NC_000023.10:g.(?_22050695)_(22132724_?)del
|
|
|
NC_000023.10:g.(?_22050695)_(22266301_?)del
|
|
|
NC_000023.10:g.(?_22065168)_(22132704_?)dup
|
|
|
NC_000023.10:g.(?_22094486)_(22115176_?)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.(?_22108527)_(22108635_?)del
|
|
|
NC_000023.10:g.(?_22112081)_(22117289_?)del
|
|
|
NC_000023.10:g.(?_22113485)_(22117289_?)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)_(22266301_?)del
|
|
|
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.(?_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.(?_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.(?_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.(?_22111467)_(22114586_?)del
|
|
|
NC_000023.11:g.(?_22114458)_(22114586_?)del
|
|
|
NC_000023.11:g.(?_22133523)_(22133624_?)del
|
|
|
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.(?_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
|
|
|
NM_000444.6(PHEX):c.1009G>T (p.Glu337Ter)
|
rs770491624
|
|
NM_000444.6(PHEX):c.1019del (p.Val340fs)
|
|
|
NM_000444.6(PHEX):c.1021del (p.Val341fs)
|
rs1930300418
|
|
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.1046dup (p.Asp349fs)
|
rs1057517792
|
|
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.1065del (p.Ser356fs)
|
|
|
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.1080-1G>A
|
rs886041695
|
|
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.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.1116T>A (p.Tyr372Ter)
|
rs1930964729
|
|
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.1152T>G (p.Tyr384Ter)
|
rs2147062072
|
|
NM_000444.6(PHEX):c.1152_1153del (p.Tyr384_Arg385delinsTer)
|
|
|
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>C
|
rs1057517896
|
|
NM_000444.6(PHEX):c.1173+5G>T
|
|
|
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.118+1G>A
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
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.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.1216T>C (p.Cys406Arg)
|
rs1556030465
|
|
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter)
|
rs1416252114
|
|
NM_000444.6(PHEX):c.1224del (p.Phe409fs)
|
rs1931146041
|
|
NM_000444.6(PHEX):c.1229_1232del (p.Ile410fs)
|
rs2147065695
|
|
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.124del (p.Gln42fs)
|
rs1927126429
|
|
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.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.1303-1G>A
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-2A>G
|
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1309dup (p.Glu437fs)
|
rs886041588
|
|
NM_000444.6(PHEX):c.1313del (p.Leu438fs)
|
rs1932102521
|
|
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)
|
rs777167473
|
|
NM_000444.6(PHEX):c.1332G>A (p.Trp444Ter)
|
rs2147086402
|
|
NM_000444.6(PHEX):c.1335del (p.Phe446fs)
|
rs1932104985
|
|
NM_000444.6(PHEX):c.1344del (p.Asp448fs)
|
|
|
NM_000444.6(PHEX):c.1345del (p.Met449fs)
|
|
|
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.1363G>T (p.Glu455Ter)
|
rs886039585
|
|
NM_000444.6(PHEX):c.1364del (p.Glu455fs)
|
|
|
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.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.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>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1403A>C (p.Lys468Thr)
|
rs1932110651
|
|
NM_000444.6(PHEX):c.1404+2_1404+6del
|
rs2147086590
|
|
NM_000444.6(PHEX):c.1404G>T (p.Lys468Asn)
|
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal)
|
rs1933405005
|
|
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter)
|
rs886041360
|
|
NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs)
|
rs2147118758
|
|
NM_000444.6(PHEX):c.1461del (p.His487fs)
|
|
|
NM_000444.6(PHEX):c.1479del (p.Ala494fs)
|
|
|
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+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.1483-1G>A
|
rs1057517794
|
|
NM_000444.6(PHEX):c.1483-1G>C
|
rs1057517794
|
|
NM_000444.6(PHEX):c.1495G>T (p.Glu499Ter)
|
|
|
NM_000444.6(PHEX):c.1506C>G (p.Tyr502Ter)
|
rs1933773048
|
|
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)
|
rs1064794303
|
|
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.1535del (p.Tyr512fs)
|
rs1933775645
|
|
NM_000444.6(PHEX):c.1536T>A (p.Tyr512Ter)
|
rs2147128208
|
|
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.1559G>A (p.Trp520Ter)
|
|
|
NM_000444.6(PHEX):c.1560G>A (p.Trp520Ter)
|
|
|
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+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>A (p.Trp530Ter)
|
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.161dup (p.Cys54fs)
|
rs2146979558
|
|
NM_000444.6(PHEX):c.1621T>G (p.Tyr541Asp)
|
rs2147139089
|
|
NM_000444.6(PHEX):c.1643T>C (p.Ile548Thr)
|
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1645+1G>T
|
|
|
NM_000444.6(PHEX):c.1645+2T>G
|
rs2147139131
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000444.6(PHEX):c.171del (p.Glu58fs)
|
|
|
NM_000444.6(PHEX):c.177C>A (p.Cys59Ter)
|
rs2146979567
|
|
NM_000444.6(PHEX):c.187+1G>A
|
rs1556012100
|
|
NM_000444.6(PHEX):c.187+1del
|
rs1556012094
|
|
NM_000444.6(PHEX):c.187+2T>A
|
rs1927131178
|
|
NM_000444.6(PHEX):c.188-1G>A
|
rs1927567325
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.1A>T (p.Met1Leu)
|
|
|
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.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.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.239del (p.Phe80fs)
|
|
|
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)
|
|
|
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.295_304del (p.Pro99fs)
|
|
|
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.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.329dup (p.Asn110fs)
|
|
|
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.350-1G>C
|
rs2147019098
|
|
NM_000444.6(PHEX):c.350-2A>G
|
rs1929150904
|
|
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.367del (p.Ile123fs)
|
|
|
NM_000444.6(PHEX):c.373A>T (p.Arg125Ter)
|
|
|
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)
|
rs151306376
|
|
NM_000444.6(PHEX):c.3G>T (p.Met1Ile)
|
rs1926865530
|
|
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.416A>G (p.Tyr139Cys)
|
rs1929155885
|
|
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter)
|
rs140678356
|
|
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
|
rs1602273900
|
|
NM_000444.6(PHEX):c.423del (p.Cys142fs)
|
rs2147019260
|
|
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.436+1G>A
|
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+4A>G
|
rs1057520344
|
|
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.444del (p.Ile148fs)
|
rs2147020361
|
|
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter)
|
rs886042025
|
|
NM_000444.6(PHEX):c.455dup (p.Asp152fs)
|
rs2147020395
|
|
NM_000444.6(PHEX):c.457dup (p.Ala153fs)
|
rs1929202609
|
|
NM_000444.6(PHEX):c.468dup (p.Leu157fs)
|
rs2147020408
|
|
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.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.508_529del (p.Leu170fs)
|
rs886041680
|
|
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.551dup (p.Phe185fs)
|
rs1929210900
|
|
NM_000444.6(PHEX):c.552del (p.Lys184fs)
|
rs2147020659
|
|
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter)
|
rs1057521143
|
|
NM_000444.6(PHEX):c.572T>C (p.Leu191Pro)
|
|
|
NM_000444.6(PHEX):c.578del (p.Thr193fs)
|
|
|
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.593dup (p.Tyr198Ter)
|
rs2147020737
|
|
NM_000444.6(PHEX):c.613del (p.Arg205fs)
|
rs1929214770
|
|
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.620_623del (p.Tyr207fs)
|
rs1929215753
|
|
NM_000444.6(PHEX):c.643dup (p.Ser215fs)
|
rs2147020850
|
|
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)
|
rs1929219058
|
|
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+2T>A
|
rs1057518348
|
|
NM_000444.6(PHEX):c.663+2T>C
|
rs1057518348
|
|
NM_000444.6(PHEX):c.664-1G>A
|
rs886041529
|
|
NM_000444.6(PHEX):c.664-2A>G
|
|
|
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter)
|
rs948246694
|
|
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.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.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.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.755T>C (p.Phe252Ser)
|
rs267606945
|
|
NM_000444.6(PHEX):c.766_767dup (p.Ala257fs)
|
rs1930020467
|
|
NM_000444.6(PHEX):c.766dup (p.Thr256fs)
|
|
|
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.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.83del (p.Gly28fs)
|
rs1926873715
|
|
NM_000444.6(PHEX):c.847_849+2del
|
rs886041681
|
|
NM_000444.6(PHEX):c.849+1G>A
|
rs1057521144
|
|
NM_000444.6(PHEX):c.849+1G>T
|
rs1057521144
|
|
NM_000444.6(PHEX):c.850-2A>G
|
rs1064793226
|
|
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.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.907del (p.Ser303fs)
|
rs2147043710
|
|
NM_000444.6(PHEX):c.909_912dup (p.Leu305Ter)
|
|
|
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.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.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.956dup (p.Lys320fs)
|
rs1930293543
|
|
NM_000444.6(PHEX):c.961_968dup (p.Asp323fs)
|
|
|
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.981C>A (p.Tyr327Ter)
|
rs1930295914
|
|
NM_000444.6(PHEX):c.981C>G (p.Tyr327Ter)
|
rs1930295914
|
|
NM_000444.6(PHEX):c.985dup (p.His329fs)
|
rs1556025994
|
|
NM_000444.6(PHEX):c.994del (p.Asp332fs)
|
rs2147047261
|
|
Single allele
|
|
|