ClinVar Miner

List of variants in gene HUWE1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1004
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_031407.7(HUWE1):c.46-235T>G rs3788948 0.49223
NM_031407.7(HUWE1):c.46-225T>G rs3788947 0.45535
NM_031407.7(HUWE1):c.6097+125T>G rs35473057 0.45054
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_031407.7(HUWE1):c.12532-191C>G rs3747437 0.40043
NM_031407.7(HUWE1):c.1957+260T>C rs12861474 0.39786
NM_031407.7(HUWE1):c.5716+37T>G rs266786 0.34800
NM_031407.7(HUWE1):c.3380+69A>T rs1244413 0.34688
NM_031407.7(HUWE1):c.46-220G>T rs12387304 0.15848
NM_031407.7(HUWE1):c.46-240G>T rs12387306 0.15089
NM_031407.7(HUWE1):c.46-235_46-234insG rs60084410 0.12074
NM_031407.7(HUWE1):c.6030+161A>C rs113037415 0.09519
NM_031407.7(HUWE1):c.11996+197C>T rs45513301 0.05353
NM_031407.7(HUWE1):c.11632+25G>C rs111723336 0.04525
NM_031407.7(HUWE1):c.5716+49A>G rs112527868 0.04506
NM_031407.7(HUWE1):c.8161-30C>T rs17276588 0.04214
NM_031407.7(HUWE1):c.2497-164T>G rs145409781 0.04182
NM_031407.7(HUWE1):c.11251+106C>G rs73494279 0.04127
NM_031407.7(HUWE1):c.963+77G>T rs181183946 0.03112
NM_031407.7(HUWE1):c.11251+57C>G rs189563757 0.02557
NM_031407.7(HUWE1):c.2496+150A>C rs138098690 0.02542
NM_031407.7(HUWE1):c.2877-232C>T rs140414461 0.02405
NM_031407.7(HUWE1):c.1448A>G (p.Asn483Ser) rs41307640 0.01900
NM_031407.7(HUWE1):c.5716+135T>C rs112960727 0.01662
NM_031407.7(HUWE1):c.5717-87T>C rs112544918 0.01659
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) rs61742949 0.01493
NM_031407.7(HUWE1):c.568-62G>A rs141567766 0.01475
NM_031407.7(HUWE1):c.504+300T>C rs142606157 0.01471
NM_031407.7(HUWE1):c.2262-17C>A rs143891272 0.01465
NM_031407.7(HUWE1):c.7736+154_7736+155del rs200936982 0.01446
NM_031407.7(HUWE1):c.6525-310C>T rs113295951 0.01376
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.2050-185G>A rs138690081 0.01182
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.2876+218G>A rs144289730 0.01176
NM_031407.7(HUWE1):c.12138-80C>G rs2234476 0.01175
NM_031407.7(HUWE1):c.3164-78T>A rs147920163 0.01175
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_031407.7(HUWE1):c.1242+84C>T rs149350979 0.01171
NM_031407.7(HUWE1):c.4095+183A>G rs141824354 0.01024
NM_031407.7(HUWE1):c.7737-72G>A rs5933596 0.00999
NM_031407.7(HUWE1):c.6031-156C>T rs5933598 0.00994
NM_031407.7(HUWE1):c.11878+122G>T rs782404123 0.00990
NM_031407.7(HUWE1):c.11878+109A>T rs782572488 0.00987
NM_031407.7(HUWE1):c.7508-200C>T rs140191500 0.00918
NM_031407.7(HUWE1):c.12426-49C>T rs2234477 0.00884
NM_031407.7(HUWE1):c.5521-104A>G rs142709026 0.00828
NM_031407.7(HUWE1):c.10915+31C>T rs148627371 0.00821
NM_031407.7(HUWE1):c.12649+174A>G rs182259529 0.00802
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=) rs146554767 0.00775
NM_031407.7(HUWE1):c.11252-203G>A rs147361825 0.00756
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) rs41306894 0.00734
NM_031407.7(HUWE1):c.567+231G>A rs143935836 0.00726
NM_031407.7(HUWE1):c.3380+237C>T rs56117583 0.00724
NM_031407.7(HUWE1):c.12531+264G>C rs145468091 0.00717
NM_031407.7(HUWE1):c.504+86T>C rs139010646 0.00707
NM_031407.7(HUWE1):c.4825-200A>G rs7052269 0.00696
NM_031407.7(HUWE1):c.6097+7A>C rs147480463 0.00694
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_031407.7(HUWE1):c.12649+221G>C rs186393681 0.00689
NM_031407.7(HUWE1):c.567+102A>G rs184216383 0.00681
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.11878+61T>C rs189340842 0.00593
NM_031407.7(HUWE1):c.11878+82del rs372750589 0.00591
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_031407.7(HUWE1):c.8751-46C>T rs184593170 0.00589
NM_031407.7(HUWE1):c.8495-20T>C rs181550223 0.00576
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_031407.7(HUWE1):c.645+55T>G rs148382270 0.00557
NM_031407.7(HUWE1):c.12137+93G>A rs184142842 0.00529
NM_031407.7(HUWE1):c.13023-70C>T rs145555139 0.00514
NM_031407.7(HUWE1):c.11878+107A>T rs782169490 0.00491
NM_031407.7(HUWE1):c.4095+91T>C rs112629791 0.00442
NM_031407.7(HUWE1):c.645+175A>T rs112438519 0.00442
NM_031407.7(HUWE1):c.2261+192T>C rs111492825 0.00440
NM_031407.7(HUWE1):c.8881+59G>T rs112844529 0.00433
NM_031407.7(HUWE1):c.2876+36T>C rs199682158 0.00388
NM_031407.7(HUWE1):c.7916-102A>G rs138445320 0.00375
NM_031407.7(HUWE1):c.504+116C>A rs111837441 0.00353
NM_031407.7(HUWE1):c.9360A>G (p.Ala3120=) rs2281481 0.00353
NM_031407.7(HUWE1):c.6881-164A>G rs190431695 0.00345
NM_031407.7(HUWE1):c.4743-18A>T rs148439022 0.00344
NM_031407.7(HUWE1):c.46-230G>T rs28685078 0.00342
NM_031407.7(HUWE1):c.145-127G>T rs781885677 0.00311
NM_031407.7(HUWE1):c.2877-52dup rs782225303 0.00298
NM_031407.7(HUWE1):c.646-18T>C rs199711260 0.00273
NM_031407.7(HUWE1):c.8207-144G>A rs183655072 0.00263
NM_031407.7(HUWE1):c.2261+10T>G rs182313670 0.00187
NM_031407.7(HUWE1):c.11380-45A>G rs186467701 0.00160
NM_031407.7(HUWE1):c.45+86A>G rs138230407 0.00152
NM_031407.7(HUWE1):c.5716+15C>T rs183871461 0.00146
NM_031407.7(HUWE1):c.12649+16C>G rs190851126 0.00145
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_031407.7(HUWE1):c.12649+49C>T rs186050283 0.00137
NM_031407.7(HUWE1):c.4462-50C>G rs372659557 0.00135
NM_031407.7(HUWE1):c.4096-31A>G rs147957078 0.00119
NM_031407.7(HUWE1):c.6313-44A>G rs371832200 0.00114
NM_031407.7(HUWE1):c.1953C>G (p.Pro651=) rs139152809 0.00108
NM_031407.7(HUWE1):c.12137+9C>T rs186915283 0.00107
NM_031407.7(HUWE1):c.6880+44C>T rs56223755 0.00103
NM_031407.7(HUWE1):c.4095+12C>G rs186597579 0.00102
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744 0.00095
NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=) rs150043212 0.00092
NM_031407.7(HUWE1):c.10637-31G>C rs377658627 0.00088
NM_031407.7(HUWE1):c.8206+82T>G rs188750715 0.00085
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00079
NM_031407.7(HUWE1):c.12582C>G (p.Ala4194=) rs138323283 0.00078
NM_031407.7(HUWE1):c.6313-48T>C rs374068586 0.00075
NM_031407.7(HUWE1):c.6881-44A>G rs201567094 0.00069
NM_031407.7(HUWE1):c.12650-40T>C rs368134494 0.00061
NM_031407.7(HUWE1):c.2320-22T>A rs201870800 0.00059
NM_031407.7(HUWE1):c.9213T>C (p.Arg3071=) rs112038748 0.00058
NM_031407.7(HUWE1):c.11451C>T (p.Pro3817=) rs146409405 0.00057
NM_031407.7(HUWE1):c.1242+4C>T rs377286362 0.00054
NM_031407.7(HUWE1):c.8298A>G (p.Gln2766=) rs202214456 0.00053
NM_031407.7(HUWE1):c.12649+22C>G rs145617440 0.00052
NM_031407.7(HUWE1):c.5885-8T>C rs146431063 0.00052
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00050
NM_031407.7(HUWE1):c.1957+39T>G rs146396638 0.00047
NM_031407.7(HUWE1):c.8206+64C>G rs368521783 0.00045
NM_031407.7(HUWE1):c.2784A>G (p.Gln928=) rs148400203 0.00043
NM_031407.7(HUWE1):c.8750+31A>C rs201400423 0.00043
NM_031407.7(HUWE1):c.-24-27A>G rs368604606 0.00042
NM_031407.7(HUWE1):c.9432C>G (p.Arg3144=) rs76351631 0.00039
NM_031407.7(HUWE1):c.12426-42C>G rs199784760 0.00038
NM_031407.7(HUWE1):c.9097-32A>T rs111394245 0.00034
NM_031407.7(HUWE1):c.10497C>T (p.Ser3499=) rs374436582 0.00032
NM_031407.7(HUWE1):c.2050-9G>T rs377186422 0.00031
NM_031407.7(HUWE1):c.11403G>A (p.Ala3801=) rs373456806 0.00030
NM_031407.7(HUWE1):c.11586G>A (p.Glu3862=) rs140165465 0.00029
NM_031407.7(HUWE1):c.352-17C>G rs371300686 0.00029
NM_031407.7(HUWE1):c.694-21A>G rs140302991 0.00027
NM_031407.7(HUWE1):c.7916-52A>C rs185822455 0.00026
NM_031407.7(HUWE1):c.7737-34A>C rs6638401 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_031407.7(HUWE1):c.12672G>A (p.Ala4224=) rs367851321 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_031407.7(HUWE1):c.10611C>G (p.Pro3537=) rs370282010 0.00023
NM_031407.7(HUWE1):c.12762G>A (p.Leu4254=) rs143818136 0.00022
NM_031407.7(HUWE1):c.1489+49C>T rs186947005 0.00022
NM_031407.7(HUWE1):c.12330C>T (p.Val4110=) rs375367345 0.00020
NM_031407.7(HUWE1):c.1673-12A>C rs200109682 0.00020
NM_031407.7(HUWE1):c.6525-41G>A rs377564086 0.00018
NM_031407.7(HUWE1):c.10593G>A (p.Ser3531=) rs374253424 0.00015
NM_031407.7(HUWE1):c.12137+17G>A rs782663067 0.00015
NM_031407.7(HUWE1):c.411C>G (p.Leu137=) rs138967897 0.00015
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_031407.7(HUWE1):c.8548A>T (p.Ser2850Cys) rs376473006 0.00015
NM_031407.7(HUWE1):c.10261A>T (p.Thr3421Ser) rs781983186 0.00014
NM_031407.7(HUWE1):c.12532-34C>G rs782793306 0.00014
NM_031407.7(HUWE1):c.3591A>G (p.Glu1197=) rs782740620 0.00014
NM_031407.7(HUWE1):c.9015G>A (p.Ala3005=) rs145503240 0.00013
NM_031407.7(HUWE1):c.10824C>G (p.Leu3608=) rs191407530 0.00012
NM_031407.7(HUWE1):c.8742T>G (p.Pro2914=) rs782554995 0.00011
NM_031407.7(HUWE1):c.5938C>T (p.Leu1980=) rs782654707 0.00010
NM_031407.7(HUWE1):c.10809C>T (p.Asn3603=) rs201891783 0.00009
NM_031407.7(HUWE1):c.2216A>G (p.Gln739Arg) rs782430909 0.00009
NM_031407.7(HUWE1):c.4615-37A>G rs781988403 0.00009
NM_031407.7(HUWE1):c.5586C>T (p.Leu1862=) rs142982950 0.00009
NM_031407.7(HUWE1):c.72C>G (p.Asp24Glu) rs375073885 0.00009
NM_031407.7(HUWE1):c.9010T>C (p.Ser3004Pro) rs782367962 0.00009
NM_031407.7(HUWE1):c.9797A>G (p.Asn3266Ser) rs201752906 0.00009
NM_031407.7(HUWE1):c.9920G>C (p.Gly3307Ala) rs148122817 0.00009
NM_031407.7(HUWE1):c.12650-6C>T rs374227391 0.00008
NM_031407.7(HUWE1):c.3114C>T (p.Ile1038=) rs781848587 0.00008
NM_031407.7(HUWE1):c.6283A>C (p.Thr2095Pro) rs960157635 0.00008
NM_031407.7(HUWE1):c.9486C>T (p.Asn3162=) rs150660551 0.00008
NM_031407.7(HUWE1):c.10671G>A (p.Ala3557=) rs377645670 0.00007
NM_031407.7(HUWE1):c.11477-6C>T rs1269602767 0.00007
NM_031407.7(HUWE1):c.4462-36C>T rs201974714 0.00007
NM_031407.7(HUWE1):c.4527C>T (p.Thr1509=) rs368416687 0.00007
NM_031407.7(HUWE1):c.9357C>T (p.Ser3119=) rs143862848 0.00007
NM_031407.7(HUWE1):c.11386T>A (p.Ser3796Thr) rs377447090 0.00006
NM_031407.7(HUWE1):c.12309C>T (p.His4103=) rs782042293 0.00006
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_031407.7(HUWE1):c.6606G>A (p.Ala2202=) rs782721322 0.00006
NM_031407.7(HUWE1):c.9576A>T (p.Leu3192=) rs141901327 0.00006
NM_031407.7(HUWE1):c.10459A>G (p.Thr3487Ala) rs781796838 0.00005
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00005
NM_031407.7(HUWE1):c.10929C>T (p.Ala3643=) rs1326564724 0.00005
NM_031407.7(HUWE1):c.10997T>C (p.Leu3666Pro) rs140812928 0.00005
NM_031407.7(HUWE1):c.2614C>A (p.Arg872=) rs782695696 0.00005
NM_031407.7(HUWE1):c.2655C>T (p.Leu885=) rs1556995026 0.00005
NM_031407.7(HUWE1):c.3294G>A (p.Ala1098=) rs782368092 0.00005
NM_031407.7(HUWE1):c.4006A>G (p.Met1336Val) rs782123207 0.00005
NM_031407.7(HUWE1):c.5373T>C (p.Tyr1791=) rs782516736 0.00005
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=) rs782202317 0.00005
NM_031407.7(HUWE1):c.7938A>G (p.Thr2646=) rs1379752152 0.00005
NM_031407.7(HUWE1):c.10950C>T (p.Leu3650=) rs151180939 0.00004
NM_031407.7(HUWE1):c.11473A>G (p.Ile3825Val) rs201536543 0.00004
NM_031407.7(HUWE1):c.11481C>T (p.Ser3827=) rs782419058 0.00004
NM_031407.7(HUWE1):c.12354A>G (p.Val4118=) rs371060814 0.00004
NM_031407.7(HUWE1):c.1416G>A (p.Pro472=) rs145017919 0.00004
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) rs145143264 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_031407.7(HUWE1):c.4983A>G (p.Gln1661=) rs376523271 0.00004
NM_031407.7(HUWE1):c.6272A>G (p.Asn2091Ser) rs781858310 0.00004
NM_031407.7(HUWE1):c.795T>C (p.His265=) rs782644703 0.00004
NM_031407.7(HUWE1):c.11477-4C>T rs782015963 0.00003
NM_031407.7(HUWE1):c.11632+13C>T rs781937768 0.00003
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.1673-29G>A rs201998952 0.00003
NM_031407.7(HUWE1):c.1869G>C (p.Gln623His) rs149955783 0.00003
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=) rs782435043 0.00003
NM_031407.7(HUWE1):c.5975G>A (p.Arg1992Gln) rs199846544 0.00003
NM_031407.7(HUWE1):c.6525-20T>C rs782445167 0.00003
NM_031407.7(HUWE1):c.7030-12A>G rs782294027 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.10614G>A (p.Thr3538=) rs138042974 0.00002
NM_031407.7(HUWE1):c.11211G>A (p.Thr3737=) rs375030666 0.00002
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.11985T>C (p.Asp3995=) rs781856800 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 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.13023-36T>C rs199736049 0.00002
NM_031407.7(HUWE1):c.1411T>C (p.Cys471Arg) rs782333957 0.00002
NM_031407.7(HUWE1):c.2703C>T (p.Ala901=) rs782410329 0.00002
NM_031407.7(HUWE1):c.3291C>T (p.Ala1097=) rs947688996 0.00002
NM_031407.7(HUWE1):c.4869C>T (p.Arg1623=) rs1166240247 0.00002
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr) rs782688724 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.6168A>G (p.Lys2056=) rs782157157 0.00002
NM_031407.7(HUWE1):c.6852A>G (p.Gln2284=) rs782557931 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.8964G>A (p.Gln2988=) rs781914947 0.00002
NM_031407.7(HUWE1):c.9981A>G (p.Gln3327=) rs1372957151 0.00002
NM_031407.7(HUWE1):c.10035+22C>T rs782244693 0.00001
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr) rs782307186 0.00001
NM_031407.7(HUWE1):c.10221C>T (p.Ser3407=) rs781788404 0.00001
NM_031407.7(HUWE1):c.10470A>G (p.Thr3490=) rs1192210543 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.10964G>A (p.Arg3655Gln) rs375143574 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.1483A>G (p.Met495Val) rs782641553 0.00001
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) rs781821524 0.00001
NM_031407.7(HUWE1):c.1707A>G (p.Glu569=) rs1557008533 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.2355A>G (p.Thr785=) rs782555680 0.00001
NM_031407.7(HUWE1):c.2628C>T (p.Cys876=) rs781888845 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.3520C>G (p.Leu1174Val) rs782356520 0.00001
NM_031407.7(HUWE1):c.4095+18C>G rs1481697113 0.00001
NM_031407.7(HUWE1):c.4231C>T (p.Arg1411Trp) rs1325872946 0.00001
NM_031407.7(HUWE1):c.4825-7T>C rs1556972162 0.00001
NM_031407.7(HUWE1):c.4825-9T>C rs1556972169 0.00001
NM_031407.7(HUWE1):c.4890C>T (p.Tyr1630=) rs373770126 0.00001
NM_031407.7(HUWE1):c.5325G>T (p.Leu1775Phe) rs1556970312 0.00001
NM_031407.7(HUWE1):c.568-8A>T rs782788734 0.00001
NM_031407.7(HUWE1):c.5840A>G (p.Tyr1947Cys) rs1483703467 0.00001
NM_031407.7(HUWE1):c.5884+50T>A rs782477464 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.6707+6A>G rs782002122 0.00001
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr) rs2062442667 0.00001
NM_031407.7(HUWE1):c.7096A>G (p.Thr2366Ala) rs1365982862 0.00001
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn) rs782531338 0.00001
NM_031407.7(HUWE1):c.762+42T>C rs191572518 0.00001
NM_031407.7(HUWE1):c.763-26A>G rs782392977 0.00001
NM_031407.7(HUWE1):c.8058G>A (p.Leu2686=) rs1244846258 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.9014C>T (p.Ala3005Val) rs782220167 0.00001
NM_031407.7(HUWE1):c.9386-21T>G rs782404422 0.00001
NM_031407.7(HUWE1):c.9776G>A (p.Cys3259Tyr) rs1556926290 0.00001
NM_031407.7(HUWE1):c.9802C>T (p.Pro3268Ser) rs1045935059 0.00001
NM_031407.7(HUWE1):c.9936C>T (p.Thr3312=) rs782819452 0.00001
GRCh37/hg19 Xp11.22(chrX:53709892-53924270)x3
NC_000023.10:g.53672690del rs1556502214
NM_031407.7(HUWE1):c.10005C>T (p.His3335=)
NM_031407.7(HUWE1):c.10006G>A (p.Val3336Ile)
NM_031407.7(HUWE1):c.10026A>G (p.Gln3342=)
NM_031407.7(HUWE1):c.10027T>C (p.Leu3343=)
NM_031407.7(HUWE1):c.1002T>C (p.Ile334=)
NM_031407.7(HUWE1):c.10035+19A>G
NM_031407.7(HUWE1):c.10035+75_10035+83del rs1484371039
NM_031407.7(HUWE1):c.10036-4G>C
NM_031407.7(HUWE1):c.10036-6C>T
NM_031407.7(HUWE1):c.10036-9T>A
NM_031407.7(HUWE1):c.10044C>G (p.Pro3348=)
NM_031407.7(HUWE1):c.10064G>A (p.Arg3355Gln) rs926329085
NM_031407.7(HUWE1):c.10070A>G (p.Lys3357Arg)
NM_031407.7(HUWE1):c.10075A>G (p.Thr3359Ala)
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.10243G>A (p.Ala3415Thr)
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.10290A>G (p.Pro3430=)
NM_031407.7(HUWE1):c.10320C>T (p.His3440=)
NM_031407.7(HUWE1):c.10329C>T (p.Ile3443=)
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.10434C>T (p.Ser3478=) rs782089185
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.10491C>T (p.Ala3497=)
NM_031407.7(HUWE1):c.10499C>T (p.Thr3500Ile)
NM_031407.7(HUWE1):c.10502C>T (p.Thr3501Met) rs782741075
NM_031407.7(HUWE1):c.10503G>A (p.Thr3501=)
NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala) rs199693166
NM_031407.7(HUWE1):c.10513C>T (p.Pro3505Ser)
NM_031407.7(HUWE1):c.10521A>C (p.Ala3507=)
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.10605T>A (p.Thr3535=)
NM_031407.7(HUWE1):c.10618G>C (p.Ala3540Pro)
NM_031407.7(HUWE1):c.10636+6T>A rs2147212563
NM_031407.7(HUWE1):c.10637-7C>T
NM_031407.7(HUWE1):c.10679G>C (p.Ser3560Thr)
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.10759-13T>G
NM_031407.7(HUWE1):c.10794A>G (p.Leu3598=)
NM_031407.7(HUWE1):c.10828C>T (p.Arg3610Trp)
NM_031407.7(HUWE1):c.10830G>T (p.Arg3610=)
NM_031407.7(HUWE1):c.10883G>A (p.Arg3628His)
NM_031407.7(HUWE1):c.10916-14C>T
NM_031407.7(HUWE1):c.10971A>G (p.Gln3657=) rs782455645
NM_031407.7(HUWE1):c.11018C>T (p.Thr3673Ile) rs1556921577
NM_031407.7(HUWE1):c.11048+3G>A
NM_031407.7(HUWE1):c.11057T>C (p.Met3686Thr) rs2147136719
NM_031407.7(HUWE1):c.11071G>A (p.Val3691Ile)
NM_031407.7(HUWE1):c.1114+13G>A
NM_031407.7(HUWE1):c.1114+17A>C
NM_031407.7(HUWE1):c.11157C>T (p.Thr3719=)
NM_031407.7(HUWE1):c.11166CTT[1] (p.Phe3723del)
NM_031407.7(HUWE1):c.11201G>A (p.Arg3734Gln)
NM_031407.7(HUWE1):c.11212C>T (p.Arg3738Cys)
NM_031407.7(HUWE1):c.1124T>C (p.Met375Thr)
NM_031407.7(HUWE1):c.11252-15T>C
NM_031407.7(HUWE1):c.11252-5C>T
NM_031407.7(HUWE1):c.11260G>A (p.Gly3754Ser)
NM_031407.7(HUWE1):c.11268C>T (p.Gly3756=)
NM_031407.7(HUWE1):c.1131A>G (p.Pro377=)
NM_031407.7(HUWE1):c.11332A>T (p.Met3778Leu) rs782080178
NM_031407.7(HUWE1):c.11339G>A (p.Arg3780His)
NM_031407.7(HUWE1):c.11380-11C>T
NM_031407.7(HUWE1):c.11380-12C>T
NM_031407.7(HUWE1):c.11382G>C (p.Ser3794=)
NM_031407.7(HUWE1):c.11401G>T (p.Ala3801Ser)
NM_031407.7(HUWE1):c.11418G>A (p.Glu3806=)
NM_031407.7(HUWE1):c.11461G>A (p.Asp3821Asn)
NM_031407.7(HUWE1):c.11468A>G (p.Gln3823Arg)
NM_031407.7(HUWE1):c.11476+15del
NM_031407.7(HUWE1):c.11476+8C>T
NM_031407.7(HUWE1):c.11497G>C (p.Gly3833Arg) rs782335134
NM_031407.7(HUWE1):c.11529G>A (p.Glu3843=)
NM_031407.7(HUWE1):c.11562C>A (p.Asp3854Glu)
NM_031407.7(HUWE1):c.11575A>G (p.Met3859Val) rs2061255061
NM_031407.7(HUWE1):c.11632+15A>G
NM_031407.7(HUWE1):c.11633-241del rs34154526
NM_031407.7(HUWE1):c.11633-264dup rs34154526
NM_031407.7(HUWE1):c.11649C>T (p.Val3883=)
NM_031407.7(HUWE1):c.11667C>A (p.Val3889=)
NM_031407.7(HUWE1):c.11667C>G (p.Val3889=)
NM_031407.7(HUWE1):c.11696C>T (p.Pro3899Leu)
NM_031407.7(HUWE1):c.11764C>T (p.Pro3922Ser)
NM_031407.7(HUWE1):c.11781G>A (p.Thr3927=)
NM_031407.7(HUWE1):c.11796C>T (p.Asp3932=)
NM_031407.7(HUWE1):c.11809C>G (p.Arg3937Gly) rs2146961040
NM_031407.7(HUWE1):c.11847C>T (p.Pro3949=)
NM_031407.7(HUWE1):c.11849C>G (p.Pro3950Arg) rs2061211944
NM_031407.7(HUWE1):c.11878+109_11878+112del rs1360869995
NM_031407.7(HUWE1):c.11878+110GT[13] rs781962529
NM_031407.7(HUWE1):c.11878+110GT[15] rs781962529
NM_031407.7(HUWE1):c.11878+110_11878+111insGAGT rs1556915582
NM_031407.7(HUWE1):c.11878+111T>A rs3008197
NM_031407.7(HUWE1):c.11878+112_11878+113insGA rs879987418
NM_031407.7(HUWE1):c.11878+112_11878+113insGAGA rs879987418
NM_031407.7(HUWE1):c.11878+112_11878+113insGAGAGA rs879987418
NM_031407.7(HUWE1):c.11878+7G>C
NM_031407.7(HUWE1):c.11878+83AG[12] rs782578229
NM_031407.7(HUWE1):c.11878+83AG[15] rs782578229
NM_031407.7(HUWE1):c.11878+83AG[16] rs782578229
NM_031407.7(HUWE1):c.11878+83AG[17] rs782578229
NM_031407.7(HUWE1):c.11879-10C>T
NM_031407.7(HUWE1):c.11879-5C>T
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.11952C>G (p.Val3984=)
NM_031407.7(HUWE1):c.11996+6T>C
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12038G>A (p.Arg4013Gln)
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
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.12226C>T (p.Pro4076Ser) rs2061073406
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.12342G>C (p.Val4114=)
NM_031407.7(HUWE1):c.1237T>C (p.Leu413=)
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.1242+10dup rs781865515
NM_031407.7(HUWE1):c.1242+27_1242+28del rs781865515
NM_031407.7(HUWE1):c.1242+28del rs781865515
NM_031407.7(HUWE1):c.1243-6T>C
NM_031407.7(HUWE1):c.1243-7G>A
NM_031407.7(HUWE1):c.12436A>G (p.Met4146Val) rs2061057437
NM_031407.7(HUWE1):c.12463C>G (p.Gln4155Glu) rs2146868509
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12478C>A (p.Leu4160Met)
NM_031407.7(HUWE1):c.12499A>G (p.Thr4167Ala) rs2146867886
NM_031407.7(HUWE1):c.12511G>T (p.Asp4171Tyr) rs1569398624
NM_031407.7(HUWE1):c.12514C>G (p.Leu4172Val)
NM_031407.7(HUWE1):c.12531+204_12531+205dup rs34675759
NM_031407.7(HUWE1):c.12531+204dup rs34675759
NM_031407.7(HUWE1):c.12531+224del rs34675759
NM_031407.7(HUWE1):c.12531+43G>T
NM_031407.7(HUWE1):c.12532-3T>C
NM_031407.7(HUWE1):c.12532-4C>G
NM_031407.7(HUWE1):c.12532-7G>T
NM_031407.7(HUWE1):c.12532-9T>C
NM_031407.7(HUWE1):c.12560G>A (p.Arg4187His) rs1556911750
NM_031407.7(HUWE1):c.12579G>A (p.Gly4193=)
NM_031407.7(HUWE1):c.12603G>C (p.Glu4201Asp)
NM_031407.7(HUWE1):c.1260C>T (p.Gly420=)
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.12649+229T>C rs151261147
NM_031407.7(HUWE1):c.12650-13G>C
NM_031407.7(HUWE1):c.12650-15T>C
NM_031407.7(HUWE1):c.12650G>C (p.Gly4217Ala) rs1556910261
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12680T>C (p.Leu4227Ser) rs1057517893
NM_031407.7(HUWE1):c.12691T>C (p.Tyr4231His) rs1064793631
NM_031407.7(HUWE1):c.12700A>G (p.Ile4234Val)
NM_031407.7(HUWE1):c.1274A>T (p.Gln425Leu)
NM_031407.7(HUWE1):c.12774C>T (p.Asp4258=) rs1569392872
NM_031407.7(HUWE1):c.12777C>A (p.Ile4259=)
NM_031407.7(HUWE1):c.12782A>C (p.Asp4261Ala)
NM_031407.7(HUWE1):c.1281A>G (p.Thr427=)
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.12831+14G>A
NM_031407.7(HUWE1):c.12832-11C>T
NM_031407.7(HUWE1):c.12832-24G>A rs182498023
NM_031407.7(HUWE1):c.12832-4A>G
NM_031407.7(HUWE1):c.12856C>T (p.Arg4286Cys)
NM_031407.7(HUWE1):c.12864C>T (p.Phe4288=)
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.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.12903A>C (p.Thr4301=)
NM_031407.7(HUWE1):c.12903A>G (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.12929G>A (p.Gly4310Asp) rs2146746826
NM_031407.7(HUWE1):c.12943G>A (p.Glu4315Lys)
NM_031407.7(HUWE1):c.12946G>C (p.Gly4316Arg)
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.12990G>C (p.Arg4330Ser) rs1057521722
NM_031407.7(HUWE1):c.12992C>T (p.Ser4331Phe) rs2146745211
NM_031407.7(HUWE1):c.12996A>C (p.Thr4332=) rs1602465094
NM_031407.7(HUWE1):c.13001G>A (p.Arg4334His)
NM_031407.7(HUWE1):c.13022+12G>A
NM_031407.7(HUWE1):c.13022+17G>A
NM_031407.7(HUWE1):c.13022+17G>C
NM_031407.7(HUWE1):c.13023-10_13023-8del
NM_031407.7(HUWE1):c.13062G>A (p.Glu4354=)
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.1383+2TAT[2] rs782154103
NM_031407.7(HUWE1):c.1383+7T>C
NM_031407.7(HUWE1):c.1384-15T>G
NM_031407.7(HUWE1):c.1384-50= rs424024
NM_031407.7(HUWE1):c.1384-52= rs424022
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.144+18C>T
NM_031407.7(HUWE1):c.145-3C>T
NM_031407.7(HUWE1):c.1467G>A (p.Glu489=)
NM_031407.7(HUWE1):c.1489+13T>C
NM_031407.7(HUWE1):c.1489+18A>C
NM_031407.7(HUWE1):c.1528T>C (p.Ser510Pro) rs1057524560
NM_031407.7(HUWE1):c.1582A>G (p.Ile528Val) rs2148965520
NM_031407.7(HUWE1):c.1592-187= rs149036325
NM_031407.7(HUWE1):c.1606C>T (p.Leu536=)
NM_031407.7(HUWE1):c.1616C>G (p.Ser539Cys)
NM_031407.7(HUWE1):c.1627A>G (p.Ile543Val) rs2066367374
NM_031407.7(HUWE1):c.1656A>G (p.Pro552=)
NM_031407.7(HUWE1):c.1671A>T (p.Leu557=)
NM_031407.7(HUWE1):c.1672+132= rs155440
NM_031407.7(HUWE1):c.1673-18T>C
NM_031407.7(HUWE1):c.1673-3dup
NM_031407.7(HUWE1):c.1686G>A (p.Val562=)
NM_031407.7(HUWE1):c.1698A>G (p.Val566=)
NM_031407.7(HUWE1):c.171G>T (p.Leu57=) rs982748296
NM_031407.7(HUWE1):c.1722C>T (p.Ser574=)
NM_031407.7(HUWE1):c.1773C>A (p.Ile591=)
NM_031407.7(HUWE1):c.1779+13T>G
NM_031407.7(HUWE1):c.1779+2T>C rs2148854504
NM_031407.7(HUWE1):c.1780-16T>G rs2148851437
NM_031407.7(HUWE1):c.1780-18A>T
NM_031407.7(HUWE1):c.1780-3T>C
NM_031407.7(HUWE1):c.1780-5T>G
NM_031407.7(HUWE1):c.1783C>T (p.Pro595Ser)
NM_031407.7(HUWE1):c.178C>T (p.Arg60Cys)
NM_031407.7(HUWE1):c.1821A>G (p.Val607=)
NM_031407.7(HUWE1):c.1875G>C (p.Gln625His)
NM_031407.7(HUWE1):c.1883A>C (p.Glu628Ala) rs2148850658
NM_031407.7(HUWE1):c.1957+11A>C
NM_031407.7(HUWE1):c.1957+5G>A rs929965028
NM_031407.7(HUWE1):c.1958-255dup rs199575386
NM_031407.7(HUWE1):c.197C>T (p.Ala66Val)
NM_031407.7(HUWE1):c.2032A>G (p.Thr678Ala)
NM_031407.7(HUWE1):c.2050-8C>T rs1603105426
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.2148A>G (p.Pro716=)
NM_031407.7(HUWE1):c.2163C>T (p.Ala721=)
NM_031407.7(HUWE1):c.2165C>A (p.Ala722Glu) rs2148818485
NM_031407.7(HUWE1):c.2166A>C (p.Ala722=)
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.2262-11T>A
NM_031407.7(HUWE1):c.2272A>G (p.Thr758Ala) rs2148720787
NM_031407.7(HUWE1):c.2320-4C>G rs2148705916
NM_031407.7(HUWE1):c.2456C>G (p.Ala819Gly) rs2148705177
NM_031407.7(HUWE1):c.2467G>T (p.Ala823Ser)
NM_031407.7(HUWE1):c.2538T>A (p.Leu846=)
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.2616A>G (p.Arg872=)
NM_031407.7(HUWE1):c.2635A>G (p.Asn879Asp)
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
NM_031407.7(HUWE1):c.2677C>T (p.Leu893=)
NM_031407.7(HUWE1):c.2683G>A (p.Ala895Thr)
NM_031407.7(HUWE1):c.2742+14T>C
NM_031407.7(HUWE1):c.2742+16G>C
NM_031407.7(HUWE1):c.2742+17G>C
NM_031407.7(HUWE1):c.2742+18G>T
NM_031407.7(HUWE1):c.2743-10A>G
NM_031407.7(HUWE1):c.2743-65dup rs782483263
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.2772G>A (p.Gln924=)
NM_031407.7(HUWE1):c.2820A>G (p.Leu940=)
NM_031407.7(HUWE1):c.2830C>T (p.Leu944=)
NM_031407.7(HUWE1):c.2877-195dup rs1209240887
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.2971+20A>C
NM_031407.7(HUWE1):c.2972-12A>G
NM_031407.7(HUWE1):c.2972-20C>T
NM_031407.7(HUWE1):c.2975G>T (p.Gly992Val) rs2148590113
NM_031407.7(HUWE1):c.2991A>G (p.Ala997=)
NM_031407.7(HUWE1):c.3008C>T (p.Ala1003Val) rs2064749943
NM_031407.7(HUWE1):c.301G>A (p.Ala101Thr)
NM_031407.7(HUWE1):c.303C>G (p.Ala101=)
NM_031407.7(HUWE1):c.3088T>A (p.Ser1030Thr)
NM_031407.7(HUWE1):c.3115A>C (p.Thr1039Pro)
NM_031407.7(HUWE1):c.3149A>G (p.Lys1050Arg)
NM_031407.7(HUWE1):c.314A>T (p.Glu105Val) rs1057521796
NM_031407.7(HUWE1):c.3156G>T (p.Leu1052Phe)
NM_031407.7(HUWE1):c.3163+9T>C rs144602282
NM_031407.7(HUWE1):c.3192T>G (p.Ala1064=) rs1602968408
NM_031407.7(HUWE1):c.3271A>C (p.Thr1091Pro)
NM_031407.7(HUWE1):c.3271A>G (p.Thr1091Ala) rs2148504032
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.3295C>A (p.Arg1099=)
NM_031407.7(HUWE1):c.3296G>A (p.Arg1099Gln)
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.3330T>G (p.Thr1110=)
NM_031407.7(HUWE1):c.3349C>T (p.Pro1117Ser)
NM_031407.7(HUWE1):c.3424C>A (p.Leu1142Met)
NM_031407.7(HUWE1):c.3429T>C (p.Phe1143=)
NM_031407.7(HUWE1):c.3489C>G (p.His1163Gln) rs2148491261
NM_031407.7(HUWE1):c.3493G>T (p.Ala1165Ser)
NM_031407.7(HUWE1):c.3495T>C (p.Ala1165=)
NM_031407.7(HUWE1):c.3503+11A>C
NM_031407.7(HUWE1):c.3503+19C>T
NM_031407.7(HUWE1):c.3504-14T>G
NM_031407.7(HUWE1):c.3504-323A>G rs266784
NM_031407.7(HUWE1):c.351+16G>C
NM_031407.7(HUWE1):c.352-257C>T rs1482159553
NM_031407.7(HUWE1):c.352-285A>T rs80143497
NM_031407.7(HUWE1):c.352-285del rs61113955
NM_031407.7(HUWE1):c.352-287A>G rs1246834896
NM_031407.7(HUWE1):c.352-287A>T rs1246834896
NM_031407.7(HUWE1):c.352-287del rs61456936
NM_031407.7(HUWE1):c.3526A>G (p.Met1176Val)
NM_031407.7(HUWE1):c.3534T>C (p.Gly1178=)
NM_031407.7(HUWE1):c.371C>T (p.Ala124Val)
NM_031407.7(HUWE1):c.3973-14C>T
NM_031407.7(HUWE1):c.3973-5_3973-2del rs782250049
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.4096-6C>T
NM_031407.7(HUWE1):c.4134A>G (p.Ala1378=) rs1602928904
NM_031407.7(HUWE1):c.4159A>G (p.Ile1387Val) rs2148424601
NM_031407.7(HUWE1):c.4165A>G (p.Met1389Val)
NM_031407.7(HUWE1):c.4180G>A (p.Glu1394Lys)
NM_031407.7(HUWE1):c.4183T>G (p.Ser1395Ala)
NM_031407.7(HUWE1):c.4191+17G>A
NM_031407.7(HUWE1):c.4191+7A>G
NM_031407.7(HUWE1):c.4191G>A (p.Glu1397=)
NM_031407.7(HUWE1):c.4192-10C>T
NM_031407.7(HUWE1):c.4192-15del
NM_031407.7(HUWE1):c.4206G>A (p.Arg1402=)
NM_031407.7(HUWE1):c.4251A>G (p.Glu1417=)
NM_031407.7(HUWE1):c.4289C>T (p.Pro1430Leu)
NM_031407.7(HUWE1):c.4290G>A (p.Pro1430=)
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.4359G>A (p.Glu1453=) rs1602922671
NM_031407.7(HUWE1):c.4362G>C (p.Leu1454=)
NM_031407.7(HUWE1):c.4432G>A (p.Asp1478Asn)
NM_031407.7(HUWE1):c.4446G>A (p.Lys1482=)
NM_031407.7(HUWE1):c.4457A>G (p.Asn1486Ser)
NM_031407.7(HUWE1):c.4462-10G>T rs1556975560
NM_031407.7(HUWE1):c.4462-11dup
NM_031407.7(HUWE1):c.446C>T (p.Thr149Ile)
NM_031407.7(HUWE1):c.449G>A (p.Arg150His) rs2067906873
NM_031407.7(HUWE1):c.4518C>T (p.Asp1506=)
NM_031407.7(HUWE1):c.4561C>T (p.Pro1521Ser) rs2148391292
NM_031407.7(HUWE1):c.4572C>G (p.Ser1524=)
NM_031407.7(HUWE1):c.46-219dup rs1557037695
NM_031407.7(HUWE1):c.46-234_46-233insTG rs201540143
NM_031407.7(HUWE1):c.46-555_46-552del
NM_031407.7(HUWE1):c.4602G>A (p.Thr1534=)
NM_031407.7(HUWE1):c.4614+11G>A
NM_031407.7(HUWE1):c.4614+303dup rs1200519263
NM_031407.7(HUWE1):c.4615-7C>G
NM_031407.7(HUWE1):c.4635T>C (p.Ala1545=)
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.4764C>T (p.Leu1588=)
NM_031407.7(HUWE1):c.4782A>C (p.Glu1594Asp)
NM_031407.7(HUWE1):c.4787C>T (p.Thr1596Ile)
NM_031407.7(HUWE1):c.4800A>C (p.Ser1600=)
NM_031407.7(HUWE1):c.4821T>C (p.Thr1607=)
NM_031407.7(HUWE1):c.4824+8dup
NM_031407.7(HUWE1):c.4825-20C>G
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.492A>G (p.Gln164=)
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_031407.7(HUWE1):c.4977G>A (p.Thr1659=)
NM_031407.7(HUWE1):c.5001+14C>T
NM_031407.7(HUWE1):c.5001+18A>C
NM_031407.7(HUWE1):c.5002-17T>A
NM_031407.7(HUWE1):c.5011G>A (p.Glu1671Lys) rs2063759438
NM_031407.7(HUWE1):c.5016A>G (p.Thr1672=)
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=) rs782240883
NM_031407.7(HUWE1):c.5028C>T (p.Arg1676=)
NM_031407.7(HUWE1):c.504+12del
NM_031407.7(HUWE1):c.504+5G>A
NM_031407.7(HUWE1):c.505-19_505-18del
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.5161+15T>C
NM_031407.7(HUWE1):c.5162-18T>A
NM_031407.7(HUWE1):c.5165C>A (p.Thr1722Asn)
NM_031407.7(HUWE1):c.5166C>T (p.Thr1722=)
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)
NM_031407.7(HUWE1):c.5168C>T (p.Pro1723Leu)
NM_031407.7(HUWE1):c.5169T>C (p.Pro1723=)
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.5226C>G (p.Ile1742Met)
NM_031407.7(HUWE1):c.5226C>T (p.Ile1742=)
NM_031407.7(HUWE1):c.5313C>T (p.Asp1771=)
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.5520+252del rs1229735699
NM_031407.7(HUWE1):c.5521-114_5521-109del rs781840396
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.5559T>C (p.Thr1853=)
NM_031407.7(HUWE1):c.5599A>G (p.Ile1867Val) rs2148240397
NM_031407.7(HUWE1):c.559C>G (p.His187Asp)
NM_031407.7(HUWE1):c.5631C>T (p.Ala1877=)
NM_031407.7(HUWE1):c.5648A>G (p.Asp1883Gly)
NM_031407.7(HUWE1):c.5661A>G (p.Glu1887=)
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.567+211del rs782256000
NM_031407.7(HUWE1):c.568-11dup rs112428926
NM_031407.7(HUWE1):c.568-15del
NM_031407.7(HUWE1):c.568-18G>C
NM_031407.7(HUWE1):c.568-18_568-9del
NM_031407.7(HUWE1):c.568-19T>C
NM_031407.7(HUWE1):c.5695G>T (p.Ala1899Ser)
NM_031407.7(HUWE1):c.5707T>C (p.Ser1903Pro)
NM_031407.7(HUWE1):c.5721A>C (p.Ser1907=)
NM_031407.7(HUWE1):c.5784C>A (p.Thr1928=)
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.5885-10G>A
NM_031407.7(HUWE1):c.5885-12del
NM_031407.7(HUWE1):c.5885-50A>T rs140792428
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.5987G>A (p.Arg1996His)
NM_031407.7(HUWE1):c.6030+18G>A
NM_031407.7(HUWE1):c.6031-14TTC[3] rs782420395
NM_031407.7(HUWE1):c.6054T>C (p.Gly2018=)
NM_031407.7(HUWE1):c.6055G>A (p.Ala2019Thr)
NM_031407.7(HUWE1):c.6169C>G (p.Gln2057Glu)
NM_031407.7(HUWE1):c.6180G>A (p.Lys2060=)
NM_031407.7(HUWE1):c.6232T>G (p.Leu2078Val) rs1482548159
NM_031407.7(HUWE1):c.623C>T (p.Ala208Val)
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+18T>C
NM_031407.7(HUWE1):c.6312+7T>A
NM_031407.7(HUWE1):c.6313-10del
NM_031407.7(HUWE1):c.6313-19G>A
NM_031407.7(HUWE1):c.6322G>A (p.Val2108Met) rs2062736777
NM_031407.7(HUWE1):c.6330T>G (p.Ala2110=)
NM_031407.7(HUWE1):c.6362A>C (p.Gln2121Pro) rs1266542632
NM_031407.7(HUWE1):c.638A>G (p.Glu213Gly)
NM_031407.7(HUWE1):c.6408C>T (p.Leu2136=)
NM_031407.7(HUWE1):c.6426A>G (p.Ala2142=)
NM_031407.7(HUWE1):c.6434G>C (p.Gly2145Ala)
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.645+9G>A
NM_031407.7(HUWE1):c.646-159del rs202159674
NM_031407.7(HUWE1):c.646-19T>A
NM_031407.7(HUWE1):c.646-19T>C
NM_031407.7(HUWE1):c.646-9T>A
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031407.7(HUWE1):c.6484C>T (p.Arg2162Trp)
NM_031407.7(HUWE1):c.648_650del (p.Thr217del)
NM_031407.7(HUWE1):c.6493G>T (p.Ala2165Ser)
NM_031407.7(HUWE1):c.6524+13C>T
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.6585C>T (p.Ser2195=)
NM_031407.7(HUWE1):c.6633C>T (p.Asn2211=)
NM_031407.7(HUWE1):c.6664G>T (p.Val2222Phe) rs1057521730
NM_031407.7(HUWE1):c.6707+4A>G
NM_031407.7(HUWE1):c.6707G>A (p.Ser2236Asn)
NM_031407.7(HUWE1):c.6708-17_6708-16insAAA
NM_031407.7(HUWE1):c.6708-18_6708-13del
NM_031407.7(HUWE1):c.6708-5C>T
NM_031407.7(HUWE1):c.6722A>G (p.Asn2241Ser)
NM_031407.7(HUWE1):c.6731A>G (p.Asn2244Ser)
NM_031407.7(HUWE1):c.675C>T (p.His225=)
NM_031407.7(HUWE1):c.6777G>A (p.Gln2259=) rs1602678789
NM_031407.7(HUWE1):c.6792T>G (p.Phe2264Leu)
NM_031407.7(HUWE1):c.6805G>A (p.Ala2269Thr)
NM_031407.7(HUWE1):c.6810T>C (p.Ser2270=) rs1602678611
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.6881-20T>G
NM_031407.7(HUWE1):c.693+17A>T
NM_031407.7(HUWE1):c.694-16dup rs200857205
NM_031407.7(HUWE1):c.694-8del rs200857205
NM_031407.7(HUWE1):c.7062G>C (p.Glu2354Asp) rs2147709817
NM_031407.7(HUWE1):c.7066C>T (p.Leu2356Phe) rs1057521791
NM_031407.7(HUWE1):c.729T>C (p.Leu243=)
NM_031407.7(HUWE1):c.7507+19G>A
NM_031407.7(HUWE1):c.7507+9C>T
NM_031407.7(HUWE1):c.7508-13A>G
NM_031407.7(HUWE1):c.7508-4G>T
NM_031407.7(HUWE1):c.7508-7C>A
NM_031407.7(HUWE1):c.7512C>T (p.Asp2504=)
NM_031407.7(HUWE1):c.7513A>G (p.Ile2505Val)
NM_031407.7(HUWE1):c.7514T>C (p.Ile2505Thr)
NM_031407.7(HUWE1):c.7518C>T (p.Pro2506=)
NM_031407.7(HUWE1):c.7535T>G (p.Ile2512Ser)
NM_031407.7(HUWE1):c.753G>A (p.Lys251=) rs1603209463
NM_031407.7(HUWE1):c.7546C>T (p.His2516Tyr) rs1556939891
NM_031407.7(HUWE1):c.7605A>C (p.Ser2535=) rs2062225730
NM_031407.7(HUWE1):c.7627A>G (p.Ile2543Val) rs2062224983
NM_031407.7(HUWE1):c.763-18T>C
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.7737-7C>T
NM_031407.7(HUWE1):c.7807C>G (p.Arg2603Gly)
NM_031407.7(HUWE1):c.7810G>C (p.Ala2604Pro) rs868980495
NM_031407.7(HUWE1):c.7818C>G (p.Leu2606=)
NM_031407.7(HUWE1):c.7819C>T (p.Leu2607=)
NM_031407.7(HUWE1):c.7862A>G (p.Asp2621Gly)
NM_031407.7(HUWE1):c.7866G>A (p.Glu2622=)
NM_031407.7(HUWE1):c.7885C>A (p.His2629Asn) rs2147586269
NM_031407.7(HUWE1):c.7900G>A (p.Ala2634Thr)
NM_031407.7(HUWE1):c.7923G>A (p.Leu2641=)
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.7974C>T (p.Leu2658=)
NM_031407.7(HUWE1):c.8006-19T>G
NM_031407.7(HUWE1):c.8008G>C (p.Val2670Leu)
NM_031407.7(HUWE1):c.8023G>T (p.Val2675Phe)
NM_031407.7(HUWE1):c.8085A>G (p.Lys2695=)
NM_031407.7(HUWE1):c.8105C>T (p.Thr2702Ile)
NM_031407.7(HUWE1):c.8161-17A>G
NM_031407.7(HUWE1):c.8162G>A (p.Cys2721Tyr)
NM_031407.7(HUWE1):c.8202C>G (p.Leu2734=) rs2147509778
NM_031407.7(HUWE1):c.8206+6T>C
NM_031407.7(HUWE1):c.8207-18T>C
NM_031407.7(HUWE1):c.8207-7G>A rs1602611673
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
NM_031407.7(HUWE1):c.8214G>A (p.Thr2738=)
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.8258C>G (p.Ala2753Gly)
NM_031407.7(HUWE1):c.8263A>C (p.Thr2755Pro)
NM_031407.7(HUWE1):c.8303C>T (p.Ser2768Leu)
NM_031407.7(HUWE1):c.8310G>A (p.Gln2770=)
NM_031407.7(HUWE1):c.8323C>T (p.Pro2775Ser)
NM_031407.7(HUWE1):c.8392A>C (p.Thr2798Pro) rs781986018
NM_031407.7(HUWE1):c.8429G>T (p.Gly2810Val)
NM_031407.7(HUWE1):c.843G>A (p.Leu281=)
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.8495-11C>A
NM_031407.7(HUWE1):c.8495-16T>C
NM_031407.7(HUWE1):c.8495C>T (p.Thr2832Ile)
NM_031407.7(HUWE1):c.8496C>G (p.Thr2832=)
NM_031407.7(HUWE1):c.8509G>A (p.Glu2837Lys)
NM_031407.7(HUWE1):c.8517T>G (p.Ala2839=)
NM_031407.7(HUWE1):c.8607G>T (p.Glu2869Asp)
NM_031407.7(HUWE1):c.862+261= rs11317885
NM_031407.7(HUWE1):c.8631_8654del (p.Glu2881_Ser2888del)
NM_031407.7(HUWE1):c.8641G>C (p.Glu2881Gln)
NM_031407.7(HUWE1):c.867T>C (p.Tyr289=)
NM_031407.7(HUWE1):c.8693C>T (p.Ala2898Val)
NM_031407.7(HUWE1):c.8735A>G (p.Gln2912Arg) rs2147334334
NM_031407.7(HUWE1):c.8739A>G (p.Pro2913=)
NM_031407.7(HUWE1):c.8746G>A (p.Asp2916Asn)
NM_031407.7(HUWE1):c.8751-11A>G rs2061804195
NM_031407.7(HUWE1):c.8766C>T (p.Ser2922=)
NM_031407.7(HUWE1):c.8781C>T (p.Ser2927=)
NM_031407.7(HUWE1):c.8792C>G (p.Ser2931Cys) rs2147327392
NM_031407.7(HUWE1):c.8820C>T (p.Ser2940=)
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu) rs2147326587
NM_031407.7(HUWE1):c.8841G>A (p.Pro2947=)
NM_031407.7(HUWE1):c.8865A>G (p.Glu2955=)
NM_031407.7(HUWE1):c.8881+10G>A
NM_031407.7(HUWE1):c.8882-116A>T rs149262599
NM_031407.7(HUWE1):c.8882-3C>T
NM_031407.7(HUWE1):c.8905G>A (p.Asp2969Asn) rs1556928966
NM_031407.7(HUWE1):c.8926C>T (p.Leu2976=) rs1602589671
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.8952T>C (p.Val2984=)
NM_031407.7(HUWE1):c.8953C>T (p.Leu2985=)
NM_031407.7(HUWE1):c.8993C>G (p.Ala2998Gly)
NM_031407.7(HUWE1):c.8996C>T (p.Pro2999Leu) rs2147297862
NM_031407.7(HUWE1):c.9073C>T (p.Leu3025=)
NM_031407.7(HUWE1):c.9096+17G>T
NM_031407.7(HUWE1):c.9097-13T>G
NM_031407.7(HUWE1):c.9099A>G (p.Val3033=)
NM_031407.7(HUWE1):c.9165T>C (p.Pro3055=) rs1602587774
NM_031407.7(HUWE1):c.916A>G (p.Ile306Val)
NM_031407.7(HUWE1):c.9197C>T (p.Pro3066Leu)
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_031407.7(HUWE1):c.9279T>C (p.Ala3093=)
NM_031407.7(HUWE1):c.9309G>T (p.Arg3103=)
NM_031407.7(HUWE1):c.9347G>A (p.Ser3116Asn)
NM_031407.7(HUWE1):c.936C>T (p.Val312=)
NM_031407.7(HUWE1):c.9384G>A (p.Pro3128=)
NM_031407.7(HUWE1):c.9385+15A>G
NM_031407.7(HUWE1):c.9386-12C>T
NM_031407.7(HUWE1):c.9392C>T (p.Thr3131Ile) rs1556927963
NM_031407.7(HUWE1):c.9402A>G (p.Leu3134=)
NM_031407.7(HUWE1):c.9473G>A (p.Ser3158Asn) rs2147284634
NM_031407.7(HUWE1):c.947C>T (p.Thr316Met)
NM_031407.7(HUWE1):c.9488+11C>T
NM_031407.7(HUWE1):c.9488+13A>G
NM_031407.7(HUWE1):c.9488+8T>C
NM_031407.7(HUWE1):c.9488G>A (p.Arg3163Lys)
NM_031407.7(HUWE1):c.9489-15A>G
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.9603T>C (p.Asn3201=)
NM_031407.7(HUWE1):c.963+15G>T
NM_031407.7(HUWE1):c.963+4A>C
NM_031407.7(HUWE1):c.963+78G>C rs188749685
NM_031407.7(HUWE1):c.964-146=
NM_031407.7(HUWE1):c.9654C>G (p.Thr3218=)
NM_031407.7(HUWE1):c.9690G>A (p.Leu3230=)
NM_031407.7(HUWE1):c.9694C>T (p.Arg3232Cys)
NM_031407.7(HUWE1):c.9743G>T (p.Ser3248Ile)
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.9800G>A (p.Arg3267His)
NM_031407.7(HUWE1):c.9810C>A (p.Asp3270Glu)
NM_031407.7(HUWE1):c.9823A>G (p.Met3275Val) rs2147248817
NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)
NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=)
NM_031407.7(HUWE1):c.9913C>T (p.Arg3305Cys)
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
NM_031407.7(HUWE1):c.9947C>G (p.Ala3316Gly)
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)
NM_031407.7(HUWE1):c.9990T>C (p.Pro3330=)
Single allele rs1556502223

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