077702_?)del
|
|
|
NC_000023.11:g.(?_22076388)_(22076474_?)del
|
|
|
NC_000023.11:g.(?_22076388)_(22077702_?)del
|
|
|
NC_000023.11:g.(?_22090429)_(22094099_?)del
|
|
|
NC_000023.11:g.(?_22096955)_(22097038_?)del
|
|
|
NC_000023.11:g.(?_22111467)_(22114586_?)del
|
|
|
NC_000023.11:g.(?_22114458)_(22114586_?)del
|
|
|
NC_000023.11:g.(?_22133523)_(22133624_?)del
|
|
|
NC_000023.11:g.(?_22133523)_(22168389_?)dup
|
|
|
NC_000023.11:g.(?_22133523)_(22227611_?)dup
|
|
|
NC_000023.11:g.(?_22168312)_(22190502_?)dup
|
|
|
NC_000023.11:g.(?_22168312)_(22227611_?)dup
|
|
|
NC_000023.11:g.(?_22168312)_(22247953_?)del
|
|
|
NC_000023.11:g.(?_22178273)_(22178376_?)del
|
|
|
NC_000023.11:g.(?_22178273)_(22190502_?)del
|
|
|
NC_000023.11:g.(?_22178273)_(22190502_?)dup
|
|
|
NC_000023.11:g.(?_22190444)_(22190502_?)del
|
|
|
NC_000023.11:g.(?_22190444)_(22227611_?)del
|
|
|
NC_000023.11:g.(?_22212904)_(22212958_?)del
|
|
|
NC_000023.11:g.(?_22219036)_(22221743_?)del
|
|
|
NC_000023.11:g.(?_22219036)_(22247953_?)del
|
|
|
NC_000023.11:g.(?_22221613)_(22227611_?)dup
|
|
|
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.-11C>T
|
|
|
NM_000444.6(PHEX):c.-126C>A
|
rs185830047
|
|
NM_000444.6(PHEX):c.-429T>C
|
|
|
NM_000444.6(PHEX):c.1009G>T (p.Glu337Ter)
|
rs770491624
|
|
NM_000444.6(PHEX):c.1017GGT[1] (p.Val341del)
|
rs1930299982
|
|
NM_000444.6(PHEX):c.1019del (p.Val340fs)
|
|
|
NM_000444.6(PHEX):c.101del (p.Gly34fs)
|
rs1602241023
|
|
NM_000444.6(PHEX):c.1021del (p.Val341fs)
|
rs1930300418
|
|
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.1030_1038del (p.Pro344_Tyr346del)
|
rs1556026030
|
|
NM_000444.6(PHEX):c.1031C>T (p.Pro344Leu)
|
|
|
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter)
|
rs1569391212
|
|
NM_000444.6(PHEX):c.1036T>G (p.Tyr346Asp)
|
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.103_104del (p.Thr35fs)
|
rs1926874291
|
|
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.1046dup (p.Asp349fs)
|
rs1057517792
|
|
NM_000444.6(PHEX):c.104C>T (p.Thr35Met)
|
|
|
NM_000444.6(PHEX):c.1050del (p.Leu350fs)
|
|
|
NM_000444.6(PHEX):c.1052_1053insAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATTTGTT (p.Phe351delinsLeuAspIleProAsnAlaArgTer)
|
rs2147047486
|
|
NM_000444.6(PHEX):c.1053_1077dup (p.Lys360Ter)
|
rs2147047519
|
|
NM_000444.6(PHEX):c.1059del (p.Ile353_Leu354insTer)
|
rs2147047536
|
|
NM_000444.6(PHEX):c.1062A>G (p.Leu354=)
|
|
|
NM_000444.6(PHEX):c.1065del (p.Ser356fs)
|
|
|
NM_000444.6(PHEX):c.1075_1076del (p.Lys359fs)
|
|
|
NM_000444.6(PHEX):c.1076del (p.Lys359fs)
|
|
|
NM_000444.6(PHEX):c.1079+1G>A
|
rs886039583
|
|
NM_000444.6(PHEX):c.1079+1G>T
|
rs886039583
|
|
NM_000444.6(PHEX):c.1079+2T>G
|
rs2147047585
|
|
NM_000444.6(PHEX):c.1079+2_1079+5del
|
rs2147047571
|
|
NM_000444.6(PHEX):c.1079+5G>A
|
rs1556026071
|
|
NM_000444.6(PHEX):c.1080-10_1080-9delinsTA
|
|
|
NM_000444.6(PHEX):c.1080-1G>A
|
rs886041695
|
|
NM_000444.6(PHEX):c.1080-1_1084del
|
|
|
NM_000444.6(PHEX):c.1080-2A>G
|
rs886041358
|
|
NM_000444.6(PHEX):c.1080-3C>G
|
rs1930961231
|
|
NM_000444.6(PHEX):c.1087G>C (p.Ala363Pro)
|
rs2147061892
|
|
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val)
|
rs936722686
|
|
NM_000444.6(PHEX):c.1091_1099dup (p.Leu366_Val367insAspTyrLeu)
|
rs1930962739
|
|
NM_000444.6(PHEX):c.109C>G (p.Leu37Val)
|
|
|
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
|
rs1602303865
|
|
NM_000444.6(PHEX):c.1102del (p.Trp368fs)
|
|
|
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)
|
rs1556029499
|
|
NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter)
|
rs1930963615
|
|
NM_000444.6(PHEX):c.1105A>T (p.Arg369Ter)
|
rs1930963832
|
|
NM_000444.6(PHEX):c.1109T>G (p.Met370Arg)
|
rs1930964041
|
|
NM_000444.6(PHEX):c.1111G>A (p.Val371Ile)
|
|
|
NM_000444.6(PHEX):c.1116T>A (p.Tyr372Ter)
|
rs1930964729
|
|
NM_000444.6(PHEX):c.1119C>T (p.Ser373=)
|
|
|
NM_000444.6(PHEX):c.1125T>A (p.Ile375=)
|
|
|
NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro)
|
rs1930965902
|
|
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.1137_1149del (p.Arg380fs)
|
rs2147061992
|
|
NM_000444.6(PHEX):c.1137del (p.Ser379fs)
|
|
|
NM_000444.6(PHEX):c.1138del (p.Arg380fs)
|
rs2147062018
|
|
NM_000444.6(PHEX):c.1138dup (p.Arg380fs)
|
rs1930967080
|
|
NM_000444.6(PHEX):c.1142_1143del (p.Arg381fs)
|
|
|
NM_000444.6(PHEX):c.1146del (p.Gln383fs)
|
rs1930968296
|
|
NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter)
|
rs1064796942
|
|
NM_000444.6(PHEX):c.1149G>A (p.Gln383=)
|
|
|
NM_000444.6(PHEX):c.1152T>G (p.Tyr384Ter)
|
rs2147062072
|
|
NM_000444.6(PHEX):c.1152_1153del (p.Tyr384_Arg385delinsTer)
|
|
|
NM_000444.6(PHEX):c.1154G>A (p.Arg385Lys)
|
|
|
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
|
rs1602304005
|
|
NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter)
|
rs886041357
|
|
NM_000444.6(PHEX):c.1168del (p.Ser390fs)
|
rs2147062104
|
|
NM_000444.6(PHEX):c.1173+1G>A
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1173+1G>C
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1173+1G>T
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1173+1del
|
rs1930970613
|
|
NM_000444.6(PHEX):c.1173+2T>A
|
|
|
NM_000444.6(PHEX):c.1173+2T>C
|
rs1057517896
|
|
NM_000444.6(PHEX):c.1173+5G>A
|
rs1930971527
|
|
NM_000444.6(PHEX):c.1173+5G>T
|
|
|
NM_000444.6(PHEX):c.1174-10_1174-1del
|
|
|
NM_000444.6(PHEX):c.1174-11A>G
|
|
|
NM_000444.6(PHEX):c.1174-11A>T
|
|
|
NM_000444.6(PHEX):c.1174-14A>G
|
|
|
NM_000444.6(PHEX):c.1174-1G>A
|
rs2147065556
|
|
NM_000444.6(PHEX):c.1174-2A>G
|
rs1064796927
|
|
NM_000444.6(PHEX):c.1174-2A>T
|
|
|
NM_000444.6(PHEX):c.1174-3C>G
|
rs1446526598
|
|
NM_000444.6(PHEX):c.1174-8T>C
|
|
|
NM_000444.6(PHEX):c.1174-9C>G
|
|
|
NM_000444.6(PHEX):c.118+1G>A
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+286del
|
rs3216804
|
|
NM_000444.6(PHEX):c.118+2del
|
rs1926875686
|
|
NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter)
|
rs1057517793
|
|
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs)
|
rs1602307030
|
|
NM_000444.6(PHEX):c.1185del (p.Thr396fs)
|
rs1602307030
|
|
NM_000444.6(PHEX):c.119-10_119-9del
|
|
|
NM_000444.6(PHEX):c.119-17G>A
|
|
|
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.119-4dup
|
|
|
NM_000444.6(PHEX):c.1196T>C (p.Leu399Ser)
|
|
|
NM_000444.6(PHEX):c.1196dup (p.Leu399fs)
|
|
|
NM_000444.6(PHEX):c.1202del (p.Pro401fs)
|
rs1064793847
|
|
NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter)
|
rs886039745
|
|
NM_000444.6(PHEX):c.1206del (p.Gln402fs)
|
rs2147065629
|
|
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
|
rs1602307078
|
|
NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter)
|
rs886039584
|
|
NM_000444.6(PHEX):c.1210del (p.Asp404fs)
|
rs2147065642
|
|
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.1218T>A (p.Cys406Ter)
|
rs1416252114
|
|
NM_000444.6(PHEX):c.1219G>A (p.Val407Ile)
|
|
|
NM_000444.6(PHEX):c.1220T>G (p.Val407Gly)
|
rs764695823
|
|
NM_000444.6(PHEX):c.1224del (p.Phe409fs)
|
rs1931146041
|
|
NM_000444.6(PHEX):c.1229_1232del (p.Ile410fs)
|
rs2147065695
|
|
NM_000444.6(PHEX):c.1230T>G (p.Ile410Met)
|
|
|
NM_000444.6(PHEX):c.1237G>C (p.Ala413Pro)
|
rs1931147505
|
|
NM_000444.6(PHEX):c.1240del (p.Leu414fs)
|
|
|
NM_000444.6(PHEX):c.1241del (p.Leu414fs)
|
rs886041446
|
|
NM_000444.6(PHEX):c.1249G>A (p.Val417Ile)
|
|
|
NM_000444.6(PHEX):c.124del (p.Gln42fs)
|
rs1927126429
|
|
NM_000444.6(PHEX):c.1250T>G (p.Val417Gly)
|
|
|
NM_000444.6(PHEX):c.1263G>A (p.Met421Ile)
|
|
|
NM_000444.6(PHEX):c.1266del (p.Phe422fs)
|
rs2147065739
|
|
NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
|
|
|
NM_000444.6(PHEX):c.1269del (p.Asp424fs)
|
rs1556030487
|
|
NM_000444.6(PHEX):c.1282C>T (p.Gln428Ter)
|
rs2147065777
|
|
NM_000444.6(PHEX):c.1283del (p.Gln428fs)
|
|
|
NM_000444.6(PHEX):c.1292del (p.Lys431fs)
|
|
|
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)
|
rs1556030502
|
|
NM_000444.6(PHEX):c.1302+11_1302+16del
|
|
|
NM_000444.6(PHEX):c.1302+1G>A
|
rs1131691841
|
|
NM_000444.6(PHEX):c.1302+1G>C
|
rs1131691841
|
|
NM_000444.6(PHEX):c.1302+1G>T
|
rs1131691841
|
|
NM_000444.6(PHEX):c.1302+2T>A
|
rs2147065825
|
|
NM_000444.6(PHEX):c.1302+4_1302+10del
|
rs1931151383
|
|
NM_000444.6(PHEX):c.1302G>A (p.Met434Ile)
|
|
|
NM_000444.6(PHEX):c.1303-1G>A
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-1G>C
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-2A>G
|
|
|
NM_000444.6(PHEX):c.1303-3T>C
|
|
|
NM_000444.6(PHEX):c.1304T>G (p.Met435Arg)
|
rs1932101873
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1309dup (p.Glu437fs)
|
rs886041588
|
|
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)
|
rs1057517904
|
|
NM_000444.6(PHEX):c.1313del (p.Leu438fs)
|
rs1932102521
|
|
NM_000444.6(PHEX):c.1316T>G (p.Val439Gly)
|
rs2147086323
|
|
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
|
|
|
NM_000444.6(PHEX):c.1323C>T (p.Gly441=)
|
|
|
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)
|
rs777167473
|
|
NM_000444.6(PHEX):c.1324del (p.Val442fs)
|
rs1602324484
|
|
NM_000444.6(PHEX):c.1325T>A (p.Val442Asp)
|
|
|
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)
|
rs2147086366
|
|
NM_000444.6(PHEX):c.1328G>C (p.Arg443Pro)
|
rs1285918997
|
|
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)
|
rs2147086395
|
|
NM_000444.6(PHEX):c.1332G>A (p.Trp444Ter)
|
rs2147086402
|
|
NM_000444.6(PHEX):c.1334C>A (p.Ala445Asp)
|
rs2147086411
|
|
NM_000444.6(PHEX):c.1335C>A (p.Ala445=)
|
rs886841607
|
|
NM_000444.6(PHEX):c.1335del (p.Phe446fs)
|
rs1932104985
|
|
NM_000444.6(PHEX):c.1336_1337insAATA (p.Phe446Ter)
|
rs2147086429
|
|
NM_000444.6(PHEX):c.1344del (p.Asp448fs)
|
|
|
NM_000444.6(PHEX):c.1345del (p.Met449fs)
|
|
|
NM_000444.6(PHEX):c.1347G>A (p.Met449Ile)
|
|
|
NM_000444.6(PHEX):c.134T>A (p.Leu45Ter)
|
rs886039661
|
|
NM_000444.6(PHEX):c.134T>G (p.Leu45Ter)
|
rs886039661
|
|
NM_000444.6(PHEX):c.134_135insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGTCTCTT (p.Leu45fs)
|
rs2146979498
|
|
NM_000444.6(PHEX):c.1357_1358del (p.Glu453fs)
|
|
|
NM_000444.6(PHEX):c.135_136del (p.Leu47fs)
|
rs1602244774
|
|
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter)
|
rs886039585
|
|
NM_000444.6(PHEX):c.1364del (p.Glu455fs)
|
|
|
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)
|
rs886041359
|
|
NM_000444.6(PHEX):c.1368G>A (p.Trp456Ter)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)
|
rs2147086514
|
|
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
|
rs374873766
|
|
NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg)
|
rs374873766
|
|
NM_000444.6(PHEX):c.1387del (p.Arg463fs)
|
rs1932109241
|
|
NM_000444.6(PHEX):c.1387dup (p.Arg463fs)
|
rs1932109241
|
|
NM_000444.6(PHEX):c.1390_1404+1del
|
rs2147086549
|
|
NM_000444.6(PHEX):c.1394C>A (p.Ala465Asp)
|
rs1932109437
|
|
NM_000444.6(PHEX):c.1396A>C (p.Lys466Gln)
|
|
|
NM_000444.6(PHEX):c.1398dup (p.Glu467fs)
|
rs2147086570
|
|
NM_000444.6(PHEX):c.1399G>T (p.Glu467Ter)
|
rs1932110045
|
|
NM_000444.6(PHEX):c.1400_1404del (p.Glu467fs)
|
rs1932109848
|
|
NM_000444.6(PHEX):c.1402A>G (p.Lys468Glu)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1403A>C (p.Lys468Thr)
|
rs1932110651
|
|
NM_000444.6(PHEX):c.1404+1G>C
|
rs2147086611
|
|
NM_000444.6(PHEX):c.1404+28dup
|
rs747974210
|
|
NM_000444.6(PHEX):c.1404+2T>G
|
rs193922454
|
|
NM_000444.6(PHEX):c.1404+2_1404+6del
|
rs2147086590
|
|
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)
|
rs754449807
|
|
NM_000444.6(PHEX):c.1404G>T (p.Lys468Asn)
|
|
|
NM_000444.6(PHEX):c.1405-2_1415del
|
|
|
NM_000444.6(PHEX):c.1405-3739_1459del
|
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1406C>T (p.Ala469Val)
|
|
|
NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal)
|
rs1933405005
|
|
NM_000444.6(PHEX):c.1415T>A (p.Val472Asp)
|
|
|
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.1434T>A (p.Tyr478Ter)
|
rs886041360
|
|
NM_000444.6(PHEX):c.1434T>C (p.Tyr478=)
|
rs886041360
|
|
NM_000444.6(PHEX):c.1445_1482+235del
|
|
|
NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs)
|
rs2147118758
|
|
NM_000444.6(PHEX):c.1448T>C (p.Met483Thr)
|
|
|
NM_000444.6(PHEX):c.1454A>G (p.Asp485Gly)
|
|
|
NM_000444.6(PHEX):c.1461del (p.His487fs)
|
|
|
NM_000444.6(PHEX):c.1474del (p.Leu492fs)
|
|
|
NM_000444.6(PHEX):c.1479del (p.Ala494fs)
|
|
|
NM_000444.6(PHEX):c.1479dup (p.Ala494fs)
|
rs2147118833
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1482+1G>C
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1482+1G>T
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1482+1del
|
|
|
NM_000444.6(PHEX):c.1482+2T>A
|
rs1933408913
|
|
NM_000444.6(PHEX):c.1482+2T>G
|
rs1933408913
|
|
NM_000444.6(PHEX):c.1482+3A>C
|
rs1933409121
|
|
NM_000444.6(PHEX):c.1482+5G>C
|
rs1269067103
|
|
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)
|
rs2147118855
|
|
NM_000444.6(PHEX):c.1483-1G>A
|
rs1057517794
|
|
NM_000444.6(PHEX):c.1483-1G>C
|
rs1057517794
|
|
NM_000444.6(PHEX):c.1483-2A>G
|
rs1556070724
|
|
NM_000444.6(PHEX):c.1483-312=
|
rs5951715
|
|
NM_000444.6(PHEX):c.1495G>T (p.Glu499Ter)
|
|
|
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
|
rs1602363343
|
|
NM_000444.6(PHEX):c.1500C>T (p.Ala500=)
|
|
|
NM_000444.6(PHEX):c.1501_1506del (p.Asp501_Tyr502del)
|
rs2147128100
|
|
NM_000444.6(PHEX):c.1506C>G (p.Tyr502Ter)
|
rs1933773048
|
|
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)
|
rs2147128134
|
|
NM_000444.6(PHEX):c.1516G>A (p.Val506Ile)
|
|
|
NM_000444.6(PHEX):c.1519C>G (p.Leu507Val)
|
rs1933773605
|
|
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)
|
rs1064794303
|
|
NM_000444.6(PHEX):c.1520T>C (p.Leu507Pro)
|
rs1933773762
|
|
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)
|
rs1556070890
|
|
NM_000444.6(PHEX):c.1525del (p.Thr509fs)
|
rs1064793461
|
|
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro)
|
rs915608304
|
|
NM_000444.6(PHEX):c.152_162del (p.Gln51fs)
|
rs1064793526
|
|
NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter)
|
rs753522380
|
|
NM_000444.6(PHEX):c.1532A>C (p.Lys511Thr)
|
|
|
NM_000444.6(PHEX):c.1535del (p.Tyr512fs)
|
rs1933775645
|
|
NM_000444.6(PHEX):c.1536T>A (p.Tyr512Ter)
|
rs2147128208
|
|
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
|
|
|
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)
|
rs886041361
|
|
NM_000444.6(PHEX):c.1543_1544del (p.Gln515fs)
|
rs2147128222
|
|
NM_000444.6(PHEX):c.154G>T (p.Glu52Ter)
|
rs886041626
|
|
NM_000444.6(PHEX):c.1551T>C (p.Asp517=)
|
|
|
NM_000444.6(PHEX):c.1554C>A (p.Phe518Leu)
|
|
|
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
|
|
|
NM_000444.6(PHEX):c.1560G>A (p.Trp520Ter)
|
|
|
NM_000444.6(PHEX):c.1560del (p.Trp520fs)
|
rs1556071086
|
|
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)
|
rs1556071123
|
|
NM_000444.6(PHEX):c.1572C>T (p.Ala524=)
|
|
|
NM_000444.6(PHEX):c.1572dup (p.Val525fs)
|
rs1556071138
|
|
NM_000444.6(PHEX):c.1573G>A (p.Val525Ile)
|
|
|
NM_000444.6(PHEX):c.1586+14A>T
|
rs771287470
|
|
NM_000444.6(PHEX):c.1586+1G>A
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+1G>C
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+1G>T
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+2T>A
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+2T>G
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+3G>T
|
rs2147128300
|
|
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+5G>C
|
|
|
NM_000444.6(PHEX):c.1586+6T>G
|
rs1057518214
|
|
NM_000444.6(PHEX):c.1586_1586+1del
|
rs886041362
|
|
NM_000444.6(PHEX):c.1587-14T>C
|
|
|
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>A (p.Trp530Ter)
|
rs1556091855
|
|
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)
|
rs1556091855
|
|
NM_000444.6(PHEX):c.1590del (p.Trp530fs)
|
|
|
NM_000444.6(PHEX):c.1593dup (p.Thr532fs)
|
rs1556091873
|
|
NM_000444.6(PHEX):c.15_16del (p.Gly6fs)
|
rs1569364701
|
|
NM_000444.6(PHEX):c.1600C>A (p.Pro534Thr)
|
rs2147139052
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1604C>T (p.Thr535Met)
|
|
|
NM_000444.6(PHEX):c.161dup (p.Cys54fs)
|
rs2146979558
|
|
NM_000444.6(PHEX):c.1621T>G (p.Tyr541Asp)
|
rs2147139089
|
|
NM_000444.6(PHEX):c.1625G>C (p.Ser542Thr)
|
|
|
NM_000444.6(PHEX):c.1626T>C (p.Ser542=)
|
|
|
NM_000444.6(PHEX):c.1627_1645+12del
|
rs1934164465
|
|
NM_000444.6(PHEX):c.1632C>T (p.Ser544=)
|
|
|
NM_000444.6(PHEX):c.1638C>A (p.Asn546Lys)
|
|
|
NM_000444.6(PHEX):c.1640A>C (p.Gln547Pro)
|
rs2147139114
|
|
NM_000444.6(PHEX):c.1643T>C (p.Ile548Thr)
|
|
|
NM_000444.6(PHEX):c.1645+187dup
|
rs202159277
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1645+1G>T
|
|
|
NM_000444.6(PHEX):c.1645+212A>G
|
rs16981831
|
|
NM_000444.6(PHEX):c.1645+2T>G
|
rs2147139131
|
|
NM_000444.6(PHEX):c.1645+4A>C
|
rs2147139133
|
|
NM_000444.6(PHEX):c.1645+4A>G
|
|
|
NM_000444.6(PHEX):c.1645+5G>A
|
rs1085307522
|
|
NM_000444.6(PHEX):c.1645+5G>C
|
rs1085307522
|
|
NM_000444.6(PHEX):c.1645+6T>A
|
rs1556092037
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000444.6(PHEX):c.171del (p.Glu58fs)
|
|
|
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser)
|
rs1602244810
|
|
NM_000444.6(PHEX):c.177C>A (p.Cys59Ter)
|
rs2146979567
|
|
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)
|
rs770630990
|
|
NM_000444.6(PHEX):c.184G>A (p.Ala62Thr)
|
|
|
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
|
rs1602244836
|
|
NM_000444.6(PHEX):c.186G>A (p.Ala62=)
|
|
|
NM_000444.6(PHEX):c.187+12T>C
|
|
|
NM_000444.6(PHEX):c.187+1G>A
|
rs1556012100
|
|
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.187+2T>A
|
rs1927131178
|
|
NM_000444.6(PHEX):c.187+3_187+6del
|
rs2146979608
|
|
NM_000444.6(PHEX):c.187+9_187+10del
|
|
|
NM_000444.6(PHEX):c.188-17A>T
|
rs2146987618
|
|
NM_000444.6(PHEX):c.188-1G>A
|
rs1927567325
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.188-2A>C
|
|
|
NM_000444.6(PHEX):c.198C>G (p.Ile66Met)
|
|
|
NM_000444.6(PHEX):c.1A>T (p.Met1Leu)
|
|
|
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)
|
rs2146987638
|
|
NM_000444.6(PHEX):c.200_201insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCCTGCCATCTT (p.Leu67delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_000444.6(PHEX):c.201_202dup (p.Ser68fs)
|
rs1927568383
|
|
NM_000444.6(PHEX):c.202dup (p.Ser68fs)
|
rs1927568383
|
|
NM_000444.6(PHEX):c.204del (p.Ser68fs)
|
rs1927568868
|
|
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.21delinsACTGG (p.Ser7fs)
|
rs1926867009
|
|
NM_000444.6(PHEX):c.221_222del (p.Val74fs)
|
rs886039580
|
|
NM_000444.6(PHEX):c.227_240del (p.Pro76fs)
|
rs2146987683
|
|
NM_000444.6(PHEX):c.229T>A (p.Cys77Ser)
|
rs2146987697
|
|
NM_000444.6(PHEX):c.230G>A (p.Cys77Tyr)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.230G>C (p.Cys77Ser)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.239T>C (p.Phe80Ser)
|
|
|
NM_000444.6(PHEX):c.239del (p.Phe80fs)
|
|
|
NM_000444.6(PHEX):c.241T>C (p.Phe81Leu)
|
rs1927572565
|
|
NM_000444.6(PHEX):c.244C>T (p.Arg82Trp)
|
|
|
NM_000444.6(PHEX):c.245G>A (p.Arg82Gln)
|
|
|
NM_000444.6(PHEX):c.245G>T (p.Arg82Leu)
|
|
|
NM_000444.6(PHEX):c.250G>A (p.Ala84Thr)
|
|
|
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
|
|
|
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp)
|
rs1556014284
|
|
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.255T>A (p.Cys85Ter)
|
rs2146987767
|
|
NM_000444.6(PHEX):c.261_264dup (p.Ile89fs)
|
|
|
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter)
|
rs1569369653
|
|
NM_000444.6(PHEX):c.264G>A (p.Trp88Ter)
|
|
|
NM_000444.6(PHEX):c.275_280delinsT (p.Asn92fs)
|
rs1927577124
|
|
NM_000444.6(PHEX):c.27_28insA (p.Glu10fs)
|
rs1926868266
|
|
NM_000444.6(PHEX):c.282del (p.Glu96fs)
|
rs1602251992
|
|
NM_000444.6(PHEX):c.286G>A (p.Glu96Lys)
|
|
|
NM_000444.6(PHEX):c.289_349+836delinsAAGATATGCCT
|
rs1927579212
|
|
NM_000444.6(PHEX):c.292dup (p.Met98fs)
|
|
|
NM_000444.6(PHEX):c.295_304del (p.Pro99fs)
|
|
|
NM_000444.6(PHEX):c.299G>A (p.Ser100Asn)
|
|
|
NM_000444.6(PHEX):c.2T>C (p.Met1Thr)
|
rs2146974183
|
|
NM_000444.6(PHEX):c.304G>A (p.Gly102Arg)
|
rs1927580756
|
|
NM_000444.6(PHEX):c.304G>T (p.Gly102Trp)
|
rs1927580756
|
|
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)
|
rs2146987874
|
|
NM_000444.6(PHEX):c.307del (p.Val103fs)
|
rs1927580964
|
|
NM_000444.6(PHEX):c.30_36del (p.Thr11fs)
|
rs1926867732
|
|
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter)
|
rs1085307642
|
|
NM_000444.6(PHEX):c.316del (p.Trp106fs)
|
rs2146987897
|
|
NM_000444.6(PHEX):c.317G>A (p.Trp106Ter)
|
|
|
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)
|
rs193922458
|
|
NM_000444.6(PHEX):c.324A>G (p.Arg108=)
|
|
|
NM_000444.6(PHEX):c.328_330del (p.Asn110del)
|
|
|
NM_000444.6(PHEX):c.329dup (p.Asn110fs)
|
|
|
NM_000444.6(PHEX):c.332_334del (p.Val111del)
|
rs1064795949
|
|
NM_000444.6(PHEX):c.33T>C (p.Thr11=)
|
rs886043583
|
|
NM_000444.6(PHEX):c.349+1G>A
|
rs193922459
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
NM_000444.6(PHEX):c.349+1G>T
|
rs193922459
|
|
NM_000444.6(PHEX):c.349+2T>C
|
rs2146987952
|
|
NM_000444.6(PHEX):c.349+2del
|
|
|
NM_000444.6(PHEX):c.349+2dup
|
rs1927584800
|
|
NM_000444.6(PHEX):c.350-18C>G
|
|
|
NM_000444.6(PHEX):c.350-1G>A
|
rs2147019098
|
|
NM_000444.6(PHEX):c.350-1G>C
|
rs2147019098
|
|
NM_000444.6(PHEX):c.350-2A>G
|
rs1929150904
|
|
NM_000444.6(PHEX):c.352C>T (p.Leu118Phe)
|
|
|
NM_000444.6(PHEX):c.356T>G (p.Leu119Trp)
|
rs2147019113
|
|
NM_000444.6(PHEX):c.361A>T (p.Lys121Ter)
|
rs2147019118
|
|
NM_000444.6(PHEX):c.366A>G (p.Ser122=)
|
|
|
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
|
rs1602273769
|
|
NM_000444.6(PHEX):c.367del (p.Ile123fs)
|
|
|
NM_000444.6(PHEX):c.373A>T (p.Arg125Ter)
|
|
|
NM_000444.6(PHEX):c.378G>A (p.Arg126=)
|
|
|
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
|
rs2146974254
|
|
NM_000444.6(PHEX):c.386C>G (p.Thr129Ser)
|
|
|
NM_000444.6(PHEX):c.387C>T (p.Thr129=)
|
|
|
NM_000444.6(PHEX):c.397C>G (p.Gln133Glu)
|
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
NM_000444.6(PHEX):c.399G>A (p.Gln133=)
|
rs1602273860
|
|
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.3G>T (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.403G>A (p.Ala135Thr)
|
|
|
NM_000444.6(PHEX):c.404C>A (p.Ala135Asp)
|
rs1929155246
|
|
NM_000444.6(PHEX):c.409dup (p.Ile137fs)
|
rs2147019218
|
|
NM_000444.6(PHEX):c.411_417del (p.Leu138fs)
|
|
|
NM_000444.6(PHEX):c.413_419dup (p.Ser141fs)
|
rs2147019228
|
|
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)
|
rs1556020460
|
|
NM_000444.6(PHEX):c.416A>G (p.Tyr139Cys)
|
rs1929155885
|
|
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter)
|
rs140678356
|
|
NM_000444.6(PHEX):c.419C>T (p.Ser140Leu)
|
|
|
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.423del (p.Cys142fs)
|
rs2147019260
|
|
NM_000444.6(PHEX):c.424del (p.Cys142fs)
|
rs1556020474
|
|
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser)
|
rs1064797048
|
|
NM_000444.6(PHEX):c.425G>T (p.Cys142Phe)
|
rs1064797048
|
|
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter)
|
rs1057517787
|
|
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)
|
rs2147019297
|
|
NM_000444.6(PHEX):c.436+19T>G
|
rs1057523486
|
|
NM_000444.6(PHEX):c.436+1G>A
|
rs1057517788
|
|
NM_000444.6(PHEX):c.436+1G>C
|
rs1057517788
|
|
NM_000444.6(PHEX):c.436+2T>A
|
rs1929158021
|
|
NM_000444.6(PHEX):c.436+2_436+3del
|
|
|
NM_000444.6(PHEX):c.436+3G>C
|
rs2147019311
|
|
NM_000444.6(PHEX):c.436+3G>T
|
|
|
NM_000444.6(PHEX):c.436+4A>G
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+4A>T
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+5G>A
|
rs1602273945
|
|
NM_000444.6(PHEX):c.436+5G>T
|
rs1602273945
|
|
NM_000444.6(PHEX):c.436+6T>A
|
rs1556020485
|
|
NM_000444.6(PHEX):c.436+6T>C
|
rs1556020485
|
|
NM_000444.6(PHEX):c.437-17T>C
|
|
|
NM_000444.6(PHEX):c.437-1G>C
|
rs2147020339
|
|
NM_000444.6(PHEX):c.437-2A>C
|
rs1929200391
|
|
NM_000444.6(PHEX):c.437-2A>G
|
rs1929200391
|
|
NM_000444.6(PHEX):c.437-3C>G
|
rs1602274684
|
|
NM_000444.6(PHEX):c.440C>G (p.Ala147Gly)
|
|
|
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.444del (p.Ile148fs)
|
rs2147020361
|
|
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter)
|
rs886042025
|
|
NM_000444.6(PHEX):c.44C>G (p.Ala15Gly)
|
|
|
NM_000444.6(PHEX):c.455dup (p.Asp152fs)
|
rs2147020395
|
|
NM_000444.6(PHEX):c.457dup (p.Ala153fs)
|
rs1929202609
|
|
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.467T>G (p.Leu156Arg)
|
|
|
NM_000444.6(PHEX):c.468del (p.Leu157fs)
|
rs2147020412
|
|
NM_000444.6(PHEX):c.468dup (p.Leu157fs)
|
rs2147020408
|
|
NM_000444.6(PHEX):c.479T>C (p.Leu160Pro)
|
rs2147020424
|
|
NM_000444.6(PHEX):c.480A>G (p.Leu160=)
|
|
|
NM_000444.6(PHEX):c.481dup (p.Arg161fs)
|
rs1602274746
|
|
NM_000444.6(PHEX):c.482G>C (p.Arg161Pro)
|
rs138497409
|
|
NM_000444.6(PHEX):c.488C>A (p.Ser163Ter)
|
|
|
NM_000444.6(PHEX):c.496C>T (p.Arg166Cys)
|
rs751230094
|
|
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
|
rs1064796435
|
|
NM_000444.6(PHEX):c.49A>T (p.Arg17Ter)
|
rs1926870020
|
|
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter)
|
rs1057517789
|
|
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter)
|
rs1556020770
|
|
NM_000444.6(PHEX):c.503C>T (p.Pro168Leu)
|
rs1057517790
|
|
NM_000444.6(PHEX):c.504C>T (p.Pro168=)
|
|
|
NM_000444.6(PHEX):c.505G>C (p.Val169Leu)
|
rs187824835
|
|
NM_000444.6(PHEX):c.508_529del (p.Leu170fs)
|
rs886041680
|
|
NM_000444.6(PHEX):c.532G>T (p.Gly178Trp)
|
|
|
NM_000444.6(PHEX):c.535del (p.Val179fs)
|
rs2147020604
|
|
NM_000444.6(PHEX):c.538del (p.Trp180fs)
|
rs886039581
|
|
NM_000444.6(PHEX):c.539G>A (p.Trp180Ter)
|
|
|
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.547_551dup (p.Phe185fs)
|
|
|
NM_000444.6(PHEX):c.551dup (p.Phe185fs)
|
rs1929210900
|
|
NM_000444.6(PHEX):c.552del (p.Lys184fs)
|
rs2147020659
|
|
NM_000444.6(PHEX):c.559del (p.Leu187fs)
|
rs1602274893
|
|
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter)
|
rs1057521143
|
|
NM_000444.6(PHEX):c.567_568del (p.Gln189fs)
|
rs2147020687
|
|
NM_000444.6(PHEX):c.569C>G (p.Thr190Arg)
|
|
|
NM_000444.6(PHEX):c.56C>A (p.Thr19Asn)
|
|
|
NM_000444.6(PHEX):c.572T>C (p.Leu191Pro)
|
|
|
NM_000444.6(PHEX):c.578C>T (p.Thr193Met)
|
|
|
NM_000444.6(PHEX):c.578del (p.Thr193fs)
|
|
|
NM_000444.6(PHEX):c.579G>A (p.Thr193=)
|
|
|
NM_000444.6(PHEX):c.582del (p.Arg195fs)
|
rs1602274929
|
|
NM_000444.6(PHEX):c.587del (p.Gly196fs)
|
rs2147020723
|
|
NM_000444.6(PHEX):c.589C>T (p.Gln197Ter)
|
|
|
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.593A>T (p.Tyr198Phe)
|
|
|
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
|
rs1602274950
|
|
NM_000444.6(PHEX):c.593dup (p.Tyr198Ter)
|
rs2147020737
|
|
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)
|
rs1085307950
|
|
NM_000444.6(PHEX):c.613del (p.Arg205fs)
|
rs1929214770
|
|
NM_000444.6(PHEX):c.614G>A (p.Arg205His)
|
|
|
NM_000444.6(PHEX):c.616_617del (p.Leu206fs)
|
rs2147020776
|
|
NM_000444.6(PHEX):c.617T>A (p.Leu206Ter)
|
rs886041694
|
|
NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)
|
rs886041694
|
|
NM_000444.6(PHEX):c.620A>G (p.Tyr207Cys)
|
|
|
NM_000444.6(PHEX):c.620_623del (p.Tyr207fs)
|
rs1929215753
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.626C>G (p.Ser209Cys)
|
|
|
NM_000444.6(PHEX):c.643dup (p.Ser215fs)
|
rs2147020850
|
|
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.64_65delinsTT (p.Ala22Phe)
|
rs2146974307
|
|
NM_000444.6(PHEX):c.652_655del (p.His218fs)
|
rs2147020868
|
|
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
|
rs774907553
|
|
NM_000444.6(PHEX):c.663+11G>T
|
|
|
NM_000444.6(PHEX):c.663+1G>A
|
rs1556020845
|
|
NM_000444.6(PHEX):c.663+1G>T
|
rs1556020845
|
|
NM_000444.6(PHEX):c.663+1_663+45del
|
rs1064796303
|
|
NM_000444.6(PHEX):c.663+1del
|
|
|
NM_000444.6(PHEX):c.663+20A>G
|
|
|
NM_000444.6(PHEX):c.663+2T>A
|
rs1057518348
|
|
NM_000444.6(PHEX):c.663+2T>C
|
rs1057518348
|
|
NM_000444.6(PHEX):c.663+6A>G
|
|
|
NM_000444.6(PHEX):c.663+8G>A
|
rs763608782
|
|
NM_000444.6(PHEX):c.663G>A (p.Lys221=)
|
rs1929220357
|
|
NM_000444.6(PHEX):c.664-18C>T
|
|
|
NM_000444.6(PHEX):c.664-1G>A
|
rs886041529
|
|
NM_000444.6(PHEX):c.664-1G>T
|
rs886041529
|
|
NM_000444.6(PHEX):c.664-2A>C
|
rs1131692026
|
|
NM_000444.6(PHEX):c.664-2A>G
|
|
|
NM_000444.6(PHEX):c.665_674del
|
rs2147035443
|
|
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter)
|
rs948246694
|
|
NM_000444.6(PHEX):c.673del (p.Ala225fs)
|
rs2147035468
|
|
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)
|
rs1556023495
|
|
NM_000444.6(PHEX):c.67_74del (p.Leu23fs)
|
rs1926871732
|
|
NM_000444.6(PHEX):c.67del (p.Leu23fs)
|
rs886043584
|
|
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)
|
rs1064793956
|
|
NM_000444.6(PHEX):c.682dup (p.Ser228fs)
|
rs1131691812
|
|
NM_000444.6(PHEX):c.68del (p.Leu23fs)
|
rs1926871899
|
|
NM_000444.6(PHEX):c.691G>A (p.Val231Met)
|
|
|
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn)
|
rs1057515843
|
|
NM_000444.6(PHEX):c.701A>G (p.Asp234Gly)
|
|
|
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.708T>C (p.Leu236=)
|
|
|
NM_000444.6(PHEX):c.717_721del (p.Ser239fs)
|
rs2147035547
|
|
NM_000444.6(PHEX):c.719del (p.Thr240fs)
|
rs2147035555
|
|
NM_000444.6(PHEX):c.724del (p.Ala242fs)
|
rs1929832980
|
|
NM_000444.6(PHEX):c.732+1G>A
|
|
|
NM_000444.6(PHEX):c.732+1G>T
|
rs2147035585
|
|
NM_000444.6(PHEX):c.732+3A>T
|
rs2147035595
|
|
NM_000444.6(PHEX):c.732+3_732+6del
|
rs2147035589
|
|
NM_000444.6(PHEX):c.732+4_732+5insCA
|
rs1929833587
|
|
NM_000444.6(PHEX):c.732+5G>A
|
rs1556023528
|
|
NM_000444.6(PHEX):c.732+5G>C
|
rs1556023528
|
|
NM_000444.6(PHEX):c.733-156_802del
|
|
|
NM_000444.6(PHEX):c.733-1G>A
|
rs886041223
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000444.6(PHEX):c.733-2A>C
|
rs886041496
|
|
NM_000444.6(PHEX):c.733-2A>T
|
rs886041496
|
|
NM_000444.6(PHEX):c.733-6T>A
|
|
|
NM_000444.6(PHEX):c.735T>G (p.Tyr245Ter)
|
|
|
NM_000444.6(PHEX):c.750C>A (p.Tyr250Ter)
|
rs1322662992
|
|
NM_000444.6(PHEX):c.750C>G (p.Tyr250Ter)
|
rs1322662992
|
|
NM_000444.6(PHEX):c.750del (p.Leu249_Tyr250insTer)
|
rs1930018183
|
|
NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
|
|
|
NM_000444.6(PHEX):c.753G>A (p.Lys251=)
|
|
|
NM_000444.6(PHEX):c.755T>C (p.Phe252Ser)
|
rs267606945
|
|
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del)
|
rs1064796391
|
|
NM_000444.6(PHEX):c.759G>A (p.Met253Ile)
|
rs267606946
|
|
NM_000444.6(PHEX):c.764A>T (p.Asp255Val)
|
|
|
NM_000444.6(PHEX):c.766A>C (p.Thr256Pro)
|
rs1930020278
|
|
NM_000444.6(PHEX):c.766_767dup (p.Ala257fs)
|
rs1930020467
|
|
NM_000444.6(PHEX):c.766dup (p.Thr256fs)
|
|
|
NM_000444.6(PHEX):c.770C>A (p.Ala257Asp)
|
|
|
NM_000444.6(PHEX):c.779T>G (p.Leu260Ter)
|
rs2147040166
|
|
NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer)
|
rs886041569
|
|
NM_000444.6(PHEX):c.779dup (p.Leu260fs)
|
rs886041569
|
|
NM_000444.6(PHEX):c.78dup (p.Val27fs)
|
rs1556010757
|
|
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
|
rs1602240890
|
|
NM_000444.6(PHEX):c.805C>G (p.His269Asp)
|
|
|
NM_000444.6(PHEX):c.807del (p.His269fs)
|
rs2147040206
|
|
NM_000444.6(PHEX):c.814A>T (p.Lys272Ter)
|
rs1930023604
|
|
NM_000444.6(PHEX):c.819_845del (p.Val274_Ala282del)
|
rs2147040227
|
|
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
|
rs2147040261
|
|
NM_000444.6(PHEX):c.826A>T (p.Arg276Ter)
|
rs2147040265
|
|
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter)
|
rs137853268
|
|
NM_000444.6(PHEX):c.832G>A (p.Glu278Lys)
|
|
|
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)
|
rs1556024541
|
|
NM_000444.6(PHEX):c.83del (p.Gly28fs)
|
rs1926873715
|
|
NM_000444.6(PHEX):c.840G>A (p.Lys280=)
|
|
|
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)
|
|
|
NM_000444.6(PHEX):c.846del (p.Glu283fs)
|
|
|
NM_000444.6(PHEX):c.847_849+2del
|
rs886041681
|
|
NM_000444.6(PHEX):c.849+1268G>T
|
rs919011936
|
|
NM_000444.6(PHEX):c.849+18dup
|
|
|
NM_000444.6(PHEX):c.849+1G>A
|
rs1057521144
|
|
NM_000444.6(PHEX):c.849+1G>T
|
rs1057521144
|
|
NM_000444.6(PHEX):c.849_849+2del
|
rs1602288211
|
|
NM_000444.6(PHEX):c.850-10_858del
|
|
|
NM_000444.6(PHEX):c.850-13C>T
|
|
|
NM_000444.6(PHEX):c.850-15A>C
|
|
|
NM_000444.6(PHEX):c.850-2A>G
|
rs1064793226
|
|
NM_000444.6(PHEX):c.850-3C>T
|
|
|
NM_000444.6(PHEX):c.850del (p.Glu283_Ile284insTer)
|
rs886039582
|
|
NM_000444.6(PHEX):c.853_856dup (p.Ile286fs)
|
|
|
NM_000444.6(PHEX):c.853dup (p.Met285fs)
|
rs2147043566
|
|
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
|
rs1602290398
|
|
NM_000444.6(PHEX):c.869del (p.Asn290fs)
|
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000444.6(PHEX):c.874dup (p.Thr292fs)
|
rs2147043596
|
|
NM_000444.6(PHEX):c.883del (p.Ala295fs)
|
rs1057517791
|
|
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)
|
rs193922460
|
|
NM_000444.6(PHEX):c.891C>G (p.Tyr297Ter)
|
rs2147043669
|
|
NM_000444.6(PHEX):c.895A>T (p.Lys299Ter)
|
rs772921325
|
|
NM_000444.6(PHEX):c.898del (p.Lys299_Met300insTer)
|
rs2147043679
|
|
NM_000444.6(PHEX):c.901A>C (p.Asn301His)
|
|
|
NM_000444.6(PHEX):c.907del (p.Ser303fs)
|
rs2147043710
|
|
NM_000444.6(PHEX):c.909_912dup (p.Leu305Ter)
|
|
|
NM_000444.6(PHEX):c.914T>C (p.Leu305Pro)
|
|
|
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
|
rs1064796929
|
|
NM_000444.6(PHEX):c.924_927dup (p.Pro310fs)
|
rs1930171625
|
|
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter)
|
rs1321395083
|
|
NM_000444.6(PHEX):c.933+1G>A
|
rs1556025314
|
|
NM_000444.6(PHEX):c.933+1G>T
|
rs1556025314
|
|
NM_000444.6(PHEX):c.933+2T>A
|
rs2147043777
|
|
NM_000444.6(PHEX):c.933+5G>C
|
|
|
NM_000444.6(PHEX):c.934-16_934-12delinsCTACCTAACTGAGAT
|
rs1930289987
|
|
NM_000444.6(PHEX):c.934-1G>A
|
rs1602292528
|
|
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.937G>A (p.Asp313Asn)
|
|
|
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter)
|
rs886041853
|
|
NM_000444.6(PHEX):c.942G>A (p.Trp314Ter)
|
rs1930292419
|
|
NM_000444.6(PHEX):c.943_946del (p.Leu315fs)
|
rs2147047042
|
|
NM_000444.6(PHEX):c.944dup (p.Tyr317fs)
|
|
|
NM_000444.6(PHEX):c.947G>T (p.Gly316Val)
|
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000444.6(PHEX):c.956A>C (p.Lys319Thr)
|
|
|
NM_000444.6(PHEX):c.956dup (p.Lys320fs)
|
rs1930293543
|
|
NM_000444.6(PHEX):c.958A>T (p.Lys320Ter)
|
|
|
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
|
NM_000444.6(PHEX):c.961_968dup (p.Asp323fs)
|
|
|
NM_000444.6(PHEX):c.974G>C (p.Arg325Thr)
|
|
|
NM_000444.6(PHEX):c.978_979del (p.Tyr327fs)
|
rs1930295441
|
|
NM_000444.6(PHEX):c.978_979dup (p.Tyr327fs)
|
rs1930295441
|
|
NM_000444.6(PHEX):c.980A>G (p.Tyr327Cys)
|
|
|
NM_000444.6(PHEX):c.981C>A (p.Tyr327Ter)
|
rs1930295914
|
|
NM_000444.6(PHEX):c.981C>G (p.Tyr327Ter)
|
rs1930295914
|
|
NM_000444.6(PHEX):c.985del (p.His329fs)
|
rs1556025994
|
|
NM_000444.6(PHEX):c.985dup (p.His329fs)
|
rs1556025994
|
|
NM_000444.6(PHEX):c.994del (p.Asp332fs)
|
rs2147047261
|
|
PHEX, A-G, NT-429
|
|
|
Single allele
|
|
|