ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00052
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00022
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala) rs371392134 0.00017
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
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.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00008
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00008
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00008
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.260G>A (p.Arg87His) rs371487368 0.00007
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly) rs766951888 0.00007
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 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.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.1728A>T (p.Arg576Ser) rs765454246 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.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val) rs958390423 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 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.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala) rs1387660737 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile) rs777006157 0.00003
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln) rs777853585 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.79C>T (p.Leu27Phe) rs587778282 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.8C>T (p.Ser3Leu) rs148904556 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.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.143T>A (p.Phe48Tyr) rs779538282 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00002
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 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.2539G>T (p.Gly847Cys) rs972892828 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.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.83A>G (p.Asp28Gly) rs367608263 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005236.3(ERCC4):c.98T>C (p.Val33Ala) rs1287910269 0.00002
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.1110A>T (p.Lys370Asn) rs774643449 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.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.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.1364A>G (p.Lys455Arg) rs759312308 0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) rs757860762 0.00001
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser) rs1673227802 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr) rs2141937343 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 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.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.1900A>G (p.Ile634Val) rs533626393 0.00001
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met) rs749634352 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+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu) rs755577606 0.00001
NM_005236.3(ERCC4):c.208-3T>G rs773956647 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.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met) rs778971103 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.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.2620G>A (p.Ala874Thr) rs2032561804 0.00001
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs) rs1230954687 0.00001
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met) rs772294893 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.2T>G (p.Met1Arg) rs778859873 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.32C>T (p.Ala11Val) rs753596005 0.00001
NM_005236.3(ERCC4):c.34A>G (p.Met12Val) rs750358005 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.409C>G (p.His137Asp) rs2032076033 0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) rs754622238 0.00001
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys) rs760865964 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.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.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.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe) rs996229104 0.00001
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.9:g.(?_13915808)_(14724045_?)dup
NC_000016.9:g.(?_14031613)_(14031725_?)del
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
NM_005236.3(ERCC4):c.100G>A (p.Val34Met) rs61731714
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.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu) rs772092631
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro) rs2141937194
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.1204G>C (p.Gly402Arg) rs200759609
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.1283C>A (p.Ala428Glu)
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val) rs763619616
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp) rs1596626472
NM_005236.3(ERCC4):c.1303C>A (p.Leu435Ile)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln) rs748206066
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val) rs2543180355
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu) rs201179693
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.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg) rs2543161374
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.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.1657A>G (p.Ile553Val) rs376216413
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.1739T>C (p.Leu580Pro) rs2032274770
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.1799G>A (p.Gly600Glu) rs1336284412
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>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala) rs2543184217
NM_005236.3(ERCC4):c.1892_1904+41dup
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=) rs771488066
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser) rs2543161529
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.1981G>A (p.Ala661Thr)
NM_005236.3(ERCC4):c.1993G>A (p.Val665Ile)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val) rs2543194886
NM_005236.3(ERCC4):c.2057T>C (p.Val686Ala)
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val) rs1319883296
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.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.2170G>A (p.Val724Met)
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2183G>A (p.Ser728Asn)
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn) rs2141620101
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2215G>A (p.Gly739Ser)
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.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.2261G>A (p.Arg754His)
NM_005236.3(ERCC4):c.2303C>T (p.Ser768Phe)
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
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.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.2419C>A (p.His807Asn) rs1003632156
NM_005236.3(ERCC4):c.2423C>T (p.Ala808Val)
NM_005236.3(ERCC4):c.2426C>T (p.Thr809Met)
NM_005236.3(ERCC4):c.2432A>T (p.Glu811Val)
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.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.2524G>T (p.Glu842Ter) rs2543196608
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.25C>G (p.Arg9Gly) rs1326609617
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.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile) rs2031987778
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.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala) rs2543197123
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
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.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.36G>A (p.Met12Ile)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.3G>A (p.Met1Ile)
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
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.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.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.550A>G (p.Asn184Asp) rs2032079848
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala) rs2543171085
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
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.73G>C (p.Glu25Gln) rs560047653
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.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.792G>A (p.Lys264=)
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.820T>C (p.Trp274Arg) rs2543174078
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
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) rs1304744260
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys) rs1408777193
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val) rs2543174363
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568

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