NM_000379.4(XDH):c.3030T>C (p.Phe1010=)
|
rs1884725
|
0.77423
|
NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
NM_000379.4(XDH):c.3052-12C>G
|
rs13415401
|
0.74590
|
NM_000379.4(XDH):c.2211C>T (p.Ile737=)
|
rs2295475
|
0.24290
|
NM_000379.4(XDH):c.2107A>G (p.Ile703Val)
|
rs17011368
|
0.05740
|
NM_000379.4(XDH):c.3717G>A (p.Glu1239=)
|
rs207440
|
0.05236
|
NM_000379.4(XDH):c.627G>A (p.Glu209=)
|
rs45575032
|
0.02778
|
NM_000379.4(XDH):c.837C>T (p.Val279=)
|
rs4407290
|
0.02692
|
NM_000379.4(XDH):c.514G>A (p.Gly172Arg)
|
rs45523133
|
0.02328
|
NM_000379.4(XDH):c.1936A>G (p.Ile646Val)
|
rs17323225
|
0.02243
|
NM_000379.4(XDH):c.1686+8C>T
|
rs17395224
|
0.02225
|
NM_000379.4(XDH):c.1184A>T (p.Lys395Met)
|
rs34929837
|
0.02155
|
NM_000379.4(XDH):c.1134C>T (p.Gly378=)
|
rs45612738
|
0.02057
|
NM_000379.4(XDH):c.3084C>T (p.Gly1028=)
|
rs45604135
|
0.01858
|
NM_000379.4(XDH):c.1509C>G (p.Gly503=)
|
rs45612839
|
0.01566
|
NM_000379.4(XDH):c.1329G>A (p.Lys443=)
|
rs45471294
|
0.01418
|
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp)
|
rs45564939
|
0.01229
|
NM_000379.4(XDH):c.3375A>G (p.Thr1125=)
|
rs45592238
|
0.00556
|
NM_000379.4(XDH):c.1857-4G>A
|
rs17395175
|
0.00541
|
NM_000379.4(XDH):c.3405-15T>C
|
rs141728694
|
0.00516
|
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala)
|
rs45491693
|
0.00492
|
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu)
|
rs141335716
|
0.00485
|
NM_000379.4(XDH):c.3951+14C>G
|
rs201055814
|
0.00484
|
NM_000379.4(XDH):c.397G>A (p.Glu133Lys)
|
rs45447191
|
0.00362
|
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu)
|
rs45619033
|
0.00328
|
NM_000379.4(XDH):c.405C>T (p.Thr135=)
|
rs72549370
|
0.00299
|
NM_000379.4(XDH):c.495+15C>T
|
rs183572308
|
0.00280
|
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln)
|
rs45442092
|
0.00254
|
NM_000379.4(XDH):c.1629C>T (p.Phe543=)
|
rs140651875
|
0.00250
|
NM_000379.4(XDH):c.1856+7G>A
|
rs184028774
|
0.00228
|
NM_000379.4(XDH):c.2634T>C (p.Ile878=)
|
rs146994573
|
0.00224
|
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)
|
rs139515054
|
0.00222
|
NM_000379.4(XDH):c.2729C>T (p.Thr910Met)
|
rs669884
|
0.00200
|
NM_000379.4(XDH):c.882C>T (p.Pro294=)
|
rs138246330
|
0.00195
|
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg)
|
rs73922346
|
0.00193
|
NM_000379.4(XDH):c.1427+15C>A
|
rs116569100
|
0.00186
|
NM_000379.4(XDH):c.1726C>T (p.Arg576Trp)
|
rs139772558
|
0.00170
|
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile)
|
rs45448694
|
0.00137
|
NM_000379.4(XDH):c.1774G>A (p.Val592Met)
|
rs141314828
|
0.00131
|
NM_000379.4(XDH):c.2037A>C (p.Thr679=)
|
rs139998082
|
0.00129
|
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys)
|
rs138649664
|
0.00113
|
NM_000379.4(XDH):c.822G>A (p.Leu274=)
|
rs113345553
|
0.00108
|
NM_000379.4(XDH):c.636T>C (p.Phe212=)
|
rs140225517
|
0.00095
|
NM_000379.4(XDH):c.2362A>T (p.Ile788Phe)
|
rs141050887
|
0.00083
|
NM_000379.4(XDH):c.3647C>A (p.Pro1216His)
|
rs143981573
|
0.00078
|
NM_000379.4(XDH):c.101-7C>T
|
rs113007282
|
0.00069
|
NM_000379.4(XDH):c.883G>A (p.Asp295Asn)
|
rs142335345
|
0.00068
|
NM_000379.4(XDH):c.3018T>C (p.Phe1006=)
|
rs144883930
|
0.00067
|
NM_000379.4(XDH):c.825T>C (p.Phe275=)
|
rs145596057
|
0.00066
|
NM_000379.4(XDH):c.3864T>C (p.Gly1288=)
|
rs148477626
|
0.00064
|
NM_000379.4(XDH):c.671G>A (p.Arg224Gln)
|
rs112466737
|
0.00063
|
NM_000379.4(XDH):c.3052-4C>T
|
rs370085305
|
0.00061
|
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr)
|
rs45547640
|
0.00060
|
NM_000379.4(XDH):c.1911C>T (p.Ser637=)
|
rs142197675
|
0.00058
|
NM_000379.4(XDH):c.1686+1G>C
|
rs148412639
|
0.00057
|
NM_000379.4(XDH):c.1357G>A (p.Ala453Thr)
|
rs185036611
|
0.00055
|
NM_000379.4(XDH):c.2851G>A (p.Gly951Arg)
|
rs142675390
|
0.00053
|
NM_000379.4(XDH):c.859C>G (p.Leu287Val)
|
rs138674014
|
0.00052
|
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys)
|
rs142329784
|
0.00045
|
NM_000379.4(XDH):c.3871G>A (p.Val1291Met)
|
rs191740294
|
0.00045
|
NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln)
|
rs139691722
|
0.00045
|
NM_000379.4(XDH):c.2441C>T (p.Ala814Val)
|
rs148585342
|
0.00044
|
NM_000379.4(XDH):c.793+19G>A
|
rs45625137
|
0.00043
|
NM_000379.4(XDH):c.2452T>C (p.Tyr818His)
|
rs139272198
|
0.00041
|
NM_000379.4(XDH):c.3930C>T (p.Cys1310=)
|
rs138936101
|
0.00041
|
NM_000379.4(XDH):c.463C>A (p.Pro155Thr)
|
rs145413551
|
0.00041
|
NM_000379.4(XDH):c.670C>T (p.Arg224Trp)
|
rs147533056
|
0.00040
|
NM_000379.4(XDH):c.3774+15G>A
|
rs202125003
|
0.00038
|
NM_000379.4(XDH):c.2360G>A (p.Arg787Gln)
|
rs149717617
|
0.00030
|
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile)
|
rs148235835
|
0.00029
|
NM_000379.4(XDH):c.3771G>A (p.Ser1257=)
|
rs45594136
|
0.00028
|
NM_000379.4(XDH):c.1669G>A (p.Asp557Asn)
|
rs201792967
|
0.00026
|
NM_000379.4(XDH):c.704C>T (p.Thr235Met)
|
rs45469499
|
0.00026
|
NM_000379.4(XDH):c.1773C>T (p.Ala591=)
|
rs145108969
|
0.00023
|
NM_000379.4(XDH):c.1037C>T (p.Ala346Val)
|
rs142388231
|
0.00022
|
NM_000379.4(XDH):c.2460C>T (p.Thr820=)
|
rs143539472
|
0.00022
|
NM_000379.4(XDH):c.2437G>C (p.Val813Leu)
|
rs142951412
|
0.00021
|
NM_000379.4(XDH):c.3737G>A (p.Arg1246His)
|
rs140606023
|
0.00020
|
NM_000379.4(XDH):c.3920G>A (p.Arg1307His)
|
rs138249576
|
0.00020
|
NM_000379.4(XDH):c.1819C>T (p.Arg607Trp)
|
rs201464771
|
0.00019
|
NM_000379.4(XDH):c.617C>T (p.Pro206Leu)
|
rs201332711
|
0.00019
|
NM_000379.4(XDH):c.2794G>A (p.Ala932Thr)
|
rs141291583
|
0.00018
|
NM_000379.4(XDH):c.977T>G (p.Val326Gly)
|
rs761592093
|
0.00017
|
NM_000379.4(XDH):c.1602C>T (p.Asp534=)
|
rs61731080
|
0.00016
|
NM_000379.4(XDH):c.2969+8C>T
|
rs374442016
|
0.00016
|
NM_000379.4(XDH):c.349A>T (p.Thr117Ser)
|
rs556797607
|
0.00016
|
NM_000379.4(XDH):c.1210C>A (p.Leu404Met)
|
rs372033714
|
0.00014
|
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys)
|
rs147476468
|
0.00014
|
NM_000379.4(XDH):c.1749G>A (p.Ala583=)
|
rs141831710
|
0.00014
|
NM_000379.4(XDH):c.959C>G (p.Pro320Arg)
|
rs200384255
|
0.00014
|
NM_000379.4(XDH):c.1617G>T (p.Leu539=)
|
rs117399514
|
0.00013
|
NM_000379.4(XDH):c.1785C>T (p.Asp595=)
|
rs140066757
|
0.00013
|
NM_000379.4(XDH):c.1896T>G (p.Phe632Leu)
|
rs149593992
|
0.00013
|
NM_000379.4(XDH):c.2102A>T (p.Asp701Val)
|
rs527413763
|
0.00013
|
NM_000379.4(XDH):c.1912G>A (p.Ala638Thr)
|
rs202112369
|
0.00012
|
NM_000379.4(XDH):c.3249C>T (p.Ser1083=)
|
rs45562835
|
0.00012
|
NM_000379.4(XDH):c.1243-7C>G
|
rs200362582
|
0.00011
|
NM_000379.4(XDH):c.1800C>T (p.Tyr600=)
|
rs139964785
|
0.00011
|
NM_000379.4(XDH):c.3133A>G (p.Thr1045Ala)
|
rs142402298
|
0.00011
|
NM_000379.4(XDH):c.3789G>A (p.Pro1263=)
|
rs202077714
|
0.00011
|
NM_000379.4(XDH):c.1132+11T>C
|
rs372322137
|
0.00010
|
NM_000379.4(XDH):c.327C>T (p.His109=)
|
rs370058590
|
0.00010
|
NM_000379.4(XDH):c.328G>A (p.Gly110Ser)
|
rs147286954
|
0.00010
|
NM_000379.4(XDH):c.1042G>A (p.Val348Ile)
|
rs192453952
|
0.00009
|
NM_000379.4(XDH):c.2359C>T (p.Arg787Trp)
|
rs148904866
|
0.00009
|
NM_000379.4(XDH):c.2631+20G>A
|
rs370658508
|
0.00009
|
NM_000379.4(XDH):c.429C>G (p.Phe143Leu)
|
rs780614997
|
0.00009
|
NM_000379.4(XDH):c.482G>A (p.Arg161Gln)
|
rs200810102
|
0.00009
|
NM_000379.4(XDH):c.2413C>T (p.Arg805Trp)
|
rs140007233
|
0.00008
|
NM_000379.4(XDH):c.2014G>C (p.Val672Leu)
|
rs756013401
|
0.00007
|
NM_000379.4(XDH):c.3148-17G>A
|
rs368920281
|
0.00007
|
NM_000379.4(XDH):c.417T>G (p.Ile139Met)
|
rs747715632
|
0.00007
|
NM_000379.4(XDH):c.1796G>A (p.Arg599His)
|
rs200795066
|
0.00006
|
NM_000379.4(XDH):c.33T>G (p.Asn11Lys)
|
rs201779309
|
0.00006
|
NM_000379.4(XDH):c.446G>A (p.Arg149His)
|
rs148108999
|
0.00006
|
NM_000379.4(XDH):c.1602+1G>A
|
rs376882470
|
0.00005
|
NM_000379.4(XDH):c.1990G>A (p.Val664Ile)
|
rs201301387
|
0.00005
|
NM_000379.4(XDH):c.2013G>A (p.Val671=)
|
rs200635805
|
0.00005
|
NM_000379.4(XDH):c.2956G>A (p.Asp986Asn)
|
rs367710339
|
0.00005
|
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys)
|
rs202023189
|
0.00005
|
NM_000379.4(XDH):c.1038+7C>T
|
rs373596387
|
0.00004
|
NM_000379.4(XDH):c.1276C>T (p.Arg426Trp)
|
rs749209037
|
0.00004
|
NM_000379.4(XDH):c.1476G>A (p.Glu492=)
|
rs763906993
|
0.00004
|
NM_000379.4(XDH):c.1647G>T (p.Leu549=)
|
rs776000927
|
0.00004
|
NM_000379.4(XDH):c.182T>C (p.Leu61Pro)
|
rs765864735
|
0.00004
|
NM_000379.4(XDH):c.1970C>T (p.Ala657Val)
|
rs143481133
|
0.00004
|
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter)
|
rs72549367
|
0.00004
|
NM_000379.4(XDH):c.2773G>A (p.Glu925Lys)
|
rs755782316
|
0.00004
|
NM_000379.4(XDH):c.3195C>T (p.Ser1065=)
|
rs200293437
|
0.00004
|
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser)
|
rs370788512
|
0.00004
|
NM_000379.4(XDH):c.361G>A (p.Val121Ile)
|
rs751332444
|
0.00004
|
NM_000379.4(XDH):c.867G>A (p.Ser289=)
|
rs749391188
|
0.00004
|
NM_000379.4(XDH):c.886+5G>A
|
rs757314976
|
0.00004
|
NM_000379.4(XDH):c.1319T>A (p.Val440Asp)
|
rs750893035
|
0.00003
|
NM_000379.4(XDH):c.167C>G (p.Ser56Cys)
|
rs754593222
|
0.00003
|
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr)
|
rs767059856
|
0.00003
|
NM_000379.4(XDH):c.2269G>A (p.Glu757Lys)
|
rs370126462
|
0.00003
|
NM_000379.4(XDH):c.287C>T (p.Thr96Met)
|
rs374226297
|
0.00003
|
NM_000379.4(XDH):c.3263G>A (p.Gly1088Glu)
|
rs201855759
|
0.00003
|
NM_000379.4(XDH):c.3738C>T (p.Arg1246=)
|
rs151338723
|
0.00003
|
NM_000379.4(XDH):c.485C>A (p.Thr162Asn)
|
rs766718491
|
0.00003
|
NM_000379.4(XDH):c.606G>A (p.Thr202=)
|
rs752308380
|
0.00003
|
NM_000379.4(XDH):c.698G>T (p.Arg233Leu)
|
rs201194179
|
0.00003
|
NM_000379.4(XDH):c.816T>C (p.Asn272=)
|
rs770338067
|
0.00003
|
NM_000379.4(XDH):c.1119A>C (p.Thr373=)
|
rs771331558
|
0.00002
|
NM_000379.4(XDH):c.1458G>A (p.Val486=)
|
rs377080200
|
0.00002
|
NM_000379.4(XDH):c.1522C>T (p.Arg508Trp)
|
rs778513905
|
0.00002
|
NM_000379.4(XDH):c.1795C>T (p.Arg599Cys)
|
rs558003041
|
0.00002
|
NM_000379.4(XDH):c.1806T>A (p.Asn602Lys)
|
rs768959436
|
0.00002
|
NM_000379.4(XDH):c.2027C>T (p.Pro676Leu)
|
rs751442650
|
0.00002
|
NM_000379.4(XDH):c.2126A>G (p.Tyr709Cys)
|
rs146345594
|
0.00002
|
NM_000379.4(XDH):c.2197+18C>T
|
rs756126817
|
0.00002
|
NM_000379.4(XDH):c.2198-5C>T
|
rs1310965576
|
0.00002
|
NM_000379.4(XDH):c.2686C>T (p.Arg896Trp)
|
rs765576781
|
0.00002
|
NM_000379.4(XDH):c.3163C>G (p.Leu1055Val)
|
rs756000543
|
0.00002
|
NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys)
|
rs769346803
|
0.00002
|
NM_000379.4(XDH):c.336G>A (p.Gln112=)
|
rs747410096
|
0.00002
|
NM_000379.4(XDH):c.3581G>T (p.Gly1194Val)
|
rs1388492434
|
0.00002
|
NM_000379.4(XDH):c.3692C>T (p.Pro1231Leu)
|
rs746081258
|
0.00002
|
NM_000379.4(XDH):c.3838C>T (p.Arg1280Cys)
|
rs768083545
|
0.00002
|
NM_000379.4(XDH):c.385C>T (p.Arg129Trp)
|
rs145064943
|
0.00002
|
NM_000379.4(XDH):c.545A>G (p.Asn182Ser)
|
rs770109772
|
0.00002
|
NM_000379.4(XDH):c.600G>A (p.Glu200=)
|
rs779192880
|
0.00002
|
NM_000379.4(XDH):c.786G>A (p.Thr262=)
|
rs201436175
|
0.00002
|
NM_000379.4(XDH):c.1103G>T (p.Ser368Ile)
|
rs776912338
|
0.00001
|
NM_000379.4(XDH):c.1282G>A (p.Glu428Lys)
|
rs1050893739
|
0.00001
|
NM_000379.4(XDH):c.1456G>A (p.Val486Met)
|
rs750077909
|
0.00001
|
NM_000379.4(XDH):c.1575G>C (p.Gln525His)
|
rs1483259175
|
0.00001
|
NM_000379.4(XDH):c.1581G>A (p.Leu527=)
|
rs138859065
|
0.00001
|
NM_000379.4(XDH):c.1686+19T>C
|
rs1377777880
|
0.00001
|
NM_000379.4(XDH):c.1737C>G (p.Pro579=)
|
rs376148012
|
0.00001
|
NM_000379.4(XDH):c.2074G>A (p.Glu692Lys)
|
rs772739492
|
0.00001
|
NM_000379.4(XDH):c.2146G>A (p.Glu716Lys)
|
rs267599347
|
0.00001
|
NM_000379.4(XDH):c.225C>G (p.Ala75=)
|
rs368792036
|
0.00001
|
NM_000379.4(XDH):c.2274del (p.Glu760fs)
|
rs760186813
|
0.00001
|
NM_000379.4(XDH):c.2281A>G (p.Met761Val)
|
rs762730020
|
0.00001
|
NM_000379.4(XDH):c.2433G>A (p.Thr811=)
|
rs757886455
|
0.00001
|
NM_000379.4(XDH):c.2484G>A (p.Leu828=)
|
rs1312917059
|
0.00001
|
NM_000379.4(XDH):c.2493T>C (p.Asp831=)
|
rs200505239
|
0.00001
|
NM_000379.4(XDH):c.2544+10G>A
|
rs369796722
|
0.00001
|
NM_000379.4(XDH):c.2603T>G (p.Val868Gly)
|
rs1296028517
|
0.00001
|
NM_000379.4(XDH):c.2728A>G (p.Thr910Ala)
|
rs1426236024
|
0.00001
|
NM_000379.4(XDH):c.2804G>C (p.Cys935Ser)
|
rs762800111
|
0.00001
|
NM_000379.4(XDH):c.2823+3A>G
|
rs776815171
|
0.00001
|
NM_000379.4(XDH):c.2858T>G (p.Leu953Arg)
|
rs137975977
|
0.00001
|
NM_000379.4(XDH):c.2873A>G (p.Gln958Arg)
|
rs753754469
|
0.00001
|
NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly)
|
rs777296789
|
0.00001
|
NM_000379.4(XDH):c.3276+6G>A
|
rs200684126
|
0.00001
|
NM_000379.4(XDH):c.340G>A (p.Gly114Arg)
|
rs770700444
|
0.00001
|
NM_000379.4(XDH):c.3432G>T (p.Glu1144Asp)
|
rs200349996
|
0.00001
|
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala)
|
rs142988357
|
0.00001
|
NM_000379.4(XDH):c.3519+13C>G
|
rs923415065
|
0.00001
|
NM_000379.4(XDH):c.3586-9A>G
|
rs374510232
|
0.00001
|
NM_000379.4(XDH):c.3638A>G (p.His1213Arg)
|
rs368774203
|
0.00001
|
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter)
|
rs751921838
|
0.00001
|
NM_000379.4(XDH):c.3948C>T (p.Thr1316=)
|
rs1169348675
|
0.00001
|
NM_000379.4(XDH):c.3994A>G (p.Arg1332Gly)
|
rs780939136
|
0.00001
|
NM_000379.4(XDH):c.534T>C (p.Asn178=)
|
rs762679791
|
0.00001
|
NM_000379.4(XDH):c.565-17G>A
|
rs1207902172
|
0.00001
|
NM_000379.4(XDH):c.635T>C (p.Phe212Ser)
|
rs1351096563
|
0.00001
|
NM_000379.4(XDH):c.651+1G>A
|
rs764196019
|
0.00001
|
NM_000379.4(XDH):c.682C>T (p.Arg228Ter)
|
rs119460972
|
0.00001
|
NM_000379.4(XDH):c.724C>G (p.Leu242Val)
|
rs773771252
|
0.00001
|
NM_000379.4(XDH):c.826C>T (p.Pro276Ser)
|
rs1442917442
|
0.00001
|
NM_000379.4(XDH):c.887-17C>T
|
rs372070057
|
0.00001
|
NM_000379.4(XDH):c.887-1G>A
|
rs1383065231
|
0.00001
|
NM_000379.4(XDH):c.98A>G (p.Lys33Arg)
|
rs146551089
|
0.00001
|
NC_000002.11:g.(?_31558824)_(31637532_?)del
|
|
|
NC_000002.11:g.(?_31558824)_(31637532_?)dup
|
|
|
NC_000002.11:g.(?_31587004)_(31587130_?)del
|
|
|
NC_000002.11:g.(?_31588418)_(31589011_?)del
|
|
|
NC_000002.12:g.(?_31375360)_(31414686_?)dup
|
|
|
NM_000379.4(XDH):c.100+15G>C
|
|
|
NM_000379.4(XDH):c.100+3A>G
|
|
|
NM_000379.4(XDH):c.1004G>A (p.Arg335His)
|
|
|
NM_000379.4(XDH):c.101-8C>T
|
|
|
NM_000379.4(XDH):c.1020G>A (p.Lys340=)
|
|
|
NM_000379.4(XDH):c.1038+13C>G
|
|
|
NM_000379.4(XDH):c.1038G>A (p.Ala346=)
|
rs557992688
|
|
NM_000379.4(XDH):c.1050G>C (p.Gly350=)
|
rs772619207
|
|
NM_000379.4(XDH):c.1077C>T (p.Ser359=)
|
|
|
NM_000379.4(XDH):c.1089C>T (p.Pro363=)
|
rs267599349
|
|
NM_000379.4(XDH):c.1104T>C (p.Ser368=)
|
|
|
NM_000379.4(XDH):c.1108G>A (p.Ala370Thr)
|
|
|
NM_000379.4(XDH):c.1208T>C (p.Ile403Thr)
|
|
|
NM_000379.4(XDH):c.1212G>A (p.Leu404=)
|
|
|
NM_000379.4(XDH):c.1299G>T (p.Lys433Asn)
|
|
|
NM_000379.4(XDH):c.1316G>C (p.Arg439Thr)
|
|
|
NM_000379.4(XDH):c.1323A>G (p.Leu441=)
|
|
|
NM_000379.4(XDH):c.1327A>C (p.Lys443Gln)
|
|
|
NM_000379.4(XDH):c.1343_1350del (p.Glu448fs)
|
rs2148776171
|
|
NM_000379.4(XDH):c.134del (p.Glu45fs)
|
|
|
NM_000379.4(XDH):c.135G>A (p.Glu45=)
|
|
|
NM_000379.4(XDH):c.135G>C (p.Glu45Asp)
|
rs150847028
|
|
NM_000379.4(XDH):c.1406C>T (p.Thr469Ile)
|
|
|
NM_000379.4(XDH):c.140dup (p.Cys48fs)
|
rs773456900
|
|
NM_000379.4(XDH):c.1425C>A (p.Ser475=)
|
|
|
NM_000379.4(XDH):c.1427+18A>G
|
|
|
NM_000379.4(XDH):c.1428-16C>A
|
rs778406731
|
|
NM_000379.4(XDH):c.1428-18C>T
|
|
|
NM_000379.4(XDH):c.144C>T (p.Cys48=)
|
|
|
NM_000379.4(XDH):c.1455C>T (p.Asp485=)
|
|
|
NM_000379.4(XDH):c.1480C>A (p.Leu494Met)
|
rs767352182
|
|
NM_000379.4(XDH):c.1494C>T (p.Pro498=)
|
|
|
NM_000379.4(XDH):c.150_155del (p.Cys51_Thr52del)
|
|
|
NM_000379.4(XDH):c.1510A>G (p.Met504Val)
|
rs2148774872
|
|
NM_000379.4(XDH):c.1523G>C (p.Arg508Pro)
|
|
|
NM_000379.4(XDH):c.1528A>G (p.Thr510Ala)
|
|
|
NM_000379.4(XDH):c.156A>G (p.Thr52=)
|
|
|
NM_000379.4(XDH):c.157G>C (p.Val53Leu)
|
|
|
NM_000379.4(XDH):c.1590G>T (p.Glu530Asp)
|
|
|
NM_000379.4(XDH):c.1661C>T (p.Pro554Leu)
|
|
|
NM_000379.4(XDH):c.1662C>T (p.Pro554=)
|
|
|
NM_000379.4(XDH):c.1663C>A (p.Pro555Thr)
|
rs45577338
|
|
NM_000379.4(XDH):c.1663C>T (p.Pro555Ser)
|
rs45577338
|
|
NM_000379.4(XDH):c.1664dup (p.Ala556fs)
|
|
|
NM_000379.4(XDH):c.1683C>T (p.Phe561=)
|
|
|
NM_000379.4(XDH):c.1686+15T>C
|
|
|
NM_000379.4(XDH):c.1686+4A>T
|
|
|
NM_000379.4(XDH):c.1735C>T (p.Pro579Ser)
|
|
|
NM_000379.4(XDH):c.173A>G (p.Tyr58Cys)
|
|
|
NM_000379.4(XDH):c.1856+13G>A
|
|
|
NM_000379.4(XDH):c.1856+5G>C
|
|
|
NM_000379.4(XDH):c.1885G>A (p.Val629Ile)
|
rs148464316
|
|
NM_000379.4(XDH):c.1885G>T (p.Val629Phe)
|
rs148464316
|
|
NM_000379.4(XDH):c.1929G>A (p.Gly643=)
|
rs375460228
|
|
NM_000379.4(XDH):c.1929G>T (p.Gly643=)
|
rs375460228
|
|
NM_000379.4(XDH):c.1949G>C (p.Cys650Ser)
|
|
|
NM_000379.4(XDH):c.197+6del
|
|
|
NM_000379.4(XDH):c.198-4C>T
|
|
|
NM_000379.4(XDH):c.1980+19del
|
|
|
NM_000379.4(XDH):c.1981-10C>T
|
|
|
NM_000379.4(XDH):c.2031A>T (p.Glu677Asp)
|
|
|
NM_000379.4(XDH):c.2100+19_2100+22del
|
rs45446491
|
|
NM_000379.4(XDH):c.2100+20C>A
|
|
|
NM_000379.4(XDH):c.2145C>T (p.Ile715=)
|
rs267599348
|
|
NM_000379.4(XDH):c.2163G>A (p.Lys721=)
|
|
|
NM_000379.4(XDH):c.2173T>G (p.Ser725Ala)
|
|
|
NM_000379.4(XDH):c.2187TGT[1] (p.Val731del)
|
rs760761330
|
|
NM_000379.4(XDH):c.2197+17_2197+26del
|
|
|
NM_000379.4(XDH):c.21T>C (p.Val7=)
|
|
|
NM_000379.4(XDH):c.2209A>G (p.Ile737Val)
|
rs1685931438
|
|
NM_000379.4(XDH):c.2246G>A (p.Cys749Tyr)
|
|
|
NM_000379.4(XDH):c.2267G>A (p.Gly756Asp)
|
|
|
NM_000379.4(XDH):c.2322+6T>G
|
|
|
NM_000379.4(XDH):c.2323-9C>T
|
|
|
NM_000379.4(XDH):c.2368G>T (p.Val790Phe)
|
|
|
NM_000379.4(XDH):c.2456+3G>A
|
|
|
NM_000379.4(XDH):c.2457-12G>A
|
|
|
NM_000379.4(XDH):c.2457-2A>G
|
|
|
NM_000379.4(XDH):c.2457-9A>G
|
|
|
NM_000379.4(XDH):c.2464C>T (p.Arg822Cys)
|
|
|
NM_000379.4(XDH):c.2465G>A (p.Arg822His)
|
|
|
NM_000379.4(XDH):c.2473C>T (p.Arg825Ter)
|
|
|
NM_000379.4(XDH):c.2540A>G (p.Tyr847Cys)
|
rs1311232806
|
|
NM_000379.4(XDH):c.2544+19G>A
|
|
|
NM_000379.4(XDH):c.2545-20C>T
|
|
|
NM_000379.4(XDH):c.2545-5A>G
|
|
|
NM_000379.4(XDH):c.2564G>A (p.Gly855Glu)
|
|
|
NM_000379.4(XDH):c.2582A>G (p.Glu861Gly)
|
|
|
NM_000379.4(XDH):c.2592C>T (p.His864=)
|
rs368056609
|
|
NM_000379.4(XDH):c.2620C>T (p.Leu874Phe)
|
|
|
NM_000379.4(XDH):c.2631+19C>T
|
|
|
NM_000379.4(XDH):c.2631+8G>A
|
|
|
NM_000379.4(XDH):c.2632-11C>G
|
|
|
NM_000379.4(XDH):c.2639A>T (p.Glu880Val)
|
|
|
NM_000379.4(XDH):c.2642G>A (p.Arg881Gln)
|
|
|
NM_000379.4(XDH):c.2654A>G (p.His885Arg)
|
|
|
NM_000379.4(XDH):c.2666G>C (p.Cys889Ser)
|
|
|
NM_000379.4(XDH):c.2676C>G (p.Ile892Met)
|
rs200911206
|
|
NM_000379.4(XDH):c.2685C>T (p.Ile895=)
|
|
|
NM_000379.4(XDH):c.2703G>A (p.Leu901=)
|
rs2148756811
|
|
NM_000379.4(XDH):c.2706C>T (p.Cys902=)
|
rs955933583
|
|
NM_000379.4(XDH):c.2730G>A (p.Thr910=)
|
rs376072451
|
|
NM_000379.4(XDH):c.2737C>T (p.Arg913Trp)
|
|
|
NM_000379.4(XDH):c.2751G>A (p.Gly917=)
|
rs369230654
|
|
NM_000379.4(XDH):c.2751dup (p.Pro918fs)
|
|
|
NM_000379.4(XDH):c.2772C>T (p.Ala924=)
|
|
|
NM_000379.4(XDH):c.278G>A (p.Ser93Asn)
|
rs2148006233
|
|
NM_000379.4(XDH):c.2827C>T (p.Arg943Trp)
|
|
|
NM_000379.4(XDH):c.2832A>G (p.Arg944=)
|
rs776261460
|
|
NM_000379.4(XDH):c.2853G>A (p.Gly951=)
|
|
|
NM_000379.4(XDH):c.2895G>T (p.Leu965Phe)
|
|
|
NM_000379.4(XDH):c.2915_2916delinsTT (p.Cys972Phe)
|
rs2148756357
|
|
NM_000379.4(XDH):c.2916C>T (p.Cys972=)
|
|
|
NM_000379.4(XDH):c.2919A>G (p.Leu973=)
|
|
|
NM_000379.4(XDH):c.291G>T (p.Arg97Ser)
|
|
|
NM_000379.4(XDH):c.292C>T (p.Leu98=)
|
|
|
NM_000379.4(XDH):c.2941C>T (p.Arg981Trp)
|
|
|
NM_000379.4(XDH):c.2942G>T (p.Arg981Leu)
|
|
|
NM_000379.4(XDH):c.2969+66dup
|
rs11408029
|
|
NM_000379.4(XDH):c.2969A>G (p.Lys990Arg)
|
|
|
NM_000379.4(XDH):c.2970-10T>C
|
|
|
NM_000379.4(XDH):c.3052-2A>G
|
rs2148755274
|
|
NM_000379.4(XDH):c.306+19G>A
|
|
|
NM_000379.4(XDH):c.307-11G>A
|
|
|
NM_000379.4(XDH):c.3103G>A (p.Gly1035Arg)
|
|
|
NM_000379.4(XDH):c.3144C>G (p.Val1048=)
|
|
|
NM_000379.4(XDH):c.3147+10C>G
|
|
|
NM_000379.4(XDH):c.3147+12T>C
|
|
|
NM_000379.4(XDH):c.3148-19A>G
|
|
|
NM_000379.4(XDH):c.3148-4G>C
|
rs545686434
|
|
NM_000379.4(XDH):c.3165G>A (p.Leu1055=)
|
rs2148754583
|
|
NM_000379.4(XDH):c.3200C>T (p.Thr1067Ile)
|
|
|
NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser)
|
rs1685335731
|
|
NM_000379.4(XDH):c.3233C>T (p.Thr1078Met)
|
|
|
NM_000379.4(XDH):c.324C>T (p.Ser108=)
|
|
|
NM_000379.4(XDH):c.3263G>C (p.Gly1088Ala)
|
rs201855759
|
|
NM_000379.4(XDH):c.3270C>T (p.Ala1090=)
|
|
|
NM_000379.4(XDH):c.3271G>A (p.Val1091Ile)
|
rs45619033
|
|
NM_000379.4(XDH):c.3276+19C>T
|
|
|
NM_000379.4(XDH):c.3276+3A>G
|
|
|
NM_000379.4(XDH):c.3277-18G>T
|
|
|
NM_000379.4(XDH):c.3277-3del
|
rs767762797
|
|
NM_000379.4(XDH):c.3310C>T (p.Pro1104Ser)
|
|
|
NM_000379.4(XDH):c.3351+10A>C
|
|
|
NM_000379.4(XDH):c.3351G>C (p.Trp1117Cys)
|
|
|
NM_000379.4(XDH):c.3392C>T (p.Thr1131Ile)
|
rs550042471
|
|
NM_000379.4(XDH):c.3401A>G (p.Tyr1134Cys)
|
|
|
NM_000379.4(XDH):c.3404+10G>C
|
rs773067358
|
|
NM_000379.4(XDH):c.3404+17C>T
|
|
|
NM_000379.4(XDH):c.3467A>G (p.Tyr1156Cys)
|
|
|
NM_000379.4(XDH):c.3497A>T (p.Asp1166Val)
|
|
|
NM_000379.4(XDH):c.3507del (p.Gly1170fs)
|
rs1558674294
|
|
NM_000379.4(XDH):c.3519G>C (p.Lys1173Asn)
|
rs1457219256
|
|
NM_000379.4(XDH):c.3520-14G>T
|
|
|
NM_000379.4(XDH):c.3522C>A (p.Asn1174Lys)
|
|
|
NM_000379.4(XDH):c.3549T>G (p.Val1183=)
|
|
|
NM_000379.4(XDH):c.3562A>C (p.Asn1188His)
|
rs1685119218
|
|
NM_000379.4(XDH):c.3576T>C (p.Asp1192=)
|
|
|
NM_000379.4(XDH):c.3582A>T (p.Gly1194=)
|
rs2148749760
|
|
NM_000379.4(XDH):c.3585+20G>C
|
|
|
NM_000379.4(XDH):c.3585+6G>C
|
|
|
NM_000379.4(XDH):c.3586-17C>T
|
|
|
NM_000379.4(XDH):c.3586-21_3586-20del
|
rs531981113
|
|
NM_000379.4(XDH):c.360C>T (p.Ile120=)
|
|
|
NM_000379.4(XDH):c.3615C>A (p.Gly1205=)
|
|
|
NM_000379.4(XDH):c.3648C>T (p.Pro1216=)
|
|
|
NM_000379.4(XDH):c.364A>T (p.Met122Leu)
|
|
|
NM_000379.4(XDH):c.3668G>A (p.Arg1223His)
|
|
|
NM_000379.4(XDH):c.366G>A (p.Met122Ile)
|
|
|
NM_000379.4(XDH):c.3671G>T (p.Gly1224Val)
|
|
|
NM_000379.4(XDH):c.3693G>A (p.Pro1231=)
|
|
|
NM_000379.4(XDH):c.3711del (p.Ile1238fs)
|
|
|
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe)
|
rs375290824
|
|
NM_000379.4(XDH):c.3764A>T (p.Tyr1255Phe)
|
|
|
NM_000379.4(XDH):c.3768A>T (p.Ala1256=)
|
|
|
NM_000379.4(XDH):c.3774+17T>A
|
|
|
NM_000379.4(XDH):c.3775-7T>C
|
|
|
NM_000379.4(XDH):c.3822C>T (p.Ala1274=)
|
|
|
NM_000379.4(XDH):c.3829G>C (p.Asp1277His)
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NM_000379.4(XDH):c.3867T>C (p.Asn1289=)
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NM_000379.4(XDH):c.3894C>G (p.Asp1298Glu)
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NM_000379.4(XDH):c.3908C>T (p.Pro1303Leu)
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NM_000379.4(XDH):c.3943_3949dup (p.Leu1317fs)
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NM_000379.4(XDH):c.3951+5G>T
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NM_000379.4(XDH):c.3959C>G (p.Thr1320Ser)
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NM_000379.4(XDH):c.401C>T (p.Pro134Leu)
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NM_000379.4(XDH):c.433+18C>T
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NM_000379.4(XDH):c.434-14T>G
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NM_000379.4(XDH):c.434-19dup
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rs747562658
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NM_000379.4(XDH):c.434-4A>G
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NM_000379.4(XDH):c.460A>G (p.Arg154Gly)
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rs1428180502
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NM_000379.4(XDH):c.468C>T (p.Ile156=)
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NM_000379.4(XDH):c.469C>T (p.Leu157Phe)
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NM_000379.4(XDH):c.481C>T (p.Arg161Trp)
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NM_000379.4(XDH):c.484A>G (p.Thr162Ala)
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NM_000379.4(XDH):c.48G>A (p.Val16=)
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rs2148010588
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NM_000379.4(XDH):c.495+14C>T
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NM_000379.4(XDH):c.495+8G>A
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rs2148003135
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NM_000379.4(XDH):c.496-14C>A
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NM_000379.4(XDH):c.522G>T (p.Gly174=)
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NM_000379.4(XDH):c.547C>T (p.Gln183Ter)
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NM_000379.4(XDH):c.561C>T (p.His187=)
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NM_000379.4(XDH):c.564+14_564+16del
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NM_000379.4(XDH):c.565-14C>G
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NM_000379.4(XDH):c.565-1G>A
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rs1021978271
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NM_000379.4(XDH):c.565-5C>T
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NM_000379.4(XDH):c.575C>A (p.Ser192Ter)
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NM_000379.4(XDH):c.575C>T (p.Ser192Leu)
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NM_000379.4(XDH):c.576G>A (p.Ser192=)
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NM_000379.4(XDH):c.598G>T (p.Glu200Ter)
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rs2147994449
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NM_000379.4(XDH):c.641del (p.Pro214fs)
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rs778685046
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NM_000379.4(XDH):c.654G>A (p.Arg218=)
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NM_000379.4(XDH):c.657G>A (p.Leu219=)
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NM_000379.4(XDH):c.697C>T (p.Arg233Cys)
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NM_000379.4(XDH):c.705G>A (p.Thr235=)
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NM_000379.4(XDH):c.717C>T (p.Ala239=)
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rs763393500
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NM_000379.4(XDH):c.744C>A (p.Leu248=)
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rs1558307331
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NM_000379.4(XDH):c.751C>T (p.Gln251Ter)
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NM_000379.4(XDH):c.752A>G (p.Gln251Arg)
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NM_000379.4(XDH):c.762C>A (p.Asp254Glu)
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rs140858800
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NM_000379.4(XDH):c.762C>T (p.Asp254=)
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NM_000379.4(XDH):c.763G>A (p.Ala255Thr)
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NM_000379.4(XDH):c.775G>A (p.Val259Met)
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rs373279221
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NM_000379.4(XDH):c.78T>C (p.Leu26=)
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NM_000379.4(XDH):c.793+19G>T
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NM_000379.4(XDH):c.793+20C>T
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NM_000379.4(XDH):c.794-12G>A
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NM_000379.4(XDH):c.794-18C>T
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rs2148782478
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NM_000379.4(XDH):c.794-6C>G
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NM_000379.4(XDH):c.82G>A (p.Ala28Thr)
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NM_000379.4(XDH):c.837C>G (p.Val279=)
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NM_000379.4(XDH):c.851_862del (p.Ile284_Leu287del)
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NM_000379.4(XDH):c.856G>C (p.Glu286Gln)
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NM_000379.4(XDH):c.866C>T (p.Ser289Leu)
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NM_000379.4(XDH):c.879A>G (p.Gly293=)
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NM_000379.4(XDH):c.886+10G>C
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NM_000379.4(XDH):c.887-16G>A
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NM_000379.4(XDH):c.887-8G>A
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NM_000379.4(XDH):c.909C>T (p.Cys303=)
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NM_000379.4(XDH):c.912C>T (p.Pro304=)
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NM_000379.4(XDH):c.915G>C (p.Leu305=)
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NM_000379.4(XDH):c.922G>C (p.Val308Leu)
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NM_000379.4(XDH):c.953A>T (p.Lys318Met)
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NM_000379.4(XDH):c.974A>C (p.Glu325Ala)
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NM_000379.4(XDH):c.988G>A (p.Val330Ile)
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rs1686479998
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