ClinVar Miner

List of variants in gene DCLRE1C studied for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1029
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.109+176G>A rs3814176 0.64311
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.781-17C>G rs41298886 0.04519
NM_001033855.3(DCLRE1C):c.*1287T>C rs41300698 0.02114
NM_001033855.3(DCLRE1C):c.*975G>A rs116007944 0.01257
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001033855.3(DCLRE1C):c.*1125T>C rs41300692 0.01017
NM_001033855.3(DCLRE1C):c.*848A>G rs41300684 0.01016
NM_001033855.3(DCLRE1C):c.*1339G>C rs41300700 0.01003
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_001033855.3(DCLRE1C):c.*752T>C rs41300682 0.00758
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.*551G>A rs373280996 0.00327
NM_001033855.3(DCLRE1C):c.*792A>C rs191042274 0.00283
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.*1394C>T rs75676336 0.00248
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00222
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001033855.3(DCLRE1C):c.*555A>G rs568873828 0.00189
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_001033855.3(DCLRE1C):c.*179G>A rs188107018 0.00097
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00085
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511 0.00076
NM_001033855.3(DCLRE1C):c.*1186T>G rs558392829 0.00073
NM_001033855.3(DCLRE1C):c.*1215C>T rs532698576 0.00072
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.*1280C>T rs554974498 0.00070
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00063
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.*616T>C rs566371862 0.00056
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.*759T>C rs550717857 0.00054
NM_001033855.3(DCLRE1C):c.*429C>T rs557496672 0.00053
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695 0.00051
NM_001033855.3(DCLRE1C):c.537+20C>A rs199843069 0.00044
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769 0.00033
NM_001033855.3(DCLRE1C):c.*220del rs886046848 0.00032
NM_001033855.3(DCLRE1C):c.*391C>T rs189798814 0.00030
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064 0.00030
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439 0.00028
NM_001033855.3(DCLRE1C):c.973-1801T>A rs557886549 0.00027
NM_001033855.3(DCLRE1C):c.*1525A>T rs552656235 0.00024
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998 0.00019
NM_001033855.3(DCLRE1C):c.306+14A>G rs571280873 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573 0.00016
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001033855.3(DCLRE1C):c.375G>A (p.Gln125=) rs150951839 0.00015
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00014
NM_001033855.3(DCLRE1C):c.*1236A>G rs754767922 0.00013
NM_001033855.3(DCLRE1C):c.1595T>G (p.Ile532Ser) rs769134680 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser) rs144641461 0.00011
NM_001033855.3(DCLRE1C):c.537+13G>A rs372309093 0.00011
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) rs778439805 0.00011
NM_001033855.3(DCLRE1C):c.746G>A (p.Arg249His) rs374838779 0.00011
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=) rs149039288 0.00011
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) rs750692726 0.00010
NM_001033855.3(DCLRE1C):c.*1407C>T rs886046834 0.00009
NM_001033855.3(DCLRE1C):c.*490T>C rs1466184504 0.00009
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849 0.00009
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_001033855.3(DCLRE1C):c.679-6C>T rs201040496 0.00009
NM_001033855.3(DCLRE1C):c.1061+19T>C rs895355133 0.00008
NM_001033855.3(DCLRE1C):c.1435C>T (p.Leu479=) rs764005111 0.00007
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00007
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) rs369844484 0.00007
NM_001033855.3(DCLRE1C):c.*11C>T rs374087349 0.00006
NM_001033855.3(DCLRE1C):c.1218A>G (p.Pro406=) rs1043126231 0.00006
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569 0.00006
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00006
NM_001033855.3(DCLRE1C):c.2004A>G (p.Gln668=) rs150063030 0.00006
NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val) rs182977883 0.00006
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001033855.3(DCLRE1C):c.678+12G>A rs201504698 0.00006
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358 0.00006
NM_001033855.3(DCLRE1C):c.*482T>C rs886046844 0.00005
NM_001033855.3(DCLRE1C):c.1408C>A (p.Gln470Lys) rs750104684 0.00005
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 0.00005
NM_001033855.3(DCLRE1C):c.745C>T (p.Arg249Cys) rs757474059 0.00005
NM_001033855.3(DCLRE1C):c.1062-9T>C rs777718467 0.00004
NM_001033855.3(DCLRE1C):c.114C>T (p.His38=) rs775593307 0.00004
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys) rs746552030 0.00004
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681 0.00004
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938 0.00004
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187 0.00004
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile) rs759929745 0.00004
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr) rs140602902 0.00004
NM_001033855.3(DCLRE1C):c.219G>A (p.Pro73=) rs147784627 0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=) rs191086777 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001033855.3(DCLRE1C):c.380A>G (p.Asn127Ser) rs752558172 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 0.00004
NM_001033855.3(DCLRE1C):c.500C>T (p.Thr167Met) rs149556109 0.00004
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653 0.00004
NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=) rs755495143 0.00004
NM_001033855.3(DCLRE1C):c.84C>T (p.Ala28=) rs772007901 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001033855.3(DCLRE1C):c.*1452G>A rs537383684 0.00003
NM_001033855.3(DCLRE1C):c.*915G>A rs886046837 0.00003
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.1317G>C (p.Glu439Asp) rs755790137 0.00003
NM_001033855.3(DCLRE1C):c.1710T>C (p.Ile570=) rs147993236 0.00003
NM_001033855.3(DCLRE1C):c.177A>G (p.Leu59=) rs781185211 0.00003
NM_001033855.3(DCLRE1C):c.1812T>C (p.Asp604=) rs749027910 0.00003
NM_001033855.3(DCLRE1C):c.1883C>G (p.Thr628Arg) rs140306936 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001033855.3(DCLRE1C):c.246+15T>C rs781019003 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr) rs762266339 0.00003
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881 0.00003
NM_001033855.3(DCLRE1C):c.498T>C (p.Thr166=) rs756168646 0.00003
NM_001033855.3(DCLRE1C):c.567G>A (p.Leu189=) rs1174888095 0.00003
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln) rs528699445 0.00003
NM_001033855.3(DCLRE1C):c.624G>A (p.Ala208=) rs770874430 0.00003
NM_001033855.3(DCLRE1C):c.678+8G>A rs920315432 0.00003
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045 0.00003
NM_001033855.3(DCLRE1C):c.780+4C>T rs769782951 0.00003
NM_001033855.3(DCLRE1C):c.780+7G>A rs373071122 0.00003
NM_001033855.3(DCLRE1C):c.870C>T (p.Ser290=) rs764386986 0.00003
NM_001033855.3(DCLRE1C):c.873C>T (p.Thr291=) rs776618461 0.00003
NM_001033855.3(DCLRE1C):c.917+7G>C rs769082661 0.00003
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099 0.00003
NM_001033855.3(DCLRE1C):c.*238A>C rs80156707 0.00002
NM_001033855.3(DCLRE1C):c.*506G>A rs1205017687 0.00002
NM_001033855.3(DCLRE1C):c.*540A>G rs886046841 0.00002
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val) rs759789901 0.00002
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu) rs146859738 0.00002
NM_001033855.3(DCLRE1C):c.1056C>T (p.Val352=) rs765407675 0.00002
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) rs748164114 0.00002
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.110-7T>G rs930637788 0.00002
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val) rs759039414 0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=) rs532892332 0.00002
NM_001033855.3(DCLRE1C):c.1288A>G (p.Arg430Gly) rs1459486949 0.00002
NM_001033855.3(DCLRE1C):c.1313C>T (p.Ala438Val) rs766009897 0.00002
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) rs774273800 0.00002
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser) rs1482857000 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) rs751811224 0.00002
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser) rs754829084 0.00002
NM_001033855.3(DCLRE1C):c.261C>T (p.Ile87=) rs191086777 0.00002
NM_001033855.3(DCLRE1C):c.309G>A (p.Lys103=) rs543139301 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001033855.3(DCLRE1C):c.405A>G (p.Gly135=) rs375688593 0.00002
NM_001033855.3(DCLRE1C):c.448C>T (p.Leu150=) rs1201104303 0.00002
NM_001033855.3(DCLRE1C):c.464+13G>A rs373522931 0.00002
NM_001033855.3(DCLRE1C):c.486A>G (p.Val162=) rs376612807 0.00002
NM_001033855.3(DCLRE1C):c.558C>G (p.Val186=) rs757296480 0.00002
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122 0.00002
NM_001033855.3(DCLRE1C):c.597C>T (p.Tyr199=) rs121908157 0.00002
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala) rs1056674146 0.00002
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala) rs756395955 0.00002
NM_001033855.3(DCLRE1C):c.771G>A (p.Arg257=) rs983929092 0.00002
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477 0.00002
NM_001033855.3(DCLRE1C):c.972+13C>T rs184413831 0.00002
NM_001033855.3(DCLRE1C):c.*1276C>G rs531017475 0.00001
NM_001033855.3(DCLRE1C):c.*1535A>G rs1352005289 0.00001
NM_001033855.3(DCLRE1C):c.*314G>A rs886046845 0.00001
NM_001033855.3(DCLRE1C):c.*74G>A rs1374817881 0.00001
NM_001033855.3(DCLRE1C):c.*768G>T rs959243137 0.00001
NM_001033855.3(DCLRE1C):c.*772A>G rs773288131 0.00001
NM_001033855.3(DCLRE1C):c.1014T>C (p.Tyr338=) rs748925672 0.00001
NM_001033855.3(DCLRE1C):c.1052T>C (p.Val351Ala) rs1046572671 0.00001
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys) rs541855040 0.00001
NM_001033855.3(DCLRE1C):c.1060A>C (p.Ile354Leu) rs556578962 0.00001
NM_001033855.3(DCLRE1C):c.1062-4T>G rs780826321 0.00001
NM_001033855.3(DCLRE1C):c.1095G>A (p.Thr365=) rs766628291 0.00001
NM_001033855.3(DCLRE1C):c.1157-6C>T rs1373511468 0.00001
NM_001033855.3(DCLRE1C):c.1223C>T (p.Pro408Leu) rs772982087 0.00001
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960 0.00001
NM_001033855.3(DCLRE1C):c.1265C>T (p.Ser422Leu) rs1354336544 0.00001
NM_001033855.3(DCLRE1C):c.1388T>C (p.Val463Ala) rs1564366143 0.00001
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp) rs1834801118 0.00001
NM_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=) rs1213911811 0.00001
NM_001033855.3(DCLRE1C):c.1527C>T (p.Ser509=) rs777600117 0.00001
NM_001033855.3(DCLRE1C):c.1563T>C (p.Leu521=) rs766778472 0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 0.00001
NM_001033855.3(DCLRE1C):c.1616A>G (p.Gln539Arg) rs1331013284 0.00001
NM_001033855.3(DCLRE1C):c.162-10T>C rs772500940 0.00001
NM_001033855.3(DCLRE1C):c.162-1G>T rs149090997 0.00001
NM_001033855.3(DCLRE1C):c.162-6T>C rs1337543848 0.00001
NM_001033855.3(DCLRE1C):c.1672G>A (p.Val558Ile) rs1834759314 0.00001
NM_001033855.3(DCLRE1C):c.1680A>G (p.Leu560=) rs1248801770 0.00001
NM_001033855.3(DCLRE1C):c.1686C>G (p.Ser562=) rs1375156921 0.00001
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884 0.00001
NM_001033855.3(DCLRE1C):c.1694G>T (p.Arg565Ile) rs1834755037 0.00001
NM_001033855.3(DCLRE1C):c.1734C>T (p.Tyr578=) rs755018546 0.00001
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser) rs749263367 0.00001
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln) rs1368413064 0.00001
NM_001033855.3(DCLRE1C):c.1749A>G (p.Lys583=) rs1262216079 0.00001
NM_001033855.3(DCLRE1C):c.1771A>G (p.Met591Val) rs751968783 0.00001
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile) rs1270446904 0.00001
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491 0.00001
NM_001033855.3(DCLRE1C):c.1798G>C (p.Asp600His) rs772593258 0.00001
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala) rs1328876117 0.00001
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr) rs768407082 0.00001
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=) rs749159797 0.00001
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612 0.00001
NM_001033855.3(DCLRE1C):c.1914T>C (p.Asn638=) rs1564362421 0.00001
NM_001033855.3(DCLRE1C):c.1938G>A (p.Gln646=) rs755325293 0.00001
NM_001033855.3(DCLRE1C):c.1944T>C (p.Ser648=) rs761424494 0.00001
NM_001033855.3(DCLRE1C):c.1964C>T (p.Ser655Leu) rs775156782 0.00001
NM_001033855.3(DCLRE1C):c.2038A>T (p.Ile680Leu) rs764886664 0.00001
NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro) rs151259511 0.00001
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372 0.00001
NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr) rs748686886 0.00001
NM_001033855.3(DCLRE1C):c.246+10A>G rs374757450 0.00001
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 0.00001
NM_001033855.3(DCLRE1C):c.267T>G (p.Thr89=) rs375091202 0.00001
NM_001033855.3(DCLRE1C):c.27C>G (p.Ala9=) rs756715291 0.00001
NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=) rs1840574128 0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158 0.00001
NM_001033855.3(DCLRE1C):c.306+13T>G rs371265213 0.00001
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=) rs768356794 0.00001
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp) rs1477434785 0.00001
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser) rs1443020418 0.00001
NM_001033855.3(DCLRE1C):c.357A>G (p.Ser119=) rs757569484 0.00001
NM_001033855.3(DCLRE1C):c.362+19T>A rs376946731 0.00001
NM_001033855.3(DCLRE1C):c.362+9G>A rs1839950577 0.00001
NM_001033855.3(DCLRE1C):c.384T>C (p.Asn128=) rs886046850 0.00001
NM_001033855.3(DCLRE1C):c.402A>G (p.Thr134=) rs776459244 0.00001
NM_001033855.3(DCLRE1C):c.415T>C (p.Leu139=) rs773367560 0.00001
NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly) rs756583993 0.00001
NM_001033855.3(DCLRE1C):c.450G>A (p.Leu150=) rs1392587173 0.00001
NM_001033855.3(DCLRE1C):c.464+1G>A rs1162344514 0.00001
NM_001033855.3(DCLRE1C):c.465-18A>C rs746347168 0.00001
NM_001033855.3(DCLRE1C):c.465-8C>G rs1218480223 0.00001
NM_001033855.3(DCLRE1C):c.474C>T (p.Asp158=) rs777317576 0.00001
NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe) rs757929355 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001033855.3(DCLRE1C):c.501G>A (p.Thr167=) rs750407775 0.00001
NM_001033855.3(DCLRE1C):c.519T>C (p.Phe173=) rs1435457844 0.00001
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_001033855.3(DCLRE1C):c.538-4C>T rs1049747642 0.00001
NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu) rs1336396486 0.00001
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328 0.00001
NM_001033855.3(DCLRE1C):c.606G>A (p.Val202=) rs781179035 0.00001
NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile) rs762532423 0.00001
NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val) rs1326360954 0.00001
NM_001033855.3(DCLRE1C):c.662A>G (p.Glu221Gly) rs752880501 0.00001
NM_001033855.3(DCLRE1C):c.679-3T>C rs186192379 0.00001
NM_001033855.3(DCLRE1C):c.687G>A (p.Val229=) rs746051402 0.00001
NM_001033855.3(DCLRE1C):c.711C>T (p.Asn237=) rs1403111821 0.00001
NM_001033855.3(DCLRE1C):c.756G>C (p.Gln252His) rs1249898599 0.00001
NM_001033855.3(DCLRE1C):c.780+5G>A rs1392493001 0.00001
NM_001033855.3(DCLRE1C):c.781-6T>C rs1243099678 0.00001
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317 0.00001
NM_001033855.3(DCLRE1C):c.849C>T (p.His283=) rs1181812527 0.00001
NM_001033855.3(DCLRE1C):c.855C>T (p.Ile285=) rs1312288472 0.00001
NM_001033855.3(DCLRE1C):c.909A>C (p.Val303=) rs1194563521 0.00001
NM_001033855.3(DCLRE1C):c.934T>C (p.Tyr312His) rs1470101838 0.00001
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val) rs1838083133 0.00001
NC_000010.10:g.(?_14946600)_(14951339_?)del
NC_000010.10:g.(?_14950407)_(14981888_?)del
NC_000010.10:g.(?_14953179)_(14961841_?)del
NC_000010.10:g.(?_14961717)_(14996009_?)dup
NC_000010.10:g.(?_14964960)_(14966845_?)del
NC_000010.10:g.(?_14969995)_(14974974_?)dup
NC_000010.10:g.(?_14974833)_(14981888_?)del
NC_000010.10:g.(?_14976359)_(14976794_?)del
NC_000010.10:g.(?_14976359)_(14996009_?)del
NC_000010.10:g.(?_14976359)_(14996009_?)dup
NC_000010.10:g.(?_14976682)_(14996009_?)dup
NC_000010.10:g.(?_14976692)_(14996009_?)del
NC_000010.10:g.(?_14977442)_(14977583_?)del
NC_000010.10:g.(?_14977442)_(14996009_?)del
NC_000010.10:g.(?_14977442)_(14996029_?)del
NC_000010.10:g.(?_14977452)_(14978602_?)del
NC_000010.10:g.(?_14977452)_(14996009_?)del
NC_000010.10:g.(?_14978517)_(14981888_?)dup
NC_000010.10:g.(?_14978527)_(14978602_?)del
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14981789)_(14996009_?)del
NC_000010.10:g.(?_14981789)_(14996009_?)dup
NC_000010.10:g.(?_14981789)_(14996029_?)del
NC_000010.10:g.(?_14981799)_(14981878_?)del
NC_000010.10:g.(?_14981799)_(14981878_?)dup
NC_000010.10:g.(?_14981799)_(14996009_?)del
NC_000010.10:g.(?_14987084)_(14996009_?)del
NC_000010.10:g.(?_14987084)_(14996009_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.10:g.(?_14989514)_(14996441_?)del
NC_000010.10:g.(?_14991015)_(14991106_?)del
NC_000010.10:g.(?_14995881)_(14996009_?)dup
NC_000010.10:g.(?_14995891)_(14996441_?)del
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939790)_(14954030_?)dup
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.14935443_14954030del
NG_007276.1:g.(19287_22502)_(23634_24320)del
NG_007276.1:g.(?_5047)_(19287_22502)del
NM_001033855.3(DCLRE1C):c.*1044A>G rs1834496493
NM_001033855.3(DCLRE1C):c.*1060G>A rs886046835
NM_001033855.3(DCLRE1C):c.*1064A>G rs41300688
NM_001033855.3(DCLRE1C):c.*1108G>C rs1305891604
NM_001033855.3(DCLRE1C):c.*1174G>A rs41300694
NM_001033855.3(DCLRE1C):c.*1216G>A rs41300696
NM_001033855.3(DCLRE1C):c.*1390T>C rs12245956
NM_001033855.3(DCLRE1C):c.*1390T>G rs12245956
NM_001033855.3(DCLRE1C):c.*1408G>A rs886046833
NM_001033855.3(DCLRE1C):c.*1487G>C rs528458946
NM_001033855.3(DCLRE1C):c.*154G>T rs886046849
NM_001033855.3(DCLRE1C):c.*241_*242del rs750020058
NM_001033855.3(DCLRE1C):c.*306G>A rs886046846
NM_001033855.3(DCLRE1C):c.*529del rs886046843
NM_001033855.3(DCLRE1C):c.*530A>C rs886046842
NM_001033855.3(DCLRE1C):c.*550A>G rs36017616
NM_001033855.3(DCLRE1C):c.*550del rs60410513
NM_001033855.3(DCLRE1C):c.*550dup rs60410513
NM_001033855.3(DCLRE1C):c.*560dup rs886046838
NM_001033855.3(DCLRE1C):c.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*770_*773dup rs770468446
NM_001033855.3(DCLRE1C):c.*878C>G rs575242970
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970
NM_001033855.3(DCLRE1C):c.*916_*921del rs886046836
NM_001033855.3(DCLRE1C):c.*949G>C rs535208039
NM_001033855.3(DCLRE1C):c.1011A>G (p.Ala337=)
NM_001033855.3(DCLRE1C):c.1020T>C (p.Asn340=)
NM_001033855.3(DCLRE1C):c.1029A>G (p.Pro343=) rs2130785559
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala) rs769742765
NM_001033855.3(DCLRE1C):c.1035C>T (p.Gly345=) rs2130785485
NM_001033855.3(DCLRE1C):c.1036A>G (p.Thr346Ala)
NM_001033855.3(DCLRE1C):c.1039A>G (p.Thr347Ala)
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1053T>C (p.Val351=) rs758671214
NM_001033855.3(DCLRE1C):c.1055T>C (p.Val352Ala) rs752942378
NM_001033855.3(DCLRE1C):c.1058A>G (p.Glu353Gly) rs1837362613
NM_001033855.3(DCLRE1C):c.105C>T (p.His35=)
NM_001033855.3(DCLRE1C):c.1061+12C>G rs2130784868
NM_001033855.3(DCLRE1C):c.1061+15G>T
NM_001033855.3(DCLRE1C):c.1061+16T>C
NM_001033855.3(DCLRE1C):c.1061+17T>C
NM_001033855.3(DCLRE1C):c.1061+1G>A
NM_001033855.3(DCLRE1C):c.1061+20G>C
NM_001033855.3(DCLRE1C):c.1061+9T>A
NM_001033855.3(DCLRE1C):c.1062-12G>A
NM_001033855.3(DCLRE1C):c.1062-18T>A
NM_001033855.3(DCLRE1C):c.1062-8C>A
NM_001033855.3(DCLRE1C):c.1062-9dup
NM_001033855.3(DCLRE1C):c.1067A>C (p.Lys356Thr) rs1836805445
NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)
NM_001033855.3(DCLRE1C):c.1073T>C (p.Leu358Ser) rs2130743286
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)
NM_001033855.3(DCLRE1C):c.1088A>G (p.Gln363Arg) rs1213080376
NM_001033855.3(DCLRE1C):c.109+10G>A rs2131237889
NM_001033855.3(DCLRE1C):c.109+12C>T
NM_001033855.3(DCLRE1C):c.109+13T>A
NM_001033855.3(DCLRE1C):c.109+14G>A
NM_001033855.3(DCLRE1C):c.109+17C>A
NM_001033855.3(DCLRE1C):c.109+17C>T
NM_001033855.3(DCLRE1C):c.109+19T>C
NM_001033855.3(DCLRE1C):c.109+20C>T
NM_001033855.3(DCLRE1C):c.109+7G>C rs2131237998
NM_001033855.3(DCLRE1C):c.109+8A>T rs749519637
NM_001033855.3(DCLRE1C):c.1094C>T (p.Thr365Met)
NM_001033855.3(DCLRE1C):c.110-12T>C
NM_001033855.3(DCLRE1C):c.110-16G>T
NM_001033855.3(DCLRE1C):c.110-17del
NM_001033855.3(DCLRE1C):c.110-3del rs1310434338
NM_001033855.3(DCLRE1C):c.110-7T>A
NM_001033855.3(DCLRE1C):c.110-9T>C
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1104G>A (p.Lys368=)
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys) rs1836798077
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)
NM_001033855.3(DCLRE1C):c.1107T>C (p.Tyr369=)
NM_001033855.3(DCLRE1C):c.1110A>G (p.Lys370=)
NM_001033855.3(DCLRE1C):c.1113A>C (p.Pro371=) rs1412937178
NM_001033855.3(DCLRE1C):c.1113A>G (p.Pro371=) rs1412937178
NM_001033855.3(DCLRE1C):c.111T>C (p.Asp37=)
NM_001033855.3(DCLRE1C):c.1132G>T (p.Ala378Ser)
NM_001033855.3(DCLRE1C):c.1134T>C (p.Ala378=) rs2130742136
NM_001033855.3(DCLRE1C):c.1147C>G (p.Arg383Gly) rs752241422
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
NM_001033855.3(DCLRE1C):c.1149A>G (p.Arg383=)
NM_001033855.3(DCLRE1C):c.1156+1G>A
NM_001033855.3(DCLRE1C):c.1156+1G>C
NM_001033855.3(DCLRE1C):c.1156+20G>T
NM_001033855.3(DCLRE1C):c.1156+2T>G
NM_001033855.3(DCLRE1C):c.1157-11T>C
NM_001033855.3(DCLRE1C):c.1157-14_1157-10del rs1401796963
NM_001033855.3(DCLRE1C):c.1157-15TTGT[3] rs1834863237
NM_001033855.3(DCLRE1C):c.1157-18_1157-16dup
NM_001033855.3(DCLRE1C):c.1157-4A>G
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)
NM_001033855.3(DCLRE1C):c.1161_1163del rs1437681771
NM_001033855.3(DCLRE1C):c.1165G>T (p.Asp389Tyr) rs1379146832
NM_001033855.3(DCLRE1C):c.1170C>T (p.Asp390=)
NM_001033855.3(DCLRE1C):c.1174C>G (p.Leu392Val)
NM_001033855.3(DCLRE1C):c.1174C>T (p.Leu392Phe)
NM_001033855.3(DCLRE1C):c.1176C>G (p.Leu392=) rs2131780176
NM_001033855.3(DCLRE1C):c.1176C>T (p.Leu392=) rs2131780176
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)
NM_001033855.3(DCLRE1C):c.1179T>C (p.Phe393=)
NM_001033855.3(DCLRE1C):c.1182T>C (p.Asp394=) rs2131780112
NM_001033855.3(DCLRE1C):c.1185T>A (p.Asp395Glu)
NM_001033855.3(DCLRE1C):c.1192C>T (p.Pro398Ser)
NM_001033855.3(DCLRE1C):c.1193C>T (p.Pro398Leu) rs2131780031
NM_001033855.3(DCLRE1C):c.1201T>C (p.Leu401=) rs2131779956
NM_001033855.3(DCLRE1C):c.1203A>G (p.Leu401=) rs765990122
NM_001033855.3(DCLRE1C):c.1208A>G (p.His403Arg)
NM_001033855.3(DCLRE1C):c.1212A>T (p.Lys404Asn)
NM_001033855.3(DCLRE1C):c.1219T>C (p.Tyr407His)
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter) rs1296189593
NM_001033855.3(DCLRE1C):c.1221C>T (p.Tyr407=) rs1296189593
NM_001033855.3(DCLRE1C):c.1230T>C (p.Thr410=) rs1398018162
NM_001033855.3(DCLRE1C):c.1233T>G (p.Phe411Leu)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1241A>G (p.Glu414Gly) rs1834845817
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
NM_001033855.3(DCLRE1C):c.1248T>C (p.Phe416=)
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala) rs1013537366
NM_001033855.3(DCLRE1C):c.1259_1266dup (p.Glu423fs) rs755447150
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1268A>G (p.Glu423Gly)
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
NM_001033855.3(DCLRE1C):c.1285C>T (p.Leu429=) rs752137206
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
NM_001033855.3(DCLRE1C):c.1287G>A (p.Leu429=) rs115081573
NM_001033855.3(DCLRE1C):c.1292A>C (p.Gln431Pro)
NM_001033855.3(DCLRE1C):c.1296C>A (p.Thr432=) rs954715514
NM_001033855.3(DCLRE1C):c.1299A>C (p.Pro433=) rs2131778731
NM_001033855.3(DCLRE1C):c.1299A>G (p.Pro433=)
NM_001033855.3(DCLRE1C):c.1299_1306del (p.Gly434fs)
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter) rs2131778656
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.1307delinsAGGATGCT (p.Cys436Ter)
NM_001033855.3(DCLRE1C):c.1313_1317del (p.Ala438fs) rs2131778479
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter) rs753674918
NM_001033855.3(DCLRE1C):c.1316_1317del (p.Glu439fs) rs1200768694
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)
NM_001033855.3(DCLRE1C):c.1323G>A (p.Met441Ile)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.1326G>A (p.Gln442=) rs1169255098
NM_001033855.3(DCLRE1C):c.132C>A (p.Ala44=) rs919231089
NM_001033855.3(DCLRE1C):c.1335T>C (p.Arg445=)
NM_001033855.3(DCLRE1C):c.1340C>A (p.Thr447Lys)
NM_001033855.3(DCLRE1C):c.1340C>T (p.Thr447Ile) rs80148779
NM_001033855.3(DCLRE1C):c.1341A>C (p.Thr447=) rs775633789
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)
NM_001033855.3(DCLRE1C):c.1363_1383del (p.Ser455_Glu461del)
NM_001033855.3(DCLRE1C):c.1364C>T (p.Ser455Phe) rs1358066992
NM_001033855.3(DCLRE1C):c.1376G>T (p.Ser459Ile) rs747311091
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile)
NM_001033855.3(DCLRE1C):c.1395C>G (p.Ile465Met) rs2131777299
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln) rs749686038
NM_001033855.3(DCLRE1C):c.1404A>G (p.Ser468=)
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1419G>A (p.Leu473=)
NM_001033855.3(DCLRE1C):c.141G>A (p.Leu47=) rs2131169251
NM_001033855.3(DCLRE1C):c.1422C>A (p.Gly474=) rs2131777003
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) rs1588894157
NM_001033855.3(DCLRE1C):c.1434C>T (p.His478=) rs2131776891
NM_001033855.3(DCLRE1C):c.1437G>C (p.Leu479=) rs762916677
NM_001033855.3(DCLRE1C):c.1437G>T (p.Leu479=) rs762916677
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
NM_001033855.3(DCLRE1C):c.1439A>T (p.Gln480Leu)
NM_001033855.3(DCLRE1C):c.1440A>G (p.Gln480=)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1444G>T (p.Ala482Ser)
NM_001033855.3(DCLRE1C):c.1449T>C (p.Asp483=) rs2131776650
NM_001033855.3(DCLRE1C):c.1452G>A (p.Gly484=)
NM_001033855.3(DCLRE1C):c.1452G>C (p.Gly484=)
NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=) rs747435874
NM_001033855.3(DCLRE1C):c.1464G>A (p.Gln488=) rs772499261
NM_001033855.3(DCLRE1C):c.1465T>C (p.Trp489Arg) rs904814123
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter) rs2131776422
NM_001033855.3(DCLRE1C):c.1467_1468del (p.Trp489_Glu490delinsTer)
NM_001033855.3(DCLRE1C):c.1473A>G (p.Val491=)
NM_001033855.3(DCLRE1C):c.1476_1478del (p.Phe493del)
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys) rs372597855
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter) rs372597855
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp)
NM_001033855.3(DCLRE1C):c.1500A>C (p.Thr500=) rs2131776179
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs) rs2131776130
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
NM_001033855.3(DCLRE1C):c.1504G>A (p.Glu502Lys) rs780875686
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs) rs2131775994
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
NM_001033855.3(DCLRE1C):c.151T>C (p.Leu51=) rs781559298
NM_001033855.3(DCLRE1C):c.1524T>C (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.1527C>A (p.Ser509=)
NM_001033855.3(DCLRE1C):c.1530C>T (p.Ser510=)
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys) rs1834786005
NM_001033855.3(DCLRE1C):c.1536G>A (p.Val512=)
NM_001033855.3(DCLRE1C):c.1536G>T (p.Val512=) rs2131775740
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1543G>A (p.Gly515Arg)
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter) rs1419439468
NM_001033855.3(DCLRE1C):c.1545dup (p.Ser516fs) rs2131775605
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)
NM_001033855.3(DCLRE1C):c.1552T>A (p.Ser518Thr)
NM_001033855.3(DCLRE1C):c.1554A>G (p.Ser518=) rs2131775529
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1557A>G (p.Pro519=) rs2131775488
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs) rs2131775466
NM_001033855.3(DCLRE1C):c.1560G>C (p.Lys520Asn)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1575T>C (p.Ser525=)
NM_001033855.3(DCLRE1C):c.1583A>G (p.Glu528Gly)
NM_001033855.3(DCLRE1C):c.1584A>G (p.Glu528=) rs2131775195
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs) rs1834776385
NM_001033855.3(DCLRE1C):c.1588A>G (p.Thr530Ala) rs921962593
NM_001033855.3(DCLRE1C):c.1590T>C (p.Thr530=)
NM_001033855.3(DCLRE1C):c.1591C>A (p.His531Asn)
NM_001033855.3(DCLRE1C):c.1596C>A (p.Ile532=)
NM_001033855.3(DCLRE1C):c.1599C>T (p.Ser533=) rs2131775018
NM_001033855.3(DCLRE1C):c.1604A>G (p.Gln535Arg) rs887381468
NM_001033855.3(DCLRE1C):c.1605G>A (p.Gln535=) rs1029319156
NM_001033855.3(DCLRE1C):c.161+13G>T
NM_001033855.3(DCLRE1C):c.161+16A>C rs2131168836
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.161+7T>C
NM_001033855.3(DCLRE1C):c.1614C>T (p.Ser538=) rs1398543236
NM_001033855.3(DCLRE1C):c.162-14T>A
NM_001033855.3(DCLRE1C):c.162-16dup
NM_001033855.3(DCLRE1C):c.162-2A>C
NM_001033855.3(DCLRE1C):c.162-7C>T rs1288736896
NM_001033855.3(DCLRE1C):c.1620A>C (p.Ser540=) rs2131774816
NM_001033855.3(DCLRE1C):c.1623A>G (p.Thr541=) rs41300674
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1629A>C (p.Ile543=) rs1282092460
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln) rs1588892650
NM_001033855.3(DCLRE1C):c.1636C>G (p.Gln546Glu)
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
NM_001033855.3(DCLRE1C):c.1640G>T (p.Gly547Val)
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001033855.3(DCLRE1C):c.1650C>T (p.Gly550=)
NM_001033855.3(DCLRE1C):c.1651T>C (p.Trp551Arg) rs779050968
NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=) rs886043100
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs) rs2131774270
NM_001033855.3(DCLRE1C):c.1668T>C (p.Asp556=)
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.1670C>A (p.Thr557Asn) rs750692726
NM_001033855.3(DCLRE1C):c.1674T>C (p.Val558=)
NM_001033855.3(DCLRE1C):c.1677G>A (p.Leu559=)
NM_001033855.3(DCLRE1C):c.1686C>A (p.Ser562=)
NM_001033855.3(DCLRE1C):c.168G>A (p.Lys56=)
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
NM_001033855.3(DCLRE1C):c.1695A>G (p.Arg565=) rs2131773917
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1704G>A (p.Gly568=) rs2131773826
NM_001033855.3(DCLRE1C):c.1704G>C (p.Gly568=)
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)
NM_001033855.3(DCLRE1C):c.1711A>G (p.Thr571Ala) rs775927361
NM_001033855.3(DCLRE1C):c.1713T>C (p.Thr571=) rs2131773687
NM_001033855.3(DCLRE1C):c.1714T>G (p.Ser572Ala) rs770457801
NM_001033855.3(DCLRE1C):c.1735A>C (p.Arg579=) rs2131773371
NM_001033855.3(DCLRE1C):c.1737A>G (p.Arg579=) rs749263367
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1752G>A (p.Glu584=)
NM_001033855.3(DCLRE1C):c.1756_1757del (p.Ile586fs)
NM_001033855.3(DCLRE1C):c.1761T>C (p.Pro587=) rs2131772890
NM_001033855.3(DCLRE1C):c.1764C>T (p.Ala588=) rs1588891334
NM_001033855.3(DCLRE1C):c.1767T>A (p.Ser589=) rs1197140206
NM_001033855.3(DCLRE1C):c.1769T>C (p.Leu590Pro) rs2131772748
NM_001033855.3(DCLRE1C):c.1770C>G (p.Leu590=) rs2131772690
NM_001033855.3(DCLRE1C):c.1773G>A (p.Met591Ile)
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1782T>C (p.Asn594=) rs775980446
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1788T>C (p.Ile596=) rs2131772475
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu) rs2131239353
NM_001033855.3(DCLRE1C):c.1802C>T (p.Thr601Ile) rs1834728922
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1805A>G (p.Tyr602Cys) rs774102624
NM_001033855.3(DCLRE1C):c.1806C>T (p.Tyr602=)
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)
NM_001033855.3(DCLRE1C):c.1809T>G (p.Ser603=) rs1834725809
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.1816A>C (p.Lys606Gln) rs1834723718
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.1820_1821delinsAT (p.Ser607Asn) rs2131771850
NM_001033855.3(DCLRE1C):c.1824A>G (p.Arg608=)
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.1833T>C (p.Asp611=)
NM_001033855.3(DCLRE1C):c.1836G>A (p.Val612=)
NM_001033855.3(DCLRE1C):c.1839A>C (p.Thr613=)
NM_001033855.3(DCLRE1C):c.183T>C (p.Cys61=) rs2131108523
NM_001033855.3(DCLRE1C):c.1846C>T (p.Pro616Ser)
NM_001033855.3(DCLRE1C):c.1848T>C (p.Pro616=) rs1338665936
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.1869T>C (p.Thr623=)
NM_001033855.3(DCLRE1C):c.1878T>C (p.Ser626=)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) rs1588890065
NM_001033855.3(DCLRE1C):c.1888A>G (p.Ile630Val) rs2131770710
NM_001033855.3(DCLRE1C):c.1890A>G (p.Ile630Met) rs201350418
NM_001033855.3(DCLRE1C):c.1893C>A (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs) rs1834703886
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.189T>C (p.Pro63=)
NM_001033855.3(DCLRE1C):c.189T>G (p.Pro63=)
NM_001033855.3(DCLRE1C):c.1902A>G (p.Lys634=) rs778029115
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1906T>A (p.Leu636Met)
NM_001033855.3(DCLRE1C):c.1906T>C (p.Leu636=) rs933422037
NM_001033855.3(DCLRE1C):c.1930G>C (p.Asp644His)
NM_001033855.3(DCLRE1C):c.1932T>C (p.Asp644=) rs2131769885
NM_001033855.3(DCLRE1C):c.1935C>A (p.Ser645=) rs2131769845
NM_001033855.3(DCLRE1C):c.1935C>G (p.Ser645=)
NM_001033855.3(DCLRE1C):c.1936C>T (p.Gln646Ter)
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.1954G>A (p.Glu652Lys)
NM_001033855.3(DCLRE1C):c.1955A>G (p.Glu652Gly)
NM_001033855.3(DCLRE1C):c.1957G>T (p.Val653Phe) rs1449940704
NM_001033855.3(DCLRE1C):c.1959del (p.Ser655fs) rs1834692330
NM_001033855.3(DCLRE1C):c.1963T>C (p.Ser655Pro) rs762670101
NM_001033855.3(DCLRE1C):c.1971A>G (p.Pro657=) rs2131769255
NM_001033855.3(DCLRE1C):c.1972G>A (p.Glu658Lys)
NM_001033855.3(DCLRE1C):c.1977T>A (p.Ala659=) rs2131769178
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)
NM_001033855.3(DCLRE1C):c.1979A>G (p.Glu660Gly) rs2131769121
NM_001033855.3(DCLRE1C):c.1980G>A (p.Glu660=) rs747160002
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1988A>C (p.Lys663Thr) rs2131768961
NM_001033855.3(DCLRE1C):c.1992A>G (p.Arg664=) rs1834685227
NM_001033855.3(DCLRE1C):c.1995G>A (p.Glu665=)
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp) rs1834683814
NM_001033855.3(DCLRE1C):c.1998T>C (p.His666=)
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter) rs1409082603
NM_001033855.3(DCLRE1C):c.2007T>C (p.Tyr669=)
NM_001033855.3(DCLRE1C):c.2010A>G (p.Leu670=)
NM_001033855.3(DCLRE1C):c.2012_2013del (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.2019G>A (p.Lys673=)
NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del) rs753202682
NM_001033855.3(DCLRE1C):c.2022G>A (p.Leu674=)
NM_001033855.3(DCLRE1C):c.2028T>C (p.Thr676=)
NM_001033855.3(DCLRE1C):c.2028T>G (p.Thr676=) rs1186857313
NM_001033855.3(DCLRE1C):c.2031T>G (p.Gly677=) rs752295185
NM_001033855.3(DCLRE1C):c.2032G>A (p.Glu678Lys)
NM_001033855.3(DCLRE1C):c.2040A>T (p.Ile680=) rs2131767938
NM_001033855.3(DCLRE1C):c.2042C>T (p.Ala681Val) rs1834673766
NM_001033855.3(DCLRE1C):c.2046C>T (p.Val682=) rs1455233498
NM_001033855.3(DCLRE1C):c.2047A>C (p.Lys683Gln) rs2131767744
NM_001033855.3(DCLRE1C):c.204G>A (p.Leu68=)
NM_001033855.3(DCLRE1C):c.2050A>T (p.Lys684Ter)
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs) rs915913541
NM_001033855.3(DCLRE1C):c.2061C>T (p.Cys687=)
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.207G>A (p.Leu69=) rs2131108120
NM_001033855.3(DCLRE1C):c.208T>C (p.Leu70=)
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)
NM_001033855.3(DCLRE1C):c.213G>A (p.Thr71=) rs141391272
NM_001033855.3(DCLRE1C):c.21G>A (p.Gln7=) rs939562272
NM_001033855.3(DCLRE1C):c.237G>A (p.Lys79=) rs2131107606
NM_001033855.3(DCLRE1C):c.240A>G (p.Lys80=)
NM_001033855.3(DCLRE1C):c.241C>A (p.Arg81=) rs121908156
NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)
NM_001033855.3(DCLRE1C):c.246+15T>G rs781019003
NM_001033855.3(DCLRE1C):c.246+16T>G
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.246+9T>A rs774905917
NM_001033855.3(DCLRE1C):c.247-10_247-6del rs1840583230
NM_001033855.3(DCLRE1C):c.247-12T>A rs2131027889
NM_001033855.3(DCLRE1C):c.247-16T>C
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694
NM_001033855.3(DCLRE1C):c.247-3T>C
NM_001033855.3(DCLRE1C):c.247-4A>G
NM_001033855.3(DCLRE1C):c.247-5T>C
NM_001033855.3(DCLRE1C):c.247-5T>G
NM_001033855.3(DCLRE1C):c.247-7T>C rs2131027840
NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val) rs746658739
NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)
NM_001033855.3(DCLRE1C):c.252T>C (p.Ser84=) rs2131027424
NM_001033855.3(DCLRE1C):c.252T>G (p.Ser84=) rs2131027424
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr) rs1842835241
NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)
NM_001033855.3(DCLRE1C):c.267T>C (p.Thr89=) rs375091202
NM_001033855.3(DCLRE1C):c.273C>A (p.Thr91=)
NM_001033855.3(DCLRE1C):c.273C>G (p.Thr91=)
NM_001033855.3(DCLRE1C):c.273C>T (p.Thr91=) rs1016148948
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His) rs1840576379
NM_001033855.3(DCLRE1C):c.27C>T (p.Ala9=) rs756715291
NM_001033855.3(DCLRE1C):c.294A>G (p.Glu98=)
NM_001033855.3(DCLRE1C):c.306+15A>C
NM_001033855.3(DCLRE1C):c.306+18A>G
NM_001033855.3(DCLRE1C):c.306+19T>C
NM_001033855.3(DCLRE1C):c.306+1G>A
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C
NM_001033855.3(DCLRE1C):c.306+5C>T
NM_001033855.3(DCLRE1C):c.306+6_306+7insGATTTAATAATCA rs2131026709
NM_001033855.3(DCLRE1C):c.306+9A>C
NM_001033855.3(DCLRE1C):c.307-13A>G
NM_001033855.3(DCLRE1C):c.307-13_307-9del rs2130974342
NM_001033855.3(DCLRE1C):c.307-14T>C
NM_001033855.3(DCLRE1C):c.307-17C>A
NM_001033855.3(DCLRE1C):c.307-17C>G
NM_001033855.3(DCLRE1C):c.307-18T>C
NM_001033855.3(DCLRE1C):c.307-18T>G
NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys)
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile) rs772530008
NM_001033855.3(DCLRE1C):c.321T>G (p.Val107=) rs767258233
NM_001033855.3(DCLRE1C):c.324G>C (p.Val108=) rs1266629487
NM_001033855.3(DCLRE1C):c.327T>C (p.Thr109=) rs2130973752
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
NM_001033855.3(DCLRE1C):c.330C>G (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.331T>A (p.Leu111Ile)
NM_001033855.3(DCLRE1C):c.331T>C (p.Leu111=) rs377443609
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)
NM_001033855.3(DCLRE1C):c.345C>T (p.His115=) rs2130973480
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
NM_001033855.3(DCLRE1C):c.348T>C (p.Cys116=) rs2130973416
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
NM_001033855.3(DCLRE1C):c.350C>A (p.Pro117Gln)
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) rs1839957089
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
NM_001033855.3(DCLRE1C):c.357A>C (p.Ser119=)
NM_001033855.3(DCLRE1C):c.357A>T (p.Ser119=) rs757569484
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu) rs1839954868
NM_001033855.3(DCLRE1C):c.362+14T>A
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.362+2T>A
NM_001033855.3(DCLRE1C):c.362+6G>C
NM_001033855.3(DCLRE1C):c.362+8G>C rs1564446480
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)
NM_001033855.3(DCLRE1C):c.363-15A>G
NM_001033855.3(DCLRE1C):c.363-23_363-15dup
NM_001033855.3(DCLRE1C):c.363-2A>G rs2130956855
NM_001033855.3(DCLRE1C):c.363-4T>C
NM_001033855.3(DCLRE1C):c.363-5T>A rs1839771977
NM_001033855.3(DCLRE1C):c.363-5T>C
NM_001033855.3(DCLRE1C):c.363G>T (p.Met121Ile) rs1839771032
NM_001033855.3(DCLRE1C):c.369A>G (p.Leu123=) rs2130956789
NM_001033855.3(DCLRE1C):c.390T>A (p.Thr130=)
NM_001033855.3(DCLRE1C):c.390T>C (p.Thr130=) rs142549502
NM_001033855.3(DCLRE1C):c.390T>G (p.Thr130=) rs142549502
NM_001033855.3(DCLRE1C):c.393C>A (p.Val131=)
NM_001033855.3(DCLRE1C):c.394C>T (p.Leu132=) rs2130956465
NM_001033855.3(DCLRE1C):c.399C>T (p.Tyr133=) rs764990444
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)
NM_001033855.3(DCLRE1C):c.414A>G (p.Arg138=)
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr) rs752159513
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.420G>C (p.Ala140=) rs146832860
NM_001033855.3(DCLRE1C):c.420G>T (p.Ala140=)
NM_001033855.3(DCLRE1C):c.423A>G (p.Gln141=) rs143949881
NM_001033855.3(DCLRE1C):c.426A>C (p.Gly142=)
NM_001033855.3(DCLRE1C):c.426_464+123del
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) rs1589070600
NM_001033855.3(DCLRE1C):c.453C>T (p.His151=)
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.45C>A (p.Ser15=) rs764872812
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.462C>T (p.Gly154=)
NM_001033855.3(DCLRE1C):c.464+10C>G
NM_001033855.3(DCLRE1C):c.464+12C>T
NM_001033855.3(DCLRE1C):c.464+13G>T
NM_001033855.3(DCLRE1C):c.464+17A>G
NM_001033855.3(DCLRE1C):c.464+18G>C
NM_001033855.3(DCLRE1C):c.464+19G>A rs575451437
NM_001033855.3(DCLRE1C):c.464+19G>C
NM_001033855.3(DCLRE1C):c.464+20T>C
NM_001033855.3(DCLRE1C):c.464+2T>C
NM_001033855.3(DCLRE1C):c.464+8G>A rs2130954924
NM_001033855.3(DCLRE1C):c.464+8G>C rs2130954924
NM_001033855.3(DCLRE1C):c.464+9C>A rs1362074694
NM_001033855.3(DCLRE1C):c.464+9C>T rs1362074694
NM_001033855.3(DCLRE1C):c.465-13T>G
NM_001033855.3(DCLRE1C):c.465-16T>C
NM_001033855.3(DCLRE1C):c.465-16dup rs1478774298
NM_001033855.3(DCLRE1C):c.465-17A>G
NM_001033855.3(DCLRE1C):c.465-1G>A
NM_001033855.3(DCLRE1C):c.465-1G>C rs2130944445
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.465-2A>G
NM_001033855.3(DCLRE1C):c.465-8C>A rs1218480223
NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr) rs1839624547
NM_001033855.3(DCLRE1C):c.477C>T (p.Ile159=) rs2130944259
NM_001033855.3(DCLRE1C):c.480A>G (p.Gln160=) rs747620492
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs) rs1839622622
NM_001033855.3(DCLRE1C):c.483T>C (p.Ser161=)
NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.489T>C (p.Tyr163=)
NM_001033855.3(DCLRE1C):c.490T>C (p.Leu164=) rs1279014555
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.495T>C (p.Asp165=)
NM_001033855.3(DCLRE1C):c.499A>G (p.Thr167Ala) rs2130943678
NM_001033855.3(DCLRE1C):c.501G>C (p.Thr167=) rs750407775
NM_001033855.3(DCLRE1C):c.504C>T (p.Phe168=) rs61749165
NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)
NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly) rs1842831150
NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter) rs2130943393
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
NM_001033855.3(DCLRE1C):c.525A>G (p.Gln175=)
NM_001033855.3(DCLRE1C):c.528T>C (p.Ile176=)
NM_001033855.3(DCLRE1C):c.537+12T>A
NM_001033855.3(DCLRE1C):c.537+16G>A
NM_001033855.3(DCLRE1C):c.537+17G>T
NM_001033855.3(DCLRE1C):c.537+1G>T
NM_001033855.3(DCLRE1C):c.537+20C>T rs199843069
NM_001033855.3(DCLRE1C):c.537+7C>G rs1421714770
NM_001033855.3(DCLRE1C):c.538-19T>G
NM_001033855.3(DCLRE1C):c.538-1G>A
NM_001033855.3(DCLRE1C):c.538-1G>C
NM_001033855.3(DCLRE1C):c.538-6G>C rs1322651521
NM_001033855.3(DCLRE1C):c.538-7T>C rs1279224531
NM_001033855.3(DCLRE1C):c.538-9C>G
NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val) rs1839576830
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His) rs1842830903
NM_001033855.3(DCLRE1C):c.543G>A (p.Glu181=)
NM_001033855.3(DCLRE1C):c.54C>T (p.Arg18=) rs536637310
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
NM_001033855.3(DCLRE1C):c.567G>C (p.Leu189=)
NM_001033855.3(DCLRE1C):c.570C>G (p.Val190=)
NM_001033855.3(DCLRE1C):c.570C>T (p.Val190=) rs758540828
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)
NM_001033855.3(DCLRE1C):c.57C>T (p.Phe19=) rs1457686297
NM_001033855.3(DCLRE1C):c.588G>C (p.Arg196=) rs2130939090
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.594G>C (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.600T>C (p.His200=) rs370483890
NM_001033855.3(DCLRE1C):c.60T>C (p.Asp20=)
NM_001033855.3(DCLRE1C):c.615C>T (p.Asn205=) rs914039818
NM_001033855.3(DCLRE1C):c.624G>T (p.Ala208=) rs770874430
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs) rs1839558393
NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs) rs2130938370
NM_001033855.3(DCLRE1C):c.630T>C (p.Tyr210=) rs1839557963
NM_001033855.3(DCLRE1C):c.633C>A (p.Gly211=)
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682
NM_001033855.3(DCLRE1C):c.636T>C (p.Tyr212=)
NM_001033855.3(DCLRE1C):c.648C>T (p.Phe216=)
NM_001033855.3(DCLRE1C):c.650C>T (p.Thr217Ile)
NM_001033855.3(DCLRE1C):c.651C>T (p.Thr217=) rs1197869661
NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
NM_001033855.3(DCLRE1C):c.671G>A (p.Gly224Glu)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+10C>T
NM_001033855.3(DCLRE1C):c.678+12G>C
NM_001033855.3(DCLRE1C):c.678+17T>C
NM_001033855.3(DCLRE1C):c.678+18T>C
NM_001033855.3(DCLRE1C):c.678+18T>G rs775176227
NM_001033855.3(DCLRE1C):c.678+19C>A
NM_001033855.3(DCLRE1C):c.678+19C>G
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.678+7T>C
NM_001033855.3(DCLRE1C):c.679-10T>C
NM_001033855.3(DCLRE1C):c.679-12T>C
NM_001033855.3(DCLRE1C):c.679-14A>G
NM_001033855.3(DCLRE1C):c.679-14A>T
NM_001033855.3(DCLRE1C):c.679-17T>C
NM_001033855.3(DCLRE1C):c.679-1G>A
NM_001033855.3(DCLRE1C):c.679-1G>T rs2130918080
NM_001033855.3(DCLRE1C):c.679-20G>C
NM_001033855.3(DCLRE1C):c.679-4T>C
NM_001033855.3(DCLRE1C):c.679-7G>A rs774274135
NM_001033855.3(DCLRE1C):c.684T>C (p.His228=)
NM_001033855.3(DCLRE1C):c.690T>C (p.Asn230=) rs2130917882
NM_001033855.3(DCLRE1C):c.693G>A (p.Lys231=)
NM_001033855.3(DCLRE1C):c.699C>A (p.Asp233Glu) rs1163772028
NM_001033855.3(DCLRE1C):c.706A>C (p.Arg236=)
NM_001033855.3(DCLRE1C):c.70C>T (p.Leu24=)
NM_001033855.3(DCLRE1C):c.712A>G (p.Met238Val) rs757591183
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.717T>C (p.Pro239=)
NM_001033855.3(DCLRE1C):c.723C>T (p.Ile241=) rs768379953
NM_001033855.3(DCLRE1C):c.726T>G (p.Leu242=)
NM_001033855.3(DCLRE1C):c.72G>A (p.Leu24=) rs760707626
NM_001033855.3(DCLRE1C):c.730C>T (p.His244Tyr)
NM_001033855.3(DCLRE1C):c.735C>T (p.Leu245=) rs1839266310
NM_001033855.3(DCLRE1C):c.739A>G (p.Thr247Ala)
NM_001033855.3(DCLRE1C):c.741A>C (p.Thr247=)
NM_001033855.3(DCLRE1C):c.746G>T (p.Arg249Leu)
NM_001033855.3(DCLRE1C):c.752C>G (p.Thr251Ser)
NM_001033855.3(DCLRE1C):c.753T>A (p.Thr251=)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.759C>A (p.Ile253=)
NM_001033855.3(DCLRE1C):c.765A>G (p.Ala255=)
NM_001033855.3(DCLRE1C):c.765A>T (p.Ala255=) rs1262815563
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr) rs1839258333
NM_001033855.3(DCLRE1C):c.768C>T (p.Cys256=) rs1839257941
NM_001033855.3(DCLRE1C):c.769C>T (p.Arg257Trp)
NM_001033855.3(DCLRE1C):c.774T>A (p.His258Gln) rs2130916220
NM_001033855.3(DCLRE1C):c.774T>C (p.His258=)
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg) rs1839255605
NM_001033855.3(DCLRE1C):c.780+13G>C
NM_001033855.3(DCLRE1C):c.780+16_780+30del
NM_001033855.3(DCLRE1C):c.780+1G>C rs1839255008
NM_001033855.3(DCLRE1C):c.780+1del rs786205074
NM_001033855.3(DCLRE1C):c.780+20C>T
NM_001033855.3(DCLRE1C):c.780+6T>C
NM_001033855.3(DCLRE1C):c.780+6T>G rs745917460
NM_001033855.3(DCLRE1C):c.780+7G>C rs373071122
NM_001033855.3(DCLRE1C):c.781-10T>C rs2130853443
NM_001033855.3(DCLRE1C):c.781-11_781-7del rs2130853345
NM_001033855.3(DCLRE1C):c.781-18G>C
NM_001033855.3(DCLRE1C):c.781-1G>A
NM_001033855.3(DCLRE1C):c.781-20A>G
NM_001033855.3(DCLRE1C):c.781-4T>A
NM_001033855.3(DCLRE1C):c.781-7T>C
NM_001033855.3(DCLRE1C):c.781-8T>A rs2130853374
NM_001033855.3(DCLRE1C):c.781-9C>G
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
NM_001033855.3(DCLRE1C):c.792T>C (p.Tyr264=)
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter) rs2130853055
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn) rs1838331843
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)
NM_001033855.3(DCLRE1C):c.828C>T (p.Ser276=)
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.835A>G (p.Arg279Gly)
NM_001033855.3(DCLRE1C):c.840T>A (p.Ile280=)
NM_001033855.3(DCLRE1C):c.846C>A (p.Leu282=)
NM_001033855.3(DCLRE1C):c.846C>T (p.Leu282=) rs1279137505
NM_001033855.3(DCLRE1C):c.84C>A (p.Ala28=) rs772007901
NM_001033855.3(DCLRE1C):c.850A>G (p.Ile284Val)
NM_001033855.3(DCLRE1C):c.867A>G (p.Pro289=)
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) rs1589019320
NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter)
NM_001033855.3(DCLRE1C):c.889A>C (p.Arg297=) rs2130851921
NM_001033855.3(DCLRE1C):c.891G>A (p.Arg297=)
NM_001033855.3(DCLRE1C):c.897A>G (p.Arg299=) rs2130851754
NM_001033855.3(DCLRE1C):c.901A>C (p.Thr301Pro)
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669
NM_001033855.3(DCLRE1C):c.906T>C (p.Asn302=) rs2130851538
NM_001033855.3(DCLRE1C):c.909A>G (p.Val303=)
NM_001033855.3(DCLRE1C):c.917+10C>A
NM_001033855.3(DCLRE1C):c.917+12A>G
NM_001033855.3(DCLRE1C):c.917+15T>C
NM_001033855.3(DCLRE1C):c.917+15T>G
NM_001033855.3(DCLRE1C):c.917+17A>G
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.917+20G>T
NM_001033855.3(DCLRE1C):c.917+4AG[2]
NM_001033855.3(DCLRE1C):c.917+9G>A
NM_001033855.3(DCLRE1C):c.918-11C>T rs1838091057
NM_001033855.3(DCLRE1C):c.918-14T>C
NM_001033855.3(DCLRE1C):c.918-14del rs1333161578
NM_001033855.3(DCLRE1C):c.918-18_918-17del
NM_001033855.3(DCLRE1C):c.918-3T>C rs770226530
NM_001033855.3(DCLRE1C):c.918-6C>G
NM_001033855.3(DCLRE1C):c.918-6del rs1838090563
NM_001033855.3(DCLRE1C):c.918-8C>T
NM_001033855.3(DCLRE1C):c.91C>T (p.Leu31=)
NM_001033855.3(DCLRE1C):c.923G>A (p.Gly308Glu) rs746582322
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln) rs1838087325
NM_001033855.3(DCLRE1C):c.928_929del (p.Ser310fs) rs1564414831
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)
NM_001033855.3(DCLRE1C):c.936C>T (p.Tyr312=) rs1268452853
NM_001033855.3(DCLRE1C):c.939_972+715del
NM_001033855.3(DCLRE1C):c.940G>T (p.Ala314Ser)
NM_001033855.3(DCLRE1C):c.951T>C (p.Ser317=) rs1206652720
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.966C>T (p.Tyr322=)
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys) rs780156393
NM_001033855.3(DCLRE1C):c.96C>T (p.Ser32=) rs2131238252
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly) rs1838077116
NM_001033855.3(DCLRE1C):c.972+12C>A
NM_001033855.3(DCLRE1C):c.972+13C>G
NM_001033855.3(DCLRE1C):c.972+14A>C
NM_001033855.3(DCLRE1C):c.972+14A>G rs1055606065
NM_001033855.3(DCLRE1C):c.972+18_972+19insCATATAAT
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001033855.3(DCLRE1C):c.972+9A>G
NM_001033855.3(DCLRE1C):c.973-10C>T
NM_001033855.3(DCLRE1C):c.973-14T>C
NM_001033855.3(DCLRE1C):c.973-18T>C
NM_001033855.3(DCLRE1C):c.973-19G>A
NM_001033855.3(DCLRE1C):c.973-19_973-14del rs2130786455
NM_001033855.3(DCLRE1C):c.973-1G>A
NM_001033855.3(DCLRE1C):c.973-4C>A rs1478233633
NM_001033855.3(DCLRE1C):c.973-7T>A
NM_001033855.3(DCLRE1C):c.973-8T>A rs2130786330
NM_001033855.3(DCLRE1C):c.973-8T>G rs2130786330
NM_001033855.3(DCLRE1C):c.973-9T>C
NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr) rs1842826599
NM_001033855.3(DCLRE1C):c.994C>T (p.Leu332Phe) rs1837374235
NM_001033855.3(DCLRE1C):c.995T>G (p.Leu332Arg)
NM_001033855.3(DCLRE1C):c.996C>G (p.Leu332=) rs2130785879
NM_001033855.3(DCLRE1C):c.99C>G (p.His33Gln)
NM_001033855.3(DCLRE1C):c.9T>G (p.Ser3=)
NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)

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