NC_000022.11:g.28741882C>T
|
rs2236141
|
0.09783
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00555
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
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.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NC_000022.11:g.28742014G>A
|
rs187164042
|
0.00100
|
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.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.1008+13C>T
|
rs193264230
|
0.00011
|
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.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.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.320-16T>C
|
rs773890954
|
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.847-17T>C
|
rs199780411
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
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.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.1543-20C>G
|
rs551645416
|
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.593-55G>A
|
rs17879915
|
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.908+19A>T
|
rs759973493
|
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.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.1259+14T>A
|
rs780245762
|
0.00003
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile)
|
rs548796284
|
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.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.444+20G>T
|
rs755989738
|
0.00003
|
NM_007194.4(CHEK2):c.593-15T>C
|
rs757717459
|
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.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.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
NM_007194.4(CHEK2):c.1259+17T>C
|
rs746109434
|
0.00002
|
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His)
|
rs769933461
|
0.00002
|
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala)
|
rs749158713
|
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.275C>T (p.Pro92Leu)
|
rs779269031
|
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.432T>C (p.Phe144=)
|
rs876658374
|
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.60G>T (p.Gln20His)
|
rs375507194
|
0.00002
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_007194.4(CHEK2):c.684-20A>G
|
rs1057520266
|
0.00002
|
NM_007194.4(CHEK2):c.684-6C>T
|
rs776400765
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
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_007194.3(CHEK2):c.-70A>T
|
rs1264820873
|
0.00001
|
NM_007194.4(CHEK2):c.-9G>C
|
rs1489154308
|
0.00001
|
NM_007194.4(CHEK2):c.1009-20A>G
|
rs946179247
|
0.00001
|
NM_007194.4(CHEK2):c.1009-6G>A
|
rs775593362
|
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.1019A>G (p.Glu340Gly)
|
rs747655283
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val)
|
rs141502354
|
0.00001
|
NM_007194.4(CHEK2):c.102G>A (p.Gln34=)
|
rs1555932675
|
0.00001
|
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met)
|
rs202051128
|
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.1042T>G (p.Leu348Val)
|
rs2052611352
|
0.00001
|
NM_007194.4(CHEK2):c.1043T>C (p.Leu348Ser)
|
rs878854908
|
0.00001
|
NM_007194.4(CHEK2):c.1046A>G (p.Lys349Arg)
|
rs1235802399
|
0.00001
|
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala)
|
rs786202893
|
0.00001
|
NM_007194.4(CHEK2):c.1054A>G (p.Asn352Asp)
|
rs1361935182
|
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.1095+8A>G
|
rs1057522814
|
0.00001
|
NM_007194.4(CHEK2):c.1095G>C (p.Lys365Asn)
|
rs1601726502
|
0.00001
|
NM_007194.4(CHEK2):c.1096-16T>C
|
rs1377212608
|
0.00001
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
NM_007194.4(CHEK2):c.1098T>G (p.Ile366Met)
|
rs876659635
|
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.1182A>T (p.Glu394Asp)
|
rs786202164
|
0.00001
|
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val)
|
rs886041172
|
0.00001
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
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.1198G>T (p.Gly400Trp)
|
rs1342820782
|
0.00001
|
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=)
|
rs876659590
|
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.1226A>T (p.Asp409Val)
|
rs761095543
|
0.00001
|
NM_007194.4(CHEK2):c.1230C>T (p.Cys410=)
|
rs773380144
|
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.1260-18C>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.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_007194.4(CHEK2):c.1273C>T (p.Pro425Ser)
|
rs1423670346
|
0.00001
|
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro)
|
rs1182200321
|
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.1291A>G (p.Arg431Gly)
|
rs1064793470
|
0.00001
|
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=)
|
rs587780175
|
0.00001
|
NM_007194.4(CHEK2):c.1316A>G (p.Gln439Arg)
|
rs1467664274
|
0.00001
|
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His)
|
rs878854915
|
0.00001
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
NM_007194.4(CHEK2):c.1325G>A (p.Ser442Asn)
|
rs779383555
|
0.00001
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His)
|
rs587778194
|
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.1361A>G (p.Glu454Gly)
|
rs1233346197
|
0.00001
|
NM_007194.4(CHEK2):c.1367C>T (p.Ser456Leu)
|
rs876659827
|
0.00001
|
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu)
|
rs1601852941
|
0.00001
|
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
NM_007194.4(CHEK2):c.1375+2T>A
|
rs1483241325
|
0.00001
|
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro)
|
rs769729382
|
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.137T>G (p.Met46Arg)
|
rs1555932504
|
0.00001
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg)
|
rs529571124
|
0.00001
|
NM_007194.4(CHEK2):c.1409A>G (p.Asp470Gly)
|
rs1483112470
|
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.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.1461+18C>T
|
rs1260246390
|
0.00001
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
NM_007194.4(CHEK2):c.1462-12A>G
|
rs1339529482
|
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.146C>G (p.Ser49Cys)
|
rs730881694
|
0.00001
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
0.00001
|
NM_007194.4(CHEK2):c.1482G>T (p.Lys494Asn)
|
rs767043399
|
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.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
NM_007194.4(CHEK2):c.1503G>T (p.Glu501Asp)
|
rs1060502721
|
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.1542+6C>T
|
rs1414780425
|
0.00001
|
NM_007194.4(CHEK2):c.1543-16T>G
|
rs764277564
|
0.00001
|
NM_007194.4(CHEK2):c.1547C>G (p.Ser516Cys)
|
rs1601698243
|
0.00001
|
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly)
|
rs753560465
|
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.1609G>A (p.Ala537Thr)
|
rs1175957439
|
0.00001
|
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val)
|
rs2052180370
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala)
|
rs1569170717
|
0.00001
|
NM_007194.4(CHEK2):c.189A>G (p.Leu63=)
|
rs761028062
|
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.208G>A (p.Glu70Lys)
|
rs878854917
|
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.253C>T (p.Pro85Ser)
|
rs1366081066
|
0.00001
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
0.00001
|
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu)
|
rs758792132
|
0.00001
|
NM_007194.4(CHEK2):c.280G>A (p.Ala94Thr)
|
rs753860983
|
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.307T>C (p.Phe103Leu)
|
rs587781669
|
0.00001
|
NM_007194.4(CHEK2):c.30G>A (p.Gln10=)
|
rs1330700030
|
0.00001
|
NM_007194.4(CHEK2):c.315T>A (p.Asn105Lys)
|
rs1555932027
|
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.322T>A (p.Cys108Ser)
|
rs730881681
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
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.354C>A (p.Asp118Glu)
|
rs757340619
|
0.00001
|
NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg)
|
rs373648967
|
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.383C>T (p.Pro128Leu)
|
rs587781879
|
0.00001
|
NM_007194.4(CHEK2):c.384A>G (p.Pro128=)
|
rs766409666
|
0.00001
|
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu)
|
rs1275395933
|
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+4G>A
|
rs1434760802
|
0.00001
|
NM_007194.4(CHEK2):c.444+5G>A
|
rs189961251
|
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.445-14G>A
|
rs2053950383
|
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.545C>A (p.Pro182His)
|
rs372168051
|
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.558T>C (p.Asn186=)
|
rs1226489823
|
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.575C>T (p.Ser192Leu)
|
rs899211928
|
0.00001
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro)
|
rs766599514
|
0.00001
|
NM_007194.4(CHEK2):c.592+18T>C
|
rs1206497698
|
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.616G>A (p.Val206Ile)
|
rs876659871
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu)
|
rs767253467
|
0.00001
|
NM_007194.4(CHEK2):c.62C>T (p.Pro21Leu)
|
rs1569171601
|
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.665T>C (p.Met222Thr)
|
rs775134484
|
0.00001
|
NM_007194.4(CHEK2):c.683+10T>C
|
rs747427230
|
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.686G>T (p.Gly229Val)
|
rs778212685
|
0.00001
|
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr)
|
rs1555921335
|
0.00001
|
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg)
|
rs587782419
|
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.716A>G (p.Glu239Gly)
|
rs763892124
|
0.00001
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
NM_007194.4(CHEK2):c.723A>C (p.Lys241Asn)
|
rs1023861689
|
0.00001
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
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.753C>T (p.Ile251=)
|
rs1422471902
|
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.792+11A>G
|
rs765935437
|
0.00001
|
NM_007194.4(CHEK2):c.792+17G>A
|
rs1057523609
|
0.00001
|
NM_007194.4(CHEK2):c.792+18G>A
|
rs1385038498
|
0.00001
|
NM_007194.4(CHEK2):c.792+19C>T
|
rs1057522960
|
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.793-4A>G
|
rs1212612057
|
0.00001
|
NM_007194.4(CHEK2):c.793G>C (p.Asp265His)
|
rs1064793689
|
0.00001
|
NM_007194.4(CHEK2):c.817G>C (p.Glu273Gln)
|
rs587782152
|
0.00001
|
NM_007194.4(CHEK2):c.818A>C (p.Glu273Ala)
|
rs755666375
|
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+12T>C
|
rs1057524077
|
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.846+7A>G
|
rs763340730
|
0.00001
|
NM_007194.4(CHEK2):c.847-7T>G
|
rs1057520267
|
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.875T>C (p.Phe292Ser)
|
rs2052979739
|
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.908+10A>G
|
rs774973319
|
0.00001
|
NM_007194.4(CHEK2):c.908+16T>G
|
rs1198651411
|
0.00001
|
NM_007194.4(CHEK2):c.908+18T>A
|
rs755416802
|
0.00001
|
NM_007194.4(CHEK2):c.908T>C (p.Leu303Ser)
|
rs1233699096
|
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.916G>C (p.Gly306Arg)
|
rs587783051
|
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
|
NM_007194.4(CHEK2):c.954C>T (p.Arg318=)
|
rs1601738778
|
0.00001
|
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met)
|
rs767656411
|
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
|
NC_000022.10:g.(?_29081001)_29140000del
|
|
|
NC_000022.10:g.(?_29083875)_(29085213_?)dup
|
|
|
NC_000022.10:g.(?_29083875)_(29099564_?)dup
|
|
|
NC_000022.10:g.(?_29083875)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29083879)_(29095931_?)dup
|
|
|
NC_000022.10:g.(?_29083879)_(29130715_?)dup
|
|
|
NC_000022.10:g.(?_29083885)_(29090115_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29095935_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29095935_?)dup
|
|
|
NC_000022.10:g.(?_29083885)_(29099564_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29108015_?)del
|
|
|
NC_000022.10:g.(?_29083885)_(29108015_?)dup
|
|
|
NC_000022.10:g.(?_29083885)_(29121365_?)dup
|
|
|
NC_000022.10:g.(?_29083885)_(29130709_?)del
|
|
|
NC_000022.10:g.(?_29084253)_(29085958_?)del
|
|
|
NC_000022.10:g.(?_29085113)_(29085213_?)del
|
|
|
NC_000022.10:g.(?_29090010)_(29115483_?)del
|
|
|
NC_000022.10:g.(?_29090010)_(29130713_?)del
|
|
|
NC_000022.10:g.(?_29090010)_(29130713_?)dup
|
|
|
NC_000022.10:g.(?_29091105)_(29091240_?)del
|
|
|
NC_000022.10:g.(?_29091105)_(29108015_?)dup
|
|
|
NC_000022.10:g.(?_29092879)_(29095935_?)del
|
|
|
NC_000022.10:g.(?_29095816)_(29095935_?)dup
|
|
|
NC_000022.10:g.(?_29095816)_(29099564_?)del
|
|
|
NC_000022.10:g.(?_29095820)_(29130715_?)del
|
|
|
NC_000022.10:g.(?_29099483)_(29099564_?)dup
|
|
|
NC_000022.10:g.(?_29099483)_(29108015_?)del
|
|
|
NC_000022.10:g.(?_29099483)_(29108015_?)dup
|
|
|
NC_000022.10:g.(?_29099483)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29099493)_(29099554_?)dup
|
|
|
NC_000022.10:g.(?_29105984)_(29115483_?)del
|
|
|
NC_000022.10:g.(?_29105984)_(29115483_?)dup
|
|
|
NC_000022.10:g.(?_29105988)_(29106053_?)del
|
|
|
NC_000022.10:g.(?_29105988)_(29108011_?)dup
|
|
|
NC_000022.10:g.(?_29105988)_(29115479_?)del
|
|
|
NC_000022.10:g.(?_29115373)_(29121365_?)del
|
|
|
NC_000022.10:g.(?_29115377)_(29115479_?)del
|
|
|
NC_000022.10:g.(?_29120157)_(29121086_?)del
|
|
|
NC_000022.10:g.(?_29120955)_(29121365_?)dup
|
|
|
NC_000022.10:g.(?_29121102)_(29125325_?)del
|
|
|
NC_000022.10:g.(?_29130381)_(29130713_?)dup
|
|
|
NC_000022.10:g.(?_29130381)_(29130719_?)dup
|
|
|
NC_000022.10:g.(?_29130385)_(29130715_?)del
|
|
|
NC_000022.10:g.(?_29130385)_(29130715_?)dup
|
|
|
NC_000022.11:g.(?_28687743)_(28687986_?)del
|
|
|
NC_000022.11:g.(?_28687743)_(28725367_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28687996_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28699947_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28699947_?)dup
|
|
|
NC_000022.11:g.(?_28687887)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28710069_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28719495_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28687887)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28689221_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28696993_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28703572_?)del
|
|
|
NC_000022.11:g.(?_28687891)_(28734727_?)del
|
|
|
NC_000022.11:g.(?_28687897)_(28689225_?)dup
|
|
|
NC_000022.11:g.(?_28687897)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28687897)_(28719495_?)dup
|
|
|
NC_000022.11:g.(?_28687897)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28687897)_(28734725_?)dup
|
|
|
NC_000022.11:g.(?_28689125)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28689129)_(28696993_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28694127_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28699947_?)del
|
|
|
NC_000022.11:g.(?_28694022)_(28703576_?)dup
|
|
|
NC_000022.11:g.(?_28694022)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28694026)_(28734727_?)del
|
|
|
NC_000022.11:g.(?_28695117)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28695121)_(28703572_?)del
|
|
|
NC_000022.11:g.(?_28695700)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28696891)_(28696997_?)del
|
|
|
NC_000022.11:g.(?_28699832)_(28699943_?)del
|
|
|
NC_000022.11:g.(?_28699838)_(28703566_?)del
|
|
|
NC_000022.11:g.(?_28703495)_(28703576_?)del
|
|
|
NC_000022.11:g.(?_28703505)_(28703566_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28710069_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)del
|
|
|
NC_000022.11:g.(?_28709996)_(28712027_?)dup
|
|
|
NC_000022.11:g.(?_28709996)_(28725377_?)dup
|
|
|
NC_000022.11:g.(?_28709996)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28710000)_(28712023_?)del
|
|
|
NC_000022.11:g.(?_28710006)_(28719485_?)del
|
|
|
NC_000022.11:g.(?_28711899)_(28712027_?)del
|
|
|
NC_000022.11:g.(?_28719385)_(28725377_?)dup
|
|
|
NC_000022.11:g.(?_28719385)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28719385)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28725377_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28724967)_(28734731_?)del
|
|
|
NC_000022.11:g.(?_28724977)_(28725367_?)del
|
|
|
NC_000022.11:g.(?_28725237)_(28725373_?)del
|
|
|
NC_000022.11:g.(?_28734393)_(28734725_?)del
|
|
|
NC_000022.11:g.(?_28734393)_(28734731_?)del
|
|
|
NC_000022.11:g.28710060del
|
|
|
NG_008150.2:g.(27473_34849)_(43363_46929)dup
|
|
|
NG_008150.2:g.14927_51132dup
|
|
|
NM_001349956.2(CHEK2):c.444+119del
|
|
|
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup
|
|
|
NM_007194.3(CHEK2):c.1462-?_1542+?del
|
|
|
NM_007194.3(CHEK2):c.320-?_*154+?dup
|
|
|
NM_007194.3(CHEK2):c.320-?_592+?dup273
|
|
|
NM_007194.3(CHEK2):c.593-?_*154dup1194
|
|
|
NM_007194.3(CHEK2):c.684-?_*154+?dup
|
|
|
NM_007194.3(CHEK2):c.686_688del
|
rs2053418933
|
|
NM_007194.3(CHEK2):c.909-?_1095+?del
|
|
|
NM_007194.3(CHEK2):c.909delG
|
rs1057517596
|
|
NM_007194.4(CHEK2):c.-6-2A>G
|
rs1555932985
|
|
NM_007194.4(CHEK2):c.-6-45_36del
|
|
|
NM_007194.4(CHEK2):c.-6-4T>C
|
|
|
NM_007194.4(CHEK2):c.-6-5_6del
|
|
|
NM_007194.4(CHEK2):c.-6_2delinsA (p.Met1fs)
|
|
|
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.1001C>T (p.Ala334Val)
|
|
|
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=)
|
rs1601738112
|
|
NM_007194.4(CHEK2):c.1002T>G (p.Ala334=)
|
rs1601738112
|
|
NM_007194.4(CHEK2):c.1003G>A (p.Val335Met)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1003G>T (p.Val335Leu)
|
rs563752762
|
|
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
|
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro)
|
rs1300388084
|
|
NM_007194.4(CHEK2):c.1007A>G (p.Gln336Arg)
|
rs1300388084
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
NM_007194.4(CHEK2):c.1008+10G>A
|
|
|
NM_007194.4(CHEK2):c.1008+14T>A
|
rs2145840964
|
|
NM_007194.4(CHEK2):c.1008+14T>C
|
|
|
NM_007194.4(CHEK2):c.1008+15C>G
|
rs1555915284
|
|
NM_007194.4(CHEK2):c.1008+16A>C
|
|
|
NM_007194.4(CHEK2):c.1008+16A>G
|
|
|
NM_007194.4(CHEK2):c.1008+16A>T
|
rs2145840930
|
|
NM_007194.4(CHEK2):c.1008+17A>C
|
|
|
NM_007194.4(CHEK2):c.1008+17A>G
|
rs1190548447
|
|
NM_007194.4(CHEK2):c.1008+1G>A
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>C
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+1G>T
|
rs1555915298
|
|
NM_007194.4(CHEK2):c.1008+20C>A
|
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1008+3dup
|
rs2145841181
|
|
NM_007194.4(CHEK2):c.1008+4A>G
|
rs2052755619
|
|
NM_007194.4(CHEK2):c.1008+7G>A
|
rs1365428441
|
|
NM_007194.4(CHEK2):c.1009-100_1095+3del
|
rs2145815434
|
|
NM_007194.4(CHEK2):c.1009-10T>G
|
rs1569116466
|
|
NM_007194.4(CHEK2):c.1009-1264C>G
|
|
|
NM_007194.4(CHEK2):c.1009-13C>G
|
rs2145818637
|
|
NM_007194.4(CHEK2):c.1009-13_1009-6del
|
rs2052616228
|
|
NM_007194.4(CHEK2):c.1009-14G>A
|
|
|
NM_007194.4(CHEK2):c.1009-14G>C
|
rs1172442364
|
|
NM_007194.4(CHEK2):c.1009-16C>A
|
rs751749563
|
|
NM_007194.4(CHEK2):c.1009-17C>T
|
rs2145818725
|
|
NM_007194.4(CHEK2):c.1009-18G>A
|
rs757393834
|
|
NM_007194.4(CHEK2):c.1009-18G>C
|
|
|
NM_007194.4(CHEK2):c.1009-19T>A
|
rs2145818760
|
|
NM_007194.4(CHEK2):c.1009-1G>A
|
rs1555914382
|
|
NM_007194.4(CHEK2):c.1009-1G>T
|
|
|
NM_007194.4(CHEK2):c.1009-2A>C
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>G
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2A>T
|
rs766158073
|
|
NM_007194.4(CHEK2):c.1009-2_1011del
|
|
|
NM_007194.4(CHEK2):c.1009-3T>G
|
rs2145818421
|
|
NM_007194.4(CHEK2):c.1009-3del
|
rs1555914390
|
|
NM_007194.4(CHEK2):c.1009-5T>A
|
rs1555914393
|
|
NM_007194.4(CHEK2):c.1009-5T>C
|
|
|
NM_007194.4(CHEK2):c.1009-5T>G
|
|
|
NM_007194.4(CHEK2):c.1009-8C>T
|
|
|
NM_007194.4(CHEK2):c.1009T>C (p.Tyr337His)
|
rs2052615357
|
|
NM_007194.4(CHEK2):c.1009T>G (p.Tyr337Asp)
|
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
NM_007194.4(CHEK2):c.1010A>G (p.Tyr337Cys)
|
rs1555914376
|
|
NM_007194.4(CHEK2):c.1012C>G (p.Leu338Val)
|
rs587782441
|
|
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.1014_1015delinsGT (p.His339Tyr)
|
|
|
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs)
|
rs2145817523
|
|
NM_007194.4(CHEK2):c.1015C>A (p.His339Asn)
|
rs371207635
|
|
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr)
|
rs371207635
|
|
NM_007194.4(CHEK2):c.1016A>C (p.His339Pro)
|
rs1555914365
|
|
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg)
|
rs1555914365
|
|
NM_007194.4(CHEK2):c.1016A>T (p.His339Leu)
|
rs1555914365
|
|
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln)
|
rs2052614326
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)
|
rs1601727263
|
|
NM_007194.4(CHEK2):c.101A>G (p.Gln34Arg)
|
rs2146152117
|
|
NM_007194.4(CHEK2):c.1021A>C (p.Asn341His)
|
rs2145817987
|
|
NM_007194.4(CHEK2):c.1021A>G (p.Asn341Asp)
|
rs2145817987
|
|
NM_007194.4(CHEK2):c.1022A>G (p.Asn341Ser)
|
rs773846607
|
|
NM_007194.4(CHEK2):c.1022del (p.Asn341fs)
|
rs1569116316
|
|
NM_007194.4(CHEK2):c.1024_1032dup (p.Ile344_His345insGlyIleIle)
|
|
|
NM_007194.4(CHEK2):c.1025G>A (p.Gly342Asp)
|
rs1555914358
|
|
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val)
|
rs1555914358
|
|
NM_007194.4(CHEK2):c.1025del (p.Gly342fs)
|
|
|
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.1029T>G (p.Ile343Met)
|
rs2145817747
|
|
NM_007194.4(CHEK2):c.1030del (p.Ile344fs)
|
rs2145817725
|
|
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr)
|
rs1569116223
|
|
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=)
|
rs202051128
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
|
NM_007194.4(CHEK2):c.1034A>C (p.His345Pro)
|
rs1555914342
|
|
NM_007194.4(CHEK2):c.1034A>G (p.His345Arg)
|
rs1555914342
|
|
NM_007194.4(CHEK2):c.1034A>T (p.His345Leu)
|
rs1555914342
|
|
NM_007194.4(CHEK2):c.1035C>A (p.His345Gln)
|
rs756520206
|
|
NM_007194.4(CHEK2):c.1036C>A (p.Arg346Ser)
|
rs201206424
|
|
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly)
|
rs201206424
|
|
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
|
|
|
NM_007194.4(CHEK2):c.1037G>C (p.Arg346Pro)
|
rs730881688
|
|
NM_007194.4(CHEK2):c.1038T>C (p.Arg346=)
|
rs1555914324
|
|
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
|
|
|
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala)
|
rs786202676
|
|
NM_007194.4(CHEK2):c.1040A>G (p.Asp347Gly)
|
|
|
NM_007194.4(CHEK2):c.1041C>G (p.Asp347Glu)
|
|
|
NM_007194.4(CHEK2):c.1041C>T (p.Asp347=)
|
|
|
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1044A>T (p.Leu348Phe)
|
|
|
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu)
|
rs730881689
|
|
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs)
|
rs2145817185
|
|
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala)
|
rs876659406
|
|
NM_007194.4(CHEK2):c.1048C>T (p.Pro350Ser)
|
rs876659406
|
|
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
|
|
|
NM_007194.4(CHEK2):c.1049C>T (p.Pro350Leu)
|
|
|
NM_007194.4(CHEK2):c.1049del (p.Pro350fs)
|
rs1601727022
|
|
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe)
|
rs786203185
|
|
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=)
|
rs1555914312
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys)
|
rs1555914308
|
|
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln)
|
rs1555914308
|
|
NM_007194.4(CHEK2):c.1052A>G (p.Glu351Gly)
|
rs786202893
|
|
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.1054A>C (p.Asn352His)
|
rs1361935182
|
|
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr)
|
rs1361935182
|
|
NM_007194.4(CHEK2):c.1055A>C (p.Asn352Thr)
|
|
|
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser)
|
rs764181318
|
|
NM_007194.4(CHEK2):c.1056T>A (p.Asn352Lys)
|
rs1060502709
|
|
NM_007194.4(CHEK2):c.1056T>G (p.Asn352Lys)
|
rs1060502709
|
|
NM_007194.4(CHEK2):c.1058T>A (p.Val353Asp)
|
rs758434121
|
|
NM_007194.4(CHEK2):c.1058T>C (p.Val353Ala)
|
rs758434121
|
|
NM_007194.4(CHEK2):c.1059T>C (p.Val353=)
|
rs2145816648
|
|
NM_007194.4(CHEK2):c.1059_1064del (p.Leu354_Leu355del)
|
|
|
NM_007194.4(CHEK2):c.105C>T (p.Ser35=)
|
rs1057521541
|
|
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter)
|
rs2145816590
|
|
NM_007194.4(CHEK2):c.1061T>C (p.Leu354Ser)
|
|
|
NM_007194.4(CHEK2):c.1062A>C (p.Leu354Phe)
|
rs1427613188
|
|
NM_007194.4(CHEK2):c.1062A>G (p.Leu354=)
|
|
|
NM_007194.4(CHEK2):c.1063C>G (p.Leu355Val)
|
rs786201130
|
|
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=)
|
rs786201130
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro)
|
rs2052608641
|
|
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
|
|
|
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro)
|
rs2052608443
|
|
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter)
|
rs121908703
|
|
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer)
|
rs2145816053
|
|
NM_007194.4(CHEK2):c.1068A>T (p.Ser356=)
|
|
|
NM_007194.4(CHEK2):c.1069T>A (p.Ser357Thr)
|
|
|
NM_007194.4(CHEK2):c.1069T>C (p.Ser357Pro)
|
rs2052608225
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1070C>G (p.Ser357Cys)
|
rs765425451
|
|
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.1073A>G (p.Gln358Arg)
|
rs2145816153
|
|
NM_007194.4(CHEK2):c.1074A>C (p.Gln358His)
|
rs2052607496
|
|
NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys)
|
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
|
|
|
NM_007194.4(CHEK2):c.1077A>G (p.Glu359=)
|
|
|
NM_007194.4(CHEK2):c.1077del (p.Glu360fs)
|
rs2145816035
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1079A>T (p.Glu360Val)
|
rs2052606933
|
|
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
|
|
|
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=)
|
rs1601726685
|
|
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr)
|
rs199859140
|
|
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr)
|
rs767306337
|
|
NM_007194.4(CHEK2):c.1085G>T (p.Cys362Phe)
|
rs767306337
|
|
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
|
|
|
NM_007194.4(CHEK2):c.1087C>T (p.Leu363Phe)
|
rs1569115748
|
|
NM_007194.4(CHEK2):c.1088T>A (p.Leu363His)
|
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
NM_007194.4(CHEK2):c.108G>A (p.Gln36=)
|
rs876660021
|
|
NM_007194.4(CHEK2):c.1091T>A (p.Ile364Lys)
|
rs774179198
|
|
NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu)
|
rs876659921
|
|
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs)
|
rs2145815556
|
|
NM_007194.4(CHEK2):c.1094A>C (p.Lys365Thr)
|
rs1555914237
|
|
NM_007194.4(CHEK2):c.1094A>G (p.Lys365Arg)
|
|
|
NM_007194.4(CHEK2):c.1094_1095+4del
|
|
|
NM_007194.4(CHEK2):c.1094_1095inv (p.Lys365Thr)
|
|
|
NM_007194.4(CHEK2):c.1095+12G>A
|
rs762414562
|
|
NM_007194.4(CHEK2):c.1095+12G>T
|
rs762414562
|
|
NM_007194.4(CHEK2):c.1095+13C>T
|
|
|
NM_007194.4(CHEK2):c.1095+14A>G
|
|
|
NM_007194.4(CHEK2):c.1095+14A>T
|
rs2145815197
|
|
NM_007194.4(CHEK2):c.1095+19G>C
|
rs200020484
|
|
NM_007194.4(CHEK2):c.1095+1G>A
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1G>C
|
|
|
NM_007194.4(CHEK2):c.1095+1G>T
|
rs768172525
|
|
NM_007194.4(CHEK2):c.1095+1dup
|
|
|
NM_007194.4(CHEK2):c.1095+2T>A
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>C
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+2T>G
|
rs1569115687
|
|
NM_007194.4(CHEK2):c.1095+3A>G
|
rs1601726484
|
|
NM_007194.4(CHEK2):c.1095+3A>T
|
rs1601726484
|
|
NM_007194.4(CHEK2):c.1095+5G>C
|
rs1601726470
|
|
NM_007194.4(CHEK2):c.1095+5_1095+6del
|
rs1601726457
|
|
NM_007194.4(CHEK2):c.1095+9T>A
|
|
|
NM_007194.4(CHEK2):c.1095G>A (p.Lys365=)
|
rs1601726502
|
|
NM_007194.4(CHEK2):c.1095G>T (p.Lys365Asn)
|
rs1601726502
|
|
NM_007194.4(CHEK2):c.1096-10T>A
|
rs1555913946
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
NM_007194.4(CHEK2):c.1096-10T>G
|
rs1555913946
|
|
NM_007194.4(CHEK2):c.1096-15_1096-14insA
|
|
|
NM_007194.4(CHEK2):c.1096-17T>C
|
|
|
NM_007194.4(CHEK2):c.1096-1G>A
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1096-1_1096delinsCG
|
|
|
NM_007194.4(CHEK2):c.1096-2A>C
|
|
|
NM_007194.4(CHEK2):c.1096-2A>G
|
rs2145807398
|
|
NM_007194.4(CHEK2):c.1096-3T>G
|
|
|
NM_007194.4(CHEK2):c.1096-3_1096-1delinsAA
|
|
|
NM_007194.4(CHEK2):c.1096-7A>C
|
rs2052567957
|
|
NM_007194.4(CHEK2):c.1096-7A>G
|
rs2052567957
|
|
NM_007194.4(CHEK2):c.1096-8A>T
|
|
|
NM_007194.4(CHEK2):c.1096A>G (p.Ile366Val)
|
rs1601723767
|
|
NM_007194.4(CHEK2):c.1096A>T (p.Ile366Phe)
|
rs1601723767
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn)
|
rs786202147
|
|
NM_007194.4(CHEK2):c.1097T>C (p.Ile366Thr)
|
rs786202147
|
|
NM_007194.4(CHEK2):c.1097T>G (p.Ile366Ser)
|
rs786202147
|
|
NM_007194.4(CHEK2):c.1098T>C (p.Ile366=)
|
rs876659635
|
|
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs)
|
rs2145806928
|
|
NM_007194.4(CHEK2):c.109G>A (p.Gly37Ser)
|
rs2054329987
|
|
NM_007194.4(CHEK2):c.109G>C (p.Gly37Arg)
|
rs2054329987
|
|
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs)
|
rs1555932583
|
|
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys)
|
rs1555932959
|
|
NM_007194.4(CHEK2):c.1100C>G (p.Thr367Ser)
|
rs878854910
|
|
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)
|
rs755127902
|
|
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly)
|
rs1555913929
|
|
NM_007194.4(CHEK2):c.1104T>A (p.Asp368Glu)
|
rs1601723630
|
|
NM_007194.4(CHEK2):c.1105T>A (p.Phe369Ile)
|
|
|
NM_007194.4(CHEK2):c.1106T>C (p.Phe369Ser)
|
rs2145806968
|
|
NM_007194.4(CHEK2):c.1107T>G (p.Phe369Leu)
|
rs1555913927
|
|
NM_007194.4(CHEK2):c.1108G>A (p.Gly370Arg)
|
rs1555913924
|
|
NM_007194.4(CHEK2):c.1108G>C (p.Gly370Arg)
|
rs1555913924
|
|
NM_007194.4(CHEK2):c.1108G>T (p.Gly370Trp)
|
|
|
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu)
|
rs587780166
|
|
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala)
|
rs587780166
|
|
NM_007194.4(CHEK2):c.1109G>T (p.Gly370Val)
|
rs587780166
|
|
NM_007194.4(CHEK2):c.110G>T (p.Gly37Val)
|
rs764750609
|
|
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_1127del (p.His371fs)
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1112A>C (p.His371Pro)
|
rs1601723545
|
|
NM_007194.4(CHEK2):c.1112A>G (p.His371Arg)
|
rs1601723545
|
|
NM_007194.4(CHEK2):c.1113C>G (p.His371Gln)
|
rs876659094
|
|
NM_007194.4(CHEK2):c.1113C>T (p.His371=)
|
rs876659094
|
|
NM_007194.4(CHEK2):c.1114T>C (p.Ser372Pro)
|
rs1555913901
|
|
NM_007194.4(CHEK2):c.1114T>G (p.Ser372Ala)
|
rs1555913901
|
|
NM_007194.4(CHEK2):c.1115C>A (p.Ser372Tyr)
|
rs147877722
|
|
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.1116C>A (p.Ser372=)
|
rs79357544
|
|
NM_007194.4(CHEK2):c.1116_1136del (p.Lys373_Ser379del)
|
|
|
NM_007194.4(CHEK2):c.1116del (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg)
|
rs786202446
|
|
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs)
|
rs2052564279
|
|
NM_007194.4(CHEK2):c.1121T>C (p.Ile374Thr)
|
rs2145806352
|
|
NM_007194.4(CHEK2):c.1122T>A (p.Ile374=)
|
rs2145806315
|
|
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs)
|
rs2145806264
|
|
NM_007194.4(CHEK2):c.1125G>C (p.Leu375Phe)
|
rs2145806184
|
|
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
|
|
|
NM_007194.4(CHEK2):c.1127G>A (p.Gly376Glu)
|
rs1601723393
|
|
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
|
|
|
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=)
|
rs1555913880
|
|
NM_007194.4(CHEK2):c.1128del (p.Glu377fs)
|
rs1555913881
|
|
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)
|
rs774192195
|
|
NM_007194.4(CHEK2):c.1131G>C (p.Glu377Asp)
|
rs2052563481
|
|
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
|
|
|
NM_007194.4(CHEK2):c.1132A>G (p.Thr378Ala)
|
|
|
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.1134C>T (p.Thr378=)
|
rs876658880
|
|
NM_007194.4(CHEK2):c.1134del (p.Ser379fs)
|
rs1569114113
|
|
NM_007194.4(CHEK2):c.1135T>C (p.Ser379Pro)
|
rs2052562867
|
|
NM_007194.4(CHEK2):c.1135T>G (p.Ser379Ala)
|
rs2052562867
|
|
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys)
|
rs267606211
|
|
NM_007194.4(CHEK2):c.1136C>T (p.Ser379Phe)
|
rs267606211
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
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.1141A>C (p.Met381Leu)
|
rs375130261
|
|
NM_007194.4(CHEK2):c.1141A>T (p.Met381Leu)
|
rs375130261
|
|
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr)
|
rs1569114039
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
NM_007194.4(CHEK2):c.1143G>A (p.Met381Ile)
|
rs1601723143
|
|
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)
|
rs769439021
|
|
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)
|
rs202089930
|
|
NM_007194.4(CHEK2):c.1148C>T (p.Thr383Ile)
|
rs202089930
|
|
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=)
|
rs1555913842
|
|
NM_007194.4(CHEK2):c.1149C>T (p.Thr383=)
|
rs1555913842
|
|
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=)
|
rs1060502715
|
|
NM_007194.4(CHEK2):c.1152A>T (p.Leu384Phe)
|
rs1060502715
|
|
NM_007194.4(CHEK2):c.1153T>G (p.Cys385Gly)
|
rs587782817
|
|
NM_007194.4(CHEK2):c.1154G>C (p.Cys385Ser)
|
rs145324174
|
|
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter)
|
rs2145805017
|
|
NM_007194.4(CHEK2):c.1156G>A (p.Gly386Arg)
|
rs1601722994
|
|
NM_007194.4(CHEK2):c.1157G>A (p.Gly386Glu)
|
rs1555913820
|
|
NM_007194.4(CHEK2):c.1157G>C (p.Gly386Ala)
|
rs1555913820
|
|
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val)
|
rs1555913820
|
|
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)
|
rs771387164
|
|
NM_007194.4(CHEK2):c.1159A>T (p.Thr387Ser)
|
rs771387164
|
|
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
|
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn)
|
rs587780168
|
|
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile)
|
rs587780168
|
|
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=)
|
rs1601722925
|
|
NM_007194.4(CHEK2):c.1161C>T (p.Thr387=)
|
rs1601722925
|
|
NM_007194.4(CHEK2):c.1162C>G (p.Pro388Ala)
|
rs1555913811
|
|
NM_007194.4(CHEK2):c.1162C>T (p.Pro388Ser)
|
rs1555913811
|
|
NM_007194.4(CHEK2):c.1163C>G (p.Pro388Arg)
|
rs1601722891
|
|
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=)
|
rs878854911
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1165A>G (p.Thr389Ala)
|
|
|
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile)
|
rs2145804544
|
|
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=)
|
rs1314236188
|
|
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
|
|
|
NM_007194.4(CHEK2):c.1168T>A (p.Tyr390Asn)
|
rs2052558996
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.1169A>T (p.Tyr390Phe)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.116C>A (p.Ser39Tyr)
|
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.1170C>T (p.Tyr390=)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.1170del (p.Leu391fs)
|
rs2145804427
|
|
NM_007194.4(CHEK2):c.1173G>A (p.Leu391=)
|
rs2145804298
|
|
NM_007194.4(CHEK2):c.1174G>A (p.Ala392Thr)
|
rs587782184
|
|
NM_007194.4(CHEK2):c.1175C>A (p.Ala392Glu)
|
rs373073383
|
|
NM_007194.4(CHEK2):c.1176G>C (p.Ala392=)
|
|
|
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=)
|
rs142692907
|
|
NM_007194.4(CHEK2):c.1177C>T (p.Pro393Ser)
|
rs2052558087
|
|
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg)
|
rs730881690
|
|
NM_007194.4(CHEK2):c.1179T>C (p.Pro393=)
|
|
|
NM_007194.4(CHEK2):c.117C>T (p.Ser39=)
|
|
|
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
|
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp)
|
rs2052557170
|
|
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1184T>A (p.Val395Asp)
|
rs1555913769
|
|
NM_007194.4(CHEK2):c.1184T>C (p.Val395Ala)
|
rs1555913769
|
|
NM_007194.4(CHEK2):c.1184T>G (p.Val395Gly)
|
rs1555913769
|
|
NM_007194.4(CHEK2):c.1185T>G (p.Val395=)
|
rs2145803865
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1189G>A (p.Val397Ile)
|
|
|
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly)
|
rs1601853229
|
|
NM_007194.4(CHEK2):c.118_119delinsCC (p.Ser40Pro)
|
rs1569171216
|
|
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs)
|
rs1569171106
|
|
NM_007194.4(CHEK2):c.1192T>C (p.Ser398Pro)
|
|
|
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
|
|
|
NM_007194.4(CHEK2):c.1193C>G (p.Ser398Cys)
|
|
|
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
|
|
|
NM_007194.4(CHEK2):c.1193del (p.Ser398fs)
|
rs2052556835
|
|
NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe)
|
rs876658682
|
|
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly)
|
rs527878975
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1199G>A (p.Gly400Glu)
|
rs1476312560
|
|
NM_007194.4(CHEK2):c.119G>C (p.Ser40Thr)
|
rs1060502686
|
|
NM_007194.4(CHEK2):c.1200G>A (p.Gly400=)
|
rs876659590
|
|
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs)
|
rs2145803112
|
|
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser)
|
rs1601722432
|
|
NM_007194.4(CHEK2):c.1203T>A (p.Thr401=)
|
rs560781587
|
|
NM_007194.4(CHEK2):c.1203T>G (p.Thr401=)
|
|
|
NM_007194.4(CHEK2):c.1204G>T (p.Ala402Ser)
|
rs758206293
|
|
NM_007194.4(CHEK2):c.1205C>G (p.Ala402Gly)
|
rs1175088679
|
|
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val)
|
rs1175088679
|
|
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)
|
rs1555913720
|
|
NM_007194.4(CHEK2):c.1207G>A (p.Gly403Arg)
|
rs1601722357
|
|
NM_007194.4(CHEK2):c.1207G>C (p.Gly403Arg)
|
|
|
NM_007194.4(CHEK2):c.1207G>T (p.Gly403Trp)
|
|
|
NM_007194.4(CHEK2):c.1208G>A (p.Gly403Glu)
|
rs1435731482
|
|
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val)
|
rs1435731482
|
|
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=)
|
rs1350419049
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del)
|
rs1294840272
|
|
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn)
|
rs1555913715
|
|
NM_007194.4(CHEK2):c.1210T>C (p.Tyr404His)
|
rs1555913715
|
|
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs)
|
rs2052554226
|
|
NM_007194.4(CHEK2):c.1210_1216dup (p.Arg406delinsLeuTer)
|
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
NM_007194.4(CHEK2):c.1210del (p.Tyr404fs)
|
|
|
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
|
|
|
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)
|
rs1060502707
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
NM_007194.4(CHEK2):c.1213A>G (p.Asn405Asp)
|
|
|
NM_007194.4(CHEK2):c.1213A>T (p.Asn405Tyr)
|
rs2145802765
|
|
NM_007194.4(CHEK2):c.1214A>T (p.Asn405Ile)
|
rs369070738
|
|
NM_007194.4(CHEK2):c.1215C>T (p.Asn405=)
|
rs587780171
|
|
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>A (p.Ala407Thr)
|
|
|
NM_007194.4(CHEK2):c.1219G>C (p.Ala407Pro)
|
|
|
NM_007194.4(CHEK2):c.1220C>T (p.Ala407Val)
|
rs876660527
|
|
NM_007194.4(CHEK2):c.1222G>A (p.Val408Met)
|
rs1555913700
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
NM_007194.4(CHEK2):c.1223T>C (p.Val408Ala)
|
|
|
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn)
|
rs766191039
|
|
NM_007194.4(CHEK2):c.1227C>A (p.Asp409Glu)
|
|
|
NM_007194.4(CHEK2):c.1227C>G (p.Asp409Glu)
|
|
|
NM_007194.4(CHEK2):c.1227C>T (p.Asp409=)
|
rs2145802224
|
|
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del)
|
rs2052551741
|
|
NM_007194.4(CHEK2):c.1228T>C (p.Cys410Arg)
|
rs1555913689
|
|
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly)
|
rs1555913689
|
|
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe)
|
rs121908694
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1231T>C (p.Trp411Arg)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly)
|
rs587780172
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg)
|
rs2052550972
|
|
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn)
|
rs1555913662
|
|
NM_007194.4(CHEK2):c.1236T>G (p.Ser412Arg)
|
rs1601722002
|
|
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
|
|
|
NM_007194.4(CHEK2):c.1238T>C (p.Leu413Ser)
|
rs1248967885
|
|
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=)
|
|
|
NM_007194.4(CHEK2):c.1239del (p.Gly414fs)
|
|
|
NM_007194.4(CHEK2):c.123del (p.Ser42fs)
|
|
|
NM_007194.4(CHEK2):c.1240G>A (p.Gly414Arg)
|
rs878854913
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
NM_007194.4(CHEK2):c.1241G>A (p.Gly414Glu)
|
rs1601721915
|
|
NM_007194.4(CHEK2):c.1241G>C (p.Gly414Ala)
|
|
|
NM_007194.4(CHEK2):c.1241G>T (p.Gly414Val)
|
|
|
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1243G>T (p.Val415Phe)
|
rs1601721900
|
|
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp)
|
rs748555394
|
|
NM_007194.4(CHEK2):c.1246A>C (p.Ile416Leu)
|
|
|
NM_007194.4(CHEK2):c.1246A>T (p.Ile416Phe)
|
rs1601721850
|
|
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del)
|
rs760118917
|
|
NM_007194.4(CHEK2):c.1246del (p.Ile416fs)
|
rs2145801378
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr)
|
rs1555913642
|
|
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=)
|
rs1601721811
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
NM_007194.4(CHEK2):c.1249C>A (p.Leu417Ile)
|
|
|
NM_007194.4(CHEK2):c.1249C>G (p.Leu417Val)
|
rs2052548069
|
|
NM_007194.4(CHEK2):c.1249C>T (p.Leu417Phe)
|
rs2052548069
|
|
NM_007194.4(CHEK2):c.124T>A (p.Ser42Thr)
|
rs1569171191
|
|
NM_007194.4(CHEK2):c.1250T>A (p.Leu417His)
|
|
|
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro)
|
rs1569113171
|
|
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
|
|
|
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu)
|
rs1064793737
|
|
NM_007194.4(CHEK2):c.1253T>C (p.Phe418Ser)
|
rs2052547427
|
|
NM_007194.4(CHEK2):c.1253T>G (p.Phe418Cys)
|
rs2052547427
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu)
|
rs774870353
|
|
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val)
|
rs1569113123
|
|
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr)
|
rs1601721712
|
|
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser)
|
rs1601721712
|
|
NM_007194.4(CHEK2):c.1257C>A (p.Ile419=)
|
|
|
NM_007194.4(CHEK2):c.1258T>C (p.Cys420Arg)
|
rs2145800838
|
|
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
|
|
|
NM_007194.4(CHEK2):c.1259+10A>G
|
rs2145800586
|
|
NM_007194.4(CHEK2):c.1259+11T>C
|
|
|
NM_007194.4(CHEK2):c.1259+14T>C
|
rs780245762
|
|
NM_007194.4(CHEK2):c.1259+17T>A
|
|
|
NM_007194.4(CHEK2):c.1259+18T>G
|
|
|
NM_007194.4(CHEK2):c.1259+19G>C
|
|
|
NM_007194.4(CHEK2):c.1259+19_1259+20insAAGAAATATTTTCATTGGGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>C
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+1G>T
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1259+2T>A
|
|
|
NM_007194.4(CHEK2):c.1259+2T>C
|
rs1555913631
|
|
NM_007194.4(CHEK2):c.1259+2del
|
rs1555913632
|
|
NM_007194.4(CHEK2):c.1259+3A>C
|
rs768691252
|
|
NM_007194.4(CHEK2):c.1259+3A>T
|
|
|
NM_007194.4(CHEK2):c.1259+5G>A
|
rs1555913629
|
|
NM_007194.4(CHEK2):c.1259+7A>G
|
rs1057523752
|
|
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe)
|
rs578218280
|
|
NM_007194.4(CHEK2):c.125C>G (p.Ser42Cys)
|
rs1483975421
|
|
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
|
|
|
NM_007194.4(CHEK2):c.1260-10C>T
|
|
|
NM_007194.4(CHEK2):c.1260-14C>G
|
|
|
NM_007194.4(CHEK2):c.1260-15T>G
|
rs1569112557
|
|
NM_007194.4(CHEK2):c.1260-17T>C
|
rs2145796544
|
|
NM_007194.4(CHEK2):c.1260-18C>G
|
rs1057521375
|
|
NM_007194.4(CHEK2):c.1260-19T>C
|
rs2145796574
|
|
NM_007194.4(CHEK2):c.1260-1G>T
|
rs786201906
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
NM_007194.4(CHEK2):c.1260-24_1263del
|
rs1601720308
|
|
NM_007194.4(CHEK2):c.1260-4T>G
|
rs1064793337
|
|
NM_007194.4(CHEK2):c.1260-5T>C
|
rs2052526695
|
|
NM_007194.4(CHEK2):c.1260-5T>G
|
rs2052526695
|
|
NM_007194.4(CHEK2):c.1260-6A>G
|
rs767735261
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
NM_007194.4(CHEK2):c.1260-9A>G
|
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
NM_007194.4(CHEK2):c.1260C>G (p.Cys420Trp)
|
rs762205611
|
|
NM_007194.4(CHEK2):c.1260C>T (p.Cys420=)
|
|
|
NM_007194.4(CHEK2):c.1261C>T (p.Leu421Phe)
|
rs1060502699
|
|
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His)
|
rs1060502714
|
|
NM_007194.4(CHEK2):c.1262T>C (p.Leu421Pro)
|
rs1060502714
|
|
NM_007194.4(CHEK2):c.1263T>C (p.Leu421=)
|
rs2052525259
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1264A>C (p.Ser422Arg)
|
rs2052525092
|
|
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs)
|
rs2145796040
|
|
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr)
|
rs549755590
|
|
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
|
|
|
NM_007194.4(CHEK2):c.1266T>A (p.Ser422Arg)
|
rs1483964791
|
|
NM_007194.4(CHEK2):c.1266T>G (p.Ser422Arg)
|
|
|
NM_007194.4(CHEK2):c.1267G>A (p.Gly423Arg)
|
rs730881691
|
|
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.1268G>C (p.Gly423Ala)
|
|
|
NM_007194.4(CHEK2):c.1268G>T (p.Gly423Val)
|
|
|
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)
|
rs749368980
|
|
NM_007194.4(CHEK2):c.126T>A (p.Ser42=)
|
rs1601853112
|
|
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
|
|
|
NM_007194.4(CHEK2):c.1271A>G (p.Tyr424Cys)
|
rs2145795779
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=)
|
rs1257494163
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu)
|
rs1555913537
|
|
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1275A>G (p.Pro425=)
|
rs28601856
|
|
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1276C>G (p.Pro426Ala)
|
rs1555913523
|
|
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)
|
rs1555913523
|
|
NM_007194.4(CHEK2):c.1277C>G (p.Pro426Arg)
|
rs769933461
|
|
NM_007194.4(CHEK2):c.1277C>T (p.Pro426Leu)
|
rs769933461
|
|
NM_007194.4(CHEK2):c.1278T>G (p.Pro426=)
|
rs1060504689
|
|
NM_007194.4(CHEK2):c.1279T>A (p.Phe427Ile)
|
rs2145795572
|
|
NM_007194.4(CHEK2):c.1279T>G (p.Phe427Val)
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1280T>A (p.Phe427Tyr)
|
rs1601720056
|
|
NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser)
|
rs1601720056
|
|
NM_007194.4(CHEK2):c.1280T>G (p.Phe427Cys)
|
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys)
|
rs1064795041
|
|
NM_007194.4(CHEK2):c.1286A>G (p.Glu429Gly)
|
rs587782299
|
|
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr)
|
rs1601719955
|
|
NM_007194.4(CHEK2):c.1289A>G (p.His430Arg)
|
|
|
NM_007194.4(CHEK2):c.128C>A (p.Thr43Asn)
|
rs2054327963
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met)
|
rs1555913504
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
NM_007194.4(CHEK2):c.1294A>C (p.Thr432Pro)
|
rs2145795088
|
|
NM_007194.4(CHEK2):c.1296T>C (p.Thr432=)
|
rs2145795034
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
NM_007194.4(CHEK2):c.1299_1300delinsGT (p.Val434Leu)
|
rs2145794938
|
|
NM_007194.4(CHEK2):c.129C>A (p.Thr43=)
|
rs786202779
|
|
NM_007194.4(CHEK2):c.129C>G (p.Thr43=)
|
rs786202779
|
|
NM_007194.4(CHEK2):c.129C>T (p.Thr43=)
|
rs786202779
|
|
NM_007194.4(CHEK2):c.129del (p.Ser44fs)
|
|
|
NM_007194.4(CHEK2):c.12G>A (p.Glu4=)
|
rs1213043094
|
|
NM_007194.4(CHEK2):c.12G>T (p.Glu4Asp)
|
|
|
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met)
|
rs876660323
|
|
NM_007194.4(CHEK2):c.1302G>A (p.Val434=)
|
rs1060504693
|
|
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
|
|
|
NM_007194.4(CHEK2):c.1304C>T (p.Ser435Leu)
|
rs1555913484
|
|
NM_007194.4(CHEK2):c.1305A>G (p.Ser435=)
|
|
|
NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met)
|
rs17882922
|
|
NM_007194.4(CHEK2):c.1306C>T (p.Leu436=)
|
rs17882922
|
|
NM_007194.4(CHEK2):c.1306_1307delinsAC (p.Leu436Thr)
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg)
|
rs878854914
|
|
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=)
|
rs2145794670
|
|
NM_007194.4(CHEK2):c.1312G>A (p.Asp438Asn)
|
rs200050883
|
|
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His)
|
rs200050883
|
|
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
|
|
|
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly)
|
rs1569112074
|
|
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val)
|
rs1569112074
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
NM_007194.4(CHEK2):c.1315C>A (p.Gln439Lys)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1316A>C (p.Gln439Pro)
|
|
|
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His)
|
rs878854915
|
|
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu)
|
rs587780176
|
|
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
|
|
|
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr)
|
rs1569171123
|
|
NM_007194.4(CHEK2):c.1320C>T (p.Ile440=)
|
rs1555913469
|
|
NM_007194.4(CHEK2):c.1321A>C (p.Thr441Pro)
|
rs876660046
|
|
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
|
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
|
|
|
NM_007194.4(CHEK2):c.1324del (p.Ser442fs)
|
rs2145794195
|
|
NM_007194.4(CHEK2):c.1325G>C (p.Ser442Thr)
|
|
|
NM_007194.4(CHEK2):c.1325_1336del (p.Ser442_Tyr445del)
|
rs1601719464
|
|
NM_007194.4(CHEK2):c.1326T>C (p.Ser442=)
|
rs2145794117
|
|
NM_007194.4(CHEK2):c.1327G>A (p.Gly443Arg)
|
|
|
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
|
|
|
NM_007194.4(CHEK2):c.1328G>A (p.Gly443Glu)
|
rs2145794064
|
|
NM_007194.4(CHEK2):c.1328G>T (p.Gly443Val)
|
|
|
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg)
|
rs1555913454
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
NM_007194.4(CHEK2):c.1334A>G (p.Tyr445Cys)
|
rs778246892
|
|
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter)
|
rs1214213337
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
|
|
|
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1335_1336del (p.Tyr445_Asn446delinsTer)
|
|
|
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)
|
rs1601719449
|
|
NM_007194.4(CHEK2):c.1335_1342del (p.Asn446fs)
|
|
|
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
|
|
|
NM_007194.4(CHEK2):c.1337A>G (p.Asn446Ser)
|
rs2052517802
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu)
|
rs17881473
|
|
NM_007194.4(CHEK2):c.133A>G (p.Thr45Ala)
|
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)
|
rs876660373
|
|
NM_007194.4(CHEK2):c.1341del (p.Phe447fs)
|
rs2145793726
|
|
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val)
|
rs750012749
|
|
NM_007194.4(CHEK2):c.1342_1356del (p.Ile448_Trp452del)
|
|
|
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs)
|
rs2145793644
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr)
|
rs1555913437
|
|
NM_007194.4(CHEK2):c.1346C>T (p.Pro449Leu)
|
rs2145793532
|
|
NM_007194.4(CHEK2):c.1347T>C (p.Pro449=)
|
rs1294969715
|
|
NM_007194.4(CHEK2):c.1347del (p.Glu450fs)
|
rs1601719287
|
|
NM_007194.4(CHEK2):c.1348G>C (p.Glu450Gln)
|
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
|
|
|
NM_007194.4(CHEK2):c.1349A>C (p.Glu450Ala)
|
rs2145793434
|
|
NM_007194.4(CHEK2):c.134C>G (p.Thr45Arg)
|
rs558321010
|
|
NM_007194.4(CHEK2):c.1350A>C (p.Glu450Asp)
|
|
|
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
|
|
|
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp)
|
rs139088611
|
|
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg)
|
rs764449869
|
|
NM_007194.4(CHEK2):c.1354T>G (p.Trp452Gly)
|
rs764449869
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1359A>C (p.Ala453=)
|
rs1555913419
|
|
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.1360_1361del (p.Glu454fs)
|
rs2052514918
|
|
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs)
|
rs2145793110
|
|
NM_007194.4(CHEK2):c.1361A>C (p.Glu454Ala)
|
rs1233346197
|
|
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)
|
rs1569111699
|
|
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=)
|
rs1057520523
|
|
NM_007194.4(CHEK2):c.1362del (p.Val455fs)
|
rs2145793028
|
|
NM_007194.4(CHEK2):c.1363G>T (p.Val455Phe)
|
rs2052514206
|
|
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs)
|
rs2145792978
|
|
NM_007194.4(CHEK2):c.1365C>G (p.Val455=)
|
rs1287444894
|
|
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
|
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=)
|
rs1057523229
|
|
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
|
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
NM_007194.4(CHEK2):c.1374A>C (p.Lys458Asn)
|
rs776093527
|
|
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
|
|
|
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
|
|
|
NM_007194.4(CHEK2):c.1375+10T>A
|
|
|
NM_007194.4(CHEK2):c.1375+11G>A
|
rs1465649669
|
|
NM_007194.4(CHEK2):c.1375+15G>C
|
|
|
NM_007194.4(CHEK2):c.1375+16G>A
|
rs776700371
|
|
NM_007194.4(CHEK2):c.1375+17G>A
|
rs1257877166
|
|
NM_007194.4(CHEK2):c.1375+17del
|
rs1191159078
|
|
NM_007194.4(CHEK2):c.1375+18T>C
|
|
|
NM_007194.4(CHEK2):c.1375+19T>G
|
|
|
NM_007194.4(CHEK2):c.1375+1G>A
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>C
|
rs759706360
|
|
NM_007194.4(CHEK2):c.1375+1G>T
|
|
|
NM_007194.4(CHEK2):c.1375+1_1375+2del
|
rs876660801
|
|
NM_007194.4(CHEK2):c.1375+1del
|
|
|
NM_007194.4(CHEK2):c.1375+2T>C
|
rs1483241325
|
|
NM_007194.4(CHEK2):c.1375+2T>G
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+15del
|
|
|
NM_007194.4(CHEK2):c.1375+2_1375+3insTTCA
|
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
NM_007194.4(CHEK2):c.1375+7A>G
|
rs2052512171
|
|
NM_007194.4(CHEK2):c.1375+9A>G
|
rs2145792496
|
|
NM_007194.4(CHEK2):c.1375G>A (p.Ala459Thr)
|
rs769729382
|
|
NM_007194.4(CHEK2):c.1375G>T (p.Ala459Ser)
|
rs769729382
|
|
NM_007194.4(CHEK2):c.1376-11T>C
|
|
|
NM_007194.4(CHEK2):c.1376-13A>T
|
rs1064793330
|
|
NM_007194.4(CHEK2):c.1376-15C>G
|
rs2145786950
|
|
NM_007194.4(CHEK2):c.1376-16C>A
|
|
|
NM_007194.4(CHEK2):c.1376-16C>T
|
|
|
NM_007194.4(CHEK2):c.1376-17C>G
|
rs2145786984
|
|
NM_007194.4(CHEK2):c.1376-19T>C
|
rs2052474956
|
|
NM_007194.4(CHEK2):c.1376-1G>A
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-1G>C
|
rs876659287
|
|
NM_007194.4(CHEK2):c.1376-2A>G
|
rs2145786737
|
|
NM_007194.4(CHEK2):c.1376-4T>G
|
rs1601716727
|
|
NM_007194.4(CHEK2):c.1376-6C>T
|
rs2052474528
|
|
NM_007194.4(CHEK2):c.1376-8T>C
|
rs550845289
|
|
NM_007194.4(CHEK2):c.1376C>T (p.Ala459Val)
|
|
|
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=)
|
rs786201296
|
|
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val)
|
rs876659512
|
|
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
|
|
|
NM_007194.4(CHEK2):c.1379T>C (p.Leu460Pro)
|
rs1569110510
|
|
NM_007194.4(CHEK2):c.1379del (p.Leu460fs)
|
rs2145786618
|
|
NM_007194.4(CHEK2):c.1380G>A (p.Leu460=)
|
rs2145786561
|
|
NM_007194.4(CHEK2):c.1380G>C (p.Leu460=)
|
|
|
NM_007194.4(CHEK2):c.1380G>T (p.Leu460=)
|
|
|
NM_007194.4(CHEK2):c.1381G>A (p.Asp461Asn)
|
|
|
NM_007194.4(CHEK2):c.1381G>C (p.Asp461His)
|
rs2052473783
|
|
NM_007194.4(CHEK2):c.1382A>C (p.Asp461Ala)
|
rs1555913188
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
NM_007194.4(CHEK2):c.1383C>A (p.Asp461Glu)
|
|
|
NM_007194.4(CHEK2):c.1384C>G (p.Leu462Val)
|
rs751228409
|
|
NM_007194.4(CHEK2):c.1384C>T (p.Leu462Phe)
|
rs751228409
|
|
NM_007194.4(CHEK2):c.1385T>A (p.Leu462His)
|
rs2052473264
|
|
NM_007194.4(CHEK2):c.1385T>C (p.Leu462Pro)
|
rs2052473264
|
|
NM_007194.4(CHEK2):c.1385T>G (p.Leu462Arg)
|
|
|
NM_007194.4(CHEK2):c.1387G>A (p.Val463Ile)
|
|
|
NM_007194.4(CHEK2):c.1387G>C (p.Val463Leu)
|
|
|
NM_007194.4(CHEK2):c.1387G>T (p.Val463Phe)
|
rs1555913172
|
|
NM_007194.4(CHEK2):c.1388T>A (p.Val463Asp)
|
|
|
NM_007194.4(CHEK2):c.1388T>C (p.Val463Ala)
|
|
|
NM_007194.4(CHEK2):c.1389C>G (p.Val463=)
|
|
|
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile)
|
rs876660873
|
|
NM_007194.4(CHEK2):c.1390AAG[1] (p.Lys465del)
|
rs2145786206
|
|
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_007194.4(CHEK2):c.1394A>G (p.Lys465Arg)
|
|
|
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=)
|
rs1601716508
|
|
NM_007194.4(CHEK2):c.1396T>G (p.Leu466Val)
|
rs1569110400
|
|
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)
|
rs876658456
|
|
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
|
|
|
NM_007194.4(CHEK2):c.1399T>C (p.Leu467=)
|
|
|
NM_007194.4(CHEK2):c.13T>G (p.Ser5Ala)
|
rs1601854328
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
NM_007194.4(CHEK2):c.1401G>C (p.Leu467Phe)
|
rs876658908
|
|
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)
|
rs876660084
|
|
NM_007194.4(CHEK2):c.1404A>G (p.Val468=)
|
rs2145785904
|
|
NM_007194.4(CHEK2):c.1404_1407delinsT (p.Val469del)
|
rs1569110334
|
|
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met)
|
rs730881692
|
|
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu)
|
rs763344790
|
|
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala)
|
rs763344790
|
|
NM_007194.4(CHEK2):c.1406T>G (p.Val469Gly)
|
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.1411C>A (p.Pro471Thr)
|
rs2052470634
|
|
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser)
|
rs2052470634
|
|
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu)
|
rs1060502713
|
|
NM_007194.4(CHEK2):c.1414A>C (p.Lys472Gln)
|
rs2052470344
|
|
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu)
|
rs2052470344
|
|
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)
|
rs1064793511
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
NM_007194.4(CHEK2):c.1417G>A (p.Ala473Thr)
|
|
|
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del)
|
rs876659422
|
|
NM_007194.4(CHEK2):c.1418C>G (p.Ala473Gly)
|
rs1060502685
|
|
NM_007194.4(CHEK2):c.1418C>T (p.Ala473Val)
|
rs1060502685
|
|
NM_007194.4(CHEK2):c.141A>G (p.Pro47=)
|
|
|
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1420C>G (p.Arg474Gly)
|
rs540635787
|
|
NM_007194.4(CHEK2):c.1420del (p.Arg474fs)
|
rs2145785415
|
|
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)
|
rs121908706
|
|
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=)
|
rs1601716189
|
|
NM_007194.4(CHEK2):c.1426A>C (p.Thr476Pro)
|
rs2052468962
|
|
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)
|
rs142763740
|
|
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg)
|
rs142763740
|
|
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.1430C>G (p.Thr477Arg)
|
rs762488591
|
|
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile)
|
rs762488591
|
|
NM_007194.4(CHEK2):c.1430del (p.Thr477fs)
|
rs2052468526
|
|
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=)
|
rs2052468226
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
NM_007194.4(CHEK2):c.1433A>T (p.Glu478Val)
|
rs2052468103
|
|
NM_007194.4(CHEK2):c.1433AAG[1] (p.Glu479del)
|
rs1555913104
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
NM_007194.4(CHEK2):c.1436A>G (p.Glu479Gly)
|
|
|
NM_007194.4(CHEK2):c.1436A>T (p.Glu479Val)
|
rs1464731405
|
|
NM_007194.4(CHEK2):c.1437A>C (p.Glu479Asp)
|
|
|
NM_007194.4(CHEK2):c.1437A>G (p.Glu479=)
|
|
|
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
|
|
|
NM_007194.4(CHEK2):c.1439C>G (p.Ala480Gly)
|
rs786203303
|
|
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val)
|
rs786203303
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)
|
|
|
NM_007194.4(CHEK2):c.1442del (p.Ala480_Leu481insTer)
|
|
|
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs)
|
rs1555913094
|
|
NM_007194.4(CHEK2):c.1443_1458dup (p.Gln487fs)
|
|
|
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
|
|
|
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys)
|
rs1555913090
|
|
NM_007194.4(CHEK2):c.1446A>G (p.Arg482=)
|
rs2145784530
|
|
NM_007194.4(CHEK2):c.1447C>A (p.His483Asn)
|
|
|
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr)
|
rs786203490
|
|
NM_007194.4(CHEK2):c.1448A>T (p.His483Leu)
|
|
|
NM_007194.4(CHEK2):c.1448dup (p.His483fs)
|
|
|
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln)
|
rs1555913081
|
|
NM_007194.4(CHEK2):c.1449C>T (p.His483=)
|
rs1555913081
|
|
NM_007194.4(CHEK2):c.1450C>G (p.Pro484Ala)
|
|
|
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser)
|
rs548850521
|
|
NM_007194.4(CHEK2):c.1451C>G (p.Pro484Arg)
|
rs564605612
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
NM_007194.4(CHEK2):c.1452G>C (p.Pro484=)
|
|
|
NM_007194.4(CHEK2):c.1452del (p.Trp485fs)
|
rs2145784297
|
|
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg)
|
rs786202244
|
|
NM_007194.4(CHEK2):c.1453T>C (p.Trp485Arg)
|
rs786202244
|
|
NM_007194.4(CHEK2):c.1453T>G (p.Trp485Gly)
|
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
NM_007194.4(CHEK2):c.1454G>C (p.Trp485Ser)
|
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1455del (p.Trp485fs)
|
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
NM_007194.4(CHEK2):c.1457T>C (p.Leu486Pro)
|
rs1569109928
|
|
NM_007194.4(CHEK2):c.1457T>G (p.Leu486Arg)
|
|
|
NM_007194.4(CHEK2):c.1458T>G (p.Leu486=)
|
rs1601715824
|
|
NM_007194.4(CHEK2):c.145T>C (p.Ser49Pro)
|
rs756991701
|
|
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg)
|
rs1601715793
|
|
NM_007194.4(CHEK2):c.1461+10G>A
|
rs1060504696
|
|
NM_007194.4(CHEK2):c.1461+11G>C
|
|
|
NM_007194.4(CHEK2):c.1461+11G>T
|
|
|
NM_007194.4(CHEK2):c.1461+12A>G
|
rs886057328
|
|
NM_007194.4(CHEK2):c.1461+17G>A
|
rs1458355639
|
|
NM_007194.4(CHEK2):c.1461+19dup
|
rs2145783568
|
|
NM_007194.4(CHEK2):c.1461+1G>A
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>C
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1G>T
|
rs886039629
|
|
NM_007194.4(CHEK2):c.1461+1del
|
|
|
NM_007194.4(CHEK2):c.1461+2301G>T
|
|
|
NM_007194.4(CHEK2):c.1461+2T>C
|
rs779844113
|
|
NM_007194.4(CHEK2):c.1461+2del
|
rs1601715755
|
|
NM_007194.4(CHEK2):c.1461+3G>C
|
rs1555913067
|
|
NM_007194.4(CHEK2):c.1461+4G>C
|
rs1057522400
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+5G>C
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+5G>T
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1461+6T>A
|
rs1064795915
|
|
NM_007194.4(CHEK2):c.1461+6T>C
|
rs1064795915
|
|
NM_007194.4(CHEK2):c.1461+7G>A
|
rs2145783810
|
|
NM_007194.4(CHEK2):c.1461+7G>T
|
rs2145783810
|
|
NM_007194.4(CHEK2):c.1461+8T>C
|
rs1057521960
|
|
NM_007194.4(CHEK2):c.1461+9G>T
|
rs2145783750
|
|
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=)
|
rs1060502701
|
|
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His)
|
rs1060502701
|
|
NM_007194.4(CHEK2):c.1462-12A>T
|
|
|
NM_007194.4(CHEK2):c.1462-13A>C
|
|
|
NM_007194.4(CHEK2):c.1462-18T>C
|
rs1555912108
|
|
NM_007194.4(CHEK2):c.1462-19G>A
|
|
|
NM_007194.4(CHEK2):c.1462-1_1542+2del
|
rs2145747944
|
|
NM_007194.4(CHEK2):c.1462-2A>G
|
rs587782575
|
|
NM_007194.4(CHEK2):c.1462-2del
|
|
|
NM_007194.4(CHEK2):c.1462-3C>G
|
rs876658673
|
|
NM_007194.4(CHEK2):c.1462-3C>T
|
rs876658673
|
|
NM_007194.4(CHEK2):c.1462-5C>G
|
rs1601702602
|
|
NM_007194.4(CHEK2):c.1462-5C>T
|
rs1601702602
|
|
NM_007194.4(CHEK2):c.1462-8C>A
|
rs2145751049
|
|
NM_007194.4(CHEK2):c.1462-9C>T
|
rs2145751069
|
|
NM_007194.4(CHEK2):c.1462G>C (p.Asp488His)
|
rs886041173
|
|
NM_007194.4(CHEK2):c.1462G>T (p.Asp488Tyr)
|
rs886041173
|
|
NM_007194.4(CHEK2):c.1463A>T (p.Asp488Val)
|
|
|
NM_007194.4(CHEK2):c.1464T>G (p.Asp488Glu)
|
|
|
NM_007194.4(CHEK2):c.1465G>A (p.Glu489Lys)
|
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe)
|
rs730881694
|
|
NM_007194.4(CHEK2):c.1471A>C (p.Met491Leu)
|
rs1555912088
|
|
NM_007194.4(CHEK2):c.1471A>G (p.Met491Val)
|
rs1555912088
|
|
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu)
|
rs1555912088
|
|
NM_007194.4(CHEK2):c.1472T>A (p.Met491Lys)
|
rs1601702472
|
|
NM_007194.4(CHEK2):c.1472T>G (p.Met491Arg)
|
rs1601702472
|
|
NM_007194.4(CHEK2):c.1473del (p.Met491fs)
|
|
|
NM_007194.4(CHEK2):c.1475A>C (p.Lys492Thr)
|
|
|
NM_007194.4(CHEK2):c.1475A>G (p.Lys492Arg)
|
rs2145750566
|
|
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)
|
rs2145750415
|
|
NM_007194.4(CHEK2):c.1477A>G (p.Arg493Gly)
|
rs1601702436
|
|
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr)
|
rs1569104499
|
|
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser)
|
rs1601702414
|
|
NM_007194.4(CHEK2):c.1481A>G (p.Lys494Arg)
|
rs1601702380
|
|
NM_007194.4(CHEK2):c.1481A>T (p.Lys494Met)
|
rs1601702380
|
|
NM_007194.4(CHEK2):c.1481del (p.Lys494fs)
|
rs2052247122
|
|
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)
|
rs767043399
|
|
NM_007194.4(CHEK2):c.1485T>C (p.Phe495=)
|
rs2145750188
|
|
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
|
|
|
NM_007194.4(CHEK2):c.1486C>A (p.Gln496Lys)
|
rs756250205
|
|
NM_007194.4(CHEK2):c.1486C>G (p.Gln496Glu)
|
rs756250205
|
|
NM_007194.4(CHEK2):c.1487A>C (p.Gln496Pro)
|
rs2145750109
|
|
NM_007194.4(CHEK2):c.1488del (p.Asp497fs)
|
|
|
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg)
|
rs1569171013
|
|
NM_007194.4(CHEK2):c.1490A>G (p.Asp497Gly)
|
|
|
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val)
|
rs549945536
|
|
NM_007194.4(CHEK2):c.1491TCT[1] (p.Leu499del)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492C>G (p.Leu498Val)
|
|
|
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe)
|
rs2052245756
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1493T>C (p.Leu498Pro)
|
rs2052245637
|
|
NM_007194.4(CHEK2):c.1495C>A (p.Leu499Met)
|
rs2145749845
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
|
|
NM_007194.4(CHEK2):c.1496T>C (p.Leu499Pro)
|
rs761750423
|
|
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=)
|
rs587780890
|
|
NM_007194.4(CHEK2):c.1498T>A (p.Ser500Thr)
|
|
|
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
|
|
|
NM_007194.4(CHEK2):c.1499C>G (p.Ser500Cys)
|
|
|
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs)
|
rs2145748708
|
|
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
|
|
|
NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)
|
|
|
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.1500_1501delinsAT (p.Glu501Ter)
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502A>G (p.Glu501Gly)
|
|
|
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.1504G>A (p.Glu502Lys)
|
rs1601702068
|
|
NM_007194.4(CHEK2):c.1504del (p.Glu502fs)
|
rs1601702086
|
|
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly)
|
rs1060502682
|
|
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=)
|
rs1555912021
|
|
NM_007194.4(CHEK2):c.1507A>G (p.Asn503Asp)
|
rs2052243352
|
|
NM_007194.4(CHEK2):c.1508A>C (p.Asn503Thr)
|
rs1555912017
|
|
NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser)
|
rs1555912017
|
|
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.1513T>G (p.Ser505Ala)
|
rs587781960
|
|
NM_007194.4(CHEK2):c.1516A>C (p.Thr506Pro)
|
rs1555912010
|
|
NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala)
|
rs1555912010
|
|
NM_007194.4(CHEK2):c.1517C>G (p.Thr506Arg)
|
rs1398732281
|
|
NM_007194.4(CHEK2):c.1517C>T (p.Thr506Ile)
|
rs1398732281
|
|
NM_007194.4(CHEK2):c.151C>A (p.Gln51Lys)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.151C>G (p.Gln51Glu)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs)
|
rs2145748685
|
|
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=)
|
rs1057522770
|
|
NM_007194.4(CHEK2):c.1521_1524dup (p.Pro509fs)
|
|
|
NM_007194.4(CHEK2):c.1522C>T (p.Leu508=)
|
rs876660898
|
|
NM_007194.4(CHEK2):c.1522del (p.Leu508fs)
|
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro)
|
rs1338238773
|
|
NM_007194.4(CHEK2):c.1527C>G (p.Pro509=)
|
|
|
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.1528dup (p.Gln510fs)
|
rs2052240942
|
|
NM_007194.4(CHEK2):c.1529A>G (p.Gln510Arg)
|
rs1601701772
|
|
NM_007194.4(CHEK2):c.152A>C (p.Gln51Pro)
|
rs2054325722
|
|
NM_007194.4(CHEK2):c.152A>G (p.Gln51Arg)
|
rs2054325722
|
|
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs)
|
rs1555932481
|
|
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
|
|
|
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)
|
rs1569104011
|
|
NM_007194.4(CHEK2):c.1531G>A (p.Val511Ile)
|
rs1601701749
|
|
NM_007194.4(CHEK2):c.1531G>T (p.Val511Phe)
|
|
|
NM_007194.4(CHEK2):c.1533T>G (p.Val511=)
|
rs2145748251
|
|
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer)
|
rs2145748275
|
|
NM_007194.4(CHEK2):c.1534C>T (p.Leu512=)
|
|
|
NM_007194.4(CHEK2):c.1537G>A (p.Ala513Thr)
|
rs2052240121
|
|
NM_007194.4(CHEK2):c.1537G>T (p.Ala513Ser)
|
|
|
NM_007194.4(CHEK2):c.1538C>T (p.Ala513Val)
|
|
|
NM_007194.4(CHEK2):c.1539C>G (p.Ala513=)
|
rs2145748075
|
|
NM_007194.4(CHEK2):c.1539C>T (p.Ala513=)
|
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1540del (p.Gln514fs)
|
rs2145748046
|
|
NM_007194.4(CHEK2):c.1542+10T>C
|
rs1601701672
|
|
NM_007194.4(CHEK2):c.1542+11T>C
|
rs17881716
|
|
NM_007194.4(CHEK2):c.1542+11T>G
|
|
|
NM_007194.4(CHEK2):c.1542+16A>G
|
rs749728970
|
|
NM_007194.4(CHEK2):c.1542+18G>T
|
rs1226931987
|
|
NM_007194.4(CHEK2):c.1542+1G>A
|
|
|
NM_007194.4(CHEK2):c.1542+20T>G
|
|
|
NM_007194.4(CHEK2):c.1542+3A>G
|
rs1060502722
|
|
NM_007194.4(CHEK2):c.1542+6C>G
|
rs1414780425
|
|
NM_007194.4(CHEK2):c.1542+7G>A
|
rs4035547
|
|
NM_007194.4(CHEK2):c.1542+7G>T
|
|
|
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.1543-10T>C
|
rs1555911654
|
|
NM_007194.4(CHEK2):c.1543-10T>G
|
rs1555911654
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
NM_007194.4(CHEK2):c.1543-12C>G
|
rs1555911657
|
|
NM_007194.4(CHEK2):c.1543-12C>T
|
|
|
NM_007194.4(CHEK2):c.1543-13C>T
|
|
|
NM_007194.4(CHEK2):c.1543-14dup
|
rs2145739856
|
|
NM_007194.4(CHEK2):c.1543-1G>A
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-1G>C
|
rs2052190289
|
|
NM_007194.4(CHEK2):c.1543-1G>T
|
|
|
NM_007194.4(CHEK2):c.1543-2A>C
|
rs1160973224
|
|
NM_007194.4(CHEK2):c.1543-2A>G
|
|
|
NM_007194.4(CHEK2):c.1543-3C>G
|
rs759366945
|
|
NM_007194.4(CHEK2):c.1543-44_1581del
|
|
|
NM_007194.4(CHEK2):c.1543-4T>C
|
rs2145739718
|
|
NM_007194.4(CHEK2):c.1543-7T>C
|
|
|
NM_007194.4(CHEK2):c.1543-9_1546del
|
rs1555911638
|
|
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr)
|
rs1399879170
|
|
NM_007194.4(CHEK2):c.1544C>T (p.Pro515Leu)
|
rs2052189910
|
|
NM_007194.4(CHEK2):c.1544del (p.Pro515fs)
|
rs1555911640
|
|
NM_007194.4(CHEK2):c.1545T>A (p.Pro515=)
|
|
|
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=)
|
rs1601698296
|
|
NM_007194.4(CHEK2):c.1546T>C (p.Ser516Pro)
|
|
|
NM_007194.4(CHEK2):c.1546del (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs)
|
rs1555911636
|
|
NM_007194.4(CHEK2):c.1547C>T (p.Ser516Phe)
|
rs1601698243
|
|
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del)
|
rs1555911626
|
|
NM_007194.4(CHEK2):c.1547del (p.Ser516fs)
|
rs1555911635
|
|
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=)
|
rs2145739425
|
|
NM_007194.4(CHEK2):c.1548_1565del (p.Thr517_Pro522del)
|
rs2052186431
|
|
NM_007194.4(CHEK2):c.1549A>G (p.Thr517Ala)
|
rs1555911631
|
|
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser)
|
rs1555911631
|
|
NM_007194.4(CHEK2):c.154T>A (p.Ser52Thr)
|
rs2054325597
|
|
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
|
|
|
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile)
|
rs1555911629
|
|
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=)
|
rs2145739341
|
|
NM_007194.4(CHEK2):c.1551T>C (p.Thr517=)
|
|
|
NM_007194.4(CHEK2):c.1552A>C (p.Ser518Arg)
|
rs753560465
|
|
NM_007194.4(CHEK2):c.1553G>A (p.Ser518Asn)
|
|
|
NM_007194.4(CHEK2):c.1555C>G (p.Arg519Gly)
|
|
|
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.1557A>C (p.Arg519=)
|
rs1555911615
|
|
NM_007194.4(CHEK2):c.1558A>C (p.Lys520Gln)
|
rs1555911613
|
|
NM_007194.4(CHEK2):c.1558A>G (p.Lys520Glu)
|
|
|
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs)
|
rs876658646
|
|
NM_007194.4(CHEK2):c.1559del (p.Lys520fs)
|
rs2145739112
|
|
NM_007194.4(CHEK2):c.1559dup (p.Arg521fs)
|
|
|
NM_007194.4(CHEK2):c.155C>A (p.Ser52Tyr)
|
rs778214603
|
|
NM_007194.4(CHEK2):c.1560G>A (p.Lys520=)
|
rs1601698058
|
|
NM_007194.4(CHEK2):c.1560G>C (p.Lys520Asn)
|
rs1601698058
|
|
NM_007194.4(CHEK2):c.1561C>G (p.Arg521Gly)
|
rs533475838
|
|
NM_007194.4(CHEK2):c.1561del (p.Arg521fs)
|
rs2052187374
|
|
NM_007194.4(CHEK2):c.1562G>T (p.Arg521Leu)
|
rs373959274
|
|
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)
|
rs786202339
|
|
NM_007194.4(CHEK2):c.1563dup (p.Pro522fs)
|
|
|
NM_007194.4(CHEK2):c.1564C>G (p.Pro522Ala)
|
|
|
NM_007194.4(CHEK2):c.1564C>T (p.Pro522Ser)
|
|
|
NM_007194.4(CHEK2):c.1565C>A (p.Pro522His)
|
|
|
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser)
|
rs149501505
|
|
NM_007194.4(CHEK2):c.1567C>G (p.Arg523Gly)
|
rs149501505
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1567dup (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu)
|
rs948928965
|
|
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=)
|
rs748954413
|
|
NM_007194.4(CHEK2):c.1569_1582dup (p.Glu528fs)
|
rs2145738171
|
|
NM_007194.4(CHEK2):c.156C>T (p.Ser52=)
|
rs1555932466
|
|
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys)
|
rs876658872
|
|
NM_007194.4(CHEK2):c.1572del (p.Glu526fs)
|
rs2052185743
|
|
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg)
|
rs780512032
|
|
NM_007194.4(CHEK2):c.1574G>A (p.Gly525Glu)
|
rs1212728170
|
|
NM_007194.4(CHEK2):c.1575G>A (p.Gly525=)
|
rs770307891
|
|
NM_007194.4(CHEK2):c.1575G>C (p.Gly525=)
|
rs770307891
|
|
NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys)
|
rs1555911587
|
|
NM_007194.4(CHEK2):c.1576G>T (p.Glu526Ter)
|
rs1555911587
|
|
NM_007194.4(CHEK2):c.1576_1577delinsAG (p.Glu526Arg)
|
|
|
NM_007194.4(CHEK2):c.1576_1586del (p.Glu526fs)
|
|
|
NM_007194.4(CHEK2):c.1576del (p.Glu526fs)
|
|
|
NM_007194.4(CHEK2):c.1577A>C (p.Glu526Ala)
|
|
|
NM_007194.4(CHEK2):c.1578_1581del (p.Ala527fs)
|
|
|
NM_007194.4(CHEK2):c.1579G>T (p.Ala527Ser)
|
rs1555911583
|
|
NM_007194.4(CHEK2):c.157T>G (p.Ser53Ala)
|
rs371657037
|
|
NM_007194.4(CHEK2):c.1580C>T (p.Ala527Val)
|
rs1601697744
|
|
NM_007194.4(CHEK2):c.1581C>A (p.Ala527=)
|
rs781593101
|
|
NM_007194.4(CHEK2):c.1581del (p.Glu528fs)
|
rs2145738231
|
|
NM_007194.4(CHEK2):c.1582G>C (p.Glu528Gln)
|
rs138040612
|
|
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter)
|
rs138040612
|
|
NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs)
|
rs2145737506
|
|
NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)
|
|
|
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=)
|
rs1601697668
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
|
NM_007194.4(CHEK2):c.158C>T (p.Ser53Phe)
|
rs753204096
|
|
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.1591G>T (p.Glu531Ter)
|
rs587781710
|
|
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly)
|
rs1569102183
|
|
NM_007194.4(CHEK2):c.1596C>A (p.Thr532=)
|
rs2145737656
|
|
NM_007194.4(CHEK2):c.1596del (p.Thr533fs)
|
rs587781519
|
|
NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg)
|
rs1569102119
|
|
NM_007194.4(CHEK2):c.1598C>T (p.Thr533Ile)
|
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln)
|
rs1555911558
|
|
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu)
|
rs1555911558
|
|
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=)
|
rs1569102099
|
|
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)
|
rs576248104
|
|
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)
|
rs1601697447
|
|
NM_007194.4(CHEK2):c.1607del (p.Pro536fs)
|
rs1555911551
|
|
NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp)
|
rs1064795821
|
|
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)
|
rs1064795821
|
|
NM_007194.4(CHEK2):c.1610del (p.Ala537fs)
|
|
|
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=)
|
rs1057521299
|
|
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met)
|
rs1064794950
|
|
NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu)
|
rs1064794950
|
|
NM_007194.4(CHEK2):c.1614G>A (p.Val538=)
|
rs750337711
|
|
NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr)
|
rs1569101993
|
|
NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe)
|
rs1569101993
|
|
NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)
|
rs1569101939
|
|
NM_007194.4(CHEK2):c.1617T>C (p.Cys539=)
|
|
|
NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr)
|
rs767414081
|
|
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser)
|
rs767414081
|
|
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val)
|
rs1569101970
|
|
NM_007194.4(CHEK2):c.161_164del (p.His54fs)
|
rs1569170839
|
|
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.1624G>A (p.Val542Met)
|
|
|
NM_007194.4(CHEK2):c.1625T>C (p.Val542Ala)
|
rs2145736771
|
|
NM_007194.4(CHEK2):c.1626G>A (p.Val542=)
|
rs2145736707
|
|
NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val)
|
rs2052179967
|
|
NM_007194.4(CHEK2):c.1628T>A (p.Leu543Ter)
|
|
|
NM_007194.4(CHEK2):c.1628T>C (p.Leu543Ser)
|
rs2145736622
|
|
NM_007194.4(CHEK2):c.1629G>A (p.Leu543=)
|
|
|
NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg)
|
rs2052179845
|
|
NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly)
|
rs2052179845
|
|
NM_007194.4(CHEK2):c.1632A>T (p.Ter544Cys)
|
|
|
NM_007194.4(CHEK2):c.163T>G (p.Ser55Ala)
|
rs1555932427
|
|
NM_007194.4(CHEK2):c.164C>G (p.Ser55Cys)
|
rs765799649
|
|
NM_007194.4(CHEK2):c.166A>G (p.Ser56Gly)
|
rs1555932413
|
|
NM_007194.4(CHEK2):c.167G>C (p.Ser56Thr)
|
rs1255827598
|
|
NM_007194.4(CHEK2):c.169T>G (p.Ser57Ala)
|
|
|
NM_007194.4(CHEK2):c.16G>C (p.Asp6His)
|
rs1555932944
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.170C>A (p.Ser57Tyr)
|
rs730881695
|
|
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys)
|
rs730881695
|
|
NM_007194.4(CHEK2):c.171T>C (p.Ser57=)
|
rs1555932401
|
|
NM_007194.4(CHEK2):c.174G>A (p.Gly58=)
|
rs2146148861
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
NM_007194.4(CHEK2):c.175A>G (p.Thr59Ala)
|
|
|
NM_007194.4(CHEK2):c.176C>T (p.Thr59Ile)
|
rs149991239
|
|
NM_007194.4(CHEK2):c.177A>T (p.Thr59=)
|
rs750143255
|
|
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
NM_007194.4(CHEK2):c.17A>C (p.Asp6Ala)
|
|
|
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
|
|
|
NM_007194.4(CHEK2):c.180G>A (p.Leu60=)
|
rs2146148626
|
|
NM_007194.4(CHEK2):c.180G>C (p.Leu60=)
|
|
|
NM_007194.4(CHEK2):c.181A>C (p.Ser61Arg)
|
rs766499735
|
|
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly)
|
rs766499735
|
|
NM_007194.4(CHEK2):c.181del (p.Ser61fs)
|
rs1601852451
|
|
NM_007194.4(CHEK2):c.182G>A (p.Ser61Asn)
|
rs1569170658
|
|
NM_007194.4(CHEK2):c.182G>T (p.Ser61Ile)
|
rs1569170658
|
|
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg)
|
rs2054322201
|
|
NM_007194.4(CHEK2):c.183C>T (p.Ser61=)
|
|
|
NM_007194.4(CHEK2):c.183del (p.Ser62fs)
|
rs2054322279
|
|
NM_007194.4(CHEK2):c.184T>C (p.Ser62Pro)
|
rs2146148379
|
|
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.186del (p.Ser62_Leu63insTer)
|
rs2054322016
|
|
NM_007194.4(CHEK2):c.187T>G (p.Leu63Val)
|
|
|
NM_007194.4(CHEK2):c.188T>C (p.Leu63Ser)
|
rs878854916
|
|
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer)
|
rs2146148231
|
|
NM_007194.4(CHEK2):c.18T>C (p.Asp6=)
|
rs1555932937
|
|
NM_007194.4(CHEK2):c.191A>G (p.Glu64Gly)
|
rs1601852334
|
|
NM_007194.4(CHEK2):c.191A>T (p.Glu64Val)
|
|
|
NM_007194.4(CHEK2):c.193A>G (p.Thr65Ala)
|
rs1308200351
|
|
NM_007194.4(CHEK2):c.193A>T (p.Thr65Ser)
|
rs1308200351
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
NM_007194.4(CHEK2):c.195A>C (p.Thr65=)
|
rs1411341011
|
|
NM_007194.4(CHEK2):c.196G>A (p.Val66Met)
|
rs730881696
|
|
NM_007194.4(CHEK2):c.196G>T (p.Val66Leu)
|
|
|
NM_007194.4(CHEK2):c.197T>C (p.Val66Ala)
|
rs2054320721
|
|
NM_007194.4(CHEK2):c.199T>G (p.Ser67Ala)
|
rs1601852238
|
|
NM_007194.4(CHEK2):c.199del (p.Ser67fs)
|
rs2054320626
|
|
NM_007194.4(CHEK2):c.19G>A (p.Val7Ile)
|
rs1601854266
|
|
NM_007194.4(CHEK2):c.1A>C (p.Met1Leu)
|
rs863224748
|
|
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.1_3delinsTTT (p.Met1Phe)
|
|
|
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe)
|
rs886041171
|
|
NM_007194.4(CHEK2):c.201C>T (p.Ser67=)
|
rs111292981
|
|
NM_007194.4(CHEK2):c.202A>G (p.Thr68Ala)
|
|
|
NM_007194.4(CHEK2):c.203C>T (p.Thr68Ile)
|
|
|
NM_007194.4(CHEK2):c.204T>C (p.Thr68=)
|
rs1601852195
|
|
NM_007194.4(CHEK2):c.205C>A (p.Gln69Lys)
|
|
|
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.206A>T (p.Gln69Leu)
|
rs876661109
|
|
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
|
|
|
NM_007194.4(CHEK2):c.207G>C (p.Gln69His)
|
rs762760523
|
|
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter)
|
rs878854917
|
|
NM_007194.4(CHEK2):c.209A>G (p.Glu70Gly)
|
|
|
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs)
|
rs2054319272
|
|
NM_007194.4(CHEK2):c.211C>T (p.Leu71Phe)
|
rs2054319509
|
|
NM_007194.4(CHEK2):c.213C>G (p.Leu71=)
|
rs1057524667
|
|
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
|
|
|
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser)
|
rs769819013
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.217T>C (p.Ser73Pro)
|
rs2054319079
|
|
NM_007194.4(CHEK2):c.218C>G (p.Ser73Cys)
|
rs2054318997
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.222T>C (p.Ile74=)
|
rs876659629
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
NM_007194.4(CHEK2):c.225T>C (p.Pro75=)
|
|
|
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys)
|
rs1601852018
|
|
NM_007194.4(CHEK2):c.226G>C (p.Glu76Gln)
|
rs1601852018
|
|
NM_007194.4(CHEK2):c.229G>A (p.Asp77Asn)
|
rs2146146789
|
|
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
|
|
|
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.233A>G (p.Gln78Arg)
|
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs)
|
rs2054316045
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
NM_007194.4(CHEK2):c.238C>T (p.Pro80Ser)
|
rs745355600
|
|
NM_007194.4(CHEK2):c.239C>A (p.Pro80His)
|
rs876659006
|
|
NM_007194.4(CHEK2):c.240T>G (p.Pro80=)
|
rs878854918
|
|
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
|
|
|
NM_007194.4(CHEK2):c.243G>A (p.Glu81=)
|
rs1060504690
|
|
NM_007194.4(CHEK2):c.246C>A (p.Asp82Glu)
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
|
NM_007194.4(CHEK2):c.24G>A (p.Glu8=)
|
rs780920036
|
|
NM_007194.4(CHEK2):c.24G>C (p.Glu8Asp)
|
rs780920036
|
|
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
|
|
|
NM_007194.4(CHEK2):c.252del (p.Glu84fs)
|
rs1601851875
|
|
NM_007194.4(CHEK2):c.253C>A (p.Pro85Thr)
|
rs1366081066
|
|
NM_007194.4(CHEK2):c.254C>A (p.Pro85His)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)
|
rs17883862
|
|
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
|
|
|
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys)
|
rs551930027
|
|
NM_007194.4(CHEK2):c.258G>A (p.Glu86=)
|
rs1201436179
|
|
NM_007194.4(CHEK2):c.258G>T (p.Glu86Asp)
|
rs1201436179
|
|
NM_007194.4(CHEK2):c.259G>A (p.Glu87Lys)
|
|
|
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr)
|
rs757530141
|
|
NM_007194.4(CHEK2):c.261G>A (p.Glu87=)
|
rs2146145556
|
|
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
|
|
|
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
|
|
|
NM_007194.4(CHEK2):c.265A>C (p.Thr89Pro)
|
|
|
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del)
|
rs1064793085
|
|
NM_007194.4(CHEK2):c.266C>A (p.Thr89Asn)
|
rs1601851716
|
|
NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile)
|
rs1601851716
|
|
NM_007194.4(CHEK2):c.267C>T (p.Thr89=)
|
rs1601851707
|
|
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs)
|
rs2054315696
|
|
NM_007194.4(CHEK2):c.268C>A (p.Pro90Thr)
|
rs777588170
|
|
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser)
|
rs777588170
|
|
NM_007194.4(CHEK2):c.269C>G (p.Pro90Arg)
|
|
|
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly)
|
rs1456931393
|
|
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val)
|
rs1456931393
|
|
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.271G>C (p.Ala91Pro)
|
rs2146145205
|
|
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
|
|
|
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp)
|
rs748559775
|
|
NM_007194.4(CHEK2):c.272C>T (p.Ala91Val)
|
rs748559775
|
|
NM_007194.4(CHEK2):c.274C>A (p.Pro92Thr)
|
rs1555932172
|
|
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser)
|
rs1555932172
|
|
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg)
|
rs779269031
|
|
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
|
|
|
NM_007194.4(CHEK2):c.276C>G (p.Pro92=)
|
rs1478388236
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277T>A (p.Trp93Arg)
|
rs730881697
|
|
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>A (p.Trp93Ter)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.279G>C (p.Trp93Cys)
|
|
|
NM_007194.4(CHEK2):c.279G>T (p.Trp93Cys)
|
rs587782070
|
|
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.280G>C (p.Ala94Pro)
|
rs753860983
|
|
NM_007194.4(CHEK2):c.281C>T (p.Ala94Val)
|
rs2054313946
|
|
NM_007194.4(CHEK2):c.282T>C (p.Ala94=)
|
rs786202279
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.283C>G (p.Arg95Gly)
|
rs587781269
|
|
NM_007194.4(CHEK2):c.283_288del (p.Arg95_Leu96del)
|
rs2146144505
|
|
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.284G>T (p.Arg95Leu)
|
rs750596499
|
|
NM_007194.4(CHEK2):c.286T>C (p.Leu96=)
|
rs1555932127
|
|
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
|
|
|
NM_007194.4(CHEK2):c.288A>T (p.Leu96Phe)
|
rs767758092
|
|
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
|
|
|
NM_007194.4(CHEK2):c.289T>C (p.Trp97Arg)
|
rs2054312729
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)
|
rs2054312626
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val)
|
rs1601851270
|
|
NM_007194.4(CHEK2):c.294C>G (p.Ala98=)
|
rs1555932111
|
|
NM_007194.4(CHEK2):c.294C>T (p.Ala98=)
|
rs1555932111
|
|
NM_007194.4(CHEK2):c.295del (p.Leu99fs)
|
rs1601851248
|
|
NM_007194.4(CHEK2):c.296T>A (p.Leu99His)
|
rs786201193
|
|
NM_007194.4(CHEK2):c.296T>G (p.Leu99Arg)
|
rs786201193
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.299A>G (p.Gln100Arg)
|
rs1601851194
|
|
NM_007194.4(CHEK2):c.299A>T (p.Gln100Leu)
|
|
|
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
|
|
|
NM_007194.4(CHEK2):c.29A>C (p.Gln10Pro)
|
|
|
NM_007194.4(CHEK2):c.29A>T (p.Gln10Leu)
|
rs2146156178
|
|
NM_007194.4(CHEK2):c.2T>A (p.Met1Lys)
|
|
|
NM_007194.4(CHEK2):c.300G>A (p.Gln100=)
|
rs1456691189
|
|
NM_007194.4(CHEK2):c.301G>C (p.Asp101His)
|
|
|
NM_007194.4(CHEK2):c.301G>T (p.Asp101Tyr)
|
rs786203283
|
|
NM_007194.4(CHEK2):c.302A>G (p.Asp101Gly)
|
rs1569169879
|
|
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu)
|
rs1569169871
|
|
NM_007194.4(CHEK2):c.304G>A (p.Gly102Arg)
|
rs876659833
|
|
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)
|
rs876659833
|
|
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs)
|
rs1555932071
|
|
NM_007194.4(CHEK2):c.305G>C (p.Gly102Ala)
|
rs1555932082
|
|
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val)
|
rs1555932082
|
|
NM_007194.4(CHEK2):c.305del (p.Gly102fs)
|
rs2054311111
|
|
NM_007194.4(CHEK2):c.306A>G (p.Gly102=)
|
rs1601851122
|
|
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)
|
rs876658140
|
|
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
|
|
|
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro)
|
rs1601851066
|
|
NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser)
|
rs1601851066
|
|
NM_007194.4(CHEK2):c.313A>C (p.Asn105His)
|
rs1010061908
|
|
NM_007194.4(CHEK2):c.315T>G (p.Asn105Lys)
|
rs1555932027
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.316C>G (p.Leu106Val)
|
rs1060502691
|
|
NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro)
|
rs1601850987
|
|
NM_007194.4(CHEK2):c.317T>G (p.Leu106Arg)
|
rs1601850987
|
|
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.319+13G>A
|
rs2146142990
|
|
NM_007194.4(CHEK2):c.319+16G>T
|
|
|
NM_007194.4(CHEK2):c.319+17T>C
|
rs770423802
|
|
NM_007194.4(CHEK2):c.319+18A>G
|
|
|
NM_007194.4(CHEK2):c.319+1G>C
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1G>T
|
rs765080766
|
|
NM_007194.4(CHEK2):c.319+1del
|
|
|
NM_007194.4(CHEK2):c.319+20A>G
|
|
|
NM_007194.4(CHEK2):c.319+2T>C
|
|
|
NM_007194.4(CHEK2):c.319+2T>G
|
rs587782401
|
|
NM_007194.4(CHEK2):c.319+3851G>T
|
rs1601841500
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
NM_007194.4(CHEK2):c.319+3980C>T
|
rs1045958480
|
|
NM_007194.4(CHEK2):c.319+39dup
|
rs3841692
|
|
NM_007194.4(CHEK2):c.319+3A>T
|
rs1569169765
|
|
NM_007194.4(CHEK2):c.319+4A>G
|
|
|
NM_007194.4(CHEK2):c.319+5G>T
|
rs730881698
|
|
NM_007194.4(CHEK2):c.319+7C>A
|
rs1057522753
|
|
NM_007194.4(CHEK2):c.319+7C>G
|
rs1057522753
|
|
NM_007194.4(CHEK2):c.319+7C>T
|
rs1057522753
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
NM_007194.4(CHEK2):c.319+8C>G
|
rs776443322
|
|
NM_007194.4(CHEK2):c.319+9C>T
|
rs772600733
|
|
NM_007194.4(CHEK2):c.319+9del
|
|
|
NM_007194.4(CHEK2):c.319G>C (p.Glu107Gln)
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
NM_007194.4(CHEK2):c.31C>G (p.Gln11Glu)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
|
rs1349961118
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.320-11_320-10dup
|
|
|
NM_007194.4(CHEK2):c.320-14C>T
|
rs2146072517
|
|
NM_007194.4(CHEK2):c.320-16T>A
|
|
|
NM_007194.4(CHEK2):c.320-17A>G
|
|
|
NM_007194.4(CHEK2):c.320-1G>A
|
|
|
NM_007194.4(CHEK2):c.320-1G>C
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.320-20T>C
|
rs1048802612
|
|
NM_007194.4(CHEK2):c.320-2A>G
|
rs1336652138
|
|
NM_007194.4(CHEK2):c.320-2A>T
|
|
|
NM_007194.4(CHEK2):c.320-2del
|
|
|
NM_007194.4(CHEK2):c.320-3970_454del
|
|
|
NM_007194.4(CHEK2):c.320-3970_455del
|
|
|
NM_007194.4(CHEK2):c.320-3C>A
|
rs863224749
|
|
NM_007194.4(CHEK2):c.320-3C>G
|
rs863224749
|
|
NM_007194.4(CHEK2):c.320-3C>T
|
|
|
NM_007194.4(CHEK2):c.320-3_320del
|
|
|
NM_007194.4(CHEK2):c.320-4A>G
|
rs2146072244
|
|
NM_007194.4(CHEK2):c.320-5T>C
|
rs121908700
|
|
NM_007194.4(CHEK2):c.320-7A>C
|
rs1555927424
|
|
NM_007194.4(CHEK2):c.320-7A>G
|
rs1555927424
|
|
NM_007194.4(CHEK2):c.320-9A>C
|
|
|
NM_007194.4(CHEK2):c.320-?_*(1_?)dup
|
|
|
NM_007194.4(CHEK2):c.320A>G (p.Glu107Gly)
|
rs1569159156
|
|
NM_007194.4(CHEK2):c.320A>T (p.Glu107Val)
|
|
|
NM_007194.4(CHEK2):c.321A>T (p.Glu107Asp)
|
|
|
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer)
|
rs2053967484
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr)
|
rs1555927408
|
|
NM_007194.4(CHEK2):c.323G>C (p.Cys108Ser)
|
|
|
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
|
|
|
NM_007194.4(CHEK2):c.325G>A (p.Val109Met)
|
rs1569159114
|
|
NM_007194.4(CHEK2):c.325G>C (p.Val109Leu)
|
rs1569159114
|
|
NM_007194.4(CHEK2):c.326_327del (p.Val109fs)
|
rs1555927398
|
|
NM_007194.4(CHEK2):c.328A>C (p.Asn110His)
|
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
NM_007194.4(CHEK2):c.329A>C (p.Asn110Thr)
|
rs1060502700
|
|
NM_007194.4(CHEK2):c.329A>G (p.Asn110Ser)
|
rs1060502700
|
|
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro)
|
rs369256181
|
|
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs)
|
rs2146155758
|
|
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr)
|
rs1569159072
|
|
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly)
|
rs2053966685
|
|
NM_007194.4(CHEK2):c.334_336del (p.Asn112del)
|
rs1569159061
|
|
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
|
|
|
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
|
|
|
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys)
|
rs1060502689
|
|
NM_007194.4(CHEK2):c.336C>T (p.Asn112=)
|
|
|
NM_007194.4(CHEK2):c.337T>C (p.Tyr113His)
|
rs1601826109
|
|
NM_007194.4(CHEK2):c.338A>C (p.Tyr113Ser)
|
rs770343235
|
|
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys)
|
rs770343235
|
|
NM_007194.4(CHEK2):c.338A>T (p.Tyr113Phe)
|
|
|
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs)
|
rs2053964098
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
|
|
|
NM_007194.4(CHEK2):c.33G>C (p.Gln11His)
|
|
|
NM_007194.4(CHEK2):c.33del (p.Gln11fs)
|
rs2146155911
|
|
NM_007194.4(CHEK2):c.340T>C (p.Trp114Arg)
|
rs1555927378
|
|
NM_007194.4(CHEK2):c.340T>G (p.Trp114Gly)
|
rs1555927378
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
NM_007194.4(CHEK2):c.341G>T (p.Trp114Leu)
|
rs1555927374
|
|
NM_007194.4(CHEK2):c.342G>C (p.Trp114Cys)
|
rs756949505
|
|
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys)
|
rs756949505
|
|
NM_007194.4(CHEK2):c.343T>A (p.Phe115Ile)
|
rs1060502695
|
|
NM_007194.4(CHEK2):c.343T>G (p.Phe115Val)
|
rs1060502695
|
|
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser)
|
rs1060502706
|
|
NM_007194.4(CHEK2):c.344T>G (p.Phe115Cys)
|
rs1060502706
|
|
NM_007194.4(CHEK2):c.347G>A (p.Gly116Glu)
|
rs745943179
|
|
NM_007194.4(CHEK2):c.349A>T (p.Arg117Trp)
|
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met)
|
rs587781982
|
|
NM_007194.4(CHEK2):c.351G>A (p.Arg117=)
|
rs2053964612
|
|
NM_007194.4(CHEK2):c.352G>A (p.Asp118Asn)
|
rs2053964532
|
|
NM_007194.4(CHEK2):c.352G>T (p.Asp118Tyr)
|
rs2053964532
|
|
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly)
|
rs1555927328
|
|
NM_007194.4(CHEK2):c.353A>T (p.Asp118Val)
|
|
|
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu)
|
rs757340619
|
|
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.355A>C (p.Lys119Gln)
|
rs2053964255
|
|
NM_007194.4(CHEK2):c.355A>G (p.Lys119Glu)
|
rs2053964255
|
|
NM_007194.4(CHEK2):c.358A>C (p.Ser120Arg)
|
rs1601825853
|
|
NM_007194.4(CHEK2):c.359_373del (p.Ser120_Phe125delinsIle)
|
|
|
NM_007194.4(CHEK2):c.359del (p.Ser120fs)
|
rs2146070648
|
|
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys)
|
rs1166395498
|
|
NM_007194.4(CHEK2):c.360C>T (p.Ser120=)
|
rs2053963800
|
|
NM_007194.4(CHEK2):c.360del (p.Cys121fs)
|
rs1601825829
|
|
NM_007194.4(CHEK2):c.361T>C (p.Cys121Arg)
|
rs1356801901
|
|
NM_007194.4(CHEK2):c.361del (p.Cys121fs)
|
rs2146070522
|
|
NM_007194.4(CHEK2):c.362G>A (p.Cys121Tyr)
|
rs777887044
|
|
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe)
|
rs777887044
|
|
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter)
|
rs1209379774
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
NM_007194.4(CHEK2):c.364G>C (p.Glu122Gln)
|
|
|
NM_007194.4(CHEK2):c.364_369del (p.Glu122_Tyr123del)
|
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
NM_007194.4(CHEK2):c.365A>G (p.Glu122Gly)
|
|
|
NM_007194.4(CHEK2):c.366A>G (p.Glu122=)
|
rs1331351515
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.367T>A (p.Tyr123Asn)
|
|
|
NM_007194.4(CHEK2):c.368_382del (p.Tyr123_Pro128delinsSer)
|
rs2146069470
|
|
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.370T>C (p.Cys124Arg)
|
rs2053962902
|
|
NM_007194.4(CHEK2):c.371G>C (p.Cys124Ser)
|
rs754768271
|
|
NM_007194.4(CHEK2):c.371_372delinsAG (p.Cys124Ter)
|
|
|
NM_007194.4(CHEK2):c.372C>G (p.Cys124Trp)
|
rs1555927291
|
|
NM_007194.4(CHEK2):c.372del (p.Phe125fs)
|
rs876661050
|
|
NM_007194.4(CHEK2):c.374T>C (p.Phe125Ser)
|
rs1064794677
|
|
NM_007194.4(CHEK2):c.375T>A (p.Phe125Leu)
|
|
|
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
|
|
|
NM_007194.4(CHEK2):c.376G>C (p.Asp126His)
|
|
|
NM_007194.4(CHEK2):c.376G>T (p.Asp126Tyr)
|
rs1192210146
|
|
NM_007194.4(CHEK2):c.377A>C (p.Asp126Ala)
|
|
|
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly)
|
rs864622541
|
|
NM_007194.4(CHEK2):c.37C>A (p.His13Asn)
|
rs1601854066
|
|
NM_007194.4(CHEK2):c.382C>A (p.Pro128Thr)
|
rs1555927281
|
|
NM_007194.4(CHEK2):c.382_383delinsTT (p.Pro128Leu)
|
rs2053961832
|
|
NM_007194.4(CHEK2):c.383del (p.Pro128fs)
|
rs1569158776
|
|
NM_007194.4(CHEK2):c.384A>T (p.Pro128=)
|
rs766409666
|
|
NM_007194.4(CHEK2):c.386T>C (p.Leu129Pro)
|
rs1555927266
|
|
NM_007194.4(CHEK2):c.387G>A (p.Leu129=)
|
rs560046142
|
|
NM_007194.4(CHEK2):c.388C>T (p.Leu130=)
|
rs1057522274
|
|
NM_007194.4(CHEK2):c.389T>A (p.Leu130Gln)
|
|
|
NM_007194.4(CHEK2):c.389T>C (p.Leu130Pro)
|
rs150677496
|
|
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.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg)
|
rs1569158689
|
|
NM_007194.4(CHEK2):c.393A>G (p.Lys131=)
|
rs2146068876
|
|
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
|
|
|
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
|
|
|
NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys)
|
rs750393263
|
|
NM_007194.4(CHEK2):c.395G>T (p.Arg132Ile)
|
rs750393263
|
|
NM_007194.4(CHEK2):c.396A>G (p.Arg132=)
|
rs1601825496
|
|
NM_007194.4(CHEK2):c.396A>T (p.Arg132Ser)
|
|
|
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala)
|
rs1060502703
|
|
NM_007194.4(CHEK2):c.397del (p.Thr133fs)
|
rs2053960596
|
|
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
|
|
|
NM_007194.4(CHEK2):c.398C>G (p.Thr133Arg)
|
|
|
NM_007194.4(CHEK2):c.398C>T (p.Thr133Ile)
|
rs1346472987
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.3G>T (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.400G>A (p.Asp134Asn)
|
|
|
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)
|
rs1569158640
|
|
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs)
|
rs2146068388
|
|
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)
|
rs1404473412
|
|
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val)
|
rs1404473412
|
|
NM_007194.4(CHEK2):c.402_407del (p.Lys135_Tyr136del)
|
rs2053959611
|
|
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
|
|
|
NM_007194.4(CHEK2):c.403A>G (p.Lys135Glu)
|
rs1601825425
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His)
|
rs1555927222
|
|
NM_007194.4(CHEK2):c.406T>G (p.Tyr136Asp)
|
rs1555927222
|
|
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys)
|
rs1569158606
|
|
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)
|
rs911826883
|
|
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)
|
rs911826883
|
|
NM_007194.4(CHEK2):c.409C>G (p.Arg137Gly)
|
rs730881701
|
|
NM_007194.4(CHEK2):c.409_410delinsTC (p.Arg137Ser)
|
rs876658143
|
|
NM_007194.4(CHEK2):c.409_417del (p.Arg137_Tyr139del)
|
rs786203325
|
|
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
|
|
|
NM_007194.4(CHEK2):c.40G>A (p.Gly14Ser)
|
rs1601854043
|
|
NM_007194.4(CHEK2):c.410G>C (p.Arg137Pro)
|
|
|
NM_007194.4(CHEK2):c.410G>T (p.Arg137Leu)
|
rs368570187
|
|
NM_007194.4(CHEK2):c.411A>C (p.Arg137=)
|
rs1060504695
|
|
NM_007194.4(CHEK2):c.412A>G (p.Thr138Ala)
|
rs1555927202
|
|
NM_007194.4(CHEK2):c.413C>A (p.Thr138Lys)
|
|
|
NM_007194.4(CHEK2):c.413C>T (p.Thr138Ile)
|
rs1555927196
|
|
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.415T>A (p.Tyr139Asn)
|
rs730881703
|
|
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His)
|
rs730881703
|
|
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp)
|
rs730881703
|
|
NM_007194.4(CHEK2):c.415_417del (p.Tyr139del)
|
|
|
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
|
|
|
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys)
|
rs587780182
|
|
NM_007194.4(CHEK2):c.416A>T (p.Tyr139Phe)
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.417_418dup (p.Ser140fs)
|
|
|
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
|
|
|
NM_007194.4(CHEK2):c.418A>G (p.Ser140Gly)
|
rs1601825241
|
|
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn)
|
rs768234137
|
|
NM_007194.4(CHEK2):c.419G>C (p.Ser140Thr)
|
rs768234137
|
|
NM_007194.4(CHEK2):c.41G>T (p.Gly14Val)
|
rs1601854035
|
|
NM_007194.4(CHEK2):c.41del (p.Gly14fs)
|
rs2146155398
|
|
NM_007194.4(CHEK2):c.420C>G (p.Ser140Arg)
|
rs1601825215
|
|
NM_007194.4(CHEK2):c.420C>T (p.Ser140=)
|
rs1601825215
|
|
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
|
|
|
NM_007194.4(CHEK2):c.421A>C (p.Lys141Gln)
|
rs2146067437
|
|
NM_007194.4(CHEK2):c.421A>G (p.Lys141Glu)
|
rs2146067437
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.424A>G (p.Lys142Glu)
|
rs2146067261
|
|
NM_007194.4(CHEK2):c.425A>G (p.Lys142Arg)
|
|
|
NM_007194.4(CHEK2):c.426A>G (p.Lys142=)
|
rs1601825176
|
|
NM_007194.4(CHEK2):c.426dup (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.428A>T (p.His143Leu)
|
rs587782300
|
|
NM_007194.4(CHEK2):c.429C>A (p.His143Gln)
|
rs1555927151
|
|
NM_007194.4(CHEK2):c.429C>G (p.His143Gln)
|
rs1555927151
|
|
NM_007194.4(CHEK2):c.429C>T (p.His143=)
|
rs1555927151
|
|
NM_007194.4(CHEK2):c.429_444+4del
|
|
|
NM_007194.4(CHEK2):c.430T>C (p.Phe144Leu)
|
rs1569158415
|
|
NM_007194.4(CHEK2):c.431T>A (p.Phe144Tyr)
|
rs2053956853
|
|
NM_007194.4(CHEK2):c.431T>G (p.Phe144Cys)
|
rs2053956853
|
|
NM_007194.4(CHEK2):c.432T>A (p.Phe144Leu)
|
rs876658374
|
|
NM_007194.4(CHEK2):c.432T>G (p.Phe144Leu)
|
rs876658374
|
|
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.433del (p.Arg145fs)
|
rs1555927137
|
|
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro)
|
rs587781667
|
|
NM_007194.4(CHEK2):c.435G>T (p.Arg145=)
|
rs746314542
|
|
NM_007194.4(CHEK2):c.436A>G (p.Ile146Val)
|
rs781678896
|
|
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe)
|
rs781678896
|
|
NM_007194.4(CHEK2):c.437T>G (p.Ile146Ser)
|
|
|
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
|
|
|
NM_007194.4(CHEK2):c.441C>G (p.Phe147Leu)
|
|
|
NM_007194.4(CHEK2):c.441C>T (p.Phe147=)
|
rs2146066450
|
|
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly)
|
rs876660482
|
|
NM_007194.4(CHEK2):c.443G>A (p.Arg148Lys)
|
rs142966756
|
|
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr)
|
rs142966756
|
|
NM_007194.4(CHEK2):c.444+10_444+13del
|
rs1555927105
|
|
NM_007194.4(CHEK2):c.444+12A>G
|
|
|
NM_007194.4(CHEK2):c.444+12_444+14del
|
rs2146065753
|
|
NM_007194.4(CHEK2):c.444+13T>C
|
|
|
NM_007194.4(CHEK2):c.444+14A>T
|
|
|
NM_007194.4(CHEK2):c.444+18A>G
|
rs753667121
|
|
NM_007194.4(CHEK2):c.444+19T>G
|
|
|
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+2T>G
|
|
|
NM_007194.4(CHEK2):c.444+3A>C
|
rs587781279
|
|
NM_007194.4(CHEK2):c.444+4_444+11del
|
|
|
NM_007194.4(CHEK2):c.444+4dup
|
rs2053955000
|
|
NM_007194.4(CHEK2):c.444+5G>C
|
rs189961251
|
|
NM_007194.4(CHEK2):c.444+7_444+8insTCTCCTAG
|
rs1555927106
|
|
NM_007194.4(CHEK2):c.444+8A>G
|
rs1298914765
|
|
NM_007194.4(CHEK2):c.444+9T>C
|
rs1437978013
|
|
NM_007194.4(CHEK2):c.444G>A (p.Arg148=)
|
rs1298109942
|
|
NM_007194.4(CHEK2):c.444_444+1del
|
rs1064793780
|
|
NM_007194.4(CHEK2):c.445-11C>A
|
|
|
NM_007194.4(CHEK2):c.445-11C>T
|
rs1024561307
|
|
NM_007194.4(CHEK2):c.445-11dup
|
|
|
NM_007194.4(CHEK2):c.445-15T>C
|
|
|
NM_007194.4(CHEK2):c.445-19A>G
|
rs2146062808
|
|
NM_007194.4(CHEK2):c.445-1G>A
|
rs587782830
|
|
NM_007194.4(CHEK2):c.445-20C>G
|
|
|
NM_007194.4(CHEK2):c.445-2A>G
|
rs1569158075
|
|
NM_007194.4(CHEK2):c.445-2A>T
|
|
|
NM_007194.4(CHEK2):c.445-4T>A
|
|
|
NM_007194.4(CHEK2):c.445-5T>C
|
rs1555927050
|
|
NM_007194.4(CHEK2):c.445-5T>G
|
rs1555927050
|
|
NM_007194.4(CHEK2):c.445-7A>G
|
rs1601824377
|
|
NM_007194.4(CHEK2):c.445-8T>C
|
rs2146062474
|
|
NM_007194.4(CHEK2):c.445-8_446del
|
rs2146062270
|
|
NM_007194.4(CHEK2):c.445-9C>G
|
rs1064794870
|
|
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys)
|
rs587782560
|
|
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln)
|
rs587782560
|
|
NM_007194.4(CHEK2):c.447A>G (p.Glu149=)
|
rs2146062204
|
|
NM_007194.4(CHEK2):c.448G>T (p.Val150Leu)
|
|
|
NM_007194.4(CHEK2):c.448_461del (p.Val150fs)
|
rs2146061709
|
|
NM_007194.4(CHEK2):c.448del (p.Val150fs)
|
rs1555927038
|
|
NM_007194.4(CHEK2):c.449T>C (p.Val150Ala)
|
rs587782385
|
|
NM_007194.4(CHEK2):c.449T>G (p.Val150Gly)
|
rs587782385
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.44G>A (p.Ser15Asn)
|
|
|
NM_007194.4(CHEK2):c.44G>T (p.Ser15Ile)
|
rs2054337550
|
|
NM_007194.4(CHEK2):c.451G>A (p.Gly151Ser)
|
rs587781377
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp)
|
rs1413319082
|
|
NM_007194.4(CHEK2):c.452_453delinsA (p.Gly151fs)
|
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
NM_007194.4(CHEK2):c.454C>A (p.Pro152Thr)
|
rs2146061931
|
|
NM_007194.4(CHEK2):c.454C>G (p.Pro152Ala)
|
|
|
NM_007194.4(CHEK2):c.454C>T (p.Pro152Ser)
|
|
|
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu)
|
rs1359910629
|
|
NM_007194.4(CHEK2):c.456T>C (p.Pro152=)
|
rs773234759
|
|
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
|
|
|
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.459A>G (p.Lys153=)
|
|
|
NM_007194.4(CHEK2):c.460A>C (p.Asn154His)
|
|
|
NM_007194.4(CHEK2):c.460A>T (p.Asn154Tyr)
|
rs1320819223
|
|
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer)
|
rs2146060468
|
|
NM_007194.4(CHEK2):c.461A>G (p.Asn154Ser)
|
rs2146061665
|
|
NM_007194.4(CHEK2):c.461A>T (p.Asn154Ile)
|
rs2146061665
|
|
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys)
|
rs564924749
|
|
NM_007194.4(CHEK2):c.462C>T (p.Asn154=)
|
|
|
NM_007194.4(CHEK2):c.463T>C (p.Ser155Pro)
|
rs1175278074
|
|
NM_007194.4(CHEK2):c.464C>G (p.Ser155Cys)
|
|
|
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
|
|
|
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs)
|
rs1601824130
|
|
NM_007194.4(CHEK2):c.466T>C (p.Tyr156His)
|
rs2053948136
|
|
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter)
|
rs2053947943
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.469A>G (p.Ile157Val)
|
rs748262921
|
|
NM_007194.4(CHEK2):c.469_592+808del
|
rs2053903140
|
|
NM_007194.4(CHEK2):c.469del (p.Ile157fs)
|
rs2146061284
|
|
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg)
|
rs1426424086
|
|
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs)
|
rs2146154211
|
|
NM_007194.4(CHEK2):c.46_72del (p.Ser16_Ser24del)
|
rs1555932835
|
|
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
|
|
|
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.471del (p.Ile157fs)
|
rs2146061160
|
|
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.473C>G (p.Ala158Gly)
|
rs864622351
|
|
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val)
|
rs864622351
|
|
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.473_475dup (p.Ala158_Tyr159insSer)
|
rs2146060962
|
|
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.474A>T (p.Ala158=)
|
rs745699485
|
|
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys)
|
rs1060502718
|
|
NM_007194.4(CHEK2):c.477C>T (p.Tyr159=)
|
rs1601823998
|
|
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
|
|
|
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu)
|
rs876659950
|
|
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.47G>A (p.Ser16Asn)
|
rs1060502705
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
NM_007194.4(CHEK2):c.481G>C (p.Glu161Gln)
|
rs1555926951
|
|
NM_007194.4(CHEK2):c.482A>C (p.Glu161Ala)
|
|
|
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly)
|
rs730881683
|
|
NM_007194.4(CHEK2):c.483A>C (p.Glu161Asp)
|
rs1601823895
|
|
NM_007194.4(CHEK2):c.483A>G (p.Glu161=)
|
rs1601823895
|
|
NM_007194.4(CHEK2):c.484G>A (p.Asp162Asn)
|
rs1555926943
|
|
NM_007194.4(CHEK2):c.484G>T (p.Asp162Tyr)
|
rs1555926943
|
|
NM_007194.4(CHEK2):c.485A>T (p.Asp162Val)
|
rs587781652
|
|
NM_007194.4(CHEK2):c.486T>A (p.Asp162Glu)
|
rs1569157761
|
|
NM_007194.4(CHEK2):c.486_488del (p.His163del)
|
rs1064794964
|
|
NM_007194.4(CHEK2):c.487C>G (p.His163Asp)
|
|
|
NM_007194.4(CHEK2):c.488A>C (p.His163Pro)
|
|
|
NM_007194.4(CHEK2):c.488A>G (p.His163Arg)
|
rs752304641
|
|
NM_007194.4(CHEK2):c.48T>C (p.Ser16=)
|
|
|
NM_007194.4(CHEK2):c.490A>G (p.Ser164Gly)
|
rs2053945090
|
|
NM_007194.4(CHEK2):c.490A>T (p.Ser164Cys)
|
rs2053945090
|
|
NM_007194.4(CHEK2):c.491G>A (p.Ser164Asn)
|
rs1555926921
|
|
NM_007194.4(CHEK2):c.491G>C (p.Ser164Thr)
|
rs1555926921
|
|
NM_007194.4(CHEK2):c.492T>G (p.Ser164Arg)
|
rs1601823792
|
|
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp)
|
rs876660846
|
|
NM_007194.4(CHEK2):c.494del (p.Gly165fs)
|
rs1569157733
|
|
NM_007194.4(CHEK2):c.495C>T (p.Gly165=)
|
rs2053944619
|
|
NM_007194.4(CHEK2):c.495_496delinsAT (p.Asn166Tyr)
|
rs2053944540
|
|
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs)
|
rs2146060162
|
|
NM_007194.4(CHEK2):c.496A>C (p.Asn166His)
|
rs876659089
|
|
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp)
|
rs876659089
|
|
NM_007194.4(CHEK2):c.498T>A (p.Asn166Lys)
|
rs759868962
|
|
NM_007194.4(CHEK2):c.498T>C (p.Asn166=)
|
|
|
NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)
|
|
|
NM_007194.4(CHEK2):c.500G>T (p.Gly167Val)
|
|
|
NM_007194.4(CHEK2):c.501_502delinsCC (p.Thr168Pro)
|
|
|
NM_007194.4(CHEK2):c.502A>C (p.Thr168Pro)
|
rs1601823689
|
|
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala)
|
rs1601823689
|
|
NM_007194.4(CHEK2):c.502del (p.Thr168fs)
|
rs2146059921
|
|
NM_007194.4(CHEK2):c.503C>A (p.Thr168Asn)
|
rs730881684
|
|
NM_007194.4(CHEK2):c.504del (p.Phe169fs)
|
rs2146059828
|
|
NM_007194.4(CHEK2):c.505T>A (p.Phe169Ile)
|
rs876659653
|
|
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu)
|
rs876659653
|
|
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val)
|
rs876659653
|
|
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser)
|
rs1555926890
|
|
NM_007194.4(CHEK2):c.506T>G (p.Phe169Cys)
|
rs1555926890
|
|
NM_007194.4(CHEK2):c.507T>A (p.Phe169Leu)
|
|
|
NM_007194.4(CHEK2):c.507_509del (p.Phe169_Val170delinsLeu)
|
rs876660363
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.509T>C (p.Val170Ala)
|
|
|
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
|
|
|
NM_007194.4(CHEK2):c.50C>G (p.Ala17Gly)
|
|
|
NM_007194.4(CHEK2):c.50C>T (p.Ala17Val)
|
rs2146154904
|
|
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
|
|
|
NM_007194.4(CHEK2):c.511A>C (p.Asn171His)
|
rs2146059522
|
|
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs)
|
rs2053942986
|
|
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser)
|
rs2146059474
|
|
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
|
|
|
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala)
|
rs786203836
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
NM_007194.4(CHEK2):c.515C>T (p.Thr172Ile)
|
rs1601823529
|
|
NM_007194.4(CHEK2):c.516A>G (p.Thr172=)
|
rs2146059358
|
|
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
|
|
|
NM_007194.4(CHEK2):c.517G>A (p.Glu173Lys)
|
rs876659804
|
|
NM_007194.4(CHEK2):c.518A>T (p.Glu173Val)
|
rs1601823504
|
|
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
|
|
|
NM_007194.4(CHEK2):c.519G>C (p.Glu173Asp)
|
rs2146059257
|
|
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.520C>G (p.Leu174Val)
|
rs876659400
|
|
NM_007194.4(CHEK2):c.521T>C (p.Leu174Pro)
|
rs2146059182
|
|
NM_007194.4(CHEK2):c.523G>A (p.Val175Ile)
|
|
|
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu)
|
rs2053942160
|
|
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
|
|
|
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>A (p.Gly176Arg)
|
rs876661085
|
|
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg)
|
rs876661085
|
|
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
|
|
|
NM_007194.4(CHEK2):c.527G>A (p.Gly176Glu)
|
rs1555926854
|
|
NM_007194.4(CHEK2):c.528G>A (p.Gly176=)
|
|
|
NM_007194.4(CHEK2):c.528del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.529A>C (p.Lys177Gln)
|
|
|
NM_007194.4(CHEK2):c.529A>G (p.Lys177Glu)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.52T>C (p.Cys18Arg)
|
rs2054336674
|
|
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)
|
rs876658857
|
|
NM_007194.4(CHEK2):c.530A>G (p.Lys177Arg)
|
|
|
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.532G>A (p.Gly178Arg)
|
rs1457055483
|
|
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg)
|
rs1457055483
|
|
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu)
|
rs864622691
|
|
NM_007194.4(CHEK2):c.533G>T (p.Gly178Val)
|
rs864622691
|
|
NM_007194.4(CHEK2):c.533_534insGAAAGT (p.Lys179_Arg180insValLys)
|
|
|
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.534A>G (p.Gly178=)
|
rs554465930
|
|
NM_007194.4(CHEK2):c.537A>G (p.Lys179=)
|
rs2146058652
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
NM_007194.4(CHEK2):c.538C>G (p.Arg180Gly)
|
|
|
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
|
|
|
NM_007194.4(CHEK2):c.539G>C (p.Arg180Pro)
|
rs137853009
|
|
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu)
|
rs137853009
|
|
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr)
|
rs151218932
|
|
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)
|
rs151218932
|
|
NM_007194.4(CHEK2):c.541C>A (p.Arg181Ser)
|
|
|
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs)
|
rs2053939874
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.544C>G (p.Pro182Ala)
|
|
|
NM_007194.4(CHEK2):c.544C>T (p.Pro182Ser)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.545dup (p.Leu183fs)
|
rs2146058345
|
|
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs)
|
rs2146058204
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser)
|
rs2053939966
|
|
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer)
|
rs2146058204
|
|
NM_007194.4(CHEK2):c.549_552del (p.Asn184fs)
|
|
|
NM_007194.4(CHEK2):c.54T>C (p.Cys18=)
|
rs1057523962
|
|
NM_007194.4(CHEK2):c.551A>G (p.Asn184Ser)
|
rs1444410452
|
|
NM_007194.4(CHEK2):c.552T>A (p.Asn184Lys)
|
|
|
NM_007194.4(CHEK2):c.554A>G (p.Asn185Ser)
|
rs2053939554
|
|
NM_007194.4(CHEK2):c.555C>A (p.Asn185Lys)
|
rs780782542
|
|
NM_007194.4(CHEK2):c.555C>G (p.Asn185Lys)
|
rs780782542
|
|
NM_007194.4(CHEK2):c.555C>T (p.Asn185=)
|
rs780782542
|
|
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.556A>G (p.Asn186Asp)
|
rs146198085
|
|
NM_007194.4(CHEK2):c.556A>T (p.Asn186Tyr)
|
rs146198085
|
|
NM_007194.4(CHEK2):c.557A>C (p.Asn186Thr)
|
|
|
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile)
|
rs369223840
|
|
NM_007194.4(CHEK2):c.557_559del (p.Asn186_Ser187delinsThr)
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
NM_007194.4(CHEK2):c.55del (p.Ser19fs)
|
rs2146154644
|
|
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr)
|
rs1555926784
|
|
NM_007194.4(CHEK2):c.561T>C (p.Ser187=)
|
rs1555926782
|
|
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
|
|
|
NM_007194.4(CHEK2):c.562G>A (p.Glu188Lys)
|
rs2053938596
|
|
NM_007194.4(CHEK2):c.563A>G (p.Glu188Gly)
|
rs757812205
|
|
NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)
|
|
|
NM_007194.4(CHEK2):c.566T>C (p.Ile189Thr)
|
rs1456708574
|
|
NM_007194.4(CHEK2):c.566T>G (p.Ile189Ser)
|
rs1456708574
|
|
NM_007194.4(CHEK2):c.568G>A (p.Ala190Thr)
|
rs764852525
|
|
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
|
|
|
NM_007194.4(CHEK2):c.569C>G (p.Ala190Gly)
|
rs786203483
|
|
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)
|
rs1555932877
|
|
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
|
|
|
NM_007194.4(CHEK2):c.570A>T (p.Ala190=)
|
rs754689169
|
|
NM_007194.4(CHEK2):c.571C>G (p.Leu191Val)
|
rs1555926762
|
|
NM_007194.4(CHEK2):c.571C>T (p.Leu191=)
|
|
|
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
|
|
|
NM_007194.4(CHEK2):c.572T>C (p.Leu191Pro)
|
rs1601822957
|
|
NM_007194.4(CHEK2):c.573_578del (p.191LS[1])
|
|
|
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
|
|
|
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)
|
rs899211928
|
|
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
|
|
|
NM_007194.4(CHEK2):c.576A>G (p.Ser192=)
|
rs1555926751
|
|
NM_007194.4(CHEK2):c.577C>T (p.Leu193=)
|
rs201716357
|
|
NM_007194.4(CHEK2):c.579A>G (p.Leu193=)
|
rs1569157233
|
|
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.580dup (p.Ser194fs)
|
|
|
NM_007194.4(CHEK2):c.581G>A (p.Ser194Asn)
|
rs1601822839
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
|
NM_007194.4(CHEK2):c.585A>T (p.Arg195Ser)
|
|
|
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp)
|
rs1060502693
|
|
NM_007194.4(CHEK2):c.587A>G (p.Asn196Ser)
|
rs863224751
|
|
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu)
|
rs2053936071
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.590A>G (p.Lys197Arg)
|
rs1555926718
|
|
NM_007194.4(CHEK2):c.591A>G (p.Lys197=)
|
rs1569157165
|
|
NM_007194.4(CHEK2):c.591A>T (p.Lys197Asn)
|
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.592+10T>C
|
|
|
NM_007194.4(CHEK2):c.592+12A>G
|
|
|
NM_007194.4(CHEK2):c.592+13T>C
|
rs1057521311
|
|
NM_007194.4(CHEK2):c.592+14C>T
|
|
|
NM_007194.4(CHEK2):c.592+14_592+18dup
|
|
|
NM_007194.4(CHEK2):c.592+16_592+17insGGTAATATTATTATCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCAGCC
|
rs2146055696
|
|
NM_007194.4(CHEK2):c.592+17A>G
|
rs2053934609
|
|
NM_007194.4(CHEK2):c.592+19G>A
|
rs1569157121
|
|
NM_007194.4(CHEK2):c.592+1G>A
|
rs1601822722
|
|
NM_007194.4(CHEK2):c.592+1G>T
|
|
|
NM_007194.4(CHEK2):c.592+20G>T
|
|
|
NM_007194.4(CHEK2):c.592+2T>A
|
|
|
NM_007194.4(CHEK2):c.592+2T>C
|
rs1601822717
|
|
NM_007194.4(CHEK2):c.592+3A>C
|
|
|
NM_007194.4(CHEK2):c.592+3A>G
|
|
|
NM_007194.4(CHEK2):c.592+4A>T
|
rs375905418
|
|
NM_007194.4(CHEK2):c.592+50A>C
|
rs17881298
|
|
NM_007194.4(CHEK2):c.592+5TAT[2]
|
rs1555926697
|
|
NM_007194.4(CHEK2):c.592+7T>C
|
rs2146055993
|
|
NM_007194.4(CHEK2):c.592+81del
|
rs746878232
|
|
NM_007194.4(CHEK2):c.592+8T>C
|
rs2146055953
|
|
NM_007194.4(CHEK2):c.592+9A>T
|
|
|
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)
|
rs1555926708
|
|
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)
|
rs1555926708
|
|
NM_007194.4(CHEK2):c.593-10T>G
|
rs2146007869
|
|
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.593-16C>T
|
rs1057523924
|
|
NM_007194.4(CHEK2):c.593-18T>C
|
rs1569150284
|
|
NM_007194.4(CHEK2):c.593-1G>A
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>C
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-2089T>C
|
rs1012399282
|
|
NM_007194.4(CHEK2):c.593-20T>G
|
rs1555924584
|
|
NM_007194.4(CHEK2):c.593-20_593-18del
|
rs752590759
|
|
NM_007194.4(CHEK2):c.593-2151A>T
|
rs1411302770
|
|
NM_007194.4(CHEK2):c.593-2162_593-2156dup
|
rs199835095
|
|
NM_007194.4(CHEK2):c.593-2A>C
|
|
|
NM_007194.4(CHEK2):c.593-2A>G
|
rs2146007633
|
|
NM_007194.4(CHEK2):c.593-2A>T
|
|
|
NM_007194.4(CHEK2):c.593-3T>C
|
rs2053697211
|
|
NM_007194.4(CHEK2):c.593-4T>A
|
rs2146007700
|
|
NM_007194.4(CHEK2):c.593-6C>T
|
|
|
NM_007194.4(CHEK2):c.593-7T>A
|
rs1555924549
|
|
NM_007194.4(CHEK2):c.593-9C>G
|
rs1057517597
|
|
NM_007194.4(CHEK2):c.593T>A (p.Val198Asp)
|
|
|
NM_007194.4(CHEK2):c.593T>C (p.Val198Ala)
|
rs1601806153
|
|
NM_007194.4(CHEK2):c.593T>G (p.Val198Gly)
|
rs1601806153
|
|
NM_007194.4(CHEK2):c.594T>C (p.Val198=)
|
rs2146007540
|
|
NM_007194.4(CHEK2):c.595T>G (p.Phe199Val)
|
rs2146007516
|
|
NM_007194.4(CHEK2):c.597T>C (p.Phe199=)
|
rs2146007453
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile)
|
rs730881704
|
|
NM_007194.4(CHEK2):c.598G>T (p.Val200Phe)
|
rs730881704
|
|
NM_007194.4(CHEK2):c.599T>A (p.Val200Asp)
|
|
|
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)
|
rs2053696720
|
|
NM_007194.4(CHEK2):c.5C>G (p.Ser2Cys)
|
|
|
NM_007194.4(CHEK2):c.600C>T (p.Val200=)
|
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
NM_007194.4(CHEK2):c.601T>A (p.Phe201Ile)
|
rs786202416
|
|
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val)
|
rs786202416
|
|
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser)
|
rs1555924525
|
|
NM_007194.4(CHEK2):c.602T>G (p.Phe201Cys)
|
rs1555924525
|
|
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu)
|
rs758529351
|
|
NM_007194.4(CHEK2):c.604_606del (p.Phe202del)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys)
|
rs2053696167
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606_607insSVAelement
|
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn)
|
rs1601806038
|
|
NM_007194.4(CHEK2):c.607del (p.Asp203fs)
|
|
|
NM_007194.4(CHEK2):c.608A>C (p.Asp203Ala)
|
rs587782813
|
|
NM_007194.4(CHEK2):c.608A>T (p.Asp203Val)
|
rs587782813
|
|
NM_007194.4(CHEK2):c.611T>A (p.Leu204Gln)
|
|
|
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro)
|
rs1569150113
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.614C>G (p.Thr205Ser)
|
rs759734429
|
|
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile)
|
rs759734429
|
|
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
|
|
|
NM_007194.4(CHEK2):c.615T>C (p.Thr205=)
|
rs1555924498
|
|
NM_007194.4(CHEK2):c.615T>G (p.Thr205=)
|
rs1555924498
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del)
|
rs1385692387
|
|
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr)
|
rs587782323
|
|
NM_007194.4(CHEK2):c.620A>T (p.Asp207Val)
|
|
|
NM_007194.4(CHEK2):c.621T>C (p.Asp207=)
|
rs1555924486
|
|
NM_007194.4(CHEK2):c.621del (p.Asp207fs)
|
rs1569150017
|
|
NM_007194.4(CHEK2):c.622G>T (p.Asp208Tyr)
|
rs2053694409
|
|
NM_007194.4(CHEK2):c.623A>T (p.Asp208Val)
|
rs1601805877
|
|
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
|
|
|
NM_007194.4(CHEK2):c.624T>A (p.Asp208Glu)
|
rs1555924474
|
|
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.625del (p.Gln209fs)
|
|
|
NM_007194.4(CHEK2):c.627G>A (p.Gln209=)
|
rs1165394017
|
|
NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.631G>T (p.Val211Phe)
|
rs1060502692
|
|
NM_007194.4(CHEK2):c.635A>C (p.Tyr212Ser)
|
|
|
NM_007194.4(CHEK2):c.635A>G (p.Tyr212Cys)
|
rs2053693253
|
|
NM_007194.4(CHEK2):c.635A>T (p.Tyr212Phe)
|
|
|
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
|
|
|
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter)
|
rs2053693149
|
|
NM_007194.4(CHEK2):c.637C>A (p.Pro213Thr)
|
|
|
NM_007194.4(CHEK2):c.638C>A (p.Pro213His)
|
rs1569149890
|
|
NM_007194.4(CHEK2):c.638C>G (p.Pro213Arg)
|
rs1569149890
|
|
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu)
|
rs1569149890
|
|
NM_007194.4(CHEK2):c.63C>T (p.Pro21=)
|
rs2146154036
|
|
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.644C>T (p.Ala215Val)
|
rs2146005998
|
|
NM_007194.4(CHEK2):c.644del (p.Ala215fs)
|
rs2146006030
|
|
NM_007194.4(CHEK2):c.647T>C (p.Leu216Ser)
|
|
|
NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)
|
|
|
NM_007194.4(CHEK2):c.647dup (p.Leu216fs)
|
|
|
NM_007194.4(CHEK2):c.649del (p.Arg217fs)
|
|
|
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr)
|
rs1601853823
|
|
NM_007194.4(CHEK2):c.64del (p.His22fs)
|
rs2054335480
|
|
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile)
|
rs1486909310
|
|
NM_007194.4(CHEK2):c.652G>T (p.Asp218Tyr)
|
rs1601805677
|
|
NM_007194.4(CHEK2):c.653A>G (p.Asp218Gly)
|
rs961959952
|
|
NM_007194.4(CHEK2):c.653A>T (p.Asp218Val)
|
|
|
NM_007194.4(CHEK2):c.654T>C (p.Asp218=)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu)
|
rs907621837
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.656_657del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp)
|
rs1222043566
|
|
NM_007194.4(CHEK2):c.657A>G (p.Glu219=)
|
rs1222043566
|
|
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.658T>A (p.Tyr220Asn)
|
rs1555924429
|
|
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His)
|
rs1555924429
|
|
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs)
|
rs2146005603
|
|
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys)
|
rs1060502690
|
|
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs)
|
rs2053691104
|
|
NM_007194.4(CHEK2):c.65A>G (p.His22Arg)
|
rs1601853800
|
|
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
|
|
|
NM_007194.4(CHEK2):c.660CAT[1] (p.Ile221del)
|
rs1569149693
|
|
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs)
|
rs2146005460
|
|
NM_007194.4(CHEK2):c.661A>C (p.Ile221Leu)
|
rs199749372
|
|
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs)
|
rs2146005334
|
|
NM_007194.4(CHEK2):c.663del (p.Met222fs)
|
|
|
NM_007194.4(CHEK2):c.664A>C (p.Met222Leu)
|
rs786203472
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
|
NM_007194.4(CHEK2):c.664_676del (p.Met222fs)
|
rs2146004773
|
|
NM_007194.4(CHEK2):c.664del (p.Met222fs)
|
rs2146005256
|
|
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys)
|
rs775134484
|
|
NM_007194.4(CHEK2):c.665T>G (p.Met222Arg)
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer)
|
rs2146005039
|
|
NM_007194.4(CHEK2):c.669A>C (p.Ser223=)
|
|
|
NM_007194.4(CHEK2):c.669_679del (p.Thr225fs)
|
|
|
NM_007194.4(CHEK2):c.66T>C (p.His22=)
|
|
|
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu)
|
rs2146004927
|
|
NM_007194.4(CHEK2):c.673A>C (p.Thr225Pro)
|
rs1555924390
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.674C>G (p.Thr225Ser)
|
rs2146004812
|
|
NM_007194.4(CHEK2):c.676C>G (p.Leu226Val)
|
|
|
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)
|
rs1296957097
|
|
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg)
|
rs878854920
|
|
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg)
|
rs878854920
|
|
NM_007194.4(CHEK2):c.679_680delinsCT (p.Gly227Leu)
|
|
|
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu)
|
rs2053689692
|
|
NM_007194.4(CHEK2):c.680G>T (p.Gly227Val)
|
rs2053689692
|
|
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
|
|
|
NM_007194.4(CHEK2):c.681_683+1del
|
|
|
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly)
|
rs745475247
|
|
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys)
|
rs745475247
|
|
NM_007194.4(CHEK2):c.683+10T>A
|
rs747427230
|
|
NM_007194.4(CHEK2):c.683+13C>A
|
rs778407044
|
|
NM_007194.4(CHEK2):c.683+14T>C
|
rs2146004216
|
|
NM_007194.4(CHEK2):c.683+17T>C
|
rs2053688522
|
|
NM_007194.4(CHEK2):c.683+18A>C
|
|
|
NM_007194.4(CHEK2):c.683+19T>G
|
rs2146004096
|
|
NM_007194.4(CHEK2):c.683+1G>A
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>C
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+1G>T
|
rs786203650
|
|
NM_007194.4(CHEK2):c.683+293C>T
|
|
|
NM_007194.4(CHEK2):c.683+2T>A
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>C
|
rs781021132
|
|
NM_007194.4(CHEK2):c.683+2T>G
|
|
|
NM_007194.4(CHEK2):c.683+4A>C
|
rs1064795509
|
|
NM_007194.4(CHEK2):c.683+4A>G
|
rs1064795509
|
|
NM_007194.4(CHEK2):c.683+5A>C
|
rs2146004424
|
|
NM_007194.4(CHEK2):c.683+6T>C
|
rs757664495
|
|
NM_007194.4(CHEK2):c.683+6T>G
|
|
|
NM_007194.4(CHEK2):c.683+7T>A
|
|
|
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn)
|
rs1601805361
|
|
NM_007194.4(CHEK2):c.684-10T>C
|
rs1601784458
|
|
NM_007194.4(CHEK2):c.684-11T>G
|
rs1392495288
|
|
NM_007194.4(CHEK2):c.684-13T>C
|
|
|
NM_007194.4(CHEK2):c.684-13T>G
|
|
|
NM_007194.4(CHEK2):c.684-14G>A
|
|
|
NM_007194.4(CHEK2):c.684-16T>C
|
rs1056041546
|
|
NM_007194.4(CHEK2):c.684-19del
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1G>C
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.684-1del
|
rs2145953393
|
|
NM_007194.4(CHEK2):c.684-1dup
|
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-2A>T
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
NM_007194.4(CHEK2):c.684-3_684-2del
|
|
|
NM_007194.4(CHEK2):c.684-4C>A
|
rs121908695
|
|
NM_007194.4(CHEK2):c.684-4C>T
|
rs121908695
|
|
NM_007194.4(CHEK2):c.684-5_684-2delinsC
|
rs2053419709
|
|
NM_007194.4(CHEK2):c.684-6del
|
|
|
NM_007194.4(CHEK2):c.684-7C>T
|
rs745408471
|
|
NM_007194.4(CHEK2):c.684-8C>G
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.684-9T>C
|
|
|
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser)
|
rs1064794948
|
|
NM_007194.4(CHEK2):c.685G>C (p.Gly229Arg)
|
rs1064794948
|
|
NM_007194.4(CHEK2):c.685G>T (p.Gly229Cys)
|
rs1064794948
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.686G>C (p.Gly229Ala)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.687T>C (p.Gly229=)
|
rs2145953175
|
|
NM_007194.4(CHEK2):c.688G>A (p.Ala230Thr)
|
rs748636216
|
|
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)
|
rs748636216
|
|
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
|
|
|
NM_007194.4(CHEK2):c.689C>A (p.Ala230Asp)
|
rs730881685
|
|
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val)
|
rs730881685
|
|
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp)
|
rs1601853772
|
|
NM_007194.4(CHEK2):c.68G>C (p.Gly23Ala)
|
rs1601853772
|
|
NM_007194.4(CHEK2):c.690C>G (p.Ala230=)
|
rs1569140952
|
|
NM_007194.4(CHEK2):c.691T>C (p.Cys231Arg)
|
rs2053418354
|
|
NM_007194.4(CHEK2):c.692G>T (p.Cys231Phe)
|
rs1555921335
|
|
NM_007194.4(CHEK2):c.693T>C (p.Cys231=)
|
rs2145952847
|
|
NM_007194.4(CHEK2):c.694G>A (p.Gly232Arg)
|
rs1555921319
|
|
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu)
|
rs779322187
|
|
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val)
|
rs779322187
|
|
NM_007194.4(CHEK2):c.696A>G (p.Gly232=)
|
|
|
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.698A>C (p.Glu233Ala)
|
rs1601783933
|
|
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly)
|
rs1601783933
|
|
NM_007194.4(CHEK2):c.699G>A (p.Glu233=)
|
rs1555921308
|
|
NM_007194.4(CHEK2):c.69C>T (p.Gly23=)
|
rs865997083
|
|
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs)
|
rs2146157133
|
|
NM_007194.4(CHEK2):c.700_705dup (p.Lys235_Leu236insValLys)
|
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
NM_007194.4(CHEK2):c.701T>G (p.Val234Gly)
|
rs2053416773
|
|
NM_007194.4(CHEK2):c.701_720del (p.Val234fs)
|
rs2145951528
|
|
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu)
|
rs780245843
|
|
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met)
|
|
|
NM_007194.4(CHEK2):c.705G>A (p.Lys235=)
|
rs1555921297
|
|
NM_007194.4(CHEK2):c.705G>C (p.Lys235Asn)
|
rs1555921297
|
|
NM_007194.4(CHEK2):c.706C>G (p.Leu236Val)
|
rs1060502694
|
|
NM_007194.4(CHEK2):c.706del (p.Leu236fs)
|
rs1555921290
|
|
NM_007194.4(CHEK2):c.70A>C (p.Ser24Arg)
|
rs2146153708
|
|
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp)
|
rs878854921
|
|
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val)
|
rs878854921
|
|
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
|
|
|
NM_007194.4(CHEK2):c.713T>C (p.Phe238Ser)
|
rs2145951876
|
|
NM_007194.4(CHEK2):c.714C>G (p.Phe238Leu)
|
rs864622322
|
|
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val)
|
rs763892124
|
|
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
|
|
|
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp)
|
rs1555921253
|
|
NM_007194.4(CHEK2):c.718A>G (p.Arg240Gly)
|
rs2053414553
|
|
NM_007194.4(CHEK2):c.718del (p.Arg240fs)
|
rs2145951649
|
|
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr)
|
rs1323633806
|
|
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
|
|
|
NM_007194.4(CHEK2):c.721A>G (p.Lys241Glu)
|
rs1555921240
|
|
NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)
|
|
|
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
|
|
|
NM_007194.4(CHEK2):c.724del (p.Thr242fs)
|
rs2145951385
|
|
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)
|
rs765136136
|
|
NM_007194.4(CHEK2):c.725del (p.Thr242fs)
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly)
|
rs141776984
|
|
NM_007194.4(CHEK2):c.728G>A (p.Cys243Tyr)
|
rs1555921203
|
|
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
|
|
|
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)
|
rs2145951132
|
|
NM_007194.4(CHEK2):c.72C>G (p.Ser24Arg)
|
|
|
NM_007194.4(CHEK2):c.72C>T (p.Ser24=)
|
rs759679862
|
|
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
|
|
|
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
|
|
|
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr)
|
rs587778193
|
|
NM_007194.4(CHEK2):c.731dup (p.Lys245fs)
|
|
|
NM_007194.4(CHEK2):c.732_733del (p.Lys245fs)
|
|
|
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter)
|
rs1601783375
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
NM_007194.4(CHEK2):c.735A>G (p.Lys245=)
|
rs773017534
|
|
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile)
|
rs748504161
|
|
NM_007194.4(CHEK2):c.736G>C (p.Val246Leu)
|
rs748504161
|
|
NM_007194.4(CHEK2):c.737_739del (p.Val246del)
|
rs571741738
|
|
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs)
|
rs2145949099
|
|
NM_007194.4(CHEK2):c.739G>A (p.Ala247Thr)
|
rs2053411813
|
|
NM_007194.4(CHEK2):c.739G>C (p.Ala247Pro)
|
rs2053411813
|
|
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
|
|
|
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp)
|
rs1064795978
|
|
NM_007194.4(CHEK2):c.740C>T (p.Ala247Val)
|
rs1064795978
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.742A>T (p.Ile248Leu)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.743T>A (p.Ile248Lys)
|
rs2053411134
|
|
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr)
|
rs2053411134
|
|
NM_007194.4(CHEK2):c.743T>G (p.Ile248Arg)
|
rs2053411134
|
|
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
|
|
|
NM_007194.4(CHEK2):c.743dup (p.Ile250fs)
|
rs2145950548
|
|
NM_007194.4(CHEK2):c.744A>G (p.Ile248Met)
|
|
|
NM_007194.4(CHEK2):c.745A>C (p.Lys249Gln)
|
rs1555921132
|
|
NM_007194.4(CHEK2):c.746A>G (p.Lys249Arg)
|
|
|
NM_007194.4(CHEK2):c.746A>T (p.Lys249Met)
|
rs1601783227
|
|
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
|
|
|
NM_007194.4(CHEK2):c.747G>C (p.Lys249Asn)
|
rs749366698
|
|
NM_007194.4(CHEK2):c.747G>T (p.Lys249Asn)
|
rs749366698
|
|
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr)
|
rs1060502719
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
NM_007194.4(CHEK2):c.750C>A (p.Ile250=)
|
rs1601783180
|
|
NM_007194.4(CHEK2):c.750_761del (p.Ile250_Arg254delinsMet)
|
|
|
NM_007194.4(CHEK2):c.750del (p.Ile251fs)
|
rs2145950251
|
|
NM_007194.4(CHEK2):c.752T>A (p.Ile251Asn)
|
rs2053410234
|
|
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr)
|
rs2053410234
|
|
NM_007194.4(CHEK2):c.754A>G (p.Ser252Gly)
|
rs780042868
|
|
NM_007194.4(CHEK2):c.756C>T (p.Ser252=)
|
rs2145949942
|
|
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
|
|
|
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.759A>C (p.Lys253Asn)
|
rs876658377
|
|
NM_007194.4(CHEK2):c.75T>C (p.Val25=)
|
rs1555932812
|
|
NM_007194.4(CHEK2):c.760A>C (p.Arg254=)
|
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
NM_007194.4(CHEK2):c.761G>A (p.Arg254Lys)
|
rs2053409162
|
|
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)
|
rs878854922
|
|
NM_007194.4(CHEK2):c.762del (p.Lys255fs)
|
rs1131691044
|
|
NM_007194.4(CHEK2):c.763A>C (p.Lys255Gln)
|
|
|
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter)
|
rs2053408810
|
|
NM_007194.4(CHEK2):c.764A>G (p.Lys255Arg)
|
rs2145949631
|
|
NM_007194.4(CHEK2):c.765G>A (p.Lys255=)
|
rs750596640
|
|
NM_007194.4(CHEK2):c.768dup (p.Ala257fs)
|
rs2145949535
|
|
NM_007194.4(CHEK2):c.769G>C (p.Ala257Pro)
|
rs2053408556
|
|
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
|
|
|
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val)
|
rs1060502717
|
|
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val)
|
rs876658690
|
|
NM_007194.4(CHEK2):c.772A>T (p.Ile258Phe)
|
rs876658690
|
|
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs)
|
rs2145949378
|
|
NM_007194.4(CHEK2):c.775G>T (p.Gly259Cys)
|
rs786201923
|
|
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
|
|
|
NM_007194.4(CHEK2):c.776G>C (p.Gly259Ala)
|
rs1569140096
|
|
NM_007194.4(CHEK2):c.776del (p.Gly259fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.777T>C (p.Gly259=)
|
rs876659828
|
|
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
|
|
|
NM_007194.4(CHEK2):c.778T>C (p.Ser260Pro)
|
|
|
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)
|
rs1060502710
|
|
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
|
|
|
NM_007194.4(CHEK2):c.779C>T (p.Ser260Leu)
|
|
|
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer)
|
rs2145949157
|
|
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn)
|
rs878854923
|
|
NM_007194.4(CHEK2):c.77C>T (p.Thr26Ile)
|
|
|
NM_007194.4(CHEK2):c.781G>T (p.Ala261Ser)
|
|
|
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
|
|
|
NM_007194.4(CHEK2):c.783A>G (p.Ala261=)
|
rs2145949000
|
|
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs)
|
rs1060502687
|
|
NM_007194.4(CHEK2):c.785G>A (p.Arg262Lys)
|
rs1601782873
|
|
NM_007194.4(CHEK2):c.786A>G (p.Arg262=)
|
rs2145948918
|
|
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.787_792+5dup
|
rs2145948560
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
NM_007194.4(CHEK2):c.789G>A (p.Glu263=)
|
|
|
NM_007194.4(CHEK2):c.789G>T (p.Glu263Asp)
|
rs1555921029
|
|
NM_007194.4(CHEK2):c.78C>G (p.Thr26=)
|
|
|
NM_007194.4(CHEK2):c.78C>T (p.Thr26=)
|
rs876658717
|
|
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)
|
rs1601853585
|
|
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser)
|
rs752493299
|
|
NM_007194.4(CHEK2):c.792+13A>G
|
rs2145948294
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.792+1G>C
|
|
|
NM_007194.4(CHEK2):c.792+2T>A
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2T>G
|
rs545982789
|
|
NM_007194.4(CHEK2):c.792+2_792+17del
|
|
|
NM_007194.4(CHEK2):c.792+4A>G
|
rs1555921009
|
|
NM_007194.4(CHEK2):c.792+5G>A
|
rs876658514
|
|
NM_007194.4(CHEK2):c.792+5_792+7del
|
rs2053405998
|
|
NM_007194.4(CHEK2):c.792+6T>A
|
|
|
NM_007194.4(CHEK2):c.792+6T>C
|
|
|
NM_007194.4(CHEK2):c.792+6T>G
|
rs2145948490
|
|
NM_007194.4(CHEK2):c.792+7A>G
|
rs1601782720
|
|
NM_007194.4(CHEK2):c.792+7A>T
|
rs1601782720
|
|
NM_007194.4(CHEK2):c.792+9C>A
|
rs2145948378
|
|
NM_007194.4(CHEK2):c.792A>G (p.Ala264=)
|
rs2053406573
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
|
NM_007194.4(CHEK2):c.793-10T>C
|
rs2053338194
|
|
NM_007194.4(CHEK2):c.793-110_846+2del
|
rs2145932387
|
|
NM_007194.4(CHEK2):c.793-12T>A
|
rs1555920271
|
|
NM_007194.4(CHEK2):c.793-12T>C
|
rs1555920271
|
|
NM_007194.4(CHEK2):c.793-12T>G
|
rs1555920271
|
|
NM_007194.4(CHEK2):c.793-15T>C
|
rs1297980569
|
|
NM_007194.4(CHEK2):c.793-15T>G
|
|
|
NM_007194.4(CHEK2):c.793-17T>G
|
rs778511901
|
|
NM_007194.4(CHEK2):c.793-19del
|
rs2145934693
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-1G>T
|
rs730881687
|
|
NM_007194.4(CHEK2):c.793-20T>A
|
rs2145934712
|
|
NM_007194.4(CHEK2):c.793-20T>G
|
|
|
NM_007194.4(CHEK2):c.793-21_793-20del
|
|
|
NM_007194.4(CHEK2):c.793-2A>G
|
rs1555920257
|
|
NM_007194.4(CHEK2):c.793-3A>C
|
|
|
NM_007194.4(CHEK2):c.793-3A>G
|
rs878854924
|
|
NM_007194.4(CHEK2):c.793-6T>A
|
|
|
NM_007194.4(CHEK2):c.793-7A>G
|
rs1569138057
|
|
NM_007194.4(CHEK2):c.793-8T>G
|
rs2145934407
|
|
NM_007194.4(CHEK2):c.793-9_793-8del
|
rs1480956379
|
|
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn)
|
rs1064793689
|
|
NM_007194.4(CHEK2):c.794A>G (p.Asp265Gly)
|
rs2053337433
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu)
|
rs786203778
|
|
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.79del (p.Gln27fs)
|
rs2146153237
|
|
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val)
|
rs2053336861
|
|
NM_007194.4(CHEK2):c.802C>G (p.Leu268Val)
|
rs766462610
|
|
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe)
|
rs766462610
|
|
NM_007194.4(CHEK2):c.803T>C (p.Leu268Pro)
|
rs2145933943
|
|
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs)
|
rs2053336290
|
|
NM_007194.4(CHEK2):c.804C>T (p.Leu268=)
|
|
|
NM_007194.4(CHEK2):c.804_818del (p.Asn269_Glu273del)
|
rs2145933418
|
|
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp)
|
rs2053336086
|
|
NM_007194.4(CHEK2):c.806A>G (p.Asn269Ser)
|
|
|
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs)
|
rs2053335818
|
|
NM_007194.4(CHEK2):c.808G>A (p.Val270Ile)
|
rs2053335680
|
|
NM_007194.4(CHEK2):c.808G>C (p.Val270Leu)
|
rs2053335680
|
|
NM_007194.4(CHEK2):c.808del (p.Val270fs)
|
|
|
NM_007194.4(CHEK2):c.809T>G (p.Val270Gly)
|
rs876660258
|
|
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro)
|
rs1060502697
|
|
NM_007194.4(CHEK2):c.80A>G (p.Gln27Arg)
|
rs1060502697
|
|
NM_007194.4(CHEK2):c.810T>C (p.Val270=)
|
rs1601777666
|
|
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala)
|
rs1426981647
|
|
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile)
|
rs2053334664
|
|
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
|
|
|
NM_007194.4(CHEK2):c.816A>G (p.Thr272=)
|
|
|
NM_007194.4(CHEK2):c.817G>A (p.Glu273Lys)
|
rs587782152
|
|
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.818A>G (p.Glu273Gly)
|
rs755666375
|
|
NM_007194.4(CHEK2):c.818A>T (p.Glu273Val)
|
rs755666375
|
|
NM_007194.4(CHEK2):c.819A>C (p.Glu273Asp)
|
rs2053333611
|
|
NM_007194.4(CHEK2):c.819A>T (p.Glu273Asp)
|
rs2053333611
|
|
NM_007194.4(CHEK2):c.81G>C (p.Gln27His)
|
rs2054333241
|
|
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
|
|
|
NM_007194.4(CHEK2):c.822A>C (p.Ile274=)
|
rs1601777559
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.824A>G (p.Glu275Gly)
|
|
|
NM_007194.4(CHEK2):c.825A>T (p.Glu275Asp)
|
rs2145933082
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
NM_007194.4(CHEK2):c.827T>A (p.Ile276Asn)
|
rs878854925
|
|
NM_007194.4(CHEK2):c.827T>C (p.Ile276Thr)
|
rs878854925
|
|
NM_007194.4(CHEK2):c.827T>G (p.Ile276Ser)
|
rs878854925
|
|
NM_007194.4(CHEK2):c.828T>C (p.Ile276=)
|
rs1601777471
|
|
NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet)
|
rs1569137812
|
|
NM_007194.4(CHEK2):c.829T>C (p.Leu277=)
|
|
|
NM_007194.4(CHEK2):c.82T>C (p.Ser28Pro)
|
|
|
NM_007194.4(CHEK2):c.82del (p.Ser28fs)
|
rs2146153089
|
|
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter)
|
rs1555920150
|
|
NM_007194.4(CHEK2):c.830T>C (p.Leu277Ser)
|
rs1555920150
|
|
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
|
|
|
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe)
|
rs876659698
|
|
NM_007194.4(CHEK2):c.833A>T (p.Lys278Ile)
|
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
NM_007194.4(CHEK2):c.837G>C (p.Lys279Asn)
|
|
|
NM_007194.4(CHEK2):c.838C>T (p.Leu280=)
|
rs2145932680
|
|
NM_007194.4(CHEK2):c.839T>A (p.Leu280Gln)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg)
|
rs1490781911
|
|
NM_007194.4(CHEK2):c.83C>A (p.Ser28Tyr)
|
|
|
NM_007194.4(CHEK2):c.83C>T (p.Ser28Phe)
|
|
|
NM_007194.4(CHEK2):c.840A>G (p.Leu280=)
|
|
|
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr)
|
rs587782196
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
NM_007194.4(CHEK2):c.843T>C (p.Asn281=)
|
rs2145932503
|
|
NM_007194.4(CHEK2):c.844C>A (p.His282Asn)
|
rs774068238
|
|
NM_007194.4(CHEK2):c.844C>T (p.His282Tyr)
|
rs774068238
|
|
NM_007194.4(CHEK2):c.844_846+16delinsTATTA
|
|
|
NM_007194.4(CHEK2):c.846+10A>G
|
rs1345067762
|
|
NM_007194.4(CHEK2):c.846+10A>T
|
rs1345067762
|
|
NM_007194.4(CHEK2):c.846+13A>G
|
rs2145932031
|
|
NM_007194.4(CHEK2):c.846+15A>G
|
|
|
NM_007194.4(CHEK2):c.846+15_846+16del
|
rs775989721
|
|
NM_007194.4(CHEK2):c.846+16T>C
|
rs2145931903
|
|
NM_007194.4(CHEK2):c.846+16_846+17insTTACATACTTAGATTTATTATTATACTTACATACTTA
|
rs2145931883
|
|
NM_007194.4(CHEK2):c.846+16dup
|
|
|
NM_007194.4(CHEK2):c.846+17G>A
|
|
|
NM_007194.4(CHEK2):c.846+18A>G
|
|
|
NM_007194.4(CHEK2):c.846+1G>A
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1G>T
|
rs864622149
|
|
NM_007194.4(CHEK2):c.846+1_846+2delinsC
|
|
|
NM_007194.4(CHEK2):c.846+2T>A
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>C
|
rs1601777275
|
|
NM_007194.4(CHEK2):c.846+2T>G
|
|
|
NM_007194.4(CHEK2):c.846+2dup
|
rs1555920102
|
|
NM_007194.4(CHEK2):c.846+3A>C
|
|
|
NM_007194.4(CHEK2):c.846+3A>T
|
rs1476026799
|
|
NM_007194.4(CHEK2):c.846+4A>G
|
rs991112775
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.846+4del
|
rs2053328503
|
|
NM_007194.4(CHEK2):c.846+5G>T
|
rs764394796
|
|
NM_007194.4(CHEK2):c.846+6T>C
|
rs1555920090
|
|
NM_007194.4(CHEK2):c.846+7A>T
|
|
|
NM_007194.4(CHEK2):c.846+8T>G
|
rs1601777172
|
|
NM_007194.4(CHEK2):c.846+9del
|
rs1555920086
|
|
NM_007194.4(CHEK2):c.846T>A (p.His282Gln)
|
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
NM_007194.4(CHEK2):c.846T>G (p.His282Gln)
|
|
|
NM_007194.4(CHEK2):c.847-1002_908+1031del
|
|
|
NM_007194.4(CHEK2):c.847-10del
|
rs1060504694
|
|
NM_007194.4(CHEK2):c.847-11C>G
|
|
|
NM_007194.4(CHEK2):c.847-11_847-8dup
|
rs2145879303
|
|
NM_007194.4(CHEK2):c.847-12C>G
|
rs769724628
|
|
NM_007194.4(CHEK2):c.847-12C>T
|
|
|
NM_007194.4(CHEK2):c.847-12_847-2delinsTTG
|
|
|
NM_007194.4(CHEK2):c.847-13C>A
|
rs1250665442
|
|
NM_007194.4(CHEK2):c.847-14_847-13insGAA
|
|
|
NM_007194.4(CHEK2):c.847-14_847-13inv
|
|
|
NM_007194.4(CHEK2):c.847-14_847-2del
|
rs1293617484
|
|
NM_007194.4(CHEK2):c.847-14_847-2delinsGG
|
rs1555917041
|
|
NM_007194.4(CHEK2):c.847-16C>G
|
|
|
NM_007194.4(CHEK2):c.847-16C>T
|
|
|
NM_007194.4(CHEK2):c.847-17T>G
|
|
|
NM_007194.4(CHEK2):c.847-1G>A
|
rs878854926
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.847-1_893del
|
|
|
NM_007194.4(CHEK2):c.847-21_847-15del
|
|
|
NM_007194.4(CHEK2):c.847-2A>C
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.847-2A>T
|
|
|
NM_007194.4(CHEK2):c.847-2_857del
|
rs2145878627
|
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
|
NM_007194.4(CHEK2):c.847-3T>G
|
rs1159089063
|
|
NM_007194.4(CHEK2):c.847-5C>G
|
rs1555917045
|
|
NM_007194.4(CHEK2):c.847-5_847-3del
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
NM_007194.4(CHEK2):c.847-7T>C
|
rs1057520267
|
|
NM_007194.4(CHEK2):c.847-8C>T
|
rs2145879286
|
|
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser)
|
rs1555917036
|
|
NM_007194.4(CHEK2):c.848C>A (p.Pro283His)
|
rs781222802
|
|
NM_007194.4(CHEK2):c.848C>T (p.Pro283Leu)
|
|
|
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.850T>C (p.Cys284Arg)
|
rs2052982636
|
|
NM_007194.4(CHEK2):c.850del (p.Cys284fs)
|
|
|
NM_007194.4(CHEK2):c.851del (p.Cys284fs)
|
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.852C>T (p.Cys284=)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val)
|
rs1555917027
|
|
NM_007194.4(CHEK2):c.853A>T (p.Ile285Phe)
|
rs1555917027
|
|
NM_007194.4(CHEK2):c.854TCA[1] (p.Ile286del)
|
rs1555917015
|
|
NM_007194.4(CHEK2):c.855C>T (p.Ile285=)
|
rs756692505
|
|
NM_007194.4(CHEK2):c.856A>C (p.Ile286Leu)
|
rs986132746
|
|
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.858C>A (p.Ile286=)
|
rs2145878513
|
|
NM_007194.4(CHEK2):c.858C>T (p.Ile286=)
|
rs2145878513
|
|
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met)
|
rs876659184
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.861G>T (p.Lys287Asn)
|
|
|
NM_007194.4(CHEK2):c.862A>G (p.Ile288Val)
|
|
|
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe)
|
rs1341939689
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
NM_007194.4(CHEK2):c.865_876del (p.Lys289_Phe292del)
|
rs2145877927
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro)
|
rs876660019
|
|
NM_007194.4(CHEK2):c.86A>G (p.Gln29Arg)
|
rs876660019
|
|
NM_007194.4(CHEK2):c.870C>A (p.Asn290Lys)
|
rs2052980129
|
|
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs)
|
rs2052980434
|
|
NM_007194.4(CHEK2):c.870del (p.Phe292fs)
|
rs1555916987
|
|
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile)
|
rs2052980010
|
|
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
|
|
|
NM_007194.4(CHEK2):c.874T>A (p.Phe292Ile)
|
|
|
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.877G>A (p.Asp293Asn)
|
rs876658152
|
|
NM_007194.4(CHEK2):c.877G>C (p.Asp293His)
|
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala)
|
rs932236548
|
|
NM_007194.4(CHEK2):c.878A>G (p.Asp293Gly)
|
rs932236548
|
|
NM_007194.4(CHEK2):c.879T>C (p.Asp293=)
|
rs1601752583
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
NM_007194.4(CHEK2):c.87_107dup (p.Ser31_Gly37dup)
|
rs762863407
|
|
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr)
|
rs2145877658
|
|
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly)
|
rs1555916963
|
|
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.883G>A (p.Glu295Lys)
|
rs1345979642
|
|
NM_007194.4(CHEK2):c.883G>C (p.Glu295Gln)
|
rs1345979642
|
|
NM_007194.4(CHEK2):c.884A>G (p.Glu295Gly)
|
rs751136808
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp)
|
rs1555916935
|
|
NM_007194.4(CHEK2):c.886G>A (p.Asp296Asn)
|
rs876659553
|
|
NM_007194.4(CHEK2):c.886G>C (p.Asp296His)
|
rs876659553
|
|
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly)
|
rs777397542
|
|
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val)
|
rs777397542
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
NM_007194.4(CHEK2):c.888_908+2dup
|
|
|
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser)
|
rs1555932749
|
|
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
|
|
|
NM_007194.4(CHEK2):c.891T>C (p.Tyr297=)
|
|
|
NM_007194.4(CHEK2):c.891_908+3del
|
rs2145876703
|
|
NM_007194.4(CHEK2):c.892T>G (p.Tyr298Asp)
|
rs878854927
|
|
NM_007194.4(CHEK2):c.892del (p.Tyr298fs)
|
rs2145877300
|
|
NM_007194.4(CHEK2):c.893A>C (p.Tyr298Ser)
|
|
|
NM_007194.4(CHEK2):c.893A>G (p.Tyr298Cys)
|
rs1569128113
|
|
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.893dup (p.Tyr298Ter)
|
|
|
NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)
|
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.894dup (p.Ile299fs)
|
|
|
NM_007194.4(CHEK2):c.895A>G (p.Ile299Val)
|
rs1555916906
|
|
NM_007194.4(CHEK2):c.895A>T (p.Ile299Phe)
|
|
|
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser)
|
rs876659870
|
|
NM_007194.4(CHEK2):c.897T>G (p.Ile299Met)
|
|
|
NM_007194.4(CHEK2):c.897del (p.Ile299fs)
|
|
|
NM_007194.4(CHEK2):c.898G>A (p.Val300Ile)
|
rs1171168822
|
|
NM_007194.4(CHEK2):c.898G>T (p.Val300Phe)
|
|
|
NM_007194.4(CHEK2):c.898del (p.Val300fs)
|
|
|
NM_007194.4(CHEK2):c.899T>G (p.Val300Gly)
|
rs1467276809
|
|
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro)
|
rs779607427
|
|
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu)
|
rs779607427
|
|
NM_007194.4(CHEK2):c.900T>G (p.Val300=)
|
rs1601752225
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902T>C (p.Leu301Ser)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.903_908+26del
|
rs2145876249
|
|
NM_007194.4(CHEK2):c.904G>C (p.Glu302Gln)
|
rs587782460
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
NM_007194.4(CHEK2):c.905A>T (p.Glu302Val)
|
|
|
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+10A>C
|
|
|
NM_007194.4(CHEK2):c.908+11A>T
|
rs1555916864
|
|
NM_007194.4(CHEK2):c.908+13C>G
|
rs2145876482
|
|
NM_007194.4(CHEK2):c.908+14T>A
|
|
|
NM_007194.4(CHEK2):c.908+14T>G
|
rs538313507
|
|
NM_007194.4(CHEK2):c.908+1540_1095+330del
|
|
|
NM_007194.4(CHEK2):c.908+16T>C
|
rs1198651411
|
|
NM_007194.4(CHEK2):c.908+17_908+18del
|
rs778668907
|
|
NM_007194.4(CHEK2):c.908+18T>C
|
rs755416802
|
|
NM_007194.4(CHEK2):c.908+18del
|
rs778668907
|
|
NM_007194.4(CHEK2):c.908+18dup
|
|
|
NM_007194.4(CHEK2):c.908+19A>G
|
rs759973493
|
|
NM_007194.4(CHEK2):c.908+1G>A
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1_908+13delinsTTTAAAA
|
|
|
NM_007194.4(CHEK2):c.908+2T>A
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007194.4(CHEK2):c.908+2dup
|
|
|
NM_007194.4(CHEK2):c.908+3A>C
|
|
|
NM_007194.4(CHEK2):c.908+3A>T
|
rs1601752050
|
|
NM_007194.4(CHEK2):c.908+4A>G
|
rs2145876658
|
|
NM_007194.4(CHEK2):c.908+4A>T
|
|
|
NM_007194.4(CHEK2):c.908+4del
|
rs1555916874
|
|
NM_007194.4(CHEK2):c.908+5G>A
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.908+5G>C
|
rs1064796016
|
|
NM_007194.4(CHEK2):c.908+6T>A
|
rs748988275
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
|
NM_007194.4(CHEK2):c.908+6del
|
rs2052973458
|
|
NM_007194.4(CHEK2):c.908+715_1095+298del
|
|
|
NM_007194.4(CHEK2):c.908+7A>G
|
rs2052973187
|
|
NM_007194.4(CHEK2):c.908+7A>T
|
rs2052973187
|
|
NM_007194.4(CHEK2):c.908+8G>A
|
rs1555916871
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.908T>G (p.Leu303Trp)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.909-10T>C
|
rs864622231
|
|
NM_007194.4(CHEK2):c.909-10T>G
|
rs864622231
|
|
NM_007194.4(CHEK2):c.909-14C>T
|
rs2145845553
|
|
NM_007194.4(CHEK2):c.909-14_909-9del
|
|
|
NM_007194.4(CHEK2):c.909-15G>A
|
rs2145845569
|
|
NM_007194.4(CHEK2):c.909-18C>A
|
|
|
NM_007194.4(CHEK2):c.909-19C>T
|
rs1555915594
|
|
NM_007194.4(CHEK2):c.909-1G>A
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>C
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1G>T
|
rs886039721
|
|
NM_007194.4(CHEK2):c.909-1_909delinsAC
|
|
|
NM_007194.4(CHEK2):c.909-20G>A
|
rs2145845675
|
|
NM_007194.4(CHEK2):c.909-20G>T
|
|
|
NM_007194.4(CHEK2):c.909-28_909-20del
|
rs1555915597
|
|
NM_007194.4(CHEK2):c.909-29_909-12del
|
|
|
NM_007194.4(CHEK2):c.909-2A>G
|
rs1555915589
|
|
NM_007194.4(CHEK2):c.909-3C>G
|
rs1569121928
|
|
NM_007194.4(CHEK2):c.909-3C>T
|
rs1569121928
|
|
NM_007194.4(CHEK2):c.909-3del
|
rs2145845352
|
|
NM_007194.4(CHEK2):c.909-49_1095+51del
|
|
|
NM_007194.4(CHEK2):c.909-4del
|
rs2145845390
|
|
NM_007194.4(CHEK2):c.909-5T>A
|
rs2145845414
|
|
NM_007194.4(CHEK2):c.909-6T>A
|
|
|
NM_007194.4(CHEK2):c.909-7G>A
|
rs2145845433
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
NM_007194.4(CHEK2):c.909G>A (p.Leu303=)
|
rs786202256
|
|
NM_007194.4(CHEK2):c.90C>T (p.Gly30=)
|
rs1555932724
|
|
NM_007194.4(CHEK2):c.90CTC[2] (p.Ser33del)
|
rs1569171353
|
|
NM_007194.4(CHEK2):c.910A>T (p.Met304Leu)
|
rs769436449
|
|
NM_007194.4(CHEK2):c.911T>G (p.Met304Arg)
|
rs587782033
|
|
NM_007194.4(CHEK2):c.914A>G (p.Glu305Gly)
|
rs587783052
|
|
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.917G>T (p.Gly306Val)
|
rs587780192
|
|
NM_007194.4(CHEK2):c.918G>C (p.Gly306=)
|
rs1057523756
|
|
NM_007194.4(CHEK2):c.919G>A (p.Gly307Arg)
|
rs1555915533
|
|
NM_007194.4(CHEK2):c.919G>C (p.Gly307Arg)
|
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
|
|
NM_007194.4(CHEK2):c.919_940del (p.Gly307fs)
|
rs2145844027
|
|
NM_007194.4(CHEK2):c.91T>C (p.Ser31Pro)
|
|
|
NM_007194.4(CHEK2):c.91_111dup (p.Ser31_Gly37dup)
|
rs876658135
|
|
NM_007194.4(CHEK2):c.91del (p.Ser31fs)
|
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.921A>C (p.Gly307=)
|
rs1601739316
|
|
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
|
|
|
NM_007194.4(CHEK2):c.922G>A (p.Glu308Lys)
|
|
|
NM_007194.4(CHEK2):c.923A>G (p.Glu308Gly)
|
rs2145844660
|
|
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
|
|
|
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp)
|
rs1601739269
|
|
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met)
|
rs1569121657
|
|
NM_007194.4(CHEK2):c.925C>G (p.Leu309Val)
|
rs786202521
|
|
NM_007194.4(CHEK2):c.925C>T (p.Leu309=)
|
rs786202521
|
|
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
|
|
|
NM_007194.4(CHEK2):c.927G>A (p.Leu309=)
|
rs746952353
|
|
NM_007194.4(CHEK2):c.928T>G (p.Phe310Val)
|
rs2052767851
|
|
NM_007194.4(CHEK2):c.929T>G (p.Phe310Cys)
|
|
|
NM_007194.4(CHEK2):c.92C>G (p.Ser31Cys)
|
|
|
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe)
|
rs1555932714
|
|
NM_007194.4(CHEK2):c.930T>C (p.Phe310=)
|
|
|
NM_007194.4(CHEK2):c.931G>C (p.Asp311His)
|
rs587782347
|
|
NM_007194.4(CHEK2):c.932A>G (p.Asp311Gly)
|
rs1569121571
|
|
NM_007194.4(CHEK2):c.935A>C (p.Lys312Thr)
|
rs1157311218
|
|
NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg)
|
rs1157311218
|
|
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala)
|
rs1039682955
|
|
NM_007194.4(CHEK2):c.938T>G (p.Val313Gly)
|
|
|
NM_007194.4(CHEK2):c.938del (p.Val313fs)
|
rs2052766776
|
|
NM_007194.4(CHEK2):c.939G>A (p.Val313=)
|
rs1555915485
|
|
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu)
|
rs778573074
|
|
NM_007194.4(CHEK2):c.941del (p.Val314fs)
|
rs1601738999
|
|
NM_007194.4(CHEK2):c.942G>A (p.Val314=)
|
rs1057520467
|
|
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg)
|
rs1569121455
|
|
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu)
|
rs1555915471
|
|
NM_007194.4(CHEK2):c.945G>T (p.Gly315=)
|
rs876659711
|
|
NM_007194.4(CHEK2):c.945del (p.Asn316fs)
|
rs2052765649
|
|
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys)
|
rs1569121419
|
|
NM_007194.4(CHEK2):c.948del (p.Asn316fs)
|
rs2052765413
|
|
NM_007194.4(CHEK2):c.94del (p.Ser32fs)
|
rs2146152456
|
|
NM_007194.4(CHEK2):c.950A>G (p.Lys317Arg)
|
rs1601738869
|
|
NM_007194.4(CHEK2):c.951A>G (p.Lys317=)
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.953G>C (p.Arg318Pro)
|
rs143611747
|
|
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu)
|
rs143611747
|
|
NM_007194.4(CHEK2):c.954C>G (p.Arg318=)
|
|
|
NM_007194.4(CHEK2):c.955C>G (p.Leu319Val)
|
rs1057524600
|
|
NM_007194.4(CHEK2):c.955C>T (p.Leu319=)
|
rs1057524600
|
|
NM_007194.4(CHEK2):c.956T>G (p.Leu319Arg)
|
rs766794072
|
|
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
|
|
|
NM_007194.4(CHEK2):c.957G>A (p.Leu319=)
|
rs1310156280
|
|
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu)
|
rs587782480
|
|
NM_007194.4(CHEK2):c.960A>G (p.Lys320=)
|
rs1237880782
|
|
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn)
|
rs1237880782
|
|
NM_007194.4(CHEK2):c.961G>A (p.Glu321Lys)
|
rs1555915433
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
NM_007194.4(CHEK2):c.963del (p.Ala322fs)
|
rs2052762437
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_007194.4(CHEK2):c.968C>T (p.Thr323Ile)
|
rs2052761923
|
|
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs)
|
rs2145842905
|
|
NM_007194.4(CHEK2):c.969C>T (p.Thr323=)
|
rs2145842868
|
|
NM_007194.4(CHEK2):c.96C>G (p.Ser32=)
|
rs1601853447
|
|
NM_007194.4(CHEK2):c.96C>T (p.Ser32=)
|
|
|
NM_007194.4(CHEK2):c.971G>A (p.Cys324Tyr)
|
rs1569121161
|
|
NM_007194.4(CHEK2):c.971del (p.Cys324fs)
|
rs1569121172
|
|
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp)
|
rs1060502712
|
|
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)
|
rs587780193
|
|
NM_007194.4(CHEK2):c.974A>C (p.Lys325Thr)
|
|
|
NM_007194.4(CHEK2):c.974A>G (p.Lys325Arg)
|
rs767656411
|
|
NM_007194.4(CHEK2):c.974del (p.Lys325fs)
|
rs1555915409
|
|
NM_007194.4(CHEK2):c.975G>A (p.Lys325=)
|
rs2145842576
|
|
NM_007194.4(CHEK2):c.975G>T (p.Lys325Asn)
|
|
|
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
|
|
|
NM_007194.4(CHEK2):c.976C>G (p.Leu326Val)
|
rs2052760821
|
|
NM_007194.4(CHEK2):c.976C>T (p.Leu326Phe)
|
|
|
NM_007194.4(CHEK2):c.977T>C (p.Leu326Pro)
|
rs2145842493
|
|
NM_007194.4(CHEK2):c.978C>T (p.Leu326=)
|
rs1057521868
|
|
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)
|
rs1555915392
|
|
NM_007194.4(CHEK2):c.981T>C (p.Tyr327=)
|
rs1601738446
|
|
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu)
|
rs2052760168
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
|
|
|
NM_007194.4(CHEK2):c.986A>C (p.Tyr329Ser)
|
rs774685647
|
|
NM_007194.4(CHEK2):c.986A>G (p.Tyr329Cys)
|
rs774685647
|
|
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.989A>G (p.Gln330Arg)
|
rs894075046
|
|
NM_007194.4(CHEK2):c.989del (p.Gln330fs)
|
rs2052759328
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007194.4(CHEK2):c.990G>C (p.Gln330His)
|
|
|
NM_007194.4(CHEK2):c.990G>T (p.Gln330His)
|
rs9625537
|
|
NM_007194.4(CHEK2):c.990del (p.Met331fs)
|
rs1601738338
|
|
NM_007194.4(CHEK2):c.991A>G (p.Met331Val)
|
rs1555915357
|
|
NM_007194.4(CHEK2):c.992T>A (p.Met331Lys)
|
rs1555915352
|
|
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr)
|
rs1555915352
|
|
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
|
|
|
NM_007194.4(CHEK2):c.993G>A (p.Met331Ile)
|
rs2052758465
|
|
NM_007194.4(CHEK2):c.993G>C (p.Met331Ile)
|
rs2052758465
|
|
NM_007194.4(CHEK2):c.993del (p.Met331fs)
|
|
|
NM_007194.4(CHEK2):c.994C>A (p.Leu332Ile)
|
rs1555915348
|
|
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val)
|
rs1555915348
|
|
NM_007194.4(CHEK2):c.994C>T (p.Leu332Phe)
|
rs1555915348
|
|
NM_007194.4(CHEK2):c.995T>A (p.Leu332His)
|
rs1555915337
|
|
NM_007194.4(CHEK2):c.995T>C (p.Leu332Pro)
|
rs1555915337
|
|
NM_007194.4(CHEK2):c.995T>G (p.Leu332Arg)
|
rs1555915337
|
|
NM_007194.4(CHEK2):c.995del (p.Leu332fs)
|
rs2052758032
|
|
NM_007194.4(CHEK2):c.996C>G (p.Leu332=)
|
|
|
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs)
|
rs2145841388
|
|
NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter)
|
rs2145841647
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|
NM_007194.4(CHEK2):c.99del (p.Gln34fs)
|
|
|
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
|
|
|
Single allele
|
|
|