ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic for breast disorder

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 670
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
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.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 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.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) rs775167943 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.622del (p.Asp208fs) rs773955899 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NC_000022.10:g.(?_29081001)_29140000del
NC_000022.10:g.(?_29083885)_(29090115_?)del
NC_000022.10:g.(?_29083885)_(29095935_?)del
NC_000022.10:g.(?_29083885)_(29099564_?)del
NC_000022.10:g.(?_29083885)_(29108015_?)del
NC_000022.10:g.(?_29083885)_(29130709_?)del
NC_000022.10:g.(?_29090010)_(29115483_?)del
NC_000022.10:g.(?_29090010)_(29130713_?)del
NC_000022.10:g.(?_29091105)_(29091240_?)del
NC_000022.10:g.(?_29092879)_(29095935_?)del
NC_000022.10:g.(?_29095820)_(29130715_?)del
NC_000022.10:g.(?_29099483)_(29108015_?)del
NC_000022.10:g.(?_29105984)_(29115483_?)del
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.(?_29121102)_(29125325_?)del
NC_000022.10:g.(?_29130385)_(29130715_?)del
NC_000022.11:g.(?_28687743)_(28725367_?)del
NC_000022.11:g.(?_28687887)_(28696997_?)del
NC_000022.11:g.(?_28687887)_(28699947_?)del
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)_(28696993_?)del
NC_000022.11:g.(?_28687891)_(28703572_?)del
NC_000022.11:g.(?_28687891)_(28734727_?)del
NC_000022.11:g.(?_28687897)_(28696997_?)del
NC_000022.11:g.(?_28687897)_(28725377_?)del
NC_000022.11:g.(?_28694022)_(28694127_?)del
NC_000022.11:g.(?_28694022)_(28699947_?)del
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.(?_28699832)_(28699943_?)del
NC_000022.11:g.(?_28703495)_(28703576_?)del
NC_000022.11:g.(?_28703505)_(28703566_?)del
NC_000022.11:g.(?_28709996)_(28712027_?)del
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)_(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.909-?_1095+?del
NM_007194.3(CHEK2):c.909delG rs1057517596
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter) rs2145841361
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) rs1569120831
NM_007194.4(CHEK2):c.1009-100_1095+3del rs2145815434
NM_007194.4(CHEK2):c.1009-1264C>G
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.1014_1036dup (p.Arg346fs) rs2145817523
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs) rs1601727263
NM_007194.4(CHEK2):c.1022del (p.Asn341fs) rs1569116316
NM_007194.4(CHEK2):c.1030del (p.Ile344fs) rs2145817725
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
NM_007194.4(CHEK2):c.1039_1043del (p.Asp347fs)
NM_007194.4(CHEK2):c.1041del (p.Asp347_Leu348insTer)
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) rs878854908
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) rs2145817185
NM_007194.4(CHEK2):c.1048_1049insA (p.Pro350fs)
NM_007194.4(CHEK2):c.1049del (p.Pro350fs) rs1601727022
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
NM_007194.4(CHEK2):c.1050del (p.Glu351fs) rs2052610542
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter) rs2145816590
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) rs1555914279
NM_007194.4(CHEK2):c.1065del (p.Ser356fs)
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.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
NM_007194.4(CHEK2):c.1075del (p.Glu359fs)
NM_007194.4(CHEK2):c.1077del (p.Glu360fs) rs2145816035
NM_007194.4(CHEK2):c.107del (p.Gln36fs)
NM_007194.4(CHEK2):c.1085del (p.Cys362fs)
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) rs1064793566
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs) rs2145815556
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs) rs2145806928
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs) rs1555932583
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1116del (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs) rs2052564279
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs) rs2145806264
NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)
NM_007194.4(CHEK2):c.1127del (p.Gly376fs)
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) rs1601723175
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter) rs2145805017
NM_007194.4(CHEK2):c.1159_1160delinsG (p.Thr387fs)
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1170del (p.Leu391fs) rs2145804427
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) rs587780169
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) rs1569113653
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs) rs1569171106
NM_007194.4(CHEK2):c.1192dup (p.Ser398fs)
NM_007194.4(CHEK2):c.1193_1197del (p.Ser398fs)
NM_007194.4(CHEK2):c.1193del (p.Ser398fs) rs2052556835
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) rs876658302
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) rs876658302
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) rs2145803112
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.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.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter) rs773380144
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) rs1064796572
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
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.123del (p.Ser42fs)
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) rs878854913
NM_007194.4(CHEK2):c.1246del (p.Ile416fs) rs2145801378
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs) rs2145801350
NM_007194.4(CHEK2):c.1248del (p.Leu417fs) rs2145801216
NM_007194.4(CHEK2):c.1250_1258delinsATCTTTTATCG (p.Leu417fs)
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
NM_007194.4(CHEK2):c.1254_1255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAGTTATTCTTTTT (p.Ile419delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1258del (p.Cys420fs)
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.125del (p.Ser42fs)
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs) rs2145796040
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
NM_007194.4(CHEK2):c.126_127insTG (p.Thr43Ter)
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>G (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
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.129del (p.Ser44fs)
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) rs2145794764
NM_007194.4(CHEK2):c.1312dup (p.Asp438fs)
NM_007194.4(CHEK2):c.1314del (p.Gln439fs) rs2145794535
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1324del (p.Ser442fs) rs2145794195
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
NM_007194.4(CHEK2):c.1332del (p.Lys444fs) rs2145794013
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.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.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.133del (p.Thr45fs) rs1555932518
NM_007194.4(CHEK2):c.1341del (p.Phe447fs) rs2145793726
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs) rs2145793644
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) rs1601719328
NM_007194.4(CHEK2):c.1347del (p.Glu450fs) rs1601719287
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter) rs1555913429
NM_007194.4(CHEK2):c.1348del (p.Glu450fs)
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
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.1360_1361del (p.Glu454fs) rs2052514918
NM_007194.4(CHEK2):c.1360_1361insCA (p.Glu454fs) rs2145793110
NM_007194.4(CHEK2):c.1362del (p.Val455fs) rs2145793028
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs) rs2145792978
NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter) rs876659827
NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) rs2052513579
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
NM_007194.4(CHEK2):c.1378del (p.Leu460fs)
NM_007194.4(CHEK2):c.1379del (p.Leu460fs) rs2145786618
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
NM_007194.4(CHEK2):c.1398del (p.Leu466fs)
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) rs1555913161
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) rs2052472184
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
NM_007194.4(CHEK2):c.1420del (p.Arg474fs) rs2145785415
NM_007194.4(CHEK2):c.1430del (p.Thr477fs) rs2052468526
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter) rs2145784977
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
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.1448dup (p.His483fs)
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) rs2145784297
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) rs1199577809
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.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) rs2052247122
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
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.1500_1501delinsAT (p.Glu501Ter)
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs) rs1555932481
NM_007194.4(CHEK2):c.152del (p.Gln51fs)
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1542+1G>A
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.154del (p.Ser52fs)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.161_164del (p.His54fs) rs1569170839
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
NM_007194.4(CHEK2):c.179_180del (p.Leu60fs)
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
NM_007194.4(CHEK2):c.17_18insGGGA (p.Asp6fs)
NM_007194.4(CHEK2):c.181del (p.Ser61fs) rs1601852451
NM_007194.4(CHEK2):c.183del (p.Ser62fs) rs2054322279
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer) rs2054322016
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer) rs2146148231
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs) rs2054321037
NM_007194.4(CHEK2):c.199del (p.Ser67fs) rs2054320626
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) rs878854917
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs) rs2054319272
NM_007194.4(CHEK2):c.214_223del (p.Tyr72fs)
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.222del (p.Pro75fs) rs2146147030
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
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.241G>T (p.Glu81Ter)
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
NM_007194.4(CHEK2):c.252del (p.Glu84fs) rs1601851875
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs) rs2054315696
NM_007194.4(CHEK2):c.269del (p.Pro90fs) rs1555932231
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
NM_007194.4(CHEK2):c.271_272dup (p.Trp93fs)
NM_007194.4(CHEK2):c.271del (p.Ala91fs)
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
NM_007194.4(CHEK2):c.276del (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) rs786203889
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)
NM_007194.4(CHEK2):c.288_289dup (p.Trp97fs)
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.295del (p.Leu99fs) rs1601851248
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) rs2054311767
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) rs876659833
NM_007194.4(CHEK2):c.305del (p.Gly102fs) rs2054311111
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.320-3970_454del
NM_007194.4(CHEK2):c.320-3970_455del
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) rs2053967484
NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)
NM_007194.4(CHEK2):c.326_327del (p.Val109fs) rs1555927398
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs) rs2146155758
NM_007194.4(CHEK2):c.335_341del (p.Asn112fs)
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
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.339del (p.Trp114fs)
NM_007194.4(CHEK2):c.33del (p.Gln11fs) rs2146155911
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007194.4(CHEK2):c.349del (p.Arg117fs) rs2146071079
NM_007194.4(CHEK2):c.353del (p.Asp118fs)
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
NM_007194.4(CHEK2):c.359del (p.Ser120fs) rs2146070648
NM_007194.4(CHEK2):c.360del (p.Cys121fs) rs1601825829
NM_007194.4(CHEK2):c.361del (p.Cys121fs) rs2146070522
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.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.375del (p.Phe125fs)
NM_007194.4(CHEK2):c.383del (p.Pro128fs) rs1569158776
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) rs1275395933
NM_007194.4(CHEK2):c.393_397del (p.Lys131fs)
NM_007194.4(CHEK2):c.394del (p.Arg132fs)
NM_007194.4(CHEK2):c.397del (p.Thr133fs) rs2053960596
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
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.402delinsAA (p.Asp134fs)
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
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.409_427del (p.Arg137fs)
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
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.417_418dup (p.Ser140fs)
NM_007194.4(CHEK2):c.417del (p.Thr138_Tyr139insTer)
NM_007194.4(CHEK2):c.41del (p.Gly14fs) rs2146155398
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
NM_007194.4(CHEK2):c.426dup (p.His143fs)
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433del (p.Arg145fs) rs1555927137
NM_007194.4(CHEK2):c.440del (p.Phe147fs)
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.448_461del (p.Val150fs) rs2146061709
NM_007194.4(CHEK2):c.448del (p.Val150fs) rs1555927038
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.452del (p.Gly151fs) rs2053949167
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) rs2146060468
NM_007194.4(CHEK2):c.461del (p.Asn154fs)
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
NM_007194.4(CHEK2):c.464_465del (p.Ser155fs)
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.469del (p.Ile157fs) rs2146061284
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs) rs2146154211
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
NM_007194.4(CHEK2):c.471del (p.Ile157fs) rs2146061160
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) rs864622453
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) rs2146060162
NM_007194.4(CHEK2):c.502del (p.Thr168fs) rs2146059921
NM_007194.4(CHEK2):c.504del (p.Phe169fs) rs2146059828
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
NM_007194.4(CHEK2):c.50_53dup (p.Ser19fs)
NM_007194.4(CHEK2):c.512del (p.Asn171fs)
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) rs1601823546
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
NM_007194.4(CHEK2):c.518_519del (p.Glu173fs)
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.526_530del (p.Gly176fs)
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.531del (p.Gly178fs)
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
NM_007194.4(CHEK2):c.537del (p.Lys179fs) rs2053940893
NM_007194.4(CHEK2):c.538del (p.Arg180fs)
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs) rs2053939874
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.548del (p.Pro182_Leu183insTer) rs2146058204
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
NM_007194.4(CHEK2):c.557del (p.Asn186fs) rs2146057730
NM_007194.4(CHEK2):c.55del (p.Ser19fs) rs2146154644
NM_007194.4(CHEK2):c.561del (p.Glu188fs)
NM_007194.4(CHEK2):c.568_569delinsTG (p.Ala190Ter)
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) rs1555932877
NM_007194.4(CHEK2):c.56dup (p.Gln20fs)
NM_007194.4(CHEK2):c.571del (p.Leu191fs)
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.580dup (p.Ser194fs)
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_007194.4(CHEK2):c.600del (p.Phe202fs) rs1555924538
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.607del (p.Asp203fs)
NM_007194.4(CHEK2):c.614_615del (p.Thr205fs)
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.621del (p.Asp207fs) rs1569150017
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs)
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
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.636T>A (p.Tyr212Ter)
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter) rs2053693149
NM_007194.4(CHEK2):c.644del (p.Ala215fs) rs2146006030
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.64del (p.His22fs) rs2054335480
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.657del (p.Glu219fs)
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs) rs2146005603
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs) rs2053691104
NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) rs2146005334
NM_007194.4(CHEK2):c.663del (p.Met222fs)
NM_007194.4(CHEK2):c.664_676del (p.Met222fs) rs2146004773
NM_007194.4(CHEK2):c.664del (p.Met222fs) rs2146005256
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.669_679del (p.Thr225fs)
NM_007194.4(CHEK2):c.673del (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
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.6_10del (p.Arg3fs) rs2146157133
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) rs1601783879
NM_007194.4(CHEK2):c.706del (p.Leu236fs) rs1555921290
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.716del (p.Glu239fs)
NM_007194.4(CHEK2):c.718del (p.Arg240fs) rs2145951649
NM_007194.4(CHEK2):c.720_736del (p.Arg240fs)
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.725del (p.Thr242fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.728_729del (p.Thr242_Cys243insTer)
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter) rs2145951132
NM_007194.4(CHEK2):c.72_81del (p.Val25fs)
NM_007194.4(CHEK2):c.72dup (p.Val25fs)
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.737_782dup (p.Arg262fs) rs2145949099
NM_007194.4(CHEK2):c.739_751del (p.Ala247fs)
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
NM_007194.4(CHEK2):c.743dup (p.Ile250fs) rs2145950548
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
NM_007194.4(CHEK2):c.750del (p.Ile251fs) rs2145950251
NM_007194.4(CHEK2):c.756del (p.Ser252fs)
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.760del (p.Arg254fs) rs2145949827
NM_007194.4(CHEK2):c.762del (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter) rs2053408810
NM_007194.4(CHEK2):c.768dup (p.Ala257fs) rs2145949535
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs) rs2145949378
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
NM_007194.4(CHEK2):c.776del (p.Gly259fs) rs2053407842
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) rs2053407842
NM_007194.4(CHEK2):c.777_780dup (p.Ala261fs)
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) rs1060502710
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
NM_007194.4(CHEK2):c.779del (p.Gly259_Ser260insTer) rs2145949157
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs) rs1060502687
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter) rs730881686
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) rs2145948828
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs) rs1601853585
NM_007194.4(CHEK2):c.793-110_846+2del rs2145932387
NM_007194.4(CHEK2):c.793-15T>G
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.79del (p.Gln27fs) rs2146153237
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs) rs2053336290
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs) rs2053335818
NM_007194.4(CHEK2):c.808del (p.Val270fs)
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.820dup (p.Ile274fs)
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) rs749963436
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
NM_007194.4(CHEK2):c.82del (p.Ser28fs) rs2146153089
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter) rs1555920150
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.842dup (p.Asn281fs) rs2053330207
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-1002_908+1031del
NM_007194.4(CHEK2):c.847-1G>A rs878854926
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.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
NM_007194.4(CHEK2):c.869del (p.Asn290fs) rs1422634212
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs) rs2052980434
NM_007194.4(CHEK2):c.870del (p.Phe292fs) rs1555916987
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.877del (p.Asp293fs)
NM_007194.4(CHEK2):c.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) rs2145877300
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.897del (p.Ile299fs)
NM_007194.4(CHEK2):c.898del (p.Val300fs)
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
NM_007194.4(CHEK2):c.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908+1540_1095+330del
NM_007194.4(CHEK2):c.908+715_1095+298del
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.909-49_1095+51del
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.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.921del (p.Glu308fs)
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
NM_007194.4(CHEK2):c.938del (p.Val313fs) rs2052766776
NM_007194.4(CHEK2):c.945del (p.Asn316fs) rs2052765649
NM_007194.4(CHEK2):c.948del (p.Asn316fs) rs2052765413
NM_007194.4(CHEK2):c.94del (p.Ser32fs) rs2146152456
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.956del (p.Leu319fs)
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.963del (p.Ala322fs) rs2052762437
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs) rs2145842905
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172
NM_007194.4(CHEK2):c.974del (p.Lys325fs) rs1555915409
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) rs1555915392
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
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>T (p.Gln330Ter) rs768973809
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.990del (p.Met331fs) rs1601738338
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
NM_007194.4(CHEK2):c.993del (p.Met331fs)
NM_007194.4(CHEK2):c.995del (p.Leu332fs) rs2052758032
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.99del (p.Gln34fs)
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
Single allele

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