ClinVar Miner

List of variants studied for Rothmund-Thomson syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_022662.4(ANAPC1):c.5373C>A (p.Ile1791=) rs939797 0.99776
NM_022662.4(ANAPC1):c.1651-23A>G rs4848800 0.99624
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_022662.4(ANAPC1):c.1791G>A (p.Leu597=) rs4848197 0.57441
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_022662.4(ANAPC1):c.*2C>T rs1044864 0.17605
NM_022662.4(ANAPC1):c.4341G>A (p.Pro1447=) rs56780932 0.16173
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met) rs147457004 0.00824
NM_022662.4(ANAPC1):c.681T>C (p.Ser227=) rs145229082 0.00632
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_022662.4(ANAPC1):c.3100G>A (p.Val1034Met) rs548028803 0.00192
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.1160G>T (p.Gly387Val) rs369815468 0.00046
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys) rs1035057882 0.00042
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) rs979012066 0.00033
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.1779C>T (p.Ala593=) rs369939552 0.00026
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) rs34633809 0.00023
NM_004260.4(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met) rs201661055 0.00019
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_004260.4(RECQL4):c.1581G>A (p.Thr527=) rs367559988 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004260.4(RECQL4):c.2503G>A (p.Asp835Asn) rs373187237 0.00016
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.492G>A (p.Glu164=) rs368335924 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys) rs202134651 0.00011
NM_004260.4(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591 0.00010
NM_004260.4(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657 0.00009
NM_004260.4(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498 0.00009
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00009
NM_004260.4(RECQL4):c.2837G>A (p.Arg946His) rs773154902 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) rs200382712 0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105 0.00008
NM_004260.4(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658 0.00008
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300 0.00007
NM_004260.4(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466 0.00007
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409 0.00006
NM_004260.4(RECQL4):c.1892G>A (p.Arg631His) rs771179943 0.00006
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102 0.00006
NM_004260.4(RECQL4):c.444C>T (p.Val148=) rs559167672 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala) rs370912793 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004260.4(RECQL4):c.2650del (p.Gln884fs) rs1203766600 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_004260.4(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951 0.00004
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803 0.00004
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.2129G>A (p.Arg710His) rs781121286 0.00004
NM_004260.4(RECQL4):c.2264G>A (p.Arg755Gln) rs747445357 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072 0.00004
NM_004260.4(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521 0.00004
NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro) rs774274636 0.00004
NM_004260.4(RECQL4):c.2799C>T (p.His933=) rs769613313 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660 0.00004
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) rs765087683 0.00004
NM_004260.4(RECQL4):c.504G>A (p.Arg168=) rs750760763 0.00004
NM_004260.4(RECQL4):c.1755G>T (p.Val585=) rs539370260 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.3509C>T (p.Pro1170Leu) rs772265082 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178 0.00003
NM_004260.4(RECQL4):c.425C>T (p.Pro142Leu) rs370312522 0.00003
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) rs746487281 0.00003
NM_004260.4(RECQL4):c.864G>A (p.Gly288=) rs1182438148 0.00003
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.1953C>T (p.Asp651=) rs778308001 0.00002
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2463+3T>C rs538535710 0.00002
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3393+2T>G rs557284122 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.447C>T (p.Pro149=) rs377485079 0.00002
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) rs753361853 0.00002
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) rs776532961 0.00002
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) rs892796827 0.00002
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398 0.00001
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.1391-3C>T rs772931084 0.00001
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys) rs1370043767 0.00001
NM_004260.4(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149 0.00001
NM_004260.4(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His) rs752847936 0.00001
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) rs780200030 0.00001
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) rs1416975304 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) rs368160871 0.00001
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu) rs773579080 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.556C>T (p.Leu186=) rs1171892293 0.00001
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) rs745571670 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301 0.00001
NM_022662.4(ANAPC1):c.4373+1G>A rs1267333057 0.00001
GRCh37/hg19 2p21(chr2:46844284-46844565)
NC_000002.11:g.(?_46844310)_(46844438_46845911)del
NC_000010.11:g.68413754_68420303del
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)
NM_001080449.3(DNA2):c.2208+2456_2403-18del
NM_001080449.3(DNA2):c.442-768_587+648del
NM_001080449.3(DNA2):c.588-2214A>G
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1131+9G>A rs373765596
NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn) rs1348040384
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) rs1564804479
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln) rs548957135
NM_004260.4(RECQL4):c.1258G>C (p.Ala420Pro) rs2130711913
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1390+1G>T rs1085307090
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) rs767337200
NM_004260.4(RECQL4):c.1483+27_1483+37del
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-1G>T rs386833849
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) rs531970883
NM_004260.4(RECQL4):c.2087G>C (p.Arg696Pro) rs1026729951
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.221_222del (p.Glu74fs) rs773325186
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) rs748416710
NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp) rs1586802958
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs) rs1554898257
NM_004260.4(RECQL4):c.2339G>A (p.Arg780Gln) rs369488194
NM_004260.4(RECQL4):c.2364T>G (p.His788Gln) rs1410031368
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.4(RECQL4):c.2414_2422del (p.Ala805_Arg807del)
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) rs1423500226
NM_004260.4(RECQL4):c.2428C>T (p.Gln810Ter)
NM_004260.4(RECQL4):c.2463+5G>A rs1264630646
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg) rs774274636
NM_004260.4(RECQL4):c.291C>A (p.Ser97Arg) rs762806249
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) rs200629599
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3084G>A (p.Val1028=) rs1827393391
NM_004260.4(RECQL4):c.312C>G (p.Asp104Glu)
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) rs1554896308
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.4(RECQL4):c.3338G>C (p.Gly1113Ala)
NM_004260.4(RECQL4):c.3393+7G>A
NM_004260.4(RECQL4):c.3394-4A>G rs777542762
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) rs1564787405
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.4(RECQL4):c.359_374delGACCAGCCCTGGGCCG rs1554903709
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) rs565903685
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs) rs1586824938
NM_004260.4(RECQL4):c.757C>T (p.Gln253Ter)
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434
NM_004260.4(RECQL4):c.[1724_1725del;691G>A]
NM_014171.5(CRIPT):c.-422_17-582del
NM_014171.6(CRIPT):c.132del (p.Ala45fs) rs771238795
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_014171.6(CRIPT):c.191C>T (p.Ser64Phe)
NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr)
NM_014171.6(CRIPT):c.242-19A>T rs866376607
NM_014171.6(CRIPT):c.7_8del (p.Cys3fs)
NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)
NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs) rs1573454278
NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)
NM_022662.4(ANAPC1):c.685+25A>G rs6742515
NM_022662.4(ANAPC1):c.[1778dup;2705-198C>T]
NM_022662.4(ANAPC1):c.[2705-198C>T;4373+1G>A]
NM_022662.4(ANAPC1):c.[2705-198C>T;4880_4881AC[1]]
XM_011517384.2:c.1149G>A
XM_017013997.1:c.3095T>A

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