ClinVar Miner

List of variants studied for Cockayne syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1083
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
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_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_000082.4(ERCC8):c.173+1158A>G rs4647068 0.02409
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
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_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_000082.3(ERCC8):c.-133C>G rs4647037 0.00723
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
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_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
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_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_000124.4(ERCC6):c.*3921A>G rs533984667 0.00364
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000124.4(ERCC6):c.*2602A>G rs41281953 0.00319
NM_000124.4(ERCC6):c.*3280A>G rs146690522 0.00291
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216 0.00234
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_000124.4(ERCC6):c.*2729G>A rs535616736 0.00214
NM_000124.4(ERCC6):c.*118A>C rs4253233 0.00201
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
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_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
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_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_000124.4(ERCC6):c.*3684A>G rs570822434 0.00147
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_000082.4(ERCC8):c.655G>C (p.Ala219Pro) rs150727525 0.00131
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00127
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959 0.00118
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
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_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935 0.00081
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_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
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_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_000124.4(ERCC6):c.*1112G>A rs186262133 0.00056
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 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_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_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175 0.00035
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_000082.4(ERCC8):c.1023A>G (p.Val341=) rs138173863 0.00032
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_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_000124.4(ERCC6):c.*900C>T rs189979670 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_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_000124.4(ERCC6):c.*2237C>T rs192242583 0.00023
NM_000124.4(ERCC6):c.*977A>G rs765959190 0.00022
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518 0.00021
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 0.00018
NM_000082.4(ERCC8):c.173+9A>G rs143356896 0.00017
NM_000124.4(ERCC6):c.2925-8T>A rs147637331 0.00017
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00016
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_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588 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_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 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_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.389-9C>A rs369626998 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 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_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn) rs201642761 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_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) rs758451676 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) rs146740678 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.714G>A (p.Lys238=) rs780166871 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_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) rs180919656 0.00007
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=) rs555317161 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_000082.4(ERCC8):c.173+1119G>C rs1043679457 0.00006
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile) rs192695896 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 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_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) rs200818432 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) rs371487368 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly) rs373174008 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 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_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 0.00005
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn) rs561366032 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 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_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) rs775414253 0.00004
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) rs779096061 0.00004
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=) rs770255135 0.00004
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=) rs757316495 0.00004
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905 0.00004
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu) rs148904556 0.00004
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) rs148003381 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_000082.4(ERCC8):c.399+1G>A rs774047625 0.00003
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile) rs150952570 0.00003
NM_000082.4(ERCC8):c.472T>C (p.Leu158=) rs561001438 0.00003
NM_000082.4(ERCC8):c.650del (p.Arg217fs) rs1561502158 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_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=) rs760367072 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=) rs367595904 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 0.00003
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) rs941012957 0.00003
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) rs764093404 0.00003
NM_005236.3(ERCC4):c.69G>A (p.Val23=) rs201606798 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) rs777183693 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_000082.4(ERCC8):c.*763A>C rs886060717 0.00002
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys) rs373783755 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.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro) rs765252538 0.00002
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089 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_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) rs762885804 0.00002
NM_005236.3(ERCC4):c.1214-19T>C rs747124669 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 0.00002
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) rs779538282 0.00002
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=) rs1420641422 0.00002
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) rs769817145 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=) rs373510515 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.2604C>T (p.His868=) rs370809250 0.00002
NM_005236.3(ERCC4):c.2607C>T (p.His869=) rs769736716 0.00002
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) rs765599689 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_000082.4(ERCC8):c.*116T>C rs1747937844 0.00001
NM_000082.4(ERCC8):c.*602C>G rs1000325333 0.00001
NM_000082.4(ERCC8):c.*724C>G rs886060718 0.00001
NM_000082.4(ERCC8):c.1042-1G>A rs897535441 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) rs750622098 0.00001
NM_000082.4(ERCC8):c.1122+1G>A rs1482664387 0.00001
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) rs1343747301 0.00001
NM_000082.4(ERCC8):c.173+1G>A rs1476095782 0.00001
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser) rs886060722 0.00001
NM_000082.4(ERCC8):c.399+3A>G rs768423381 0.00001
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.551-10G>T rs758296965 0.00001
NM_000082.4(ERCC8):c.590G>A (p.Arg197His) rs763453717 0.00001
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00001
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000082.4(ERCC8):c.843+1G>T rs1305258765 0.00001
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn) rs933739444 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.1526+1G>T rs371739894 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.1997G>A (p.Arg666His) rs769904341 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 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.2143G>T (p.Gly715Ter) rs780538788 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 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.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.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.543+4del rs527236039 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_005236.3(ERCC4):c.1004T>C (p.Met335Thr) rs1458037304 0.00001
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) rs765535723 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NM_005236.3(ERCC4):c.1102+7T>A rs766826151 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=) rs760060914 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) rs752193295 0.00001
NM_005236.3(ERCC4):c.1214-4T>G rs2032257283 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly) rs751095195 0.00001
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn) rs767138486 0.00001
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly) rs752379459 0.00001
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) rs767408205 0.00001
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) rs1473430382 0.00001
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) rs1001540758 0.00001
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) rs368559924 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558 0.00001
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) rs759312308 0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) rs757860762 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.15G>A (p.Gln5=) rs748509102 0.00001
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=) rs954215121 0.00001
NM_005236.3(ERCC4):c.1905-7C>G rs1459073174 0.00001
NM_005236.3(ERCC4):c.1971A>G (p.Val657=) rs993218238 0.00001
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) rs753506602 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=) rs769731155 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541 0.00001
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) rs1477890575 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2421T>C (p.His807=) rs1387272253 0.00001
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) rs1295720869 0.00001
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) rs774635437 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) rs377562755 0.00001
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) rs749822053 0.00001
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284 0.00001
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00001
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=) rs538267970 0.00001
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) rs2032564211 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val) rs753596005 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) rs754622238 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 0.00001
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) rs370864937 0.00001
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) rs765111229 0.00001
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) rs1265753536 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) rs2032156137 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00001
NM_005236.3(ERCC4):c.974-17T>C rs2032183635 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NC_000005.9:g.60164820_60244992del
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
NC_000010.10:g.(?_49383876)_(52383915_?)del
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.13919809A>C rs6498486
NC_000016.9:g.(?_13915808)_(14724045_?)dup
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14031613)_(14031725_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NM_000082.3:c.844_1122del
NM_000082.4(ERCC8):c.*113A>G rs567684336
NM_000082.4(ERCC8):c.*373_*375dup rs886060720
NM_000082.4(ERCC8):c.*377C>G rs1747930621
NM_000082.4(ERCC8):c.*462T>A rs886060719
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000082.4(ERCC8):c.*644G>A rs181536191
NM_000082.4(ERCC8):c.*725T>G rs549186090
NM_000082.4(ERCC8):c.*7T>A rs377745901
NM_000082.4(ERCC8):c.-25G>C rs745927528
NM_000082.4(ERCC8):c.-33C>T rs769026318
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.4(ERCC8):c.1042-1G>C rs897535441
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His) rs368676801
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.4(ERCC8):c.141del (p.Asn47fs) rs786205176
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) rs1749618539
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) rs1749617646
NM_000082.4(ERCC8):c.274dup (p.Arg92fs)
NM_000082.4(ERCC8):c.275+1G>A
NM_000082.4(ERCC8):c.276-2A>G rs1554074597
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) rs1131691783
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) rs143367518
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr) rs367874889
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) rs1749495521
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs)
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.482-2A>G rs1554073420
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp) rs1748970086
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro)
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter)
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.4(ERCC8):c.572_574del (p.Ala191del)
NM_000082.4(ERCC8):c.592del (p.Tyr198fs)
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) rs1748819276
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.4(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.4(ERCC8):c.719-2A>G rs1554073117
NM_000082.4(ERCC8):c.719-2A>T rs1554073117
NM_000082.4(ERCC8):c.77+2T>G rs1554076239
NM_000082.4(ERCC8):c.78-2A>T rs748379243
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) rs281875225
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) rs1748531932
NM_000082.4(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.945C>T (p.Thr315=) rs1173045461
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) rs1749828987
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) rs1748527879
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT]
NM_000124.3(ERCC6):c.1684_1705del
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.-15+3G>T rs1010201937
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.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1040del (p.Gly347fs)
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.1154delinsTACACTTTT (p.Asp385fs)
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.1174G>T (p.Glu392Ter)
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Leu404_Lys405insGln) rs772545860
NM_000124.4(ERCC6):c.1212_1213del (p.Lys405fs)
NM_000124.4(ERCC6):c.1213A>T (p.Lys405Ter)
NM_000124.4(ERCC6):c.1214_1215insCTGGCACTTTCTT (p.Lys405fs)
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1274_1275insGCTTCAG (p.Asp425fs)
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1307_1316del (p.Ala436fs)
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.1342A>T (p.Lys448Ter)
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1467_1468del (p.Ser489fs)
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter) rs1851434105
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
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.1719T>A (p.Cys573Ter)
NM_000124.4(ERCC6):c.1759_1760del (p.Thr587fs)
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter) rs768188064
NM_000124.4(ERCC6):c.1815del (p.His605fs)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter) rs961060711
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.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1867_1869delinsT (p.Thr623fs)
NM_000124.4(ERCC6):c.1905del (p.Ser636fs)
NM_000124.4(ERCC6):c.1914T>A (p.Tyr638Ter)
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter) rs1851015811
NM_000124.4(ERCC6):c.1926T>A (p.Tyr642Ter)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2035C>T (p.Gln679Ter)
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
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.2106del (p.Phe703fs)
NM_000124.4(ERCC6):c.2134_2135del (p.Thr712fs)
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2166del (p.Gln723fs)
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter) rs1850916835
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu) rs201930958
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.2307_2308insATTGT (p.Asp770fs)
NM_000124.4(ERCC6):c.2321_2322del (p.Lys774fs)
NM_000124.4(ERCC6):c.2336del (p.Phe779fs) rs2132544294
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter) rs1850874595
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter) rs1850832795
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter) rs1850832063
NM_000124.4(ERCC6):c.2547_2550del (p.Lys849fs)
NM_000124.4(ERCC6):c.2548del (p.Ile850fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
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.2566C>T (p.Gln856Ter) rs1850831525
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2636del (p.Lys879fs)
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr) rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter) rs1283213117
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter) rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3002_3003delinsA (p.Leu1001fs)
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter) rs1850770605
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter) rs1850769140
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter) rs1850766086
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.3234_3235del (p.Glu1079fs)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3322G>T (p.Gly1108Ter)
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter) rs1850759141
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.3448A>T (p.Lys1150Ter) rs1850757159
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter) rs1286402535
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3489_3490del (p.Gln1164fs)
NM_000124.4(ERCC6):c.3505dup (p.Trp1169fs)
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter) rs1850754584
NM_000124.4(ERCC6):c.3571_3572insATCGT (p.Ala1191fs)
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter) rs1850753467
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3598_3599del (p.Leu1200fs)
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3623_3624insTG (p.Ser1209fs)
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.3637A>T (p.Arg1213Ter) rs2228527
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter) rs1850750513
NM_000124.4(ERCC6):c.3677_3678del (p.Val1226fs)
NM_000124.4(ERCC6):c.3682A>T (p.Lys1228Ter)
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter) rs1850747928
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro) rs1464826740
NM_000124.4(ERCC6):c.3768_3769delinsT (p.Lys1258fs)
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs) rs2132639937
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
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.4146del (p.Leu1384fs)
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer) rs1850531575
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs) rs1272960343
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.454A>T (p.Lys152Ter)
NM_000124.4(ERCC6):c.463G>T (p.Glu155Ter)
NM_000124.4(ERCC6):c.542dup (p.Glu182fs)
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.574C>T (p.Gln192Ter) rs1837393519
NM_000124.4(ERCC6):c.619G>T (p.Glu207Ter)
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.652G>A (p.Glu218Lys) rs2132631324
NM_000124.4(ERCC6):c.775A>T (p.Lys259Ter)
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
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.972dup (p.Glu325fs) rs387906262
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) rs1162384254
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) rs755219554
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) rs145851520
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
NM_005236.3(ERCC4):c.1102+14T>C
NM_005236.3(ERCC4):c.1102+20C>T
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.1213+8A>G
NM_005236.3(ERCC4):c.1214-10C>A
NM_005236.3(ERCC4):c.1214-8A>G
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) rs2141606819
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.132C>T (p.Leu44=) rs1482378244
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
NM_005236.3(ERCC4):c.178C>T (p.Leu60=) rs2141937412
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1811+16T>C
NM_005236.3(ERCC4):c.1811+9T>A
NM_005236.3(ERCC4):c.1811+9T>G rs1235957230
NM_005236.3(ERCC4):c.1812-17T>C rs1399858595
NM_005236.3(ERCC4):c.1812-6A>G
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.183G>A (p.Val61=) rs1215558892
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
NM_005236.3(ERCC4):c.1904+7C>T
NM_005236.3(ERCC4):c.1905-20G>C
NM_005236.3(ERCC4):c.1905-4A>G
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2017+19del
NM_005236.3(ERCC4):c.2018-19A>T
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
NM_005236.3(ERCC4):c.207+13T>A rs759023704
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G
NM_005236.3(ERCC4):c.207+19G>T
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-19C>G
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208-6A>G rs1596617926
NM_005236.3(ERCC4):c.208-7G>T
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) rs1442567731
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) rs2141619950
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) rs2141939855
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=) rs2020959
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.22C>A (p.Arg8=) rs774510191
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) rs765321722
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) rs1303709169
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=) rs111613748
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) rs1031792719
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) rs765253522
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=) rs1417783312
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2574G>A (p.Val858=) rs753126294
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) rs2032559742
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) rs759042927
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=) rs759042927
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+15T>C
NM_005236.3(ERCC4):c.388+20_388+25del
NM_005236.3(ERCC4):c.389-5C>A
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) rs138724289
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.42G>A (p.Pro14=) rs2141936987
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) rs2032078220
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) rs2032078374
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln) rs373789508
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) rs1405781900
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.534G>T (p.Val178=) rs957009045
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) rs113129434
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.585-18A>C
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.591T>C (p.His197=)
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.792+7T>C
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
NM_005236.3(ERCC4):c.793-18A>G
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) rs143479220
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) rs2032156289
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
NM_005236.3(ERCC4):c.973+17C>T
NM_005236.3(ERCC4):c.973+20A>G
NM_005236.3(ERCC4):c.973+7G>A rs1216362714
NM_005236.3(ERCC4):c.974-20_974-16del rs2141949732
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005236.3(ERCC4):c.974-8C>T rs1567245872
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
Single allele

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