|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01603
|
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00514
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00408
|
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
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.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00063
|
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)
|
rs142692907
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00025
|
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00024
|
|
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.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00015
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00015
|
|
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.1497G>C (p.Leu499=)
|
rs587780890
|
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.1217G>A (p.Arg406His)
|
rs200649225
|
0.00012
|
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00010
|
|
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.*7T>C
|
rs121908710
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00008
|
|
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.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00007
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00007
|
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
|
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.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
|
NM_007194.4(CHEK2):c.1461+2301G>T
|
rs537445902
|
0.00005
|
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_007194.4(CHEK2):c.633T>C (p.Val211=)
|
rs1555924460
|
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.1130A>G (p.Glu377Gly)
|
rs560973106
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
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.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007194.4(CHEK2):c.908+19A>T
|
rs759973493
|
0.00004
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
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.1563G>A (p.Arg521=)
|
rs761278013
|
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.1623T>C (p.Ala541=)
|
rs773670297
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007194.4(CHEK2):c.534A>G (p.Gly178=)
|
rs554465930
|
0.00003
|
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00003
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00003
|
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
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.1033C>T (p.His345Tyr)
|
rs864622537
|
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.1183G>C (p.Val395Leu)
|
rs587780170
|
0.00002
|
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
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.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
|
NM_007194.4(CHEK2):c.432T>C (p.Phe144=)
|
rs876658374
|
0.00002
|
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
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.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
0.00002
|
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00002
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
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.-6-4T>C
|
rs2054342764
|
0.00001
|
|
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
|
rs2052756490
|
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.102G>A (p.Gln34=)
|
rs1555932675
|
0.00001
|
|
NM_007194.4(CHEK2):c.1035C>T (p.His345=)
|
rs756520206
|
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.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=)
|
rs1601726685
|
0.00001
|
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
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.112A>G (p.Ile38Val)
|
rs774192195
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)
|
rs527878975
|
0.00001
|
|
NM_007194.4(CHEK2):c.1197T>C (p.Val399=)
|
rs1057520268
|
0.00001
|
|
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=)
|
rs876659590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-18C>T
|
rs1057521375
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)
|
rs749368980
|
0.00001
|
|
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=)
|
rs781514295
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.1290T>C (p.His430=)
|
rs373864492
|
0.00001
|
|
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=)
|
rs587780175
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
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.1376-12T>C
|
rs876660970
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
|
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=)
|
rs864622382
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1431A>G (p.Thr477=)
|
rs2052468226
|
0.00001
|
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
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.1494T>C (p.Leu498=)
|
rs531931623
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
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.1566C>T (p.Pro522=)
|
rs202104749
|
0.00001
|
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
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.189A>G (p.Leu63=)
|
rs761028062
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
|
NM_007194.4(CHEK2):c.225T>G (p.Pro75=)
|
rs1217608176
|
0.00001
|
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
0.00001
|
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
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.30G>A (p.Gln10=)
|
rs1330700030
|
0.00001
|
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
|
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)
|
rs775320614
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
0.00001
|
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
|
NM_007194.4(CHEK2):c.387G>A (p.Leu129=)
|
rs560046142
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
0.00001
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+2T>G
|
rs560596101
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
|
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)
|
rs1555926996
|
0.00001
|
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
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.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
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.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00001
|
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00001
|
|
NM_007194.4(CHEK2):c.708G>C (p.Leu236=)
|
rs1359839685
|
0.00001
|
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
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.753C>T (p.Ile251=)
|
rs1422471902
|
0.00001
|
|
NM_007194.4(CHEK2):c.760A>C (p.Arg254=)
|
rs1395878179
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
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.847-30_847-11dup
|
rs760398606
|
0.00001
|
|
NM_007194.4(CHEK2):c.847-7T>G
|
rs1057520267
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
|
NM_007194.4(CHEK2):c.954C>T (p.Arg318=)
|
rs1601738778
|
0.00001
|
|
NM_007194.4(CHEK2):c.990G>A (p.Gln330=)
|
rs9625537
|
0.00001
|
|
NM_007194.4(CHEK2):c.996C>T (p.Leu332=)
|
rs1053994833
|
0.00001
|
|
NM_007194.4(CHEK2):c.997T>C (p.Leu333=)
|
rs1352758126
|
0.00001
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
0.00001
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
|
NM_007194.4(CHEK2):c.-6-2A>C
|
rs1555932985
|
|
|
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=)
|
rs1601738112
|
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
|
NM_007194.4(CHEK2):c.1009-4G>A
|
rs1057521735
|
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
|
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=)
|
rs1555914312
|
|
|
NM_007194.4(CHEK2):c.1056T>C (p.Asn352=)
|
rs1060502709
|
|
|
NM_007194.4(CHEK2):c.105C>T (p.Ser35=)
|
rs1057521541
|
|
|
NM_007194.4(CHEK2):c.1062A>G (p.Leu354=)
|
rs1427613188
|
|
|
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=)
|
rs786201130
|
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
|
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=)
|
rs1555913920
|
|
|
NM_007194.4(CHEK2):c.1110G>T (p.Gly370=)
|
rs1555913920
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
|
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys)
|
rs147877722
|
|
|
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=)
|
rs79357544
|
|
|
NM_007194.4(CHEK2):c.1119G>A (p.Lys373=)
|
|
|
|
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=)
|
rs2052563996
|
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
rs2145806157
|
|
|
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=)
|
rs1555913880
|
|
|
NM_007194.4(CHEK2):c.1134C>G (p.Thr378=)
|
rs876658880
|
|
|
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr)
|
rs2054329519
|
|
|
NM_007194.4(CHEK2):c.1140C>T (p.Leu380=)
|
rs2145805584
|
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
|
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=)
|
rs1060502715
|
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
|
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=)
|
rs878854911
|
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
|
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=)
|
rs1314236188
|
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
|
NM_007194.4(CHEK2):c.1173G>A (p.Leu391=)
|
rs2145804298
|
|
|
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=)
|
rs142692907
|
|
|
NM_007194.4(CHEK2):c.117C>T (p.Ser39=)
|
rs2146151376
|
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
|
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=)
|
rs1350419049
|
|
|
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=)
|
rs1350419049
|
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
|
NM_007194.4(CHEK2):c.1239A>G (p.Leu413=)
|
rs867238570
|
|
|
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=)
|
rs1601721811
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
|
NM_007194.4(CHEK2):c.126T>A (p.Ser42=)
|
rs1601853112
|
|
|
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=)
|
rs1257494163
|
|
|
NM_007194.4(CHEK2):c.1275A>G (p.Pro425=)
|
rs28601856
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
|
NM_007194.4(CHEK2):c.1281C>T (p.Phe427=)
|
|
|
|
NM_007194.4(CHEK2):c.1284T>G (p.Ser428=)
|
rs781514295
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
|
NM_007194.4(CHEK2):c.1296T>C (p.Thr432=)
|
rs2145795034
|
|
|
NM_007194.4(CHEK2):c.129C>T (p.Thr43=)
|
rs786202779
|
|
|
NM_007194.4(CHEK2):c.1302G>A (p.Val434=)
|
rs1060504693
|
|
|
NM_007194.4(CHEK2):c.1305A>G (p.Ser435=)
|
rs2145794786
|
|
|
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=)
|
rs2145794670
|
|
|
NM_007194.4(CHEK2):c.1311G>A (p.Lys437=)
|
|
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
|
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=)
|
rs1601719469
|
|
|
NM_007194.4(CHEK2):c.1347T>G (p.Pro449=)
|
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
|
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=)
|
rs1555913419
|
|
|
NM_007194.4(CHEK2):c.135G>A (p.Thr45=)
|
rs745423387
|
|
|
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=)
|
rs1057520523
|
|
|
NM_007194.4(CHEK2):c.1365C>G (p.Val455=)
|
rs1287444894
|
|
|
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=)
|
rs1057523229
|
|
|
NM_007194.4(CHEK2):c.1376-4T>G
|
rs1601716727
|
|
|
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=)
|
rs786201296
|
|
|
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)
|
rs764396738
|
|
|
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=)
|
rs1601716508
|
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
|
NM_007194.4(CHEK2):c.1422T>C (p.Arg474=)
|
|
|
|
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=)
|
rs1601716189
|
|
|
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=)
|
rs1060504697
|
|
|
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=)
|
rs1060504697
|
|
|
NM_007194.4(CHEK2):c.1437A>G (p.Glu479=)
|
rs2145784828
|
|
|
NM_007194.4(CHEK2):c.1443A>G (p.Leu481=)
|
rs1555913096
|
|
|
NM_007194.4(CHEK2):c.1449C>T (p.His483=)
|
rs1555913081
|
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
|
NM_007194.4(CHEK2):c.1461+3G>A
|
rs1555913067
|
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
|
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His)
|
rs1060502701
|
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
rs2517757835
|
|
|
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=)
|
rs587780890
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
|
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=)
|
rs1057521300
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
|
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=)
|
rs1060502721
|
|
|
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=)
|
rs1555912021
|
|
|
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.1522dup (p.Leu508fs)
|
rs1555912001
|
|
|
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.1530G>C (p.Gln510His)
|
rs1569104011
|
|
|
NM_007194.4(CHEK2):c.1533T>G (p.Val511=)
|
rs2145748251
|
|
|
NM_007194.4(CHEK2):c.1534C>T (p.Leu512=)
|
rs17882942
|
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
rs2145748011
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
|
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=)
|
rs1601698296
|
|
|
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=)
|
rs2145739425
|
|
|
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=)
|
rs2145739341
|
|
|
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.1560G>A (p.Lys520=)
|
rs1601698058
|
|
|
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=)
|
rs748954413
|
|
|
NM_007194.4(CHEK2):c.1575G>A (p.Gly525=)
|
rs770307891
|
|
|
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=)
|
rs1601697668
|
|
|
NM_007194.4(CHEK2):c.1590C>A (p.Ala530=)
|
rs786201796
|
|
|
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=)
|
rs786201796
|
|
|
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln)
|
rs587781710
|
|
|
NM_007194.4(CHEK2):c.1596C>A (p.Thr532=)
|
rs2145737656
|
|
|
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)
|
rs1569102099
|
|
|
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)
|
rs1601697447
|
|
|
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)
|
rs1057521299
|
|
|
NM_007194.4(CHEK2):c.1614G>A (p.Val538=)
|
rs750337711
|
|
|
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)
|
rs1194893297
|
|
|
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=)
|
rs773670297
|
|
|
NM_007194.4(CHEK2):c.1629G>A (p.Leu543=)
|
rs2517746590
|
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
|
NM_007194.4(CHEK2):c.180G>A (p.Leu60=)
|
rs2146148626
|
|
|
NM_007194.4(CHEK2):c.186C>T (p.Ser62=)
|
rs786203025
|
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
|
NM_007194.4(CHEK2):c.195A>C (p.Thr65=)
|
rs1411341011
|
|
|
NM_007194.4(CHEK2):c.1A>G (p.Met1Val)
|
rs863224748
|
|
|
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)
|
rs863224748
|
|
|
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.213C>G (p.Leu71=)
|
rs1057524667
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
|
NM_007194.4(CHEK2):c.222T>C (p.Ile74=)
|
rs876659629
|
|
|
NM_007194.4(CHEK2):c.225T>C (p.Pro75=)
|
rs1217608176
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.240T>G (p.Pro80=)
|
rs878854918
|
|
|
NM_007194.4(CHEK2):c.243G>A (p.Glu81=)
|
rs1060504690
|
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
|
NM_007194.4(CHEK2):c.24G>A (p.Glu8=)
|
rs780920036
|
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
|
NM_007194.4(CHEK2):c.261G>A (p.Glu87=)
|
rs2146145556
|
|
|
NM_007194.4(CHEK2):c.276C>G (p.Pro92=)
|
rs1478388236
|
|
|
NM_007194.4(CHEK2):c.27T>C (p.Ala9=)
|
rs876660497
|
|
|
NM_007194.4(CHEK2):c.27T>G (p.Ala9=)
|
rs876660497
|
|
|
NM_007194.4(CHEK2):c.286T>C (p.Leu96=)
|
rs1555932127
|
|
|
NM_007194.4(CHEK2):c.300G>A (p.Gln100=)
|
rs1456691189
|
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
|
NM_007194.4(CHEK2):c.320-3C>T
|
rs863224749
|
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
|
NM_007194.4(CHEK2):c.336C>T (p.Asn112=)
|
rs1060502689
|
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
|
NM_007194.4(CHEK2):c.369T>C (p.Tyr123=)
|
rs2146070088
|
|
|
NM_007194.4(CHEK2):c.36T>C (p.Ser12=)
|
rs1555932896
|
|
|
NM_007194.4(CHEK2):c.372C>T (p.Cys124=)
|
rs1555927291
|
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
|
NM_007194.4(CHEK2):c.384A>G (p.Pro128=)
|
rs766409666
|
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
|
NM_007194.4(CHEK2):c.390G>A (p.Leu130=)
|
rs1057522435
|
|
|
NM_007194.4(CHEK2):c.393A>G (p.Lys131=)
|
rs2146068876
|
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
|
NM_007194.4(CHEK2):c.411A>C (p.Arg137=)
|
rs1060504695
|
|
|
NM_007194.4(CHEK2):c.411A>G (p.Arg137=)
|
|
|
|
NM_007194.4(CHEK2):c.414A>C (p.Thr138=)
|
rs876658162
|
|
|
NM_007194.4(CHEK2):c.414A>G (p.Thr138=)
|
rs876658162
|
|
|
NM_007194.4(CHEK2):c.426A>G (p.Lys142=)
|
rs1601825176
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
|
NM_007194.4(CHEK2):c.433C>A (p.Arg145=)
|
rs137853007
|
|
|
NM_007194.4(CHEK2):c.435G>T (p.Arg145=)
|
rs746314542
|
|
|
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.449del (p.Val150fs)
|
rs1601824270
|
|
|
NM_007194.4(CHEK2):c.46A>G (p.Ser16Gly)
|
rs1426424086
|
|
|
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.478A>C (p.Ile160Leu)
|
rs876659950
|
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
|
NM_007194.4(CHEK2):c.483A>G (p.Glu161=)
|
rs1601823895
|
|
|
NM_007194.4(CHEK2):c.48T>C (p.Ser16=)
|
rs958282985
|
|
|
NM_007194.4(CHEK2):c.498T>C (p.Asn166=)
|
rs759868962
|
|
|
NM_007194.4(CHEK2):c.516A>G (p.Thr172=)
|
rs2146059358
|
|
|
NM_007194.4(CHEK2):c.51C>A (p.Ala17=)
|
rs1601853973
|
|
|
NM_007194.4(CHEK2):c.51C>T (p.Ala17=)
|
rs1601853973
|
|
|
NM_007194.4(CHEK2):c.537A>G (p.Lys179=)
|
rs2146058652
|
|
|
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)
|
rs151218932
|
|
|
NM_007194.4(CHEK2):c.549G>A (p.Leu183=)
|
rs745646057
|
|
|
NM_007194.4(CHEK2):c.54T>C (p.Cys18=)
|
rs1057523962
|
|
|
NM_007194.4(CHEK2):c.561T>C (p.Ser187=)
|
rs1555926782
|
|
|
NM_007194.4(CHEK2):c.570A>T (p.Ala190=)
|
rs754689169
|
|
|
NM_007194.4(CHEK2):c.576A>G (p.Ser192=)
|
rs1555926751
|
|
|
NM_007194.4(CHEK2):c.579A>G (p.Leu193=)
|
rs1569157233
|
|
|
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+13T>C
|
rs1057521311
|
|
|
NM_007194.4(CHEK2):c.592+17A>G
|
rs2053934609
|
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
|
NM_007194.4(CHEK2):c.593-2A>T
|
rs2146007633
|
|
|
NM_007194.4(CHEK2):c.597T>C (p.Phe199=)
|
rs2146007453
|
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
|
NM_007194.4(CHEK2):c.621T>C (p.Asp207=)
|
rs1555924486
|
|
|
NM_007194.4(CHEK2):c.624T>C (p.Asp208=)
|
rs1555924474
|
|
|
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.642G>A (p.Lys214=)
|
rs1569149867
|
|
|
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)
|
rs1060502708
|
|
|
NM_007194.4(CHEK2):c.654T>C (p.Asp218=)
|
rs907621837
|
|
|
NM_007194.4(CHEK2):c.657A>G (p.Glu219=)
|
rs1222043566
|
|
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
|
|
NM_007194.4(CHEK2):c.66T>C (p.His22=)
|
rs2146153897
|
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
|
NM_007194.4(CHEK2):c.684-7C>T
|
rs745408471
|
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
|
NM_007194.4(CHEK2):c.69C>T (p.Gly23=)
|
rs865997083
|
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
rs2517962830
|
|
|
NM_007194.4(CHEK2):c.705G>A (p.Lys235=)
|
rs1555921297
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
|
NM_007194.4(CHEK2):c.72C>T (p.Ser24=)
|
rs759679862
|
|
|
NM_007194.4(CHEK2):c.750C>A (p.Ile250=)
|
rs1601783180
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
|
NM_007194.4(CHEK2):c.75T>C (p.Val25=)
|
rs1555932812
|
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
|
NM_007194.4(CHEK2):c.786A>G (p.Arg262=)
|
rs2145948918
|
|
|
NM_007194.4(CHEK2):c.78C>G (p.Thr26=)
|
rs876658717
|
|
|
NM_007194.4(CHEK2):c.78C>T (p.Thr26=)
|
rs876658717
|
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
|
NM_007194.4(CHEK2):c.793-21_793-20del
|
rs1719605865
|
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
|
NM_007194.4(CHEK2):c.804C>T (p.Leu268=)
|
rs2145933872
|
|
|
NM_007194.4(CHEK2):c.810T>C (p.Val270=)
|
rs1601777666
|
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
|
NM_007194.4(CHEK2):c.838C>T (p.Leu280=)
|
rs2145932680
|
|
|
NM_007194.4(CHEK2):c.840A>G (p.Leu280=)
|
rs2517942453
|
|
|
NM_007194.4(CHEK2):c.844C>G (p.His282Asp)
|
rs774068238
|
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
|
NM_007194.4(CHEK2):c.849T>G (p.Pro283=)
|
rs2052982778
|
|
|
NM_007194.4(CHEK2):c.84C>A (p.Ser28=)
|
rs863224415
|
|
|
NM_007194.4(CHEK2):c.84C>T (p.Ser28=)
|
rs863224415
|
|
|
NM_007194.4(CHEK2):c.852C>T (p.Cys284=)
|
rs1555917031
|
|
|
NM_007194.4(CHEK2):c.855C>T (p.Ile285=)
|
rs756692505
|
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
rs2517886828
|
|
|
NM_007194.4(CHEK2):c.879T>C (p.Asp293=)
|
rs1601752583
|
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
|
NM_007194.4(CHEK2):c.882A>G (p.Ala294=)
|
rs2052978138
|
|
|
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)
|
rs771860071
|
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
|
NM_007194.4(CHEK2):c.891T>C (p.Tyr297=)
|
rs2517885679
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
|
NM_007194.4(CHEK2):c.907T>C (p.Leu303=)
|
rs752359705
|
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
|
NM_007194.4(CHEK2):c.90C>T (p.Gly30=)
|
rs1555932724
|
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
rs786203053
|
|
|
NM_007194.4(CHEK2):c.924G>A (p.Glu308=)
|
rs1601739269
|
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
|
NM_007194.4(CHEK2):c.927G>A (p.Leu309=)
|
rs746952353
|
|
|
NM_007194.4(CHEK2):c.936dup (p.Val313fs)
|
rs1555915491
|
|
|
NM_007194.4(CHEK2):c.939G>A (p.Val313=)
|
rs1555915485
|
|
|
NM_007194.4(CHEK2):c.942G>A (p.Val314=)
|
rs1057520467
|
|
|
NM_007194.4(CHEK2):c.945G>T (p.Gly315=)
|
rs876659711
|
|
|
NM_007194.4(CHEK2):c.951A>G (p.Lys317=)
|
rs2145843565
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
|
NM_007194.4(CHEK2):c.954C>G (p.Arg318=)
|
rs1601738778
|
|
|
NM_007194.4(CHEK2):c.955C>T (p.Leu319=)
|
rs1057524600
|
|
|
NM_007194.4(CHEK2):c.960A>G (p.Lys320=)
|
rs1237880782
|
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
|
NM_007194.4(CHEK2):c.96C>G (p.Ser32=)
|
rs1601853447
|
|
|
NM_007194.4(CHEK2):c.975G>A (p.Lys325=)
|
rs2145842576
|
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
|
Single allele
|
|
|