ClinVar Miner

List of variants studied for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 582
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.*1327G>A rs117289374 0.01454
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_001983.4(ERCC1):c.843+32G>A rs116640350 0.00729
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973 0.00694
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_000124.4(ERCC6):c.*1981dup rs557832376 0.00515
NM_000124.4(ERCC6):c.*2680A>C rs35471849 0.00511
NM_000124.4(ERCC6):c.*2155T>C rs114183603 0.00503
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_000124.4(ERCC6):c.*2766T>G rs141121035 0.00448
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000124.4(ERCC6):c.*3921A>G rs533984667 0.00364
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870 0.00325
NM_000124.4(ERCC6):c.*2602A>G rs41281953 0.00319
NM_000124.4(ERCC6):c.*3280A>G rs146690522 0.00291
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000123.4(ERCC5):c.2100C>A (p.Leu700=) rs2228959 0.00243
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000124.4(ERCC6):c.*118A>C rs4253233 0.00201
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044 0.00191
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026 0.00191
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046 0.00188
NM_000124.4(ERCC6):c.-22G>A rs4253006 0.00181
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_000124.4(ERCC6):c.*3684A>G rs570822434 0.00147
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_000123.3(ERCC5):c.-241G>C rs4150249 0.00120
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) rs146853061 0.00109
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001 0.00089
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988 0.00083
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935 0.00081
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_000124.4(ERCC6):c.*813C>T rs181327678 0.00077
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043 0.00064
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519 0.00063
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) rs34291397 0.00059
NM_000124.4(ERCC6):c.*1112G>A rs186262133 0.00056
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_000124.4(ERCC6):c.*1933A>G rs748783305 0.00054
NM_000124.4(ERCC6):c.*4019A>G rs569564278 0.00052
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000124.4(ERCC6):c.-15+11G>A rs766986601 0.00050
NM_000124.4(ERCC6):c.*1279T>A rs189942338 0.00048
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val) rs142631483 0.00045
NM_000124.4(ERCC6):c.*1314G>A rs542053472 0.00043
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070 0.00042
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) rs2307491 0.00037
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175 0.00035
NM_000124.4(ERCC6):c.*2460T>C rs566027784 0.00032
NM_000124.4(ERCC6):c.*1780T>C rs188228522 0.00031
NM_000124.4(ERCC6):c.*3720T>C rs183472492 0.00031
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602 0.00031
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) rs200615101 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_000124.4(ERCC6):c.*900C>T rs189979670 0.00026
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933 0.00025
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_000123.4(ERCC5):c.542A>G (p.His181Arg) rs4150295 0.00024
NM_000124.4(ERCC6):c.*2237C>T rs192242583 0.00023
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000124.4(ERCC6):c.*977A>G rs765959190 0.00022
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_000123.4(ERCC5):c.2190T>C (p.Asp730=) rs148103512 0.00020
NM_000123.4(ERCC5):c.442C>T (p.Pro148Ser) rs778333931 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_000123.4(ERCC5):c.-156C>A rs886049939 0.00017
NM_000123.4(ERCC5):c.1195G>A (p.Glu399Lys) rs4150315 0.00017
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_000124.4(ERCC6):c.*2031A>G rs1050975183 0.00015
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 0.00015
NM_000124.4(ERCC6):c.*4208A>G rs182395696 0.00014
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys) rs145622432 0.00014
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) rs200504271 0.00013
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_000124.4(ERCC6):c.*2540G>T rs535495750 0.00012
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu) rs114852424 0.00012
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=) rs4150317 0.00011
NM_000123.4(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292 0.00011
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542 0.00010
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) rs765554006 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) rs146256515 0.00009
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=) rs372662617 0.00008
NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) rs761650522 0.00008
NM_000124.4(ERCC6):c.*922C>T rs562204481 0.00007
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473 0.00007
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562 0.00007
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met) rs149382642 0.00007
NM_000123.4(ERCC5):c.*88C>T rs1424795599 0.00006
NM_000123.4(ERCC5):c.-126A>G rs754840043 0.00006
NM_000123.4(ERCC5):c.3412G>A (p.Val1138Met) rs140930348 0.00006
NM_000123.4(ERCC5):c.89-10A>G rs202103819 0.00006
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322 0.00006
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) rs773823921 0.00005
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln) rs867329357 0.00005
NM_000123.4(ERCC5):c.529-3C>T rs372122917 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2829+11A>T rs777251839 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000123.4(ERCC5):c.-146A>G rs552781571 0.00004
NM_000123.4(ERCC5):c.1954+5G>A rs112412083 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) rs368550097 0.00004
NM_000124.4(ERCC6):c.-107A>G rs886047042 0.00004
NM_000124.4(ERCC6):c.-65G>A rs1318032118 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729 0.00004
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886 0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972 0.00004
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg) rs114403790 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg) rs953446261 0.00003
NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350 0.00003
NM_000123.4(ERCC5):c.212G>A (p.Arg71His) rs587778293 0.00003
NM_000123.4(ERCC5):c.2268G>C (p.Gln756His) rs777336956 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000123.4(ERCC5):c.844G>A (p.Val282Ile) rs747651424 0.00003
NM_000123.4(ERCC5):c.876A>G (p.Ile292Met) rs193097418 0.00003
NM_000124.4(ERCC6):c.*1383T>G rs886047023 0.00003
NM_000124.4(ERCC6):c.*3356C>T rs563034452 0.00003
NM_000124.4(ERCC6):c.*388C>A rs886047029 0.00003
NM_000124.4(ERCC6):c.*38A>G rs756639495 0.00003
NM_000124.4(ERCC6):c.*3925A>G rs981190765 0.00003
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp) rs374490261 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348 0.00003
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_000124.4(ERCC6):c.2287-3T>C rs780652533 0.00003
NM_000124.4(ERCC6):c.2287-5C>T rs772880581 0.00003
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr) rs747941045 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_001277058.2(ERCC6):c.1696C>T (p.Gln566Ter) rs370101518 0.00003
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp) rs137877463 0.00002
NM_000123.4(ERCC5):c.1955-6G>A rs371527587 0.00002
NM_000123.4(ERCC5):c.2320-15C>T rs886049940 0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) rs770177920 0.00002
NM_000124.4(ERCC6):c.-32G>A rs1215179845 0.00002
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821 0.00002
NM_000124.4(ERCC6):c.1916A>G (p.Asp639Gly) rs367546930 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro) rs765252538 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000124.4(ERCC6):c.422+1G>A rs1198472093 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000400.4(ERCC2):c.1354C>T (p.Gln452Ter) rs199643821 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.1758+1G>A rs760834687 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000123.3(ERCC5):c.-380C>T rs1331645993 0.00001
NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) rs764744058 0.00001
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile) rs1294793811 0.00001
NM_000123.4(ERCC5):c.127C>T (p.Arg43Trp) rs750156480 0.00001
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=) rs575691378 0.00001
NM_000123.4(ERCC5):c.2208G>C (p.Leu736Phe) rs201744259 0.00001
NM_000123.4(ERCC5):c.2295C>T (p.Thr765=) rs201206202 0.00001
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr) rs751772171 0.00001
NM_000123.4(ERCC5):c.2437A>G (p.Ile813Val) rs768296301 0.00001
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00001
NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) rs886049942 0.00001
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=) rs577633416 0.00001
NM_000123.4(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699 0.00001
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His) rs188710607 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.673-2A>G rs756420203 0.00001
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val) rs371937705 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000124.4(ERCC6):c.*2662T>C rs924324836 0.00001
NM_000124.4(ERCC6):c.*3217T>G rs758928784 0.00001
NM_000124.4(ERCC6):c.*3704C>T rs1393093094 0.00001
NM_000124.4(ERCC6):c.*681G>A rs547014227 0.00001
NM_000124.4(ERCC6):c.-100A>G rs886047041 0.00001
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser) rs140135643 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.1686-12G>A rs774930802 0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344 0.00001
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836 0.00001
NM_000124.4(ERCC6):c.1993-12T>C rs751115103 0.00001
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374 0.00001
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000124.4(ERCC6):c.2598+7G>A rs769421755 0.00001
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.2840G>A (p.Arg947Gln) rs1332662295 0.00001
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=) rs563142074 0.00001
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168 0.00001
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys) rs367552064 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.3962C>G (p.Ser1321Cys) rs746330518 0.00001
NM_000124.4(ERCC6):c.423-9A>C rs775274710 0.00001
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039 0.00001
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316 0.00001
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu) rs1218964618 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1489C>T (p.Arg497Cys) rs199738290 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His) rs762141272 0.00001
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) rs752510317 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter) rs867518898 0.00001
NM_000123.3:c.89-?_528+?del
NM_000123.4(ERCC5):c.-192A>C rs916384868
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) rs142927249
NM_000123.4(ERCC5):c.1068del (p.Ser357fs) rs1325131028
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.4(ERCC5):c.1339G>A (p.Ala447Thr) rs2140527689
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg) rs1882697320
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter) rs1882701423
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.2182T>A (p.Trp728Arg)
NM_000123.4(ERCC5):c.2189A>G (p.Asp730Gly) rs766211518
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe) rs1882817610
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=) rs747408676
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000123.4(ERCC5):c.2427del (p.Asp809fs) rs777455688
NM_000123.4(ERCC5):c.246A>C (p.Leu82=) rs757602836
NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del) rs1882858341
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=) rs1847952748
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs) rs2140538834
NM_000123.4(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.2965-14T>A rs886049941
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.323del (p.Lys108fs)
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) rs1266019512
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg) rs750395826
NM_000123.4(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.380+3A>T
NM_000123.4(ERCC5):c.381-2A>G
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val) rs1882405209
NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys) rs762256976
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.4(ERCC5):c.664A>G (p.Met222Val) rs1391956862
NM_000123.4(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.4(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000124.4(ERCC6):c.*1805G>T rs1850494237
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.*246T>C rs1850520931
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.*2973C>G rs951313840
NM_000124.4(ERCC6):c.*3366G>A rs1850469256
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*4090G>A rs117555054
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*589A>G rs1850515497
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln) rs772545860
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1684A>T (p.Arg562Trp) rs777252763
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Phe691_Ile692insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
NM_000124.4(ERCC6):c.2218_2221del (p.Pro740fs)
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val) rs1590413260
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.22del (p.His8fs)
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2523G>T (p.Met841Ile)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.289G>A (p.Val97Met) rs1837497957
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro) rs121917905
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs) rs1850765501
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Glu1145_Ser1146insArg) rs1435512927
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs) rs758341467
NM_000124.4(ERCC6):c.3762G>T (p.Lys1254Asn) rs1850747769
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3778+1G>A rs1554875114
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=) rs1379322521
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp) rs370285377
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.423-7T>C rs1837452924
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys) rs1360922012
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1024del (p.Trp342fs)
NM_000400.4(ERCC2):c.1230C>G (p.Tyr410Ter)
NM_000400.4(ERCC2):c.1293dup (p.Ile432fs)
NM_000400.4(ERCC2):c.1299_1303del (p.His434fs)
NM_000400.4(ERCC2):c.1307+1G>A
NM_000400.4(ERCC2):c.1347_1377+7del
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.136dup (p.Thr46fs)
NM_000400.4(ERCC2):c.1377+1dup
NM_000400.4(ERCC2):c.1479+2T>C
NM_000400.4(ERCC2):c.1480-1G>C
NM_000400.4(ERCC2):c.1543+2_1543+33inv
NM_000400.4(ERCC2):c.1544-1G>T
NM_000400.4(ERCC2):c.1607_1613dup (p.Phe539fs)
NM_000400.4(ERCC2):c.1655G>A (p.Trp552Ter)
NM_000400.4(ERCC2):c.1663C>T (p.Gln555Ter)
NM_000400.4(ERCC2):c.1684C>T (p.Gln562Ter) rs2123229548
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1732_1741del (p.Ser578fs)
NM_000400.4(ERCC2):c.1752C>G (p.Tyr584Ter)
NM_000400.4(ERCC2):c.1759-2A>C
NM_000400.4(ERCC2):c.1793_1796dup (p.Ala600fs)
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1805dup (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809del (p.Lys603fs)
NM_000400.4(ERCC2):c.1808_1809dup (p.Val604fs)
NM_000400.4(ERCC2):c.1832-1G>T
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.1865del (p.Gly622fs)
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.1934_1958dup (p.Thr653_Phe654insAspSerTer)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln) rs1971845337
NM_000400.4(ERCC2):c.2005_2006del (p.Arg669fs)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_000400.4(ERCC2):c.2023G>C (p.Gly675Arg)
NM_000400.4(ERCC2):c.2046+1G>T rs774768228
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2047-2A>C
NM_000400.4(ERCC2):c.2087G>A (p.Trp696Ter)
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter) rs1555775416
NM_000400.4(ERCC2):c.2145_2152del (p.Ala717fs)
NM_000400.4(ERCC2):c.2173G>A (p.Ala725Thr)
NM_000400.4(ERCC2):c.2190+1G>T
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.2191-2A>G
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.28_58dup (p.Glu20fs)
NM_000400.4(ERCC2):c.326_344del (p.Leu109fs)
NM_000400.4(ERCC2):c.361-1G>A
NM_000400.4(ERCC2):c.402C>A (p.Cys134Ter)
NM_000400.4(ERCC2):c.478-2A>G
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000400.4(ERCC2):c.559C>T (p.Gln187Ter)
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.633C>G (p.Tyr211Ter)
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) rs753696173
NM_000400.4(ERCC2):c.79G>T (p.Glu27Ter)
NM_000400.4(ERCC2):c.815+1G>A
NM_000400.4(ERCC2):c.956dup (p.Pro320fs)
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001983.4(ERCC1):c.231del (p.Thr78fs) rs2123520960
NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028

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