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.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.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
NM_000444.6(PHEX):c.1482+16A>C
|
rs376298942
|
0.00034
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
|
NM_000444.6(PHEX):c.505G>A (p.Val169Met)
|
rs187824835
|
0.00009
|
NM_000444.6(PHEX):c.118+7G>T
|
rs534550003
|
0.00006
|
NM_000444.6(PHEX):c.1461T>C (p.His487=)
|
rs765101791
|
0.00005
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
0.00003
|
NM_000444.6(PHEX):c.1328G>A (p.Arg443His)
|
rs1285918997
|
0.00001
|
NM_000444.6(PHEX):c.1515C>T (p.Asn505=)
|
rs764771688
|
0.00001
|
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0
|
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.1046dup (p.Asp349fs)
|
rs1057517792
|
|
NM_000444.6(PHEX):c.1079+1G>A
|
rs886039583
|
|
NM_000444.6(PHEX):c.1080-1G>A
|
rs886041695
|
|
NM_000444.6(PHEX):c.1080-2A>G
|
rs886041358
|
|
NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter)
|
rs1064796942
|
|
NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter)
|
rs886041357
|
|
NM_000444.6(PHEX):c.1173+1G>C
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1173+2T>C
|
rs1057517896
|
|
NM_000444.6(PHEX):c.1174-2A>G
|
rs1064796927
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.118+286del
|
rs3216804
|
|
NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter)
|
rs1057517793
|
|
NM_000444.6(PHEX):c.1202del (p.Pro401fs)
|
rs1064793847
|
|
NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter)
|
rs886039745
|
|
NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter)
|
rs886039584
|
|
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter)
|
rs1416252114
|
|
NM_000444.6(PHEX):c.1241del (p.Leu414fs)
|
rs886041446
|
|
NM_000444.6(PHEX):c.1268T>C (p.Val423Ala)
|
|
|
NM_000444.6(PHEX):c.1302+1G>T
|
rs1131691841
|
|
NM_000444.6(PHEX):c.1309dup (p.Glu437fs)
|
rs886041588
|
|
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)
|
rs1057517904
|
|
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)
|
rs777167473
|
|
NM_000444.6(PHEX):c.134T>A (p.Leu45Ter)
|
rs886039661
|
|
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter)
|
rs886039585
|
|
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>C (p.Trp456Cys)
|
rs886043680
|
|
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys)
|
rs374873766
|
|
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter)
|
rs886041360
|
|
NM_000444.6(PHEX):c.1482+1G>A
|
rs1064793228
|
|
NM_000444.6(PHEX):c.1483-1G>A
|
rs1057517794
|
|
NM_000444.6(PHEX):c.1483-312=
|
rs5951715
|
|
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)
|
rs1064794303
|
|
NM_000444.6(PHEX):c.1525del (p.Thr509fs)
|
rs1064793461
|
|
NM_000444.6(PHEX):c.152_162del (p.Gln51fs)
|
rs1064793526
|
|
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)
|
rs886041361
|
|
NM_000444.6(PHEX):c.154G>T (p.Glu52Ter)
|
rs886041626
|
|
NM_000444.6(PHEX):c.1586+1G>T
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+2T>A
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+6T>G
|
rs1057518214
|
|
NM_000444.6(PHEX):c.1586_1586+1del
|
rs886041362
|
|
NM_000444.6(PHEX):c.1587-1G>A
|
rs886041839
|
|
NM_000444.6(PHEX):c.1593dup (p.Thr532fs)
|
rs1556091873
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1645+187dup
|
rs202159277
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1645+212A>G
|
rs16981831
|
|
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.221_222del (p.Val74fs)
|
rs886039580
|
|
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp)
|
rs1556014284
|
|
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter)
|
rs1085307642
|
|
NM_000444.6(PHEX):c.332_334del (p.Val111del)
|
rs1064795949
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
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.419C>G (p.Ser140Ter)
|
rs140678356
|
|
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser)
|
rs1064797048
|
|
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter)
|
rs1057517787
|
|
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+4A>G
|
rs1057520344
|
|
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter)
|
rs886042025
|
|
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg)
|
rs1064796435
|
|
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter)
|
rs1057517789
|
|
NM_000444.6(PHEX):c.503C>T (p.Pro168Leu)
|
rs1057517790
|
|
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.538del (p.Trp180fs)
|
rs886039581
|
|
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter)
|
rs1057521143
|
|
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)
|
rs770573978
|
|
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn)
|
rs1085307950
|
|
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.64_65delinsTT (p.Ala22Phe)
|
rs2146974307
|
|
NM_000444.6(PHEX):c.663+1G>A
|
rs1556020845
|
|
NM_000444.6(PHEX):c.663+1_663+45del
|
rs1064796303
|
|
NM_000444.6(PHEX):c.663+2T>A
|
rs1057518348
|
|
NM_000444.6(PHEX):c.664-1G>A
|
rs886041529
|
|
NM_000444.6(PHEX):c.664-2A>C
|
rs1131692026
|
|
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter)
|
rs948246694
|
|
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)
|
rs1064793956
|
|
NM_000444.6(PHEX):c.682dup (p.Ser228fs)
|
rs1131691812
|
|
NM_000444.6(PHEX):c.733-1G>A
|
rs886041223
|
|
NM_000444.6(PHEX):c.733-2A>T
|
rs886041496
|
|
NM_000444.6(PHEX):c.758TGG[1] (p.Val254del)
|
rs1064796391
|
|
NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer)
|
rs886041569
|
|
NM_000444.6(PHEX):c.779dup (p.Leu260fs)
|
rs886041569
|
|
NM_000444.6(PHEX):c.847_849+2del
|
rs886041681
|
|
NM_000444.6(PHEX):c.849+1G>A
|
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.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000444.6(PHEX):c.883del (p.Ala295fs)
|
rs1057517791
|
|
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg)
|
rs1064796929
|
|
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter)
|
rs886041853
|
|
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
|
NM_000444.6(PHEX):c.985dup (p.His329fs)
|
rs1556025994
|
|