NM_001374353.1(GLI2):c.801G>A (p.Ser267=)
|
rs2592595
|
0.82634
|
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn)
|
rs12711538
|
0.66550
|
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=)
|
rs10167980
|
0.61468
|
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser)
|
rs3738880
|
0.61025
|
NM_007129.5(ZIC2):c.1059C>T (p.His353=)
|
rs1831992
|
0.07872
|
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=)
|
rs146811565
|
0.04735
|
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=)
|
rs115052795
|
0.02871
|
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=)
|
rs140479803
|
0.02616
|
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=)
|
rs13008360
|
0.02306
|
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=)
|
rs182192729
|
0.02065
|
NM_007129.5(ZIC2):c.1239+18G>A
|
rs139312964
|
0.02063
|
NM_001374353.1(GLI2):c.1633-17C>T
|
rs78949549
|
0.01801
|
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser)
|
rs114376238
|
0.01651
|
NM_001374353.1(GLI2):c.963C>G (p.Pro321=)
|
rs149894186
|
0.01440
|
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=)
|
rs61732852
|
0.01154
|
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val)
|
rs149140724
|
0.00970
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=)
|
rs61732850
|
0.00832
|
NM_007129.5(ZIC2):c.528C>T (p.Asn176=)
|
rs143055297
|
0.00772
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_001374353.1(GLI2):c.720C>T (p.Asp240=)
|
rs142793481
|
0.00483
|
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile)
|
rs146467786
|
0.00465
|
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe)
|
rs146207623
|
0.00465
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=)
|
rs146059306
|
0.00325
|
NM_007129.5(ZIC2):c.213G>A (p.Pro71=)
|
rs189469383
|
0.00325
|
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=)
|
rs142856393
|
0.00317
|
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=)
|
rs373880077
|
0.00285
|
NM_001374353.1(GLI2):c.148+14C>T
|
rs190309269
|
0.00269
|
NM_007129.5(ZIC2):c.1554G>A (p.Gly518=)
|
rs199669243
|
0.00264
|
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser)
|
rs61732851
|
0.00254
|
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)
|
rs146992756
|
0.00254
|
NM_007129.5(ZIC2):c.546G>T (p.Gly182=)
|
rs200407312
|
0.00254
|
NM_001374353.1(GLI2):c.255-17G>T
|
rs199499256
|
0.00227
|
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu)
|
rs147580961
|
0.00222
|
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His)
|
rs139686081
|
0.00181
|
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=)
|
rs114259687
|
0.00177
|
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=)
|
rs747247646
|
0.00176
|
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met)
|
rs142296407
|
0.00124
|
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=)
|
rs143055766
|
0.00120
|
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)
|
rs556743028
|
0.00106
|
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=)
|
rs151090814
|
0.00101
|
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met)
|
rs142775128
|
0.00099
|
NM_001374353.1(GLI2):c.129A>C (p.Ala43=)
|
rs201041526
|
0.00094
|
NM_007129.5(ZIC2):c.1398G>T (p.Ala466=)
|
rs748825084
|
0.00094
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=)
|
rs146909860
|
0.00086
|
NM_001374353.1(GLI2):c.291C>T (p.Asp97=)
|
rs199671413
|
0.00086
|
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)
|
rs145939921
|
0.00081
|
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=)
|
rs137960978
|
0.00075
|
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro)
|
rs371219507
|
0.00074
|
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=)
|
rs149110951
|
0.00073
|
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)
|
rs149290823
|
0.00073
|
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)
|
rs138987487
|
0.00059
|
NM_007129.5(ZIC2):c.1494C>A (p.Gly498=)
|
rs949949328
|
0.00057
|
NM_001374353.1(GLI2):c.148+5T>C
|
rs201273354
|
0.00053
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala)
|
rs970835131
|
0.00046
|
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)
|
rs139298853
|
0.00041
|
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile)
|
rs138909736
|
0.00037
|
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr)
|
rs111840592
|
0.00037
|
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=)
|
rs553560055
|
0.00036
|
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)
|
rs144700510
|
0.00036
|
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)
|
rs148442092
|
0.00035
|
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=)
|
rs145751002
|
0.00035
|
NM_001374353.1(GLI2):c.1632+11G>A
|
rs140347335
|
0.00034
|
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)
|
rs200831069
|
0.00033
|
NM_007129.5(ZIC2):c.879C>T (p.Gly293=)
|
rs138007077
|
0.00033
|
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=)
|
rs200149538
|
0.00031
|
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His)
|
rs200537256
|
0.00029
|
NM_007129.5(ZIC2):c.1240-10T>G
|
rs567951541
|
0.00025
|
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=)
|
rs147314921
|
0.00024
|
NM_001374353.1(GLI2):c.392G>A (p.Arg131His)
|
rs149180414
|
0.00024
|
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=)
|
rs139840265
|
0.00024
|
NM_001374353.1(GLI2):c.243C>T (p.His81=)
|
rs147403076
|
0.00023
|
NM_007129.5(ZIC2):c.642C>T (p.Tyr214=)
|
rs202231540
|
0.00022
|
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala)
|
rs377454502
|
0.00021
|
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=)
|
rs138592005
|
0.00021
|
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=)
|
rs765818439
|
0.00020
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly)
|
rs1260890491
|
0.00019
|
NM_001374353.1(GLI2):c.637G>A (p.Val213Met)
|
rs202139687
|
0.00019
|
NM_001374353.1(GLI2):c.132G>A (p.Ala44=)
|
rs145778937
|
0.00017
|
NM_001374353.1(GLI2):c.189G>A (p.Pro63=)
|
rs200471311
|
0.00016
|
NM_001374353.1(GLI2):c.2191G>A (p.Gly731Arg)
|
rs146944207
|
0.00016
|
NM_001374353.1(GLI2):c.221A>G (p.His74Arg)
|
rs377700501
|
0.00016
|
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His)
|
rs200080112
|
0.00015
|
NM_001374353.1(GLI2):c.845+10G>A
|
rs199673018
|
0.00015
|
NM_007129.5(ZIC2):c.1221G>A (p.Ser407=)
|
rs369127058
|
0.00015
|
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu)
|
rs201051196
|
0.00014
|
NM_001374353.1(GLI2):c.9G>A (p.Thr3=)
|
rs199524680
|
0.00014
|
NM_007129.5(ZIC2):c.1454C>T (p.Ala485Val)
|
rs1355270815
|
0.00014
|
NM_007129.5(ZIC2):c.459G>T (p.Ala153=)
|
rs771629736
|
0.00014
|
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=)
|
rs542656225
|
0.00013
|
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=)
|
rs374113689
|
0.00013
|
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)
|
rs143914758
|
0.00013
|
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=)
|
rs374166743
|
0.00013
|
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val)
|
rs147419287
|
0.00013
|
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=)
|
rs777165274
|
0.00012
|
NM_007129.5(ZIC2):c.1587A>G (p.Glu529=)
|
rs755906674
|
0.00012
|
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=)
|
rs767400136
|
0.00011
|
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys)
|
rs193090538
|
0.00011
|
NM_001374353.1(GLI2):c.3434A>G (p.Lys1145Arg)
|
rs190017682
|
0.00011
|
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=)
|
rs200497671
|
0.00010
|
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro)
|
rs756664261
|
0.00010
|
NM_001374353.1(GLI2):c.845+14G>A
|
rs370294059
|
0.00010
|
NM_007129.5(ZIC2):c.297G>A (p.Gly99=)
|
rs912113781
|
0.00010
|
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly)
|
rs201279367
|
0.00009
|
NM_001374353.1(GLI2):c.252C>T (p.His84=)
|
rs201412339
|
0.00009
|
NM_001374353.1(GLI2):c.321G>A (p.Pro107=)
|
rs578011257
|
0.00009
|
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys)
|
rs770936696
|
0.00009
|
NM_001374353.1(GLI2):c.78C>T (p.Pro26=)
|
rs373668718
|
0.00009
|
NM_007129.5(ZIC2):c.552C>T (p.Pro184=)
|
rs554801676
|
0.00009
|
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)
|
rs759061834
|
0.00008
|
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg)
|
rs780303555
|
0.00008
|
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met)
|
rs571690193
|
0.00007
|
NM_001374353.1(GLI2):c.1875C>T (p.His625=)
|
rs372341303
|
0.00007
|
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=)
|
rs773098021
|
0.00007
|
NM_001374353.1(GLI2):c.4413G>T (p.Leu1471Phe)
|
rs146403211
|
0.00007
|
NM_001374353.1(GLI2):c.538A>C (p.Met180Leu)
|
rs565813552
|
0.00007
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00006
|
NM_001374353.1(GLI2):c.1990G>A (p.Val664Met)
|
rs551617843
|
0.00006
|
NM_001374353.1(GLI2):c.315G>A (p.Pro105=)
|
rs139473153
|
0.00006
|
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly)
|
rs370136073
|
0.00006
|
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)
|
rs370333257
|
0.00006
|
NM_001374353.1(GLI2):c.672G>A (p.Thr224=)
|
rs147049153
|
0.00006
|
NM_007129.5(ZIC2):c.1374G>A (p.Ala458=)
|
rs757103144
|
0.00006
|
NM_007129.5(ZIC2):c.348C>A (p.Thr116=)
|
rs1264657841
|
0.00006
|
NM_001374353.1(GLI2):c.1367G>A (p.Arg456His)
|
rs150170739
|
0.00005
|
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=)
|
rs768606373
|
0.00005
|
NM_001374353.1(GLI2):c.1701T>C (p.His567=)
|
rs370382506
|
0.00005
|
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)
|
rs528985094
|
0.00005
|
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=)
|
rs772224406
|
0.00005
|
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)
|
rs761857488
|
0.00005
|
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=)
|
rs753450963
|
0.00005
|
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=)
|
rs374705620
|
0.00004
|
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=)
|
rs141647925
|
0.00004
|
NM_001374353.1(GLI2):c.118G>A (p.Ala40Thr)
|
rs776675838
|
0.00004
|
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=)
|
rs768259857
|
0.00004
|
NM_001374353.1(GLI2):c.1317+6C>G
|
rs200971419
|
0.00004
|
NM_001374353.1(GLI2):c.1633-4C>G
|
rs377701321
|
0.00004
|
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=)
|
rs146766721
|
0.00004
|
NM_001374353.1(GLI2):c.1906-11G>A
|
rs769187484
|
0.00004
|
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=)
|
rs374564316
|
0.00004
|
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr)
|
rs553780090
|
0.00004
|
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp)
|
rs886054812
|
0.00004
|
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=)
|
rs767130064
|
0.00004
|
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu)
|
rs374562179
|
0.00004
|
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=)
|
rs766031476
|
0.00004
|
NM_001374353.1(GLI2):c.402C>T (p.His134=)
|
rs200675247
|
0.00004
|
NM_001374353.1(GLI2):c.4510C>G (p.His1504Asp)
|
rs199843410
|
0.00004
|
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr)
|
rs199887024
|
0.00004
|
NM_001374353.1(GLI2):c.4592G>A (p.Arg1531Gln)
|
rs371304728
|
0.00004
|
NM_001374353.1(GLI2):c.495C>T (p.Gly165=)
|
rs193062450
|
0.00004
|
NM_001374353.1(GLI2):c.546C>T (p.Leu182=)
|
rs200028917
|
0.00004
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser)
|
rs144406619
|
0.00004
|
NM_001374353.1(GLI2):c.846-18G>A
|
rs765320072
|
0.00004
|
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met)
|
rs770918439
|
0.00004
|
NM_007129.5(ZIC2):c.885G>A (p.Pro295=)
|
rs779344309
|
0.00004
|
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His)
|
rs370220133
|
0.00003
|
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)
|
rs200095340
|
0.00003
|
NM_001374353.1(GLI2):c.1633-5C>T
|
rs551256208
|
0.00003
|
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=)
|
rs139202322
|
0.00003
|
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=)
|
rs565184396
|
0.00003
|
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys)
|
rs773976966
|
0.00003
|
NM_001374353.1(GLI2):c.2303A>T (p.Asn768Ile)
|
rs768131638
|
0.00003
|
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu)
|
rs761090665
|
0.00003
|
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr)
|
rs751028726
|
0.00003
|
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=)
|
rs369264013
|
0.00003
|
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His)
|
rs201523549
|
0.00003
|
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=)
|
rs1403391073
|
0.00003
|
NM_001374353.1(GLI2):c.677G>A (p.Arg226His)
|
rs766283583
|
0.00003
|
NM_007129.5(ZIC2):c.1347C>T (p.Ser449=)
|
rs1023574991
|
0.00003
|
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe)
|
rs969318004
|
0.00003
|
NM_007129.5(ZIC2):c.553G>A (p.Gly185Ser)
|
rs543003846
|
0.00003
|
NM_007129.5(ZIC2):c.855A>G (p.Thr285=)
|
rs780880109
|
0.00003
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
NM_001374353.1(GLI2):c.1632+10C>T
|
rs769094105
|
0.00002
|
NM_001374353.1(GLI2):c.176A>G (p.His59Arg)
|
rs777912029
|
0.00002
|
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)
|
rs387907277
|
0.00002
|
NM_001374353.1(GLI2):c.2005A>T (p.Thr669Ser)
|
rs750174908
|
0.00002
|
NM_001374353.1(GLI2):c.2075T>C (p.Leu692Pro)
|
rs781438228
|
0.00002
|
NM_001374353.1(GLI2):c.2243-4G>A
|
rs568001894
|
0.00002
|
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=)
|
rs757164059
|
0.00002
|
NM_001374353.1(GLI2):c.30C>T (p.Ser10=)
|
rs145169912
|
0.00002
|
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=)
|
rs771337922
|
0.00002
|
NM_001374353.1(GLI2):c.451G>A (p.Ala151Thr)
|
rs781771721
|
0.00002
|
NM_001374353.1(GLI2):c.4610C>T (p.Pro1537Leu)
|
rs767802807
|
0.00002
|
NM_001374353.1(GLI2):c.515C>A (p.Thr172Asn)
|
rs200720726
|
0.00002
|
NM_001374353.1(GLI2):c.58C>G (p.Leu20Val)
|
rs754532059
|
0.00002
|
NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro)
|
rs867965997
|
0.00002
|
NM_007129.5(ZIC2):c.282G>C (p.Ala94=)
|
rs886038582
|
0.00002
|
NM_007129.5(ZIC2):c.420G>A (p.Gly140=)
|
rs747747563
|
0.00002
|
NM_007129.5(ZIC2):c.80C>T (p.Ala27Val)
|
rs781249527
|
0.00002
|
NM_001374353.1(GLI2):c.120G>A (p.Ala40=)
|
rs202130125
|
0.00001
|
NM_001374353.1(GLI2):c.123A>G (p.Ala41=)
|
rs200321870
|
0.00001
|
NM_001374353.1(GLI2):c.1253A>G (p.Tyr418Cys)
|
rs759585885
|
0.00001
|
NM_001374353.1(GLI2):c.1486G>T (p.Ala496Ser)
|
rs774591307
|
0.00001
|
NM_001374353.1(GLI2):c.1519C>T (p.Leu507=)
|
rs1205997619
|
0.00001
|
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly)
|
rs561810561
|
0.00001
|
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)
|
rs372206751
|
0.00001
|
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser)
|
rs531807595
|
0.00001
|
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=)
|
rs1190519823
|
0.00001
|
NM_001374353.1(GLI2):c.257C>T (p.Pro86Leu)
|
rs757479194
|
0.00001
|
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser)
|
rs572826436
|
0.00001
|
NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp)
|
rs1479419735
|
0.00001
|
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln)
|
rs886054813
|
0.00001
|
NM_001374353.1(GLI2):c.2783C>T (p.Thr928Ile)
|
rs1004685361
|
0.00001
|
NM_001374353.1(GLI2):c.2884C>T (p.Leu962=)
|
rs1345329176
|
0.00001
|
NM_001374353.1(GLI2):c.2957A>C (p.Asp986Ala)
|
rs930268229
|
0.00001
|
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=)
|
rs751735227
|
0.00001
|
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=)
|
rs1472557461
|
0.00001
|
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile)
|
rs200999705
|
0.00001
|
NM_001374353.1(GLI2):c.3518G>T (p.Gly1173Val)
|
rs774621554
|
0.00001
|
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg)
|
rs377503122
|
0.00001
|
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His)
|
rs370407550
|
0.00001
|
NM_001374353.1(GLI2):c.4093C>T (p.Arg1365Cys)
|
rs761959609
|
0.00001
|
NM_001374353.1(GLI2):c.4122G>C (p.Gln1374His)
|
rs1489027653
|
0.00001
|
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val)
|
rs577126364
|
0.00001
|
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=)
|
rs1683233094
|
0.00001
|
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser)
|
rs542892514
|
0.00001
|
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=)
|
rs527693910
|
0.00001
|
NM_001374353.1(GLI2):c.841C>A (p.Leu281Ile)
|
rs1558923649
|
0.00001
|
NM_001374353.1(GLI2):c.879C>T (p.Pro293=)
|
rs1318325355
|
0.00001
|
NM_007129.5(ZIC2):c.1146G>A (p.Lys382=)
|
rs760314965
|
0.00001
|
NM_007129.5(ZIC2):c.1167C>G (p.Ser389=)
|
rs1183417795
|
0.00001
|
NM_007129.5(ZIC2):c.1290C>T (p.Ser430=)
|
rs780916615
|
0.00001
|
NM_007129.5(ZIC2):c.1314G>A (p.Pro438=)
|
rs762579383
|
0.00001
|
NM_007129.5(ZIC2):c.1338G>T (p.Glu446Asp)
|
rs754212151
|
0.00001
|
NM_007129.5(ZIC2):c.1439C>T (p.Ser480Leu)
|
rs2053262180
|
0.00001
|
NM_007129.5(ZIC2):c.1506G>T (p.Ala502=)
|
rs773682579
|
0.00001
|
NM_007129.5(ZIC2):c.261C>T (p.Gly87=)
|
rs1024248405
|
0.00001
|
NM_007129.5(ZIC2):c.265G>C (p.Ala89Pro)
|
rs2053238740
|
0.00001
|
NM_007129.5(ZIC2):c.522G>T (p.Val174=)
|
rs1482587836
|
0.00001
|
NM_007129.5(ZIC2):c.627A>G (p.Gln209=)
|
rs766439036
|
0.00001
|
NM_007129.5(ZIC2):c.876C>G (p.Val292=)
|
rs1207711011
|
0.00001
|
NM_007129.5(ZIC2):c.914A>T (p.Glu305Val)
|
rs897501049
|
0.00001
|
NC_000013.10:g.(?_100038233)_(103718599_?)dup
|
|
|
NC_000013.10:g.(?_92002837)_(103343314_?)del
|
|
|
NC_000013.10:g.(?_99336978)_(102379160_?)del
|
|
|
NC_000013.11:g.(?_99385979)_(99986648_?)del
|
|
|
NM_001374353.1(GLI2):c.1022T>G (p.Leu341Arg)
|
|
|
NM_001374353.1(GLI2):c.1059+20A>G
|
|
|
NM_001374353.1(GLI2):c.1060-12A>G
|
|
|
NM_001374353.1(GLI2):c.1079C>T (p.Ser360Leu)
|
|
|
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
|
|
|
NM_001374353.1(GLI2):c.109G>A (p.Val37Met)
|
|
|
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
|
|
|
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
|
|
|
NM_001374353.1(GLI2):c.1177A>G (p.Thr393Ala)
|
|
|
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
|
|
|
NM_001374353.1(GLI2):c.1183-4C>T
|
rs1682382173
|
|
NM_001374353.1(GLI2):c.1183-65C>T
|
|
|
NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser)
|
|
|
NM_001374353.1(GLI2):c.1263C>G (p.Asn421Lys)
|
|
|
NM_001374353.1(GLI2):c.1300C>G (p.Gln434Glu)
|
rs767205563
|
|
NM_001374353.1(GLI2):c.1318-14T>C
|
|
|
NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys)
|
|
|
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
|
|
|
NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg)
|
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_001374353.1(GLI2):c.140C>T (p.Ala47Val)
|
|
|
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
|
|
|
NM_001374353.1(GLI2):c.1433G>A (p.Arg478Gln)
|
rs2105051121
|
|
NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys)
|
|
|
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
|
|
|
NM_001374353.1(GLI2):c.1467+9C>T
|
|
|
NM_001374353.1(GLI2):c.1468-12G>A
|
|
|
NM_001374353.1(GLI2):c.1468-13C>A
|
|
|
NM_001374353.1(GLI2):c.1468-13C>T
|
|
|
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
|
|
|
NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala)
|
|
|
NM_001374353.1(GLI2):c.148+12T>A
|
rs2104697160
|
|
NM_001374353.1(GLI2):c.148+20C>T
|
|
|
NM_001374353.1(GLI2):c.1483_1494del (p.Lys495_Ser498del)
|
rs1682772612
|
|
NM_001374353.1(GLI2):c.149-877_238del
|
|
|
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser)
|
rs1553477146
|
|
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
|
|
|
NM_001374353.1(GLI2):c.1537G>C (p.Glu513Gln)
|
|
|
NM_001374353.1(GLI2):c.1560C>T (p.His520=)
|
|
|
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=)
|
rs2105064545
|
|
NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val)
|
|
|
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
|
|
|
NM_001374353.1(GLI2):c.1633-14G>T
|
|
|
NM_001374353.1(GLI2):c.1658G>T (p.Gly553Val)
|
|
|
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
|
rs763503195
|
|
NM_001374353.1(GLI2):c.1691T>G (p.Leu564Arg)
|
rs2105070545
|
|
NM_001374353.1(GLI2):c.1731C>T (p.His577=)
|
|
|
NM_001374353.1(GLI2):c.1798G>A (p.Glu600Lys)
|
rs2105071104
|
|
NM_001374353.1(GLI2):c.1805G>A (p.Gly602Asp)
|
|
|
NM_001374353.1(GLI2):c.1819G>A (p.Gly607Ser)
|
|
|
NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)
|
|
|
NM_001374353.1(GLI2):c.1868G>C (p.Cys623Ser)
|
|
|
NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg)
|
|
|
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
|
|
|
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
|
|
|
NM_001374353.1(GLI2):c.1903G>A (p.Gly635Arg)
|
|
|
NM_001374353.1(GLI2):c.1905+12T>C
|
|
|
NM_001374353.1(GLI2):c.1905+1G>A
|
rs1558937172
|
|
NM_001374353.1(GLI2):c.1905+3A>G
|
|
|
NM_001374353.1(GLI2):c.1907T>C (p.Leu636Pro)
|
rs1373160690
|
|
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
|
|
|
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=)
|
rs1682970189
|
|
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)
|
rs1388607733
|
|
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
|
|
|
NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)
|
|
|
NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu)
|
|
|
NM_001374353.1(GLI2):c.195C>G (p.Asp65Glu)
|
|
|
NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu)
|
|
|
NM_001374353.1(GLI2):c.2033C>T (p.Thr678Met)
|
|
|
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
|
|
|
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
|
|
|
NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser)
|
|
|
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.2136C>T (p.Phe712=)
|
rs151179617
|
|
NM_001374353.1(GLI2):c.2152_2154del (p.Glu718del)
|
rs1682985936
|
|
NM_001374353.1(GLI2):c.2161A>C (p.Lys721Gln)
|
|
|
NM_001374353.1(GLI2):c.2162A>G (p.Lys721Arg)
|
|
|
NM_001374353.1(GLI2):c.2177C>T (p.Ser726Phe)
|
|
|
NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)
|
|
|
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=)
|
rs138932004
|
|
NM_001374353.1(GLI2):c.2210G>A (p.Arg737Gln)
|
rs144782119
|
|
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro)
|
rs144782119
|
|
NM_001374353.1(GLI2):c.2242+18G>T
|
|
|
NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser)
|
|
|
NM_001374353.1(GLI2):c.2243G>C (p.Gly748Ala)
|
|
|
NM_001374353.1(GLI2):c.2245T>C (p.Ser749Pro)
|
|
|
NM_001374353.1(GLI2):c.2288C>T (p.Ala763Val)
|
|
|
NM_001374353.1(GLI2):c.2291G>A (p.Gly764Glu)
|
|
|
NM_001374353.1(GLI2):c.2403C>T (p.Thr801=)
|
rs1440441101
|
|
NM_001374353.1(GLI2):c.2440_2442del (p.Ser815del)
|
rs770837314
|
|
NM_001374353.1(GLI2):c.2453C>G (p.Ser818Cys)
|
|
|
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
|
|
|
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
|
|
|
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
|
|
|
NM_001374353.1(GLI2):c.2561A>G (p.Gln854Arg)
|
|
|
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
|
|
|
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
|
|
|
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
|
|
|
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
|
|
|
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
|
|
|
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
|
|
|
NM_001374353.1(GLI2):c.2651del (p.Pro884fs)
|
|
|
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=)
|
rs926908365
|
|
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
|
|
|
NM_001374353.1(GLI2):c.2714C>T (p.Ala905Val)
|
|
|
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
|
|
|
NM_001374353.1(GLI2):c.2715_2735dup (p.Ala912_Gly913insProGluArgThrLeuProAla)
|
|
|
NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser)
|
|
|
NM_001374353.1(GLI2):c.2732C>T (p.Pro911Leu)
|
|
|
NM_001374353.1(GLI2):c.2747G>A (p.Arg916His)
|
|
|
NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)
|
|
|
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
|
|
|
NM_001374353.1(GLI2):c.2789G>A (p.Gly930Asp)
|
|
|
NM_001374353.1(GLI2):c.2797C>G (p.His933Asp)
|
|
|
NM_001374353.1(GLI2):c.2836G>A (p.Gly946Ser)
|
rs2105088610
|
|
NM_001374353.1(GLI2):c.285C>G (p.Ile95Met)
|
|
|
NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn)
|
rs1683119644
|
|
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)
|
|
|
NM_001374353.1(GLI2):c.2877C>T (p.Pro959=)
|
|
|
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
|
|
|
NM_001374353.1(GLI2):c.2893C>A (p.Pro965Thr)
|
|
|
NM_001374353.1(GLI2):c.2905C>T (p.Arg969Cys)
|
|
|
NM_001374353.1(GLI2):c.292A>G (p.Ile98Val)
|
|
|
NM_001374353.1(GLI2):c.2933C>G (p.Pro978Arg)
|
|
|
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
|
|
|
NM_001374353.1(GLI2):c.294C>G (p.Ile98Met)
|
|
|
NM_001374353.1(GLI2):c.2956G>A (p.Asp986Asn)
|
|
|
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
|
|
|
NM_001374353.1(GLI2):c.3007G>C (p.Ala1003Pro)
|
|
|
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
|
|
|
NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys)
|
|
|
NM_001374353.1(GLI2):c.304C>T (p.Arg102Trp)
|
|
|
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
|
|
|
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
|
|
|
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=)
|
rs749578390
|
|
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
|
|
|
NM_001374353.1(GLI2):c.3172A>G (p.Ser1058Gly)
|
|
|
NM_001374353.1(GLI2):c.317A>G (p.His106Arg)
|
|
|
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
|
|
|
NM_001374353.1(GLI2):c.3196G>A (p.Gly1066Arg)
|
|
|
NM_001374353.1(GLI2):c.322del (p.Ala108fs)
|
rs1553471273
|
|
NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe)
|
|
|
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
|
|
|
NM_001374353.1(GLI2):c.3265G>C (p.Gly1089Arg)
|
|
|
NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe)
|
|
|
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys)
|
rs368638181
|
|
NM_001374353.1(GLI2):c.3350C>T (p.Pro1117Leu)
|
|
|
NM_001374353.1(GLI2):c.3361A>G (p.Asn1121Asp)
|
|
|
NM_001374353.1(GLI2):c.3364A>G (p.Lys1122Glu)
|
|
|
NM_001374353.1(GLI2):c.3409G>T (p.Val1137Leu)
|
|
|
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val)
|
|
|
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)
|
rs141988240
|
|
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
|
|
|
NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys)
|
|
|
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=)
|
rs141356812
|
|
NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu)
|
|
|
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
|
|
|
NM_001374353.1(GLI2):c.3482C>G (p.Pro1161Arg)
|
rs2105092684
|
|
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
|
|
|
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
|
|
|
NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=)
|
|
|
NM_001374353.1(GLI2):c.3567del (p.Gln1189fs)
|
rs1683179008
|
|
NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg)
|
|
|
NM_001374353.1(GLI2):c.3583C>T (p.Pro1195Ser)
|
|
|
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
|
|
|
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=)
|
rs2105093446
|
|
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
|
|
|
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
|
|
|
NM_001374353.1(GLI2):c.3644G>A (p.Ser1215Asn)
|
|
|
NM_001374353.1(GLI2):c.364G>T (p.Val122Leu)
|
|
|
NM_001374353.1(GLI2):c.3665C>T (p.Thr1222Ile)
|
|
|
NM_001374353.1(GLI2):c.3689A>G (p.Tyr1230Cys)
|
|
|
NM_001374353.1(GLI2):c.3696A>C (p.Gln1232His)
|
|
|
NM_001374353.1(GLI2):c.3699C>T (p.Val1233=)
|
rs1195795024
|
|
NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro)
|
|
|
NM_001374353.1(GLI2):c.3706C>G (p.Gln1236Glu)
|
|
|
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
|
|
|
NM_001374353.1(GLI2):c.3766A>G (p.Met1256Val)
|
|
|
NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser)
|
|
|
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
|
|
|
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
|
|
|
NM_001374353.1(GLI2):c.3887_3888inv (p.Pro1296Leu)
|
|
|
NM_001374353.1(GLI2):c.3901G>A (p.Val1301Ile)
|
|
|
NM_001374353.1(GLI2):c.3905A>G (p.Gln1302Arg)
|
|
|
NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=)
|
|
|
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu)
|
|
|
NM_001374353.1(GLI2):c.4018G>A (p.Gly1340Ser)
|
|
|
NM_001374353.1(GLI2):c.4019G>A (p.Gly1340Asp)
|
|
|
NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=)
|
|
|
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
|
|
|
NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr)
|
|
|
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
|
|
|
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
|
|
|
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg)
|
|
|
NM_001374353.1(GLI2):c.4157T>C (p.Met1386Thr)
|
|
|
NM_001374353.1(GLI2):c.4184C>T (p.Thr1395Ile)
|
|
|
NM_001374353.1(GLI2):c.4189G>C (p.Glu1397Gln)
|
|
|
NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=)
|
|
|
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser)
|
rs149163880
|
|
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
|
|
|
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe)
|
rs1553479775
|
|
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
|
|
|
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
|
|
|
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
|
|
|
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
|
|
|
NM_001374353.1(GLI2):c.4357C>T (p.Arg1453Trp)
|
|
|
NM_001374353.1(GLI2):c.4361C>G (p.Ser1454Cys)
|
|
|
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
|
|
|
NM_001374353.1(GLI2):c.4434G>C (p.Gln1478His)
|
|
|
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)
|
rs1187651972
|
|
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His)
|
|
|
NM_001374353.1(GLI2):c.449C>T (p.Pro150Leu)
|
rs2104951410
|
|
NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser)
|
|
|
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
|
|
|
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu)
|
rs148902971
|
|
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
|
|
|
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro)
|
rs781771721
|
|
NM_001374353.1(GLI2):c.4526C>T (p.Ser1509Leu)
|
|
|
NM_001374353.1(GLI2):c.4528G>C (p.Gly1510Arg)
|
|
|
NM_001374353.1(GLI2):c.4552C>T (p.His1518Tyr)
|
|
|
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=)
|
rs1335405295
|
|
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
|
|
|
NM_001374353.1(GLI2):c.4586C>T (p.Thr1529Ile)
|
|
|
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
|
|
|
NM_001374353.1(GLI2):c.4621G>A (p.Ala1541Thr)
|
|
|
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
|
|
|
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
|
|
|
NM_001374353.1(GLI2):c.493G>T (p.Gly165Cys)
|
|
|
NM_001374353.1(GLI2):c.49del (p.Ser17fs)
|
rs2104696745
|
|
NM_001374353.1(GLI2):c.508G>C (p.Gly170Arg)
|
|
|
NM_001374353.1(GLI2):c.539T>G (p.Met180Arg)
|
|
|
NM_001374353.1(GLI2):c.547G>A (p.Val183Met)
|
|
|
NM_001374353.1(GLI2):c.562G>A (p.Ala188Thr)
|
|
|
NM_001374353.1(GLI2):c.564G>A (p.Ala188=)
|
|
|
NM_001374353.1(GLI2):c.621C>T (p.His207=)
|
|
|
NM_001374353.1(GLI2):c.643+15_643+16delinsTG
|
rs2104965814
|
|
NM_001374353.1(GLI2):c.643+16C>A
|
|
|
NM_001374353.1(GLI2):c.643+16C>G
|
rs6718382
|
|
NM_001374353.1(GLI2):c.644-11C>T
|
|
|
NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys)
|
|
|
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
|
|
|
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
|
|
|
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
|
|
|
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro)
|
rs1558923316
|
|
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
|
|
|
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
|
|
|
NM_001374353.1(GLI2):c.770T>C (p.Val257Ala)
|
rs1573698341
|
|
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)
|
rs1681993062
|
|
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
|
|
|
NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln)
|
|
|
NM_001374353.1(GLI2):c.845+17A>G
|
|
|
NM_001374353.1(GLI2):c.861C>T (p.Phe287=)
|
rs2105019550
|
|
NM_001374353.1(GLI2):c.862C>T (p.Pro288Ser)
|
|
|
NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro)
|
|
|
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
|
|
|
NM_001374353.1(GLI2):c.968T>C (p.Phe323Ser)
|
|
|
NM_001374353.1(GLI2):c.971T>C (p.Leu324Pro)
|
|
|
NM_001374353.1(GLI2):c.985A>G (p.Met329Val)
|
|
|
NM_001374353.1(GLI2):c.9dup (p.Ser4fs)
|
|
|
NM_007129.5(ZIC2):c.1012C>T (p.Pro338Ser)
|
|
|
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser)
|
rs2053244781
|
|
NM_007129.5(ZIC2):c.102G>A (p.Glu34=)
|
|
|
NM_007129.5(ZIC2):c.1036C>T (p.Arg346Cys)
|
|
|
NM_007129.5(ZIC2):c.1037G>T (p.Arg346Leu)
|
|
|
NM_007129.5(ZIC2):c.1041C>A (p.Ser347=)
|
rs2152162782
|
|
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro)
|
rs2053244892
|
|
NM_007129.5(ZIC2):c.1068C>G (p.Thr356=)
|
|
|
NM_007129.5(ZIC2):c.1073C>A (p.Thr358Lys)
|
rs2152162790
|
|
NM_007129.5(ZIC2):c.1074A>G (p.Thr358=)
|
|
|
NM_007129.5(ZIC2):c.1075+15G>A
|
|
|
NM_007129.5(ZIC2):c.1075+18C>T
|
rs1007874796
|
|
NM_007129.5(ZIC2):c.1076-18G>A
|
|
|
NM_007129.5(ZIC2):c.1076-18G>T
|
|
|
NM_007129.5(ZIC2):c.1076-2A>T
|
rs1555332361
|
|
NM_007129.5(ZIC2):c.1076-8G>A
|
|
|
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=)
|
rs996264199
|
|
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys)
|
rs2053256269
|
|
NM_007129.5(ZIC2):c.109G>A (p.Asp37Asn)
|
|
|
NM_007129.5(ZIC2):c.1103A>T (p.Glu368Val)
|
|
|
NM_007129.5(ZIC2):c.1104G>A (p.Glu368=)
|
|
|
NM_007129.5(ZIC2):c.1119C>T (p.Arg373=)
|
|
|
NM_007129.5(ZIC2):c.1122C>T (p.Phe374=)
|
|
|
NM_007129.5(ZIC2):c.112C>G (p.Arg38Gly)
|
|
|
NM_007129.5(ZIC2):c.1151T>C (p.Met384Thr)
|
|
|
NM_007129.5(ZIC2):c.1156del (p.Val386fs)
|
rs2152163567
|
|
NM_007129.5(ZIC2):c.1164C>A (p.Thr388=)
|
|
|
NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del)
|
|
|
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn)
|
rs2053256914
|
|
NM_007129.5(ZIC2):c.1215del (p.Ser406fs)
|
rs1594291863
|
|
NM_007129.5(ZIC2):c.1227G>A (p.Arg409=)
|
rs2053257052
|
|
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del)
|
rs1566405714
|
|
NM_007129.5(ZIC2):c.1239+11G>C
|
|
|
NM_007129.5(ZIC2):c.1239+6A>G
|
|
|
NM_007129.5(ZIC2):c.1239+7C>T
|
|
|
NM_007129.5(ZIC2):c.1239+9G>A
|
|
|
NM_007129.5(ZIC2):c.1239+9G>T
|
|
|
NM_007129.5(ZIC2):c.1240-11T>C
|
|
|
NM_007129.5(ZIC2):c.1243del (p.His415fs)
|
rs2152163697
|
|
NM_007129.5(ZIC2):c.1251C>T (p.Ser417=)
|
|
|
NM_007129.5(ZIC2):c.1255C>A (p.Pro419Thr)
|
|
|
NM_007129.5(ZIC2):c.1256C>T (p.Pro419Leu)
|
|
|
NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)
|
|
|
NM_007129.5(ZIC2):c.1257_1258delinsAA (p.Gln420Lys)
|
rs2152163712
|
|
NM_007129.5(ZIC2):c.1281C>G (p.Ala427=)
|
|
|
NM_007129.5(ZIC2):c.1281C>T (p.Ala427=)
|
|
|
NM_007129.5(ZIC2):c.1282G>T (p.Ala428Ser)
|
|
|
NM_007129.5(ZIC2):c.1302G>A (p.Ser434=)
|
rs376758883
|
|
NM_007129.5(ZIC2):c.1307C>T (p.Thr436Met)
|
rs2152163743
|
|
NM_007129.5(ZIC2):c.1308G>A (p.Thr436=)
|
|
|
NM_007129.5(ZIC2):c.1310C>T (p.Pro437Leu)
|
|
|
NM_007129.5(ZIC2):c.1316G>A (p.Gly439Glu)
|
|
|
NM_007129.5(ZIC2):c.1317del (p.Leu440fs)
|
rs1594292057
|
|
NM_007129.5(ZIC2):c.1320G>T (p.Leu440=)
|
|
|
NM_007129.5(ZIC2):c.1330A>G (p.Ser444Gly)
|
rs1402415693
|
|
NM_007129.5(ZIC2):c.1332C>A (p.Ser444Arg)
|
|
|
NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)
|
|
|
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del)
|
rs755522720
|
|
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[3] (p.Ala470_Val471insAlaAlaAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1365_1379del (p.Ala466_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1368GGC[4] (p.Ala470_Val471insAla)
|
|
|
NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)
|
|
|
NM_007129.5(ZIC2):c.1377A>T (p.Ala459=)
|
|
|
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup)
|
rs768673486
|
|
NM_007129.5(ZIC2):c.1377_1391del (p.Ala466_Ala470del)
|
rs752851904
|
|
NM_007129.5(ZIC2):c.1377_1391dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del)
|
rs756225250
|
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NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup)
|
rs756225250
|
|
NM_007129.5(ZIC2):c.1380G>A (p.Ala460=)
|
|
|
NM_007129.5(ZIC2):c.1380GGC[1] (p.Ala468_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1380GGC[3] (p.Ala470del)
|
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|
NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup)
|
rs762700653
|
|
NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)
|
|
|
NM_007129.5(ZIC2):c.1383G>C (p.Ala461=)
|
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|
NM_007129.5(ZIC2):c.1383_1406del (p.Ala463_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1386_1406del (p.Ala464_Ala470del)
|
rs761822481
|
|
NM_007129.5(ZIC2):c.1386_1406dup (p.Ala464_Ala470dup)
|
rs761822481
|
|
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1389_1406del (p.Ala465_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1392T>A (p.Ala464=)
|
rs921926048
|
|
NM_007129.5(ZIC2):c.1392T>C (p.Ala464=)
|
rs921926048
|
|
NM_007129.5(ZIC2):c.1392T>G (p.Ala464=)
|
rs921926048
|
|
NM_007129.5(ZIC2):c.1392_1397dup (p.Ala470_Val471insAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1392_1400del (p.Ala468_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1392_1400dup (p.Ala468_Ala470dup)
|
rs765889921
|
|
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del)
|
rs761822481
|
|
NM_007129.5(ZIC2):c.1392_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1395GGC[5] (p.Ala470_Val471insAla)
|
|
|
NM_007129.5(ZIC2):c.1395GGC[6] (p.Ala469_Ala470dup)
|
rs753250735
|
|
NM_007129.5(ZIC2):c.1397_1411del (p.Ala466_Ala470del)
|
rs767890648
|
|
NM_007129.5(ZIC2):c.1399_1413del (p.Ala467_Val471del)
|
rs756597502
|
|
NM_007129.5(ZIC2):c.1406_1411del (p.Ala469_Ala470del)
|
|
|
NM_007129.5(ZIC2):c.1406_1411dup (p.Ala470_Val471insAlaAla)
|
|
|
NM_007129.5(ZIC2):c.1407_1409dup (p.Ala470_Val471insAla)
|
|
|
NM_007129.5(ZIC2):c.1415_1423dup (p.Val474_His475insProAlaVal)
|
|
|
NM_007129.5(ZIC2):c.1419G>A (p.Ala473=)
|
|
|
NM_007129.5(ZIC2):c.1432G>A (p.Gly478Arg)
|
|
|
NM_007129.5(ZIC2):c.1437C>G (p.Gly479=)
|
|
|
NM_007129.5(ZIC2):c.143G>A (p.Gly48Asp)
|
rs771466003
|
|
NM_007129.5(ZIC2):c.1442G>T (p.Gly481Val)
|
|
|
NM_007129.5(ZIC2):c.1445G>A (p.Ser482Asn)
|
|
|
NM_007129.5(ZIC2):c.1449C>T (p.Gly483=)
|
|
|
NM_007129.5(ZIC2):c.1457G>A (p.Gly486Glu)
|
|
|
NM_007129.5(ZIC2):c.1468GGC[5] (p.Gly492_Ser493insGlyGly)
|
|
|
NM_007129.5(ZIC2):c.1474G>T (p.Gly492Cys)
|
|
|
NM_007129.5(ZIC2):c.147C>G (p.Phe49Leu)
|
|
|
NM_007129.5(ZIC2):c.1490G>A (p.Gly497Glu)
|
|
|
NM_007129.5(ZIC2):c.1490G>C (p.Gly497Ala)
|
|
|
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=)
|
rs186543347
|
|
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=)
|
rs186543347
|
|
NM_007129.5(ZIC2):c.14C>T (p.Ala5Val)
|
rs2152162144
|
|
NM_007129.5(ZIC2):c.1501_1524del (p.Gly501_Gly508del)
|
rs973238177
|
|
NM_007129.5(ZIC2):c.1505_1516del (p.Ala502_Gly505del)
|
rs777893609
|
|
NM_007129.5(ZIC2):c.1505_1516dup (p.Ala502_Gly505dup)
|
rs777893609
|
|
NM_007129.5(ZIC2):c.1517G>A (p.Gly506Asp)
|
|
|
NM_007129.5(ZIC2):c.1519_1539del (p.Gly507_Gly513del)
|
|
|
NM_007129.5(ZIC2):c.1521C>T (p.Gly507=)
|
|
|
NM_007129.5(ZIC2):c.1525A>G (p.Ser509Gly)
|
|
|
NM_007129.5(ZIC2):c.1535G>C (p.Gly512Ala)
|
|
|
NM_007129.5(ZIC2):c.1536G>A (p.Gly512=)
|
|
|
NM_007129.5(ZIC2):c.1536G>C (p.Gly512=)
|
rs557916722
|
|
NM_007129.5(ZIC2):c.1538G>A (p.Gly513Asp)
|
|
|
NM_007129.5(ZIC2):c.1541G>A (p.Ser514Asn)
|
|
|
NM_007129.5(ZIC2):c.1558C>G (p.His520Asp)
|
|
|
NM_007129.5(ZIC2):c.1563C>A (p.Ser521Arg)
|
rs1279334299
|
|
NM_007129.5(ZIC2):c.1572C>A (p.Ser524=)
|
|
|
NM_007129.5(ZIC2):c.1573T>A (p.Ser525Thr)
|
|
|
NM_007129.5(ZIC2):c.1599_*4dup (p.Ter533=)
|
|
|
NM_007129.5(ZIC2):c.167A>C (p.His56Pro)
|
|
|
NM_007129.5(ZIC2):c.176C>A (p.Ala59Asp)
|
|
|
NM_007129.5(ZIC2):c.192G>C (p.Pro64=)
|
|
|
NM_007129.5(ZIC2):c.195C>T (p.Gly65=)
|
|
|
NM_007129.5(ZIC2):c.1A>T (p.Met1Leu)
|
rs2152162142
|
|
NM_007129.5(ZIC2):c.210C>G (p.Ser70=)
|
|
|
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)
|
rs2053238266
|
|
NM_007129.5(ZIC2):c.231C>G (p.Phe77Leu)
|
|
|
NM_007129.5(ZIC2):c.242_253dup (p.Ala84_Tyr85insCysProGlyAla)
|
|
|
NM_007129.5(ZIC2):c.260G>A (p.Gly87Asp)
|
rs1230397352
|
|
NM_007129.5(ZIC2):c.273_284del (p.Ala94_Ala97del)
|
|
|
NM_007129.5(ZIC2):c.27C>T (p.Phe9=)
|
|
|
NM_007129.5(ZIC2):c.282G>T (p.Ala94=)
|
|
|
NM_007129.5(ZIC2):c.298C>T (p.Pro100Ser)
|
|
|
NM_007129.5(ZIC2):c.2T>C (p.Met1Thr)
|
|
|
NM_007129.5(ZIC2):c.300C>T (p.Pro100=)
|
|
|
NM_007129.5(ZIC2):c.330G>A (p.Gly110=)
|
|
|
NM_007129.5(ZIC2):c.358C>T (p.Leu120=)
|
|
|
NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)
|
|
|
NM_007129.5(ZIC2):c.393G>T (p.Pro131=)
|
|
|
NM_007129.5(ZIC2):c.399C>T (p.Gly133=)
|
|
|
NM_007129.5(ZIC2):c.412C>T (p.Leu138=)
|
|
|
NM_007129.5(ZIC2):c.41T>C (p.Val14Ala)
|
rs2152162162
|
|
NM_007129.5(ZIC2):c.441C>T (p.His147=)
|
|
|
NM_007129.5(ZIC2):c.447_611dup (p.Pro204_Tyr205insHisSerAspAlaGlnGlyHisLeuLeuPheProGlyLeuProGluGlnHisGlyProHisGlySerGlnAsnValLeuAsnGlyGlnMetArgLeuGlyLeuProGlyGluValPheGlyArgSerGluGlnTyrArgGlnValAlaSerProArgThrAspPro)
|
|
|
NM_007129.5(ZIC2):c.450C>G (p.His150Gln)
|
rs1284001088
|
|
NM_007129.5(ZIC2):c.450C>T (p.His150=)
|
|
|
NM_007129.5(ZIC2):c.463G>A (p.Gly155Ser)
|
|
|
NM_007129.5(ZIC2):c.465C>A (p.Gly155=)
|
|
|
NM_007129.5(ZIC2):c.472C>T (p.Leu158Phe)
|
|
|
NM_007129.5(ZIC2):c.480G>C (p.Pro160=)
|
|
|
NM_007129.5(ZIC2):c.489A>G (p.Pro163=)
|
|
|
NM_007129.5(ZIC2):c.497A>G (p.His166Arg)
|
|
|
NM_007129.5(ZIC2):c.506A>T (p.His169Leu)
|
|
|
NM_007129.5(ZIC2):c.507C>A (p.His169Gln)
|
rs534770914
|
|
NM_007129.5(ZIC2):c.507C>T (p.His169=)
|
|
|
NM_007129.5(ZIC2):c.525C>T (p.Leu175=)
|
|
|
NM_007129.5(ZIC2):c.52G>C (p.Ala18Pro)
|
rs2152162171
|
|
NM_007129.5(ZIC2):c.543C>G (p.Leu181=)
|
|
|
NM_007129.5(ZIC2):c.54G>T (p.Ala18=)
|
|
|
NM_007129.5(ZIC2):c.552C>G (p.Pro184=)
|
rs554801676
|
|
NM_007129.5(ZIC2):c.554G>A (p.Gly185Asp)
|
|
|
NM_007129.5(ZIC2):c.57C>T (p.Arg19=)
|
|
|
NM_007129.5(ZIC2):c.601C>A (p.Arg201=)
|
|
|
NM_007129.5(ZIC2):c.615C>T (p.Tyr205=)
|
|
|
NM_007129.5(ZIC2):c.660C>T (p.Asn220=)
|
|
|
NM_007129.5(ZIC2):c.665_676del (p.Gly222_Met225del)
|
rs980165353
|
|
NM_007129.5(ZIC2):c.673A>G (p.Met225Val)
|
rs953472306
|
|
NM_007129.5(ZIC2):c.683C>G (p.Ala228Gly)
|
rs2152162577
|
|
NM_007129.5(ZIC2):c.687G>A (p.Ala229=)
|
rs1404616638
|
|
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.692ACC[11] (p.His238_His239dup)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.692ACC[12] (p.His237_His239dup)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.692ACC[5] (p.His236_His239del)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.692ACC[7] (p.His238_His239del)
|
|
|
NM_007129.5(ZIC2):c.692ACC[8] (p.His239del)
|
rs398124241
|
|
NM_007129.5(ZIC2):c.6C>T (p.Leu2=)
|
|
|
NM_007129.5(ZIC2):c.707A>G (p.His236Arg)
|
|
|
NM_007129.5(ZIC2):c.722del (p.Gly241fs)
|
|
|
NM_007129.5(ZIC2):c.739A>G (p.Met247Val)
|
rs2053243222
|
|
NM_007129.5(ZIC2):c.744G>A (p.Arg248=)
|
rs773487576
|
|
NM_007129.5(ZIC2):c.754A>G (p.Ile252Val)
|
|
|
NM_007129.5(ZIC2):c.762G>A (p.Gln254=)
|
|
|
NM_007129.5(ZIC2):c.771C>T (p.Ile257=)
|
|
|
NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)
|
|
|
NM_007129.5(ZIC2):c.77C>G (p.Ala26Gly)
|
|
|
NM_007129.5(ZIC2):c.78GGC[2] (p.Ala31_Ala33del)
|
rs748109787
|
|
NM_007129.5(ZIC2):c.78GGC[6] (p.Ala33_Glu34insAla)
|
|
|
NM_007129.5(ZIC2):c.795A>G (p.Gln265=)
|
|
|
NM_007129.5(ZIC2):c.804T>C (p.Asn268=)
|
|
|
NM_007129.5(ZIC2):c.809A>G (p.Lys270Arg)
|
|
|
NM_007129.5(ZIC2):c.810G>A (p.Lys270=)
|
|
|
NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn)
|
|
|
NM_007129.5(ZIC2):c.813G>A (p.Lys271=)
|
|
|
NM_007129.5(ZIC2):c.816C>T (p.Ser272=)
|
|
|
NM_007129.5(ZIC2):c.824A>G (p.Lys275Arg)
|
|
|
NM_007129.5(ZIC2):c.825A>T (p.Lys275Asn)
|
rs751270785
|
|
NM_007129.5(ZIC2):c.841C>T (p.His281Tyr)
|
|
|
NM_007129.5(ZIC2):c.853A>T (p.Thr285Ser)
|
|
|
NM_007129.5(ZIC2):c.858C>G (p.His286Gln)
|
rs1325393230
|
|
NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter)
|
|
|
NM_007129.5(ZIC2):c.937C>T (p.Pro313Ser)
|
|
|
NM_007129.5(ZIC2):c.953A>G (p.Tyr318Cys)
|
|
|
NM_007129.5(ZIC2):c.957A>G (p.Lys319=)
|
rs1448074291
|
|
NM_007129.5(ZIC2):c.95CCG[4] (p.Ala33_Glu34insAlaAla)
|
|
|
NM_007129.5(ZIC2):c.960_961delinsCA (p.Val321Ile)
|
rs2152162752
|
|
NM_007129.5(ZIC2):c.972C>T (p.Ile324=)
|
|
|
NM_007129.5(ZIC2):c.973C>T (p.Arg325Cys)
|
rs2152162756
|
|
NM_007129.5(ZIC2):c.983C>A (p.Thr328Lys)
|
rs2053244542
|
|
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile)
|
rs2053244542
|
|