NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00025
|
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=)
|
rs149577148
|
0.00024
|
NM_031407.7(HUWE1):c.11477-6C>T
|
rs1269602767
|
0.00007
|
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu)
|
rs140366563
|
0.00006
|
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr)
|
rs782773400
|
0.00005
|
NM_031407.7(HUWE1):c.10997T>C (p.Leu3666Pro)
|
rs140812928
|
0.00005
|
NM_031407.7(HUWE1):c.4006A>G (p.Met1336Val)
|
rs782123207
|
0.00005
|
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)
|
rs782526786
|
0.00004
|
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys)
|
rs782376870
|
0.00003
|
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)
|
rs1556915795
|
0.00003
|
NM_031407.7(HUWE1):c.11996+9C>T
|
rs782772316
|
0.00003
|
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)
|
rs781928056
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln)
|
rs1290768701
|
0.00002
|
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr)
|
rs782688724
|
0.00002
|
NM_031407.7(HUWE1):c.80A>G (p.Lys27Arg)
|
rs782364822
|
0.00002
|
NM_031407.7(HUWE1):c.8558A>T (p.Glu2853Val)
|
rs782052479
|
0.00002
|
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg)
|
rs1370251359
|
0.00002
|
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr)
|
rs782307186
|
0.00001
|
NM_031407.7(HUWE1):c.10514C>T (p.Pro3505Leu)
|
rs2061609827
|
0.00001
|
NM_031407.7(HUWE1):c.10942T>C (p.Tyr3648His)
|
rs1053063337
|
0.00001
|
NM_031407.7(HUWE1):c.11152T>C (p.Ser3718Pro)
|
rs2061478763
|
0.00001
|
NM_031407.7(HUWE1):c.11356C>T (p.Arg3786Trp)
|
rs781924853
|
0.00001
|
NM_031407.7(HUWE1):c.11357G>A (p.Arg3786Gln)
|
rs1397073912
|
0.00001
|
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro)
|
rs1012962799
|
0.00001
|
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu)
|
rs1430366832
|
0.00001
|
NM_031407.7(HUWE1):c.12659G>A (p.Arg4220His)
|
rs781879793
|
0.00001
|
NM_031407.7(HUWE1):c.12857G>A (p.Arg4286His)
|
rs782290958
|
0.00001
|
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)
|
rs143599552
|
0.00001
|
NM_031407.7(HUWE1):c.13069C>T (p.Arg4357Cys)
|
rs2060851157
|
0.00001
|
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala)
|
rs781821524
|
0.00001
|
NM_031407.7(HUWE1):c.1736A>G (p.Asn579Ser)
|
rs782217635
|
0.00001
|
NM_031407.7(HUWE1):c.2044A>G (p.Ile682Val)
|
rs147812278
|
0.00001
|
NM_031407.7(HUWE1):c.211A>G (p.Thr71Ala)
|
rs1557036913
|
0.00001
|
NM_031407.7(HUWE1):c.2230A>G (p.Thr744Ala)
|
rs1557005524
|
0.00001
|
NM_031407.7(HUWE1):c.2653C>T (p.Leu885Phe)
|
rs368371869
|
0.00001
|
NM_031407.7(HUWE1):c.2785T>G (p.Leu929Val)
|
rs781791165
|
0.00001
|
NM_031407.7(HUWE1):c.2959G>A (p.Gly987Arg)
|
rs1179696036
|
0.00001
|
NM_031407.7(HUWE1):c.4231C>T (p.Arg1411Trp)
|
rs1325872946
|
0.00001
|
NM_031407.7(HUWE1):c.5325G>T (p.Leu1775Phe)
|
rs1556970312
|
0.00001
|
NM_031407.7(HUWE1):c.5840A>G (p.Tyr1947Cys)
|
rs1483703467
|
0.00001
|
NM_031407.7(HUWE1):c.5984C>T (p.Thr1995Met)
|
rs916882897
|
0.00001
|
NM_031407.7(HUWE1):c.6052G>A (p.Gly2018Ser)
|
rs1556957279
|
0.00001
|
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr)
|
rs2062442667
|
0.00001
|
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly)
|
rs797044641
|
0.00001
|
NM_031407.7(HUWE1):c.8300C>T (p.Ser2767Phe)
|
rs1473704881
|
0.00001
|
NM_031407.7(HUWE1):c.8782A>G (p.Thr2928Ala)
|
rs1556929944
|
0.00001
|
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp)
|
rs373845421
|
0.00001
|
NM_031407.7(HUWE1):c.9776G>A (p.Cys3259Tyr)
|
rs1556926290
|
0.00001
|
GRCh37/hg19 Xp11.22(chrX:53709892-53924270)x3
|
|
|
NM_031407.7(HUWE1):c.10006G>A (p.Val3336Ile)
|
|
|
NM_031407.7(HUWE1):c.10064G>A (p.Arg3355Gln)
|
rs926329085
|
|
NM_031407.7(HUWE1):c.10070A>G (p.Lys3357Arg)
|
|
|
NM_031407.7(HUWE1):c.10094G>A (p.Arg3365Gln)
|
rs1449165385
|
|
NM_031407.7(HUWE1):c.10133A>T (p.Gln3378Leu)
|
|
|
NM_031407.7(HUWE1):c.10232T>C (p.Val3411Ala)
|
rs2147222252
|
|
NM_031407.7(HUWE1):c.10260A>T (p.Glu3420Asp)
|
|
|
NM_031407.7(HUWE1):c.10262C>G (p.Thr3421Ser)
|
|
|
NM_031407.7(HUWE1):c.10267C>T (p.Pro3423Ser)
|
|
|
NM_031407.7(HUWE1):c.10330C>T (p.Arg3444Cys)
|
|
|
NM_031407.7(HUWE1):c.10333C>T (p.Arg3445Trp)
|
|
|
NM_031407.7(HUWE1):c.10376T>C (p.Leu3459Pro)
|
|
|
NM_031407.7(HUWE1):c.10459_10491del (p.Thr3487_Ala3497del)
|
|
|
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
|
|
|
NM_031407.7(HUWE1):c.10486_10488del (p.Thr3496del)
|
|
|
NM_031407.7(HUWE1):c.10499C>T (p.Thr3500Ile)
|
|
|
NM_031407.7(HUWE1):c.10502C>T (p.Thr3501Met)
|
rs782741075
|
|
NM_031407.7(HUWE1):c.10513C>T (p.Pro3505Ser)
|
|
|
NM_031407.7(HUWE1):c.10529C>T (p.Pro3510Leu)
|
|
|
NM_031407.7(HUWE1):c.10534A>G (p.Thr3512Ala)
|
|
|
NM_031407.7(HUWE1):c.10546G>A (p.Ala3516Thr)
|
|
|
NM_031407.7(HUWE1):c.10555G>C (p.Ala3519Pro)
|
|
|
NM_031407.7(HUWE1):c.10556C>T (p.Ala3519Val)
|
rs782241218
|
|
NM_031407.7(HUWE1):c.10567A>G (p.Ile3523Val)
|
rs2147214004
|
|
NM_031407.7(HUWE1):c.10618G>C (p.Ala3540Pro)
|
|
|
NM_031407.7(HUWE1):c.10636+6T>A
|
rs2147212563
|
|
NM_031407.7(HUWE1):c.10687G>T (p.Gly3563Cys)
|
|
|
NM_031407.7(HUWE1):c.10720T>G (p.Ser3574Ala)
|
|
|
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
|
|
|
NM_031407.7(HUWE1):c.10729A>G (p.Thr3577Ala)
|
|
|
NM_031407.7(HUWE1):c.10758G>C (p.Glu3586Asp)
|
rs2061554657
|
|
NM_031407.7(HUWE1):c.10828C>T (p.Arg3610Trp)
|
|
|
NM_031407.7(HUWE1):c.11018C>T (p.Thr3673Ile)
|
rs1556921577
|
|
NM_031407.7(HUWE1):c.11057T>C (p.Met3686Thr)
|
rs2147136719
|
|
NM_031407.7(HUWE1):c.11071G>A (p.Val3691Ile)
|
|
|
NM_031407.7(HUWE1):c.11166CTT[1] (p.Phe3723del)
|
|
|
NM_031407.7(HUWE1):c.11212C>T (p.Arg3738Cys)
|
|
|
NM_031407.7(HUWE1):c.11268C>T (p.Gly3756=)
|
|
|
NM_031407.7(HUWE1):c.11332A>T (p.Met3778Leu)
|
rs782080178
|
|
NM_031407.7(HUWE1):c.11401G>T (p.Ala3801Ser)
|
|
|
NM_031407.7(HUWE1):c.11461G>A (p.Asp3821Asn)
|
|
|
NM_031407.7(HUWE1):c.11468A>G (p.Gln3823Arg)
|
|
|
NM_031407.7(HUWE1):c.11562C>A (p.Asp3854Glu)
|
|
|
NM_031407.7(HUWE1):c.11575A>G (p.Met3859Val)
|
rs2061255061
|
|
NM_031407.7(HUWE1):c.11696C>T (p.Pro3899Leu)
|
|
|
NM_031407.7(HUWE1):c.11764C>T (p.Pro3922Ser)
|
|
|
NM_031407.7(HUWE1):c.11809C>G (p.Arg3937Gly)
|
rs2146961040
|
|
NM_031407.7(HUWE1):c.11849C>G (p.Pro3950Arg)
|
rs2061211944
|
|
NM_031407.7(HUWE1):c.11888G>C (p.Arg3963Pro)
|
|
|
NM_031407.7(HUWE1):c.11911C>T (p.Arg3971Trp)
|
|
|
NM_031407.7(HUWE1):c.11912G>A (p.Arg3971Gln)
|
rs1556915088
|
|
NM_031407.7(HUWE1):c.11996+6T>C
|
|
|
NM_031407.7(HUWE1):c.12038G>A (p.Arg4013Gln)
|
|
|
NM_031407.7(HUWE1):c.12074A>G (p.His4025Arg)
|
|
|
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
|
|
|
NM_031407.7(HUWE1):c.12182T>C (p.Leu4061Pro)
|
rs2146881377
|
|
NM_031407.7(HUWE1):c.12187C>T (p.Arg4063Trp)
|
rs2146881246
|
|
NM_031407.7(HUWE1):c.12235G>T (p.Ala4079Ser)
|
rs2146880540
|
|
NM_031407.7(HUWE1):c.12275C>A (p.Thr4092Asn)
|
rs587780358
|
|
NM_031407.7(HUWE1):c.12281A>G (p.Asn4094Ser)
|
|
|
NM_031407.7(HUWE1):c.12386C>G (p.Thr4129Ser)
|
rs2146878580
|
|
NM_031407.7(HUWE1):c.12400A>C (p.Lys4134Gln)
|
rs2146878203
|
|
NM_031407.7(HUWE1):c.1243-7G>A
|
|
|
NM_031407.7(HUWE1):c.12436A>G (p.Met4146Val)
|
rs2061057437
|
|
NM_031407.7(HUWE1):c.12478C>A (p.Leu4160Met)
|
|
|
NM_031407.7(HUWE1):c.12499A>G (p.Thr4167Ala)
|
rs2146867886
|
|
NM_031407.7(HUWE1):c.12514C>G (p.Leu4172Val)
|
|
|
NM_031407.7(HUWE1):c.12532-3T>C
|
|
|
NM_031407.7(HUWE1):c.12603G>C (p.Glu4201Asp)
|
|
|
NM_031407.7(HUWE1):c.1261G>A (p.Asp421Asn)
|
|
|
NM_031407.7(HUWE1):c.12624C>G (p.His4208Gln)
|
rs1395806356
|
|
NM_031407.7(HUWE1):c.12633C>T (p.Cys4211=)
|
rs2146826004
|
|
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val)
|
rs398124423
|
|
NM_031407.7(HUWE1):c.12700A>G (p.Ile4234Val)
|
|
|
NM_031407.7(HUWE1):c.1274A>T (p.Gln425Leu)
|
|
|
NM_031407.7(HUWE1):c.12782A>C (p.Asp4261Ala)
|
|
|
NM_031407.7(HUWE1):c.12821A>G (p.Asn4274Ser)
|
rs148067102
|
|
NM_031407.7(HUWE1):c.12826A>C (p.Ile4276Leu)
|
rs1131691395
|
|
NM_031407.7(HUWE1):c.12856C>T (p.Arg4286Cys)
|
|
|
NM_031407.7(HUWE1):c.12878G>A (p.Arg4293His)
|
|
|
NM_031407.7(HUWE1):c.12882C>G (p.Ala4294=)
|
|
|
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)
|
rs1325394060
|
|
NM_031407.7(HUWE1):c.12895T>C (p.Phe4299Leu)
|
rs1556909363
|
|
NM_031407.7(HUWE1):c.12903A>C (p.Thr4301=)
|
|
|
NM_031407.7(HUWE1):c.12929G>A (p.Gly4310Asp)
|
rs2146746826
|
|
NM_031407.7(HUWE1):c.12943G>A (p.Glu4315Lys)
|
|
|
NM_031407.7(HUWE1):c.12948C>T (p.Gly4316=)
|
rs2146746171
|
|
NM_031407.7(HUWE1):c.12951G>C (p.Met4317Ile)
|
rs2146746117
|
|
NM_031407.7(HUWE1):c.12958A>T (p.Ile4320Phe)
|
rs2060890993
|
|
NM_031407.7(HUWE1):c.12992C>T (p.Ser4331Phe)
|
rs2146745211
|
|
NM_031407.7(HUWE1):c.13001G>A (p.Arg4334His)
|
|
|
NM_031407.7(HUWE1):c.1348C>T (p.His450Tyr)
|
rs797044657
|
|
NM_031407.7(HUWE1):c.1360T>C (p.Ser454Pro)
|
|
|
NM_031407.7(HUWE1):c.137T>G (p.Ile46Ser)
|
|
|
NM_031407.7(HUWE1):c.1415C>T (p.Pro472Leu)
|
rs2066587739
|
|
NM_031407.7(HUWE1):c.1421T>C (p.Val474Ala)
|
rs1557018809
|
|
NM_031407.7(HUWE1):c.145-3C>T
|
|
|
NM_031407.7(HUWE1):c.1582A>G (p.Ile528Val)
|
rs2148965520
|
|
NM_031407.7(HUWE1):c.1616C>G (p.Ser539Cys)
|
|
|
NM_031407.7(HUWE1):c.1627A>G (p.Ile543Val)
|
rs2066367374
|
|
NM_031407.7(HUWE1):c.1671A>T (p.Leu557=)
|
|
|
NM_031407.7(HUWE1):c.1779+2T>C
|
rs2148854504
|
|
NM_031407.7(HUWE1):c.1780-16T>G
|
rs2148851437
|
|
NM_031407.7(HUWE1):c.1780-3T>C
|
|
|
NM_031407.7(HUWE1):c.1783C>T (p.Pro595Ser)
|
|
|
NM_031407.7(HUWE1):c.178C>T (p.Arg60Cys)
|
|
|
NM_031407.7(HUWE1):c.1883A>C (p.Glu628Ala)
|
rs2148850658
|
|
NM_031407.7(HUWE1):c.1957+5G>A
|
rs929965028
|
|
NM_031407.7(HUWE1):c.197C>T (p.Ala66Val)
|
|
|
NM_031407.7(HUWE1):c.2032A>G (p.Thr678Ala)
|
|
|
NM_031407.7(HUWE1):c.2071C>G (p.Leu691Val)
|
|
|
NM_031407.7(HUWE1):c.2119G>T (p.Ala707Ser)
|
rs1447514697
|
|
NM_031407.7(HUWE1):c.2138C>T (p.Ala713Val)
|
|
|
NM_031407.7(HUWE1):c.2165C>A (p.Ala722Glu)
|
rs2148818485
|
|
NM_031407.7(HUWE1):c.2173G>A (p.Ala725Thr)
|
|
|
NM_031407.7(HUWE1):c.2192AGGAAG[1] (p.Glu733_Glu734del)
|
rs398124424
|
|
NM_031407.7(HUWE1):c.2228C>G (p.Ser743Cys)
|
|
|
NM_031407.7(HUWE1):c.2261+7_2261+8del
|
|
|
NM_031407.7(HUWE1):c.2272A>G (p.Thr758Ala)
|
rs2148720787
|
|
NM_031407.7(HUWE1):c.2456C>G (p.Ala819Gly)
|
rs2148705177
|
|
NM_031407.7(HUWE1):c.2467G>T (p.Ala823Ser)
|
|
|
NM_031407.7(HUWE1):c.2561C>T (p.Ser854Phe)
|
|
|
NM_031407.7(HUWE1):c.2568G>T (p.Glu856Asp)
|
|
|
NM_031407.7(HUWE1):c.2576A>G (p.His859Arg)
|
|
|
NM_031407.7(HUWE1):c.2579G>A (p.Arg860His)
|
rs879987940
|
|
NM_031407.7(HUWE1):c.2635A>G (p.Asn879Asp)
|
|
|
NM_031407.7(HUWE1):c.2683G>A (p.Ala895Thr)
|
|
|
NM_031407.7(HUWE1):c.2743-9T>C
|
|
|
NM_031407.7(HUWE1):c.2762C>T (p.Ser921Phe)
|
rs1556993423
|
|
NM_031407.7(HUWE1):c.2764G>A (p.Val922Ile)
|
|
|
NM_031407.7(HUWE1):c.2929A>G (p.Lys977Glu)
|
rs1556992080
|
|
NM_031407.7(HUWE1):c.2940G>C (p.Lys980Asn)
|
|
|
NM_031407.7(HUWE1):c.2953C>A (p.Gln985Lys)
|
|
|
NM_031407.7(HUWE1):c.2962A>G (p.Lys988Glu)
|
rs2148635382
|
|
NM_031407.7(HUWE1):c.2963A>G (p.Lys988Arg)
|
|
|
NM_031407.7(HUWE1):c.2975G>T (p.Gly992Val)
|
rs2148590113
|
|
NM_031407.7(HUWE1):c.3008C>T (p.Ala1003Val)
|
rs2064749943
|
|
NM_031407.7(HUWE1):c.301G>A (p.Ala101Thr)
|
|
|
NM_031407.7(HUWE1):c.3088T>A (p.Ser1030Thr)
|
|
|
NM_031407.7(HUWE1):c.3149A>G (p.Lys1050Arg)
|
|
|
NM_031407.7(HUWE1):c.3156G>T (p.Leu1052Phe)
|
|
|
NM_031407.7(HUWE1):c.3271A>C (p.Thr1091Pro)
|
|
|
NM_031407.7(HUWE1):c.3271A>G (p.Thr1091Ala)
|
rs2148504032
|
|
NM_031407.7(HUWE1):c.3296G>A (p.Arg1099Gln)
|
|
|
NM_031407.7(HUWE1):c.3349C>T (p.Pro1117Ser)
|
|
|
NM_031407.7(HUWE1):c.3424C>A (p.Leu1142Met)
|
|
|
NM_031407.7(HUWE1):c.3489C>G (p.His1163Gln)
|
rs2148491261
|
|
NM_031407.7(HUWE1):c.3493G>T (p.Ala1165Ser)
|
|
|
NM_031407.7(HUWE1):c.371C>T (p.Ala124Val)
|
|
|
NM_031407.7(HUWE1):c.3979G>C (p.Asp1327His)
|
|
|
NM_031407.7(HUWE1):c.397G>A (p.Ala133Thr)
|
|
|
NM_031407.7(HUWE1):c.4004C>G (p.Ala1335Gly)
|
rs2064132185
|
|
NM_031407.7(HUWE1):c.4006A>T (p.Met1336Leu)
|
|
|
NM_031407.7(HUWE1):c.4069C>G (p.Pro1357Ala)
|
rs2148434474
|
|
NM_031407.7(HUWE1):c.4082GAG[1] (p.Gly1362del)
|
|
|
NM_031407.7(HUWE1):c.4159A>G (p.Ile1387Val)
|
rs2148424601
|
|
NM_031407.7(HUWE1):c.4180G>A (p.Glu1394Lys)
|
|
|
NM_031407.7(HUWE1):c.4183T>G (p.Ser1395Ala)
|
|
|
NM_031407.7(HUWE1):c.4191G>A (p.Glu1397=)
|
|
|
NM_031407.7(HUWE1):c.4289C>T (p.Pro1430Leu)
|
|
|
NM_031407.7(HUWE1):c.431G>A (p.Arg144Lys)
|
|
|
NM_031407.7(HUWE1):c.4327A>G (p.Met1443Val)
|
|
|
NM_031407.7(HUWE1):c.4356T>A (p.Asp1452Glu)
|
|
|
NM_031407.7(HUWE1):c.4432G>A (p.Asp1478Asn)
|
|
|
NM_031407.7(HUWE1):c.4457A>G (p.Asn1486Ser)
|
|
|
NM_031407.7(HUWE1):c.446C>T (p.Thr149Ile)
|
|
|
NM_031407.7(HUWE1):c.449G>A (p.Arg150His)
|
rs2067906873
|
|
NM_031407.7(HUWE1):c.4561C>T (p.Pro1521Ser)
|
rs2148391292
|
|
NM_031407.7(HUWE1):c.4654G>A (p.Gly1552Ser)
|
|
|
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu)
|
rs2149250400
|
|
NM_031407.7(HUWE1):c.473del (p.Pro158fs)
|
rs1557034745
|
|
NM_031407.7(HUWE1):c.4743G>A (p.Lys1581=)
|
|
|
NM_031407.7(HUWE1):c.4747A>C (p.Ile1583Leu)
|
|
|
NM_031407.7(HUWE1):c.4782A>C (p.Glu1594Asp)
|
|
|
NM_031407.7(HUWE1):c.4787C>T (p.Thr1596Ile)
|
|
|
NM_031407.7(HUWE1):c.484C>T (p.Arg162Trp)
|
|
|
NM_031407.7(HUWE1):c.4867C>T (p.Arg1623Cys)
|
|
|
NM_031407.7(HUWE1):c.4868G>T (p.Arg1623Leu)
|
rs1556972093
|
|
NM_031407.7(HUWE1):c.4871C>A (p.Ser1624Tyr)
|
|
|
NM_031407.7(HUWE1):c.4919C>G (p.Ser1640Cys)
|
rs1556972050
|
|
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys)
|
rs201226547
|
|
NM_031407.7(HUWE1):c.5060G>A (p.Arg1687Gln)
|
|
|
NM_031407.7(HUWE1):c.5071A>T (p.Asn1691Tyr)
|
|
|
NM_031407.7(HUWE1):c.5099T>C (p.Leu1700Pro)
|
rs2148314375
|
|
NM_031407.7(HUWE1):c.50C>T (p.Ala17Val)
|
rs868987422
|
|
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys)
|
rs2148314338
|
|
NM_031407.7(HUWE1):c.5104A>G (p.Lys1702Glu)
|
rs1602870336
|
|
NM_031407.7(HUWE1):c.5113G>T (p.Glu1705Ter)
|
|
|
NM_031407.7(HUWE1):c.5131G>A (p.Asp1711Asn)
|
|
|
NM_031407.7(HUWE1):c.5133T>A (p.Asp1711Glu)
|
|
|
NM_031407.7(HUWE1):c.5158A>G (p.Asn1720Asp)
|
|
|
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)
|
|
|
NM_031407.7(HUWE1):c.5168C>T (p.Pro1723Leu)
|
|
|
NM_031407.7(HUWE1):c.5197A>G (p.Lys1733Glu)
|
|
|
NM_031407.7(HUWE1):c.5208C>G (p.Ser1736Arg)
|
|
|
NM_031407.7(HUWE1):c.5213A>T (p.Glu1738Val)
|
|
|
NM_031407.7(HUWE1):c.5222A>G (p.Lys1741Arg)
|
|
|
NM_031407.7(HUWE1):c.5225T>C (p.Ile1742Thr)
|
|
|
NM_031407.7(HUWE1):c.535C>G (p.Leu179Val)
|
|
|
NM_031407.7(HUWE1):c.5404C>T (p.Arg1802Cys)
|
|
|
NM_031407.7(HUWE1):c.5412C>G (p.Ile1804Met)
|
|
|
NM_031407.7(HUWE1):c.5491C>T (p.Pro1831Ser)
|
|
|
NM_031407.7(HUWE1):c.5528G>A (p.Arg1843His)
|
rs727503965
|
|
NM_031407.7(HUWE1):c.5542A>G (p.Ser1848Gly)
|
rs2148240967
|
|
NM_031407.7(HUWE1):c.5548G>A (p.Ala1850Thr)
|
|
|
NM_031407.7(HUWE1):c.5599A>G (p.Ile1867Val)
|
rs2148240397
|
|
NM_031407.7(HUWE1):c.559C>G (p.His187Asp)
|
|
|
NM_031407.7(HUWE1):c.5648A>G (p.Asp1883Gly)
|
|
|
NM_031407.7(HUWE1):c.5662G>C (p.Val1888Leu)
|
rs782222601
|
|
NM_031407.7(HUWE1):c.5669A>G (p.Asn1890Ser)
|
|
|
NM_031407.7(HUWE1):c.5669A>T (p.Asn1890Ile)
|
rs2063584045
|
|
NM_031407.7(HUWE1):c.5695G>T (p.Ala1899Ser)
|
|
|
NM_031407.7(HUWE1):c.5707T>C (p.Ser1903Pro)
|
|
|
NM_031407.7(HUWE1):c.5785C>T (p.Pro1929Ser)
|
|
|
NM_031407.7(HUWE1):c.5806C>T (p.Pro1936Ser)
|
|
|
NM_031407.7(HUWE1):c.5809G>C (p.Val1937Leu)
|
rs139776182
|
|
NM_031407.7(HUWE1):c.5826C>G (p.Ile1942Met)
|
|
|
NM_031407.7(HUWE1):c.5833G>T (p.Val1945Leu)
|
|
|
NM_031407.7(HUWE1):c.5836A>G (p.Ile1946Val)
|
|
|
NM_031407.7(HUWE1):c.5851A>T (p.Asn1951Tyr)
|
|
|
NM_031407.7(HUWE1):c.5854G>T (p.Ala1952Ser)
|
|
|
NM_031407.7(HUWE1):c.5905C>T (p.Pro1969Ser)
|
rs2148006773
|
|
NM_031407.7(HUWE1):c.5921A>T (p.Gln1974Leu)
|
|
|
NM_031407.7(HUWE1):c.5926G>A (p.Val1976Ile)
|
|
|
NM_031407.7(HUWE1):c.5933A>T (p.Gln1978Leu)
|
|
|
NM_031407.7(HUWE1):c.5945A>G (p.Asp1982Gly)
|
|
|
NM_031407.7(HUWE1):c.5970G>C (p.Gln1990His)
|
|
|
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)
|
rs1602749982
|
|
NM_031407.7(HUWE1):c.6031-14TTC[3]
|
rs782420395
|
|
NM_031407.7(HUWE1):c.6169C>G (p.Gln2057Glu)
|
|
|
NM_031407.7(HUWE1):c.6232T>G (p.Leu2078Val)
|
rs1482548159
|
|
NM_031407.7(HUWE1):c.6248T>C (p.Val2083Ala)
|
|
|
NM_031407.7(HUWE1):c.6289G>A (p.Gly2097Ser)
|
|
|
NM_031407.7(HUWE1):c.6306C>G (p.Ile2102Met)
|
|
|
NM_031407.7(HUWE1):c.6312+7T>A
|
|
|
NM_031407.7(HUWE1):c.6322G>A (p.Val2108Met)
|
rs2062736777
|
|
NM_031407.7(HUWE1):c.6362A>C (p.Gln2121Pro)
|
rs1266542632
|
|
NM_031407.7(HUWE1):c.638A>G (p.Glu213Gly)
|
|
|
NM_031407.7(HUWE1):c.6436A>G (p.Thr2146Ala)
|
rs2147866295
|
|
NM_031407.7(HUWE1):c.6437C>T (p.Thr2146Ile)
|
|
|
NM_031407.7(HUWE1):c.645+1G>A
|
rs797045621
|
|
NM_031407.7(HUWE1):c.6484C>T (p.Arg2162Trp)
|
|
|
NM_031407.7(HUWE1):c.648_650del (p.Thr217del)
|
|
|
NM_031407.7(HUWE1):c.6532G>A (p.Ala2178Thr)
|
|
|
NM_031407.7(HUWE1):c.6533C>G (p.Ala2178Gly)
|
|
|
NM_031407.7(HUWE1):c.6542G>A (p.Cys2181Tyr)
|
|
|
NM_031407.7(HUWE1):c.6554C>T (p.Thr2185Ile)
|
|
|
NM_031407.7(HUWE1):c.6707+4A>G
|
|
|
NM_031407.7(HUWE1):c.6707G>A (p.Ser2236Asn)
|
|
|
NM_031407.7(HUWE1):c.6731A>G (p.Asn2244Ser)
|
|
|
NM_031407.7(HUWE1):c.6792T>G (p.Phe2264Leu)
|
|
|
NM_031407.7(HUWE1):c.6805G>A (p.Ala2269Thr)
|
|
|
NM_031407.7(HUWE1):c.6818A>G (p.Asn2273Ser)
|
|
|
NM_031407.7(HUWE1):c.6828G>T (p.Glu2276Asp)
|
|
|
NM_031407.7(HUWE1):c.6852A>C (p.Gln2284His)
|
|
|
NM_031407.7(HUWE1):c.6863G>A (p.Ser2288Asn)
|
rs2062461596
|
|
NM_031407.7(HUWE1):c.7062G>C (p.Glu2354Asp)
|
rs2147709817
|
|
NM_031407.7(HUWE1):c.7513A>G (p.Ile2505Val)
|
|
|
NM_031407.7(HUWE1):c.7514T>C (p.Ile2505Thr)
|
|
|
NM_031407.7(HUWE1):c.7535T>G (p.Ile2512Ser)
|
|
|
NM_031407.7(HUWE1):c.7546C>T (p.His2516Tyr)
|
rs1556939891
|
|
NM_031407.7(HUWE1):c.7627A>G (p.Ile2543Val)
|
rs2062224983
|
|
NM_031407.7(HUWE1):c.763-4A>G
|
rs2149057022
|
|
NM_031407.7(HUWE1):c.766C>G (p.Leu256Val)
|
rs2149056971
|
|
NM_031407.7(HUWE1):c.7728A>G (p.Ile2576Met)
|
|
|
NM_031407.7(HUWE1):c.7729C>G (p.Leu2577Val)
|
rs2147608226
|
|
NM_031407.7(HUWE1):c.7807C>G (p.Arg2603Gly)
|
|
|
NM_031407.7(HUWE1):c.7810G>C (p.Ala2604Pro)
|
rs868980495
|
|
NM_031407.7(HUWE1):c.7862A>G (p.Asp2621Gly)
|
|
|
NM_031407.7(HUWE1):c.7885C>A (p.His2629Asn)
|
rs2147586269
|
|
NM_031407.7(HUWE1):c.7900G>A (p.Ala2634Thr)
|
|
|
NM_031407.7(HUWE1):c.7966A>G (p.Lys2656Glu)
|
rs2147572610
|
|
NM_031407.7(HUWE1):c.7970T>G (p.Val2657Gly)
|
rs2062161583
|
|
NM_031407.7(HUWE1):c.8008G>C (p.Val2670Leu)
|
|
|
NM_031407.7(HUWE1):c.8023G>T (p.Val2675Phe)
|
|
|
NM_031407.7(HUWE1):c.8105C>T (p.Thr2702Ile)
|
|
|
NM_031407.7(HUWE1):c.8162G>A (p.Cys2721Tyr)
|
|
|
NM_031407.7(HUWE1):c.8206+6T>C
|
|
|
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
|
|
|
NM_031407.7(HUWE1):c.8230T>C (p.Tyr2744His)
|
|
|
NM_031407.7(HUWE1):c.8235AAC[1] (p.Thr2747del)
|
rs797044773
|
|
NM_031407.7(HUWE1):c.8237C>T (p.Thr2746Ile)
|
rs2061927403
|
|
NM_031407.7(HUWE1):c.8263A>C (p.Thr2755Pro)
|
|
|
NM_031407.7(HUWE1):c.8323C>T (p.Pro2775Ser)
|
|
|
NM_031407.7(HUWE1):c.8450A>G (p.Glu2817Gly)
|
|
|
NM_031407.7(HUWE1):c.8454_8455insTGT (p.Ala2818_Glu2819insCys)
|
|
|
NM_031407.7(HUWE1):c.8471A>C (p.Glu2824Ala)
|
|
|
NM_031407.7(HUWE1):c.8494+6T>C
|
|
|
NM_031407.7(HUWE1):c.8495C>T (p.Thr2832Ile)
|
|
|
NM_031407.7(HUWE1):c.8509G>A (p.Glu2837Lys)
|
|
|
NM_031407.7(HUWE1):c.8607G>T (p.Glu2869Asp)
|
|
|
NM_031407.7(HUWE1):c.8631_8654del (p.Glu2881_Ser2888del)
|
|
|
NM_031407.7(HUWE1):c.8735A>G (p.Gln2912Arg)
|
rs2147334334
|
|
NM_031407.7(HUWE1):c.8746G>A (p.Asp2916Asn)
|
|
|
NM_031407.7(HUWE1):c.8751-11A>G
|
rs2061804195
|
|
NM_031407.7(HUWE1):c.8792C>G (p.Ser2931Cys)
|
rs2147327392
|
|
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu)
|
rs2147326587
|
|
NM_031407.7(HUWE1):c.8882-3C>T
|
|
|
NM_031407.7(HUWE1):c.8996C>T (p.Pro2999Leu)
|
rs2147297862
|
|
NM_031407.7(HUWE1):c.916A>G (p.Ile306Val)
|
|
|
NM_031407.7(HUWE1):c.9197C>T (p.Pro3066Leu)
|
|
|
NM_031407.7(HUWE1):c.9347G>A (p.Ser3116Asn)
|
|
|
NM_031407.7(HUWE1):c.9384G>A (p.Pro3128=)
|
|
|
NM_031407.7(HUWE1):c.9385+15A>G
|
|
|
NM_031407.7(HUWE1):c.9473G>A (p.Ser3158Asn)
|
rs2147284634
|
|
NM_031407.7(HUWE1):c.947C>T (p.Thr316Met)
|
|
|
NM_031407.7(HUWE1):c.9488G>A (p.Arg3163Lys)
|
|
|
NM_031407.7(HUWE1):c.9497G>T (p.Gly3166Val)
|
|
|
NM_031407.7(HUWE1):c.94G>C (p.Glu32Gln)
|
rs2149288070
|
|
NM_031407.7(HUWE1):c.9500G>A (p.Ser3167Asn)
|
|
|
NM_031407.7(HUWE1):c.9527G>A (p.Arg3176Gln)
|
|
|
NM_031407.7(HUWE1):c.9532C>T (p.Arg3178Trp)
|
|
|
NM_031407.7(HUWE1):c.9550G>A (p.Glu3184Lys)
|
rs2147252505
|
|
NM_031407.7(HUWE1):c.963+4A>C
|
|
|
NM_031407.7(HUWE1):c.9694C>T (p.Arg3232Cys)
|
|
|
NM_031407.7(HUWE1):c.9779G>A (p.Gly3260Glu)
|
|
|
NM_031407.7(HUWE1):c.9788G>A (p.Ser3263Asn)
|
rs2147249505
|
|
NM_031407.7(HUWE1):c.97C>G (p.Gln33Glu)
|
|
|
NM_031407.7(HUWE1):c.9823A>G (p.Met3275Val)
|
rs2147248817
|
|
NM_031407.7(HUWE1):c.9913C>T (p.Arg3305Cys)
|
|
|
NM_031407.7(HUWE1):c.9958T>C (p.Ser3320Pro)
|
|
|
NM_031407.7(HUWE1):c.995C>T (p.Thr332Ile)
|
rs2149027742
|
|
NM_031407.7(HUWE1):c.9962C>T (p.Thr3321Ile)
|
|
|
NM_031407.7(HUWE1):c.9964G>A (p.Val3322Ile)
|
|
|
NM_031407.7(HUWE1):c.9964G>C (p.Val3322Leu)
|
|
|