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)
|
|
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NM_007194.4(CHEK2):c.897del (p.Ile299fs)
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NM_007194.4(CHEK2):c.898del (p.Val300fs)
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NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
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rs886039739
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NM_007194.4(CHEK2):c.902del (p.Leu301fs)
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rs748005072
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NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
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NM_007194.4(CHEK2):c.906del (p.Glu302fs)
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rs2052974883
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NM_007194.4(CHEK2):c.908+1540_1095+330del
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NM_007194.4(CHEK2):c.908+715_1095+298del
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NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
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rs1233699096
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NM_007194.4(CHEK2):c.909-49_1095+51del
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NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
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rs1555915533
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NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
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rs786203053
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NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
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NM_007194.4(CHEK2):c.919_940del (p.Gly307fs)
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rs2145844027
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NM_007194.4(CHEK2):c.920del (p.Gly307fs)
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rs786203053
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NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
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rs786203053
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NM_007194.4(CHEK2):c.921del (p.Glu308fs)
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|
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NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
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NM_007194.4(CHEK2):c.926dup (p.Phe310fs)
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NM_007194.4(CHEK2):c.938del (p.Val313fs)
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rs2052766776
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NM_007194.4(CHEK2):c.945del (p.Asn316fs)
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rs2052765649
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NM_007194.4(CHEK2):c.948del (p.Asn316fs)
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rs2052765413
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NM_007194.4(CHEK2):c.94del (p.Ser32fs)
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rs2146152456
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NM_007194.4(CHEK2):c.952del (p.Arg318fs)
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rs749153163
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NM_007194.4(CHEK2):c.956del (p.Leu319fs)
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|
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NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
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rs1555915433
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NM_007194.4(CHEK2):c.963del (p.Ala322fs)
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rs2052762437
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NM_007194.4(CHEK2):c.968_969del (p.Thr323fs)
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rs2145842905
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NM_007194.4(CHEK2):c.971del (p.Cys324fs)
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rs1569121172
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NM_007194.4(CHEK2):c.974del (p.Lys325fs)
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rs1555915409
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NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
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|
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NM_007194.4(CHEK2):c.979dup (p.Tyr327fs)
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rs1555915392
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NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
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rs1569121048
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NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
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|
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NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
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|
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NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)
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|
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NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)
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|
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NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
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rs768973809
|
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NM_007194.4(CHEK2):c.989del (p.Gln330fs)
|
rs2052759328
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NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
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NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007194.4(CHEK2):c.990del (p.Met331fs)
|
rs1601738338
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NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
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|
|
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
|
|
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Single allele
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