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)
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rs2147249505
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NM_031407.7(HUWE1):c.97C>G (p.Gln33Glu)
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NM_031407.7(HUWE1):c.9800G>A (p.Arg3267His)
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NM_031407.7(HUWE1):c.9810C>A (p.Asp3270Glu)
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NM_031407.7(HUWE1):c.9823A>G (p.Met3275Val)
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rs2147248817
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NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)
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NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=)
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NM_031407.7(HUWE1):c.9913C>T (p.Arg3305Cys)
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NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
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NM_031407.7(HUWE1):c.9947C>G (p.Ala3316Gly)
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NM_031407.7(HUWE1):c.9958T>C (p.Ser3320Pro)
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NM_031407.7(HUWE1):c.995C>T (p.Thr332Ile)
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rs2149027742
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NM_031407.7(HUWE1):c.9962C>T (p.Thr3321Ile)
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NM_031407.7(HUWE1):c.9964G>A (p.Val3322Ile)
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NM_031407.7(HUWE1):c.9964G>C (p.Val3322Leu)
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NM_031407.7(HUWE1):c.9990T>C (p.Pro3330=)
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Single allele
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rs1556502223
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