ClinVar Miner

List of variants in gene HUWE1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 377
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HGVS dbSNP gnomAD frequency
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)

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