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.2496+150A>C
|
rs138098690
|
0.02542
|
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.6031-4T>A
|
rs139283158
|
0.01245
|
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595
|
0.01179
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
NM_031407.7(HUWE1):c.12426-49C>T
|
rs2234477
|
0.00884
|
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=)
|
rs146554767
|
0.00775
|
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=)
|
rs41306894
|
0.00734
|
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.10551G>T (p.Leu3517=)
|
rs61730217
|
0.00593
|
NM_031407.7(HUWE1):c.6030+20G>A
|
rs144140925
|
0.00590
|
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.9360A>G (p.Ala3120=)
|
rs2281481
|
0.00353
|
NM_031407.7(HUWE1):c.4743-18A>T
|
rs148439022
|
0.00344
|
NM_031407.7(HUWE1):c.646-18T>C
|
rs199711260
|
0.00273
|
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.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.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.7916-52A>C
|
rs185822455
|
0.00026
|
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.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.5586C>T (p.Leu1862=)
|
rs142982950
|
0.00009
|
NM_031407.7(HUWE1):c.72C>G (p.Asp24Glu)
|
rs375073885
|
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.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.9357C>T (p.Ser3119=)
|
rs143862848
|
0.00007
|
NM_031407.7(HUWE1):c.147C>T (p.Cys49=)
|
rs149435515
|
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.3294G>A (p.Ala1098=)
|
rs782368092
|
0.00005
|
NM_031407.7(HUWE1):c.5952T>C (p.Gly1984=)
|
rs782202317
|
0.00005
|
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.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.11632+13C>T
|
rs781937768
|
0.00003
|
NM_031407.7(HUWE1):c.1673-29G>A
|
rs201998952
|
0.00003
|
NM_031407.7(HUWE1):c.6525-20T>C
|
rs782445167
|
0.00003
|
NM_031407.7(HUWE1):c.957G>T (p.Gln319His)
|
rs782234241
|
0.00003
|
NM_031407.7(HUWE1):c.13023-36T>C
|
rs199736049
|
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.8964G>A (p.Gln2988=)
|
rs781914947
|
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.10221C>T (p.Ser3407=)
|
rs781788404
|
0.00001
|
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu)
|
rs1430366832
|
0.00001
|
NM_031407.7(HUWE1):c.762+42T>C
|
rs191572518
|
0.00001
|
NM_031407.7(HUWE1):c.9386-21T>G
|
rs782404422
|
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
|
NM_031407.7(HUWE1):c.10005C>T (p.His3335=)
|
|
|
NM_031407.7(HUWE1):c.10027T>C (p.Leu3343=)
|
|
|
NM_031407.7(HUWE1):c.10035+19A>G
|
|
|
NM_031407.7(HUWE1):c.10036-6C>T
|
|
|
NM_031407.7(HUWE1):c.10036-9T>A
|
|
|
NM_031407.7(HUWE1):c.10075A>G (p.Thr3359Ala)
|
|
|
NM_031407.7(HUWE1):c.10243G>A (p.Ala3415Thr)
|
|
|
NM_031407.7(HUWE1):c.10434C>T (p.Ser3478=)
|
rs782089185
|
|
NM_031407.7(HUWE1):c.10491C>T (p.Ala3497=)
|
|
|
NM_031407.7(HUWE1):c.10503G>A (p.Thr3501=)
|
|
|
NM_031407.7(HUWE1):c.10510C>G (p.Pro3504Ala)
|
rs199693166
|
|
NM_031407.7(HUWE1):c.10670C>T (p.Ala3557Val)
|
|
|
NM_031407.7(HUWE1):c.11048+3G>A
|
|
|
NM_031407.7(HUWE1):c.1114+13G>A
|
|
|
NM_031407.7(HUWE1):c.11339G>A (p.Arg3780His)
|
|
|
NM_031407.7(HUWE1):c.11418G>A (p.Glu3806=)
|
|
|
NM_031407.7(HUWE1):c.11476+15del
|
|
|
NM_031407.7(HUWE1):c.11529G>A (p.Glu3843=)
|
|
|
NM_031407.7(HUWE1):c.11633-264dup
|
rs34154526
|
|
NM_031407.7(HUWE1):c.11649C>T (p.Val3883=)
|
|
|
NM_031407.7(HUWE1):c.11781G>A (p.Thr3927=)
|
|
|
NM_031407.7(HUWE1):c.11847C>T (p.Pro3949=)
|
|
|
NM_031407.7(HUWE1):c.11878+110GT[13]
|
rs781962529
|
|
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+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.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.12531+204_12531+205dup
|
rs34675759
|
|
NM_031407.7(HUWE1):c.12531+204dup
|
rs34675759
|
|
NM_031407.7(HUWE1):c.12579G>A (p.Gly4193=)
|
|
|
NM_031407.7(HUWE1):c.12777C>A (p.Ile4259=)
|
|
|
NM_031407.7(HUWE1):c.1281A>G (p.Thr427=)
|
|
|
NM_031407.7(HUWE1):c.12864C>T (p.Phe4288=)
|
|
|
NM_031407.7(HUWE1):c.12903= (p.Thr4301=)
|
rs477171
|
|
NM_031407.7(HUWE1):c.12903A>G (p.Thr4301=)
|
rs477171
|
|
NM_031407.7(HUWE1):c.1384-50=
|
rs424024
|
|
NM_031407.7(HUWE1):c.1384-52=
|
rs424022
|
|
NM_031407.7(HUWE1):c.1489+13T>C
|
|
|
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.1958-255dup
|
rs199575386
|
|
NM_031407.7(HUWE1):c.2148A>G (p.Pro716=)
|
|
|
NM_031407.7(HUWE1):c.2636A>G (p.Asn879Ser)
|
|
|
NM_031407.7(HUWE1):c.2742+16G>C
|
|
|
NM_031407.7(HUWE1):c.3115A>C (p.Thr1039Pro)
|
|
|
NM_031407.7(HUWE1):c.3163+9T>C
|
rs144602282
|
|
NM_031407.7(HUWE1):c.3330T>G (p.Thr1110=)
|
|
|
NM_031407.7(HUWE1):c.3495T>C (p.Ala1165=)
|
|
|
NM_031407.7(HUWE1):c.3503+11A>C
|
|
|
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>T
|
rs1246834896
|
|
NM_031407.7(HUWE1):c.352-287del
|
rs61456936
|
|
NM_031407.7(HUWE1):c.3534T>C (p.Gly1178=)
|
|
|
NM_031407.7(HUWE1):c.3973-14C>T
|
|
|
NM_031407.7(HUWE1):c.4165A>G (p.Met1389Val)
|
|
|
NM_031407.7(HUWE1):c.4191+17G>A
|
|
|
NM_031407.7(HUWE1):c.4191+7A>G
|
|
|
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.4290G>A (p.Pro1430=)
|
|
|
NM_031407.7(HUWE1):c.4362G>C (p.Leu1454=)
|
|
|
NM_031407.7(HUWE1):c.4446G>A (p.Lys1482=)
|
|
|
NM_031407.7(HUWE1):c.4462-11dup
|
|
|
NM_031407.7(HUWE1):c.46-219dup
|
rs1557037695
|
|
NM_031407.7(HUWE1):c.46-234_46-233insTG
|
rs201540143
|
|
NM_031407.7(HUWE1):c.4764C>T (p.Leu1588=)
|
|
|
NM_031407.7(HUWE1):c.4825-20C>G
|
|
|
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+18A>C
|
|
|
NM_031407.7(HUWE1):c.5025A>G (p.Arg1675=)
|
rs782240883
|
|
NM_031407.7(HUWE1):c.504+5G>A
|
|
|
NM_031407.7(HUWE1):c.5226C>T (p.Ile1742=)
|
|
|
NM_031407.7(HUWE1):c.5559T>C (p.Thr1853=)
|
|
|
NM_031407.7(HUWE1):c.5631C>T (p.Ala1877=)
|
|
|
NM_031407.7(HUWE1):c.568-11dup
|
rs112428926
|
|
NM_031407.7(HUWE1):c.568-15del
|
|
|
NM_031407.7(HUWE1):c.5721A>C (p.Ser1907=)
|
|
|
NM_031407.7(HUWE1):c.5784C>A (p.Thr1928=)
|
|
|
NM_031407.7(HUWE1):c.5987G>A (p.Arg1996His)
|
|
|
NM_031407.7(HUWE1):c.6055G>A (p.Ala2019Thr)
|
|
|
NM_031407.7(HUWE1):c.6180G>A (p.Lys2060=)
|
|
|
NM_031407.7(HUWE1):c.623C>T (p.Ala208Val)
|
|
|
NM_031407.7(HUWE1):c.6313-10del
|
|
|
NM_031407.7(HUWE1):c.6408C>T (p.Leu2136=)
|
|
|
NM_031407.7(HUWE1):c.6426A>G (p.Ala2142=)
|
|
|
NM_031407.7(HUWE1):c.646-9T>A
|
|
|
NM_031407.7(HUWE1):c.6524+13C>T
|
|
|
NM_031407.7(HUWE1):c.6633C>T (p.Asn2211=)
|
|
|
NM_031407.7(HUWE1):c.6708-18_6708-13del
|
|
|
NM_031407.7(HUWE1):c.694-16dup
|
rs200857205
|
|
NM_031407.7(HUWE1):c.694-8del
|
rs200857205
|
|
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.7974C>T (p.Leu2658=)
|
|
|
NM_031407.7(HUWE1):c.8006-19T>G
|
|
|
NM_031407.7(HUWE1):c.8207-18T>C
|
|
|
NM_031407.7(HUWE1):c.8214G>A (p.Thr2738=)
|
|
|
NM_031407.7(HUWE1):c.8310G>A (p.Gln2770=)
|
|
|
NM_031407.7(HUWE1):c.8495-11C>A
|
|
|
NM_031407.7(HUWE1):c.8517T>G (p.Ala2839=)
|
|
|
NM_031407.7(HUWE1):c.862+261=
|
rs11317885
|
|
NM_031407.7(HUWE1):c.8641G>C (p.Glu2881Gln)
|
|
|
NM_031407.7(HUWE1):c.867T>C (p.Tyr289=)
|
|
|
NM_031407.7(HUWE1):c.8739A>G (p.Pro2913=)
|
|
|
NM_031407.7(HUWE1):c.8820C>T (p.Ser2940=)
|
|
|
NM_031407.7(HUWE1):c.9386-12C>T
|
|
|
NM_031407.7(HUWE1):c.9402A>G (p.Leu3134=)
|
|
|
NM_031407.7(HUWE1):c.9488+11C>T
|
|
|
NM_031407.7(HUWE1):c.9488+13A>G
|
|
|
NM_031407.7(HUWE1):c.9603T>C (p.Asn3201=)
|
|
|
NM_031407.7(HUWE1):c.9654C>G (p.Thr3218=)
|
|
|
NM_031407.7(HUWE1):c.9690G>A (p.Leu3230=)
|
|
|
NM_031407.7(HUWE1):c.9852C>T (p.Ser3284=)
|
|
|
Single allele
|
rs1556502214
|
|