ClinVar Miner

List of variants in gene DCLRE1C reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
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.556G>C (p.Val186Leu) rs141448396 0.00063
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695 0.00051
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064 0.00030
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.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.537+13G>A rs372309093 0.00011
NM_001033855.3(DCLRE1C):c.726T>C (p.Leu242=) rs778439805 0.00011
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=) rs149039288 0.00011
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.741A>G (p.Thr247=) rs369844484 0.00007
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.2004A>G (p.Gln668=) rs150063030 0.00006
NM_001033855.3(DCLRE1C):c.678+12G>A rs201504698 0.00006
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 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.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.219G>A (p.Pro73=) rs147784627 0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=) rs191086777 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.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.246+15T>C rs781019003 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.624G>A (p.Ala208=) rs770874430 0.00003
NM_001033855.3(DCLRE1C):c.678+8G>A rs920315432 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.1056C>T (p.Val352=) rs765407675 0.00002
NM_001033855.3(DCLRE1C):c.110-7T>G rs930637788 0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=) rs532892332 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.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.597C>T (p.Tyr199=) rs121908157 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.1014T>C (p.Tyr338=) rs748925672 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.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.162-10T>C rs772500940 0.00001
NM_001033855.3(DCLRE1C):c.162-6T>C rs1337543848 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.1734C>T (p.Tyr578=) rs755018546 0.00001
NM_001033855.3(DCLRE1C):c.1749A>G (p.Lys583=) rs1262216079 0.00001
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=) rs749159797 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.246+10A>G rs374757450 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.306+13T>G rs371265213 0.00001
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=) rs768356794 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.450G>A (p.Leu150=) rs1392587173 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.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.606G>A (p.Val202=) rs781179035 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.781-6T>C rs1243099678 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.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970
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.1035C>T (p.Gly345=) rs2130785485
NM_001033855.3(DCLRE1C):c.1053T>C (p.Val351=) rs758671214
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+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.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.110-12T>C
NM_001033855.3(DCLRE1C):c.110-16G>T
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.1104G>A (p.Lys368=)
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.1134T>C (p.Ala378=) rs2130742136
NM_001033855.3(DCLRE1C):c.1149A>G (p.Arg383=)
NM_001033855.3(DCLRE1C):c.1156+20G>T
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.1170C>T (p.Asp390=)
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.1179T>C (p.Phe393=)
NM_001033855.3(DCLRE1C):c.1182T>C (p.Asp394=) rs2131780112
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.1221C>T (p.Tyr407=) rs1296189593
NM_001033855.3(DCLRE1C):c.1230T>C (p.Thr410=) rs1398018162
NM_001033855.3(DCLRE1C):c.1248T>C (p.Phe416=)
NM_001033855.3(DCLRE1C):c.1285C>T (p.Leu429=) rs752137206
NM_001033855.3(DCLRE1C):c.1287G>A (p.Leu429=) rs115081573
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.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.1341A>C (p.Thr447=) rs775633789
NM_001033855.3(DCLRE1C):c.1362A>G (p.Glu454=)
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1404A>G (p.Ser468=)
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.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.1440A>G (p.Gln480=)
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.1473A>G (p.Val491=)
NM_001033855.3(DCLRE1C):c.1500A>C (p.Thr500=) rs2131776179
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.1536G>A (p.Val512=)
NM_001033855.3(DCLRE1C):c.1536G>T (p.Val512=) rs2131775740
NM_001033855.3(DCLRE1C):c.1554A>G (p.Ser518=) rs2131775529
NM_001033855.3(DCLRE1C):c.1557A>G (p.Pro519=) rs2131775488
NM_001033855.3(DCLRE1C):c.1575T>C (p.Ser525=)
NM_001033855.3(DCLRE1C):c.1584A>G (p.Glu528=) rs2131775195
NM_001033855.3(DCLRE1C):c.1590T>C (p.Thr530=)
NM_001033855.3(DCLRE1C):c.1596C>A (p.Ile532=)
NM_001033855.3(DCLRE1C):c.1599C>T (p.Ser533=) rs2131775018
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+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.162-7C>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.1629A>C (p.Ile543=) rs1282092460
NM_001033855.3(DCLRE1C):c.1650C>T (p.Gly550=)
NM_001033855.3(DCLRE1C):c.1662A>G (p.Gln554=) rs886043100
NM_001033855.3(DCLRE1C):c.1668T>C (p.Asp556=)
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.1695A>G (p.Arg565=) rs2131773917
NM_001033855.3(DCLRE1C):c.1704G>A (p.Gly568=) rs2131773826
NM_001033855.3(DCLRE1C):c.1704G>C (p.Gly568=)
NM_001033855.3(DCLRE1C):c.1713T>C (p.Thr571=) rs2131773687
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.1752G>A (p.Glu584=)
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.1770C>G (p.Leu590=) rs2131772690
NM_001033855.3(DCLRE1C):c.1782T>C (p.Asn594=) rs775980446
NM_001033855.3(DCLRE1C):c.1788T>C (p.Ile596=) rs2131772475
NM_001033855.3(DCLRE1C):c.1806C>T (p.Tyr602=)
NM_001033855.3(DCLRE1C):c.1809T>G (p.Ser603=) rs1834725809
NM_001033855.3(DCLRE1C):c.1824A>G (p.Arg608=)
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.1848T>C (p.Pro616=) rs1338665936
NM_001033855.3(DCLRE1C):c.1869T>C (p.Thr623=)
NM_001033855.3(DCLRE1C):c.1878T>C (p.Ser626=)
NM_001033855.3(DCLRE1C):c.1893C>A (p.Pro631=) rs41300676
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.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1906T>C (p.Leu636=) rs933422037
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.1971A>G (p.Pro657=) rs2131769255
NM_001033855.3(DCLRE1C):c.1977T>A (p.Ala659=) rs2131769178
NM_001033855.3(DCLRE1C):c.1980G>A (p.Glu660=) rs747160002
NM_001033855.3(DCLRE1C):c.1992A>G (p.Arg664=) rs1834685227
NM_001033855.3(DCLRE1C):c.1995G>A (p.Glu665=)
NM_001033855.3(DCLRE1C):c.1998T>C (p.His666=)
NM_001033855.3(DCLRE1C):c.2007T>C (p.Tyr669=)
NM_001033855.3(DCLRE1C):c.2010A>G (p.Leu670=)
NM_001033855.3(DCLRE1C):c.2019G>A (p.Lys673=)
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.2040A>T (p.Ile680=) rs2131767938
NM_001033855.3(DCLRE1C):c.2046C>T (p.Val682=) rs1455233498
NM_001033855.3(DCLRE1C):c.204G>A (p.Leu68=)
NM_001033855.3(DCLRE1C):c.2061C>T (p.Cys687=)
NM_001033855.3(DCLRE1C):c.207G>A (p.Leu69=) rs2131108120
NM_001033855.3(DCLRE1C):c.208T>C (p.Leu70=)
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.246+15T>G rs781019003
NM_001033855.3(DCLRE1C):c.246+16T>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.247-4A>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.252T>C (p.Ser84=) rs2131027424
NM_001033855.3(DCLRE1C):c.252T>G (p.Ser84=) rs2131027424
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.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+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.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.330C>G (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.331T>C (p.Leu111=) rs377443609
NM_001033855.3(DCLRE1C):c.345C>T (p.His115=) rs2130973480
NM_001033855.3(DCLRE1C):c.348T>C (p.Cys116=) rs2130973416
NM_001033855.3(DCLRE1C):c.357A>C (p.Ser119=)
NM_001033855.3(DCLRE1C):c.357A>T (p.Ser119=) rs757569484
NM_001033855.3(DCLRE1C):c.362+14T>A
NM_001033855.3(DCLRE1C):c.362+8G>C rs1564446480
NM_001033855.3(DCLRE1C):c.363-15A>G
NM_001033855.3(DCLRE1C):c.363-23_363-15dup
NM_001033855.3(DCLRE1C):c.363-4T>C
NM_001033855.3(DCLRE1C):c.363-5T>C
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.414A>G (p.Arg138=)
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.453C>T (p.His151=)
NM_001033855.3(DCLRE1C):c.45C>A (p.Ser15=) rs764872812
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+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.465-17A>G
NM_001033855.3(DCLRE1C):c.465-8C>A rs1218480223
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.483T>C (p.Ser161=)
NM_001033855.3(DCLRE1C):c.489T>C (p.Tyr163=)
NM_001033855.3(DCLRE1C):c.490T>C (p.Leu164=) rs1279014555
NM_001033855.3(DCLRE1C):c.495T>C (p.Asp165=)
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.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+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.538-6G>C rs1322651521
NM_001033855.3(DCLRE1C):c.538-7T>C rs1279224531
NM_001033855.3(DCLRE1C):c.538-9C>G
NM_001033855.3(DCLRE1C):c.543G>A (p.Glu181=)
NM_001033855.3(DCLRE1C):c.54C>T (p.Arg18=) rs536637310
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.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.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.630T>C (p.Tyr210=) rs1839557963
NM_001033855.3(DCLRE1C):c.633C>A (p.Gly211=)
NM_001033855.3(DCLRE1C):c.636T>C (p.Tyr212=)
NM_001033855.3(DCLRE1C):c.648C>T (p.Phe216=)
NM_001033855.3(DCLRE1C):c.651C>T (p.Thr217=) rs1197869661
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+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.679-20G>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.706A>C (p.Arg236=)
NM_001033855.3(DCLRE1C):c.70C>T (p.Leu24=)
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.735C>T (p.Leu245=) rs1839266310
NM_001033855.3(DCLRE1C):c.741A>C (p.Thr247=)
NM_001033855.3(DCLRE1C):c.753T>A (p.Thr251=)
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.768C>T (p.Cys256=) rs1839257941
NM_001033855.3(DCLRE1C):c.774T>C (p.His258=)
NM_001033855.3(DCLRE1C):c.780+13G>C
NM_001033855.3(DCLRE1C):c.780+16_780+30del
NM_001033855.3(DCLRE1C):c.780+20C>T
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.781-20A>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.792T>C (p.Tyr264=)
NM_001033855.3(DCLRE1C):c.828C>T (p.Ser276=)
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.867A>G (p.Pro289=)
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.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+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.918-18_918-17del
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.936C>T (p.Tyr312=) rs1268452853
NM_001033855.3(DCLRE1C):c.951T>C (p.Ser317=) rs1206652720
NM_001033855.3(DCLRE1C):c.966C>T (p.Tyr322=)
NM_001033855.3(DCLRE1C):c.96C>T (p.Ser32=) rs2131238252
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+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.973-4C>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.996C>G (p.Leu332=) rs2130785879
NM_001033855.3(DCLRE1C):c.9T>G (p.Ser3=)

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