ClinVar Miner

List of variants studied for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 844
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_001374353.1(GLI2):c.643+35T>C rs12617878 0.77226
NM_001374353.1(GLI2):c.643+24G>A rs12614482 0.77219
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_001374353.1(GLI2):c.2242+35A>G rs2276553 0.62175
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_001374353.1(GLI2):c.*816G>C rs2278741 0.60767
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.*569T>A rs75544832 0.02885
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.-7G>A rs112131051 0.00890
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001374353.1(GLI2):c.*1826T>G rs139459477 0.00827
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297 0.00772
NM_001374353.1(GLI2):c.*1785A>G rs150539352 0.00724
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.*118C>T rs190824141 0.00405
NM_001374353.1(GLI2):c.*1375A>C rs200730065 0.00356
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.*42C>T rs185228238 0.00257
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.*1895G>A rs76865566 0.00083
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.*963A>T rs191669588 0.00039
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.*1332T>C rs150397467 0.00036
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.4064G>A (p.Arg1355Gln) rs201915462 0.00018
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.1905+7G>A rs372198430 0.00014
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.*1660T>A rs931192232 0.00011
NM_001374353.1(GLI2):c.*419C>T rs370777016 0.00011
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.220C>T (p.His74Tyr) rs201945889 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_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024 0.00009
NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu) rs760189276 0.00009
NM_007129.5(ZIC2):c.552C>T (p.Pro184=) rs554801676 0.00009
NM_001374353.1(GLI2):c.*1029C>T rs182760827 0.00008
NM_001374353.1(GLI2):c.1173G>A (p.Ala391=) rs144819008 0.00008
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.*411C>T rs1473731779 0.00005
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.*1819T>C rs754885960 0.00004
NM_001374353.1(GLI2):c.*31G>A rs377195281 0.00004
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.1195G>A (p.Asp399Asn) rs766171973 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.2131C>T (p.Arg711Trp) rs1397888063 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.2689C>T (p.Arg897Trp) rs763893593 0.00004
NM_001374353.1(GLI2):c.270C>T (p.Ser90=) rs370629096 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.413C>T (p.Thr138Met) rs148317983 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.-1G>C rs369138377 0.00003
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.3186C>T (p.Asp1062=) rs769533860 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.1309C>G (p.Leu437Val) rs1159158222 0.00002
NM_001374353.1(GLI2):c.148+15G>A rs182618064 0.00002
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.1906-4G>A rs373446304 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.2395G>T (p.Ala799Ser) rs767780220 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.4255G>A (p.Ala1419Thr) rs376388820 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_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078 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.*1735T>C rs376387656 0.00001
NM_001374353.1(GLI2):c.*1888T>G rs747928542 0.00001
NM_001374353.1(GLI2):c.*1947G>A rs938514119 0.00001
NM_001374353.1(GLI2):c.*712G>C rs1471633224 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
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.152C>G (p.Pro51Arg) rs780172791 0.00001
NM_001374353.1(GLI2):c.1633-7T>A rs532360271 0.00001
NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg) rs777362312 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys) rs1181629972 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.2831C>T (p.Ala944Val) rs1357813577 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.31G>A (p.Glu11Lys) rs574656730 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.4226C>T (p.Ser1409Leu) rs1215590067 0.00001
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=) rs1683233094 0.00001
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly) rs754008467 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.686G>A (p.Arg229His) rs755043644 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.418G>C (p.Gly140Arg) rs1164231504 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
1 bp del G 7
GLI2, 1-BP DEL, NT2274
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
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.*1628G>T rs886054827
NM_001374353.1(GLI2):c.*1753C>T rs1683325270
NM_001374353.1(GLI2):c.*285G>A rs536145925
NM_001374353.1(GLI2):c.*378A>G rs886054820
NM_001374353.1(GLI2):c.*795T>C rs1015813455
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.1108del (p.Ala370fs)
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.1183-12C>T
NM_001374353.1(GLI2):c.1183-45del
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.1272G>A (p.Trp424Ter) rs121917707
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.1384C>G (p.Arg462Gly) rs121917708
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.146G>A (p.Gly49Glu) rs1684453085
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.149-14C>G rs1679731984
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.1571A>T (p.Asn524Ile) rs2105064513
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.162_163del (p.Leu55fs) rs778975466
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.1917C>T (p.Ser639=) rs377642084
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.198G>A (p.Met66Ile) rs2104869716
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.2454del (p.Ser819fs)
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.2683A>G (p.Ser895Gly) rs1683106609
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.2743C>T (p.Pro915Ser)
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.2873G>T (p.Arg958Leu) rs1477746607
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.2955C>G (p.Ala985=) rs886054814
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.3125_3126insTA (p.Leu1043fs)
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.3210dup (p.Thr1071fs) rs1057518689
NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=) rs886054815
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.3416C>T (p.Ala1139Val) rs886054816
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.3452A>G (p.Gln1151Arg)
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.3596T>A (p.Ile1199Asn) rs886054817
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.3625C>T (p.Arg1209Ter) rs1683184865
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.3810A>C (p.Glu1270Asp) rs2105094470
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.3886C>A (p.Pro1296Thr) rs767845340
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.4291T>C (p.Tyr1431His) rs1683228767
NM_001374353.1(GLI2):c.4292A>G (p.Tyr1431Cys)
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp) rs1683230678
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.4603A>T (p.Thr1535Ser) rs1057518657
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.864_865del (p.His289fs) rs398122882
NM_001374353.1(GLI2):c.891del (p.Gln297fs) rs1057518696
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_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
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.1042_1048del (p.Glu348fs) rs397515365
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.1085_1131del (p.Pro362fs) rs1555332362
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=) rs996264199
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) rs397515500
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer) rs1060499562
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys) rs2053256269
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) rs1060499564
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.1204_1214del (p.Tyr402fs)
NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs)
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.1245T>G (p.His415Gln) rs794729641
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.1318dup (p.Leu440fs) rs397515364
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.1366GCN[45] (p.Ala456[15])
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
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)
NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup) rs762700653
NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del) rs2152163821
NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)
NM_007129.5(ZIC2):c.1383G>C (p.Ala461=)
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.143G>C (p.Gly48Ala)
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.321del (p.Tyr108fs) rs1555332212
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.381_382del (p.Asp128fs) rs1456001894
NM_007129.5(ZIC2):c.393G>T (p.Pro131=)
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
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.716A>C (p.His239Pro) rs2053242975
NM_007129.5(ZIC2):c.718_720del (p.Pro240del) rs957547266
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.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.795A>G (p.Gln265=)
NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
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.856C>T (p.His286Tyr) rs2152162715
NM_007129.5(ZIC2):c.857_858del (p.His286fs) rs2152162709
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) rs1325393230
NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter)
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
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

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