ClinVar Miner

List of variants in gene CHEK2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 716
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.319+4206T>C rs12627843 0.99991
NM_007194.4(CHEK2):c.1095+250T>C rs5752771 0.99947
NM_007194.4(CHEK2):c.319+4177C>T rs12171198 0.99748
NM_007194.4(CHEK2):c.1009-264T>C rs4820790 0.98450
NC_000022.11:g.28741956G>C rs2236142 0.67002
NM_007194.4(CHEK2):c.684-224T>C rs5752776 0.63427
NM_007194.4(CHEK2):c.1375+78C>G rs5762749 0.59838
NM_007194.4(CHEK2):c.1376-258C>T rs5762747 0.39026
NM_007194.4(CHEK2):c.847-200A>G rs2267130 0.35241
NM_007194.4(CHEK2):c.319+91G>A rs1033667 0.30095
NM_007194.4(CHEK2):c.1375+347T>G rs12165489 0.12169
NM_007194.4(CHEK2):c.-7+2398dup rs113960351 0.11014
NC_000022.11:g.28741882C>T rs2236141 0.09783
NM_007194.4(CHEK2):c.592+168T>C rs3788408 0.08398
NM_007194.4(CHEK2):c.-7+2214C>T rs5997390 0.08338
NM_007194.4(CHEK2):c.1096-320G>A rs17507045 0.07711
NM_007194.4(CHEK2):c.1095+169G>A rs17507066 0.06878
NM_007194.4(CHEK2):c.1375+225C>T rs5762748 0.06152
NM_007194.4(CHEK2):c.319+3621G>A rs112976408 0.05307
NM_007194.4(CHEK2):c.793-127T>C rs9625541 0.04460
NM_007194.4(CHEK2):c.684-107T>G rs16986640 0.04453
NM_007194.4(CHEK2):c.1543-411C>T rs139467994 0.04205
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_007194.4(CHEK2):c.792+325C>G rs56924042 0.02681
NM_007194.4(CHEK2):c.1095+163G>A rs117188004 0.02399
NM_007194.4(CHEK2):c.1543-192A>G rs17880568 0.02143
NM_007194.4(CHEK2):c.-7+286A>T rs17879734 0.02131
NM_007194.4(CHEK2):c.793-302T>A rs17881138 0.02002
NM_007194.4(CHEK2):c.1462-198C>T rs17883639 0.01796
NM_007194.4(CHEK2):c.1542+11T>A rs17881716 0.01583
NM_007194.4(CHEK2):c.593-79T>C rs56109140 0.01169
NM_007194.4(CHEK2):c.320-313C>T rs17886564 0.01087
NM_007194.4(CHEK2):c.-6-190C>G rs78988069 0.00906
NM_007194.4(CHEK2):c.319+3774C>T rs189426023 0.00883
NM_007194.4(CHEK2):c.319+179A>G rs144682905 0.00818
NM_007194.4(CHEK2):c.592+279G>C rs142341111 0.00817
NM_007194.4(CHEK2):c.593-287G>T rs147042282 0.00815
NM_007194.4(CHEK2):c.1461+345G>A rs144770665 0.00659
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_007194.4(CHEK2):c.319+4082_319+4086del rs544310054 0.00501
NM_007194.4(CHEK2):c.-7+2358G>A rs188521523 0.00482
NM_007194.4(CHEK2):c.-7+2237A>G rs142648656 0.00479
NM_007194.4(CHEK2):c.319+4077T>C rs540334065 0.00435
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.319+4338C>T rs180978510 0.00376
NM_007194.4(CHEK2):c.846+138C>T rs372969631 0.00326
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_007194.4(CHEK2):c.684-432G>A rs17879919 0.00232
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1096-129A>T rs574744424 0.00192
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_007194.4(CHEK2):c.684-74G>C rs121908712 0.00183
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.444+24C>T rs121908699 0.00150
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.319+3966G>A rs137926355 0.00040
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_007194.4(CHEK2):c.1008+71A>G rs121908713 0.00020
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=) rs938389349 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178 0.00004
NM_007194.4(CHEK2):c.150C>T (p.Ser50=) rs967317594 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_007194.4(CHEK2):c.-8C>T rs539227672 0.00003
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.909-18C>T rs1009670975 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007194.4(CHEK2):c.*5C>T rs587781367 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) rs769933461 0.00002
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) rs1060502702 0.00002
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250 0.00002
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.1462-7C>G rs730881707 0.00002
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp) rs780920036 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) rs876659950 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) rs144850845 0.00002
NM_007194.4(CHEK2):c.592+9A>G rs538351542 0.00002
NM_007194.4(CHEK2):c.600C>G (p.Val200=) rs141685349 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.-10C>T rs730881693 0.00001
NM_007194.4(CHEK2):c.-34A>T rs121908696 0.00001
NM_007194.4(CHEK2):c.1009-7T>G rs763174055 0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) rs374660293 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) rs760449049 0.00001
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140 0.00001
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) rs572668197 0.00001
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg) rs1064793339 0.00001
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) rs761681864 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) rs145324174 0.00001
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser) rs587780168 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val) rs886041172 0.00001
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) rs1057520268 0.00001
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) rs1342820782 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) rs758206293 0.00001
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738 0.00001
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His) rs766191039 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys) rs1064796572 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly) rs1064793470 0.00001
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) rs876660046 0.00001
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101 0.00001
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) rs139088611 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) rs776093527 0.00001
NM_007194.4(CHEK2):c.1375+26T>C rs527418829 0.00001
NM_007194.4(CHEK2):c.1376-12T>C rs876660970 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) rs529571124 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) rs773600515 0.00001
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173 0.00001
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) rs762041905 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) rs1052262892 0.00001
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly) rs753560465 0.00001
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684 0.00001
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171 0.00001
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013 0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) rs767758092 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr) rs1300016035 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027 0.00001
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) rs587781982 0.00001
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) rs876658557 0.00001
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.444+6T>C rs1060502720 0.00001
NM_007194.4(CHEK2):c.445-10T>C rs1060504692 0.00001
NM_007194.4(CHEK2):c.445-15T>A rs1064793595 0.00001
NM_007194.4(CHEK2):c.445-4T>C rs1064795487 0.00001
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly) rs786203794 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) rs1555926996 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) rs587782413 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) rs876659233 0.00001
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) rs876659400 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) rs786203483 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) rs766599514 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.5C>T (p.Ser2Phe) rs1417811260 0.00001
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007194.4(CHEK2):c.684-4C>G rs121908695 0.00001
NM_007194.4(CHEK2):c.684-7_694del rs1555921323 0.00001
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) rs587782419 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193 0.00001
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) rs142243299 0.00001
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188 0.00001
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) rs730881686 0.00001
NM_007194.4(CHEK2):c.792+10A>G rs753836819 0.00001
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) rs1064793689 0.00001
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) rs749963436 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.846+3A>G rs1476026799 0.00001
NM_007194.4(CHEK2):c.846+5G>A rs764394796 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) rs756692505 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553 0.00001
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe) rs786202256 0.00001
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) rs587782033 0.00001
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile) rs1156943614 0.00001
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1
GRCh37/hg19 22q12.1(chr22:29092889-29095925)x1
GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1
GRCh37/hg19 22q12.1(chr22:29099493-29099554)x1
NM_007194.3(CHEK2):c.1462-?_1542+?del
NM_007194.3:c.-72_1632del
NM_007194.4(CHEK2):c.-114A>G rs121908697
NM_007194.4(CHEK2):c.-3G>C rs876659027
NM_007194.4(CHEK2):c.-6-111dup rs201340887
NM_007194.4(CHEK2):c.-6-12T>A rs1064793997
NM_007194.4(CHEK2):c.-6-2A>C
NM_007194.4(CHEK2):c.-6-3287A>C
NM_007194.4(CHEK2):c.-6-99del rs201340887
NM_007194.4(CHEK2):c.-6-9C>G rs565169061
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) rs864622371
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) rs864622371
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp) rs1555915316
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter) rs2145841361
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) rs1569120831
NM_007194.4(CHEK2):c.1008+191del rs17885956
NM_007194.4(CHEK2):c.1009-2A>G rs766158073
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr) rs371207635
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser) rs863224746
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp) rs864622537
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu) rs730881689
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala) rs876659406
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) rs765425451
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1085_1088del (p.Cys362fs)
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) rs1064793566
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1096-1G>A rs1060502716
NM_007194.4(CHEK2):c.1096-394G>C rs17880511
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1103A>T (p.Asp368Val)
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu) rs587780166
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) rs147877722
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe) rs147877722
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser) rs1601723329
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) rs1601723175
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys) rs267606211
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu) rs375130261
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn) rs202089930
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met) rs876661249
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe) rs145324174
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) rs1060502696
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) rs587780168
NM_007194.4(CHEK2):c.1163C>A (p.Pro388His) rs1601722891
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile) rs2145804544
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly) rs527878975
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) rs2145803112
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) rs1555913720
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val) rs1435731482
NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs) rs886041455
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) rs587782527
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn) rs766191039
NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr) rs766191039
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) rs121908694
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg) rs587780172
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) rs1555913662
NM_007194.4(CHEK2):c.1235G>C (p.Ser412Thr) rs1555913662
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1241_1243del (p.Gly414del) rs2145801539
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp) rs748555394
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr) rs1555913642
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu) rs1064793737
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr) rs1601721712
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1259+28A>G rs121908708
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-20CT[3] rs760037989
NM_007194.4(CHEK2):c.1260-4T>G rs1064793337
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His) rs1060502714
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp) rs730881691
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu) rs1064793300
NM_007194.4(CHEK2):c.126T>A (p.Ser42=) rs1601853112
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) rs1064795041
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met) rs1555913504
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser) rs587780175
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg) rs878854914
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly) rs1569112074
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu) rs587780176
NM_007194.4(CHEK2):c.1318A>T (p.Ile440Phe) rs587780176
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys) rs876660373
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val) rs750012749
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) rs1555913437
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs) rs1601719250
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) rs730881702
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs) rs2145792978
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
NM_007194.4(CHEK2):c.1375+16G>A rs776700371
NM_007194.4(CHEK2):c.1376-376C>G rs6005837
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val) rs876659512
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) rs876658456
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met) rs730881692
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) rs763344790
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His) rs876658449
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr) rs876658449
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1417G>T (p.Ala473Ser)
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) rs540635787
NM_007194.4(CHEK2):c.1425dup (p.Thr476fs) rs2145785282
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) rs762488591
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val) rs786203303
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys) rs1555913090
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) rs786203490
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln) rs1555913081
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg) rs1601715793
NM_007194.4(CHEK2):c.1461+163dup rs556335113
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1461+5G>T rs769841229
NM_007194.4(CHEK2):c.1461+6T>C rs1064795915
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1462-97_1462-96insC rs2145752240
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) rs2052247122
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) rs549945536
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) rs1060502721
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) rs1338238773
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) rs1346924016
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1543-11_1543-2del rs2145739661
NM_007194.4(CHEK2):c.1543-168G>A rs17881275
NM_007194.4(CHEK2):c.1543-31del rs121908709
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1562G>C (p.Arg521Pro)
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) rs786202339
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter) rs138040612
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) rs1444665408
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) rs587781710
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val) rs1064795821
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met) rs1064794950
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser) rs767414081
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) rs1194893297
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) rs1555932401
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly) rs766499735
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) rs876659424
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) rs786203025
NM_007194.4(CHEK2):c.195A>C (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.195A>G (p.Thr65=) rs1411341011
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) rs730881696
NM_007194.4(CHEK2):c.204T>C (p.Thr68=) rs1601852195
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg) rs876661109
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) rs878854917
NM_007194.4(CHEK2):c.208del (p.Glu70fs) rs2146147510
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys) rs1601852018
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val) rs1555932352
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3]) rs587780181
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) rs876659006
NM_007194.4(CHEK2):c.239C>G (p.Pro80Arg)
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys) rs551930027
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del) rs1064793085
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser) rs777588170
NM_007194.4(CHEK2):c.276_303delinsTGGCCCTTCA (p.Trp93_Asp101delinsGlyProSer) rs2146143883
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser) rs786203889
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) rs2054312626
NM_007194.4(CHEK2):c.293C>A (p.Ala98Asp) rs1601851270
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val) rs1601851270
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) rs2054311767
NM_007194.4(CHEK2):c.313A>C (p.Asn105His) rs1010061908
NM_007194.4(CHEK2):c.319+1G>T rs765080766
NM_007194.4(CHEK2):c.319+3674_319+3676dup rs561193294
NM_007194.4(CHEK2):c.319+39dup rs3841692
NM_007194.4(CHEK2):c.319+4038_319+4043del rs200932714
NM_007194.4(CHEK2):c.319+4426= rs7510706
NM_007194.4(CHEK2):c.319+5G>T rs730881698
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.326T>A (p.Val109Glu)
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly) rs1555927328
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu) rs757340619
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) rs786202246
NM_007194.4(CHEK2):c.371G>T (p.Cys124Phe) rs754768271
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.374T>G (p.Phe125Cys) rs1064794677
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly) rs864622541
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) rs1064793324
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) rs1569158640
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.411A>C (p.Arg137=) rs1060504695
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp) rs730881703
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys) rs587780182
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn) rs768234137
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.422del (p.Lys141fs) rs1555927165
NM_007194.4(CHEK2):c.423del (p.Lys142fs) rs2053957486
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) rs137853007
NM_007194.4(CHEK2):c.438T>C (p.Ile146=) rs1601824974
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.444+5G>C rs189961251
NM_007194.4(CHEK2):c.445-6T>G rs2146062425
NM_007194.4(CHEK2):c.445-9C>G rs1064794870
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu) rs1359910629
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu) rs1555927017
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg) rs730881682
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys) rs564924749
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) rs1426424086
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser) rs17879961
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) rs374170772
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) rs1060502718
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.486_488del (p.His163del) rs1064794964
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp) rs876660846
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp) rs876659089
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu) rs876659653
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala) rs786203836
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu) rs2053942160
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala) rs1555926862
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg) rs876661085
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) rs876658857
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) rs137853010
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.544_551dup (p.Asn184_Asn185insLeuTer)
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr) rs1555926784
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg) rs786203042
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+2T>C rs1601822717
NM_007194.4(CHEK2):c.592+3_592+4del rs1064794120
NM_007194.4(CHEK2):c.592+5TAT[2] rs1555926697
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-6_593-3del rs2053697275
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) rs730881704
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) rs587780187
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.619G>T (p.Asp207Tyr)
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.646T>G (p.Leu216Val) rs2146005941
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr) rs1601853823
NM_007194.4(CHEK2):c.655G>C (p.Glu219Gln) rs1601805632
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His) rs1555924429
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys) rs1060502690
NM_007194.4(CHEK2):c.664A>G (p.Met222Val) rs786203472
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys) rs775134484
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro) rs1296957097
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg) rs878854920
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu) rs2053689692
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly) rs745475247
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+4A>G rs1064795509
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn) rs1601805361
NM_007194.4(CHEK2):c.684-100_684-78dup rs17881244
NM_007194.4(CHEK2):c.684-3del rs1569141052
NM_007194.4(CHEK2):c.684-7C>T rs745408471
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser) rs1064794948
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) rs730881685
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly) rs1601783933
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) rs878854921
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) rs765136136
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly) rs141776984
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr) rs587778193
NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer) rs1555921143
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile) rs748504161
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp) rs1064795978
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr) rs2053410234
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu) rs786201896
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) rs750596640
NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn) rs750596640
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val) rs1060502717
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) rs2146153237
NM_007194.4(CHEK2):c.791C>T (p.Ala264Val) rs765216307
NM_007194.4(CHEK2):c.792+240dup rs17880165
NM_007194.4(CHEK2):c.792+7A>T rs1601782720
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-1G>T rs730881687
NM_007194.4(CHEK2):c.793-9_793-8del rs1480956379
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) rs766462610
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) rs749963436
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.830T>G (p.Leu277Trp) rs1555920150
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr) rs587782196
NM_007194.4(CHEK2):c.845_846+36dup rs1064794357
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-12C>G rs769724628
NM_007194.4(CHEK2):c.847-30_847-11dup rs760398606
NM_007194.4(CHEK2):c.847-5C>G rs1555917045
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser) rs1555917036
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val) rs986132746
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe) rs986132746
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr) rs1555917019
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe) rs1341939689
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.876del (p.Phe292fs) rs772683219
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) rs772683219
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala) rs932236548
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.886G>C (p.Asp296His) rs876659553
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser) rs876659870
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) rs779607427
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.908+18del rs778668907
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+5G>C rs1064796016
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.909-292dup rs1188199517
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007194.4(CHEK2):c.909-8T>C rs1569121935
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg) rs587783051
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) rs587780192
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.931G>C (p.Asp311His) rs587782347
NM_007194.4(CHEK2):c.936dup (p.Val313fs) rs1555915491
NM_007194.4(CHEK2):c.937G>C (p.Val313Leu)
NM_007194.4(CHEK2):c.940G>A (p.Val314Met)
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg) rs1569121455
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu) rs587782480
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.973A>C (p.Lys325Gln) rs587780193
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) rs1555915377

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