ClinVar Miner

List of variants in gene RECQL reported as uncertain significance for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 601
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr) rs149763880 0.00037
NM_002907.4(RECQL):c.518T>A (p.Val173Asp) rs144313838 0.00019
NM_002907.4(RECQL):c.1181C>G (p.Ser394Cys) rs775276234 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_002907.4(RECQL):c.160G>A (p.Asp54Asn) rs751876256 0.00009
NM_002907.4(RECQL):c.321G>C (p.Lys107Asn) rs564685152 0.00008
NM_002907.4(RECQL):c.1171A>G (p.Met391Val) rs142106831 0.00006
NM_002907.4(RECQL):c.1285A>G (p.Met429Val) rs368679142 0.00006
NM_002907.4(RECQL):c.199G>A (p.Ala67Thr) rs754016839 0.00006
NM_002907.4(RECQL):c.788C>T (p.Thr263Met) rs773948800 0.00006
NM_002907.4(RECQL):c.1060A>C (p.Thr354Pro) rs778812336 0.00005
NM_002907.4(RECQL):c.245T>C (p.Ile82Thr) rs753864975 0.00005
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr) rs150889040 0.00005
NM_002907.4(RECQL):c.1129G>A (p.Gly377Arg) rs375822444 0.00004
NM_002907.4(RECQL):c.118A>G (p.Lys40Glu) rs138424869 0.00004
NM_002907.4(RECQL):c.1268T>C (p.Ile423Thr) rs376138398 0.00004
NM_002907.4(RECQL):c.1436G>A (p.Cys479Tyr) rs201851180 0.00004
NM_002907.4(RECQL):c.426del (p.Met144fs) rs753723230 0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_002907.4(RECQL):c.1270T>G (p.Phe424Val) rs371875016 0.00003
NM_002907.4(RECQL):c.1361G>A (p.Arg454His) rs776939203 0.00003
NM_002907.4(RECQL):c.1604C>T (p.Pro535Leu) rs144775194 0.00003
NM_002907.4(RECQL):c.610C>A (p.Leu204Ile) rs756524934 0.00003
NM_002907.4(RECQL):c.871C>T (p.Arg291Trp) rs140033676 0.00003
NM_002907.4(RECQL):c.1039A>C (p.Asn347His) rs1320111341 0.00002
NM_002907.4(RECQL):c.120_121insT (p.Val41fs) rs771968849 0.00002
NM_002907.4(RECQL):c.1219C>T (p.Arg407Ter) rs770499904 0.00002
NM_002907.4(RECQL):c.1265A>T (p.Asp422Val) rs746304101 0.00002
NM_002907.4(RECQL):c.1364G>C (p.Arg455Pro) rs778148225 0.00002
NM_002907.4(RECQL):c.1444_1446del (p.Ser482del) rs762926806 0.00002
NM_002907.4(RECQL):c.1532C>T (p.Thr511Ile) rs893569462 0.00002
NM_002907.4(RECQL):c.1540A>C (p.Lys514Gln) rs550099360 0.00002
NM_002907.4(RECQL):c.1633A>T (p.Ile545Phe) rs374053809 0.00002
NM_002907.4(RECQL):c.235G>A (p.Val79Ile) rs1308782847 0.00002
NM_002907.4(RECQL):c.376C>T (p.Pro126Ser) rs376895551 0.00002
NM_002907.4(RECQL):c.407T>C (p.Val136Ala) rs201331288 0.00002
NM_002907.4(RECQL):c.760A>G (p.Thr254Ala) rs200538229 0.00002
NM_002907.4(RECQL):c.766A>G (p.Thr256Ala) rs918537491 0.00002
NM_002907.4(RECQL):c.821G>A (p.Cys274Tyr) rs778241738 0.00002
NM_002907.4(RECQL):c.1025G>C (p.Gly342Ala) rs770714965 0.00001
NM_002907.4(RECQL):c.1034A>T (p.His345Leu) rs200764372 0.00001
NM_002907.4(RECQL):c.1040A>G (p.Asn347Ser) rs148384368 0.00001
NM_002907.4(RECQL):c.1055A>G (p.Asp352Gly) rs771788478 0.00001
NM_002907.4(RECQL):c.1057A>G (p.Lys353Glu) rs934313016 0.00001
NM_002907.4(RECQL):c.1069C>T (p.His357Tyr) rs377215617 0.00001
NM_002907.4(RECQL):c.1138A>T (p.Lys380Ter) rs145868233 0.00001
NM_002907.4(RECQL):c.1147G>A (p.Val383Met) rs750555750 0.00001
NM_002907.4(RECQL):c.115A>C (p.Lys39Gln) rs765195543 0.00001
NM_002907.4(RECQL):c.1160T>A (p.Ile387Asn) rs1178901516 0.00001
NM_002907.4(RECQL):c.1210C>T (p.Arg404Cys) rs780808359 0.00001
NM_002907.4(RECQL):c.1211G>A (p.Arg404His) rs770588203 0.00001
NM_002907.4(RECQL):c.1216+3A>G rs372364772 0.00001
NM_002907.4(RECQL):c.1255G>A (p.Gly419Ser) rs1326580844 0.00001
NM_002907.4(RECQL):c.1315A>C (p.Lys439Gln) rs1338692162 0.00001
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) rs201573409 0.00001
NM_002907.4(RECQL):c.142C>T (p.Gln48Ter) rs772102674 0.00001
NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter) rs370785080 0.00001
NM_002907.4(RECQL):c.149T>C (p.Leu50Ser) rs374048199 0.00001
NM_002907.4(RECQL):c.1525A>T (p.Lys509Ter) rs199925437 0.00001
NM_002907.4(RECQL):c.152A>G (p.Glu51Gly) rs767993044 0.00001
NM_002907.4(RECQL):c.1588G>A (p.Ala530Thr) rs768793126 0.00001
NM_002907.4(RECQL):c.1621G>C (p.Asp541His) rs1036542585 0.00001
NM_002907.4(RECQL):c.1642C>T (p.His548Tyr) rs200465170 0.00001
NM_002907.4(RECQL):c.1649T>A (p.Leu550Gln) rs374170116 0.00001
NM_002907.4(RECQL):c.217T>C (p.Phe73Leu) rs1202038688 0.00001
NM_002907.4(RECQL):c.310A>G (p.Met104Val) rs751278312 0.00001
NM_002907.4(RECQL):c.338T>C (p.Met113Thr) rs759043067 0.00001
NM_002907.4(RECQL):c.377C>T (p.Pro126Leu) rs1267616869 0.00001
NM_002907.4(RECQL):c.431T>C (p.Met144Thr) rs751285035 0.00001
NM_002907.4(RECQL):c.494G>A (p.Ser165Asn) rs1943298633 0.00001
NM_002907.4(RECQL):c.501+3A>G rs929469507 0.00001
NM_002907.4(RECQL):c.583G>T (p.Ala195Ser) rs1477534266 0.00001
NM_002907.4(RECQL):c.678G>T (p.Gln226His) rs777465647 0.00001
NM_002907.4(RECQL):c.697C>A (p.Pro233Thr) rs371196239 0.00001
NM_002907.4(RECQL):c.701A>G (p.Asp234Gly) rs904918008 0.00001
NM_002907.4(RECQL):c.779A>C (p.His260Pro) rs773219645 0.00001
NM_002907.4(RECQL):c.872G>A (p.Arg291Gln) rs772428927 0.00001
NM_002907.4(RECQL):c.880C>A (p.Pro294Thr) rs769346919 0.00001
NM_002907.4(RECQL):c.889A>G (p.Thr297Ala) rs146080041 0.00001
NM_002907.4(RECQL):c.907G>T (p.Asp303Tyr) rs1307316955 0.00001
NM_002907.4(RECQL):c.92G>A (p.Arg31Lys) rs1943416759 0.00001
NM_002907.4(RECQL):c.958T>C (p.Tyr320His) rs759142546 0.00001
NM_002907.3:c.1066_1067insALU
NM_002907.4(RECQL):c.-4A>T
NM_002907.4(RECQL):c.-5A>G
NM_002907.4(RECQL):c.1001T>A (p.Leu334Ter)
NM_002907.4(RECQL):c.1005G>C (p.Gln335His)
NM_002907.4(RECQL):c.1005G>T (p.Gln335His)
NM_002907.4(RECQL):c.1016T>C (p.Ile339Thr) rs1943074487
NM_002907.4(RECQL):c.1018C>T (p.His340Tyr)
NM_002907.4(RECQL):c.1025G>A (p.Gly342Asp)
NM_002907.4(RECQL):c.1033C>T (p.His345Tyr)
NM_002907.4(RECQL):c.103C>T (p.Leu35Phe)
NM_002907.4(RECQL):c.1048C>G (p.Pro350Ala)
NM_002907.4(RECQL):c.1055A>T (p.Asp352Val)
NM_002907.4(RECQL):c.1058A>C (p.Lys353Thr)
NM_002907.4(RECQL):c.1059G>T (p.Lys353Asn)
NM_002907.4(RECQL):c.1061C>T (p.Thr354Ile)
NM_002907.4(RECQL):c.1070A>C (p.His357Pro)
NM_002907.4(RECQL):c.1070A>G (p.His357Arg)
NM_002907.4(RECQL):c.1077A>C (p.Lys359Asn) rs970717805
NM_002907.4(RECQL):c.1090G>T (p.Glu364Ter)
NM_002907.4(RECQL):c.1096C>T (p.Gln366Ter)
NM_002907.4(RECQL):c.1099G>A (p.Val367Ile)
NM_002907.4(RECQL):c.1106T>C (p.Val369Ala)
NM_002907.4(RECQL):c.1111A>G (p.Thr371Ala)
NM_002907.4(RECQL):c.1111A>T (p.Thr371Ser)
NM_002907.4(RECQL):c.1114G>C (p.Val372Leu) rs2230003
NM_002907.4(RECQL):c.1115T>G (p.Val372Gly)
NM_002907.4(RECQL):c.1123G>A (p.Gly375Ser)
NM_002907.4(RECQL):c.1124G>C (p.Gly375Ala)
NM_002907.4(RECQL):c.1126A>G (p.Met376Val)
NM_002907.4(RECQL):c.1128G>A (p.Met376Ile)
NM_002907.4(RECQL):c.1129G>T (p.Gly377Ter)
NM_002907.4(RECQL):c.1135G>C (p.Asp379His)
NM_002907.4(RECQL):c.1141C>T (p.Pro381Ser)
NM_002907.4(RECQL):c.1144G>C (p.Asp382His)
NM_002907.4(RECQL):c.1145A>G (p.Asp382Gly)
NM_002907.4(RECQL):c.1148T>G (p.Val383Gly)
NM_002907.4(RECQL):c.1150A>G (p.Arg384Gly)
NM_002907.4(RECQL):c.1151G>A (p.Arg384Lys)
NM_002907.4(RECQL):c.1153T>C (p.Phe385Leu)
NM_002907.4(RECQL):c.1155_1158del (p.Phe385fs) rs1252404021
NM_002907.4(RECQL):c.1156G>A (p.Val386Ile)
NM_002907.4(RECQL):c.1160T>C (p.Ile387Thr)
NM_002907.4(RECQL):c.1163A>G (p.His388Arg)
NM_002907.4(RECQL):c.1165C>T (p.His389Tyr)
NM_002907.4(RECQL):c.1169C>T (p.Ser390Leu)
NM_002907.4(RECQL):c.1174A>C (p.Ser392Arg)
NM_002907.4(RECQL):c.1174A>G (p.Ser392Gly)
NM_002907.4(RECQL):c.1175G>A (p.Ser392Asn)
NM_002907.4(RECQL):c.1177A>G (p.Lys393Glu)
NM_002907.4(RECQL):c.117A>C (p.Lys39Asn)
NM_002907.4(RECQL):c.1181C>T (p.Ser394Phe) rs775276234
NM_002907.4(RECQL):c.1188A>C (p.Glu396Asp)
NM_002907.4(RECQL):c.1194T>A (p.Tyr398Ter)
NM_002907.4(RECQL):c.1195T>C (p.Tyr399His)
NM_002907.4(RECQL):c.1196A>G (p.Tyr399Cys) rs1275285634
NM_002907.4(RECQL):c.1197C>G (p.Tyr399Ter)
NM_002907.4(RECQL):c.1204A>G (p.Ser402Gly)
NM_002907.4(RECQL):c.1205G>A (p.Ser402Asn)
NM_002907.4(RECQL):c.120del (p.Val41fs)
NM_002907.4(RECQL):c.120dup (p.Val41fs) rs745659712
NM_002907.4(RECQL):c.1211G>C (p.Arg404Pro)
NM_002907.4(RECQL):c.1214C>T (p.Ala405Val)
NM_002907.4(RECQL):c.1216G>T (p.Gly406Cys)
NM_002907.4(RECQL):c.121del (p.Val41fs)
NM_002907.4(RECQL):c.1220G>A (p.Arg407Gln) rs1176731657
NM_002907.4(RECQL):c.1220G>T (p.Arg407Leu)
NM_002907.4(RECQL):c.1225G>A (p.Asp409Asn)
NM_002907.4(RECQL):c.1228A>G (p.Met410Val)
NM_002907.4(RECQL):c.1230G>T (p.Met410Ile)
NM_002907.4(RECQL):c.1237G>C (p.Asp413His) rs556850507
NM_002907.4(RECQL):c.1239C>A (p.Asp413Glu)
NM_002907.4(RECQL):c.1239C>G (p.Asp413Glu) rs749586645
NM_002907.4(RECQL):c.1240T>C (p.Cys414Arg) rs1351176542
NM_002907.4(RECQL):c.1240T>G (p.Cys414Gly)
NM_002907.4(RECQL):c.1248G>C (p.Leu416Phe)
NM_002907.4(RECQL):c.1250A>G (p.Tyr417Cys)
NM_002907.4(RECQL):c.1253A>C (p.Tyr418Ser) rs1295951241
NM_002907.4(RECQL):c.1254C>A (p.Tyr418Ter) rs1227196235
NM_002907.4(RECQL):c.1258T>C (p.Phe420Leu)
NM_002907.4(RECQL):c.1259T>C (p.Phe420Ser)
NM_002907.4(RECQL):c.125T>C (p.Leu42Pro)
NM_002907.4(RECQL):c.1265A>G (p.Asp422Gly)
NM_002907.4(RECQL):c.1270T>C (p.Phe424Leu)
NM_002907.4(RECQL):c.1274G>C (p.Arg425Thr)
NM_002907.4(RECQL):c.1276A>G (p.Ile426Val)
NM_002907.4(RECQL):c.1277T>C (p.Ile426Thr)
NM_002907.4(RECQL):c.1278A>G (p.Ile426Met)
NM_002907.4(RECQL):c.1287G>A (p.Met429Ile)
NM_002907.4(RECQL):c.1289T>C (p.Val430Ala)
NM_002907.4(RECQL):c.128C>A (p.Thr43Lys)
NM_002907.4(RECQL):c.128C>T (p.Thr43Ile)
NM_002907.4(RECQL):c.1291G>A (p.Val431Met)
NM_002907.4(RECQL):c.1291G>T (p.Val431Leu)
NM_002907.4(RECQL):c.1294A>C (p.Met432Leu)
NM_002907.4(RECQL):c.1295T>A (p.Met432Lys)
NM_002907.4(RECQL):c.1300A>T (p.Asn434Tyr) rs752884057
NM_002907.4(RECQL):c.1303G>A (p.Val435Met)
NM_002907.4(RECQL):c.1304T>A (p.Val435Glu)
NM_002907.4(RECQL):c.1306G>C (p.Gly436Arg)
NM_002907.4(RECQL):c.1307G>A (p.Gly436Glu)
NM_002907.4(RECQL):c.1310A>T (p.Gln437Leu)
NM_002907.4(RECQL):c.1321dup (p.Tyr441fs)
NM_002907.4(RECQL):c.1323T>G (p.Tyr441Ter) rs376037221
NM_002907.4(RECQL):c.1324G>A (p.Glu442Lys)
NM_002907.4(RECQL):c.1327A>G (p.Met443Val)
NM_002907.4(RECQL):c.1329G>A (p.Met443Ile)
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) rs775055596
NM_002907.4(RECQL):c.1331T>A (p.Val444Glu)
NM_002907.4(RECQL):c.1339T>C (p.Cys447Arg) rs113415183
NM_002907.4(RECQL):c.1350A>G (p.Ile450Met)
NM_002907.4(RECQL):c.1353_1355+1del rs752881895
NM_002907.4(RECQL):c.1355A>G (p.Lys452Arg)
NM_002907.4(RECQL):c.1356A>C (p.Lys452Asn)
NM_002907.4(RECQL):c.1359T>G (p.Cys453Trp)
NM_002907.4(RECQL):c.1360C>T (p.Arg454Cys) rs376377526
NM_002907.4(RECQL):c.1363C>A (p.Arg455Ser)
NM_002907.4(RECQL):c.1363C>T (p.Arg455Cys) rs199740132
NM_002907.4(RECQL):c.1364G>A (p.Arg455His) rs778148225
NM_002907.4(RECQL):c.136A>G (p.Ile46Val)
NM_002907.4(RECQL):c.1370T>C (p.Leu457Ser)
NM_002907.4(RECQL):c.1373T>A (p.Met458Lys)
NM_002907.4(RECQL):c.1375G>A (p.Ala459Thr)
NM_002907.4(RECQL):c.1375G>C (p.Ala459Pro)
NM_002907.4(RECQL):c.1378C>T (p.Gln460Ter)
NM_002907.4(RECQL):c.137T>G (p.Ile46Arg)
NM_002907.4(RECQL):c.1381C>T (p.His461Tyr)
NM_002907.4(RECQL):c.1385T>G (p.Phe462Cys)
NM_002907.4(RECQL):c.1387G>A (p.Asp463Asn)
NM_002907.4(RECQL):c.1390dup (p.Glu464fs)
NM_002907.4(RECQL):c.1393G>A (p.Val465Ile)
NM_002907.4(RECQL):c.139A>T (p.Lys47Ter)
NM_002907.4(RECQL):c.1406A>G (p.Glu469Gly)
NM_002907.4(RECQL):c.1422G>C (p.Met474Ile)
NM_002907.4(RECQL):c.1426G>C (p.Asp476His)
NM_002907.4(RECQL):c.1426G>T (p.Asp476Tyr)
NM_002907.4(RECQL):c.1427A>G (p.Asp476Gly)
NM_002907.4(RECQL):c.1430A>G (p.Asn477Ser)
NM_002907.4(RECQL):c.1433G>A (p.Cys478Tyr)
NM_002907.4(RECQL):c.143A>C (p.Gln48Pro)
NM_002907.4(RECQL):c.1441G>T (p.Asp481Tyr)
NM_002907.4(RECQL):c.1441_1442delinsTT (p.Asp481Phe)
NM_002907.4(RECQL):c.1442A>T (p.Asp481Val)
NM_002907.4(RECQL):c.1443C>A (p.Asp481Glu)
NM_002907.4(RECQL):c.1445G>A (p.Ser482Asn)
NM_002907.4(RECQL):c.1448C>T (p.Ala483Val)
NM_002907.4(RECQL):c.144G>T (p.Gln48His)
NM_002907.4(RECQL):c.1453G>C (p.Glu485Gln)
NM_002907.4(RECQL):c.1456A>G (p.Arg486Gly)
NM_002907.4(RECQL):c.145T>C (p.Cys49Arg)
NM_002907.4(RECQL):c.145T>G (p.Cys49Gly)
NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs)
NM_002907.4(RECQL):c.1466T>C (p.Ile489Thr)
NM_002907.4(RECQL):c.1466_1470del (p.Ile489fs) rs2137317509
NM_002907.4(RECQL):c.1466dup (p.Thr490fs)
NM_002907.4(RECQL):c.146G>A (p.Cys49Tyr)
NM_002907.4(RECQL):c.146G>C (p.Cys49Ser)
NM_002907.4(RECQL):c.1471G>C (p.Glu491Gln)
NM_002907.4(RECQL):c.1472_1473del (p.Glu491fs)
NM_002907.4(RECQL):c.1473G>C (p.Glu491Asp)
NM_002907.4(RECQL):c.1473_1501del (p.Tyr492fs)
NM_002907.4(RECQL):c.1474T>A (p.Tyr492Asn)
NM_002907.4(RECQL):c.1477T>C (p.Cys493Arg)
NM_002907.4(RECQL):c.1478G>A (p.Cys493Tyr)
NM_002907.4(RECQL):c.1480A>G (p.Arg494Gly)
NM_002907.4(RECQL):c.1483G>A (p.Asp495Asn)
NM_002907.4(RECQL):c.1484A>T (p.Asp495Val)
NM_002907.4(RECQL):c.1485T>G (p.Asp495Glu)
NM_002907.4(RECQL):c.1489dup (p.Ile497fs) rs768421666
NM_002907.4(RECQL):c.1490T>C (p.Ile497Thr)
NM_002907.4(RECQL):c.1490T>G (p.Ile497Ser)
NM_002907.4(RECQL):c.1491C>G (p.Ile497Met)
NM_002907.4(RECQL):c.1494G>T (p.Lys498Asn)
NM_002907.4(RECQL):c.1504C>G (p.Gln502Glu)
NM_002907.4(RECQL):c.1505A>G (p.Gln502Arg)
NM_002907.4(RECQL):c.1506G>C (p.Gln502His)
NM_002907.4(RECQL):c.1512_1513del (p.Glu505fs)
NM_002907.4(RECQL):c.1513G>T (p.Glu505Ter)
NM_002907.4(RECQL):c.1513del (p.Glu505fs)
NM_002907.4(RECQL):c.1515A>T (p.Glu505Asp)
NM_002907.4(RECQL):c.1515del (p.Glu505fs)
NM_002907.4(RECQL):c.1516C>G (p.Leu506Val)
NM_002907.4(RECQL):c.1517T>A (p.Leu506Gln)
NM_002907.4(RECQL):c.1520A>T (p.Asn507Ile)
NM_002907.4(RECQL):c.1521T>A (p.Asn507Lys) rs2137316954
NM_002907.4(RECQL):c.1522G>T (p.Glu508Ter)
NM_002907.4(RECQL):c.1529_1530del (p.Leu510fs)
NM_002907.4(RECQL):c.1539G>T (p.Leu513Phe)
NM_002907.4(RECQL):c.1540A>G (p.Lys514Glu)
NM_002907.4(RECQL):c.1541A>T (p.Lys514Ile)
NM_002907.4(RECQL):c.1544T>C (p.Leu515Pro)
NM_002907.4(RECQL):c.1547T>C (p.Ile516Thr) rs1259464694
NM_002907.4(RECQL):c.1548T>G (p.Ile516Met) rs377658330
NM_002907.4(RECQL):c.1548dup (p.Asp517Ter) rs1942965081
NM_002907.4(RECQL):c.1549_1552del (p.Asp517fs)
NM_002907.4(RECQL):c.1550A>G (p.Asp517Gly)
NM_002907.4(RECQL):c.1552T>A (p.Ser518Thr)
NM_002907.4(RECQL):c.1556G>A (p.Trp519Ter)
NM_002907.4(RECQL):c.1559T>A (p.Met520Lys)
NM_002907.4(RECQL):c.1567G>C (p.Gly523Arg)
NM_002907.4(RECQL):c.1570G>A (p.Ala524Thr)
NM_002907.4(RECQL):c.1571C>G (p.Ala524Gly)
NM_002907.4(RECQL):c.1574C>G (p.Ala525Gly)
NM_002907.4(RECQL):c.1576A>G (p.Lys526Glu)
NM_002907.4(RECQL):c.1582A>G (p.Arg528Gly)
NM_002907.4(RECQL):c.1584_1585del (p.Arg528fs)
NM_002907.4(RECQL):c.1586T>C (p.Val529Ala) rs1942963659
NM_002907.4(RECQL):c.158C>T (p.Ser53Phe) rs1406943068
NM_002907.4(RECQL):c.1591G>C (p.Gly531Arg)
NM_002907.4(RECQL):c.1600G>A (p.Ala534Thr)
NM_002907.4(RECQL):c.1601C>T (p.Ala534Val)
NM_002907.4(RECQL):c.1603_1621del (p.Pro535fs)
NM_002907.4(RECQL):c.1604C>A (p.Pro535His)
NM_002907.4(RECQL):c.1604C>G (p.Pro535Arg)
NM_002907.4(RECQL):c.1606_1612delinsTG (p.Thr536fs)
NM_002907.4(RECQL):c.1607C>T (p.Thr536Ile)
NM_002907.4(RECQL):c.160G>C (p.Asp54His) rs751876256
NM_002907.4(RECQL):c.1612C>G (p.Pro538Ala)
NM_002907.4(RECQL):c.1616G>A (p.Arg539His) rs367657766
NM_002907.4(RECQL):c.1616G>C (p.Arg539Pro) rs367657766
NM_002907.4(RECQL):c.1616G>T (p.Arg539Leu)
NM_002907.4(RECQL):c.1618G>A (p.Glu540Lys)
NM_002907.4(RECQL):c.1619A>C (p.Glu540Ala)
NM_002907.4(RECQL):c.161A>G (p.Asp54Gly)
NM_002907.4(RECQL):c.1620del (p.Asp541fs)
NM_002907.4(RECQL):c.1627_1629del (p.Glu543del)
NM_002907.4(RECQL):c.1628AGA[1] (p.Lys544del) rs749841294
NM_002907.4(RECQL):c.1629G>T (p.Glu543Asp)
NM_002907.4(RECQL):c.1631A>C (p.Lys544Thr)
NM_002907.4(RECQL):c.1631A>G (p.Lys544Arg)
NM_002907.4(RECQL):c.1633A>G (p.Ile545Val)
NM_002907.4(RECQL):c.1636A>T (p.Ile546Phe)
NM_002907.4(RECQL):c.1637T>C (p.Ile546Thr)
NM_002907.4(RECQL):c.1640C>T (p.Ala547Val)
NM_002907.4(RECQL):c.1643_1644del (p.His548fs)
NM_002907.4(RECQL):c.1645T>C (p.Phe549Leu)
NM_002907.4(RECQL):c.1649T>C (p.Leu550Pro)
NM_002907.4(RECQL):c.1651A>G (p.Ile551Val) rs767718965
NM_002907.4(RECQL):c.1651dup (p.Ile551fs)
NM_002907.4(RECQL):c.1652T>G (p.Ile551Arg) rs1942959774
NM_002907.4(RECQL):c.1654C>G (p.Gln552Glu)
NM_002907.4(RECQL):c.1654C>T (p.Gln552Ter)
NM_002907.4(RECQL):c.1656G>T (p.Gln552His)
NM_002907.4(RECQL):c.1658A>G (p.Gln553Arg)
NM_002907.4(RECQL):c.1659G>C (p.Gln553His)
NM_002907.4(RECQL):c.1660T>A (p.Tyr554Asn)
NM_002907.4(RECQL):c.1666_1667+3dup
NM_002907.4(RECQL):c.1667_1667+3del rs564485792
NM_002907.4(RECQL):c.169G>A (p.Ala57Thr)
NM_002907.4(RECQL):c.169del (p.Ala57fs) rs1040950644
NM_002907.4(RECQL):c.173G>A (p.Ser58Asn)
NM_002907.4(RECQL):c.179A>G (p.Glu60Gly)
NM_002907.4(RECQL):c.194C>T (p.Pro65Leu)
NM_002907.4(RECQL):c.203G>A (p.Trp68Ter)
NM_002907.4(RECQL):c.207T>A (p.Asn69Lys)
NM_002907.4(RECQL):c.211G>A (p.Glu71Lys) rs750704118
NM_002907.4(RECQL):c.214G>A (p.Asp72Asn)
NM_002907.4(RECQL):c.215A>G (p.Asp72Gly)
NM_002907.4(RECQL):c.220C>T (p.Pro74Ser)
NM_002907.4(RECQL):c.226T>C (p.Ser76Pro)
NM_002907.4(RECQL):c.227C>A (p.Ser76Tyr)
NM_002907.4(RECQL):c.229G>A (p.Gly77Ser)
NM_002907.4(RECQL):c.22del (p.Thr8fs)
NM_002907.4(RECQL):c.233A>G (p.Lys78Arg)
NM_002907.4(RECQL):c.235del (p.Val79fs)
NM_002907.4(RECQL):c.236_241del (p.Val79_Lys80del)
NM_002907.4(RECQL):c.23C>T (p.Thr8Ile)
NM_002907.4(RECQL):c.242A>G (p.Asp81Gly)
NM_002907.4(RECQL):c.256G>A (p.Val86Ile)
NM_002907.4(RECQL):c.257T>C (p.Val86Ala)
NM_002907.4(RECQL):c.263A>G (p.Lys88Arg)
NM_002907.4(RECQL):c.26A>C (p.Glu9Ala)
NM_002907.4(RECQL):c.271A>G (p.Lys91Glu)
NM_002907.4(RECQL):c.27G>C (p.Glu9Asp) rs2136756423
NM_002907.4(RECQL):c.280C>T (p.Pro94Ser) rs1943386136
NM_002907.4(RECQL):c.281C>A (p.Pro94Gln)
NM_002907.4(RECQL):c.283C>G (p.Leu95Val) rs1040223606
NM_002907.4(RECQL):c.283C>T (p.Leu95Phe) rs1040223606
NM_002907.4(RECQL):c.287A>G (p.Gln96Arg)
NM_002907.4(RECQL):c.289C>T (p.Leu97Phe)
NM_002907.4(RECQL):c.298A>C (p.Ile100Leu)
NM_002907.4(RECQL):c.298A>G (p.Ile100Val)
NM_002907.4(RECQL):c.299T>G (p.Ile100Ser)
NM_002907.4(RECQL):c.304G>C (p.Val102Leu)
NM_002907.4(RECQL):c.304_308del (p.Val102fs)
NM_002907.4(RECQL):c.304del (p.Asn101_Val102insTer)
NM_002907.4(RECQL):c.307A>C (p.Thr103Pro)
NM_002907.4(RECQL):c.313G>A (p.Ala105Thr)
NM_002907.4(RECQL):c.316G>C (p.Gly106Arg)
NM_002907.4(RECQL):c.317G>C (p.Gly106Ala)
NM_002907.4(RECQL):c.320A>G (p.Lys107Arg) rs1943384583
NM_002907.4(RECQL):c.324G>C (p.Glu108Asp)
NM_002907.4(RECQL):c.329T>G (p.Phe110Cys)
NM_002907.4(RECQL):c.32_33del (p.Leu11fs)
NM_002907.4(RECQL):c.334G>A (p.Val112Ile)
NM_002907.4(RECQL):c.336dup (p.Met113fs)
NM_002907.4(RECQL):c.339G>A (p.Met113Ile)
NM_002907.4(RECQL):c.352G>A (p.Gly118Arg)
NM_002907.4(RECQL):c.358A>C (p.Ser120Arg)
NM_002907.4(RECQL):c.358A>G (p.Ser120Gly)
NM_002907.4(RECQL):c.35A>C (p.Asp12Ala)
NM_002907.4(RECQL):c.35A>T (p.Asp12Val)
NM_002907.4(RECQL):c.363_364del (p.Cys122fs)
NM_002907.4(RECQL):c.365G>C (p.Cys122Ser)
NM_002907.4(RECQL):c.366T>G (p.Cys122Trp)
NM_002907.4(RECQL):c.367T>C (p.Tyr123His)
NM_002907.4(RECQL):c.368A>G (p.Tyr123Cys)
NM_002907.4(RECQL):c.370C>G (p.Gln124Glu)
NM_002907.4(RECQL):c.371A>T (p.Gln124Leu) rs1183902842
NM_002907.4(RECQL):c.380C>T (p.Ala127Val)
NM_002907.4(RECQL):c.389C>T (p.Ser130Leu)
NM_002907.4(RECQL):c.38C>T (p.Ser13Phe)
NM_002907.4(RECQL):c.394G>C (p.Gly132Arg)
NM_002907.4(RECQL):c.395-4_399dup
NM_002907.4(RECQL):c.395G>A (p.Gly132Asp)
NM_002907.4(RECQL):c.395G>T (p.Gly132Val)
NM_002907.4(RECQL):c.398T>C (p.Phe133Ser)
NM_002907.4(RECQL):c.401C>G (p.Thr134Arg)
NM_002907.4(RECQL):c.403C>A (p.Leu135Ile)
NM_002907.4(RECQL):c.403C>G (p.Leu135Val)
NM_002907.4(RECQL):c.403C>T (p.Leu135Phe)
NM_002907.4(RECQL):c.406_408del (p.Val136del)
NM_002907.4(RECQL):c.421A>C (p.Ile141Leu)
NM_002907.4(RECQL):c.421A>T (p.Ile141Phe)
NM_002907.4(RECQL):c.423C>G (p.Ile141Met)
NM_002907.4(RECQL):c.425C>G (p.Ser142Cys)
NM_002907.4(RECQL):c.427_428del (p.Leu143fs) rs1473421036
NM_002907.4(RECQL):c.430A>G (p.Met144Val) rs544479400
NM_002907.4(RECQL):c.430A>T (p.Met144Leu) rs544479400
NM_002907.4(RECQL):c.433G>C (p.Glu145Gln)
NM_002907.4(RECQL):c.436G>A (p.Asp146Asn)
NM_002907.4(RECQL):c.439C>G (p.Gln147Glu)
NM_002907.4(RECQL):c.448G>A (p.Val150Ile)
NM_002907.4(RECQL):c.457C>T (p.Gln153Ter)
NM_002907.4(RECQL):c.458A>C (p.Gln153Pro)
NM_002907.4(RECQL):c.476C>A (p.Thr159Asn)
NM_002907.4(RECQL):c.478A>G (p.Met160Val)
NM_002907.4(RECQL):c.479T>C (p.Met160Thr)
NM_002907.4(RECQL):c.480G>A (p.Met160Ile) rs1415873392
NM_002907.4(RECQL):c.485A>G (p.Asn162Ser)
NM_002907.4(RECQL):c.487G>T (p.Ala163Ser) rs1565570972
NM_002907.4(RECQL):c.493A>C (p.Ser165Arg)
NM_002907.4(RECQL):c.493A>G (p.Ser165Gly)
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_002907.4(RECQL):c.499A>G (p.Lys167Glu) rs2137387431
NM_002907.4(RECQL):c.49G>A (p.Glu17Lys)
NM_002907.4(RECQL):c.506A>C (p.His169Pro)
NM_002907.4(RECQL):c.508G>A (p.Val170Ile)
NM_002907.4(RECQL):c.509T>G (p.Val170Gly)
NM_002907.4(RECQL):c.511A>G (p.Lys171Glu)
NM_002907.4(RECQL):c.516G>C (p.Trp172Cys)
NM_002907.4(RECQL):c.518T>C (p.Val173Ala)
NM_002907.4(RECQL):c.521A>T (p.His174Leu)
NM_002907.4(RECQL):c.524C>T (p.Ala175Val)
NM_002907.4(RECQL):c.526G>C (p.Glu176Gln)
NM_002907.4(RECQL):c.529A>C (p.Met177Leu)
NM_002907.4(RECQL):c.531G>A (p.Met177Ile)
NM_002907.4(RECQL):c.541A>T (p.Asn181Tyr)
NM_002907.4(RECQL):c.542A>C (p.Asn181Thr)
NM_002907.4(RECQL):c.542A>G (p.Asn181Ser)
NM_002907.4(RECQL):c.545C>A (p.Ser182Tyr)
NM_002907.4(RECQL):c.548A>C (p.Glu183Ala) rs2137374659
NM_002907.4(RECQL):c.553A>C (p.Lys185Gln)
NM_002907.4(RECQL):c.557T>C (p.Leu186Pro)
NM_002907.4(RECQL):c.562del (p.Tyr188fs)
NM_002907.4(RECQL):c.563A>G (p.Tyr188Cys) rs2137374594
NM_002907.4(RECQL):c.566T>A (p.Val189Glu)
NM_002907.4(RECQL):c.566T>C (p.Val189Ala)
NM_002907.4(RECQL):c.566T>G (p.Val189Gly)
NM_002907.4(RECQL):c.57T>G (p.His19Gln)
NM_002907.4(RECQL):c.580A>G (p.Ile194Val)
NM_002907.4(RECQL):c.581T>C (p.Ile194Thr)
NM_002907.4(RECQL):c.582T>G (p.Ile194Met)
NM_002907.4(RECQL):c.583G>A (p.Ala195Thr)
NM_002907.4(RECQL):c.583G>C (p.Ala195Pro)
NM_002907.4(RECQL):c.584C>G (p.Ala195Gly)
NM_002907.4(RECQL):c.587A>G (p.Lys196Arg)
NM_002907.4(RECQL):c.590G>T (p.Ser197Ile) rs2137374344
NM_002907.4(RECQL):c.597G>A (p.Met199Ile)
NM_002907.4(RECQL):c.597G>T (p.Met199Ile)
NM_002907.4(RECQL):c.59C>G (p.Ala20Gly)
NM_002907.4(RECQL):c.5C>T (p.Ala2Val)
NM_002907.4(RECQL):c.600T>G (p.Phe200Leu)
NM_002907.4(RECQL):c.603G>T (p.Met201Ile)
NM_002907.4(RECQL):c.608G>T (p.Arg203Ile)
NM_002907.4(RECQL):c.611T>A (p.Leu204Gln)
NM_002907.4(RECQL):c.613G>A (p.Glu205Lys)
NM_002907.4(RECQL):c.613G>C (p.Glu205Gln)
NM_002907.4(RECQL):c.615G>T (p.Glu205Asp)
NM_002907.4(RECQL):c.622T>C (p.Tyr208His) rs1339330997
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys) rs2137374083
NM_002907.4(RECQL):c.624T>A (p.Tyr208Ter)
NM_002907.4(RECQL):c.629C>A (p.Ala210Glu)
NM_002907.4(RECQL):c.629C>T (p.Ala210Val)
NM_002907.4(RECQL):c.631A>G (p.Arg211Gly)
NM_002907.4(RECQL):c.633_635del (p.Arg212del) rs1397566136
NM_002907.4(RECQL):c.638T>G (p.Phe213Cys)
NM_002907.4(RECQL):c.640A>T (p.Thr214Ser)
NM_002907.4(RECQL):c.641C>T (p.Thr214Ile)
NM_002907.4(RECQL):c.643C>G (p.Arg215Gly)
NM_002907.4(RECQL):c.643C>T (p.Arg215Ter) rs376839517
NM_002907.4(RECQL):c.644G>A (p.Arg215Gln) rs561515655
NM_002907.4(RECQL):c.647T>C (p.Ile216Thr)
NM_002907.4(RECQL):c.649G>A (p.Ala217Thr)
NM_002907.4(RECQL):c.650C>T (p.Ala217Val)
NM_002907.4(RECQL):c.664C>T (p.His222Tyr)
NM_002907.4(RECQL):c.673A>C (p.Ser225Arg)
NM_002907.4(RECQL):c.673A>T (p.Ser225Cys)
NM_002907.4(RECQL):c.674G>A (p.Ser225Asn)
NM_002907.4(RECQL):c.682G>C (p.Gly228Arg)
NM_002907.4(RECQL):c.686A>G (p.His229Arg)
NM_002907.4(RECQL):c.686A>T (p.His229Leu)
NM_002907.4(RECQL):c.687T>A (p.His229Gln)
NM_002907.4(RECQL):c.689A>G (p.Asp230Gly)
NM_002907.4(RECQL):c.694A>G (p.Arg232Gly) rs747710330
NM_002907.4(RECQL):c.695G>A (p.Arg232Lys)
NM_002907.4(RECQL):c.695G>C (p.Arg232Thr)
NM_002907.4(RECQL):c.697C>T (p.Pro233Ser)
NM_002907.4(RECQL):c.709G>A (p.Ala237Thr)
NM_002907.4(RECQL):c.712C>T (p.Leu238Phe)
NM_002907.4(RECQL):c.718A>G (p.Ile240Val)
NM_002907.4(RECQL):c.725dup (p.Arg243fs)
NM_002907.4(RECQL):c.727C>T (p.Arg243Trp)
NM_002907.4(RECQL):c.728G>A (p.Arg243Gln) rs2137351160
NM_002907.4(RECQL):c.730C>T (p.Gln244Ter) rs1046567727
NM_002907.4(RECQL):c.732G>C (p.Gln244His)
NM_002907.4(RECQL):c.734T>G (p.Phe245Cys)
NM_002907.4(RECQL):c.735C>G (p.Phe245Leu)
NM_002907.4(RECQL):c.736C>G (p.Pro246Ala)
NM_002907.4(RECQL):c.737C>T (p.Pro246Leu)
NM_002907.4(RECQL):c.739A>G (p.Asn247Asp)
NM_002907.4(RECQL):c.743C>T (p.Ala248Val)
NM_002907.4(RECQL):c.761C>G (p.Thr254Ser)
NM_002907.4(RECQL):c.769G>C (p.Ala257Pro)
NM_002907.4(RECQL):c.76C>T (p.Gln26Ter) rs1943417516
NM_002907.4(RECQL):c.773C>T (p.Thr258Ile)
NM_002907.4(RECQL):c.77A>G (p.Gln26Arg)
NM_002907.4(RECQL):c.781G>A (p.Val261Ile)
NM_002907.4(RECQL):c.782T>G (p.Val261Gly)
NM_002907.4(RECQL):c.788C>G (p.Thr263Arg)
NM_002907.4(RECQL):c.792T>A (p.Asp264Glu) rs1050592994
NM_002907.4(RECQL):c.798G>T (p.Gln266His)
NM_002907.4(RECQL):c.801_803del (p.Lys267_Ile268delinsAsn)
NM_002907.4(RECQL):c.802A>G (p.Ile268Val)
NM_002907.4(RECQL):c.804T>G (p.Ile268Met)
NM_002907.4(RECQL):c.805T>A (p.Leu269Met)
NM_002907.4(RECQL):c.805T>G (p.Leu269Val)
NM_002907.4(RECQL):c.807G>T (p.Leu269Phe)
NM_002907.4(RECQL):c.80A>G (p.Glu27Gly)
NM_002907.4(RECQL):c.810C>G (p.Cys270Trp)
NM_002907.4(RECQL):c.811A>T (p.Ile271Phe)
NM_002907.4(RECQL):c.812T>C (p.Ile271Thr)
NM_002907.4(RECQL):c.815A>G (p.Glu272Gly)
NM_002907.4(RECQL):c.817A>C (p.Lys273Gln)
NM_002907.4(RECQL):c.818del (p.Lys273fs)
NM_002907.4(RECQL):c.820T>G (p.Cys274Gly)
NM_002907.4(RECQL):c.820del (p.Cys274fs)
NM_002907.4(RECQL):c.822TTTTAC[1] (p.275FT[1])
NM_002907.4(RECQL):c.829T>C (p.Phe277Leu)
NM_002907.4(RECQL):c.82C>T (p.Leu28Phe) rs1565574166
NM_002907.4(RECQL):c.833C>T (p.Thr278Ile)
NM_002907.4(RECQL):c.835G>A (p.Ala279Thr)
NM_002907.4(RECQL):c.838T>G (p.Ser280Ala)
NM_002907.4(RECQL):c.839C>A (p.Ser280Tyr) rs748146458
NM_002907.4(RECQL):c.839C>T (p.Ser280Phe)
NM_002907.4(RECQL):c.842T>C (p.Phe281Ser) rs2137349926
NM_002907.4(RECQL):c.851C>A (p.Pro284Gln)
NM_002907.4(RECQL):c.854A>G (p.Asn285Ser)
NM_002907.4(RECQL):c.856C>A (p.Leu286Ile)
NM_002907.4(RECQL):c.859T>C (p.Tyr287His)
NM_002907.4(RECQL):c.85A>C (p.Thr29Pro)
NM_002907.4(RECQL):c.85dup (p.Thr29fs)
NM_002907.4(RECQL):c.863A>G (p.Tyr288Cys) rs748842496
NM_002907.4(RECQL):c.863A>T (p.Tyr288Phe)
NM_002907.4(RECQL):c.863del (p.Tyr288fs)
NM_002907.4(RECQL):c.867G>T (p.Glu289Asp)
NM_002907.4(RECQL):c.86C>G (p.Thr29Arg) rs145067169
NM_002907.4(RECQL):c.876G>C (p.Gln292His)
NM_002907.4(RECQL):c.880C>T (p.Pro294Ser)
NM_002907.4(RECQL):c.883T>C (p.Ser295Pro)
NM_002907.4(RECQL):c.886A>G (p.Asn296Asp)
NM_002907.4(RECQL):c.887A>G (p.Asn296Ser) rs1478687167
NM_002907.4(RECQL):c.88G>T (p.Glu30Ter)
NM_002907.4(RECQL):c.897T>G (p.Asp299Glu)
NM_002907.4(RECQL):c.902T>C (p.Ile301Thr)
NM_002907.4(RECQL):c.910A>T (p.Ile304Phe)
NM_002907.4(RECQL):c.911T>C (p.Ile304Thr)
NM_002907.4(RECQL):c.918G>T (p.Lys306Asn)
NM_002907.4(RECQL):c.919C>G (p.Leu307Val) rs746041500
NM_002907.4(RECQL):c.919C>T (p.Leu307Phe)
NM_002907.4(RECQL):c.91A>G (p.Arg31Gly)
NM_002907.4(RECQL):c.922_923dup (p.Asn309fs)
NM_002907.4(RECQL):c.923T>C (p.Ile308Thr)
NM_002907.4(RECQL):c.927T>A (p.Asn309Lys)
NM_002907.4(RECQL):c.932G>T (p.Arg311Ile)
NM_002907.4(RECQL):c.933A>C (p.Arg311Ser)
NM_002907.4(RECQL):c.933A>T (p.Arg311Ser) rs1565565568
NM_002907.4(RECQL):c.934T>C (p.Tyr312His)
NM_002907.4(RECQL):c.939A>C (p.Lys313Asn)
NM_002907.4(RECQL):c.940G>A (p.Gly314Arg)
NM_002907.4(RECQL):c.943C>A (p.Gln315Lys)
NM_002907.4(RECQL):c.955A>G (p.Ile319Val)
NM_002907.4(RECQL):c.957A>G (p.Ile319Met)
NM_002907.4(RECQL):c.959A>G (p.Tyr320Cys)
NM_002907.4(RECQL):c.959_960del (p.Tyr320fs)
NM_002907.4(RECQL):c.95A>C (p.Gln32Pro)
NM_002907.4(RECQL):c.962_965del (p.Cys321fs) rs768075076
NM_002907.4(RECQL):c.970C>T (p.Gln324Ter)
NM_002907.4(RECQL):c.977A>T (p.Asp326Val)
NM_002907.4(RECQL):c.980C>T (p.Ser327Phe)
NM_002907.4(RECQL):c.980_981del (p.Asp326_Ser327insTer) rs1943075507
NM_002907.4(RECQL):c.985C>A (p.Gln329Lys)
NM_002907.4(RECQL):c.988G>C (p.Val330Leu)
NM_002907.4(RECQL):c.989T>C (p.Val330Ala)
NM_002907.4(RECQL):c.992C>T (p.Thr331Met) rs755679996
NM_002907.4(RECQL):c.993_996dup (p.Ser333delinsGlyTer)
NM_002907.4(RECQL):c.998G>C (p.Ser333Thr) rs2137340490
NM_002907.4(RECQL):c.99del (p.Glu34fs)

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