ClinVar Miner

List of variants in gene ERCC4 studied for hereditary photodermatosis

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 725
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_005236.3(ERCC4):c.*484G>T rs3743538 0.36422
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.35986
NM_005236.3(ERCC4):c.*810G>A rs2276465 0.32063
NM_005236.3(ERCC4):c.*2513C>A rs11075223 0.29307
NM_005236.3(ERCC4):c.*3032G>T rs4781562 0.27153
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.*971C>G rs2276466 0.24575
NM_005236.3(ERCC4):c.*726G>C rs2276464 0.24180
NM_005236.3(ERCC4):c.*3195G>A rs4781563 0.23343
NM_005236.3(ERCC4):c.*2577C>A rs56012340 0.23225
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22844
NM_005236.3(ERCC4):c.*2174A>G rs9925509 0.07847
NM_005236.3(ERCC4):c.*3493T>C rs79560972 0.07396
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.*3801C>T rs113403633 0.06008
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_005236.3(ERCC4):c.*1421G>T rs76447723 0.04343
NM_005236.3(ERCC4):c.*3913G>C rs112259692 0.04196
NM_005236.3(ERCC4):c.*11C>T rs9929524 0.02488
NM_005236.3(ERCC4):c.*674G>C rs1651204 0.02273
NM_005236.3(ERCC4):c.*675G>T rs1651203 0.02119
NM_005236.3(ERCC4):c.*3125A>G rs115183774 0.02088
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_005236.3(ERCC4):c.*1880C>T rs112776898 0.01335
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01182
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_005236.3(ERCC4):c.*3537C>T rs113073720 0.01006
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00910
NM_005236.3(ERCC4):c.*1056A>G rs72781468 0.00699
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00653
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00577
NM_005236.3(ERCC4):c.*2539A>G rs115526695 0.00547
NM_005236.3(ERCC4):c.*1472C>T rs112742002 0.00528
NM_005236.3(ERCC4):c.*2816A>T rs146325817 0.00527
NM_005236.3(ERCC4):c.*947T>C rs117293226 0.00520
NM_005236.3(ERCC4):c.*3200A>G rs8056393 0.00516
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00456
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00370
NM_005236.3(ERCC4):c.*3727G>T rs560338292 0.00312
NM_005236.3(ERCC4):c.*3439G>A rs192113185 0.00297
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.*3911C>T rs552082015 0.00285
NM_005236.3(ERCC4):c.*2139A>C rs140019040 0.00284
NM_005236.3(ERCC4):c.*1708G>A rs528435639 0.00281
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.*701A>T rs146955145 0.00232
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00194
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.*2892C>G rs376334296 0.00176
NM_005236.3(ERCC4):c.*1251T>C rs532485638 0.00143
NM_005236.3(ERCC4):c.*3327A>G rs535056033 0.00111
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00106
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.*2588A>G rs188840787 0.00092
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_005236.3(ERCC4):c.*2744T>A rs12325236 0.00065
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_005236.3(ERCC4):c.*1858C>T rs775803860 0.00046
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.*1288G>A rs143188036 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.*2710C>T rs1009636631 0.00035
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.*1478T>C rs754423213 0.00031
NM_005236.3(ERCC4):c.*2759C>T rs776910274 0.00030
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00030
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.*1353G>A rs77401662 0.00026
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00025
NM_005236.3(ERCC4):c.*2255G>A rs886051675 0.00024
NM_005236.3(ERCC4):c.*384A>G rs886051668 0.00024
NM_005236.3(ERCC4):c.*3818G>A rs886051683 0.00023
NM_005236.3(ERCC4):c.*3130T>C rs189232031 0.00022
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00022
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00020
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 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.1763T>C (p.Val588Ala) rs371392134 0.00017
NM_005236.3(ERCC4):c.*1774C>T rs772694607 0.00015
NM_005236.3(ERCC4):c.*1981C>T rs1047686990 0.00015
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
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.2427G>A (p.Thr809=) rs2020960 0.00013
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00013
NM_005236.3(ERCC4):c.*1256G>C rs373479879 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.*2415A>G rs549968233 0.00011
NM_005236.3(ERCC4):c.*2463C>G rs895959283 0.00011
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.471A>G (p.Lys157=) rs3136092 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005236.3(ERCC4):c.*539G>A rs565318315 0.00010
NM_005236.3(ERCC4):c.*745A>G rs541739848 0.00010
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644 0.00010
NM_005236.3(ERCC4):c.*1676G>A rs960247338 0.00009
NM_005236.3(ERCC4):c.*218A>G rs879319131 0.00009
NM_005236.3(ERCC4):c.*2712C>T rs552190642 0.00009
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 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.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 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_005236.3(ERCC4):c.*411C>T rs141279442 0.00008
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00008
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 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_005236.3(ERCC4):c.*3319G>A rs567578149 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.1860C>G (p.Leu620=) rs758451676 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.260G>A (p.Arg87His) rs371487368 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly) rs766951888 0.00007
NM_005236.3(ERCC4):c.327G>A (p.Ala109=) rs377085353 0.00007
NM_005236.3(ERCC4):c.*248G>A rs541600279 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.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005236.3(ERCC4):c.*106A>G rs983200560 0.00005
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1102+20C>T rs555322451 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00005
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00005
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 0.00005
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00005
NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe) rs1261870926 0.00005
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005236.3(ERCC4):c.*558A>C rs376791839 0.00004
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 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.1917C>A (p.Ser639Arg) rs377213481 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.2392C>G (p.Leu798Val) rs369736388 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.799C>T (p.Arg267Cys) rs373570729 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_005236.3(ERCC4):c.*1463C>T rs886051671 0.00003
NM_005236.3(ERCC4):c.*192T>C rs536552167 0.00003
NM_005236.3(ERCC4):c.*2423A>G rs886051676 0.00003
NM_005236.3(ERCC4):c.*2825A>T rs2032623031 0.00003
NM_005236.3(ERCC4):c.*3044A>C rs886051679 0.00003
NM_005236.3(ERCC4):c.*3282C>G rs2032631201 0.00003
NM_005236.3(ERCC4):c.*3921A>C rs773246781 0.00003
NM_005236.3(ERCC4):c.1214-8A>G rs572244227 0.00003
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala) rs1387660737 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.1762G>A (p.Val588Ile) rs777006157 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=) rs1392371174 0.00003
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln) rs777853585 0.00003
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=) rs556423345 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 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.256C>T (p.Arg86Cys) rs769932063 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.314G>C (p.Gly105Ala) rs763208431 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.652A>G (p.Met218Val) rs145138851 0.00003
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu) rs140299888 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr) rs917066081 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_005236.3(ERCC4):c.*3443G>A rs1023910862 0.00002
NM_005236.3(ERCC4):c.*3542T>C rs886051681 0.00002
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val) rs758884625 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys) rs142332295 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 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.1689C>G (p.Pro563=) rs553999029 0.00002
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00002
NM_005236.3(ERCC4):c.207+13T>A rs759023704 0.00002
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 0.00002
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val) rs746694351 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys) rs972892828 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.2633C>T (p.Ala878Val) rs948636865 0.00002
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu) rs754131812 0.00002
NM_005236.3(ERCC4):c.355T>C (p.Leu119=) rs565715127 0.00002
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) rs746296279 0.00002
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val) rs1022507611 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.711A>G (p.Leu237=) rs1322245038 0.00002
NM_005236.3(ERCC4):c.871T>C (p.Leu291=) rs1334727752 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00002
NM_005236.3(ERCC4):c.*150T>C rs886051667 0.00001
NM_005236.3(ERCC4):c.*1635G>A rs1466776661 0.00001
NM_005236.3(ERCC4):c.*1897A>C rs886051672 0.00001
NM_005236.3(ERCC4):c.*2180G>A rs886051673 0.00001
NM_005236.3(ERCC4):c.*2240A>G rs886051674 0.00001
NM_005236.3(ERCC4):c.*2849G>A rs567543133 0.00001
NM_005236.3(ERCC4):c.*3071T>C rs886051680 0.00001
NM_005236.3(ERCC4):c.*3965G>A rs1177954651 0.00001
NM_005236.3(ERCC4):c.*630C>T rs1408482875 0.00001
NM_005236.3(ERCC4):c.*859A>C rs886051669 0.00001
NM_005236.3(ERCC4):c.*875A>G rs886051670 0.00001
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=) rs1162384254 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.1214-19T>C rs747124669 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.1251T>A (p.Cys417Ter) rs762738968 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.1376C>A (p.Ser459Ter) rs201179693 0.00001
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser) rs1673227802 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 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.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp) rs886051665 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.1732G>A (p.Val578Met) rs202186213 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys) rs777448181 0.00001
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu) rs1250391663 0.00001
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe) rs189463122 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala) rs771383745 0.00001
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys) rs373565480 0.00001
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys) rs750205235 0.00001
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=) rs954215121 0.00001
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val) rs533626393 0.00001
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met) rs749634352 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.1997C>T (p.Ser666Phe) rs2032484990 0.00001
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala) rs2543191362 0.00001
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr) rs2031946664 0.00001
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn) rs200317919 0.00001
NM_005236.3(ERCC4):c.2017+1G>A rs587777943 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu) rs755577606 0.00001
NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys) rs149364215 0.00001
NM_005236.3(ERCC4):c.207+19G>T rs2031947945 0.00001
NM_005236.3(ERCC4):c.208-3T>G rs773956647 0.00001
NM_005236.3(ERCC4):c.208-6A>G rs1596617926 0.00001
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00001
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys) rs759518166 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp) rs1180030515 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.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=) rs1293899276 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.2265C>T (p.Pro755=) rs555317161 0.00001
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met) rs778971103 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg) rs1204583520 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.2436G>A (p.Leu812=) rs373510515 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.2535T>C (p.Asn845=) rs750391635 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.2594C>T (p.Ser865Phe) rs779099430 0.00001
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804 0.00001
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs) rs1230954687 0.00001
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=) rs538267970 0.00001
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met) rs772294893 0.00001
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=) rs1457796184 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.2749T>C (p.Ter917Arg) rs780318166 0.00001
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met) rs549297996 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.336G>A (p.Arg112=) rs1246174701 0.00001
NM_005236.3(ERCC4):c.363T>C (p.Asp121=) rs555020322 0.00001
NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) rs144666685 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.388+15T>C rs1038044252 0.00001
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=) rs2032075826 0.00001
NM_005236.3(ERCC4):c.409C>G (p.His137Asp) rs2032076033 0.00001
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys) rs760865964 0.00001
NM_005236.3(ERCC4):c.426T>A (p.Ser142=) rs147455220 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) rs765599689 0.00001
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) rs113129434 0.00001
NM_005236.3(ERCC4):c.585-18A>C rs769983967 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 0.00001
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) rs144608823 0.00001
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr) rs749352103 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.793-18A>G rs2543173980 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.846A>G (p.Lys282=) rs200536315 0.00001
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter) rs900093826 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.974-17T>C rs2032183635 0.00001
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe) rs996229104 0.00001
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.13919809A>C rs6498486
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14028029)_(14031735_?)del
NC_000016.9:g.(?_14031613)_(14031725_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NM_005236.3(ERCC4):c.*1796T>C rs565142105
NM_005236.3(ERCC4):c.*1915A>G rs910231660
NM_005236.3(ERCC4):c.*2072T>G rs2032608833
NM_005236.3(ERCC4):c.*2455G>T rs1406055423
NM_005236.3(ERCC4):c.*248G>T rs541600279
NM_005236.3(ERCC4):c.*2572C>G rs979385159
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*2659T>C rs886051677
NM_005236.3(ERCC4):c.*2872A>C rs886051678
NM_005236.3(ERCC4):c.*2879A>C rs181178937
NM_005236.3(ERCC4):c.*3230C>G rs2032630522
NM_005236.3(ERCC4):c.*3753C>G rs886051682
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.*712A>G rs2032580067
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) rs1162384254
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
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=) rs745796159
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu) rs772092631
NM_005236.3(ERCC4):c.1068A>G (p.Lys356=)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=) rs768464180
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=) rs2543175925
NM_005236.3(ERCC4):c.1102+14T>C rs1035221570
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=) rs749724323
NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg) rs886051662
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val) rs2141605886
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=) rs2543178563
NM_005236.3(ERCC4):c.1191G>A (p.Glu397=)
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg) rs200759609
NM_005236.3(ERCC4):c.1213+11dup rs1432046651
NM_005236.3(ERCC4):c.1213+18G>A
NM_005236.3(ERCC4):c.1213+8A>G rs896172499
NM_005236.3(ERCC4):c.1214-10C>A rs768785658
NM_005236.3(ERCC4):c.1214-1G>A rs2543179894
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn) rs2543179967
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.1281A>G (p.Gly427=)
NM_005236.3(ERCC4):c.1283C>A (p.Ala428Glu)
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val) rs763619616
NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys) rs2032259728
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp) rs1596626472
NM_005236.3(ERCC4):c.1303C>A (p.Leu435Ile)
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=) rs2141606959
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln) rs748206066
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val) rs2543180355
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=) rs760701586
NM_005236.3(ERCC4):c.1373G>T (p.Ser458Ile)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu) rs201179693
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=) rs2543180425
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg) rs781758234
NM_005236.3(ERCC4):c.1402del (p.Arg468fs) rs1258096180
NM_005236.3(ERCC4):c.1417dup (p.Gln473fs)
NM_005236.3(ERCC4):c.1418A>G (p.Gln473Arg)
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=) rs41557814
NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr) rs886051663
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs) rs1355589374
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=) rs2543180826
NM_005236.3(ERCC4):c.1501C>A (p.Pro501Thr)
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.1525G>A (p.Asp509Asn)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn) rs2141607642
NM_005236.3(ERCC4):c.1581A>G (p.Glu527=)
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=) rs2543181196
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=) rs769817145
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly) rs2032270734
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu) rs1018012786
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg) rs773007457
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=) rs1217460973
NM_005236.3(ERCC4):c.1656dup (p.Ile553fs)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met) rs2543181408
NM_005236.3(ERCC4):c.1668G>A (p.Pro556=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr) rs2032273235
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val) rs1455880995
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1726A>C (p.Arg576=)
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=) rs1335536306
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=) rs1443100817
NM_005236.3(ERCC4):c.1768C>G (p.Gln590Glu)
NM_005236.3(ERCC4):c.1783A>G (p.Arg595Gly)
NM_005236.3(ERCC4):c.1784G>C (p.Arg595Thr)
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val) rs751782722
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>T (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.1811+16T>C rs2543181906
NM_005236.3(ERCC4):c.1811+9T>A rs1235957230
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 rs1596629020
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His) rs2543184075
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu) rs760922582
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.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala) rs2543184217
NM_005236.3(ERCC4):c.1892_1904+41dup
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.3(ERCC4):c.1901_1902del (p.Ile634fs)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=) rs771488066
NM_005236.3(ERCC4):c.1904+7C>T rs369428355
NM_005236.3(ERCC4):c.1905-20G>A
NM_005236.3(ERCC4):c.1905-20G>C rs780224931
NM_005236.3(ERCC4):c.1905-4A>G rs2543191119
NM_005236.3(ERCC4):c.1905-6C>G rs2141616963
NM_005236.3(ERCC4):c.1905-8_1909del
NM_005236.3(ERCC4):c.1912_1913delinsTT (p.Ala638Leu)
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe) rs2543191176
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu) rs2543161539
NM_005236.3(ERCC4):c.1959C>T (p.Asn653=)
NM_005236.3(ERCC4):c.1981G>A (p.Ala661Thr)
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=) rs373237850
NM_005236.3(ERCC4):c.1993G>A (p.Val665Ile)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
NM_005236.3(ERCC4):c.2017+19del rs2032486702
NM_005236.3(ERCC4):c.2017+1G>C rs587777943
NM_005236.3(ERCC4):c.2018-19A>T rs1380613987
NM_005236.3(ERCC4):c.2018-20T>C
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter) rs2141619663
NM_005236.3(ERCC4):c.2034T>G (p.Asn678Lys)
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val) rs2543194886
NM_005236.3(ERCC4):c.2055T>G (p.Val685=)
NM_005236.3(ERCC4):c.2057T>C (p.Val686Ala)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G rs1470696911
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile) rs746784825
NM_005236.3(ERCC4):c.208-19C>G rs781373518
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-7G>T rs2543164010
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val) rs2543195089
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu) rs2141619905
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.2170G>A (p.Val724Met)
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541
NM_005236.3(ERCC4):c.2183G>A (p.Ser728Asn)
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=) rs746273815
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn) rs2141620101
NM_005236.3(ERCC4):c.2208A>G (p.Leu736=)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2215G>A (p.Gly739Ser)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly) rs2543195485
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2236_2243delinsTGTACA (p.Ile746fs)
NM_005236.3(ERCC4):c.2243T>A (p.Met748Lys)
NM_005236.3(ERCC4):c.2244G>A (p.Met748Ile)
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys) rs2543195599
NM_005236.3(ERCC4):c.225G>A (p.Gln75=)
NM_005236.3(ERCC4):c.2261G>A (p.Arg754His)
NM_005236.3(ERCC4):c.2303C>T (p.Ser768Phe)
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
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.2316A>G (p.Arg772=)
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=) rs1190414966
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
NM_005236.3(ERCC4):c.2360A>G (p.Lys787Arg)
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro) rs753851289
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg) rs753851289
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val) rs1200828246
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr) rs772423662
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=) rs2543196149
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn) rs1003632156
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.2423C>T (p.Ala808Val)
NM_005236.3(ERCC4):c.2424A>G (p.Ala808=) rs1269027695
NM_005236.3(ERCC4):c.2425A>G (p.Thr809Ala)
NM_005236.3(ERCC4):c.2426C>T (p.Thr809Met)
NM_005236.3(ERCC4):c.2432A>T (p.Glu811Val)
NM_005236.3(ERCC4):c.2433G>A (p.Glu811=)
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) rs1031792719
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys) rs2543196320
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln) rs2543196321
NM_005236.3(ERCC4):c.2462C>T (p.Pro821Leu)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val) rs2543196413
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) rs755021656
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys) rs757931216
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.2506G>A (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala) rs761699907
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter) rs2543196608
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) rs202159590
NM_005236.3(ERCC4):c.2596T>A (p.Leu866Met)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg) rs2543196878
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.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile) rs2031987778
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=) rs2141621342
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=) rs2543196952
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe) rs1270535396
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly) rs2032563240
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=) rs2543197087
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=) rs2543197100
NM_005236.3(ERCC4):c.2706C>T (p.His902=) rs2543197119
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala) rs2543197123
NM_005236.3(ERCC4):c.2724C>G (p.Val908=) rs3136225
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser) rs556330628
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile) rs2543164189
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys) rs2543164230
NM_005236.3(ERCC4):c.294T>C (p.Tyr98=)
NM_005236.3(ERCC4):c.295G>C (p.Glu99Gln)
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter) rs2141940032
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=) rs2141940032
NM_005236.3(ERCC4):c.306A>G (p.Thr102=) rs764943215
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg) rs2543164277
NM_005236.3(ERCC4):c.319A>T (p.Ile107Leu)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser) rs1246174701
NM_005236.3(ERCC4):c.354C>A (p.Phe118Leu)
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.381A>G (p.Leu127=) rs2031990907
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+18T>C
NM_005236.3(ERCC4):c.388+1G>A
NM_005236.3(ERCC4):c.388+20_388+25del rs373361309
NM_005236.3(ERCC4):c.389-5C>A rs377224276
NM_005236.3(ERCC4):c.389-6C>G
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.412A>C (p.Arg138=) rs2032076152
NM_005236.3(ERCC4):c.412A>G (p.Arg138Gly)
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.431A>G (p.Gln144Arg) rs2032076810
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro) rs377014538
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His) rs121913050
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp) rs2032078115
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.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) rs2141944854
NM_005236.3(ERCC4):c.532G>A (p.Val178Met) rs149927607
NM_005236.3(ERCC4):c.534G>T (p.Val178=) rs957009045
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp) rs2032079848
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.561G>A (p.Val187=) rs2141944913
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.581del (p.Pro194fs) rs2543169545
NM_005236.3(ERCC4):c.584+14T>G
NM_005236.3(ERCC4):c.585-10G>A
NM_005236.3(ERCC4):c.585-14A>G
NM_005236.3(ERCC4):c.591T>C (p.His197=) rs1393847899
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala) rs2543171085
NM_005236.3(ERCC4):c.663dup (p.Met222fs) rs758362908
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.681T>G (p.Thr227=) rs2543171144
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His) rs201176880
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu) rs2543171280
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.756A>G (p.Leu252=)
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.792+1G>A
NM_005236.3(ERCC4):c.792+3A>G
NM_005236.3(ERCC4):c.792+7T>C rs2543171359
NM_005236.3(ERCC4):c.792+7T>G
NM_005236.3(ERCC4):c.792G>A (p.Lys264=)
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
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) rs1184125129
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg) rs2543174078
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.849_856del (p.Leu284fs) rs2543174139
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter) rs750971687
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter) rs753149023
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.891T>C (p.Tyr297=) rs886051660
NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)
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) rs1408777193
NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys) rs886051661
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val) rs2543174363
NM_005236.3(ERCC4):c.938dup (p.Arg314fs) rs780647908
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg) rs2543174417
NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)
NM_005236.3(ERCC4):c.973+17C>T rs754214169
NM_005236.3(ERCC4):c.973+20A>G rs1213973095
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.975T>G (p.Gly325=) rs1192175161
NM_005236.3(ERCC4):c.979C>T (p.Leu327=) rs2141949782
NM_005236.3(ERCC4):c.981G>A (p.Leu327=) rs763789717

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.