ClinVar Miner

List of variants in gene RECQL4 reported as uncertain significance for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2504
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
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.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.3055+5G>A rs377031190 0.00038
NM_004260.4(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224 0.00035
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
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.2149G>A (p.Ala717Thr) rs970075256 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.3013C>T (p.Arg1005Trp) rs368982201 0.00022
NM_004260.4(RECQL4):c.944C>T (p.Ser315Leu) rs376493359 0.00021
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.3521C>T (p.Ala1174Val) rs587778648 0.00018
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.2285A>G (p.Gln762Arg) rs543333975 0.00015
NM_004260.4(RECQL4):c.2907C>G (p.Cys969Trp) rs772780752 0.00015
NM_004260.4(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784 0.00014
NM_004260.4(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013 0.00014
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2261G>A (p.Arg754Gln) rs190061994 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile) rs374225917 0.00013
NM_004260.4(RECQL4):c.1645A>C (p.Lys549Gln) rs542466006 0.00012
NM_004260.4(RECQL4):c.2143C>T (p.Arg715Trp) rs373292946 0.00011
NM_004260.4(RECQL4):c.230G>A (p.Cys77Tyr) rs373705170 0.00011
NM_004260.4(RECQL4):c.3394-9T>G rs746656592 0.00011
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.3119C>A (p.Pro1040Gln) rs370867731 0.00010
NM_004260.4(RECQL4):c.3185G>A (p.Arg1062Gln) rs558058260 0.00010
NM_004260.4(RECQL4):c.380C>T (p.Pro127Leu) rs550470182 0.00010
NM_004260.4(RECQL4):c.1165T>C (p.Cys389Arg) rs551814194 0.00009
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=) rs773682937 0.00009
NM_004260.4(RECQL4):c.1720G>A (p.Val574Ile) rs368983561 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.3154T>A (p.Cys1052Ser) rs573929442 0.00009
NM_004260.4(RECQL4):c.358G>C (p.Gly120Arg) rs571635676 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.392G>A (p.Gly131Glu) rs542844885 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_004260.4(RECQL4):c.1040G>A (p.Arg347His) rs757988816 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.1981G>A (p.Glu661Lys) rs775332504 0.00008
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.2153C>T (p.Ala718Val) rs769675968 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.3431G>A (p.Arg1144His) rs746892308 0.00008
NM_004260.4(RECQL4):c.1900G>A (p.Val634Met) rs747895651 0.00007
NM_004260.4(RECQL4):c.2224G>A (p.Glu742Lys) rs377026680 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.2434G>A (p.Ala812Thr) rs372372052 0.00007
NM_004260.4(RECQL4):c.3419G>A (p.Arg1140His) rs767822615 0.00007
NM_004260.4(RECQL4):c.3512G>A (p.Cys1171Tyr) rs748529710 0.00007
NM_004260.4(RECQL4):c.647A>G (p.Glu216Gly) rs531780795 0.00007
NM_004260.4(RECQL4):c.1043A>G (p.His348Arg) rs201763704 0.00006
NM_004260.4(RECQL4):c.1207T>C (p.Cys403Arg) rs754788578 0.00006
NM_004260.4(RECQL4):c.1253G>C (p.Arg418Pro) rs548957135 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.2200+4C>T rs776670526 0.00006
NM_004260.4(RECQL4):c.2200+5G>A rs770855894 0.00006
NM_004260.4(RECQL4):c.2273G>A (p.Arg758Gln) rs748416710 0.00006
NM_004260.4(RECQL4):c.2299G>A (p.Val767Met) rs775137905 0.00006
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467 0.00006
NM_004260.4(RECQL4):c.2485C>T (p.Arg829Cys) rs1470516114 0.00006
NM_004260.4(RECQL4):c.2687T>C (p.Val896Ala) rs373763805 0.00006
NM_004260.4(RECQL4):c.3065G>A (p.Arg1022His) rs560476442 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.3361G>A (p.Asp1121Asn) rs377390897 0.00006
NM_004260.4(RECQL4):c.3502G>A (p.Gly1168Arg) rs781543298 0.00006
NM_004260.4(RECQL4):c.742C>T (p.Arg248Cys) rs540719285 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.961G>A (p.Gly321Arg) rs748212145 0.00006
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.1826G>A (p.Cys609Tyr) rs939040910 0.00005
NM_004260.4(RECQL4):c.1871T>C (p.Val624Ala) rs370912793 0.00005
NM_004260.4(RECQL4):c.2058+6T>C rs759290373 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.2176G>A (p.Ala726Thr) rs766748490 0.00005
NM_004260.4(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706 0.00005
NM_004260.4(RECQL4):c.3011G>A (p.Arg1004Gln) rs750261857 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004260.4(RECQL4):c.3515A>G (p.Tyr1172Cys) rs779070043 0.00005
NM_004260.4(RECQL4):c.3544C>T (p.Arg1182Cys) rs376981214 0.00005
NM_004260.4(RECQL4):c.386C>T (p.Pro129Leu) rs370624395 0.00005
NM_004260.4(RECQL4):c.455C>T (p.Ala152Val) rs774699880 0.00005
NM_004260.4(RECQL4):c.778G>A (p.Glu260Lys) rs370919817 0.00005
NM_004260.4(RECQL4):c.1030C>T (p.Arg344Trp) rs768850000 0.00004
NM_004260.4(RECQL4):c.1031G>A (p.Arg344Gln) rs745874353 0.00004
NM_004260.4(RECQL4):c.1060G>A (p.Val354Ile) rs551940973 0.00004
NM_004260.4(RECQL4):c.1109G>A (p.Arg370His) rs377494266 0.00004
NM_004260.4(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231 0.00004
NM_004260.4(RECQL4):c.1288C>T (p.Pro430Ser) rs773561522 0.00004
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.1942A>G (p.Thr648Ala) rs1395849719 0.00004
NM_004260.4(RECQL4):c.2058+5G>A rs1041802349 0.00004
NM_004260.4(RECQL4):c.2107A>G (p.Ile703Val) rs770227800 0.00004
NM_004260.4(RECQL4):c.2125C>T (p.Arg709Trp) rs199562131 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.2281A>G (p.Met761Val) rs941552175 0.00004
NM_004260.4(RECQL4):c.2329G>T (p.Gly777Trp) rs377173936 0.00004
NM_004260.4(RECQL4):c.2338C>T (p.Arg780Trp) rs372741479 0.00004
NM_004260.4(RECQL4):c.2525T>C (p.Val842Ala) rs749829542 0.00004
NM_004260.4(RECQL4):c.2653C>T (p.Leu885Phe) rs367559549 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.2816C>T (p.Ala939Val) rs561220929 0.00004
NM_004260.4(RECQL4):c.2836C>T (p.Arg946Cys) rs763161407 0.00004
NM_004260.4(RECQL4):c.2894C>T (p.Pro965Leu) rs766038992 0.00004
NM_004260.4(RECQL4):c.3218C>T (p.Thr1073Ile) rs775225569 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.3418C>T (p.Arg1140Cys) rs375432640 0.00004
NM_004260.4(RECQL4):c.3429C>G (p.Ile1143Met) rs529113837 0.00004
NM_004260.4(RECQL4):c.347C>T (p.Thr116Ile) rs565419066 0.00004
NM_004260.4(RECQL4):c.354G>A (p.Gln118=) rs544163984 0.00004
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp) rs758010588 0.00004
NM_004260.4(RECQL4):c.544C>T (p.Arg182Trp) rs750986351 0.00004
NM_004260.4(RECQL4):c.551G>A (p.Gly184Asp) rs369118443 0.00004
NM_004260.4(RECQL4):c.709C>G (p.Pro237Ala) rs370391716 0.00004
NM_004260.4(RECQL4):c.732A>C (p.Glu244Asp) rs750451940 0.00004
NM_004260.4(RECQL4):c.784C>T (p.Arg262Trp) rs781314533 0.00004
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677 0.00003
NM_004260.4(RECQL4):c.1228G>C (p.Asp410His) rs558779399 0.00003
NM_004260.4(RECQL4):c.1252C>T (p.Arg418Trp) rs369670064 0.00003
NM_004260.4(RECQL4):c.1295C>T (p.Pro432Leu) rs368160954 0.00003
NM_004260.4(RECQL4):c.1415C>T (p.Ala472Val) rs587778653 0.00003
NM_004260.4(RECQL4):c.1444C>T (p.Arg482Cys) rs573164516 0.00003
NM_004260.4(RECQL4):c.1517C>G (p.Ala506Gly) rs1237298928 0.00003
NM_004260.4(RECQL4):c.1628G>T (p.Gly543Val) rs530780933 0.00003
NM_004260.4(RECQL4):c.1667G>A (p.Gly556Asp) rs575020739 0.00003
NM_004260.4(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.1939C>T (p.Arg647Cys) rs775127620 0.00003
NM_004260.4(RECQL4):c.1940G>T (p.Arg647Leu) rs372664774 0.00003
NM_004260.4(RECQL4):c.2054A>G (p.Asp685Gly) rs985330329 0.00003
NM_004260.4(RECQL4):c.2113A>G (p.Ile705Val) rs374262706 0.00003
NM_004260.4(RECQL4):c.2203C>T (p.Arg735Cys) rs760748569 0.00003
NM_004260.4(RECQL4):c.2242A>T (p.Met748Leu) rs370755504 0.00003
NM_004260.4(RECQL4):c.2244G>A (p.Met748Ile) rs767427869 0.00003
NM_004260.4(RECQL4):c.2275G>A (p.Ala759Thr) rs1198791067 0.00003
NM_004260.4(RECQL4):c.2307_2309dup (p.Ala770dup) rs748979321 0.00003
NM_004260.4(RECQL4):c.2506A>G (p.Ser836Gly) rs776668549 0.00003
NM_004260.4(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323 0.00003
NM_004260.4(RECQL4):c.2596G>A (p.Gly866Arg) rs778081949 0.00003
NM_004260.4(RECQL4):c.2605G>A (p.Gly869Ser) rs750282072 0.00003
NM_004260.4(RECQL4):c.2692A>G (p.Met898Val) rs776189878 0.00003
NM_004260.4(RECQL4):c.2754G>A (p.Glu918=) rs1060501377 0.00003
NM_004260.4(RECQL4):c.278C>T (p.Thr93Met) rs754149435 0.00003
NM_004260.4(RECQL4):c.2855G>A (p.Gly952Asp) rs776281689 0.00003
NM_004260.4(RECQL4):c.2929G>A (p.Asp977Asn) rs780492921 0.00003
NM_004260.4(RECQL4):c.293G>C (p.Arg98Pro) rs769634470 0.00003
NM_004260.4(RECQL4):c.2987T>C (p.Met996Thr) rs771326102 0.00003
NM_004260.4(RECQL4):c.3163C>T (p.Leu1055Phe) rs769823922 0.00003
NM_004260.4(RECQL4):c.3205C>T (p.Arg1069Cys) rs758648484 0.00003
NM_004260.4(RECQL4):c.3212G>A (p.Arg1071His) rs773856131 0.00003
NM_004260.4(RECQL4):c.3238G>A (p.Val1080Ile) rs760241032 0.00003
NM_004260.4(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646 0.00003
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.3316C>T (p.Arg1106Cys) rs770193726 0.00003
NM_004260.4(RECQL4):c.345C>T (p.Gly115=) rs377027093 0.00003
NM_004260.4(RECQL4):c.3485G>A (p.Arg1162His) rs747815189 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.361C>G (p.Pro121Ala) rs756069461 0.00003
NM_004260.4(RECQL4):c.3623G>A (p.Arg1208His) rs563816306 0.00003
NM_004260.4(RECQL4):c.391G>C (p.Gly131Arg) rs561427528 0.00003
NM_004260.4(RECQL4):c.425C>T (p.Pro142Leu) rs370312522 0.00003
NM_004260.4(RECQL4):c.511C>T (p.Arg171Trp) rs775651175 0.00003
NM_004260.4(RECQL4):c.599A>G (p.Asp200Gly) rs755687763 0.00003
NM_004260.4(RECQL4):c.655C>T (p.Leu219Phe) rs756820839 0.00003
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) rs746487281 0.00003
NM_004260.4(RECQL4):c.796G>A (p.Glu266Lys) rs543009701 0.00003
NM_004260.4(RECQL4):c.886G>A (p.Glu296Lys) rs1024635326 0.00003
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu) rs1220650736 0.00003
NM_004260.4(RECQL4):c.970C>T (p.Pro324Ser) rs781105713 0.00003
NM_004260.4(RECQL4):c.1024T>C (p.Phe342Leu) rs772388357 0.00002
NM_004260.4(RECQL4):c.1048A>G (p.Arg350Gly) rs878854639 0.00002
NM_004260.4(RECQL4):c.1070A>G (p.Asn357Ser) rs771851520 0.00002
NM_004260.4(RECQL4):c.1073T>C (p.Met358Thr) rs376652305 0.00002
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His) rs398124115 0.00002
NM_004260.4(RECQL4):c.1131+5G>A rs758482986 0.00002
NM_004260.4(RECQL4):c.1144A>G (p.Lys382Glu) rs758161368 0.00002
NM_004260.4(RECQL4):c.1146G>T (p.Lys382Asn) rs759321310 0.00002
NM_004260.4(RECQL4):c.1369G>T (p.Gly457Trp) rs750720279 0.00002
NM_004260.4(RECQL4):c.1394C>T (p.Thr465Met) rs899474226 0.00002
NM_004260.4(RECQL4):c.1406T>C (p.Val469Ala) rs529104564 0.00002
NM_004260.4(RECQL4):c.1445G>A (p.Arg482His) rs751616549 0.00002
NM_004260.4(RECQL4):c.1456G>C (p.Glu486Gln) rs768311526 0.00002
NM_004260.4(RECQL4):c.1459C>T (p.Arg487Cys) rs762386238 0.00002
NM_004260.4(RECQL4):c.1460G>A (p.Arg487His) rs775200679 0.00002
NM_004260.4(RECQL4):c.1471C>T (p.Arg491Trp) rs746417965 0.00002
NM_004260.4(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889 0.00002
NM_004260.4(RECQL4):c.1483+3G>A rs771224692 0.00002
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1493C>T (p.Thr498Met) rs376587038 0.00002
NM_004260.4(RECQL4):c.1519G>A (p.Gly507Ser) rs587778655 0.00002
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374 0.00002
NM_004260.4(RECQL4):c.1659A>G (p.Ile553Met) rs1034720495 0.00002
NM_004260.4(RECQL4):c.1664C>T (p.Ser555Leu) rs755425093 0.00002
NM_004260.4(RECQL4):c.1726G>A (p.Val576Met) rs570331496 0.00002
NM_004260.4(RECQL4):c.1735C>G (p.Leu579Val) rs552226907 0.00002
NM_004260.4(RECQL4):c.1780G>A (p.Ala594Thr) rs376364416 0.00002
NM_004260.4(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188 0.00002
NM_004260.4(RECQL4):c.1930G>A (p.Ala644Thr) rs774323224 0.00002
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys) rs398124116 0.00002
NM_004260.4(RECQL4):c.1969G>A (p.Ala657Thr) rs993147176 0.00002
NM_004260.4(RECQL4):c.1972G>A (p.Val658Met) rs373608888 0.00002
NM_004260.4(RECQL4):c.1996G>A (p.Gly666Arg) rs776218553 0.00002
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.2080G>C (p.Gly694Arg) rs750118023 0.00002
NM_004260.4(RECQL4):c.2087G>A (p.Arg696His) rs1026729951 0.00002
NM_004260.4(RECQL4):c.2128C>T (p.Arg710Cys) rs750126506 0.00002
NM_004260.4(RECQL4):c.2162G>A (p.Arg721Gln) rs558451720 0.00002
NM_004260.4(RECQL4):c.2174A>T (p.His725Leu) rs755481980 0.00002
NM_004260.4(RECQL4):c.2200+3G>A rs1436956816 0.00002
NM_004260.4(RECQL4):c.2207C>G (p.Ala736Gly) rs771790911 0.00002
NM_004260.4(RECQL4):c.221A>G (p.Glu74Gly) rs759778382 0.00002
NM_004260.4(RECQL4):c.2303T>C (p.Val768Ala) rs370863264 0.00002
NM_004260.4(RECQL4):c.2350C>T (p.Arg784Trp) rs753386714 0.00002
NM_004260.4(RECQL4):c.2404G>A (p.Val802Met) rs897118164 0.00002
NM_004260.4(RECQL4):c.2411G>A (p.Arg804Gln) rs1060501375 0.00002
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg) rs767102398 0.00002
NM_004260.4(RECQL4):c.2463+3T>C rs538535710 0.00002
NM_004260.4(RECQL4):c.2463+4G>A rs1449275619 0.00002
NM_004260.4(RECQL4):c.2470G>C (p.Asp824His) rs901313954 0.00002
NM_004260.4(RECQL4):c.2491C>T (p.His831Tyr) rs370432468 0.00002
NM_004260.4(RECQL4):c.251G>C (p.Arg84Pro) rs745596664 0.00002
NM_004260.4(RECQL4):c.2522C>T (p.Ala841Val) rs768110067 0.00002
NM_004260.4(RECQL4):c.2542C>T (p.Arg848Cys) rs757540549 0.00002
NM_004260.4(RECQL4):c.2558G>A (p.Cys853Tyr) rs998405899 0.00002
NM_004260.4(RECQL4):c.2665G>A (p.Ala889Thr) rs754977025 0.00002
NM_004260.4(RECQL4):c.2693T>C (p.Met898Thr) rs771630323 0.00002
NM_004260.4(RECQL4):c.2694G>C (p.Met898Ile) rs1382869672 0.00002
NM_004260.4(RECQL4):c.2735C>T (p.Ala912Val) rs752408076 0.00002
NM_004260.4(RECQL4):c.2749G>A (p.Glu917Lys) rs377343487 0.00002
NM_004260.4(RECQL4):c.2791C>T (p.Pro931Ser) rs768352855 0.00002
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser) rs1359100897 0.00002
NM_004260.4(RECQL4):c.2822C>G (p.Thr941Ser) rs1060501368 0.00002
NM_004260.4(RECQL4):c.2831A>G (p.His944Arg) rs759772792 0.00002
NM_004260.4(RECQL4):c.2849C>G (p.Pro950Arg) rs769664095 0.00002
NM_004260.4(RECQL4):c.2873C>T (p.Ala958Val) rs758952928 0.00002
NM_004260.4(RECQL4):c.2928G>C (p.Glu976Asp) rs1391709653 0.00002
NM_004260.4(RECQL4):c.2941G>A (p.Gly981Ser) rs757541591 0.00002
NM_004260.4(RECQL4):c.2966T>G (p.Met989Arg) rs767220757 0.00002
NM_004260.4(RECQL4):c.2973G>C (p.Lys991Asn) rs763547531 0.00002
NM_004260.4(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723 0.00002
NM_004260.4(RECQL4):c.3043G>A (p.Glu1015Lys) rs771381171 0.00002
NM_004260.4(RECQL4):c.311A>C (p.Asp104Ala) rs754123663 0.00002
NM_004260.4(RECQL4):c.3145G>A (p.Asp1049Asn) rs1176326208 0.00002
NM_004260.4(RECQL4):c.3268G>A (p.Glu1090Lys) rs756401653 0.00002
NM_004260.4(RECQL4):c.3271C>A (p.Gln1091Lys) rs137853230 0.00002
NM_004260.4(RECQL4):c.3290G>A (p.Ser1097Asn) rs1400903506 0.00002
NM_004260.4(RECQL4):c.3342G>C (p.Gln1114His) rs990831417 0.00002
NM_004260.4(RECQL4):c.335A>G (p.Asn112Ser) rs372651895 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.3484C>T (p.Arg1162Cys) rs773088003 0.00002
NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn) rs758188100 0.00002
NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter) rs748047415 0.00002
NM_004260.4(RECQL4):c.482A>G (p.Gln161Arg) rs1449551392 0.00002
NM_004260.4(RECQL4):c.508G>T (p.Gly170Cys) rs774750928 0.00002
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) rs753361853 0.00002
NM_004260.4(RECQL4):c.554C>T (p.Ser185Phe) rs751922746 0.00002
NM_004260.4(RECQL4):c.559G>A (p.Asp187Asn) rs775849340 0.00002
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) rs776532961 0.00002
NM_004260.4(RECQL4):c.785G>A (p.Arg262Gln) rs781569277 0.00002
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn) rs780327528 0.00002
NM_004260.4(RECQL4):c.857C>T (p.Ser286Leu) rs757320755 0.00002
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) rs892796827 0.00002
NM_004260.4(RECQL4):c.896C>T (p.Pro299Leu) rs1421975384 0.00002
NM_004260.4(RECQL4):c.919C>T (p.Pro307Ser) rs1338979565 0.00002
NM_004260.4(RECQL4):c.938G>C (p.Ser313Thr) rs762426271 0.00002
NM_004260.4(RECQL4):c.1007C>T (p.Thr336Ile) rs1470222070 0.00001
NM_004260.4(RECQL4):c.1009G>C (p.Ala337Pro) rs1171953080 0.00001
NM_004260.4(RECQL4):c.1012C>T (p.Pro338Ser) rs754299237 0.00001
NM_004260.4(RECQL4):c.1021A>G (p.Ile341Val) rs1022453211 0.00001
NM_004260.4(RECQL4):c.1027C>T (p.Pro343Ser) rs1379758021 0.00001
NM_004260.4(RECQL4):c.1036G>A (p.Ala346Thr) rs770798229 0.00001
NM_004260.4(RECQL4):c.1037C>T (p.Ala346Val) rs746740293 0.00001
NM_004260.4(RECQL4):c.1039C>T (p.Arg347Cys) rs534507419 0.00001
NM_004260.4(RECQL4):c.1045G>A (p.Asp349Asn) rs1045634487 0.00001
NM_004260.4(RECQL4):c.1046A>G (p.Asp349Gly) rs566907631 0.00001
NM_004260.4(RECQL4):c.1055A>G (p.Asn352Ser) rs761136493 0.00001
NM_004260.4(RECQL4):c.1066C>T (p.Leu356Phe) rs1293545938 0.00001
NM_004260.4(RECQL4):c.1072A>G (p.Met358Val) rs371503929 0.00001
NM_004260.4(RECQL4):c.1084C>T (p.His362Tyr) rs1186265538 0.00001
NM_004260.4(RECQL4):c.1085A>G (p.His362Arg) rs1016687510 0.00001
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_004260.4(RECQL4):c.1099C>T (p.Arg367Trp) rs531175632 0.00001
NM_004260.4(RECQL4):c.1105C>T (p.Leu369Phe) rs999036216 0.00001
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398 0.00001
NM_004260.4(RECQL4):c.1114A>G (p.Arg372Gly) rs1042662106 0.00001
NM_004260.4(RECQL4):c.1123C>T (p.Arg375Cys) rs746423729 0.00001
NM_004260.4(RECQL4):c.1127A>G (p.Lys376Arg) rs375459768 0.00001
NM_004260.4(RECQL4):c.1128G>C (p.Lys376Asn) rs764389677 0.00001
NM_004260.4(RECQL4):c.1129C>G (p.Gln377Glu) rs372521987 0.00001
NM_004260.4(RECQL4):c.1131G>A (p.Gln377=) rs911864123 0.00001
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp) rs766026341 0.00001
NM_004260.4(RECQL4):c.1171G>C (p.Gly391Arg) rs749556633 0.00001
NM_004260.4(RECQL4):c.1187C>T (p.Thr396Ile) rs752564961 0.00001
NM_004260.4(RECQL4):c.1199A>C (p.Lys400Thr) rs1489838661 0.00001
NM_004260.4(RECQL4):c.1208G>A (p.Cys403Tyr) rs753593981 0.00001
NM_004260.4(RECQL4):c.1214T>C (p.Leu405Pro) rs747571431 0.00001
NM_004260.4(RECQL4):c.1240G>T (p.Ala414Ser) rs1188265182 0.00001
NM_004260.4(RECQL4):c.1250C>T (p.Pro417Leu) rs1258987986 0.00001
NM_004260.4(RECQL4):c.1258+3G>A rs748155891 0.00001
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.1292A>G (p.Glu431Gly) rs1342271031 0.00001
NM_004260.4(RECQL4):c.1300G>T (p.Val434Phe) rs761938967 0.00001
NM_004260.4(RECQL4):c.1303C>T (p.Pro435Ser) rs769553486 0.00001
NM_004260.4(RECQL4):c.1315C>T (p.Pro439Ser) rs776349086 0.00001
NM_004260.4(RECQL4):c.1318G>A (p.Val440Ile) rs770710973 0.00001
NM_004260.4(RECQL4):c.1372C>T (p.Pro458Ser) rs761992231 0.00001
NM_004260.4(RECQL4):c.1376C>T (p.Ser459Leu) rs774240479 0.00001
NM_004260.4(RECQL4):c.1381C>A (p.Gln461Lys) rs1465965797 0.00001
NM_004260.4(RECQL4):c.1383G>T (p.Gln461His) rs1395093722 0.00001
NM_004260.4(RECQL4):c.1387G>A (p.Ala463Thr) rs776602501 0.00001
NM_004260.4(RECQL4):c.1390+6C>A rs770762372 0.00001
NM_004260.4(RECQL4):c.1391-3C>T rs772931084 0.00001
NM_004260.4(RECQL4):c.1412A>G (p.Gln471Arg) rs1162234134 0.00001
NM_004260.4(RECQL4):c.1432C>T (p.His478Tyr) rs750354218 0.00001
NM_004260.4(RECQL4):c.1462G>A (p.Ala488Thr) rs925075047 0.00001
NM_004260.4(RECQL4):c.1483+6C>T rs376137809 0.00001
NM_004260.4(RECQL4):c.1487T>C (p.Ile496Thr) rs772318434 0.00001
NM_004260.4(RECQL4):c.1501G>A (p.Val501Met) rs1016151338 0.00001
NM_004260.4(RECQL4):c.1511C>T (p.Thr504Ile) rs183852597 0.00001
NM_004260.4(RECQL4):c.1513G>A (p.Gly505Ser) rs1586815330 0.00001
NM_004260.4(RECQL4):c.1521C>T (p.Gly507=) rs763993982 0.00001
NM_004260.4(RECQL4):c.1532G>A (p.Cys511Tyr) rs1060501361 0.00001
NM_004260.4(RECQL4):c.1538A>G (p.Gln513Arg) rs759124032 0.00001
NM_004260.4(RECQL4):c.1543C>T (p.Pro515Ser) rs761310564 0.00001
NM_004260.4(RECQL4):c.1552C>T (p.Leu518Phe) rs568597345 0.00001
NM_004260.4(RECQL4):c.1562G>A (p.Arg521Gln) rs747019774 0.00001
NM_004260.4(RECQL4):c.1579A>G (p.Thr527Ala) rs760080894 0.00001
NM_004260.4(RECQL4):c.1580C>G (p.Thr527Arg) rs766354337 0.00001
NM_004260.4(RECQL4):c.1585G>C (p.Val529Leu) rs1459761249 0.00001
NM_004260.4(RECQL4):c.1592C>T (p.Ser531Phe) rs774637277 0.00001
NM_004260.4(RECQL4):c.1598T>A (p.Leu533Gln) rs986491410 0.00001
NM_004260.4(RECQL4):c.1606C>T (p.Leu536Phe) rs1370366623 0.00001
NM_004260.4(RECQL4):c.1609A>G (p.Met537Val) rs748083596 0.00001
NM_004260.4(RECQL4):c.1652C>T (p.Ala551Val) rs587778643 0.00001
NM_004260.4(RECQL4):c.1661A>G (p.His554Arg) rs779426316 0.00001
NM_004260.4(RECQL4):c.1669A>G (p.Met557Val) rs1270237157 0.00001
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys) rs1370043767 0.00001
NM_004260.4(RECQL4):c.1704+3G>C rs1210896009 0.00001
NM_004260.4(RECQL4):c.1704G>A (p.Lys568=) rs878854642 0.00001
NM_004260.4(RECQL4):c.1709G>A (p.Arg570Gln) rs755865911 0.00001
NM_004260.4(RECQL4):c.1741C>A (p.Pro581Thr) rs776147492 0.00001
NM_004260.4(RECQL4):c.1754T>G (p.Val585Gly) rs927576418 0.00001
NM_004260.4(RECQL4):c.1756G>A (p.Gly586Arg) rs878854643 0.00001
NM_004260.4(RECQL4):c.1757G>A (p.Gly586Glu) rs1060501369 0.00001
NM_004260.4(RECQL4):c.1760C>T (p.Ala587Val) rs747307935 0.00001
NM_004260.4(RECQL4):c.1762G>A (p.Gly588Arg) rs1476505217 0.00001
NM_004260.4(RECQL4):c.1763G>T (p.Gly588Val) rs1259051495 0.00001
NM_004260.4(RECQL4):c.1774C>T (p.Pro592Ser) rs1235051312 0.00001
NM_004260.4(RECQL4):c.1781C>T (p.Ala594Val) rs763773600 0.00001
NM_004260.4(RECQL4):c.1784A>C (p.Gln595Pro) rs762566552 0.00001
NM_004260.4(RECQL4):c.1805C>T (p.Ala602Val) rs773424120 0.00001
NM_004260.4(RECQL4):c.1810A>G (p.Ile604Val) rs1467801930 0.00001
NM_004260.4(RECQL4):c.1820C>T (p.Ala607Val) rs1479605538 0.00001
NM_004260.4(RECQL4):c.1822C>T (p.His608Tyr) rs375033380 0.00001
NM_004260.4(RECQL4):c.1828C>T (p.Leu610Phe) rs751453635 0.00001
NM_004260.4(RECQL4):c.1832C>G (p.Ser611Cys) rs766282231 0.00001
NM_004260.4(RECQL4):c.1837T>C (p.Trp613Arg) rs1394819507 0.00001
NM_004260.4(RECQL4):c.1841C>T (p.Ser614Phe) rs1462959391 0.00001
NM_004260.4(RECQL4):c.1843C>A (p.His615Asn) rs1355971313 0.00001
NM_004260.4(RECQL4):c.1858T>G (p.Cys620Gly) rs762061985 0.00001
NM_004260.4(RECQL4):c.1859G>A (p.Cys620Tyr) rs1481613413 0.00001
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr) rs747827741 0.00001
NM_004260.4(RECQL4):c.1878G>A (p.Lys626=) rs1433507669 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.1891C>T (p.Arg631Cys) rs748941688 0.00001
NM_004260.4(RECQL4):c.1894A>G (p.Met632Val) rs745309255 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.1918C>T (p.Leu640Phe) rs766559898 0.00001
NM_004260.4(RECQL4):c.1922C>A (p.Thr641Lys) rs867428284 0.00001
NM_004260.4(RECQL4):c.1925C>G (p.Ala642Gly) rs1338105623 0.00001
NM_004260.4(RECQL4):c.1928C>G (p.Thr643Arg) rs1285078612 0.00001
NM_004260.4(RECQL4):c.1937G>A (p.Arg646His) rs762767243 0.00001
NM_004260.4(RECQL4):c.1945G>A (p.Ala649Thr) rs1035779304 0.00001
NM_004260.4(RECQL4):c.1946C>G (p.Ala649Gly) rs1451532258 0.00001
NM_004260.4(RECQL4):c.1949G>A (p.Ser650Asn) rs747496472 0.00001
NM_004260.4(RECQL4):c.194T>C (p.Leu65Pro) rs1288667600 0.00001
NM_004260.4(RECQL4):c.1950T>G (p.Ser650Arg) rs1322122107 0.00001
NM_004260.4(RECQL4):c.1961A>G (p.Gln654Arg) rs534627012 0.00001
NM_004260.4(RECQL4):c.1970C>T (p.Ala657Val) rs1279119304 0.00001
NM_004260.4(RECQL4):c.1976C>G (p.Ala659Gly) rs1336325647 0.00001
NM_004260.4(RECQL4):c.1978G>A (p.Glu660Lys) rs1035926081 0.00001
NM_004260.4(RECQL4):c.1979A>G (p.Glu660Gly) rs762667669 0.00001
NM_004260.4(RECQL4):c.1993C>T (p.His665Tyr) rs369674791 0.00001
NM_004260.4(RECQL4):c.2005C>G (p.Pro669Ala) rs888214723 0.00001
NM_004260.4(RECQL4):c.2008G>A (p.Val670Ile) rs1484366007 0.00001
NM_004260.4(RECQL4):c.2012C>T (p.Pro671Leu) rs889029109 0.00001
NM_004260.4(RECQL4):c.2025C>G (p.His675Gln) rs779458343 0.00001
NM_004260.4(RECQL4):c.2026C>T (p.Leu676Phe) rs1412869186 0.00001
NM_004260.4(RECQL4):c.2030C>G (p.Ser677Cys) rs1340252869 0.00001
NM_004260.4(RECQL4):c.2032G>A (p.Val678Met) rs780282337 0.00001
NM_004260.4(RECQL4):c.2036C>T (p.Ser679Phe) rs750457453 0.00001
NM_004260.4(RECQL4):c.2038A>G (p.Met680Val) rs1040931249 0.00001
NM_004260.4(RECQL4):c.2051C>T (p.Thr684Ile) rs911017899 0.00001
NM_004260.4(RECQL4):c.2053G>A (p.Asp685Asn) rs765039635 0.00001
NM_004260.4(RECQL4):c.2058+4G>T rs369280644 0.00001
NM_004260.4(RECQL4):c.2059G>A (p.Ala687Thr) rs1023524924 0.00001
NM_004260.4(RECQL4):c.2060C>T (p.Ala687Val) rs1204590426 0.00001
NM_004260.4(RECQL4):c.2067G>C (p.Leu689Phe) rs1342995001 0.00001
NM_004260.4(RECQL4):c.2101G>A (p.Asp701Asn) rs1182814326 0.00001
NM_004260.4(RECQL4):c.2114T>C (p.Ile705Thr) rs1060501372 0.00001
NM_004260.4(RECQL4):c.2119T>C (p.Cys707Arg) rs1410988413 0.00001
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr) rs1351785836 0.00001
NM_004260.4(RECQL4):c.2126G>A (p.Arg709Gln) rs947223466 0.00001
NM_004260.4(RECQL4):c.213+4C>T rs768769944 0.00001
NM_004260.4(RECQL4):c.2134G>A (p.Asp712Asn) rs753254336 0.00001
NM_004260.4(RECQL4):c.2141A>G (p.Glu714Gly) rs766703250 0.00001
NM_004260.4(RECQL4):c.2170C>G (p.Leu724Val) rs536831548 0.00001
NM_004260.4(RECQL4):c.2185G>A (p.Val729Ile) rs376141829 0.00001
NM_004260.4(RECQL4):c.2191G>A (p.Gly731Arg) rs1356416510 0.00001
NM_004260.4(RECQL4):c.2197G>A (p.Gly733Arg) rs1364066465 0.00001
NM_004260.4(RECQL4):c.2204G>A (p.Arg735His) rs773155492 0.00001
NM_004260.4(RECQL4):c.2209C>T (p.Pro737Ser) rs550529518 0.00001
NM_004260.4(RECQL4):c.220G>C (p.Glu74Gln) rs765583077 0.00001
NM_004260.4(RECQL4):c.2210C>T (p.Pro737Leu) rs773886849 0.00001
NM_004260.4(RECQL4):c.2227G>A (p.Ala743Thr) rs1763223517 0.00001
NM_004260.4(RECQL4):c.2233C>T (p.His745Tyr) rs747466614 0.00001
NM_004260.4(RECQL4):c.2257C>T (p.Arg753Trp) rs367570292 0.00001
NM_004260.4(RECQL4):c.2258G>A (p.Arg753Gln) rs540601452 0.00001
NM_004260.4(RECQL4):c.227G>A (p.Arg76His) rs771110626 0.00001
NM_004260.4(RECQL4):c.2283G>A (p.Met761Ile) rs1291088541 0.00001
NM_004260.4(RECQL4):c.2288G>A (p.Gly763Asp) rs1164917814 0.00001
NM_004260.4(RECQL4):c.2308G>A (p.Ala770Thr) rs759107465 0.00001
NM_004260.4(RECQL4):c.2312C>T (p.Thr771Met) rs770327474 0.00001
NM_004260.4(RECQL4):c.2314G>A (p.Val772Met) rs1343306408 0.00001
NM_004260.4(RECQL4):c.2328G>A (p.Met776Ile) rs1368178192 0.00001
NM_004260.4(RECQL4):c.2335G>A (p.Asp779Asn) rs780228802 0.00001
NM_004260.4(RECQL4):c.2347G>A (p.Val783Met) rs1483530082 0.00001
NM_004260.4(RECQL4):c.2375C>T (p.Pro792Leu) rs1471609431 0.00001
NM_004260.4(RECQL4):c.2407G>A (p.Gly803Ser) rs1827604830 0.00001
NM_004260.4(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598 0.00001
NM_004260.4(RECQL4):c.2414C>T (p.Ala805Val) rs765894032 0.00001
NM_004260.4(RECQL4):c.2419C>T (p.Arg807Cys) rs764549158 0.00001
NM_004260.4(RECQL4):c.2437C>T (p.His813Tyr) rs945709072 0.00001
NM_004260.4(RECQL4):c.2463G>A (p.Gln821=) rs1447984125 0.00001
NM_004260.4(RECQL4):c.2468_2476del (p.Glu823_Arg826delinsGly) rs1827568539 0.00001
NM_004260.4(RECQL4):c.2500G>A (p.Ala834Thr) rs767722327 0.00001
NM_004260.4(RECQL4):c.2510C>T (p.Thr837Met) rs149067160 0.00001
NM_004260.4(RECQL4):c.2513A>C (p.Asp838Ala) rs1317677692 0.00001
NM_004260.4(RECQL4):c.2524G>A (p.Val842Met) rs1292755928 0.00001
NM_004260.4(RECQL4):c.2531G>A (p.Arg844Lys) rs780474951 0.00001
NM_004260.4(RECQL4):c.2540A>G (p.Gln847Arg) rs1320033045 0.00001
NM_004260.4(RECQL4):c.2552C>T (p.Pro851Leu) rs760522191 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_004260.4(RECQL4):c.2555C>T (p.Ala852Val) rs539160096 0.00001
NM_004260.4(RECQL4):c.2560A>C (p.Thr854Pro) rs1167670319 0.00001
NM_004260.4(RECQL4):c.2563T>C (p.Cys855Arg) rs867982056 0.00001
NM_004260.4(RECQL4):c.2563T>G (p.Cys855Gly) rs867982056 0.00001
NM_004260.4(RECQL4):c.2565C>G (p.Cys855Trp) rs768163180 0.00001
NM_004260.4(RECQL4):c.2575A>G (p.Arg859Gly) rs1268491409 0.00001
NM_004260.4(RECQL4):c.2579C>T (p.Pro860Leu) rs774850992 0.00001
NM_004260.4(RECQL4):c.2582C>T (p.Pro861Leu) rs878854647 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2602G>A (p.Val868Met) rs369250614 0.00001
NM_004260.4(RECQL4):c.2617C>G (p.Pro873Ala) rs751230101 0.00001
NM_004260.4(RECQL4):c.2617C>T (p.Pro873Ser) rs751230101 0.00001
NM_004260.4(RECQL4):c.2618C>T (p.Pro873Leu) rs1158920004 0.00001
NM_004260.4(RECQL4):c.2624C>T (p.Pro875Leu) rs1249837985 0.00001
NM_004260.4(RECQL4):c.2632C>T (p.Pro878Ser) rs375036010 0.00001
NM_004260.4(RECQL4):c.264G>C (p.Lys88Asn) rs750999910 0.00001
NM_004260.4(RECQL4):c.2652G>C (p.Gln884His) rs778275815 0.00001
NM_004260.4(RECQL4):c.2668G>A (p.Ala890Thr) rs750381540 0.00001
NM_004260.4(RECQL4):c.2671C>T (p.Pro891Ser) rs757175211 0.00001
NM_004260.4(RECQL4):c.2674G>A (p.Gly892Arg) rs1407549287 0.00001
NM_004260.4(RECQL4):c.2677C>T (p.Pro893Ser) rs1264247879 0.00001
NM_004260.4(RECQL4):c.2686G>C (p.Val896Leu) rs762644049 0.00001
NM_004260.4(RECQL4):c.2690G>T (p.Cys897Phe) rs1393217982 0.00001
NM_004260.4(RECQL4):c.2699A>G (p.His900Arg) rs1827524156 0.00001
NM_004260.4(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404 0.00001
NM_004260.4(RECQL4):c.2713C>A (p.Pro905Thr) rs778939539 0.00001
NM_004260.4(RECQL4):c.2732A>G (p.Gln911Arg) rs770437224 0.00001
NM_004260.4(RECQL4):c.2755+3G>A rs932763075 0.00001
NM_004260.4(RECQL4):c.2755+6G>A rs1827505860 0.00001
NM_004260.4(RECQL4):c.2758A>G (p.Ile920Val) rs780723602 0.00001
NM_004260.4(RECQL4):c.2760C>A (p.Ile920=) rs752058642 0.00001
NM_004260.4(RECQL4):c.2763G>C (p.Glu921Asp) rs763244862 0.00001
NM_004260.4(RECQL4):c.2764A>G (p.Thr922Ala) rs1827489849 0.00001
NM_004260.4(RECQL4):c.2765C>T (p.Thr922Ile) rs753044583 0.00001
NM_004260.4(RECQL4):c.2773T>G (p.Cys925Gly) rs765510227 0.00001
NM_004260.4(RECQL4):c.2774G>A (p.Cys925Tyr) rs1358613276 0.00001
NM_004260.4(RECQL4):c.2830C>T (p.His944Tyr) rs527454830 0.00001
NM_004260.4(RECQL4):c.2831A>C (p.His944Pro) rs759772792 0.00001
NM_004260.4(RECQL4):c.2848C>T (p.Pro950Ser) rs775475361 0.00001
NM_004260.4(RECQL4):c.2879C>T (p.Ala960Val) rs373651108 0.00001
NM_004260.4(RECQL4):c.2885+3A>T rs756288212 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.2886-8G>A rs1827452946 0.00001
NM_004260.4(RECQL4):c.2890C>A (p.Pro964Thr) rs33972310 0.00001
NM_004260.4(RECQL4):c.2893C>T (p.Pro965Ser) rs1383809349 0.00001
NM_004260.4(RECQL4):c.2902G>A (p.Val968Met) rs1060501382 0.00001
NM_004260.4(RECQL4):c.2911G>A (p.Ala971Thr) rs1827445508 0.00001
NM_004260.4(RECQL4):c.2912C>T (p.Ala971Val) rs1202372780 0.00001
NM_004260.4(RECQL4):c.2932C>T (p.Pro978Ser) rs770014424 0.00001
NM_004260.4(RECQL4):c.2968G>A (p.Val990Ile) rs151223648 0.00001
NM_004260.4(RECQL4):c.2986A>G (p.Met996Val) rs781661324 0.00001
NM_004260.4(RECQL4):c.2999T>C (p.Leu1000Pro) rs778030723 0.00001
NM_004260.4(RECQL4):c.3002C>T (p.Ala1001Val) rs918047641 0.00001
NM_004260.4(RECQL4):c.3019C>T (p.Leu1007Phe) rs1342565479 0.00001
NM_004260.4(RECQL4):c.302C>T (p.Ser101Leu) rs62530445 0.00001
NM_004260.4(RECQL4):c.3032A>G (p.Gln1011Arg) rs765732606 0.00001
NM_004260.4(RECQL4):c.3040C>G (p.His1014Asp) rs760096494 0.00001
NM_004260.4(RECQL4):c.3049A>G (p.Arg1017Gly) rs747239208 0.00001
NM_004260.4(RECQL4):c.304G>A (p.Val102Met) rs377536752 0.00001
NM_004260.4(RECQL4):c.3055+4C>T rs772320981 0.00001
NM_004260.4(RECQL4):c.3056-5G>A rs774320251 0.00001
NM_004260.4(RECQL4):c.3064C>T (p.Arg1022Cys) rs758008013 0.00001
NM_004260.4(RECQL4):c.3073G>C (p.Gly1025Arg) rs373739637 0.00001
NM_004260.4(RECQL4):c.3076G>T (p.Val1026Leu) rs370954099 0.00001
NM_004260.4(RECQL4):c.3079C>T (p.Leu1027Phe) rs767057306 0.00001
NM_004260.4(RECQL4):c.3088T>G (p.Phe1030Val) rs759912361 0.00001
NM_004260.4(RECQL4):c.3089T>C (p.Phe1030Ser) rs376504280 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.3131C>T (p.Thr1044Ile) rs778762414 0.00001
NM_004260.4(RECQL4):c.3173G>A (p.Arg1058His) rs778819494 0.00001
NM_004260.4(RECQL4):c.3175G>A (p.Val1059Met) rs749717457 0.00001
NM_004260.4(RECQL4):c.3176T>C (p.Val1059Ala) rs779743345 0.00001
NM_004260.4(RECQL4):c.3191G>A (p.Arg1064His) rs757703895 0.00001
NM_004260.4(RECQL4):c.319C>A (p.Gln107Lys) rs1026197269 0.00001
NM_004260.4(RECQL4):c.3203C>A (p.Ala1068Asp) rs751964578 0.00001
NM_004260.4(RECQL4):c.3206G>A (p.Arg1069His) rs752847936 0.00001
NM_004260.4(RECQL4):c.3227C>T (p.Ala1076Val) rs1489682094 0.00001
NM_004260.4(RECQL4):c.3236+4G>A rs575764344 0.00001
NM_004260.4(RECQL4):c.3237C>T (p.Ser1079=) rs770553956 0.00001
NM_004260.4(RECQL4):c.3259C>G (p.Pro1087Ala) rs768802673 0.00001
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) rs780200030 0.00001
NM_004260.4(RECQL4):c.3289A>G (p.Ser1097Gly) rs759304160 0.00001
NM_004260.4(RECQL4):c.3295A>G (p.Arg1099Gly) rs766056345 0.00001
NM_004260.4(RECQL4):c.3301A>C (p.Lys1101Gln) rs1060501381 0.00001
NM_004260.4(RECQL4):c.3304G>T (p.Asp1102Tyr) rs1422371025 0.00001
NM_004260.4(RECQL4):c.3319T>C (p.Tyr1107His) rs757342740 0.00001
NM_004260.4(RECQL4):c.3331G>A (p.Glu1111Lys) rs1331348912 0.00001
NM_004260.4(RECQL4):c.3334G>A (p.Glu1112Lys) rs753620447 0.00001
NM_004260.4(RECQL4):c.3338G>A (p.Gly1113Glu) rs572936673 0.00001
NM_004260.4(RECQL4):c.334A>C (p.Asn112His) rs1815223562 0.00001
NM_004260.4(RECQL4):c.3352G>A (p.Gly1118Ser) rs773909942 0.00001
NM_004260.4(RECQL4):c.3364G>A (p.Ala1122Thr) rs369843844 0.00001
NM_004260.4(RECQL4):c.3376G>A (p.Glu1126Lys) rs779826649 0.00001
NM_004260.4(RECQL4):c.3377A>G (p.Glu1126Gly) rs1030415007 0.00001
NM_004260.4(RECQL4):c.3393+5G>A rs1214839248 0.00001
NM_004260.4(RECQL4):c.344G>T (p.Gly115Val) rs1715996382 0.00001
NM_004260.4(RECQL4):c.3457G>A (p.Glu1153Lys) rs564143545 0.00001
NM_004260.4(RECQL4):c.3461A>G (p.Lys1154Arg) rs767821367 0.00001
NM_004260.4(RECQL4):c.3463T>C (p.Phe1155Leu) rs757502009 0.00001
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) rs1416975304 0.00001
NM_004260.4(RECQL4):c.3502+1G>C rs757563486 0.00001
NM_004260.4(RECQL4):c.3508C>T (p.Pro1170Ser) rs1038354357 0.00001
NM_004260.4(RECQL4):c.3518C>T (p.Pro1173Leu) rs1375776479 0.00001
NM_004260.4(RECQL4):c.3526G>C (p.Val1176Leu) rs751477241 0.00001
NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys) rs1341756990 0.00001
NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu) rs1827189895 0.00001
NM_004260.4(RECQL4):c.3536A>C (p.Gln1179Pro) rs939186872 0.00001
NM_004260.4(RECQL4):c.3541C>T (p.Arg1181Ter) rs765804620 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.355-3C>T rs778042700 0.00001
NM_004260.4(RECQL4):c.3552G>A (p.Trp1184Ter) rs1564786587 0.00001
NM_004260.4(RECQL4):c.3554G>C (p.Arg1185Thr) rs774756135 0.00001
NM_004260.4(RECQL4):c.3557A>G (p.Lys1186Arg) rs745722387 0.00001
NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr) rs745930478 0.00001
NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro) rs752487649 0.00001
NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met) rs770138542 0.00001
NM_004260.4(RECQL4):c.3602A>G (p.Glu1201Gly) rs781313959 0.00001
NM_004260.4(RECQL4):c.3618G>A (p.Val1206=) rs754822264 0.00001
NM_004260.4(RECQL4):c.367C>G (p.Leu123Val) rs1347447166 0.00001
NM_004260.4(RECQL4):c.368T>C (p.Leu123Pro) rs1301601410 0.00001
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) rs368160871 0.00001
NM_004260.4(RECQL4):c.397G>A (p.Ala133Thr) rs773349575 0.00001
NM_004260.4(RECQL4):c.404C>G (p.Ser135Cys) rs748201614 0.00001
NM_004260.4(RECQL4):c.410C>T (p.Ala137Val) rs527934999 0.00001
NM_004260.4(RECQL4):c.415A>C (p.Thr139Pro) rs1333499972 0.00001
NM_004260.4(RECQL4):c.422A>C (p.Lys141Thr) rs1178719750 0.00001
NM_004260.4(RECQL4):c.424C>T (p.Pro142Ser) rs781248589 0.00001
NM_004260.4(RECQL4):c.427C>G (p.Pro143Ala) rs1023001689 0.00001
NM_004260.4(RECQL4):c.435A>G (p.Thr145=) rs752154343 0.00001
NM_004260.4(RECQL4):c.437G>A (p.Gly146Glu) rs1464115370 0.00001
NM_004260.4(RECQL4):c.440C>T (p.Pro147Leu) rs759034699 0.00001
NM_004260.4(RECQL4):c.445C>T (p.Pro149Ser) rs766844431 0.00001
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu) rs773579080 0.00001
NM_004260.4(RECQL4):c.461A>G (p.Lys154Arg) rs1815075291 0.00001
NM_004260.4(RECQL4):c.467G>A (p.Ser156Asn) rs1481579348 0.00001
NM_004260.4(RECQL4):c.469G>A (p.Asp157Asn) rs746791320 0.00001
NM_004260.4(RECQL4):c.472G>A (p.Glu158Lys) rs1387642543 0.00001
NM_004260.4(RECQL4):c.474G>C (p.Glu158Asp) rs1186107059 0.00001
NM_004260.4(RECQL4):c.475C>T (p.Pro159Ser) rs868299027 0.00001
NM_004260.4(RECQL4):c.478C>A (p.Pro160Thr) rs758124770 0.00001
NM_004260.4(RECQL4):c.483G>C (p.Gln161His) rs985628516 0.00001
NM_004260.4(RECQL4):c.490G>A (p.Glu164Lys) rs576735078 0.00001
NM_004260.4(RECQL4):c.491A>T (p.Glu164Val) rs1554903532 0.00001
NM_004260.4(RECQL4):c.493C>A (p.Pro165Thr) rs766897765 0.00001
NM_004260.4(RECQL4):c.493C>T (p.Pro165Ser) rs766897765 0.00001
NM_004260.4(RECQL4):c.509G>A (p.Gly170Asp) rs768956367 0.00001
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln) rs770777125 0.00001
NM_004260.4(RECQL4):c.536T>C (p.Leu179Pro) rs753361853 0.00001
NM_004260.4(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378 0.00001
NM_004260.4(RECQL4):c.545G>A (p.Arg182Gln) rs565903685 0.00001
NM_004260.4(RECQL4):c.562C>T (p.Pro188Ser) rs769976284 0.00001
NM_004260.4(RECQL4):c.563C>T (p.Pro188Leu) rs773241386 0.00001
NM_004260.4(RECQL4):c.578G>A (p.Arg193Gln) rs747963862 0.00001
NM_004260.4(RECQL4):c.589G>A (p.Glu197Lys) rs778626045 0.00001
NM_004260.4(RECQL4):c.590A>C (p.Glu197Ala) rs768304412 0.00001
NM_004260.4(RECQL4):c.607G>A (p.Gly203Arg) rs1336852149 0.00001
NM_004260.4(RECQL4):c.611C>T (p.Ala204Val) rs757780731 0.00001
NM_004260.4(RECQL4):c.614C>T (p.Pro205Leu) rs751975669 0.00001
NM_004260.4(RECQL4):c.626G>A (p.Arg209Lys) rs753018522 0.00001
NM_004260.4(RECQL4):c.629C>G (p.Pro210Arg) rs746917248 0.00001
NM_004260.4(RECQL4):c.631G>C (p.Asp211His) rs776528292 0.00001
NM_004260.4(RECQL4):c.638G>A (p.Gly213Asp) rs1483707476 0.00001
NM_004260.4(RECQL4):c.648A>C (p.Glu216Asp) rs780500628 0.00001
NM_004260.4(RECQL4):c.664C>T (p.Pro222Ser) rs758876038 0.00001
NM_004260.4(RECQL4):c.677C>T (p.Ala226Val) rs763975196 0.00001
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe) rs1316434470 0.00001
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) rs745571670 0.00001
NM_004260.4(RECQL4):c.725T>G (p.Phe242Cys) rs780215594 0.00001
NM_004260.4(RECQL4):c.730G>A (p.Glu244Lys) rs756213173 0.00001
NM_004260.4(RECQL4):c.740T>C (p.Ile247Thr) rs752673956 0.00001
NM_004260.4(RECQL4):c.743G>A (p.Arg248His) rs759352592 0.00001
NM_004260.4(RECQL4):c.745G>T (p.Val249Leu) rs756397882 0.00001
NM_004260.4(RECQL4):c.758A>G (p.Gln253Arg) rs373588660 0.00001
NM_004260.4(RECQL4):c.776G>A (p.Gly259Asp) rs1284898299 0.00001
NM_004260.4(RECQL4):c.788G>A (p.Arg263Lys) rs1477769679 0.00001
NM_004260.4(RECQL4):c.795C>G (p.Asn265Lys) rs564678543 0.00001
NM_004260.4(RECQL4):c.802C>T (p.Pro268Ser) rs561010978 0.00001
NM_004260.4(RECQL4):c.803C>T (p.Pro268Leu) rs760340046 0.00001
NM_004260.4(RECQL4):c.806G>C (p.Trp269Ser) rs137853231 0.00001
NM_004260.4(RECQL4):c.808G>A (p.Glu270Lys) rs1344294148 0.00001
NM_004260.4(RECQL4):c.810G>C (p.Glu270Asp) rs1333353971 0.00001
NM_004260.4(RECQL4):c.832G>A (p.Glu278Lys) rs749625708 0.00001
NM_004260.4(RECQL4):c.839G>A (p.Ser280Asn) rs1452098347 0.00001
NM_004260.4(RECQL4):c.851C>T (p.Pro284Leu) rs972715381 0.00001
NM_004260.4(RECQL4):c.859G>A (p.Glu287Lys) rs1383587887 0.00001
NM_004260.4(RECQL4):c.869G>A (p.Gly290Glu) rs1007744170 0.00001
NM_004260.4(RECQL4):c.872C>G (p.Ala291Gly) rs1396400224 0.00001
NM_004260.4(RECQL4):c.875T>C (p.Val292Ala) rs1319653117 0.00001
NM_004260.4(RECQL4):c.877G>T (p.Ala293Ser) rs1814951208 0.00001
NM_004260.4(RECQL4):c.883G>A (p.Glu295Lys) rs755963144 0.00001
NM_004260.4(RECQL4):c.889G>A (p.Asp297Asn) rs767170672 0.00001
NM_004260.4(RECQL4):c.898G>T (p.Gly300Trp) rs764510816 0.00001
NM_004260.4(RECQL4):c.904C>T (p.Pro302Ser) rs771135444 0.00001
NM_004260.4(RECQL4):c.907G>C (p.Val303Leu) rs1489813654 0.00001
NM_004260.4(RECQL4):c.914C>T (p.Ala305Val) rs578139890 0.00001
NM_004260.4(RECQL4):c.923C>T (p.Pro308Leu) rs372417964 0.00001
NM_004260.4(RECQL4):c.940C>T (p.Pro314Ser) rs538222166 0.00001
NM_004260.4(RECQL4):c.943T>G (p.Ser315Ala) rs1172316141 0.00001
NM_004260.4(RECQL4):c.968G>T (p.Ser323Ile) rs769792064 0.00001
NM_004260.4(RECQL4):c.988G>A (p.Ala330Thr) rs757933716 0.00001
NM_004260.4(RECQL4):c.992G>C (p.Gly331Ala) rs1156246668 0.00001
NM_004260.4(RECQL4):c.998C>G (p.Ala333Gly) rs1586822076 0.00001
NC_000008.10:g.(?_145736804)_(145738531_?)dup
NC_000008.10:g.(?_145736804)_(145743178_?)dup
NC_000008.10:g.(?_145736809)_(145739102_?)dup
NC_000008.10:g.(?_145736809)_(145743174_?)dup
NC_000008.10:g.(?_145736814)_(145737964_?)dup
NC_000008.10:g.(?_145736814)_(145739106_?)dup
NC_000008.10:g.(?_145736814)_(145742902_?)dup
NC_000008.10:g.(?_145736814)_(145743168_?)dup
NC_000008.10:g.(?_145737517)_(145743168_?)dup
NC_000008.10:g.(?_145742424)_(145743168_?)dup
NC_000008.10:g.(?_145742976)_(145743168_?)dup
NC_000008.11:g.144516517_144516519inv
NM_004260.4(RECQL4):c.1000G>A (p.Glu334Lys) rs1814909763
NM_004260.4(RECQL4):c.1000G>C (p.Glu334Gln)
NM_004260.4(RECQL4):c.1001A>G (p.Glu334Gly)
NM_004260.4(RECQL4):c.1002G>C (p.Glu334Asp)
NM_004260.4(RECQL4):c.1003G>A (p.Gly335Ser) rs2130718181
NM_004260.4(RECQL4):c.1004G>A (p.Gly335Asp) rs915387235
NM_004260.4(RECQL4):c.1006A>C (p.Thr336Pro) rs2130718095
NM_004260.4(RECQL4):c.1006A>G (p.Thr336Ala)
NM_004260.4(RECQL4):c.1009G>T (p.Ala337Ser) rs1171953080
NM_004260.4(RECQL4):c.1010C>A (p.Ala337Asp) rs1434732916
NM_004260.4(RECQL4):c.1010C>G (p.Ala337Gly)
NM_004260.4(RECQL4):c.1010C>T (p.Ala337Val) rs1434732916
NM_004260.4(RECQL4):c.1012C>A (p.Pro338Thr) rs754299237
NM_004260.4(RECQL4):c.1013C>A (p.Pro338His) rs1554902388
NM_004260.4(RECQL4):c.1013C>T (p.Pro338Leu) rs1554902388
NM_004260.4(RECQL4):c.1015C>G (p.Leu339Val)
NM_004260.4(RECQL4):c.1016T>C (p.Leu339Pro) rs1554902362
NM_004260.4(RECQL4):c.1018C>T (p.His340Tyr)
NM_004260.4(RECQL4):c.1025T>C (p.Phe342Ser)
NM_004260.4(RECQL4):c.1028C>G (p.Pro343Arg) rs549381989
NM_004260.4(RECQL4):c.1031G>C (p.Arg344Pro) rs745874353
NM_004260.4(RECQL4):c.1031G>T (p.Arg344Leu) rs745874353
NM_004260.4(RECQL4):c.1033C>T (p.Leu345=)
NM_004260.4(RECQL4):c.1034T>C (p.Leu345Pro)
NM_004260.4(RECQL4):c.1035G>A (p.Leu345=)
NM_004260.4(RECQL4):c.1036G>T (p.Ala346Ser)
NM_004260.4(RECQL4):c.1037C>G (p.Ala346Gly) rs746740293
NM_004260.4(RECQL4):c.1040G>C (p.Arg347Pro)
NM_004260.4(RECQL4):c.1040G>T (p.Arg347Leu) rs757988816
NM_004260.4(RECQL4):c.1042C>A (p.His348Asn) rs1060501360
NM_004260.4(RECQL4):c.1042C>T (p.His348Tyr) rs1060501360
NM_004260.4(RECQL4):c.1043A>T (p.His348Leu) rs201763704
NM_004260.4(RECQL4):c.1045G>T (p.Asp349Tyr) rs1045634487
NM_004260.4(RECQL4):c.1047C>G (p.Asp349Glu) rs766767449
NM_004260.4(RECQL4):c.1050G>C (p.Arg350Ser)
NM_004260.4(RECQL4):c.1051G>A (p.Gly351Ser)
NM_004260.4(RECQL4):c.1052G>A (p.Gly351Asp)
NM_004260.4(RECQL4):c.1057T>G (p.Tyr353Asp) rs1387465313
NM_004260.4(RECQL4):c.1058A>C (p.Tyr353Ser) rs1564805480
NM_004260.4(RECQL4):c.1058A>G (p.Tyr353Cys) rs1564805480
NM_004260.4(RECQL4):c.1060G>T (p.Val354Leu) rs551940973
NM_004260.4(RECQL4):c.1063C>T (p.Arg355Trp) rs368601097
NM_004260.4(RECQL4):c.1064G>C (p.Arg355Pro) rs374743591
NM_004260.4(RECQL4):c.1064G>T (p.Arg355Leu) rs374743591
NM_004260.4(RECQL4):c.1067T>C (p.Leu356Pro)
NM_004260.4(RECQL4):c.1068_1094del (p.Asn357_Arg365del) rs1828134241
NM_004260.4(RECQL4):c.1069A>G (p.Asn357Asp) rs772924895
NM_004260.4(RECQL4):c.1073T>G (p.Met358Arg) rs376652305
NM_004260.4(RECQL4):c.1074G>A (p.Met358Ile) rs2130716492
NM_004260.4(RECQL4):c.1076A>G (p.Lys359Arg) rs2130716448
NM_004260.4(RECQL4):c.1077G>C (p.Lys359Asn) rs533185057
NM_004260.4(RECQL4):c.1077G>T (p.Lys359Asn)
NM_004260.4(RECQL4):c.1078C>G (p.Gln360Glu) rs375236875
NM_004260.4(RECQL4):c.1080G>C (p.Gln360His) rs768049351
NM_004260.4(RECQL4):c.1082A>G (p.Lys361Arg) rs2130716323
NM_004260.4(RECQL4):c.1086C>G (p.His362Gln) rs1828136142
NM_004260.4(RECQL4):c.1087T>C (p.Tyr363His) rs2130716237
NM_004260.4(RECQL4):c.1090G>C (p.Val364Leu)
NM_004260.4(RECQL4):c.1090G>T (p.Val364Leu) rs144637135
NM_004260.4(RECQL4):c.1091T>C (p.Val364Ala)
NM_004260.4(RECQL4):c.1093C>G (p.Arg365Gly)
NM_004260.4(RECQL4):c.1093C>T (p.Arg365Trp) rs1220847881
NM_004260.4(RECQL4):c.1096G>T (p.Gly366Cys) rs763114749
NM_004260.4(RECQL4):c.1099C>G (p.Arg367Gly) rs531175632
NM_004260.4(RECQL4):c.1100G>T (p.Arg367Leu) rs766344677
NM_004260.4(RECQL4):c.1103C>A (p.Ala368Glu) rs1564805178
NM_004260.4(RECQL4):c.1103C>T (p.Ala368Val) rs1564805178
NM_004260.4(RECQL4):c.1106T>C (p.Leu369Pro)
NM_004260.4(RECQL4):c.1106T>G (p.Leu369Arg) rs1586821015
NM_004260.4(RECQL4):c.1111A>G (p.Ser371Gly)
NM_004260.4(RECQL4):c.1116G>T (p.Arg372Ser) rs779492418
NM_004260.4(RECQL4):c.1120C>T (p.Leu374Phe) rs2130715472
NM_004260.4(RECQL4):c.1124G>T (p.Arg375Leu)
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1131+3A>G rs1218791786
NM_004260.4(RECQL4):c.1131+3A>T rs1218791786
NM_004260.4(RECQL4):c.1131+4A>G rs1828124749
NM_004260.4(RECQL4):c.1131G>C (p.Gln377His) rs911864123
NM_004260.4(RECQL4):c.1132-11G>C
NM_004260.4(RECQL4):c.1132-13G>A
NM_004260.4(RECQL4):c.1132-3C>G rs1586819954
NM_004260.4(RECQL4):c.1132-8C>G
NM_004260.4(RECQL4):c.1132G>A (p.Ala378Thr)
NM_004260.4(RECQL4):c.1135T>C (p.Trp379Arg)
NM_004260.4(RECQL4):c.1140G>T (p.Lys380Asn) rs1159732841
NM_004260.4(RECQL4):c.1143G>C (p.Gln381His)
NM_004260.4(RECQL4):c.1146G>C (p.Lys382Asn) rs759321310
NM_004260.4(RECQL4):c.1147T>C (p.Trp383Arg) rs1828094038
NM_004260.4(RECQL4):c.1150C>G (p.Arg384Gly) rs766026341
NM_004260.4(RECQL4):c.1151G>T (p.Arg384Leu) rs376045624
NM_004260.4(RECQL4):c.1154A>G (p.Lys385Arg) rs2130713589
NM_004260.4(RECQL4):c.1160G>A (p.Gly387Glu)
NM_004260.4(RECQL4):c.1166G>A (p.Cys389Tyr) rs1828090979
NM_004260.4(RECQL4):c.1169T>C (p.Phe390Ser) rs1586819715
NM_004260.4(RECQL4):c.1169T>G (p.Phe390Cys) rs1586819715
NM_004260.4(RECQL4):c.1172G>C (p.Gly391Ala) rs1225552858
NM_004260.4(RECQL4):c.1175G>A (p.Gly392Asp) rs745923592
NM_004260.4(RECQL4):c.1175G>C (p.Gly392Ala) rs745923592
NM_004260.4(RECQL4):c.1175GTG[2] (p.Gly394del) rs1828087096
NM_004260.4(RECQL4):c.1176T>C (p.Gly392=)
NM_004260.4(RECQL4):c.1178G>A (p.Gly393Asp)
NM_004260.4(RECQL4):c.1178G>T (p.Gly393Val)
NM_004260.4(RECQL4):c.1180G>A (p.Gly394Ser) rs1828087724
NM_004260.4(RECQL4):c.1181G>T (p.Gly394Val) rs1167568999
NM_004260.4(RECQL4):c.1184C>G (p.Ala395Gly) rs758299060
NM_004260.4(RECQL4):c.1186A>G (p.Thr396Ala) rs2130713097
NM_004260.4(RECQL4):c.1189G>A (p.Val397Ile) rs867681178
NM_004260.4(RECQL4):c.1192A>C (p.Thr398Pro) rs765190572
NM_004260.4(RECQL4):c.1193C>A (p.Thr398Lys) rs1434143797
NM_004260.4(RECQL4):c.1193C>T (p.Thr398Ile) rs1434143797
NM_004260.4(RECQL4):c.1196C>T (p.Thr399Ile) rs1828084287
NM_004260.4(RECQL4):c.1198A>G (p.Lys400Glu) rs1828083852
NM_004260.4(RECQL4):c.1200G>C (p.Lys400Asn) rs2130712891
NM_004260.4(RECQL4):c.1201G>A (p.Glu401Lys)
NM_004260.4(RECQL4):c.1202A>G (p.Glu401Gly) rs2130712857
NM_004260.4(RECQL4):c.1204T>A (p.Ser402Thr) rs2130712812
NM_004260.4(RECQL4):c.1210T>C (p.Phe404Leu) rs1828082019
NM_004260.4(RECQL4):c.1211T>C (p.Phe404Ser)
NM_004260.4(RECQL4):c.1211_1212delinsCT (p.Phe404Ser) rs2130712707
NM_004260.4(RECQL4):c.1217A>G (p.Asn406Ser) rs1344133538
NM_004260.4(RECQL4):c.1220A>C (p.Glu407Ala) rs1564804098
NM_004260.4(RECQL4):c.1223A>G (p.Gln408Arg)
NM_004260.4(RECQL4):c.1227C>G (p.Phe409Leu) rs1060504219
NM_004260.4(RECQL4):c.1228G>A (p.Asp410Asn) rs558779399
NM_004260.4(RECQL4):c.1229A>G (p.Asp410Gly) rs1554901692
NM_004260.4(RECQL4):c.1231C>G (p.His411Asp)
NM_004260.4(RECQL4):c.1231C>T (p.His411Tyr)
NM_004260.4(RECQL4):c.1232A>C (p.His411Pro) rs1464725893
NM_004260.4(RECQL4):c.1234T>C (p.Trp412Arg) rs377546182
NM_004260.4(RECQL4):c.1235G>C (p.Trp412Ser)
NM_004260.4(RECQL4):c.1238C>A (p.Ala413Glu)
NM_004260.4(RECQL4):c.1241C>T (p.Ala414Val)
NM_004260.4(RECQL4):c.1244A>C (p.Gln415Pro) rs1478973162
NM_004260.4(RECQL4):c.1249C>A (p.Pro417Thr) rs1457479453
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln) rs548957135
NM_004260.4(RECQL4):c.1253G>T (p.Arg418Leu)
NM_004260.4(RECQL4):c.1253_1254delinsAA (p.Arg418Gln)
NM_004260.4(RECQL4):c.1257A>G (p.Pro419=) rs2130711922
NM_004260.4(RECQL4):c.1258+5G>C rs1828073339
NM_004260.4(RECQL4):c.1258+5_1258+6delinsAT rs2130711870
NM_004260.4(RECQL4):c.1258+6A>C rs34437789
NM_004260.4(RECQL4):c.1258+6A>G rs34437789
NM_004260.4(RECQL4):c.1258G>C (p.Ala420Pro) rs2130711913
NM_004260.4(RECQL4):c.1259-10C>T
NM_004260.4(RECQL4):c.1262G>A (p.Ser421Asn) rs777333651
NM_004260.4(RECQL4):c.1263T>G (p.Ser421Arg)
NM_004260.4(RECQL4):c.1264G>A (p.Glu422Lys)
NM_004260.4(RECQL4):c.1267G>A (p.Glu423Lys) rs1828019195
NM_004260.4(RECQL4):c.1270G>C (p.Asp424His) rs765611938
NM_004260.4(RECQL4):c.1270_1271delinsAT (p.Asp424Ile) rs2130708945
NM_004260.4(RECQL4):c.1272C>G (p.Asp424Glu) rs1586817672
NM_004260.4(RECQL4):c.1274C>G (p.Thr425Arg) rs1266028485
NM_004260.4(RECQL4):c.1274C>T (p.Thr425Ile)
NM_004260.4(RECQL4):c.1276G>A (p.Asp426Asn) rs1048010208
NM_004260.4(RECQL4):c.1280C>A (p.Ala427Asp) rs2130708802
NM_004260.4(RECQL4):c.1282G>C (p.Val428Leu)
NM_004260.4(RECQL4):c.1283T>C (p.Val428Ala)
NM_004260.4(RECQL4):c.1285G>A (p.Gly429Arg) rs1828017237
NM_004260.4(RECQL4):c.1289C>G (p.Pro430Arg)
NM_004260.4(RECQL4):c.1289C>T (p.Pro430Leu)
NM_004260.4(RECQL4):c.1290T>G (p.Pro430=)
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys) rs1828015944
NM_004260.4(RECQL4):c.1294C>T (p.Pro432Ser)
NM_004260.4(RECQL4):c.1298T>G (p.Leu433Arg)
NM_004260.4(RECQL4):c.1300G>A (p.Val434Ile) rs761938967
NM_004260.4(RECQL4):c.1303C>G (p.Pro435Ala)
NM_004260.4(RECQL4):c.1304C>T (p.Pro435Leu) rs2130708528
NM_004260.4(RECQL4):c.1306T>C (p.Ser436Pro) rs1564803061
NM_004260.4(RECQL4):c.1307C>T (p.Ser436Leu) rs2130708487
NM_004260.4(RECQL4):c.1312C>G (p.Gln438Glu)
NM_004260.4(RECQL4):c.1314A>G (p.Gln438=)
NM_004260.4(RECQL4):c.1316C>G (p.Pro439Arg) rs1586817456
NM_004260.4(RECQL4):c.1316C>T (p.Pro439Leu)
NM_004260.4(RECQL4):c.1319T>G (p.Val440Gly) rs1828012949
NM_004260.4(RECQL4):c.1321C>G (p.Pro441Ala)
NM_004260.4(RECQL4):c.1322C>T (p.Pro441Leu) rs943887894
NM_004260.4(RECQL4):c.1325A>C (p.Glu442Ala) rs1828012352
NM_004260.4(RECQL4):c.1327G>A (p.Val443Met) rs375694004
NM_004260.4(RECQL4):c.1328T>G (p.Val443Gly) rs1554901232
NM_004260.4(RECQL4):c.1333A>G (p.Ser445Gly)
NM_004260.4(RECQL4):c.1334G>A (p.Ser445Asn)
NM_004260.4(RECQL4):c.1334G>C (p.Ser445Thr) rs747571861
NM_004260.4(RECQL4):c.1342C>G (p.Pro448Ala) rs1586817338
NM_004260.4(RECQL4):c.1342C>T (p.Pro448Ser) rs1586817338
NM_004260.4(RECQL4):c.1343C>T (p.Pro448Leu)
NM_004260.4(RECQL4):c.1345A>G (p.Thr449Ala) rs535692036
NM_004260.4(RECQL4):c.1346C>A (p.Thr449Asn) rs1828009684
NM_004260.4(RECQL4):c.1346C>T (p.Thr449Ile) rs1828009684
NM_004260.4(RECQL4):c.1354C>A (p.Pro452Thr) rs1198908673
NM_004260.4(RECQL4):c.1355C>T (p.Pro452Leu)
NM_004260.4(RECQL4):c.1357C>G (p.Leu453Val) rs754354054
NM_004260.4(RECQL4):c.1357C>T (p.Leu453Phe) rs754354054
NM_004260.4(RECQL4):c.1358T>C (p.Leu453Pro) rs766718254
NM_004260.4(RECQL4):c.1364C>T (p.Ser455Phe) rs1586817192
NM_004260.4(RECQL4):c.1367T>C (p.Leu456Pro) rs2130707777
NM_004260.4(RECQL4):c.1369G>A (p.Gly457Arg) rs750720279
NM_004260.4(RECQL4):c.1370G>A (p.Gly457Glu)
NM_004260.4(RECQL4):c.1375T>C (p.Ser459Pro) rs1828003048
NM_004260.4(RECQL4):c.1379G>A (p.Gly460Glu) rs764224012
NM_004260.4(RECQL4):c.1390+12_1390+13delinsAA
NM_004260.4(RECQL4):c.1391-4_1391-3delinsTT
NM_004260.4(RECQL4):c.1393A>G (p.Thr465Ala) rs1586816517
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004260.4(RECQL4):c.1399G>A (p.Ala467Thr) rs770371344
NM_004260.4(RECQL4):c.1402G>A (p.Glu468Lys)
NM_004260.4(RECQL4):c.1404G>C (p.Glu468Asp) rs371046973
NM_004260.4(RECQL4):c.1405G>A (p.Val469Met)
NM_004260.4(RECQL4):c.1414_1415delinsTT (p.Ala472Phe) rs1827984088
NM_004260.4(RECQL4):c.1415C>A (p.Ala472Asp) rs587778653
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.4(RECQL4):c.1420G>A (p.Glu474Lys) rs2130706215
NM_004260.4(RECQL4):c.1424_1425delinsCC (p.Gln475Pro) rs1827982877
NM_004260.4(RECQL4):c.1425G>C (p.Gln475His) rs1263862786
NM_004260.4(RECQL4):c.1429G>A (p.Gly477Arg)
NM_004260.4(RECQL4):c.1430G>A (p.Gly477Glu)
NM_004260.4(RECQL4):c.1432C>A (p.His478Asn)
NM_004260.4(RECQL4):c.1433A>G (p.His478Arg) rs925385244
NM_004260.4(RECQL4):c.1435C>G (p.Gln479Glu)
NM_004260.4(RECQL4):c.1437A>C (p.Gln479His) rs2130706041
NM_004260.4(RECQL4):c.1438G>A (p.Ala480Thr)
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) rs767337200
NM_004260.4(RECQL4):c.1439C>G (p.Ala480Gly) rs767337200
NM_004260.4(RECQL4):c.1439C>T (p.Ala480Val) rs767337200
NM_004260.4(RECQL4):c.1442T>C (p.Phe481Ser) rs1586816237
NM_004260.4(RECQL4):c.1442T>G (p.Phe481Cys) rs1586816237
NM_004260.4(RECQL4):c.1444C>A (p.Arg482Ser) rs573164516
NM_004260.4(RECQL4):c.1445G>C (p.Arg482Pro) rs751616549
NM_004260.4(RECQL4):c.1445G>T (p.Arg482Leu)
NM_004260.4(RECQL4):c.1447C>G (p.Pro483Ala)
NM_004260.4(RECQL4):c.1447C>T (p.Pro483Ser)
NM_004260.4(RECQL4):c.1448C>T (p.Pro483Leu)
NM_004260.4(RECQL4):c.1451G>A (p.Gly484Glu)
NM_004260.4(RECQL4):c.1452G>A (p.Gly484=)
NM_004260.4(RECQL4):c.1454A>G (p.Gln485Arg)
NM_004260.4(RECQL4):c.1463C>T (p.Ala488Val) rs2130705655
NM_004260.4(RECQL4):c.1465G>C (p.Val489Leu) rs1250323268
NM_004260.4(RECQL4):c.1465G>T (p.Val489Phe)
NM_004260.4(RECQL4):c.1468A>T (p.Met490Leu)
NM_004260.4(RECQL4):c.1469T>C (p.Met490Thr) rs1554900934
NM_004260.4(RECQL4):c.1470G>C (p.Met490Ile) rs1464951222
NM_004260.4(RECQL4):c.1473_1475dup (p.Arg491_Ile492insMet)
NM_004260.4(RECQL4):c.1474A>G (p.Ile492Val) rs1564802069
NM_004260.4(RECQL4):c.1478T>C (p.Leu493Pro) rs1245043798
NM_004260.4(RECQL4):c.1481C>T (p.Ser494Phe)
NM_004260.4(RECQL4):c.1483+3G>T rs771224692
NM_004260.4(RECQL4):c.1483+4A>C rs962228942
NM_004260.4(RECQL4):c.1483+6C>G
NM_004260.4(RECQL4):c.1483G>C (p.Gly495Arg)
NM_004260.4(RECQL4):c.1486A>T (p.Ile496Phe) rs2130704497
NM_004260.4(RECQL4):c.1487T>G (p.Ile496Ser)
NM_004260.4(RECQL4):c.1490C>A (p.Ser497Tyr) rs1586815479
NM_004260.4(RECQL4):c.1490C>G (p.Ser497Cys) rs1586815479
NM_004260.4(RECQL4):c.1492A>G (p.Thr498Ala)
NM_004260.4(RECQL4):c.1505T>G (p.Leu502Arg)
NM_004260.4(RECQL4):c.1507C>G (p.Pro503Ala) rs2130704218
NM_004260.4(RECQL4):c.1514G>A (p.Gly505Asp) rs1004394987
NM_004260.4(RECQL4):c.1514G>C (p.Gly505Ala) rs1004394987
NM_004260.4(RECQL4):c.1516G>A (p.Ala506Thr)
NM_004260.4(RECQL4):c.1516G>C (p.Ala506Pro) rs1473530499
NM_004260.4(RECQL4):c.1520G>A (p.Gly507Asp)
NM_004260.4(RECQL4):c.1529T>C (p.Leu510Pro) rs1564801649
NM_004260.4(RECQL4):c.1531T>G (p.Cys511Gly) rs1226284707
NM_004260.4(RECQL4):c.1535A>G (p.Tyr512Cys) rs2130703806
NM_004260.4(RECQL4):c.1539G>C (p.Gln513His) rs1358624560
NM_004260.4(RECQL4):c.1539G>T (p.Gln513His)
NM_004260.4(RECQL4):c.1544C>G (p.Pro515Arg) rs1260540483
NM_004260.4(RECQL4):c.1547C>G (p.Ala516Gly)
NM_004260.4(RECQL4):c.1547C>T (p.Ala516Val) rs762113412
NM_004260.4(RECQL4):c.1552_1553delinsGC (p.Leu518Ala) rs1827944394
NM_004260.4(RECQL4):c.1553T>C (p.Leu518Pro) rs2130703525
NM_004260.4(RECQL4):c.1555_1560del (p.Tyr519_Ser520del) rs1210416985
NM_004260.4(RECQL4):c.1556A>C (p.Tyr519Ser) rs1038685366
NM_004260.4(RECQL4):c.1556A>G (p.Tyr519Cys) rs1038685366
NM_004260.4(RECQL4):c.1558A>G (p.Ser520Gly) rs1827943643
NM_004260.4(RECQL4):c.1559G>C (p.Ser520Thr) rs936553682
NM_004260.4(RECQL4):c.1559G>T (p.Ser520Ile)
NM_004260.4(RECQL4):c.1562G>C (p.Arg521Pro)
NM_004260.4(RECQL4):c.1568G>A (p.Ser523Asn) rs754735053
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.1570C>A (p.Pro524Thr)
NM_004260.4(RECQL4):c.1573T>C (p.Cys525Arg) rs886043101
NM_004260.4(RECQL4):c.1573T>G (p.Cys525Gly)
NM_004260.4(RECQL4):c.1574G>C (p.Cys525Ser) rs2130703120
NM_004260.4(RECQL4):c.1575C>G (p.Cys525Trp) rs1318317428
NM_004260.4(RECQL4):c.1580C>T (p.Thr527Met) rs766354337
NM_004260.4(RECQL4):c.1584G>C (p.Leu528Phe)
NM_004260.4(RECQL4):c.1585G>T (p.Val529Phe)
NM_004260.4(RECQL4):c.1585GTC[3] (p.Val530dup) rs778439963
NM_004260.4(RECQL4):c.1588G>A (p.Val530Ile) rs1554900626
NM_004260.4(RECQL4):c.1592C>A (p.Ser531Tyr) rs774637277
NM_004260.4(RECQL4):c.1594C>T (p.Pro532Ser)
NM_004260.4(RECQL4):c.1595C>T (p.Pro532Leu) rs1827933646
NM_004260.4(RECQL4):c.1597C>G (p.Leu533Val) rs769939735
NM_004260.4(RECQL4):c.1601T>C (p.Leu534Pro) rs1309254569
NM_004260.4(RECQL4):c.1603T>C (p.Ser535Pro) rs777773509
NM_004260.4(RECQL4):c.1610T>C (p.Met537Thr)
NM_004260.4(RECQL4):c.1614T>G (p.Asp538Glu) rs563786469
NM_004260.4(RECQL4):c.1615G>C (p.Asp539His) rs1219418730
NM_004260.4(RECQL4):c.1619A>C (p.Gln540Pro) rs754788555
NM_004260.4(RECQL4):c.1619A>G (p.Gln540Arg) rs754788555
NM_004260.4(RECQL4):c.1620+14_1620+15delinsAA
NM_004260.4(RECQL4):c.1620+3G>C rs1827929677
NM_004260.4(RECQL4):c.1620+5G>A rs1375331593
NM_004260.4(RECQL4):c.1620+6C>T rs753574521
NM_004260.4(RECQL4):c.1620G>A (p.Gln540=) rs1827929982
NM_004260.4(RECQL4):c.1620G>C (p.Gln540His) rs1827929982
NM_004260.4(RECQL4):c.1621-3C>G rs1827866210
NM_004260.4(RECQL4):c.1621-3C>T
NM_004260.4(RECQL4):c.1621-5T>A rs2130699130
NM_004260.4(RECQL4):c.1621G>A (p.Val541Met) rs1827866032
NM_004260.4(RECQL4):c.1621G>C (p.Val541Leu) rs1827866032
NM_004260.4(RECQL4):c.1627G>A (p.Gly543Ser) rs1193351573
NM_004260.4(RECQL4):c.1633C>T (p.Pro545Ser) rs1398698946
NM_004260.4(RECQL4):c.1634C>T (p.Pro545Leu) rs2130698914
NM_004260.4(RECQL4):c.1635_1637del (p.Pro546del) rs1827863465
NM_004260.4(RECQL4):c.1637C>G (p.Pro546Arg) rs377298374
NM_004260.4(RECQL4):c.1645A>G (p.Lys549Glu) rs542466006
NM_004260.4(RECQL4):c.1646A>G (p.Lys549Arg) rs1827862355
NM_004260.4(RECQL4):c.1647G>C (p.Lys549Asn) rs371972881
NM_004260.4(RECQL4):c.1648G>A (p.Ala550Thr)
NM_004260.4(RECQL4):c.1649C>G (p.Ala550Gly) rs764297840
NM_004260.4(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.4(RECQL4):c.1651G>A (p.Ala551Thr)
NM_004260.4(RECQL4):c.1652C>A (p.Ala551Asp) rs587778643
NM_004260.4(RECQL4):c.1652C>G (p.Ala551Gly) rs587778643
NM_004260.4(RECQL4):c.1657A>G (p.Ile553Val)
NM_004260.4(RECQL4):c.1661A>T (p.His554Leu) rs779426316
NM_004260.4(RECQL4):c.1662C>G (p.His554Gln)
NM_004260.4(RECQL4):c.1664C>G (p.Ser555Trp)
NM_004260.4(RECQL4):c.1666G>A (p.Gly556Ser) rs756459145
NM_004260.4(RECQL4):c.1667G>T (p.Gly556Val) rs575020739
NM_004260.4(RECQL4):c.1668C>T (p.Gly556=) rs1339382948
NM_004260.4(RECQL4):c.1669A>T (p.Met557Leu) rs1270237157
NM_004260.4(RECQL4):c.1670T>C (p.Met557Thr) rs1432340675
NM_004260.4(RECQL4):c.1671G>A (p.Met557Ile) rs1564800052
NM_004260.4(RECQL4):c.1673C>T (p.Thr558Ile)
NM_004260.4(RECQL4):c.1676G>A (p.Arg559Lys) rs1324762406
NM_004260.4(RECQL4):c.1676G>C (p.Arg559Thr) rs1324762406
NM_004260.4(RECQL4):c.1677G>C (p.Arg559Ser) rs750667308
NM_004260.4(RECQL4):c.1682A>T (p.Gln561Leu) rs2130698329
NM_004260.4(RECQL4):c.1700A>C (p.Gln567Pro) rs2130698088
NM_004260.4(RECQL4):c.1701G>C (p.Gln567His)
NM_004260.4(RECQL4):c.1702A>G (p.Lys568Glu) rs1222844262
NM_004260.4(RECQL4):c.1704+3G>A rs1210896009
NM_004260.4(RECQL4):c.1704+3G>T
NM_004260.4(RECQL4):c.1704+4G>A
NM_004260.4(RECQL4):c.1704+5G>A rs771504530
NM_004260.4(RECQL4):c.1704+6G>T rs747653079
NM_004260.4(RECQL4):c.1705-23_1705-7dup rs749752883
NM_004260.4(RECQL4):c.1705-7C>A rs1377388737
NM_004260.4(RECQL4):c.1705A>G (p.Ile569Val) rs2130697073
NM_004260.4(RECQL4):c.1708C>G (p.Arg570Gly) rs373178405
NM_004260.4(RECQL4):c.1714G>A (p.Ala572Thr) rs1189301415
NM_004260.4(RECQL4):c.1715C>T (p.Ala572Val)
NM_004260.4(RECQL4):c.1718A>G (p.Gln573Arg) rs2130696913
NM_004260.4(RECQL4):c.1720G>C (p.Val574Leu)
NM_004260.4(RECQL4):c.1723C>G (p.His575Asp) rs1214615126
NM_004260.4(RECQL4):c.1724A>G (p.His575Arg)
NM_004260.4(RECQL4):c.1726G>T (p.Val576Leu) rs570331496
NM_004260.4(RECQL4):c.1726_1731dup (p.Val576_Leu577dup) rs1354602225
NM_004260.4(RECQL4):c.1727T>C (p.Val576Ala)
NM_004260.4(RECQL4):c.1733T>C (p.Met578Thr) rs1293785230
NM_004260.4(RECQL4):c.1733T>G (p.Met578Arg)
NM_004260.4(RECQL4):c.1734G>A (p.Met578Ile) rs1416552093
NM_004260.4(RECQL4):c.1735C>A (p.Leu579Met)
NM_004260.4(RECQL4):c.1738A>C (p.Thr580Pro) rs1827837140
NM_004260.4(RECQL4):c.1739C>T (p.Thr580Ile)
NM_004260.4(RECQL4):c.1740A>G (p.Thr580=)
NM_004260.4(RECQL4):c.1741C>T (p.Pro581Ser) rs776147492
NM_004260.4(RECQL4):c.1742C>G (p.Pro581Arg)
NM_004260.4(RECQL4):c.1742C>T (p.Pro581Leu)
NM_004260.4(RECQL4):c.1750C>A (p.Leu584Met) rs2130696442
NM_004260.4(RECQL4):c.1750C>G (p.Leu584Val) rs2130696442
NM_004260.4(RECQL4):c.1751TGG[1] (p.Val585del) rs2130696350
NM_004260.4(RECQL4):c.1753G>C (p.Val585Leu)
NM_004260.4(RECQL4):c.1753G>T (p.Val585Leu) rs770367395
NM_004260.4(RECQL4):c.1754T>C (p.Val585Ala) rs927576418
NM_004260.4(RECQL4):c.1756G>T (p.Gly586Trp) rs878854643
NM_004260.4(RECQL4):c.1758G>A (p.Gly586=)
NM_004260.4(RECQL4):c.1759G>A (p.Ala587Thr) rs1586810759
NM_004260.4(RECQL4):c.1759G>C (p.Ala587Pro) rs1586810759
NM_004260.4(RECQL4):c.1759G>T (p.Ala587Ser)
NM_004260.4(RECQL4):c.1760C>A (p.Ala587Glu) rs747307935
NM_004260.4(RECQL4):c.1763G>C (p.Gly588Ala)
NM_004260.4(RECQL4):c.1765G>A (p.Gly589Ser) rs1060501364
NM_004260.4(RECQL4):c.1766G>A (p.Gly589Asp) rs1586810698
NM_004260.4(RECQL4):c.1766G>C (p.Gly589Ala) rs1586810698
NM_004260.4(RECQL4):c.1769T>C (p.Leu590Pro) rs772166765
NM_004260.4(RECQL4):c.1769T>G (p.Leu590Arg) rs772166765
NM_004260.4(RECQL4):c.1771C>A (p.Pro591Thr) rs909777665
NM_004260.4(RECQL4):c.1771C>T (p.Pro591Ser) rs909777665
NM_004260.4(RECQL4):c.1772C>A (p.Pro591His) rs2721191
NM_004260.4(RECQL4):c.1772C>G (p.Pro591Arg) rs2721191
NM_004260.4(RECQL4):c.1774C>G (p.Pro592Ala)
NM_004260.4(RECQL4):c.1775C>T (p.Pro592Leu) rs951288456
NM_004260.4(RECQL4):c.1778C>A (p.Ala593Asp) rs1286553686
NM_004260.4(RECQL4):c.1778C>G (p.Ala593Gly) rs1286553686
NM_004260.4(RECQL4):c.1778C>T (p.Ala593Val)
NM_004260.4(RECQL4):c.1783C>G (p.Gln595Glu) rs1018200211
NM_004260.4(RECQL4):c.1786C>A (p.Leu596Met) rs2130695683
NM_004260.4(RECQL4):c.1787T>C (p.Leu596Pro) rs1827827905
NM_004260.4(RECQL4):c.1790C>T (p.Pro597Leu) rs1586810446
NM_004260.4(RECQL4):c.1792C>G (p.Pro598Ala) rs1827827255
NM_004260.4(RECQL4):c.1792C>T (p.Pro598Ser) rs1827827255
NM_004260.4(RECQL4):c.1793C>G (p.Pro598Arg) rs1010524385
NM_004260.4(RECQL4):c.1793C>T (p.Pro598Leu)
NM_004260.4(RECQL4):c.1795G>A (p.Val599Ile)
NM_004260.4(RECQL4):c.1796T>C (p.Val599Ala)
NM_004260.4(RECQL4):c.1798G>A (p.Ala600Thr)
NM_004260.4(RECQL4):c.1798G>C (p.Ala600Pro)
NM_004260.4(RECQL4):c.1799C>T (p.Ala600Val)
NM_004260.4(RECQL4):c.1804G>A (p.Ala602Thr) rs1827825605
NM_004260.4(RECQL4):c.1804G>C (p.Ala602Pro)
NM_004260.4(RECQL4):c.1804G>T (p.Ala602Ser) rs1827825605
NM_004260.4(RECQL4):c.1805C>G (p.Ala602Gly) rs773424120
NM_004260.4(RECQL4):c.1807T>C (p.Cys603Arg) rs1060501379
NM_004260.4(RECQL4):c.1811T>C (p.Ile604Thr) rs1192112207
NM_004260.4(RECQL4):c.1816G>A (p.Glu606Lys) rs878854644
NM_004260.4(RECQL4):c.1819G>A (p.Ala607Thr)
NM_004260.4(RECQL4):c.1820C>G (p.Ala607Gly) rs1479605538
NM_004260.4(RECQL4):c.1829T>G (p.Leu610Arg)
NM_004260.4(RECQL4):c.1831T>C (p.Ser611Pro) rs2130694941
NM_004260.4(RECQL4):c.1832C>T (p.Ser611Phe) rs766282231
NM_004260.4(RECQL4):c.1843C>G (p.His615Asp)
NM_004260.4(RECQL4):c.1844A>C (p.His615Pro) rs1586810045
NM_004260.4(RECQL4):c.1844_1852del (p.His615_Phe617del)
NM_004260.4(RECQL4):c.1845C>A (p.His615Gln)
NM_004260.4(RECQL4):c.1846A>C (p.Asn616His)
NM_004260.4(RECQL4):c.1846A>G (p.Asn616Asp) rs752370500
NM_004260.4(RECQL4):c.1851C>A (p.Phe617Leu)
NM_004260.4(RECQL4):c.1851C>G (p.Phe617Leu) rs754403044
NM_004260.4(RECQL4):c.1852C>G (p.Arg618Gly) rs766726409
NM_004260.4(RECQL4):c.1853G>C (p.Arg618Pro) rs776616498
NM_004260.4(RECQL4):c.1855C>T (p.Pro619Ser) rs773620376
NM_004260.4(RECQL4):c.1856C>T (p.Pro619Leu) rs1586809939
NM_004260.4(RECQL4):c.1858T>C (p.Cys620Arg) rs762061985
NM_004260.4(RECQL4):c.1860C>G (p.Cys620Trp) rs1827815076
NM_004260.4(RECQL4):c.1861_1875del (p.Tyr621_Cys625del)
NM_004260.4(RECQL4):c.1864C>G (p.Leu622Val)
NM_004260.4(RECQL4):c.1868G>C (p.Arg623Pro) rs201734382
NM_004260.4(RECQL4):c.1870G>C (p.Val624Leu)
NM_004260.4(RECQL4):c.1877A>G (p.Lys626Arg) rs778391731
NM_004260.4(RECQL4):c.1878+5G>A rs1827811268
NM_004260.4(RECQL4):c.1879-14C>A
NM_004260.4(RECQL4):c.1879-3C>A rs773289669
NM_004260.4(RECQL4):c.1879-3C>T rs773289669
NM_004260.4(RECQL4):c.1879-7G>C
NM_004260.4(RECQL4):c.1882C>G (p.Leu628Val)
NM_004260.4(RECQL4):c.1882C>T (p.Leu628Phe) rs1336158277
NM_004260.4(RECQL4):c.1886G>C (p.Arg629Pro) rs761794554
NM_004260.4(RECQL4):c.1889A>C (p.Glu630Ala) rs2130692831
NM_004260.4(RECQL4):c.1889A>G (p.Glu630Gly) rs2130692831
NM_004260.4(RECQL4):c.1889A>T (p.Glu630Val) rs2130692831
NM_004260.4(RECQL4):c.1889_1890delinsCA (p.Glu630Ala) rs2130692809
NM_004260.4(RECQL4):c.1891C>A (p.Arg631Ser) rs748941688
NM_004260.4(RECQL4):c.1892G>C (p.Arg631Pro) rs771179943
NM_004260.4(RECQL4):c.1892G>T (p.Arg631Leu) rs771179943
NM_004260.4(RECQL4):c.1895T>C (p.Met632Thr) rs757829517
NM_004260.4(RECQL4):c.1895T>G (p.Met632Arg) rs757829517
NM_004260.4(RECQL4):c.1896G>A (p.Met632Ile) rs1827792863
NM_004260.4(RECQL4):c.1897G>T (p.Gly633Cys)
NM_004260.4(RECQL4):c.1898G>C (p.Gly633Ala) rs2130692660
NM_004260.4(RECQL4):c.1901T>C (p.Val634Ala) rs1827791855
NM_004260.4(RECQL4):c.1904A>C (p.His635Pro) rs1291839407
NM_004260.4(RECQL4):c.1906T>C (p.Cys636Arg)
NM_004260.4(RECQL4):c.1909T>C (p.Phe637Leu) rs1554899485
NM_004260.4(RECQL4):c.1916G>A (p.Gly639Asp)
NM_004260.4(RECQL4):c.1916G>T (p.Gly639Val)
NM_004260.4(RECQL4):c.1918C>G (p.Leu640Val)
NM_004260.4(RECQL4):c.1918_1920del (p.Leu640del) rs1564798241
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.4(RECQL4):c.191C>G (p.Ser64Trp)
NM_004260.4(RECQL4):c.191C>T (p.Ser64Leu) rs1554904702
NM_004260.4(RECQL4):c.1921A>G (p.Thr641Ala)
NM_004260.4(RECQL4):c.1922C>T (p.Thr641Ile) rs867428284
NM_004260.4(RECQL4):c.1924G>A (p.Ala642Thr) rs2130692174
NM_004260.4(RECQL4):c.1924G>C (p.Ala642Pro)
NM_004260.4(RECQL4):c.1924GCCACA[1] (p.642AT[1]) rs781471399
NM_004260.4(RECQL4):c.1924GCCACA[3] (p.642AT[3]) rs781471399
NM_004260.4(RECQL4):c.1928C>T (p.Thr643Ile) rs1285078612
NM_004260.4(RECQL4):c.1931C>A (p.Ala644Asp)
NM_004260.4(RECQL4):c.1933A>C (p.Thr645Pro)
NM_004260.4(RECQL4):c.1933A>T (p.Thr645Ser) rs1302391250
NM_004260.4(RECQL4):c.1934C>G (p.Thr645Arg) rs1827786205
NM_004260.4(RECQL4):c.1934C>T (p.Thr645Ile)
NM_004260.4(RECQL4):c.1936C>A (p.Arg646Ser) rs398124116
NM_004260.4(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.4(RECQL4):c.193C>A (p.Leu65Ile)
NM_004260.4(RECQL4):c.193C>T (p.Leu65Phe) rs1564811672
NM_004260.4(RECQL4):c.1940G>A (p.Arg647His) rs372664774
NM_004260.4(RECQL4):c.1940G>C (p.Arg647Pro)
NM_004260.4(RECQL4):c.1943C>T (p.Thr648Ile) rs2130691808
NM_004260.4(RECQL4):c.1949G>C (p.Ser650Thr)
NM_004260.4(RECQL4):c.1951G>A (p.Asp651Asn)
NM_004260.4(RECQL4):c.1955T>G (p.Val652Gly) rs1167635927
NM_004260.4(RECQL4):c.1957G>A (p.Ala653Thr) rs1339042314
NM_004260.4(RECQL4):c.1958C>A (p.Ala653Glu)
NM_004260.4(RECQL4):c.1958C>G (p.Ala653Gly) rs1478522762
NM_004260.4(RECQL4):c.1958C>T (p.Ala653Val) rs1478522762
NM_004260.4(RECQL4):c.1964A>C (p.His655Pro) rs2130691445
NM_004260.4(RECQL4):c.1965C>G (p.His655Gln)
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser) rs993147176
NM_004260.4(RECQL4):c.1969_2017delinsC (p.Ala657_Asn673delinsHis) rs1827771929
NM_004260.4(RECQL4):c.1976C>T (p.Ala659Val) rs1336325647
NM_004260.4(RECQL4):c.1978G>C (p.Glu660Gln)
NM_004260.4(RECQL4):c.1979A>T (p.Glu660Val)
NM_004260.4(RECQL4):c.197C>G (p.Pro66Arg)
NM_004260.4(RECQL4):c.1981G>C (p.Glu661Gln) rs775332504
NM_004260.4(RECQL4):c.1984C>G (p.Pro662Ala) rs1827777139
NM_004260.4(RECQL4):c.1984C>T (p.Pro662Ser) rs1827777139
NM_004260.4(RECQL4):c.1985C>A (p.Pro662His) rs1586808386
NM_004260.4(RECQL4):c.1985C>T (p.Pro662Leu) rs1586808386
NM_004260.4(RECQL4):c.1990C>T (p.Leu664Phe)
NM_004260.4(RECQL4):c.1994A>C (p.His665Pro)
NM_004260.4(RECQL4):c.1994A>G (p.His665Arg) rs1554899274
NM_004260.4(RECQL4):c.1995C>G (p.His665Gln) rs759235313
NM_004260.4(RECQL4):c.1996G>C (p.Gly666Arg)
NM_004260.4(RECQL4):c.1999C>T (p.Pro667Ser)
NM_004260.4(RECQL4):c.199G>A (p.Ala67Thr) rs1815343882
NM_004260.4(RECQL4):c.199G>T (p.Ala67Ser) rs1815343882
NM_004260.4(RECQL4):c.2000C>T (p.Pro667Leu) rs1420577458
NM_004260.4(RECQL4):c.2002G>A (p.Ala668Thr)
NM_004260.4(RECQL4):c.2003C>A (p.Ala668Asp) rs865819673
NM_004260.4(RECQL4):c.2005C>T (p.Pro669Ser) rs888214723
NM_004260.4(RECQL4):c.2006C>G (p.Pro669Arg)
NM_004260.4(RECQL4):c.2006C>T (p.Pro669Leu)
NM_004260.4(RECQL4):c.2008G>T (p.Val670Phe) rs1484366007
NM_004260.4(RECQL4):c.200C>T (p.Ala67Val)
NM_004260.4(RECQL4):c.2011C>A (p.Pro671Thr)
NM_004260.4(RECQL4):c.2011C>G (p.Pro671Ala) rs1256215770
NM_004260.4(RECQL4):c.2011C>T (p.Pro671Ser) rs1256215770
NM_004260.4(RECQL4):c.2012C>G (p.Pro671Arg) rs889029109
NM_004260.4(RECQL4):c.2012CCA[1] (p.Thr672del) rs1827771729
NM_004260.4(RECQL4):c.2015C>T (p.Thr672Ile) rs772696526
NM_004260.4(RECQL4):c.2017A>T (p.Asn673Tyr)
NM_004260.4(RECQL4):c.2023C>T (p.His675Tyr) rs1564797690
NM_004260.4(RECQL4):c.2025C>A (p.His675Gln) rs779458343
NM_004260.4(RECQL4):c.2027T>C (p.Leu676Pro) rs2130690448
NM_004260.4(RECQL4):c.202G>A (p.Ala68Thr) rs1222240717
NM_004260.4(RECQL4):c.2030C>T (p.Ser677Phe)
NM_004260.4(RECQL4):c.2032G>C (p.Val678Leu) rs780282337
NM_004260.4(RECQL4):c.2035T>C (p.Ser679Pro)
NM_004260.4(RECQL4):c.2036C>G (p.Ser679Cys)
NM_004260.4(RECQL4):c.203C>T (p.Ala68Val) rs2130740261
NM_004260.4(RECQL4):c.2040G>A (p.Met680Ile) rs1474548278
NM_004260.4(RECQL4):c.2041G>C (p.Asp681His) rs1586807847
NM_004260.4(RECQL4):c.2041G>T (p.Asp681Tyr) rs1586807847
NM_004260.4(RECQL4):c.2044A>G (p.Arg682Gly) rs1455596790
NM_004260.4(RECQL4):c.2045G>A (p.Arg682Lys)
NM_004260.4(RECQL4):c.2048A>G (p.Asp683Gly) rs1827765739
NM_004260.4(RECQL4):c.2050A>C (p.Thr684Pro) rs1483958590
NM_004260.4(RECQL4):c.2050A>G (p.Thr684Ala) rs1483958590
NM_004260.4(RECQL4):c.2053G>C (p.Asp685His)
NM_004260.4(RECQL4):c.2055C>G (p.Asp685Glu)
NM_004260.4(RECQL4):c.2057A>C (p.Gln686Pro)
NM_004260.4(RECQL4):c.2058+3G>A rs1554899156
NM_004260.4(RECQL4):c.2058+4G>C
NM_004260.4(RECQL4):c.2058+5G>C rs1041802349
NM_004260.4(RECQL4):c.2058G>C (p.Gln686His)
NM_004260.4(RECQL4):c.2059-10_2069dup rs1554898831
NM_004260.4(RECQL4):c.2059-34_2059-5dup
NM_004260.4(RECQL4):c.2059-3C>T
NM_004260.4(RECQL4):c.205G>A (p.Ala69Thr) rs2130740225
NM_004260.4(RECQL4):c.2060C>G (p.Ala687Gly) rs1204590426
NM_004260.4(RECQL4):c.2063T>C (p.Leu688Pro) rs1315661208
NM_004260.4(RECQL4):c.2063T>G (p.Leu688Arg)
NM_004260.4(RECQL4):c.2068A>T (p.Thr690Ser) rs1246782381
NM_004260.4(RECQL4):c.206C>A (p.Ala69Asp) rs768035751
NM_004260.4(RECQL4):c.206C>G (p.Ala69Gly) rs768035751
NM_004260.4(RECQL4):c.206C>T (p.Ala69Val) rs768035751
NM_004260.4(RECQL4):c.2071C>G (p.Leu691Val) rs1330868114
NM_004260.4(RECQL4):c.2073G>T (p.Leu691=)
NM_004260.4(RECQL4):c.2075T>G (p.Leu692Arg)
NM_004260.4(RECQL4):c.2078A>C (p.Gln693Pro)
NM_004260.4(RECQL4):c.2078A>G (p.Gln693Arg)
NM_004260.4(RECQL4):c.2079A>G (p.Gln693=)
NM_004260.4(RECQL4):c.2080G>A (p.Gly694Ser) rs750118023
NM_004260.4(RECQL4):c.2081G>A (p.Gly694Asp) rs887964523
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.2087G>T (p.Arg696Leu)
NM_004260.4(RECQL4):c.208G>A (p.Glu70Lys) rs1404280214
NM_004260.4(RECQL4):c.2091T>A (p.Phe697Leu)
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.4(RECQL4):c.2093A>G (p.Gln698Arg) rs1827683274
NM_004260.4(RECQL4):c.2094A>C (p.Gln698His)
NM_004260.4(RECQL4):c.2096A>C (p.Asn699Thr) rs1827683037
NM_004260.4(RECQL4):c.2097C>G (p.Asn699Lys) rs896790337
NM_004260.4(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.4(RECQL4):c.2101G>T (p.Asp701Tyr)
NM_004260.4(RECQL4):c.2102A>G (p.Asp701Gly) rs2130684119
NM_004260.4(RECQL4):c.2104T>A (p.Ser702Thr) rs1827681779
NM_004260.4(RECQL4):c.2105C>G (p.Ser702Cys) rs1320752740
NM_004260.4(RECQL4):c.2108T>A (p.Ile703Asn) rs2130684034
NM_004260.4(RECQL4):c.2109T>G (p.Ile703Met) rs759753484
NM_004260.4(RECQL4):c.2112_2114del (p.Ile705del) rs770270259
NM_004260.4(RECQL4):c.2113A>C (p.Ile705Leu) rs374262706
NM_004260.4(RECQL4):c.2116T>A (p.Tyr706Asn) rs1827677165
NM_004260.4(RECQL4):c.2122A>G (p.Asn708Asp) rs2130683818
NM_004260.4(RECQL4):c.2123A>G (p.Asn708Ser) rs1564796315
NM_004260.4(RECQL4):c.2123A>T (p.Asn708Ile) rs1564796315
NM_004260.4(RECQL4):c.2124C>A (p.Asn708Lys) rs749266091
NM_004260.4(RECQL4):c.2124C>G (p.Asn708Lys) rs749266091
NM_004260.4(RECQL4):c.2125C>G (p.Arg709Gly) rs199562131
NM_004260.4(RECQL4):c.2127_2128delinsCT (p.Arg710Cys)
NM_004260.4(RECQL4):c.2128_2145dup (p.Arg715_Ile716insArgGluAspThrGluArg)
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.213+13C>A
NM_004260.4(RECQL4):c.213+4C>A
NM_004260.4(RECQL4):c.213+6C>T rs1554904641
NM_004260.4(RECQL4):c.2136C>G (p.Asp712Glu) rs377493345
NM_004260.4(RECQL4):c.2137A>C (p.Thr713Pro) rs760077772
NM_004260.4(RECQL4):c.2137A>G (p.Thr713Ala)
NM_004260.4(RECQL4):c.213G>A (p.Glu71=) rs1564811591
NM_004260.4(RECQL4):c.213G>C (p.Glu71Asp) rs1564811591
NM_004260.4(RECQL4):c.213_213+2dup rs1815339349
NM_004260.4(RECQL4):c.214-16_214-15del
NM_004260.4(RECQL4):c.214-3C>T rs367849648
NM_004260.4(RECQL4):c.2140G>A (p.Glu714Lys) rs776931639
NM_004260.4(RECQL4):c.2143C>G (p.Arg715Gly) rs373292946
NM_004260.4(RECQL4):c.2146A>C (p.Ile716Leu) rs1331893787
NM_004260.4(RECQL4):c.2146A>G (p.Ile716Val) rs1331893787
NM_004260.4(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.4(RECQL4):c.2149G>C (p.Ala717Pro) rs970075256
NM_004260.4(RECQL4):c.214G>A (p.Ala72Thr)
NM_004260.4(RECQL4):c.214G>C (p.Ala72Pro)
NM_004260.4(RECQL4):c.214G>T (p.Ala72Ser) rs1815258229
NM_004260.4(RECQL4):c.2150C>T (p.Ala717Val) rs775509164
NM_004260.4(RECQL4):c.2152G>A (p.Ala718Thr) rs1586804739
NM_004260.4(RECQL4):c.2156T>A (p.Leu719His) rs1827665831
NM_004260.4(RECQL4):c.2161C>G (p.Arg721Gly) rs746691436
NM_004260.4(RECQL4):c.2162G>C (p.Arg721Pro)
NM_004260.4(RECQL4):c.2164A>G (p.Thr722Ala)
NM_004260.4(RECQL4):c.2165C>G (p.Thr722Ser) rs985482776
NM_004260.4(RECQL4):c.2165C>T (p.Thr722Ile)
NM_004260.4(RECQL4):c.2168G>A (p.Cys723Tyr)
NM_004260.4(RECQL4):c.2173C>T (p.His725Tyr) rs1827661449
NM_004260.4(RECQL4):c.2177C>T (p.Ala726Val) rs2130682790
NM_004260.4(RECQL4):c.2179G>A (p.Ala727Thr) rs773424301
NM_004260.4(RECQL4):c.2179G>T (p.Ala727Ser) rs773424301
NM_004260.4(RECQL4):c.217C>G (p.Pro73Ala)
NM_004260.4(RECQL4):c.2180C>T (p.Ala727Val) rs1827659174
NM_004260.4(RECQL4):c.2185G>C (p.Val729Leu) rs376141829
NM_004260.4(RECQL4):c.2188C>T (p.Pro730Ser) rs1209776908
NM_004260.4(RECQL4):c.2189C>T (p.Pro730Leu) rs1554898674
NM_004260.4(RECQL4):c.218C>G (p.Pro73Arg) rs1815256853
NM_004260.4(RECQL4):c.218C>T (p.Pro73Leu)
NM_004260.4(RECQL4):c.2192G>A (p.Gly731Glu) rs762080821
NM_004260.4(RECQL4):c.2192G>C (p.Gly731Ala) rs762080821
NM_004260.4(RECQL4):c.2193G>T (p.Gly731=)
NM_004260.4(RECQL4):c.2194T>C (p.Ser732Pro) rs2130682486
NM_004260.4(RECQL4):c.2195C>G (p.Ser732Cys) rs1060501366
NM_004260.4(RECQL4):c.2195C>T (p.Ser732Phe) rs1060501366
NM_004260.4(RECQL4):c.2198G>C (p.Gly733Ala) rs1060501359
NM_004260.4(RECQL4):c.2200+4C>A rs776670526
NM_004260.4(RECQL4):c.2200+6G>C rs2130682284
NM_004260.4(RECQL4):c.2200+6G>T rs2130682284
NM_004260.4(RECQL4):c.2200+7C>T rs2130682268
NM_004260.4(RECQL4):c.2200G>A (p.Gly734Ser)
NM_004260.4(RECQL4):c.2201-3A>G rs1554898541
NM_004260.4(RECQL4):c.2201G>A (p.Gly734Asp)
NM_004260.4(RECQL4):c.2203_2205del (p.Arg735del) rs1827640804
NM_004260.4(RECQL4):c.2204G>C (p.Arg735Pro) rs773155492
NM_004260.4(RECQL4):c.2204G>T (p.Arg735Leu) rs773155492
NM_004260.4(RECQL4):c.2206G>A (p.Ala736Thr) rs864309583
NM_004260.4(RECQL4):c.2207C>T (p.Ala736Val) rs771790911
NM_004260.4(RECQL4):c.2210C>A (p.Pro737His)
NM_004260.4(RECQL4):c.2210C>G (p.Pro737Arg)
NM_004260.4(RECQL4):c.2213A>G (p.Lys738Arg)
NM_004260.4(RECQL4):c.2218A>G (p.Thr740Ala) rs1586803619
NM_004260.4(RECQL4):c.221_283del (p.Glu74_Pro94del) rs2130735614
NM_004260.4(RECQL4):c.2221G>A (p.Ala741Thr) rs748933048
NM_004260.4(RECQL4):c.2221G>C (p.Ala741Pro)
NM_004260.4(RECQL4):c.2228C>A (p.Ala743Asp) rs781675349
NM_004260.4(RECQL4):c.2228C>G (p.Ala743Gly) rs781675349
NM_004260.4(RECQL4):c.2228C>T (p.Ala743Val)
NM_004260.4(RECQL4):c.222G>C (p.Glu74Asp)
NM_004260.4(RECQL4):c.2231A>G (p.Tyr744Cys) rs757576880
NM_004260.4(RECQL4):c.2235C>A (p.His745Gln)
NM_004260.4(RECQL4):c.2237C>A (p.Ala746Glu) rs201883228
NM_004260.4(RECQL4):c.2237C>G (p.Ala746Gly) rs201883228
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2241C>T (p.Gly747=) rs957407351
NM_004260.4(RECQL4):c.2242A>C (p.Met748Leu)
NM_004260.4(RECQL4):c.2243T>C (p.Met748Thr) rs2130680231
NM_004260.4(RECQL4):c.2245T>C (p.Cys749Arg) rs1564795333
NM_004260.4(RECQL4):c.2246G>A (p.Cys749Tyr) rs1586803374
NM_004260.4(RECQL4):c.2249G>A (p.Ser750Asn)
NM_004260.4(RECQL4):c.2249G>T (p.Ser750Ile)
NM_004260.4(RECQL4):c.224C>T (p.Pro75Leu) rs943035311
NM_004260.4(RECQL4):c.2250C>G (p.Ser750Arg) rs761639839
NM_004260.4(RECQL4):c.2254G>A (p.Glu752Lys) rs1586803311
NM_004260.4(RECQL4):c.2257CGG[2] (p.Arg755del) rs751765974
NM_004260.4(RECQL4):c.2263C>T (p.Arg755Trp) rs1269867447
NM_004260.4(RECQL4):c.2266G>A (p.Val756Ile) rs1319987748
NM_004260.4(RECQL4):c.2266G>T (p.Val756Leu)
NM_004260.4(RECQL4):c.226C>A (p.Arg76Ser)
NM_004260.4(RECQL4):c.226C>T (p.Arg76Cys) rs1815254850
NM_004260.4(RECQL4):c.2270A>G (p.Gln757Arg) rs1827629600
NM_004260.4(RECQL4):c.2272C>G (p.Arg758Gly) rs758790200
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) rs748416710
NM_004260.4(RECQL4):c.2276C>A (p.Ala759Asp)
NM_004260.4(RECQL4):c.2276C>T (p.Ala759Val) rs1586803103
NM_004260.4(RECQL4):c.2282T>C (p.Met761Thr) rs1586803043
NM_004260.4(RECQL4):c.2287G>A (p.Gly763Ser)
NM_004260.4(RECQL4):c.2287G>C (p.Gly763Arg)
NM_004260.4(RECQL4):c.2291A>G (p.Gln764Arg)
NM_004260.4(RECQL4):c.2293T>G (p.Leu765Val)
NM_004260.4(RECQL4):c.229T>G (p.Cys77Gly) rs2130736466
NM_004260.4(RECQL4):c.2302G>C (p.Val768Leu) rs1827623151
NM_004260.4(RECQL4):c.2303T>G (p.Val768Gly) rs370863264
NM_004260.4(RECQL4):c.2305G>A (p.Val769Met)
NM_004260.4(RECQL4):c.2306T>C (p.Val769Ala) rs1827622405
NM_004260.4(RECQL4):c.2309C>T (p.Ala770Val)
NM_004260.4(RECQL4):c.230G>T (p.Cys77Phe) rs373705170
NM_004260.4(RECQL4):c.2312C>A (p.Thr771Lys) rs770327474
NM_004260.4(RECQL4):c.2315T>C (p.Val772Ala) rs773819025
NM_004260.4(RECQL4):c.2317G>A (p.Ala773Thr) rs1385567680
NM_004260.4(RECQL4):c.2317G>C (p.Ala773Pro)
NM_004260.4(RECQL4):c.2317_2318delinsTT (p.Ala773Phe) rs1564794977
NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val) rs772573389
NM_004260.4(RECQL4):c.2323G>A (p.Gly775Arg) rs2130678662
NM_004260.4(RECQL4):c.2324G>T (p.Gly775Val)
NM_004260.4(RECQL4):c.2326A>G (p.Met776Val) rs1406170971
NM_004260.4(RECQL4):c.2326_2334del (p.Met776_Leu778del)
NM_004260.4(RECQL4):c.2327T>C (p.Met776Thr) rs1554898312
NM_004260.4(RECQL4):c.2329G>A (p.Gly777Arg) rs377173936
NM_004260.4(RECQL4):c.2329G>C (p.Gly777Arg)
NM_004260.4(RECQL4):c.232T>G (p.Trp78Gly) rs768539707
NM_004260.4(RECQL4):c.2330G>A (p.Gly777Glu) rs768986171
NM_004260.4(RECQL4):c.2330G>C (p.Gly777Ala) rs768986171
NM_004260.4(RECQL4):c.2335G>T (p.Asp779Tyr) rs780228802
NM_004260.4(RECQL4):c.2336A>G (p.Asp779Gly) rs2130678409
NM_004260.4(RECQL4):c.2338C>G (p.Arg780Gly) rs372741479
NM_004260.4(RECQL4):c.2339G>A (p.Arg780Gln) rs369488194
NM_004260.4(RECQL4):c.2339G>T (p.Arg780Leu) rs369488194
NM_004260.4(RECQL4):c.2341C>G (p.Pro781Ala)
NM_004260.4(RECQL4):c.2341C>T (p.Pro781Ser) rs1490845255
NM_004260.4(RECQL4):c.2342C>G (p.Pro781Arg)
NM_004260.4(RECQL4):c.2345A>G (p.Asp782Gly)
NM_004260.4(RECQL4):c.2348T>C (p.Val783Ala) rs764988329
NM_004260.4(RECQL4):c.2350C>G (p.Arg784Gly)
NM_004260.4(RECQL4):c.2351G>C (p.Arg784Pro) rs536096413
NM_004260.4(RECQL4):c.2353G>A (p.Ala785Thr) rs1060501362
NM_004260.4(RECQL4):c.2354C>A (p.Ala785Asp)
NM_004260.4(RECQL4):c.2354C>T (p.Ala785Val) rs1827614027
NM_004260.4(RECQL4):c.2357T>G (p.Val786Gly) rs990445273
NM_004260.4(RECQL4):c.2358_2359insACA (p.Val786_Leu787insThr)
NM_004260.4(RECQL4):c.2359C>G (p.Leu787Val) rs1827613025
NM_004260.4(RECQL4):c.235G>A (p.Gly79Arg)
NM_004260.4(RECQL4):c.2360T>C (p.Leu787Pro) rs760041795
NM_004260.4(RECQL4):c.2360T>G (p.Leu787Arg)
NM_004260.4(RECQL4):c.2362C>A (p.His788Asn) rs773864273
NM_004260.4(RECQL4):c.2362C>T (p.His788Tyr) rs773864273
NM_004260.4(RECQL4):c.2364T>G (p.His788Gln) rs1410031368
NM_004260.4(RECQL4):c.2365C>G (p.Leu789Val) rs2130677910
NM_004260.4(RECQL4):c.2368G>A (p.Gly790Arg)
NM_004260.4(RECQL4):c.2369G>A (p.Gly790Glu)
NM_004260.4(RECQL4):c.236G>T (p.Gly79Val) rs1173220801
NM_004260.4(RECQL4):c.2371C>A (p.Leu791Met) rs1240837003
NM_004260.4(RECQL4):c.2372T>C (p.Leu791Pro) rs774894142
NM_004260.4(RECQL4):c.2374C>T (p.Pro792Ser)
NM_004260.4(RECQL4):c.2378C>G (p.Pro793Arg)
NM_004260.4(RECQL4):c.2384T>C (p.Phe795Ser) rs1827608208
NM_004260.4(RECQL4):c.2385C>A (p.Phe795Leu) rs587778644
NM_004260.4(RECQL4):c.2385C>G (p.Phe795Leu) rs587778644
NM_004260.4(RECQL4):c.2388G>C (p.Glu796Asp)
NM_004260.4(RECQL4):c.238C>T (p.Pro80Ser) rs1815251986
NM_004260.4(RECQL4):c.2392T>C (p.Tyr798His)
NM_004260.4(RECQL4):c.2395G>C (p.Val799Leu)
NM_004260.4(RECQL4):c.2398C>G (p.Gln800Glu) rs1206089987
NM_004260.4(RECQL4):c.2401G>A (p.Ala801Thr) rs994146252
NM_004260.4(RECQL4):c.2401G>C (p.Ala801Pro) rs994146252
NM_004260.4(RECQL4):c.2408G>A (p.Gly803Asp)
NM_004260.4(RECQL4):c.2414C>A (p.Ala805Asp) rs765894032
NM_004260.4(RECQL4):c.2417G>C (p.Gly806Ala) rs762456224
NM_004260.4(RECQL4):c.2418_2419delinsAG (p.Arg807Gly) rs1827602475
NM_004260.4(RECQL4):c.241C>A (p.His81Asn)
NM_004260.4(RECQL4):c.241C>T (p.His81Tyr)
NM_004260.4(RECQL4):c.2420G>C (p.Arg807Pro) rs571684398
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) rs1423500226
NM_004260.4(RECQL4):c.2429_2431del (p.Gln810del) rs2130676571
NM_004260.4(RECQL4):c.242A>G (p.His81Arg) rs1478497967
NM_004260.4(RECQL4):c.243T>G (p.His81Gln) rs1423806349
NM_004260.4(RECQL4):c.2441G>A (p.Cys814Tyr) rs1827598421
NM_004260.4(RECQL4):c.2443C>T (p.His815Tyr) rs1060501371
NM_004260.4(RECQL4):c.2449T>A (p.Phe817Ile) rs1364205283
NM_004260.4(RECQL4):c.244C>G (p.Leu82Val) rs749101720
NM_004260.4(RECQL4):c.2451C>A (p.Phe817Leu) rs778652987
NM_004260.4(RECQL4):c.2453T>C (p.Leu818Pro)
NM_004260.4(RECQL4):c.2455C>G (p.Gln819Glu) rs2130676259
NM_004260.4(RECQL4):c.2456A>C (p.Gln819Pro) rs1467362119
NM_004260.4(RECQL4):c.2457G>T (p.Gln819His)
NM_004260.4(RECQL4):c.2458C>G (p.Pro820Ala) rs1827596130
NM_004260.4(RECQL4):c.2458_2463del (p.Pro820_Gln821del) rs1247860633
NM_004260.4(RECQL4):c.2459C>T (p.Pro820Leu) rs749090018
NM_004260.4(RECQL4):c.2463+5G>A rs1264630646
NM_004260.4(RECQL4):c.2463G>C (p.Gln821His)
NM_004260.4(RECQL4):c.2464G>A (p.Gly822Ser)
NM_004260.4(RECQL4):c.2465G>A (p.Gly822Asp)
NM_004260.4(RECQL4):c.2465G>C (p.Gly822Ala)
NM_004260.4(RECQL4):c.2468A>G (p.Glu823Gly) rs2130674107
NM_004260.4(RECQL4):c.2470G>A (p.Asp824Asn) rs901313954
NM_004260.4(RECQL4):c.2471A>T (p.Asp824Val)
NM_004260.4(RECQL4):c.2472_2480del (p.Asp824_Arg826del) rs2130673898
NM_004260.4(RECQL4):c.2474T>C (p.Leu825Pro) rs1286406860
NM_004260.4(RECQL4):c.2474_2476del (p.Leu825del) rs2130673988
NM_004260.4(RECQL4):c.2476C>G (p.Arg826Gly) rs386833851
NM_004260.4(RECQL4):c.2477G>C (p.Arg826Pro) rs770800467
NM_004260.4(RECQL4):c.2477G>T (p.Arg826Leu) rs770800467
NM_004260.4(RECQL4):c.2479G>C (p.Glu827Gln)
NM_004260.4(RECQL4):c.2480A>G (p.Glu827Gly) rs1827567523
NM_004260.4(RECQL4):c.2483T>A (p.Leu828Gln) rs891542221
NM_004260.4(RECQL4):c.2483T>C (p.Leu828Pro)
NM_004260.4(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.4(RECQL4):c.2488A>G (p.Arg830Gly)
NM_004260.4(RECQL4):c.2489G>C (p.Arg830Thr) rs747748330
NM_004260.4(RECQL4):c.2492A>C (p.His831Pro) rs754324912
NM_004260.4(RECQL4):c.2497C>G (p.His833Asp) rs2130673512
NM_004260.4(RECQL4):c.2497C>T (p.His833Tyr)
NM_004260.4(RECQL4):c.2498A>G (p.His833Arg)
NM_004260.4(RECQL4):c.2499C>G (p.His833Gln)
NM_004260.4(RECQL4):c.2504A>C (p.Asp835Ala)
NM_004260.4(RECQL4):c.2507G>A (p.Ser836Asn) rs1827562066
NM_004260.4(RECQL4):c.2513A>G (p.Asp838Gly) rs1317677692
NM_004260.4(RECQL4):c.2515T>C (p.Phe839Leu) rs1827560416
NM_004260.4(RECQL4):c.2516T>C (p.Phe839Ser)
NM_004260.4(RECQL4):c.2517C>G (p.Phe839Leu)
NM_004260.4(RECQL4):c.2518C>G (p.Leu840Val) rs201106179
NM_004260.4(RECQL4):c.2519T>A (p.Leu840Gln) rs773904395
NM_004260.4(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.4(RECQL4):c.2521G>A (p.Ala841Thr)
NM_004260.4(RECQL4):c.2521G>C (p.Ala841Pro)
NM_004260.4(RECQL4):c.2521G>T (p.Ala841Ser)
NM_004260.4(RECQL4):c.2529G>T (p.Lys843Asn) rs1554897835
NM_004260.4(RECQL4):c.2532_2533delinsTT (p.Arg844Ser) rs2130672839
NM_004260.4(RECQL4):c.2536G>A (p.Val846Ile)
NM_004260.4(RECQL4):c.2537T>C (p.Val846Ala) rs756449897
NM_004260.4(RECQL4):c.2542C>G (p.Arg848Gly) rs757540549
NM_004260.4(RECQL4):c.2545G>C (p.Val849Leu) rs201661055
NM_004260.4(RECQL4):c.2545G>T (p.Val849Leu) rs201661055
NM_004260.4(RECQL4):c.2549T>C (p.Phe850Ser) rs2130672533
NM_004260.4(RECQL4):c.254C>G (p.Ala85Gly) rs756838362
NM_004260.4(RECQL4):c.254C>T (p.Ala85Val) rs756838362
NM_004260.4(RECQL4):c.2550C>A (p.Phe850Leu) rs1363197248
NM_004260.4(RECQL4):c.2550C>G (p.Phe850Leu) rs1363197248
NM_004260.4(RECQL4):c.2554G>A (p.Ala852Thr)
NM_004260.4(RECQL4):c.2557TGCACC[5] (p.853CT[5]) rs548804317
NM_004260.4(RECQL4):c.2560_2561insACTGCA (p.Cys853_Thr854insAsnCys) rs2130672276
NM_004260.4(RECQL4):c.2561C>G (p.Thr854Ser)
NM_004260.4(RECQL4):c.2561C>T (p.Thr854Ile) rs1167531855
NM_004260.4(RECQL4):c.2563T>A (p.Cys855Ser)
NM_004260.4(RECQL4):c.2564G>C (p.Cys855Ser)
NM_004260.4(RECQL4):c.2567C>T (p.Thr856Ile) rs1827549635
NM_004260.4(RECQL4):c.2569T>G (p.Cys857Gly)
NM_004260.4(RECQL4):c.256G>A (p.Ala86Thr) rs2130736069
NM_004260.4(RECQL4):c.2571_2576del (p.Cys857_Arg859delinsTrp)
NM_004260.4(RECQL4):c.2572A>G (p.Thr858Ala) rs1586799711
NM_004260.4(RECQL4):c.2573C>G (p.Thr858Ser) rs965539808
NM_004260.4(RECQL4):c.2573C>T (p.Thr858Ile)
NM_004260.4(RECQL4):c.2576G>A (p.Arg859Lys)
NM_004260.4(RECQL4):c.2576G>C (p.Arg859Thr)
NM_004260.4(RECQL4):c.2579C>G (p.Pro860Arg) rs774850992
NM_004260.4(RECQL4):c.257C>G (p.Ala86Gly) rs1207989827
NM_004260.4(RECQL4):c.257C>T (p.Ala86Val)
NM_004260.4(RECQL4):c.2584T>A (p.Ser862Thr)
NM_004260.4(RECQL4):c.2590C>A (p.Gln864Lys) rs1054186954
NM_004260.4(RECQL4):c.2594A>C (p.Glu865Ala)
NM_004260.4(RECQL4):c.2594A>G (p.Glu865Gly) rs1827541741
NM_004260.4(RECQL4):c.2594A>T (p.Glu865Val)
NM_004260.4(RECQL4):c.2597G>A (p.Gly866Glu) rs1827541354
NM_004260.4(RECQL4):c.2598G>A (p.Gly866=)
NM_004260.4(RECQL4):c.2599G>A (p.Ala867Thr) rs1000281324
NM_004260.4(RECQL4):c.2600C>T (p.Ala867Val) rs2130671496
NM_004260.4(RECQL4):c.2603T>C (p.Val868Ala)
NM_004260.4(RECQL4):c.2609G>C (p.Gly870Ala) rs1827539195
NM_004260.4(RECQL4):c.2613G>C (p.Glu871Asp)
NM_004260.4(RECQL4):c.2615G>A (p.Arg872Lys) rs1827538570
NM_004260.4(RECQL4):c.2620G>A (p.Val874Met) rs1554897651
NM_004260.4(RECQL4):c.2620G>C (p.Val874Leu) rs1554897651
NM_004260.4(RECQL4):c.2623C>T (p.Pro875Ser)
NM_004260.4(RECQL4):c.2627A>G (p.Lys876Arg) rs2130671089
NM_004260.4(RECQL4):c.2628G>C (p.Lys876Asn) rs1195462139
NM_004260.4(RECQL4):c.262A>G (p.Lys88Glu)
NM_004260.4(RECQL4):c.2632C>A (p.Pro878Thr)
NM_004260.4(RECQL4):c.2636C>G (p.Pro879Arg)
NM_004260.4(RECQL4):c.2636C>T (p.Pro879Leu) rs137975310
NM_004260.4(RECQL4):c.2636_2638del (p.Pro879del)
NM_004260.4(RECQL4):c.2638C>A (p.Gln880Lys)
NM_004260.4(RECQL4):c.263A>G (p.Lys88Arg)
NM_004260.4(RECQL4):c.2641G>A (p.Glu881Lys) rs2130670791
NM_004260.4(RECQL4):c.2644G>A (p.Ala882Thr) rs771434161
NM_004260.4(RECQL4):c.2644G>T (p.Ala882Ser) rs771434161
NM_004260.4(RECQL4):c.2645C>T (p.Ala882Val)
NM_004260.4(RECQL4):c.2647G>C (p.Glu883Gln)
NM_004260.4(RECQL4):c.2648A>G (p.Glu883Gly) rs1305824852
NM_004260.4(RECQL4):c.2650C>G (p.Gln884Glu)
NM_004260.4(RECQL4):c.2654T>G (p.Leu885Arg)
NM_004260.4(RECQL4):c.2657G>A (p.Ser886Asn)
NM_004260.4(RECQL4):c.2661C>A (p.His887Gln) rs2130670528
NM_004260.4(RECQL4):c.2662C>G (p.Gln888Glu) rs1406641581
NM_004260.4(RECQL4):c.2663A>G (p.Gln888Arg) rs1564792721
NM_004260.4(RECQL4):c.2664A>C (p.Gln888His) rs779076624
NM_004260.4(RECQL4):c.2668G>T (p.Ala890Ser)
NM_004260.4(RECQL4):c.2669C>T (p.Ala890Val) rs1827530347
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn) rs372648595
NM_004260.4(RECQL4):c.266G>C (p.Ser89Thr) rs372648595
NM_004260.4(RECQL4):c.2671C>A (p.Pro891Thr) rs757175211
NM_004260.4(RECQL4):c.2671C>G (p.Pro891Ala) rs757175211
NM_004260.4(RECQL4):c.2672C>T (p.Pro891Leu) rs2130670349
NM_004260.4(RECQL4):c.2675G>A (p.Gly892Glu) rs1461172672
NM_004260.4(RECQL4):c.2677C>G (p.Pro893Ala) rs1264247879
NM_004260.4(RECQL4):c.2681G>A (p.Arg894Lys)
NM_004260.4(RECQL4):c.2681G>T (p.Arg894Ile)
NM_004260.4(RECQL4):c.2684G>C (p.Arg895Thr)
NM_004260.4(RECQL4):c.2685G>C (p.Arg895Ser) rs1259701902
NM_004260.4(RECQL4):c.2686G>A (p.Val896Ile) rs762644049
NM_004260.4(RECQL4):c.2690G>A (p.Cys897Tyr)
NM_004260.4(RECQL4):c.2693T>A (p.Met898Lys)
NM_004260.4(RECQL4):c.2695G>A (p.Gly899Ser)
NM_004260.4(RECQL4):c.2696G>A (p.Gly899Asp) rs1827524891
NM_004260.4(RECQL4):c.2698C>A (p.His900Asn)
NM_004260.4(RECQL4):c.2698C>T (p.His900Tyr)
NM_004260.4(RECQL4):c.2699A>T (p.His900Leu)
NM_004260.4(RECQL4):c.269C>T (p.Pro90Leu) rs758928559
NM_004260.4(RECQL4):c.2701G>A (p.Glu901Lys)
NM_004260.4(RECQL4):c.2702A>G (p.Glu901Gly) rs1827523235
NM_004260.4(RECQL4):c.2707G>A (p.Ala903Thr) rs1827522325
NM_004260.4(RECQL4):c.2708C>T (p.Ala903Val)
NM_004260.4(RECQL4):c.2710C>G (p.Leu904Val)
NM_004260.4(RECQL4):c.2710C>T (p.Leu904Phe) rs748437594
NM_004260.4(RECQL4):c.2713C>G (p.Pro905Ala)
NM_004260.4(RECQL4):c.2713C>T (p.Pro905Ser) rs778939539
NM_004260.4(RECQL4):c.2714C>T (p.Pro905Leu) rs768797926
NM_004260.4(RECQL4):c.2716A>G (p.Ile906Val) rs1261656954
NM_004260.4(RECQL4):c.2717T>A (p.Ile906Lys)
NM_004260.4(RECQL4):c.2718A>G (p.Ile906Met)
NM_004260.4(RECQL4):c.2720A>G (p.Gln907Arg) rs1827518669
NM_004260.4(RECQL4):c.2721G>C (p.Gln907His)
NM_004260.4(RECQL4):c.2722C>G (p.Leu908Val)
NM_004260.4(RECQL4):c.2723T>C (p.Leu908Pro) rs1244850943
NM_004260.4(RECQL4):c.2725A>G (p.Thr909Ala) rs1564792382
NM_004260.4(RECQL4):c.2726C>T (p.Thr909Ile) rs1586798501
NM_004260.4(RECQL4):c.2730_2732del (p.Gln911del)
NM_004260.4(RECQL4):c.2734G>A (p.Ala912Thr)
NM_004260.4(RECQL4):c.2735C>G (p.Ala912Gly) rs752408076
NM_004260.4(RECQL4):c.2739G>C (p.Leu913Phe)
NM_004260.4(RECQL4):c.2739G>T (p.Leu913Phe)
NM_004260.4(RECQL4):c.2740G>A (p.Asp914Asn) rs371327041
NM_004260.4(RECQL4):c.2740G>C (p.Asp914His) rs371327041
NM_004260.4(RECQL4):c.2744T>C (p.Met915Thr) rs1165798216
NM_004260.4(RECQL4):c.2746C>A (p.Pro916Thr)
NM_004260.4(RECQL4):c.2746C>T (p.Pro916Ser) rs1827511034
NM_004260.4(RECQL4):c.2747C>A (p.Pro916Gln)
NM_004260.4(RECQL4):c.274_275delinsCG (p.Ser92Arg)
NM_004260.4(RECQL4):c.2750A>G (p.Glu917Gly)
NM_004260.4(RECQL4):c.2750AGG[1] (p.Glu918del) rs755113079
NM_004260.4(RECQL4):c.2752G>A (p.Glu918Lys) rs762028333
NM_004260.4(RECQL4):c.2755+13G>C
NM_004260.4(RECQL4):c.2755+19G>A
NM_004260.4(RECQL4):c.2755+5G>A rs1280919842
NM_004260.4(RECQL4):c.2755+9C>G
NM_004260.4(RECQL4):c.2756-19_2756-13del
NM_004260.4(RECQL4):c.2756-23_2756-16del
NM_004260.4(RECQL4):c.2756-34_2756-8del
NM_004260.4(RECQL4):c.2756-5C>G rs541518527
NM_004260.4(RECQL4):c.2756-6C>G rs369289550
NM_004260.4(RECQL4):c.2760C>G (p.Ile920Met) rs752058642
NM_004260.4(RECQL4):c.2768T>C (p.Leu923Ser)
NM_004260.4(RECQL4):c.2769G>T (p.Leu923Phe) rs368618566
NM_004260.4(RECQL4):c.2771T>C (p.Leu924Pro) rs1827488371
NM_004260.4(RECQL4):c.2771T>G (p.Leu924Arg) rs1827488371
NM_004260.4(RECQL4):c.2775C>G (p.Cys925Trp) rs376838923
NM_004260.4(RECQL4):c.2776T>A (p.Tyr926Asn)
NM_004260.4(RECQL4):c.2776T>C (p.Tyr926His) rs1060501365
NM_004260.4(RECQL4):c.2777A>G (p.Tyr926Cys) rs1280395082
NM_004260.4(RECQL4):c.2779C>G (p.Leu927Val) rs372304382
NM_004260.4(RECQL4):c.277A>G (p.Thr93Ala) rs1815241311
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg) rs774274636
NM_004260.4(RECQL4):c.2784G>C (p.Glu928Asp) rs1827486203
NM_004260.4(RECQL4):c.2789A>G (p.His930Arg) rs1586797279
NM_004260.4(RECQL4):c.2789_2812del (p.His930_Leu937del) rs1827481798
NM_004260.4(RECQL4):c.2790C>G (p.His930Gln)
NM_004260.4(RECQL4):c.2791C>A (p.Pro931Thr)
NM_004260.4(RECQL4):c.2791C>G (p.Pro931Ala) rs768352855
NM_004260.4(RECQL4):c.2794C>T (p.His932Tyr) rs1554897279
NM_004260.4(RECQL4):c.2795A>G (p.His932Arg)
NM_004260.4(RECQL4):c.2796C>G (p.His932Gln) rs1827484697
NM_004260.4(RECQL4):c.2798A>G (p.His933Arg) rs1554897277
NM_004260.4(RECQL4):c.2799C>G (p.His933Gln)
NM_004260.4(RECQL4):c.2800T>C (p.Trp934Arg)
NM_004260.4(RECQL4):c.2800T>G (p.Trp934Gly) rs1827484063
NM_004260.4(RECQL4):c.2802G>C (p.Trp934Cys)
NM_004260.4(RECQL4):c.2803C>G (p.Leu935Val) rs745494721
NM_004260.4(RECQL4):c.2808G>C (p.Glu936Asp) rs1442521340
NM_004260.4(RECQL4):c.2809C>G (p.Leu937Val) rs1827482477
NM_004260.4(RECQL4):c.2816C>A (p.Ala939Glu) rs561220929
NM_004260.4(RECQL4):c.281C>T (p.Pro94Leu) rs1586830544
NM_004260.4(RECQL4):c.2822C>T (p.Thr941Ile) rs1060501368
NM_004260.4(RECQL4):c.2824T>C (p.Tyr942His) rs1827479492
NM_004260.4(RECQL4):c.2825A>C (p.Tyr942Ser) rs1586797102
NM_004260.4(RECQL4):c.2825A>G (p.Tyr942Cys)
NM_004260.4(RECQL4):c.2828C>T (p.Thr943Ile) rs1827478545
NM_004260.4(RECQL4):c.2832T>A (p.His944Gln) rs754047453
NM_004260.4(RECQL4):c.2833T>C (p.Cys945Arg)
NM_004260.4(RECQL4):c.2834G>A (p.Cys945Tyr) rs1554897223
NM_004260.4(RECQL4):c.2839C>G (p.Leu947Val)
NM_004260.4(RECQL4):c.283G>C (p.Gly95Arg) rs1564810489
NM_004260.4(RECQL4):c.2846G>T (p.Cys949Phe)
NM_004260.4(RECQL4):c.2849C>T (p.Pro950Leu)
NM_004260.4(RECQL4):c.284G>C (p.Gly95Ala) rs2130735581
NM_004260.4(RECQL4):c.2851G>A (p.Gly951Arg)
NM_004260.4(RECQL4):c.2852G>C (p.Gly951Ala)
NM_004260.4(RECQL4):c.2854G>A (p.Gly952Ser) rs2130666255
NM_004260.4(RECQL4):c.2857C>A (p.Pro953Thr)
NM_004260.4(RECQL4):c.2857C>G (p.Pro953Ala) rs2130666187
NM_004260.4(RECQL4):c.2858C>G (p.Pro953Arg)
NM_004260.4(RECQL4):c.2858C>T (p.Pro953Leu)
NM_004260.4(RECQL4):c.2860G>C (p.Ala954Pro) rs1564791493
NM_004260.4(RECQL4):c.2861C>A (p.Ala954Asp) rs746594220
NM_004260.4(RECQL4):c.2861C>T (p.Ala954Val) rs746594220
NM_004260.4(RECQL4):c.2864A>G (p.Gln955Arg) rs1827473213
NM_004260.4(RECQL4):c.2866C>T (p.Leu956Phe) rs1827472743
NM_004260.4(RECQL4):c.286C>T (p.Arg96Trp)
NM_004260.4(RECQL4):c.2870A>G (p.Gln957Arg)
NM_004260.4(RECQL4):c.2871G>C (p.Gln957His) rs548485975
NM_004260.4(RECQL4):c.2872G>A (p.Ala958Thr) rs1564791450
NM_004260.4(RECQL4):c.2872G>C (p.Ala958Pro) rs1564791450
NM_004260.4(RECQL4):c.2872_2873delinsTT (p.Ala958Phe) rs2130665884
NM_004260.4(RECQL4):c.2873C>G (p.Ala958Gly) rs758952928
NM_004260.4(RECQL4):c.2876T>C (p.Leu959Pro) rs1554897159
NM_004260.4(RECQL4):c.2876T>G (p.Leu959Arg) rs1554897159
NM_004260.4(RECQL4):c.2878G>T (p.Ala960Ser)
NM_004260.4(RECQL4):c.2879C>G (p.Ala960Gly) rs373651108
NM_004260.4(RECQL4):c.287G>A (p.Arg96Gln)
NM_004260.4(RECQL4):c.2880C>G (p.Ala960=) rs766684128
NM_004260.4(RECQL4):c.2885+5G>C
NM_004260.4(RECQL4):c.2885+6C>T rs1827466838
NM_004260.4(RECQL4):c.2885G>A (p.Arg962Lys) rs577462627
NM_004260.4(RECQL4):c.2886-3C>G rs765331236
NM_004260.4(RECQL4):c.2886-7G>A rs757341042
NM_004260.4(RECQL4):c.2886G>C (p.Arg962Ser)
NM_004260.4(RECQL4):c.2890C>T (p.Pro964Ser) rs33972310
NM_004260.4(RECQL4):c.2891C>G (p.Pro964Arg)
NM_004260.4(RECQL4):c.2891C>T (p.Pro964Leu)
NM_004260.4(RECQL4):c.2894C>A (p.Pro965His)
NM_004260.4(RECQL4):c.2894C>G (p.Pro965Arg)
NM_004260.4(RECQL4):c.2895T>G (p.Pro965=)
NM_004260.4(RECQL4):c.2899G>T (p.Ala967Ser) rs2130664179
NM_004260.4(RECQL4):c.2900C>G (p.Ala967Gly) rs1827447336
NM_004260.4(RECQL4):c.2901_2912del (p.Val968_Ala971del) rs1827445302
NM_004260.4(RECQL4):c.2902G>C (p.Val968Leu) rs1060501382
NM_004260.4(RECQL4):c.2903T>C (p.Val968Ala)
NM_004260.4(RECQL4):c.2904G>T (p.Val968=)
NM_004260.4(RECQL4):c.290G>A (p.Ser97Asn) rs773114060
NM_004260.4(RECQL4):c.291C>A (p.Ser97Arg) rs762806249
NM_004260.4(RECQL4):c.2920C>G (p.Leu974Val) rs1263288809
NM_004260.4(RECQL4):c.2924C>T (p.Pro975Leu) rs769194048
NM_004260.4(RECQL4):c.292C>T (p.Arg98Cys) rs2130735434
NM_004260.4(RECQL4):c.2931C>T (p.Asp977=)
NM_004260.4(RECQL4):c.2933C>T (p.Pro978Leu) rs746107365
NM_004260.4(RECQL4):c.2935G>A (p.Gly979Arg) rs587778645
NM_004260.4(RECQL4):c.2936G>A (p.Gly979Glu) rs1564790952
NM_004260.4(RECQL4):c.2939A>G (p.Gln980Arg)
NM_004260.4(RECQL4):c.293G>A (p.Arg98His)
NM_004260.4(RECQL4):c.293G>T (p.Arg98Leu) rs769634470
NM_004260.4(RECQL4):c.293_294delinsAA (p.Arg98Gln)
NM_004260.4(RECQL4):c.2941G>T (p.Gly981Cys) rs757541591
NM_004260.4(RECQL4):c.2941_2942insTTCCAA (p.Gly981delinsValProSer) rs776993029
NM_004260.4(RECQL4):c.2942G>A (p.Gly981Asp)
NM_004260.4(RECQL4):c.2944A>C (p.Ser982Arg) rs2130663507
NM_004260.4(RECQL4):c.2944A>G (p.Ser982Gly)
NM_004260.4(RECQL4):c.2945G>C (p.Ser982Thr) rs1158680101
NM_004260.4(RECQL4):c.2948G>A (p.Ser983Asn) rs1586795561
NM_004260.4(RECQL4):c.2950T>A (p.Ser984Thr)
NM_004260.4(RECQL4):c.2951C>A (p.Ser984Tyr)
NM_004260.4(RECQL4):c.2951C>T (p.Ser984Phe) rs777976493
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) rs200629599
NM_004260.4(RECQL4):c.2956G>A (p.Glu986Lys) rs1362276556
NM_004260.4(RECQL4):c.2957A>C (p.Glu986Ala)
NM_004260.4(RECQL4):c.2960T>G (p.Phe987Cys)
NM_004260.4(RECQL4):c.2961T>A (p.Phe987Leu) rs1060501363
NM_004260.4(RECQL4):c.2961T>G (p.Phe987Leu) rs1060501363
NM_004260.4(RECQL4):c.2962G>A (p.Asp988Asn) rs1554896950
NM_004260.4(RECQL4):c.2962G>T (p.Asp988Tyr) rs1554896950
NM_004260.4(RECQL4):c.2964C>G (p.Asp988Glu) rs1564790791
NM_004260.4(RECQL4):c.2966T>C (p.Met989Thr) rs767220757
NM_004260.4(RECQL4):c.296A>G (p.Gln99Arg) rs1586830416
NM_004260.4(RECQL4):c.2971A>G (p.Lys991Glu)
NM_004260.4(RECQL4):c.2974C>G (p.Leu992Val) rs1564790741
NM_004260.4(RECQL4):c.2978T>C (p.Val993Ala) rs2130662892
NM_004260.4(RECQL4):c.2978T>G (p.Val993Gly)
NM_004260.4(RECQL4):c.2980G>A (p.Asp994Asn) rs1827434628
NM_004260.4(RECQL4):c.2981A>C (p.Asp994Ala)
NM_004260.4(RECQL4):c.2988G>A (p.Met996Ile) rs1827433430
NM_004260.4(RECQL4):c.2989G>A (p.Gly997Ser) rs948234493
NM_004260.4(RECQL4):c.2995G>C (p.Glu999Gln)
NM_004260.4(RECQL4):c.2997G>T (p.Glu999Asp) rs902652277
NM_004260.4(RECQL4):c.299G>A (p.Gly100Asp) rs1815236076
NM_004260.4(RECQL4):c.3001G>A (p.Ala1001Thr)
NM_004260.4(RECQL4):c.3001G>C (p.Ala1001Pro) rs2130662576
NM_004260.4(RECQL4):c.3005C>T (p.Ser1002Phe)
NM_004260.4(RECQL4):c.3022T>A (p.Cys1008Ser)
NM_004260.4(RECQL4):c.3022T>C (p.Cys1008Arg) rs762312510
NM_004260.4(RECQL4):c.3023G>A (p.Cys1008Tyr) rs1564790487
NM_004260.4(RECQL4):c.3028C>G (p.Leu1010Val) rs1373023053
NM_004260.4(RECQL4):c.3029T>C (p.Leu1010Pro) rs1827424443
NM_004260.4(RECQL4):c.3034T>C (p.Trp1012Arg)
NM_004260.4(RECQL4):c.3037G>A (p.Asp1013Asn)
NM_004260.4(RECQL4):c.3037G>T (p.Asp1013Tyr)
NM_004260.4(RECQL4):c.3038A>C (p.Asp1013Ala) rs898859819
NM_004260.4(RECQL4):c.3040C>T (p.His1014Tyr) rs760096494
NM_004260.4(RECQL4):c.3040_3042del (p.His1014del) rs1827421175
NM_004260.4(RECQL4):c.3041A>C (p.His1014Pro)
NM_004260.4(RECQL4):c.3043G>C (p.Glu1015Gln) rs771381171
NM_004260.4(RECQL4):c.3046C>G (p.Pro1016Ala)
NM_004260.4(RECQL4):c.3046C>T (p.Pro1016Ser) rs1158975362
NM_004260.4(RECQL4):c.3050G>A (p.Arg1017Lys) rs1554896820
NM_004260.4(RECQL4):c.3050G>C (p.Arg1017Thr)
NM_004260.4(RECQL4):c.3055+3G>A
NM_004260.4(RECQL4):c.3055+5G>T
NM_004260.4(RECQL4):c.3056-7C>G
NM_004260.4(RECQL4):c.3056G>A (p.Gly1019Asp)
NM_004260.4(RECQL4):c.3058G>T (p.Val1020Leu)
NM_004260.4(RECQL4):c.305_310dup (p.Val102_Pro103dup) rs1362235551
NM_004260.4(RECQL4):c.3062G>C (p.Arg1021Pro) rs34666647
NM_004260.4(RECQL4):c.3062_3079dup (p.Arg1021_Val1026dup) rs1310379257
NM_004260.4(RECQL4):c.3065G>C (p.Arg1022Pro) rs560476442
NM_004260.4(RECQL4):c.3065G>T (p.Arg1022Leu) rs560476442
NM_004260.4(RECQL4):c.3067G>A (p.Gly1023Arg) rs1586793995
NM_004260.4(RECQL4):c.3067G>C (p.Gly1023Arg)
NM_004260.4(RECQL4):c.3068G>A (p.Gly1023Glu) rs764657835
NM_004260.4(RECQL4):c.3068G>C (p.Gly1023Ala) rs764657835
NM_004260.4(RECQL4):c.3070A>C (p.Thr1024Pro) rs1454305448
NM_004260.4(RECQL4):c.3070A>G (p.Thr1024Ala)
NM_004260.4(RECQL4):c.3071C>T (p.Thr1024Ile)
NM_004260.4(RECQL4):c.3076G>A (p.Val1026Met) rs370954099
NM_004260.4(RECQL4):c.3077T>A (p.Val1026Glu) rs1586793873
NM_004260.4(RECQL4):c.3078G>A (p.Val1026=)
NM_004260.4(RECQL4):c.307C>G (p.Pro103Ala) rs587778650
NM_004260.4(RECQL4):c.307C>T (p.Pro103Ser) rs587778650
NM_004260.4(RECQL4):c.3080T>C (p.Leu1027Pro) rs1827394535
NM_004260.4(RECQL4):c.3082G>C (p.Val1028Leu) rs1827394205
NM_004260.4(RECQL4):c.3083T>C (p.Val1028Ala) rs952414985
NM_004260.4(RECQL4):c.3083T>G (p.Val1028Gly) rs952414985
NM_004260.4(RECQL4):c.3086A>G (p.Glu1029Gly)
NM_004260.4(RECQL4):c.3087G>C (p.Glu1029Asp) rs767786765
NM_004260.4(RECQL4):c.3087G>T (p.Glu1029Asp) rs767786765
NM_004260.4(RECQL4):c.3090C>A (p.Phe1030Leu) rs767876394
NM_004260.4(RECQL4):c.3091A>G (p.Ser1031Gly) rs2130660092
NM_004260.4(RECQL4):c.3092G>C (p.Ser1031Thr) rs1307953192
NM_004260.4(RECQL4):c.3094G>A (p.Glu1032Lys) rs1249753953
NM_004260.4(RECQL4):c.3095A>G (p.Glu1032Gly)
NM_004260.4(RECQL4):c.3096G>C (p.Glu1032Asp) rs2130660032
NM_004260.4(RECQL4):c.3101C>A (p.Ala1034Asp)
NM_004260.4(RECQL4):c.3101C>G (p.Ala1034Gly)
NM_004260.4(RECQL4):c.3101C>T (p.Ala1034Val) rs1586793697
NM_004260.4(RECQL4):c.3105C>T (p.Phe1035=)
NM_004260.4(RECQL4):c.3106C>G (p.His1036Asp) rs1827388895
NM_004260.4(RECQL4):c.3106C>T (p.His1036Tyr)
NM_004260.4(RECQL4):c.3107A>G (p.His1036Arg) rs2130659859
NM_004260.4(RECQL4):c.3109C>T (p.Leu1037Phe) rs2130659824
NM_004260.4(RECQL4):c.310G>C (p.Asp104His)
NM_004260.4(RECQL4):c.310G>T (p.Asp104Tyr)
NM_004260.4(RECQL4):c.3115A>G (p.Ser1039Gly) rs2130659728
NM_004260.4(RECQL4):c.3116G>A (p.Ser1039Asn)
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu) rs370867731
NM_004260.4(RECQL4):c.3121G>A (p.Gly1041Arg) rs2130659641
NM_004260.4(RECQL4):c.3122G>A (p.Gly1041Glu) rs1827385602
NM_004260.4(RECQL4):c.3123_3124delinsAA (p.Asp1042Asn) rs1827384886
NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn) rs1827384465
NM_004260.4(RECQL4):c.3124G>T (p.Asp1042Tyr) rs1827384465
NM_004260.4(RECQL4):c.3126_3127delinsAC (p.Asp1042Glu)
NM_004260.4(RECQL4):c.3126_3127delinsGC (p.Asp1042Glu) rs1827383516
NM_004260.4(RECQL4):c.3127T>G (p.Leu1043Val) rs4925828
NM_004260.4(RECQL4):c.3127_3128delinsCA (p.Leu1043Gln) rs2130659424
NM_004260.4(RECQL4):c.3127_3128delinsCC (p.Leu1043Pro)
NM_004260.4(RECQL4):c.3130A>G (p.Thr1044Ala)
NM_004260.4(RECQL4):c.3130A>T (p.Thr1044Ser) rs1827381348
NM_004260.4(RECQL4):c.3133G>T (p.Ala1045Ser)
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys) rs771349728
NM_004260.4(RECQL4):c.3136GAG[1] (p.Glu1047del) rs747349932
NM_004260.4(RECQL4):c.3138G>T (p.Glu1046Asp) rs1286948806
NM_004260.4(RECQL4):c.3142A>G (p.Lys1048Glu) rs2130659205
NM_004260.4(RECQL4):c.3142_3144del (p.Lys1048del) rs772583454
NM_004260.4(RECQL4):c.3145G>C (p.Asp1049His) rs1176326208
NM_004260.4(RECQL4):c.3145_3150del (p.Asp1049_Gln1050del) rs2130659055
NM_004260.4(RECQL4):c.3150G>C (p.Gln1050His) rs2130659036
NM_004260.4(RECQL4):c.3153A>G (p.Ile1051Met) rs2130659004
NM_004260.4(RECQL4):c.3154T>C (p.Cys1052Arg) rs573929442
NM_004260.4(RECQL4):c.3154T>G (p.Cys1052Gly)
NM_004260.4(RECQL4):c.3159C>G (p.Asp1053Glu) rs763131728
NM_004260.4(RECQL4):c.3161T>G (p.Phe1054Cys) rs1564789631
NM_004260.4(RECQL4):c.3164T>C (p.Leu1055Pro) rs1060501380
NM_004260.4(RECQL4):c.3166T>C (p.Tyr1056His) rs1827370250
NM_004260.4(RECQL4):c.3166T>G (p.Tyr1056Asp) rs1827370250
NM_004260.4(RECQL4):c.3167A>G (p.Tyr1056Cys) rs773143092
NM_004260.4(RECQL4):c.3169G>A (p.Gly1057Ser)
NM_004260.4(RECQL4):c.3169G>C (p.Gly1057Arg)
NM_004260.4(RECQL4):c.316G>T (p.Gly106Trp) rs1379063242
NM_004260.4(RECQL4):c.3172C>A (p.Arg1058Ser) rs375297971
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3172C>T (p.Arg1058Cys) rs375297971
NM_004260.4(RECQL4):c.3173G>T (p.Arg1058Leu) rs778819494
NM_004260.4(RECQL4):c.3176T>G (p.Val1059Gly)
NM_004260.4(RECQL4):c.317G>A (p.Gly106Glu) rs1815229251
NM_004260.4(RECQL4):c.3180G>C (p.Gln1060His)
NM_004260.4(RECQL4):c.3182C>T (p.Ala1061Val) rs1827365759
NM_004260.4(RECQL4):c.3184C>G (p.Arg1062Gly) rs199658221
NM_004260.4(RECQL4):c.3185G>C (p.Arg1062Pro) rs558058260
NM_004260.4(RECQL4):c.3185G>T (p.Arg1062Leu)
NM_004260.4(RECQL4):c.3185_3199dup (p.Arg1062_Ala1066dup) rs1564789441
NM_004260.4(RECQL4):c.3186_3206del (p.Glu1063_Arg1069del) rs1827356241
NM_004260.4(RECQL4):c.3187G>A (p.Glu1063Lys)
NM_004260.4(RECQL4):c.3187_3188delinsAG (p.Glu1063Arg) rs2130658407
NM_004260.4(RECQL4):c.3188A>C (p.Glu1063Ala) rs1827365223
NM_004260.4(RECQL4):c.3188A>G (p.Glu1063Gly) rs1827365223
NM_004260.4(RECQL4):c.3189G>T (p.Glu1063Asp) rs1827364974
NM_004260.4(RECQL4):c.3190C>T (p.Arg1064Cys) rs781751586
NM_004260.4(RECQL4):c.3194A>C (p.Gln1065Pro) rs2130658284
NM_004260.4(RECQL4):c.3196G>A (p.Ala1066Thr) rs1564789456
NM_004260.4(RECQL4):c.3200_3205del (p.Leu1067_Ala1068del) rs921796381
NM_004260.4(RECQL4):c.3202G>A (p.Ala1068Thr) rs1827358772
NM_004260.4(RECQL4):c.3205C>A (p.Arg1069Ser)
NM_004260.4(RECQL4):c.3205C>G (p.Arg1069Gly) rs758648484
NM_004260.4(RECQL4):c.320A>C (p.Gln107Pro) rs564527898
NM_004260.4(RECQL4):c.3211C>G (p.Arg1071Gly)
NM_004260.4(RECQL4):c.3211C>T (p.Arg1071Cys) rs767530194
NM_004260.4(RECQL4):c.3215G>C (p.Arg1072Thr) rs2130657787
NM_004260.4(RECQL4):c.3217A>C (p.Thr1073Pro) rs1827351854
NM_004260.4(RECQL4):c.3218C>G (p.Thr1073Ser)
NM_004260.4(RECQL4):c.3221T>A (p.Phe1074Tyr)
NM_004260.4(RECQL4):c.3226G>A (p.Ala1076Thr) rs1192096078
NM_004260.4(RECQL4):c.3226G>T (p.Ala1076Ser)
NM_004260.4(RECQL4):c.3228_3344del117 (p.Phe1077_Glu1115del)
NM_004260.4(RECQL4):c.322C>T (p.Arg108Trp)
NM_004260.4(RECQL4):c.3233A>C (p.His1078Pro)
NM_004260.4(RECQL4):c.3234C>A (p.His1078Gln)
NM_004260.4(RECQL4):c.3235A>G (p.Ser1079Gly)
NM_004260.4(RECQL4):c.3236+13_3236+14delinsTA
NM_004260.4(RECQL4):c.3236+6G>A rs1315586319
NM_004260.4(RECQL4):c.3236G>A (p.Ser1079Asn)
NM_004260.4(RECQL4):c.3236G>C (p.Ser1079Thr)
NM_004260.4(RECQL4):c.3237-34_3237-5dup rs2130656481
NM_004260.4(RECQL4):c.3237-6C>T rs1827332199
NM_004260.4(RECQL4):c.3237-9_3237-7del
NM_004260.4(RECQL4):c.3237C>A (p.Ser1079Arg) rs770553956
NM_004260.4(RECQL4):c.3237C>G (p.Ser1079Arg) rs770553956
NM_004260.4(RECQL4):c.3239T>C (p.Val1080Ala) rs757086331
NM_004260.4(RECQL4):c.323G>A (p.Arg108Gln) rs750502685
NM_004260.4(RECQL4):c.3242C>T (p.Ala1081Val) rs772617043
NM_004260.4(RECQL4):c.3247C>A (p.Pro1083Thr) rs374434439
NM_004260.4(RECQL4):c.3248C>T (p.Pro1083Leu) rs1586791818
NM_004260.4(RECQL4):c.3251G>A (p.Ser1084Asn) rs1362921798
NM_004260.4(RECQL4):c.3253T>C (p.Cys1085Arg) rs1161967688
NM_004260.4(RECQL4):c.3253_3255del (p.Cys1085del) rs1564788945
NM_004260.4(RECQL4):c.3254G>A (p.Cys1085Tyr) rs1827324588
NM_004260.4(RECQL4):c.3254G>C (p.Cys1085Ser)
NM_004260.4(RECQL4):c.3254G>T (p.Cys1085Phe) rs1827324588
NM_004260.4(RECQL4):c.3255C>G (p.Cys1085Trp) rs779365826
NM_004260.4(RECQL4):c.3256G>C (p.Gly1086Arg) rs587778646
NM_004260.4(RECQL4):c.3256G>T (p.Gly1086Trp)
NM_004260.4(RECQL4):c.3257G>A (p.Gly1086Glu) rs1827323404
NM_004260.4(RECQL4):c.3257G>T (p.Gly1086Val) rs1827323404
NM_004260.4(RECQL4):c.3259C>A (p.Pro1087Thr)
NM_004260.4(RECQL4):c.3259C>T (p.Pro1087Ser)
NM_004260.4(RECQL4):c.325C>T (p.Leu109Phe) rs1815226105
NM_004260.4(RECQL4):c.3262T>C (p.Cys1088Arg) rs1554896393
NM_004260.4(RECQL4):c.3263G>C (p.Cys1088Ser) rs780200030
NM_004260.4(RECQL4):c.3263G>T (p.Cys1088Phe) rs780200030
NM_004260.4(RECQL4):c.3265C>G (p.Leu1089Val) rs1350035847
NM_004260.4(RECQL4):c.3268G>C (p.Glu1090Gln) rs756401653
NM_004260.4(RECQL4):c.3269A>G (p.Glu1090Gly)
NM_004260.4(RECQL4):c.3274C>A (p.Gln1092Lys)
NM_004260.4(RECQL4):c.3275A>G (p.Gln1092Arg)
NM_004260.4(RECQL4):c.3280GAG[1] (p.Glu1095del) rs1586791499
NM_004260.4(RECQL4):c.3283G>A (p.Glu1095Lys)
NM_004260.4(RECQL4):c.3285G>T (p.Glu1095Asp) rs2130655535
NM_004260.4(RECQL4):c.3287G>T (p.Arg1096Leu)
NM_004260.4(RECQL4):c.3289A>T (p.Ser1097Cys)
NM_004260.4(RECQL4):c.3290G>C (p.Ser1097Thr) rs1400903506
NM_004260.4(RECQL4):c.3291C>G (p.Ser1097Arg) rs1827313240
NM_004260.4(RECQL4):c.3292A>G (p.Thr1098Ala) rs2130655429
NM_004260.4(RECQL4):c.3296G>A (p.Arg1099Lys) rs760298099
NM_004260.4(RECQL4):c.3298C>T (p.Leu1100Phe)
NM_004260.4(RECQL4):c.3304G>A (p.Asp1102Asn) rs1422371025
NM_004260.4(RECQL4):c.3308T>G (p.Leu1103Arg) rs1827309086
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.4(RECQL4):c.3316C>G (p.Arg1106Gly) rs770193726
NM_004260.4(RECQL4):c.3318C>G (p.Arg1106=) rs781456397
NM_004260.4(RECQL4):c.331G>A (p.Ala111Thr) rs1586830068
NM_004260.4(RECQL4):c.3320A>G (p.Tyr1107Cys) rs1827305384
NM_004260.4(RECQL4):c.3323T>C (p.Phe1108Ser) rs1332079370
NM_004260.4(RECQL4):c.3324T>A (p.Phe1108Leu)
NM_004260.4(RECQL4):c.3325G>A (p.Glu1109Lys) rs1586791117
NM_004260.4(RECQL4):c.3325G>C (p.Glu1109Gln) rs1586791117
NM_004260.4(RECQL4):c.3326A>C (p.Glu1109Ala) rs1445287185
NM_004260.4(RECQL4):c.3328G>A (p.Glu1110Lys)
NM_004260.4(RECQL4):c.3329A>G (p.Glu1110Gly) rs1827302126
NM_004260.4(RECQL4):c.332C>G (p.Ala111Gly) rs1586830051
NM_004260.4(RECQL4):c.3333G>C (p.Glu1111Asp) rs1324387645
NM_004260.4(RECQL4):c.3337G>A (p.Gly1113Arg) rs35101495
NM_004260.4(RECQL4):c.3341A>G (p.Gln1114Arg) rs1827298476
NM_004260.4(RECQL4):c.3343G>A (p.Glu1115Lys) rs2130654574
NM_004260.4(RECQL4):c.3344_3370del (p.Glu1115_Gln1123del) rs1827291045
NM_004260.4(RECQL4):c.3346C>G (p.Pro1116Ala)
NM_004260.4(RECQL4):c.3347C>A (p.Pro1116Gln)
NM_004260.4(RECQL4):c.3349G>A (p.Gly1117Arg) rs1238752974
NM_004260.4(RECQL4):c.3350G>A (p.Gly1117Glu)
NM_004260.4(RECQL4):c.3350G>C (p.Gly1117Ala) rs1199300079
NM_004260.4(RECQL4):c.3352G>T (p.Gly1118Cys)
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp) rs1276726206
NM_004260.4(RECQL4):c.3353G>C (p.Gly1118Ala)
NM_004260.4(RECQL4):c.3353G>T (p.Gly1118Val) rs1276726206
NM_004260.4(RECQL4):c.3355A>T (p.Met1119Leu) rs2130654418
NM_004260.4(RECQL4):c.3355_3372del (p.Met1119_Gly1124del)
NM_004260.4(RECQL4):c.3356T>C (p.Met1119Thr)
NM_004260.4(RECQL4):c.335A>T (p.Asn112Ile) rs372651895
NM_004260.4(RECQL4):c.335_337dup (p.Asn112_Leu113insHis)
NM_004260.4(RECQL4):c.3360G>C (p.Glu1120Asp) rs770246912
NM_004260.4(RECQL4):c.3363C>A (p.Asp1121Glu) rs148752485
NM_004260.4(RECQL4):c.3367C>G (p.Gln1123Glu) rs995015088
NM_004260.4(RECQL4):c.3368A>C (p.Gln1123Pro) rs1827291422
NM_004260.4(RECQL4):c.3370G>A (p.Gly1124Ser) rs1586790742
NM_004260.4(RECQL4):c.3373C>A (p.Pro1125Thr) rs1253536369
NM_004260.4(RECQL4):c.3373C>T (p.Pro1125Ser)
NM_004260.4(RECQL4):c.3374C>A (p.Pro1125His)
NM_004260.4(RECQL4):c.3374C>G (p.Pro1125Arg)
NM_004260.4(RECQL4):c.3374C>T (p.Pro1125Leu)
NM_004260.4(RECQL4):c.3377A>C (p.Glu1126Ala) rs1030415007
NM_004260.4(RECQL4):c.3378G>C (p.Glu1126Asp)
NM_004260.4(RECQL4):c.3378G>T (p.Glu1126Asp) rs1827286724
NM_004260.4(RECQL4):c.3379C>T (p.Pro1127Ser) rs1418891842
NM_004260.4(RECQL4):c.3380C>T (p.Pro1127Leu) rs1827286027
NM_004260.4(RECQL4):c.3383G>A (p.Gly1128Glu) rs755845445
NM_004260.4(RECQL4):c.3383G>T (p.Gly1128Val)
NM_004260.4(RECQL4):c.3388G>A (p.Ala1130Thr) rs1186946412
NM_004260.4(RECQL4):c.338T>G (p.Leu113Arg) rs1245684504
NM_004260.4(RECQL4):c.3392G>T (p.Arg1131Ile) rs201369291
NM_004260.4(RECQL4):c.3393+11T>G
NM_004260.4(RECQL4):c.3393+14G>A
NM_004260.4(RECQL4):c.3393+16C>T
NM_004260.4(RECQL4):c.3393+4A>T
NM_004260.4(RECQL4):c.3394-3C>T
NM_004260.4(RECQL4):c.3394-4A>T rs777542762
NM_004260.4(RECQL4):c.3394-9del rs2130652385
NM_004260.4(RECQL4):c.3394C>T (p.Leu1132Phe) rs1554895894
NM_004260.4(RECQL4):c.3399G>A (p.Gln1133=)
NM_004260.4(RECQL4):c.3400G>A (p.Asp1134Asn)
NM_004260.4(RECQL4):c.3400G>T (p.Asp1134Tyr)
NM_004260.4(RECQL4):c.3402T>G (p.Asp1134Glu)
NM_004260.4(RECQL4):c.3409G>A (p.Asp1137Asn)
NM_004260.4(RECQL4):c.3410A>G (p.Asp1137Gly) rs950715422
NM_004260.4(RECQL4):c.3410A>T (p.Asp1137Val) rs950715422
NM_004260.4(RECQL4):c.3411C>G (p.Asp1137Glu)
NM_004260.4(RECQL4):c.3412C>G (p.Gln1138Glu) rs1827255071
NM_004260.4(RECQL4):c.3413A>C (p.Gln1138Pro) rs1554895884
NM_004260.4(RECQL4):c.3413A>G (p.Gln1138Arg) rs1554895884
NM_004260.4(RECQL4):c.3415G>A (p.Val1139Ile) rs1431803679
NM_004260.4(RECQL4):c.3415G>T (p.Val1139Phe) rs1431803679
NM_004260.4(RECQL4):c.3421T>C (p.Cys1141Arg) rs587778647
NM_004260.4(RECQL4):c.3422G>A (p.Cys1141Tyr)
NM_004260.4(RECQL4):c.3424G>A (p.Asp1142Asn) rs61755067
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.4(RECQL4):c.3430C>G (p.Arg1144Gly)
NM_004260.4(RECQL4):c.3433C>A (p.Gln1145Lys) rs1827248750
NM_004260.4(RECQL4):c.343G>A (p.Gly115Ser) rs1289970181
NM_004260.4(RECQL4):c.343G>C (p.Gly115Arg)
NM_004260.4(RECQL4):c.3440T>C (p.Leu1147Pro) rs1446094881
NM_004260.4(RECQL4):c.3443C>G (p.Ser1148Cys) rs35346077
NM_004260.4(RECQL4):c.3446T>C (p.Leu1149Pro) rs1358801934
NM_004260.4(RECQL4):c.3449G>A (p.Arg1150Lys) rs780676589
NM_004260.4(RECQL4):c.3449G>C (p.Arg1150Thr)
NM_004260.4(RECQL4):c.3449G>T (p.Arg1150Met) rs780676589
NM_004260.4(RECQL4):c.3451C>T (p.Pro1151Ser) rs1554895829
NM_004260.4(RECQL4):c.3454G>A (p.Glu1152Lys) rs1554895824
NM_004260.4(RECQL4):c.3454G>C (p.Glu1152Gln) rs1554895824
NM_004260.4(RECQL4):c.3454GAG[1] (p.Glu1153del) rs780986647
NM_004260.4(RECQL4):c.3456G>C (p.Glu1152Asp) rs756549605
NM_004260.4(RECQL4):c.3457G>C (p.Glu1153Gln)
NM_004260.4(RECQL4):c.3459G>C (p.Glu1153Asp) rs1827242769
NM_004260.4(RECQL4):c.3460A>T (p.Lys1154Ter) rs1564787413
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) rs1564787405
NM_004260.4(RECQL4):c.3462G>C (p.Lys1154Asn) rs1439767800
NM_004260.4(RECQL4):c.3467C>G (p.Ser1156Cys) rs373652049
NM_004260.4(RECQL4):c.3467C>T (p.Ser1156Phe) rs373652049
NM_004260.4(RECQL4):c.3472A>G (p.Arg1158Gly) rs1827239771
NM_004260.4(RECQL4):c.3475G>A (p.Ala1159Thr) rs1043628799
NM_004260.4(RECQL4):c.3476C>A (p.Ala1159Asp) rs766385605
NM_004260.4(RECQL4):c.3478G>A (p.Val1160Met) rs1827238382
NM_004260.4(RECQL4):c.3478G>C (p.Val1160Leu) rs1827238382
NM_004260.4(RECQL4):c.3479_3502+47del rs2130650294
NM_004260.4(RECQL4):c.347C>A (p.Thr116Asn) rs565419066
NM_004260.4(RECQL4):c.3481G>A (p.Ala1161Thr) rs916484589
NM_004260.4(RECQL4):c.3482C>T (p.Ala1161Val) rs1827237447
NM_004260.4(RECQL4):c.3484C>G (p.Arg1162Gly) rs773088003
NM_004260.4(RECQL4):c.3484_3502+8del rs1827230385
NM_004260.4(RECQL4):c.3485G>C (p.Arg1162Pro) rs747815189
NM_004260.4(RECQL4):c.3486_3502dup (p.Gly1168fs) rs751332709
NM_004260.4(RECQL4):c.3493C>G (p.His1165Asp) rs774202918
NM_004260.4(RECQL4):c.3493C>T (p.His1165Tyr)
NM_004260.4(RECQL4):c.3494_3502+8del
NM_004260.4(RECQL4):c.3495_3502+23del rs1827224893
NM_004260.4(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
NM_004260.4(RECQL4):c.3496G>C (p.Gly1166Arg) rs779410033
NM_004260.4(RECQL4):c.3497G>T (p.Gly1166Val) rs1416975304
NM_004260.4(RECQL4):c.3497del (p.Gly1166fs) rs35626651
NM_004260.4(RECQL4):c.3499_3502+60del
NM_004260.4(RECQL4):c.3499_3502+7del
NM_004260.4(RECQL4):c.349C>G (p.Leu117Val)
NM_004260.4(RECQL4):c.3502+1G>T rs757563486
NM_004260.4(RECQL4):c.3502+2T>A
NM_004260.4(RECQL4):c.3502+3G>A
NM_004260.4(RECQL4):c.3502+4A>G rs1586788693
NM_004260.4(RECQL4):c.3502+5G>A rs758521652
NM_004260.4(RECQL4):c.3502G>T (p.Gly1168Ter) rs781543298
NM_004260.4(RECQL4):c.3502_3502+8del rs2130650891
NM_004260.4(RECQL4):c.3503-10T>C
NM_004260.4(RECQL4):c.3503-1G>A
NM_004260.4(RECQL4):c.3503-2A>C rs1371218064
NM_004260.4(RECQL4):c.3503-2A>G
NM_004260.4(RECQL4):c.3503-2A>T rs1371218064
NM_004260.4(RECQL4):c.3503-3T>C
NM_004260.4(RECQL4):c.3503-3T>G
NM_004260.4(RECQL4):c.3503-7_3509del rs1827197544
NM_004260.4(RECQL4):c.3503G>A (p.Gly1168Glu)
NM_004260.4(RECQL4):c.3507C>A (p.Ser1169Arg) rs370738615
NM_004260.4(RECQL4):c.3508C>G (p.Pro1170Ala)
NM_004260.4(RECQL4):c.350T>A (p.Leu117Gln) rs1815218756
NM_004260.4(RECQL4):c.3511T>C (p.Cys1171Arg)
NM_004260.4(RECQL4):c.3513C>G (p.Cys1171Trp) rs2130649211
NM_004260.4(RECQL4):c.3520G>A (p.Ala1174Thr)
NM_004260.4(RECQL4):c.3520G>C (p.Ala1174Pro) rs1452579046
NM_004260.4(RECQL4):c.3521C>A (p.Ala1174Asp) rs587778648
NM_004260.4(RECQL4):c.3523C>T (p.Gln1175Ter) rs879192998
NM_004260.4(RECQL4):c.3525G>C (p.Gln1175His) rs757292188
NM_004260.4(RECQL4):c.3526G>A (p.Val1176Met) rs751477241
NM_004260.4(RECQL4):c.3527T>G (p.Val1176Gly)
NM_004260.4(RECQL4):c.352C>G (p.Gln118Glu)
NM_004260.4(RECQL4):c.3531C>G (p.Tyr1177Ter) rs139228543
NM_004260.4(RECQL4):c.3532G>C (p.Gly1178Arg) rs776146178
NM_004260.4(RECQL4):c.3532G>T (p.Gly1178Trp) rs776146178
NM_004260.4(RECQL4):c.3533G>C (p.Gly1178Ala)
NM_004260.4(RECQL4):c.3536A>G (p.Gln1179Arg)
NM_004260.4(RECQL4):c.353A>G (p.Gln118Arg) rs757435100
NM_004260.4(RECQL4):c.354+12_354+14delinsTAG
NM_004260.4(RECQL4):c.354+19G>C
NM_004260.4(RECQL4):c.354+5G>T rs780212446
NM_004260.4(RECQL4):c.354+6G>A
NM_004260.4(RECQL4):c.354+6G>C
NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.4(RECQL4):c.3542G>C (p.Arg1181Pro)
NM_004260.4(RECQL4):c.3542G>T (p.Arg1181Leu) rs370069034
NM_004260.4(RECQL4):c.3545_3546delinsTT (p.Arg1182Leu) rs1827186377
NM_004260.4(RECQL4):c.355-3C>G rs778042700
NM_004260.4(RECQL4):c.3551G>A (p.Trp1184Ter)
NM_004260.4(RECQL4):c.3555A>T (p.Arg1185Ser) rs1586787396
NM_004260.4(RECQL4):c.3556A>G (p.Lys1186Glu)
NM_004260.4(RECQL4):c.3560A>C (p.Tyr1187Ser) rs1586787364
NM_004260.4(RECQL4):c.3560A>G (p.Tyr1187Cys) rs1586787364
NM_004260.4(RECQL4):c.3562C>G (p.Leu1188Val)
NM_004260.4(RECQL4):c.3565C>G (p.His1189Asp)
NM_004260.4(RECQL4):c.3569T>G (p.Leu1190Arg)
NM_004260.4(RECQL4):c.356C>A (p.Ala119Asp) rs997621519
NM_004260.4(RECQL4):c.356C>T (p.Ala119Val)
NM_004260.4(RECQL4):c.3571A>C (p.Ser1191Arg)
NM_004260.4(RECQL4):c.3573C>G (p.Ser1191Arg) rs199885535
NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys)
NM_004260.4(RECQL4):c.3576C>G (p.Phe1192Leu) rs1586787251
NM_004260.4(RECQL4):c.3578A>G (p.His1193Arg) rs753427189
NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del) rs2130648343
NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr) rs201809411
NM_004260.4(RECQL4):c.3580G>T (p.Ala1194Ser) rs201809411
NM_004260.4(RECQL4):c.3581C>A (p.Ala1194Asp)
NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val) rs1353637154
NM_004260.4(RECQL4):c.3588G>A (p.Val1196=)
NM_004260.4(RECQL4):c.3589G>A (p.Gly1197Ser) rs1333144821
NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys) rs1333144821
NM_004260.4(RECQL4):c.358G>A (p.Gly120Arg) rs571635676
NM_004260.4(RECQL4):c.3590G>A (p.Gly1197Asp) rs546643758
NM_004260.4(RECQL4):c.3593T>C (p.Leu1198Pro)
NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr) rs1586787093
NM_004260.4(RECQL4):c.359G>A (p.Gly120Glu)
NM_004260.4(RECQL4):c.359G>C (p.Gly120Ala) rs779891153
NM_004260.4(RECQL4):c.3601del (p.Glu1201fs)
NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys) rs1827173179
NM_004260.4(RECQL4):c.3606G>C (p.Glu1202Asp) rs1259980040
NM_004260.4(RECQL4):c.3606G>T (p.Glu1202Asp) rs1259980040
NM_004260.4(RECQL4):c.3607C>T (p.Leu1203Phe)
NM_004260.4(RECQL4):c.3609_3611del (p.Leu1204del) rs1554895414
NM_004260.4(RECQL4):c.3611T>A (p.Leu1204Gln) rs2130647931
NM_004260.4(RECQL4):c.3615G>C (p.Gln1205His) rs1586786914
NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met) rs1346196114
NM_004260.4(RECQL4):c.3617T>G (p.Val1206Gly)
NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly) rs41555416
NM_004260.4(RECQL4):c.364G>T (p.Ala122Ser) rs750245958
NM_004260.4(RECQL4):c.365C>G (p.Ala122Gly)
NM_004260.4(RECQL4):c.365C>T (p.Ala122Val)
NM_004260.4(RECQL4):c.368T>G (p.Leu123Arg) rs1301601410
NM_004260.4(RECQL4):c.373C>T (p.Arg125Cys) rs762400332
NM_004260.4(RECQL4):c.374G>A (p.Arg125His)
NM_004260.4(RECQL4):c.377G>A (p.Arg126Lys) rs1815101790
NM_004260.4(RECQL4):c.379C>G (p.Pro127Ala) rs1815101287
NM_004260.4(RECQL4):c.379C>T (p.Pro127Ser)
NM_004260.4(RECQL4):c.384G>T (p.Trp128Cys) rs1335967859
NM_004260.4(RECQL4):c.386C>G (p.Pro129Arg)
NM_004260.4(RECQL4):c.391G>A (p.Gly131Arg) rs561427528
NM_004260.4(RECQL4):c.394A>G (p.Arg132Gly) rs929989281
NM_004260.4(RECQL4):c.395G>A (p.Arg132Lys) rs1815096415
NM_004260.4(RECQL4):c.398C>G (p.Ala133Gly) rs1815095431
NM_004260.4(RECQL4):c.401C>T (p.Ser134Leu)
NM_004260.4(RECQL4):c.403T>C (p.Ser135Pro) rs2130729542
NM_004260.4(RECQL4):c.404C>T (p.Ser135Phe) rs748201614
NM_004260.4(RECQL4):c.405T>A (p.Ser135=)
NM_004260.4(RECQL4):c.407A>C (p.Lys136Thr) rs1224242466
NM_004260.4(RECQL4):c.409G>A (p.Ala137Thr)
NM_004260.4(RECQL4):c.415A>G (p.Thr139Ala)
NM_004260.4(RECQL4):c.418C>T (p.Pro140Ser)
NM_004260.4(RECQL4):c.419C>T (p.Pro140Leu)
NM_004260.4(RECQL4):c.424C>G (p.Pro142Ala) rs781248589
NM_004260.4(RECQL4):c.427C>T (p.Pro143Ser) rs1023001689
NM_004260.4(RECQL4):c.428C>T (p.Pro143Leu) rs751329011
NM_004260.4(RECQL4):c.429A>C (p.Pro143=)
NM_004260.4(RECQL4):c.430G>T (p.Gly144Cys)
NM_004260.4(RECQL4):c.431G>T (p.Gly144Val)
NM_004260.4(RECQL4):c.433A>G (p.Thr145Ala)
NM_004260.4(RECQL4):c.433A>T (p.Thr145Ser)
NM_004260.4(RECQL4):c.434C>G (p.Thr145Arg)
NM_004260.4(RECQL4):c.434C>T (p.Thr145Ile) rs2130728963
NM_004260.4(RECQL4):c.436G>A (p.Gly146Arg) rs1815085488
NM_004260.4(RECQL4):c.439C>T (p.Pro147Ser)
NM_004260.4(RECQL4):c.445C>A (p.Pro149Thr)
NM_004260.4(RECQL4):c.445C>G (p.Pro149Ala) rs766844431
NM_004260.4(RECQL4):c.446C>G (p.Pro149Arg) rs773579080
NM_004260.4(RECQL4):c.447C>A (p.Pro149=)
NM_004260.4(RECQL4):c.449C>A (p.Ser150Tyr) rs748466411
NM_004260.4(RECQL4):c.449C>T (p.Ser150Phe)
NM_004260.4(RECQL4):c.454G>A (p.Ala152Thr) rs2130728610
NM_004260.4(RECQL4):c.455C>G (p.Ala152Gly) rs774699880
NM_004260.4(RECQL4):c.457G>C (p.Glu153Gln) rs2130728564
NM_004260.4(RECQL4):c.458A>G (p.Glu153Gly) rs1815075943
NM_004260.4(RECQL4):c.460A>G (p.Lys154Glu) rs2130728507
NM_004260.4(RECQL4):c.462A>G (p.Lys154=)
NM_004260.4(RECQL4):c.463G>C (p.Val155Leu)
NM_004260.4(RECQL4):c.464T>A (p.Val155Asp)
NM_004260.4(RECQL4):c.464T>G (p.Val155Gly)
NM_004260.4(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004260.4(RECQL4):c.468T>A (p.Ser156Arg)
NM_004260.4(RECQL4):c.470A>G (p.Asp157Gly) rs1815072083
NM_004260.4(RECQL4):c.471T>G (p.Asp157Glu)
NM_004260.4(RECQL4):c.472G>C (p.Glu158Gln) rs1387642543
NM_004260.4(RECQL4):c.473A>T (p.Glu158Val) rs2130728222
NM_004260.4(RECQL4):c.475C>A (p.Pro159Thr)
NM_004260.4(RECQL4):c.476C>A (p.Pro159His)
NM_004260.4(RECQL4):c.476C>T (p.Pro159Leu) rs1815070006
NM_004260.4(RECQL4):c.478C>G (p.Pro160Ala) rs758124770
NM_004260.4(RECQL4):c.478C>T (p.Pro160Ser) rs758124770
NM_004260.4(RECQL4):c.479C>T (p.Pro160Leu) rs752454965
NM_004260.4(RECQL4):c.484C>T (p.Leu162Phe) rs2130727988
NM_004260.4(RECQL4):c.487C>T (p.Pro163Ser) rs1815067197
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
NM_004260.4(RECQL4):c.488C>T (p.Pro163Leu)
NM_004260.4(RECQL4):c.490G>C (p.Glu164Gln) rs576735078
NM_004260.4(RECQL4):c.491A>G (p.Glu164Gly) rs1554903532
NM_004260.4(RECQL4):c.497A>G (p.Gln166Arg) rs1815064202
NM_004260.4(RECQL4):c.498G>C (p.Gln166His)
NM_004260.4(RECQL4):c.499C>T (p.Pro167Ser) rs1312949637
NM_004260.4(RECQL4):c.500C>T (p.Pro167Leu)
NM_004260.4(RECQL4):c.506C>T (p.Pro169Leu) rs1815062742
NM_004260.4(RECQL4):c.508G>A (p.Gly170Ser) rs774750928
NM_004260.4(RECQL4):c.508G>C (p.Gly170Arg)
NM_004260.4(RECQL4):c.509G>C (p.Gly170Ala) rs768956367
NM_004260.4(RECQL4):c.511C>G (p.Arg171Gly) rs775651175
NM_004260.4(RECQL4):c.512G>T (p.Arg171Leu) rs770777125
NM_004260.4(RECQL4):c.519G>T (p.Gln173His)
NM_004260.4(RECQL4):c.520C>A (p.His174Asn) rs369382124
NM_004260.4(RECQL4):c.520C>G (p.His174Asp) rs369382124
NM_004260.4(RECQL4):c.527A>C (p.Gln176Pro) rs2130727180
NM_004260.4(RECQL4):c.529G>A (p.Ala177Thr) rs2130727146
NM_004260.4(RECQL4):c.530C>T (p.Ala177Val)
NM_004260.4(RECQL4):c.532T>C (p.Ser178Pro) rs1294313948
NM_004260.4(RECQL4):c.533C>T (p.Ser178Phe) rs1203672864
NM_004260.4(RECQL4):c.538A>G (p.Ser180Gly)
NM_004260.4(RECQL4):c.539G>C (p.Ser180Thr) rs1060501378
NM_004260.4(RECQL4):c.541C>G (p.Gln181Glu)
NM_004260.4(RECQL4):c.542A>G (p.Gln181Arg) rs1001801628
NM_004260.4(RECQL4):c.543G>C (p.Gln181His) rs34159914
NM_004260.4(RECQL4):c.544C>G (p.Arg182Gly) rs750986351
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) rs565903685
NM_004260.4(RECQL4):c.545G>T (p.Arg182Leu)
NM_004260.4(RECQL4):c.548T>A (p.Leu183Gln) rs1347831284
NM_004260.4(RECQL4):c.548T>C (p.Leu183Pro) rs1347831284
NM_004260.4(RECQL4):c.554C>A (p.Ser185Tyr)
NM_004260.4(RECQL4):c.556C>G (p.Leu186Val) rs1171892293
NM_004260.4(RECQL4):c.559G>T (p.Asp187Tyr)
NM_004260.4(RECQL4):c.560A>G (p.Asp187Gly) rs1815046572
NM_004260.4(RECQL4):c.561T>G (p.Asp187Glu) rs2130726467
NM_004260.4(RECQL4):c.563C>A (p.Pro188His) rs773241386
NM_004260.4(RECQL4):c.563C>G (p.Pro188Arg) rs773241386
NM_004260.4(RECQL4):c.566G>A (p.Gly189Asp) rs1564808143
NM_004260.4(RECQL4):c.569G>C (p.Trp190Ser) rs2130726288
NM_004260.4(RECQL4):c.581G>A (p.Cys194Tyr) rs1206707992
NM_004260.4(RECQL4):c.586A>G (p.Ser196Gly)
NM_004260.4(RECQL4):c.592G>T (p.Val198Phe) rs749010505
NM_004260.4(RECQL4):c.595C>T (p.Pro199Ser)
NM_004260.4(RECQL4):c.596C>T (p.Pro199Leu) rs1564808023
NM_004260.4(RECQL4):c.598G>A (p.Asp200Asn) rs779547501
NM_004260.4(RECQL4):c.603T>G (p.Phe201Leu) rs1300462160
NM_004260.4(RECQL4):c.604C>G (p.Leu202Val) rs61754062
NM_004260.4(RECQL4):c.605T>C (p.Leu202Pro)
NM_004260.4(RECQL4):c.610G>A (p.Ala204Thr)
NM_004260.4(RECQL4):c.610G>C (p.Ala204Pro) rs879075324
NM_004260.4(RECQL4):c.611C>G (p.Ala204Gly) rs757780731
NM_004260.4(RECQL4):c.619G>T (p.Ala207Ser) rs2130725510
NM_004260.4(RECQL4):c.620C>T (p.Ala207Val) rs2130725479
NM_004260.4(RECQL4):c.623G>A (p.Cys208Tyr) rs1815031928
NM_004260.4(RECQL4):c.627G>T (p.Arg209Ser) rs1586825129
NM_004260.4(RECQL4):c.629C>T (p.Pro210Leu)
NM_004260.4(RECQL4):c.631G>A (p.Asp211Asn)
NM_004260.4(RECQL4):c.632A>G (p.Asp211Gly)
NM_004260.4(RECQL4):c.634C>A (p.Leu212Ile) rs377012693
NM_004260.4(RECQL4):c.634C>G (p.Leu212Val) rs377012693
NM_004260.4(RECQL4):c.635T>G (p.Leu212Arg) rs2130725247
NM_004260.4(RECQL4):c.637G>A (p.Gly213Ser)
NM_004260.4(RECQL4):c.638G>T (p.Gly213Val)
NM_004260.4(RECQL4):c.641C>T (p.Ser214Leu)
NM_004260.4(RECQL4):c.643G>A (p.Glu215Lys) rs749049274
NM_004260.4(RECQL4):c.643G>C (p.Glu215Gln) rs749049274
NM_004260.4(RECQL4):c.650C>T (p.Ser217Leu)
NM_004260.4(RECQL4):c.652C>G (p.Gln218Glu)
NM_004260.4(RECQL4):c.653A>G (p.Gln218Arg) rs1815022318
NM_004260.4(RECQL4):c.655C>G (p.Leu219Val)
NM_004260.4(RECQL4):c.657_659del (p.Leu220del) rs2130724840
NM_004260.4(RECQL4):c.658C>G (p.Leu220Val) rs747576464
NM_004260.4(RECQL4):c.661A>T (p.Ile221Phe)
NM_004260.4(RECQL4):c.663C>G (p.Ile221Met) rs367960606
NM_004260.4(RECQL4):c.665C>G (p.Pro222Arg)
NM_004260.4(RECQL4):c.665C>T (p.Pro222Leu) rs1452356265
NM_004260.4(RECQL4):c.668G>A (p.Gly223Asp)
NM_004260.4(RECQL4):c.671A>C (p.Glu224Ala)
NM_004260.4(RECQL4):c.671_694dup (p.Glu224_Gly231dup) rs1423848473
NM_004260.4(RECQL4):c.672G>A (p.Glu224=)
NM_004260.4(RECQL4):c.672G>C (p.Glu224Asp)
NM_004260.4(RECQL4):c.673T>A (p.Ser225Thr) rs1259887674
NM_004260.4(RECQL4):c.673T>C (p.Ser225Pro) rs1259887674
NM_004260.4(RECQL4):c.674C>G (p.Ser225Trp) rs753959069
NM_004260.4(RECQL4):c.674C>T (p.Ser225Leu) rs753959069
NM_004260.4(RECQL4):c.676G>A (p.Ala226Thr)
NM_004260.4(RECQL4):c.676G>C (p.Ala226Pro) rs2130724478
NM_004260.4(RECQL4):c.677C>G (p.Ala226Gly) rs763975196
NM_004260.4(RECQL4):c.679G>A (p.Val227Ile)
NM_004260.4(RECQL4):c.679G>C (p.Val227Leu)
NM_004260.4(RECQL4):c.682C>A (p.Leu228Ile) rs1316434470
NM_004260.4(RECQL4):c.682C>G (p.Leu228Val)
NM_004260.4(RECQL4):c.685G>C (p.Gly229Arg) rs374104402
NM_004260.4(RECQL4):c.685G>T (p.Gly229Cys) rs374104402
NM_004260.4(RECQL4):c.686G>A (p.Gly229Asp) rs1049360087
NM_004260.4(RECQL4):c.688C>A (p.Pro230Thr) rs745571670
NM_004260.4(RECQL4):c.692G>A (p.Gly231Asp) rs1363657823
NM_004260.4(RECQL4):c.694G>A (p.Ala232Thr) rs776332812
NM_004260.4(RECQL4):c.695C>T (p.Ala232Val)
NM_004260.4(RECQL4):c.698G>A (p.Gly233Asp) rs2130724078
NM_004260.4(RECQL4):c.700T>A (p.Ser234Thr)
NM_004260.4(RECQL4):c.701C>T (p.Ser234Phe) rs746487281
NM_004260.4(RECQL4):c.704A>G (p.Gln235Arg) rs1586824485
NM_004260.4(RECQL4):c.705G>C (p.Gln235His) rs1177971610
NM_004260.4(RECQL4):c.706G>A (p.Gly236Ser)
NM_004260.4(RECQL4):c.707G>A (p.Gly236Asp) rs778457870
NM_004260.4(RECQL4):c.707G>C (p.Gly236Ala)
NM_004260.4(RECQL4):c.707G>T (p.Gly236Val) rs778457870
NM_004260.4(RECQL4):c.709C>T (p.Pro237Ser) rs370391716
NM_004260.4(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.4(RECQL4):c.712G>C (p.Glu238Gln)
NM_004260.4(RECQL4):c.715G>A (p.Ala239Thr)
NM_004260.4(RECQL4):c.715G>C (p.Ala239Pro)
NM_004260.4(RECQL4):c.715G>T (p.Ala239Ser)
NM_004260.4(RECQL4):c.716C>A (p.Ala239Asp) rs146709578
NM_004260.4(RECQL4):c.717_719del (p.Ser240del)
NM_004260.4(RECQL4):c.721G>A (p.Ala241Thr) rs1815000155
NM_004260.4(RECQL4):c.721G>C (p.Ala241Pro) rs1815000155
NM_004260.4(RECQL4):c.722C>G (p.Ala241Gly) rs749435879
NM_004260.4(RECQL4):c.722C>T (p.Ala241Val) rs749435879
NM_004260.4(RECQL4):c.726C>A (p.Phe242Leu) rs1814998636
NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del) rs1814996685
NM_004260.4(RECQL4):c.729A>C (p.Gln243His) rs1227594944
NM_004260.4(RECQL4):c.731A>G (p.Glu244Gly) rs1814997320
NM_004260.4(RECQL4):c.733G>A (p.Val245Ile) rs2130723324
NM_004260.4(RECQL4):c.734T>G (p.Val245Gly) rs1814996367
NM_004260.4(RECQL4):c.736A>C (p.Ser246Arg) rs1564807240
NM_004260.4(RECQL4):c.737G>C (p.Ser246Thr) rs1586824146
NM_004260.4(RECQL4):c.737_738delinsTT (p.Ser246Ile)
NM_004260.4(RECQL4):c.740T>G (p.Ile247Ser)
NM_004260.4(RECQL4):c.741C>G (p.Ile247Met) rs1389538148
NM_004260.4(RECQL4):c.745G>C (p.Val249Leu) rs756397882
NM_004260.4(RECQL4):c.748G>A (p.Gly250Arg) rs1174607613
NM_004260.4(RECQL4):c.752G>A (p.Ser251Asn)
NM_004260.4(RECQL4):c.752G>C (p.Ser251Thr) rs1269997113
NM_004260.4(RECQL4):c.752G>T (p.Ser251Ile) rs1269997113
NM_004260.4(RECQL4):c.753C>A (p.Ser251Arg) rs1202043761
NM_004260.4(RECQL4):c.754C>T (p.Pro252Ser) rs376485578
NM_004260.4(RECQL4):c.763A>G (p.Ser255Gly)
NM_004260.4(RECQL4):c.764G>A (p.Ser255Asn) rs1814987051
NM_004260.4(RECQL4):c.767G>A (p.Ser256Asn) rs2130722622
NM_004260.4(RECQL4):c.768C>A (p.Ser256Arg) rs772714143
NM_004260.4(RECQL4):c.768C>G (p.Ser256Arg) rs772714143
NM_004260.4(RECQL4):c.769A>G (p.Ser257Gly) rs748671989
NM_004260.4(RECQL4):c.770G>A (p.Ser257Asn)
NM_004260.4(RECQL4):c.772G>A (p.Gly258Arg)
NM_004260.4(RECQL4):c.780G>C (p.Glu260Asp) rs780272651
NM_004260.4(RECQL4):c.781A>G (p.Lys261Glu) rs756268379
NM_004260.4(RECQL4):c.784C>G (p.Arg262Gly)
NM_004260.4(RECQL4):c.789A>C (p.Arg263Ser) rs1430320264
NM_004260.4(RECQL4):c.789A>T (p.Arg263Ser) rs1430320264
NM_004260.4(RECQL4):c.794A>G (p.Asn265Ser) rs1814980293
NM_004260.4(RECQL4):c.797A>G (p.Glu266Gly)
NM_004260.4(RECQL4):c.812G>A (p.Ser271Asn)
NM_004260.4(RECQL4):c.812G>C (p.Ser271Thr)
NM_004260.4(RECQL4):c.814C>A (p.Pro272Thr) rs1202501641
NM_004260.4(RECQL4):c.814C>T (p.Pro272Ser)
NM_004260.4(RECQL4):c.815C>T (p.Pro272Leu) rs771543750
NM_004260.4(RECQL4):c.818C>T (p.Ala273Val) rs1349749745
NM_004260.4(RECQL4):c.820C>A (p.Gln274Lys)
NM_004260.4(RECQL4):c.821A>G (p.Gln274Arg) rs1279942403
NM_004260.4(RECQL4):c.823G>A (p.Val275Ile) rs1814968941
NM_004260.4(RECQL4):c.823G>C (p.Val275Leu)
NM_004260.4(RECQL4):c.825C>A (p.Val275=) rs1814968623
NM_004260.4(RECQL4):c.828G>C (p.Gln276His)
NM_004260.4(RECQL4):c.829C>A (p.Gln277Lys)
NM_004260.4(RECQL4):c.830A>T (p.Gln277Leu) rs913014713
NM_004260.4(RECQL4):c.833A>G (p.Glu278Gly)
NM_004260.4(RECQL4):c.837C>G (p.Ser279Arg) rs1814966596
NM_004260.4(RECQL4):c.840C>G (p.Ser280Arg) rs1407076588
NM_004260.4(RECQL4):c.842A>G (p.Gln281Arg)
NM_004260.4(RECQL4):c.845C>A (p.Ala282Asp)
NM_004260.4(RECQL4):c.847G>A (p.Gly283Arg) rs2130721404
NM_004260.4(RECQL4):c.848G>T (p.Gly283Val) rs1814964597
NM_004260.4(RECQL4):c.857C>G (p.Ser286Trp) rs757320755
NM_004260.4(RECQL4):c.862G>C (p.Gly288Arg) rs199706417
NM_004260.4(RECQL4):c.863G>A (p.Gly288Glu) rs980430542
NM_004260.4(RECQL4):c.863GGGCTG[3] (p.288GA[3]) rs1554902664
NM_004260.4(RECQL4):c.865G>C (p.Ala289Pro)
NM_004260.4(RECQL4):c.866C>T (p.Ala289Val) rs1586823053
NM_004260.4(RECQL4):c.868G>A (p.Gly290Arg) rs1814954879
NM_004260.4(RECQL4):c.871G>A (p.Ala291Thr) rs1814953388
NM_004260.4(RECQL4):c.872C>T (p.Ala291Val) rs1396400224
NM_004260.4(RECQL4):c.874G>A (p.Val292Ile) rs1814952259
NM_004260.4(RECQL4):c.877G>A (p.Ala293Thr)
NM_004260.4(RECQL4):c.880G>A (p.Val294Ile) rs753691518
NM_004260.4(RECQL4):c.881T>C (p.Val294Ala) rs766346414
NM_004260.4(RECQL4):c.891C>A (p.Asp297Glu)
NM_004260.4(RECQL4):c.891C>G (p.Asp297Glu) rs34700133
NM_004260.4(RECQL4):c.892C>A (p.Pro298Thr)
NM_004260.4(RECQL4):c.893C>T (p.Pro298Leu) rs373334948
NM_004260.4(RECQL4):c.895C>G (p.Pro299Ala) rs1319378486
NM_004260.4(RECQL4):c.895C>T (p.Pro299Ser) rs1319378486
NM_004260.4(RECQL4):c.898G>A (p.Gly300Arg) rs764510816
NM_004260.4(RECQL4):c.899G>A (p.Gly300Glu) rs369842607
NM_004260.4(RECQL4):c.899G>T (p.Gly300Val)
NM_004260.4(RECQL4):c.903A>T (p.Glu301Asp) rs746200109
NM_004260.4(RECQL4):c.904C>G (p.Pro302Ala) rs771135444
NM_004260.4(RECQL4):c.905C>A (p.Pro302His)
NM_004260.4(RECQL4):c.905C>G (p.Pro302Arg)
NM_004260.4(RECQL4):c.905C>T (p.Pro302Leu) rs1242395636
NM_004260.4(RECQL4):c.907G>A (p.Val303Ile) rs1489813654
NM_004260.4(RECQL4):c.907G>T (p.Val303Leu) rs1489813654
NM_004260.4(RECQL4):c.910C>G (p.Gln304Glu)
NM_004260.4(RECQL4):c.911A>G (p.Gln304Arg) rs2130720006
NM_004260.4(RECQL4):c.917_922dup (p.Pro307_Pro308insGlnPro)
NM_004260.4(RECQL4):c.922C>A (p.Pro308Thr) rs756016498
NM_004260.4(RECQL4):c.922C>T (p.Pro308Ser)
NM_004260.4(RECQL4):c.923C>G (p.Pro308Arg)
NM_004260.4(RECQL4):c.925C>G (p.Gln309Glu) rs1554902528
NM_004260.4(RECQL4):c.926A>C (p.Gln309Pro) rs2130719699
NM_004260.4(RECQL4):c.926A>G (p.Gln309Arg)
NM_004260.4(RECQL4):c.927G>T (p.Gln309His) rs1814934410
NM_004260.4(RECQL4):c.928C>T (p.Pro310Ser) rs1060501376
NM_004260.4(RECQL4):c.929C>T (p.Pro310Leu) rs368504960
NM_004260.4(RECQL4):c.929_930delinsTT (p.Pro310Leu) rs2130719606
NM_004260.4(RECQL4):c.931T>G (p.Cys311Gly)
NM_004260.4(RECQL4):c.934A>G (p.Ser312Gly)
NM_004260.4(RECQL4):c.935G>A (p.Ser312Asn)
NM_004260.4(RECQL4):c.941C>T (p.Pro314Leu) rs1814931093
NM_004260.4(RECQL4):c.944C>G (p.Ser315Trp) rs376493359
NM_004260.4(RECQL4):c.945G>T (p.Ser315=)
NM_004260.4(RECQL4):c.946A>C (p.Asn316His) rs915773238
NM_004260.4(RECQL4):c.950C>T (p.Pro317Leu) rs2130719164
NM_004260.4(RECQL4):c.952A>G (p.Arg318Gly) rs2130719127
NM_004260.4(RECQL4):c.953G>A (p.Arg318Lys) rs1814927713
NM_004260.4(RECQL4):c.953G>C (p.Arg318Thr) rs1814927713
NM_004260.4(RECQL4):c.954G>C (p.Arg318Ser)
NM_004260.4(RECQL4):c.956A>G (p.Tyr319Cys) rs773296181
NM_004260.4(RECQL4):c.958_960dup (p.His320_Gly321insHis)
NM_004260.4(RECQL4):c.960C>G (p.His320Gln)
NM_004260.4(RECQL4):c.964C>A (p.Leu322Ile) rs780176764
NM_004260.4(RECQL4):c.964C>G (p.Leu322Val)
NM_004260.4(RECQL4):c.964C>T (p.Leu322Phe) rs780176764
NM_004260.4(RECQL4):c.965T>C (p.Leu322Pro) rs2130718879
NM_004260.4(RECQL4):c.968G>A (p.Ser323Asn)
NM_004260.4(RECQL4):c.969C>G (p.Ser323Arg) rs745658597
NM_004260.4(RECQL4):c.971C>T (p.Pro324Leu) rs756986756
NM_004260.4(RECQL4):c.972_973delinsTC (p.Ser325Pro)
NM_004260.4(RECQL4):c.974C>G (p.Ser325Cys) rs1441068518
NM_004260.4(RECQL4):c.974C>T (p.Ser325Phe) rs1441068518
NM_004260.4(RECQL4):c.977G>A (p.Ser326Asn)
NM_004260.4(RECQL4):c.977G>C (p.Ser326Thr)
NM_004260.4(RECQL4):c.977G>T (p.Ser326Ile) rs1586822184
NM_004260.4(RECQL4):c.980A>C (p.Gln327Pro) rs1183506714
NM_004260.4(RECQL4):c.982G>C (p.Ala328Pro) rs2130718555
NM_004260.4(RECQL4):c.983C>G (p.Ala328Gly) rs777258662
NM_004260.4(RECQL4):c.986G>A (p.Arg329Lys) rs1814915989
NM_004260.4(RECQL4):c.986G>C (p.Arg329Thr)
NM_004260.4(RECQL4):c.989C>T (p.Ala330Val)
NM_004260.4(RECQL4):c.991G>A (p.Gly331Arg) rs2130718366

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