| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695735_28695760del | CA2695230580 | CHEK2 | c.1009-516_1009-491del (n.1009-516_1009-491del) c.1010_1035del (p.Tyr337PhefsTer10) c.1211_1236del (p.Tyr404PhefsTer10) c.548_573del (p.Tyr183PhefsTer10) c.551_576del (p.Tyr184PhefsTer10) n.763_788del c.1124_1149del (p.Tyr375PhefsTer10) c.1340_1365del (p.Tyr447PhefsTer10) c.938_963del (p.Tyr313PhefsTer10) c.*701_*726del (n.*701_*726del) c.1120_1145del (n.1120_1145del) c.1149_1174del (n.1149_1174del) c.442_467del c.1101_1126del (n.1101_1126del) c.263+4080_263+4105del c.731_756del (p.Tyr244PhefsTer10) c.668_693del (p.Tyr223PhefsTer10) c.1370_1395del (p.Tyr457PhefsTer10) c.1283_1308del (p.Tyr428PhefsTer10) c.1139_1164del (p.Tyr380PhefsTer10) c.1040_1065del (p.Tyr347PhefsTer10) n.1370_1395del c.764_789del (p.Tyr255PhefsTer10) c.1334_1359del (p.Tyr445PhefsTer10) c.1241_1266del (p.Tyr414PhefsTer10) c.1154_1179del (p.Tyr385PhefsTer10) n.1381_1406del | |
| 22 | g.28695734_28695758del | CA2740090120 | CHEK2 | c.1009-516_1009-492del (n.1009-516_1009-492del) c.1010_1034del (p.Tyr337PhefsTer2) c.1211_1235del (p.Tyr404PhefsTer2) c.548_572del (p.Tyr183PhefsTer2) c.551_575del (p.Tyr184PhefsTer2) n.763_787del c.1124_1148del (p.Tyr375PhefsTer2) c.1340_1364del (p.Tyr447PhefsTer2) c.938_962del (p.Tyr313PhefsTer2) c.*701_*725del (n.*701_*725del) c.1120_1144del (n.1120_1144del) c.1149_1173del (n.1149_1173del) c.442_466del c.1101_1125del (n.1101_1125del) c.263+4080_263+4104del c.731_755del (p.Tyr244PhefsTer2) c.668_692del (p.Tyr223PhefsTer2) c.1370_1394del (p.Tyr457PhefsTer2) c.1283_1307del (p.Tyr428PhefsTer2) c.1139_1163del (p.Tyr380PhefsTer2) c.1040_1064del (p.Tyr347PhefsTer2) n.1370_1394del c.764_788del (p.Tyr255PhefsTer2) c.1334_1358del (p.Tyr445PhefsTer2) c.1241_1265del (p.Tyr414PhefsTer2) c.1154_1178del (p.Tyr385PhefsTer2) n.1381_1405del | |
| 22 | g.28695735_28695760delinsTCCAGCAGTCCACAGCACGGTTATAC | CA2400238250 | CHEK2 | c.1009-518_1009-493delinsGTATAACCGTGCTGTGGACTGCTGGA (n.1009-518_1009-493delinsGTATAACCGTGCTGTGGACTGCTGGA) c.1008_1033delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly336=) c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly403=) c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly182=) c.549_574delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly183=) n.761_786delinsGTATAACCGTGCTGTGGACTGCTGGA c.1122_1147delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly374=) c.1338_1363delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly446=) c.936_961delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly312=) c.*699_*724delinsGTATAACCGTGCTGTGGACTGCTGGA (n.*699_*724delinsGTATAACCGTGCTGTGGACTGCTGGA) c.1118_1143delinsGTATAACCGTGCTGTGGACTGCTGGA (n.1118_1143delinsGTATAACCGTGCTGTGGACTGCTGGA) c.1147_1172delinsGTATAACCGTGCTGTGGACTGCTGGA (n.1147_1172delinsGTATAACCGTGCTGTGGACTGCTGGA) c.440_465delinsGTATAACCGTGCTGTGGACTGCTGGA c.1099_1124delinsGTATAACCGTGCTGTGGACTGCTGGA (n.1099_1124delinsGTATAACCGTGCTGTGGACTGCTGGA) c.263+4078_263+4103delinsGTATAACCGTGCTGTGGACTGCTGGA c.729_754delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly243=) c.666_691delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly222=) c.1368_1393delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly456=) c.1281_1306delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly427=) c.1137_1162delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly379=) c.1038_1063delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly346=) n.1368_1393delinsGTATAACCGTGCTGTGGACTGCTGGA c.762_787delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly254=) c.1332_1357delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly444=) c.1239_1264delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly413=) c.1152_1177delinsGTATAACCGTGCTGTGGACTGCTGGA (p.Gly384=) n.1379_1404delinsGTATAACCGTGCTGTGGACTGCTGGA | |
| 22 | g.28695746_28695770dup | CA2573157953 | CHEK2 | c.1009-518_1009-494dup (n.1009-518_1009-494dup) c.1008_1032dup (p.Ser345ValfsTer2) c.1209_1233dup (p.Ser412ValfsTer2) c.546_570dup (p.Ser191ValfsTer2) c.549_573dup (p.Ser192ValfsTer2) n.761_785dup c.1122_1146dup (p.Ser383ValfsTer2) c.1338_1362dup (p.Ser455ValfsTer2) c.936_960dup (p.Ser321ValfsTer2) c.*699_*723dup (n.*699_*723dup) c.1118_1142dup (n.1118_1142dup) c.1147_1171dup (n.1147_1171dup) c.440_464dup c.1099_1123dup (n.1099_1123dup) c.263+4078_263+4102dup c.729_753dup (p.Ser252ValfsTer2) c.666_690dup (p.Ser231ValfsTer2) c.1368_1392dup (p.Ser465ValfsTer2) c.1281_1305dup (p.Ser436ValfsTer2) c.1137_1161dup (p.Ser388ValfsTer2) c.1038_1062dup (p.Ser355ValfsTer2) n.1368_1392dup c.762_786dup (p.Ser263ValfsTer2) c.1332_1356dup (p.Ser453ValfsTer2) c.1239_1263dup (p.Ser422ValfsTer2) c.1152_1176dup (p.Ser393ValfsTer2) n.1379_1403dup | ClinVar dbSNP |
| 22 | g.28695746_28695770del | CA658684243 | CHEK2 | c.1009-518_1009-494del (n.1009-518_1009-494del) c.1008_1032del (p.Tyr337ValfsTer2) c.1209_1233del (p.Tyr404ValfsTer2) c.546_570del (p.Tyr183ValfsTer2) c.549_573del (p.Tyr184ValfsTer2) n.761_785del c.1122_1146del (p.Tyr375ValfsTer2) c.1338_1362del (p.Tyr447ValfsTer2) c.936_960del (p.Tyr313ValfsTer2) c.*699_*723del (n.*699_*723del) c.1118_1142del (n.1118_1142del) c.1147_1171del (n.1147_1171del) c.440_464del c.1099_1123del (n.1099_1123del) c.263+4078_263+4102del c.729_753del (p.Tyr244ValfsTer2) c.666_690del (p.Tyr223ValfsTer2) c.1368_1392del (p.Tyr457ValfsTer2) c.1281_1305del (p.Tyr428ValfsTer2) c.1137_1161del (p.Tyr380ValfsTer2) c.1038_1062del (p.Tyr347ValfsTer2) n.1368_1392del c.762_786del (p.Tyr255ValfsTer2) c.1332_1356del (p.Tyr445ValfsTer2) c.1239_1263del (p.Tyr414ValfsTer2) c.1152_1176del (p.Tyr385ValfsTer2) n.1379_1403del | ClinVar dbSNP gnomAD v4 |
| 22 | g.28695749_28695759delinsGCACGGTTATA | CA2400238262 | CHEK2 | c.1009-517_1009-507delinsTATAACCGTGC (n.1009-517_1009-507delinsTATAACCGTGC) c.1009_1019delinsTATAACCGTGC (p.Tyr337=) c.1210_1220delinsTATAACCGTGC (p.Tyr404=) c.547_557delinsTATAACCGTGC (p.Tyr183=) c.550_560delinsTATAACCGTGC (p.Tyr184=) n.762_772delinsTATAACCGTGC c.1123_1133delinsTATAACCGTGC (p.Tyr375=) c.1339_1349delinsTATAACCGTGC (p.Tyr447=) c.937_947delinsTATAACCGTGC (p.Tyr313=) c.*700_*710delinsTATAACCGTGC (n.*700_*710delinsTATAACCGTGC) c.1119_1129delinsTATAACCGTGC (n.1119_1129delinsTATAACCGTGC) c.1148_1158delinsTATAACCGTGC (n.1148_1158delinsTATAACCGTGC) c.441_451delinsTATAACCGTGC c.1100_1110delinsTATAACCGTGC (n.1100_1110delinsTATAACCGTGC) c.263+4079_263+4089delinsTATAACCGTGC c.730_740delinsTATAACCGTGC (p.Tyr244=) c.667_677delinsTATAACCGTGC (p.Tyr223=) c.1369_1379delinsTATAACCGTGC (p.Tyr457=) c.1282_1292delinsTATAACCGTGC (p.Tyr428=) c.1138_1148delinsTATAACCGTGC (p.Tyr380=) c.1039_1049delinsTATAACCGTGC (p.Tyr347=) n.1369_1379delinsTATAACCGTGC c.763_773delinsTATAACCGTGC (p.Tyr255=) c.1333_1343delinsTATAACCGTGC (p.Tyr445=) c.1240_1250delinsTATAACCGTGC (p.Tyr414=) c.1153_1163delinsTATAACCGTGC (p.Tyr385=) n.1380_1390delinsTATAACCGTGC | |
| 22 | g.28695751_28695760del | CA1139667018 | CHEK2 | c.1009-517_1009-508del (n.1009-517_1009-508del) c.1009_1018del (p.Tyr337LeufsTer7) c.1210_1219del (p.Tyr404LeufsTer7) c.547_556del (p.Tyr183LeufsTer7) c.550_559del (p.Tyr184LeufsTer7) n.762_771del c.1123_1132del (p.Tyr375LeufsTer7) c.1339_1348del (p.Tyr447LeufsTer7) c.937_946del (p.Tyr313LeufsTer7) c.*700_*709del (n.*700_*709del) c.1119_1128del (n.1119_1128del) c.1148_1157del (n.1148_1157del) c.441_450del c.1100_1109del (n.1100_1109del) c.263+4079_263+4088del c.730_739del (p.Tyr244LeufsTer7) c.667_676del (p.Tyr223LeufsTer7) c.1369_1378del (p.Tyr457LeufsTer7) c.1282_1291del (p.Tyr428LeufsTer7) c.1138_1147del (p.Tyr380LeufsTer7) c.1039_1048del (p.Tyr347LeufsTer7) n.1369_1378del c.763_772del (p.Tyr255LeufsTer7) c.1333_1342del (p.Tyr445LeufsTer7) c.1240_1249del (p.Tyr414LeufsTer7) c.1153_1162del (p.Tyr385LeufsTer7) n.1380_1389del | ClinVar dbSNP |
| 22 | g.28695753_28695759dup | CA2580099490 | CHEK2 | c.1009-517_1009-511dup (n.1009-517_1009-511dup) c.1009_1015dup (p.Arg339LeufsTer2) c.1210_1216dup (p.Arg406LeufsTer2) c.547_553dup (p.Arg185LeufsTer2) c.550_556dup (p.Arg186LeufsTer2) n.762_768dup c.1123_1129dup (p.Arg377LeufsTer2) c.1339_1345dup (p.Arg449LeufsTer2) c.937_943dup (p.Arg315LeufsTer2) c.*700_*706dup (n.*700_*706dup) c.1119_1125dup (n.1119_1125dup) c.1148_1154dup (n.1148_1154dup) c.441_447dup c.1100_1106dup (n.1100_1106dup) c.263+4079_263+4085dup c.730_736dup (p.Arg246LeufsTer2) c.667_673dup (p.Arg225LeufsTer2) c.1369_1375dup (p.Arg459LeufsTer2) c.1282_1288dup (p.Arg430LeufsTer2) c.1138_1144dup (p.Arg382LeufsTer2) c.1039_1045dup (p.Arg349LeufsTer2) n.1369_1375dup c.763_769dup (p.Arg257LeufsTer2) c.1333_1339dup (p.Arg447LeufsTer2) c.1240_1246dup (p.Arg416LeufsTer2) c.1153_1159dup (p.Arg387LeufsTer2) n.1380_1386dup | ClinVar |
| 22 | g.28695758T>A | CA411096733 | CHEK2 | c.1009-516A>T (n.1009-516A>T) c.1010A>T (p.Tyr337Phe) c.1211A>T (p.Tyr404Phe) c.548A>T (p.Tyr183Phe) c.551A>T (p.Tyr184Phe) n.763A>T c.1124A>T (p.Tyr375Phe) c.1340A>T (p.Tyr447Phe) c.938A>T (p.Tyr313Phe) c.*701A>T (n.*701A>T) c.1120A>T (n.1120A>T) c.1149A>T (n.1149A>T) c.442A>T c.1101A>T (n.1101A>T) c.263+4080A>T c.731A>T (p.Tyr244Phe) c.668A>T (p.Tyr223Phe) c.1370A>T (p.Tyr457Phe) c.1283A>T (p.Tyr428Phe) c.1139A>T (p.Tyr380Phe) c.1040A>T (p.Tyr347Phe) n.1370A>T c.764A>T (p.Tyr255Phe) c.1334A>T (p.Tyr445Phe) c.1241A>T (p.Tyr414Phe) c.1154A>T (p.Tyr385Phe) n.1381A>T | ClinVar dbSNP |
| 22 | g.28695758T>C | CA16616317 | CHEK2 | c.1009-516A>G (n.1009-516A>G) c.1010A>G (p.Tyr337Cys) c.1211A>G (p.Tyr404Cys) c.548A>G (p.Tyr183Cys) c.551A>G (p.Tyr184Cys) n.763A>G c.1124A>G (p.Tyr375Cys) c.1340A>G (p.Tyr447Cys) c.938A>G (p.Tyr313Cys) c.*701A>G (n.*701A>G) c.1120A>G (n.1120A>G) c.1149A>G (n.1149A>G) c.442A>G c.1101A>G (n.1101A>G) c.263+4080A>G c.731A>G (p.Tyr244Cys) c.668A>G (p.Tyr223Cys) c.1370A>G (p.Tyr457Cys) c.1283A>G (p.Tyr428Cys) c.1139A>G (p.Tyr380Cys) c.1040A>G (p.Tyr347Cys) n.1370A>G c.764A>G (p.Tyr255Cys) c.1334A>G (p.Tyr445Cys) c.1241A>G (p.Tyr414Cys) c.1154A>G (p.Tyr385Cys) n.1381A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.28695758T>G | CA411096735 | CHEK2 | c.1009-516A>C (n.1009-516A>C) c.1010A>C (p.Tyr337Ser) c.1211A>C (p.Tyr404Ser) c.548A>C (p.Tyr183Ser) c.551A>C (p.Tyr184Ser) n.763A>C c.1124A>C (p.Tyr375Ser) c.1340A>C (p.Tyr447Ser) c.938A>C (p.Tyr313Ser) c.*701A>C (n.*701A>C) c.1120A>C (n.1120A>C) c.1149A>C (n.1149A>C) c.442A>C c.1101A>C (n.1101A>C) c.263+4080A>C c.731A>C (p.Tyr244Ser) c.668A>C (p.Tyr223Ser) c.1370A>C (p.Tyr457Ser) c.1283A>C (p.Tyr428Ser) c.1139A>C (p.Tyr380Ser) c.1040A>C (p.Tyr347Ser) n.1370A>C c.764A>C (p.Tyr255Ser) c.1334A>C (p.Tyr445Ser) c.1241A>C (p.Tyr414Ser) c.1154A>C (p.Tyr385Ser) n.1381A>C | dbSNP gnomAD v4 |
| 22 | g.28695758T= | CA2400238270 | CHEK2 | c.1009-516A= (n.1009-516A=) c.1010A= (p.Tyr337=) c.1211A= (p.Tyr404=) c.548A= (p.Tyr183=) c.551A= (p.Tyr184=) n.763A= c.1124A= (p.Tyr375=) c.1340A= (p.Tyr447=) c.938A= (p.Tyr313=) c.*701A= (n.*701A=) c.1120A= (n.1120A=) c.1149A= (n.1149A=) c.442A= c.1101A= (n.1101A=) c.263+4080A= c.731A= (p.Tyr244=) c.668A= (p.Tyr223=) c.1370A= (p.Tyr457=) c.1283A= (p.Tyr428=) c.1139A= (p.Tyr380=) c.1040A= (p.Tyr347=) n.1370A= c.764A= (p.Tyr255=) c.1334A= (p.Tyr445=) c.1241A= (p.Tyr414=) c.1154A= (p.Tyr385=) n.1381A= | |
| 22 | g.28695759del | CA2697552655 | CHEK2 | c.1009-517del (n.1009-517del) c.1009del (p.Tyr337IlefsTer10) c.1210del (p.Tyr404IlefsTer10) c.547del (p.Tyr183IlefsTer10) c.550del (p.Tyr184IlefsTer10) n.762del c.1123del (p.Tyr375IlefsTer10) c.1339del (p.Tyr447IlefsTer10) c.937del (p.Tyr313IlefsTer10) c.*700del (n.*700del) c.1119del (n.1119del) c.1148del (n.1148del) c.441del c.1100del (n.1100del) c.263+4079del c.730del (p.Tyr244IlefsTer10) c.667del (p.Tyr223IlefsTer10) c.1369del (p.Tyr457IlefsTer10) c.1282del (p.Tyr428IlefsTer10) c.1138del (p.Tyr380IlefsTer10) c.1039del (p.Tyr347IlefsTer10) n.1369del c.763del (p.Tyr255IlefsTer10) c.1333del (p.Tyr445IlefsTer10) c.1240del (p.Tyr414IlefsTer10) c.1153del (p.Tyr385IlefsTer10) n.1380del | ClinVar |
| 22 | g.28695759A= | CA2400238271 | CHEK2 | c.1009-517T= (n.1009-517T=) c.1009T= (p.Tyr337=) c.1210T= (p.Tyr404=) c.547T= (p.Tyr183=) c.550T= (p.Tyr184=) n.762T= c.1123T= (p.Tyr375=) c.1339T= (p.Tyr447=) c.937T= (p.Tyr313=) c.*700T= (n.*700T=) c.1119T= (n.1119T=) c.1148T= (n.1148T=) c.441T= c.1100T= (n.1100T=) c.263+4079T= c.730T= (p.Tyr244=) c.667T= (p.Tyr223=) c.1369T= (p.Tyr457=) c.1282T= (p.Tyr428=) c.1138T= (p.Tyr380=) c.1039T= (p.Tyr347=) n.1369T= c.763T= (p.Tyr255=) c.1333T= (p.Tyr445=) c.1240T= (p.Tyr414=) c.1153T= (p.Tyr385=) n.1380T= | |
| 22 | g.28695759A>C | CA411096736 | CHEK2 | c.1009-517T>G (n.1009-517T>G) c.1009T>G (p.Tyr337Asp) c.1210T>G (p.Tyr404Asp) c.547T>G (p.Tyr183Asp) c.550T>G (p.Tyr184Asp) n.762T>G c.1123T>G (p.Tyr375Asp) c.1339T>G (p.Tyr447Asp) c.937T>G (p.Tyr313Asp) c.*700T>G (n.*700T>G) c.1119T>G (n.1119T>G) c.1148T>G (n.1148T>G) c.441T>G c.1100T>G (n.1100T>G) c.263+4079T>G c.730T>G (p.Tyr244Asp) c.667T>G (p.Tyr223Asp) c.1369T>G (p.Tyr457Asp) c.1282T>G (p.Tyr428Asp) c.1138T>G (p.Tyr380Asp) c.1039T>G (p.Tyr347Asp) n.1369T>G c.763T>G (p.Tyr255Asp) c.1333T>G (p.Tyr445Asp) c.1240T>G (p.Tyr414Asp) c.1153T>G (p.Tyr385Asp) n.1380T>G | COSMIC |
| 22 | g.28695759A>G | CA411096737 | CHEK2 | c.1009-517T>C (n.1009-517T>C) c.1009T>C (p.Tyr337His) c.1210T>C (p.Tyr404His) c.547T>C (p.Tyr183His) c.550T>C (p.Tyr184His) n.762T>C c.1123T>C (p.Tyr375His) c.1339T>C (p.Tyr447His) c.937T>C (p.Tyr313His) c.*700T>C (n.*700T>C) c.1119T>C (n.1119T>C) c.1148T>C (n.1148T>C) c.441T>C c.1100T>C (n.1100T>C) c.263+4079T>C c.730T>C (p.Tyr244His) c.667T>C (p.Tyr223His) c.1369T>C (p.Tyr457His) c.1282T>C (p.Tyr428His) c.1138T>C (p.Tyr380His) c.1039T>C (p.Tyr347His) n.1369T>C c.763T>C (p.Tyr255His) c.1333T>C (p.Tyr445His) c.1240T>C (p.Tyr414His) c.1153T>C (p.Tyr385His) n.1380T>C | ClinVar dbSNP |
| 22 | g.28695759A>T | CA411096738 | CHEK2 | c.1009-517T>A (n.1009-517T>A) c.1009T>A (p.Tyr337Asn) c.1210T>A (p.Tyr404Asn) c.547T>A (p.Tyr183Asn) c.550T>A (p.Tyr184Asn) n.762T>A c.1123T>A (p.Tyr375Asn) c.1339T>A (p.Tyr447Asn) c.937T>A (p.Tyr313Asn) c.*700T>A (n.*700T>A) c.1119T>A (n.1119T>A) c.1148T>A (n.1148T>A) c.441T>A c.1100T>A (n.1100T>A) c.263+4079T>A c.730T>A (p.Tyr244Asn) c.667T>A (p.Tyr223Asn) c.1369T>A (p.Tyr457Asn) c.1282T>A (p.Tyr428Asn) c.1138T>A (p.Tyr380Asn) c.1039T>A (p.Tyr347Asn) n.1369T>A c.763T>A (p.Tyr255Asn) c.1333T>A (p.Tyr445Asn) c.1240T>A (p.Tyr414Asn) c.1153T>A (p.Tyr385Asn) n.1380T>A | ClinVar dbSNP |
| 22 | g.28695759_28695760insAA | CA916083795 | CHEK2 | c.1009-517_1009-516insTT (n.1009-517_1009-516insTT) c.1009_1010insTT (p.Tyr337PhefsTer11) c.1210_1211insTT (p.Tyr404PhefsTer11) c.547_548insTT (p.Tyr183PhefsTer11) c.550_551insTT (p.Tyr184PhefsTer11) n.762_763insTT c.1123_1124insTT (p.Tyr375PhefsTer11) c.1339_1340insTT (p.Tyr447PhefsTer11) c.937_938insTT (p.Tyr313PhefsTer11) c.*700_*701insTT (n.*700_*701insTT) c.1119_1120insTT (n.1119_1120insTT) c.1148_1149insTT (n.1148_1149insTT) c.441_442insTT c.1100_1101insTT (n.1100_1101insTT) c.263+4079_263+4080insTT c.730_731insTT (p.Tyr244PhefsTer11) c.667_668insTT (p.Tyr223PhefsTer11) c.1369_1370insTT (p.Tyr457PhefsTer11) c.1282_1283insTT (p.Tyr428PhefsTer11) c.1138_1139insTT (p.Tyr380PhefsTer11) c.1039_1040insTT (p.Tyr347PhefsTer11) n.1369_1370insTT c.763_764insTT (p.Tyr255PhefsTer11) c.1333_1334insTT (p.Tyr445PhefsTer11) c.1240_1241insTT (p.Tyr414PhefsTer11) c.1153_1154insTT (p.Tyr385PhefsTer11) n.1380_1381insTT | ClinVar dbSNP |
| 22 | g.28695759dup | CA2582342789 | CHEK2 | c.1009-517dup (n.1009-517dup) c.1009dup (p.Tyr337LeufsTer2) c.1210dup (p.Tyr404LeufsTer2) c.547dup (p.Tyr183LeufsTer2) c.550dup (p.Tyr184LeufsTer2) n.762dup c.1123dup (p.Tyr375LeufsTer2) c.1339dup (p.Tyr447LeufsTer2) c.937dup (p.Tyr313LeufsTer2) c.*700dup (n.*700dup) c.1119dup (n.1119dup) c.1148dup (n.1148dup) c.441dup c.1100dup (n.1100dup) c.263+4079dup c.730dup (p.Tyr244LeufsTer2) c.667dup (p.Tyr223LeufsTer2) c.1369dup (p.Tyr457LeufsTer2) c.1282dup (p.Tyr428LeufsTer2) c.1138dup (p.Tyr380LeufsTer2) c.1039dup (p.Tyr347LeufsTer2) n.1369dup c.763dup (p.Tyr255LeufsTer2) c.1333dup (p.Tyr445LeufsTer2) c.1240dup (p.Tyr414LeufsTer2) c.1153dup (p.Tyr385LeufsTer2) n.1380dup | ClinVar |
| 22 | g.28695760C>A | CA513944879 | CHEK2 | c.1009-518G>T (n.1009-518G>T) c.1008G>T (p.Gly336=) c.1209G>T (p.Gly403=) c.546G>T (p.Gly182=) c.549G>T (p.Gly183=) n.761G>T c.1122G>T (p.Gly374=) c.1338G>T (p.Gly446=) c.936G>T (p.Gly312=) c.*699G>T (n.*699G>T) c.1118G>T (n.1118G>T) c.1147G>T (n.1147G>T) c.440G>T c.1099G>T (n.1099G>T) c.263+4078G>T c.729G>T (p.Gly243=) c.666G>T (p.Gly222=) c.1368G>T (p.Gly456=) c.1281G>T (p.Gly427=) c.1137G>T (p.Gly379=) c.1038G>T (p.Gly346=) n.1368G>T c.762G>T (p.Gly254=) c.1332G>T (p.Gly444=) c.1239G>T (p.Gly413=) c.1152G>T (p.Gly384=) n.1379G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.28695760C= | CA2400238272 | CHEK2 | c.1009-518G= (n.1009-518G=) c.1008G= (p.Gly336=) c.1209G= (p.Gly403=) c.546G= (p.Gly182=) c.549G= (p.Gly183=) n.761G= c.1122G= (p.Gly374=) c.1338G= (p.Gly446=) c.936G= (p.Gly312=) c.*699G= (n.*699G=) c.1118G= (n.1118G=) c.1147G= (n.1147G=) c.440G= c.1099G= (n.1099G=) c.263+4078G= c.729G= (p.Gly243=) c.666G= (p.Gly222=) c.1368G= (p.Gly456=) c.1281G= (p.Gly427=) c.1137G= (p.Gly379=) c.1038G= (p.Gly346=) n.1368G= c.762G= (p.Gly254=) c.1332G= (p.Gly444=) c.1239G= (p.Gly413=) c.1152G= (p.Gly384=) n.1379G= | |
| 22 | g.28695760C>G | CA513944880 | CHEK2 | c.1009-518G>C (n.1009-518G>C) c.1008G>C (p.Gly336=) c.1209G>C (p.Gly403=) c.546G>C (p.Gly182=) c.549G>C (p.Gly183=) n.761G>C c.1122G>C (p.Gly374=) c.1338G>C (p.Gly446=) c.936G>C (p.Gly312=) c.*699G>C (n.*699G>C) c.1118G>C (n.1118G>C) c.1147G>C (n.1147G>C) c.440G>C c.1099G>C (n.1099G>C) c.263+4078G>C c.729G>C (p.Gly243=) c.666G>C (p.Gly222=) c.1368G>C (p.Gly456=) c.1281G>C (p.Gly427=) c.1137G>C (p.Gly379=) c.1038G>C (p.Gly346=) n.1368G>C c.762G>C (p.Gly254=) c.1332G>C (p.Gly444=) c.1239G>C (p.Gly413=) c.1152G>C (p.Gly384=) n.1379G>C | dbSNP |
| 22 | g.28695760C>T | CA513944881 | CHEK2 | c.1009-518G>A (n.1009-518G>A) c.1008G>A (p.Gly336=) c.1209G>A (p.Gly403=) c.546G>A (p.Gly182=) c.549G>A (p.Gly183=) n.761G>A c.1122G>A (p.Gly374=) c.1338G>A (p.Gly446=) c.936G>A (p.Gly312=) c.*699G>A (n.*699G>A) c.1118G>A (n.1118G>A) c.1147G>A (n.1147G>A) c.440G>A c.1099G>A (n.1099G>A) c.263+4078G>A c.729G>A (p.Gly243=) c.666G>A (p.Gly222=) c.1368G>A (p.Gly456=) c.1281G>A (p.Gly427=) c.1137G>A (p.Gly379=) c.1038G>A (p.Gly346=) n.1368G>A c.762G>A (p.Gly254=) c.1332G>A (p.Gly444=) c.1239G>A (p.Gly413=) c.1152G>A (p.Gly384=) n.1379G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.28695762dup | CA10603388 | CHEK2 | c.1009-518dup (n.1009-518dup) c.1008dup (p.Tyr337ValfsTer2) c.1209dup (p.Tyr404ValfsTer2) c.546dup (p.Tyr183ValfsTer2) c.549dup (p.Tyr184ValfsTer2) n.761dup c.1122dup (p.Tyr375ValfsTer2) c.1338dup (p.Tyr447ValfsTer2) c.936dup (p.Tyr313ValfsTer2) c.*699dup (n.*699dup) c.1118dup (n.1118dup) c.1147dup (n.1147dup) c.440dup c.1099dup (n.1099dup) c.263+4078dup c.729dup (p.Tyr244ValfsTer2) c.666dup (p.Tyr223ValfsTer2) c.1368dup (p.Tyr457ValfsTer2) c.1281dup (p.Tyr428ValfsTer2) c.1137dup (p.Tyr380ValfsTer2) c.1038dup (p.Tyr347ValfsTer2) n.1368dup c.762dup (p.Tyr255ValfsTer2) c.1332dup (p.Tyr445ValfsTer2) c.1239dup (p.Tyr414ValfsTer2) c.1152dup (p.Tyr385ValfsTer2) n.1379dup | ClinVar dbSNP |
| 22 | g.28695761C>A | CA411096741 | CHEK2 | c.1009-519G>T (n.1009-519G>T) c.1007G>T (p.Gly336Val) c.1208G>T (p.Gly403Val) c.545G>T (p.Gly182Val) c.548G>T (p.Gly183Val) n.760G>T c.1121G>T (p.Gly374Val) c.1337G>T (p.Gly446Val) c.935G>T (p.Gly312Val) c.*698G>T (n.*698G>T) c.1117G>T (n.1117G>T) c.1146G>T (n.1146G>T) c.439G>T c.1098G>T (n.1098G>T) c.263+4077G>T c.728G>T (p.Gly243Val) c.665G>T (p.Gly222Val) c.1367G>T (p.Gly456Val) c.1280G>T (p.Gly427Val) c.1136G>T (p.Gly379Val) c.1037G>T (p.Gly346Val) n.1367G>T c.761G>T (p.Gly254Val) c.1331G>T (p.Gly444Val) c.1238G>T (p.Gly413Val) c.1151G>T (p.Gly384Val) n.1378G>T | ClinVar dbSNP gnomAD v2 |
| 22 | g.28695761C= | CA2400238273 | CHEK2 | c.1009-519G= (n.1009-519G=) c.1007G= (p.Gly336=) c.1208G= (p.Gly403=) c.545G= (p.Gly182=) c.548G= (p.Gly183=) n.760G= c.1121G= (p.Gly374=) c.1337G= (p.Gly446=) c.935G= (p.Gly312=) c.*698G= (n.*698G=) c.1117G= (n.1117G=) c.1146G= (n.1146G=) c.439G= c.1098G= (n.1098G=) c.263+4077G= c.728G= (p.Gly243=) c.665G= (p.Gly222=) c.1367G= (p.Gly456=) c.1280G= (p.Gly427=) c.1136G= (p.Gly379=) c.1037G= (p.Gly346=) n.1367G= c.761G= (p.Gly254=) c.1331G= (p.Gly444=) c.1238G= (p.Gly413=) c.1151G= (p.Gly384=) n.1378G= | |
| 22 | g.28695761C>G | CA411096744 | CHEK2 | c.1009-519G>C (n.1009-519G>C) c.1007G>C (p.Gly336Ala) c.1208G>C (p.Gly403Ala) c.545G>C (p.Gly182Ala) c.548G>C (p.Gly183Ala) n.760G>C c.1121G>C (p.Gly374Ala) c.1337G>C (p.Gly446Ala) c.935G>C (p.Gly312Ala) c.*698G>C (n.*698G>C) c.1117G>C (n.1117G>C) c.1146G>C (n.1146G>C) c.439G>C c.1098G>C (n.1098G>C) c.263+4077G>C c.728G>C (p.Gly243Ala) c.665G>C (p.Gly222Ala) c.1367G>C (p.Gly456Ala) c.1280G>C (p.Gly427Ala) c.1136G>C (p.Gly379Ala) c.1037G>C (p.Gly346Ala) n.1367G>C c.761G>C (p.Gly254Ala) c.1331G>C (p.Gly444Ala) c.1238G>C (p.Gly413Ala) c.1151G>C (p.Gly384Ala) n.1378G>C | dbSNP gnomAD v4 |
| 22 | g.28695761C>T | CA411096742 | CHEK2 | c.1009-519G>A (n.1009-519G>A) c.1007G>A (p.Gly336Glu) c.1208G>A (p.Gly403Glu) c.545G>A (p.Gly182Glu) c.548G>A (p.Gly183Glu) n.760G>A c.1121G>A (p.Gly374Glu) c.1337G>A (p.Gly446Glu) c.935G>A (p.Gly312Glu) c.*698G>A (n.*698G>A) c.1117G>A (n.1117G>A) c.1146G>A (n.1146G>A) c.439G>A c.1098G>A (n.1098G>A) c.263+4077G>A c.728G>A (p.Gly243Glu) c.665G>A (p.Gly222Glu) c.1367G>A (p.Gly456Glu) c.1280G>A (p.Gly427Glu) c.1136G>A (p.Gly379Glu) c.1037G>A (p.Gly346Glu) n.1367G>A c.761G>A (p.Gly254Glu) c.1331G>A (p.Gly444Glu) c.1238G>A (p.Gly413Glu) c.1151G>A (p.Gly384Glu) n.1378G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.28695762C>A | CA411096746 | CHEK2 | c.1009-520G>T (n.1009-520G>T) c.1006G>T (p.Gly336Trp) c.1207G>T (p.Gly403Trp) c.544G>T (p.Gly182Trp) c.547G>T (p.Gly183Trp) n.759G>T c.1120G>T (p.Gly374Trp) c.1336G>T (p.Gly446Trp) c.934G>T (p.Gly312Trp) c.*697G>T (n.*697G>T) c.1116G>T (n.1116G>T) c.1145G>T (n.1145G>T) c.438G>T c.1097G>T (n.1097G>T) c.263+4076G>T c.727G>T (p.Gly243Trp) c.664G>T (p.Gly222Trp) c.1366G>T (p.Gly456Trp) c.1279G>T (p.Gly427Trp) c.1135G>T (p.Gly379Trp) c.1036G>T (p.Gly346Trp) n.1366G>T c.760G>T (p.Gly254Trp) c.1330G>T (p.Gly444Trp) c.1237G>T (p.Gly413Trp) c.1150G>T (p.Gly384Trp) n.1377G>T | ClinVar |
| 22 | g.28695762C= | CA2400238274 | CHEK2 | c.1009-520G= (n.1009-520G=) c.1006G= (p.Gly336=) c.1207G= (p.Gly403=) c.544G= (p.Gly182=) c.547G= (p.Gly183=) n.759G= c.1120G= (p.Gly374=) c.1336G= (p.Gly446=) c.934G= (p.Gly312=) c.*697G= (n.*697G=) c.1116G= (n.1116G=) c.1145G= (n.1145G=) c.438G= c.1097G= (n.1097G=) c.263+4076G= c.727G= (p.Gly243=) c.664G= (p.Gly222=) c.1366G= (p.Gly456=) c.1279G= (p.Gly427=) c.1135G= (p.Gly379=) c.1036G= (p.Gly346=) n.1366G= c.760G= (p.Gly254=) c.1330G= (p.Gly444=) c.1237G= (p.Gly413=) c.1150G= (p.Gly384=) n.1377G= | |
| 22 | g.28695762C>G | CA411096748 | CHEK2 | c.1009-520G>C (n.1009-520G>C) c.1006G>C (p.Gly336Arg) c.1207G>C (p.Gly403Arg) c.544G>C (p.Gly182Arg) c.547G>C (p.Gly183Arg) n.759G>C c.1120G>C (p.Gly374Arg) c.1336G>C (p.Gly446Arg) c.934G>C (p.Gly312Arg) c.*697G>C (n.*697G>C) c.1116G>C (n.1116G>C) c.1145G>C (n.1145G>C) c.438G>C c.1097G>C (n.1097G>C) c.263+4076G>C c.727G>C (p.Gly243Arg) c.664G>C (p.Gly222Arg) c.1366G>C (p.Gly456Arg) c.1279G>C (p.Gly427Arg) c.1135G>C (p.Gly379Arg) c.1036G>C (p.Gly346Arg) n.1366G>C c.760G>C (p.Gly254Arg) c.1330G>C (p.Gly444Arg) c.1237G>C (p.Gly413Arg) c.1150G>C (p.Gly384Arg) n.1377G>C | ClinVar dbSNP |
| 22 | g.28695762C>T | CA411096750 | CHEK2 | c.1009-520G>A (n.1009-520G>A) c.1006G>A (p.Gly336Arg) c.1207G>A (p.Gly403Arg) c.544G>A (p.Gly182Arg) c.547G>A (p.Gly183Arg) n.759G>A c.1120G>A (p.Gly374Arg) c.1336G>A (p.Gly446Arg) c.934G>A (p.Gly312Arg) c.*697G>A (n.*697G>A) c.1116G>A (n.1116G>A) c.1145G>A (n.1145G>A) c.438G>A c.1097G>A (n.1097G>A) c.263+4076G>A c.727G>A (p.Gly243Arg) c.664G>A (p.Gly222Arg) c.1366G>A (p.Gly456Arg) c.1279G>A (p.Gly427Arg) c.1135G>A (p.Gly379Arg) c.1036G>A (p.Gly346Arg) n.1366G>A c.760G>A (p.Gly254Arg) c.1330G>A (p.Gly444Arg) c.1237G>A (p.Gly413Arg) c.1150G>A (p.Gly384Arg) n.1377G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.28695763A= | CA2400238275 | CHEK2 | c.1009-521T= (n.1009-521T=) c.1005T= (p.Ala335=) c.1206T= (p.Ala402=) c.543T= (p.Ala181=) c.546T= (p.Ala182=) n.758T= c.1119T= (p.Ala373=) c.1335T= (p.Ala445=) c.933T= (p.Ala311=) c.*696T= (n.*696T=) c.1115T= (n.1115T=) c.1144T= (n.1144T=) c.437T= c.1096T= (n.1096T=) c.263+4075T= c.726T= (p.Ala242=) c.663T= (p.Ala221=) c.1365T= (p.Ala455=) c.1278T= (p.Ala426=) c.1134T= (p.Ala378=) c.1035T= (p.Ala345=) n.1365T= c.759T= (p.Ala253=) c.1329T= (p.Ala443=) c.1236T= (p.Ala412=) c.1149T= (p.Ala383=) n.1376T= | |
| 22 | g.28695763A>C | CA513944882 | CHEK2 | c.1009-521T>G (n.1009-521T>G) c.1005T>G (p.Ala335=) c.1206T>G (p.Ala402=) c.543T>G (p.Ala181=) c.546T>G (p.Ala182=) n.758T>G c.1119T>G (p.Ala373=) c.1335T>G (p.Ala445=) c.933T>G (p.Ala311=) c.*696T>G (n.*696T>G) c.1115T>G (n.1115T>G) c.1144T>G (n.1144T>G) c.437T>G c.1096T>G (n.1096T>G) c.263+4075T>G c.726T>G (p.Ala242=) c.663T>G (p.Ala221=) c.1365T>G (p.Ala455=) c.1278T>G (p.Ala426=) c.1134T>G (p.Ala378=) c.1035T>G (p.Ala345=) n.1365T>G c.759T>G (p.Ala253=) c.1329T>G (p.Ala443=) c.1236T>G (p.Ala412=) c.1149T>G (p.Ala383=) n.1376T>G | |
| 22 | g.28695763A>G | CA513944883 | CHEK2 | c.1009-521T>C (n.1009-521T>C) c.1005T>C (p.Ala335=) c.1206T>C (p.Ala402=) c.543T>C (p.Ala181=) c.546T>C (p.Ala182=) n.758T>C c.1119T>C (p.Ala373=) c.1335T>C (p.Ala445=) c.933T>C (p.Ala311=) c.*696T>C (n.*696T>C) c.1115T>C (n.1115T>C) c.1144T>C (n.1144T>C) c.437T>C c.1096T>C (n.1096T>C) c.263+4075T>C c.726T>C (p.Ala242=) c.663T>C (p.Ala221=) c.1365T>C (p.Ala455=) c.1278T>C (p.Ala426=) c.1134T>C (p.Ala378=) c.1035T>C (p.Ala345=) n.1365T>C c.759T>C (p.Ala253=) c.1329T>C (p.Ala443=) c.1236T>C (p.Ala412=) c.1149T>C (p.Ala383=) n.1376T>C | ClinVar dbSNP gnomAD v4 |
| 22 | g.28695763A>T | CA513944884 | CHEK2 | c.1009-521T>A (n.1009-521T>A) c.1005T>A (p.Ala335=) c.1206T>A (p.Ala402=) c.543T>A (p.Ala181=) c.546T>A (p.Ala182=) n.758T>A c.1119T>A (p.Ala373=) c.1335T>A (p.Ala445=) c.933T>A (p.Ala311=) c.*696T>A (n.*696T>A) c.1115T>A (n.1115T>A) c.1144T>A (n.1144T>A) c.437T>A c.1096T>A (n.1096T>A) c.263+4075T>A c.726T>A (p.Ala242=) c.663T>A (p.Ala221=) c.1365T>A (p.Ala455=) c.1278T>A (p.Ala426=) c.1134T>A (p.Ala378=) c.1035T>A (p.Ala345=) n.1365T>A c.759T>A (p.Ala253=) c.1329T>A (p.Ala443=) c.1236T>A (p.Ala412=) c.1149T>A (p.Ala383=) n.1376T>A | dbSNP |
| 22 | g.28695763_28695764delinsAG | CA2400238276 | CHEK2 | c.1009-522_1009-521delinsCT (n.1009-522_1009-521delinsCT) c.1004_1005delinsCT (p.Ala335=) c.1205_1206delinsCT (p.Ala402=) c.542_543delinsCT (p.Ala181=) c.545_546delinsCT (p.Ala182=) n.757_758delinsCT c.1118_1119delinsCT (p.Ala373=) c.1334_1335delinsCT (p.Ala445=) c.932_933delinsCT (p.Ala311=) c.*695_*696delinsCT (n.*695_*696delinsCT) c.1114_1115delinsCT (n.1114_1115delinsCT) c.1143_1144delinsCT (n.1143_1144delinsCT) c.436_437delinsCT c.1095_1096delinsCT (n.1095_1096delinsCT) c.263+4074_263+4075delinsCT c.725_726delinsCT (p.Ala242=) c.662_663delinsCT (p.Ala221=) c.1364_1365delinsCT (p.Ala455=) c.1277_1278delinsCT (p.Ala426=) c.1133_1134delinsCT (p.Ala378=) c.1034_1035delinsCT (p.Ala345=) n.1364_1365delinsCT c.758_759delinsCT (p.Ala253=) c.1328_1329delinsCT (p.Ala443=) c.1235_1236delinsCT (p.Ala412=) c.1148_1149delinsCT (p.Ala383=) n.1375_1376delinsCT | |
| 22 | g.28695763_28695764delinsCT | CA658684244 | CHEK2 | c.1009-522_1009-521delinsAG (n.1009-522_1009-521delinsAG) c.1004_1005delinsAG (p.Ala335Glu) c.1205_1206delinsAG (p.Ala402Glu) c.542_543delinsAG (p.Ala181Glu) c.545_546delinsAG (p.Ala182Glu) n.757_758delinsAG c.1118_1119delinsAG (p.Ala373Glu) c.1334_1335delinsAG (p.Ala445Glu) c.932_933delinsAG (p.Ala311Glu) c.*695_*696delinsAG (n.*695_*696delinsAG) c.1114_1115delinsAG (n.1114_1115delinsAG) c.1143_1144delinsAG (n.1143_1144delinsAG) c.436_437delinsAG c.1095_1096delinsAG (n.1095_1096delinsAG) c.263+4074_263+4075delinsAG c.725_726delinsAG (p.Ala242Glu) c.662_663delinsAG (p.Ala221Glu) c.1364_1365delinsAG (p.Ala455Glu) c.1277_1278delinsAG (p.Ala426Glu) c.1133_1134delinsAG (p.Ala378Glu) c.1034_1035delinsAG (p.Ala345Glu) n.1364_1365delinsAG c.758_759delinsAG (p.Ala253Glu) c.1328_1329delinsAG (p.Ala443Glu) c.1235_1236delinsAG (p.Ala412Glu) c.1148_1149delinsAG (p.Ala383Glu) n.1375_1376delinsAG | ClinVar |
| 22 | g.28695763_28695764delinsGA | CA658656827 | CHEK2 | c.1009-522_1009-521delinsTC (n.1009-522_1009-521delinsTC) c.1004_1005delinsTC (p.Ala335Val) c.1205_1206delinsTC (p.Ala402Val) c.542_543delinsTC (p.Ala181Val) c.545_546delinsTC (p.Ala182Val) n.757_758delinsTC c.1118_1119delinsTC (p.Ala373Val) c.1334_1335delinsTC (p.Ala445Val) c.932_933delinsTC (p.Ala311Val) c.*695_*696delinsTC (n.*695_*696delinsTC) c.1114_1115delinsTC (n.1114_1115delinsTC) c.1143_1144delinsTC (n.1143_1144delinsTC) c.436_437delinsTC c.1095_1096delinsTC (n.1095_1096delinsTC) c.263+4074_263+4075delinsTC c.725_726delinsTC (p.Ala242Val) c.662_663delinsTC (p.Ala221Val) c.1364_1365delinsTC (p.Ala455Val) c.1277_1278delinsTC (p.Ala426Val) c.1133_1134delinsTC (p.Ala378Val) c.1034_1035delinsTC (p.Ala345Val) n.1364_1365delinsTC c.758_759delinsTC (p.Ala253Val) c.1328_1329delinsTC (p.Ala443Val) c.1235_1236delinsTC (p.Ala412Val) c.1148_1149delinsTC (p.Ala383Val) n.1375_1376delinsTC | ClinVar dbSNP |
| 22 | g.28695764G>A | CA411096752 | CHEK2 | c.1009-522C>T (n.1009-522C>T) c.1004C>T (p.Ala335Val) c.1205C>T (p.Ala402Val) c.542C>T (p.Ala181Val) c.545C>T (p.Ala182Val) n.757C>T c.1118C>T (p.Ala373Val) c.1334C>T (p.Ala445Val) c.932C>T (p.Ala311Val) c.*695C>T (n.*695C>T) c.1114C>T (n.1114C>T) c.1143C>T (n.1143C>T) c.436C>T c.1095C>T (n.1095C>T) c.263+4074C>T c.725C>T (p.Ala242Val) c.662C>T (p.Ala221Val) c.1364C>T (p.Ala455Val) c.1277C>T (p.Ala426Val) c.1133C>T (p.Ala378Val) c.1034C>T (p.Ala345Val) n.1364C>T c.758C>T (p.Ala253Val) c.1328C>T (p.Ala443Val) c.1235C>T (p.Ala412Val) c.1148C>T (p.Ala383Val) n.1375C>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.28695764G>C | CA411096754 | CHEK2 | c.1009-522C>G (n.1009-522C>G) c.1004C>G (p.Ala335Gly) c.1205C>G (p.Ala402Gly) c.542C>G (p.Ala181Gly) c.545C>G (p.Ala182Gly) n.757C>G c.1118C>G (p.Ala373Gly) c.1334C>G (p.Ala445Gly) c.932C>G (p.Ala311Gly) c.*695C>G (n.*695C>G) c.1114C>G (n.1114C>G) c.1143C>G (n.1143C>G) c.436C>G c.1095C>G (n.1095C>G) c.263+4074C>G c.725C>G (p.Ala242Gly) c.662C>G (p.Ala221Gly) c.1364C>G (p.Ala455Gly) c.1277C>G (p.Ala426Gly) c.1133C>G (p.Ala378Gly) c.1034C>G (p.Ala345Gly) n.1364C>G c.758C>G (p.Ala253Gly) c.1328C>G (p.Ala443Gly) c.1235C>G (p.Ala412Gly) c.1148C>G (p.Ala383Gly) n.1375C>G | ClinVar dbSNP |
| 22 | g.28695764G= | CA2400238277 | CHEK2 | c.1009-522C= (n.1009-522C=) c.1004C= (p.Ala335=) c.1205C= (p.Ala402=) c.542C= (p.Ala181=) c.545C= (p.Ala182=) n.757C= c.1118C= (p.Ala373=) c.1334C= (p.Ala445=) c.932C= (p.Ala311=) c.*695C= (n.*695C=) c.1114C= (n.1114C=) c.1143C= (n.1143C=) c.436C= c.1095C= (n.1095C=) c.263+4074C= c.725C= (p.Ala242=) c.662C= (p.Ala221=) c.1364C= (p.Ala455=) c.1277C= (p.Ala426=) c.1133C= (p.Ala378=) c.1034C= (p.Ala345=) n.1364C= c.758C= (p.Ala253=) c.1328C= (p.Ala443=) c.1235C= (p.Ala412=) c.1148C= (p.Ala383=) n.1375C= | |
| 22 | g.28695764G>T | CA411096756 | CHEK2 | c.1009-522C>A (n.1009-522C>A) c.1004C>A (p.Ala335Asp) c.1205C>A (p.Ala402Asp) c.542C>A (p.Ala181Asp) c.545C>A (p.Ala182Asp) n.757C>A c.1118C>A (p.Ala373Asp) c.1334C>A (p.Ala445Asp) c.932C>A (p.Ala311Asp) c.*695C>A (n.*695C>A) c.1114C>A (n.1114C>A) c.1143C>A (n.1143C>A) c.436C>A c.1095C>A (n.1095C>A) c.263+4074C>A c.725C>A (p.Ala242Asp) c.662C>A (p.Ala221Asp) c.1364C>A (p.Ala455Asp) c.1277C>A (p.Ala426Asp) c.1133C>A (p.Ala378Asp) c.1034C>A (p.Ala345Asp) n.1364C>A c.758C>A (p.Ala253Asp) c.1328C>A (p.Ala443Asp) c.1235C>A (p.Ala412Asp) c.1148C>A (p.Ala383Asp) n.1375C>A | |
| 22 | g.28695764_28695768del | CA2573054990 | CHEK2 | c.1009-526_1009-522del (n.1009-526_1009-522del) c.1000_1004del (p.Thr334TrpfsTer3) c.1201_1205del (p.Thr401TrpfsTer3) c.538_542del (p.Thr180TrpfsTer3) c.541_545del (p.Thr181TrpfsTer3) n.753_757del c.1114_1118del (p.Thr372TrpfsTer3) c.1330_1334del (p.Thr444TrpfsTer3) c.928_932del (p.Thr310TrpfsTer3) c.*691_*695del (n.*691_*695del) c.1110_1114del (n.1110_1114del) c.1139_1143del (n.1139_1143del) c.432_436del c.1091_1095del (n.1091_1095del) c.263+4070_263+4074del c.721_725del (p.Thr241TrpfsTer3) c.658_662del (p.Thr220TrpfsTer3) c.1360_1364del (p.Thr454TrpfsTer3) c.1273_1277del (p.Thr425TrpfsTer3) c.1129_1133del (p.Thr377TrpfsTer3) c.1030_1034del (p.Thr344TrpfsTer3) n.1360_1364del c.754_758del (p.Thr252TrpfsTer3) c.1324_1328del (p.Thr442TrpfsTer3) c.1231_1235del (p.Thr411TrpfsTer3) c.1144_1148del (p.Thr382TrpfsTer3) n.1371_1375del | ClinVar dbSNP |
| 22 | g.28695765C>A | CA411096758 | CHEK2 | c.1009-523G>T (n.1009-523G>T) c.1003G>T (p.Ala335Ser) c.1204G>T (p.Ala402Ser) c.541G>T (p.Ala181Ser) c.544G>T (p.Ala182Ser) n.756G>T c.1117G>T (p.Ala373Ser) c.1333G>T (p.Ala445Ser) c.931G>T (p.Ala311Ser) c.*694G>T (n.*694G>T) c.1113G>T (n.1113G>T) c.1142G>T (n.1142G>T) c.435G>T c.1094G>T (n.1094G>T) c.263+4073G>T c.724G>T (p.Ala242Ser) c.661G>T (p.Ala221Ser) c.1363G>T (p.Ala455Ser) c.1276G>T (p.Ala426Ser) c.1132G>T (p.Ala378Ser) c.1033G>T (p.Ala345Ser) n.1363G>T c.757G>T (p.Ala253Ser) c.1327G>T (p.Ala443Ser) c.1234G>T (p.Ala412Ser) c.1147G>T (p.Ala383Ser) n.1374G>T | ClinVar dbSNP |
| 22 | g.28695765C= | CA2400238278 | CHEK2 | c.1009-523G= (n.1009-523G=) c.1003G= (p.Ala335=) c.1204G= (p.Ala402=) c.541G= (p.Ala181=) c.544G= (p.Ala182=) n.756G= c.1117G= (p.Ala373=) c.1333G= (p.Ala445=) c.931G= (p.Ala311=) c.*694G= (n.*694G=) c.1113G= (n.1113G=) c.1142G= (n.1142G=) c.435G= c.1094G= (n.1094G=) c.263+4073G= c.724G= (p.Ala242=) c.661G= (p.Ala221=) c.1363G= (p.Ala455=) c.1276G= (p.Ala426=) c.1132G= (p.Ala378=) c.1033G= (p.Ala345=) n.1363G= c.757G= (p.Ala253=) c.1327G= (p.Ala443=) c.1234G= (p.Ala412=) c.1147G= (p.Ala383=) n.1374G= | |
| 22 | g.28695765C>G | CA411096760 | CHEK2 | c.1009-523G>C (n.1009-523G>C) c.1003G>C (p.Ala335Pro) c.1204G>C (p.Ala402Pro) c.541G>C (p.Ala181Pro) c.544G>C (p.Ala182Pro) n.756G>C c.1117G>C (p.Ala373Pro) c.1333G>C (p.Ala445Pro) c.931G>C (p.Ala311Pro) c.*694G>C (n.*694G>C) c.1113G>C (n.1113G>C) c.1142G>C (n.1142G>C) c.435G>C c.1094G>C (n.1094G>C) c.263+4073G>C c.724G>C (p.Ala242Pro) c.661G>C (p.Ala221Pro) c.1363G>C (p.Ala455Pro) c.1276G>C (p.Ala426Pro) c.1132G>C (p.Ala378Pro) c.1033G>C (p.Ala345Pro) n.1363G>C c.757G>C (p.Ala253Pro) c.1327G>C (p.Ala443Pro) c.1234G>C (p.Ala412Pro) c.1147G>C (p.Ala383Pro) n.1374G>C | dbSNP |
| 22 | g.28695765C>T | CA10167710 | CHEK2 | c.1009-523G>A (n.1009-523G>A) c.1003G>A (p.Ala335Thr) c.1204G>A (p.Ala402Thr) c.541G>A (p.Ala181Thr) c.544G>A (p.Ala182Thr) n.756G>A c.1117G>A (p.Ala373Thr) c.1333G>A (p.Ala445Thr) c.931G>A (p.Ala311Thr) c.*694G>A (n.*694G>A) c.1113G>A (n.1113G>A) c.1142G>A (n.1142G>A) c.435G>A c.1094G>A (n.1094G>A) c.263+4073G>A c.724G>A (p.Ala242Thr) c.661G>A (p.Ala221Thr) c.1363G>A (p.Ala455Thr) c.1276G>A (p.Ala426Thr) c.1132G>A (p.Ala378Thr) c.1033G>A (p.Ala345Thr) n.1363G>A c.757G>A (p.Ala253Thr) c.1327G>A (p.Ala443Thr) c.1234G>A (p.Ala412Thr) c.1147G>A (p.Ala383Thr) n.1374G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.28695766A= | CA2400238279 | CHEK2 | c.1009-524T= (n.1009-524T=) c.1002T= (p.Thr334=) c.1203T= (p.Thr401=) c.540T= (p.Thr180=) c.543T= (p.Thr181=) n.755T= c.1116T= (p.Thr372=) c.1332T= (p.Thr444=) c.930T= (p.Thr310=) c.*693T= (n.*693T=) c.1112T= (n.1112T=) c.1141T= (n.1141T=) c.434T= c.1093T= (n.1093T=) c.263+4072T= c.723T= (p.Thr241=) c.660T= (p.Thr220=) c.1362T= (p.Thr454=) c.1275T= (p.Thr425=) c.1131T= (p.Thr377=) c.1032T= (p.Thr344=) n.1362T= c.756T= (p.Thr252=) c.1326T= (p.Thr442=) c.1233T= (p.Thr411=) c.1146T= (p.Thr382=) n.1373T= | |
| 22 | g.28695766A>C | CA513944886 | CHEK2 | c.1009-524T>G (n.1009-524T>G) c.1002T>G (p.Thr334=) c.1203T>G (p.Thr401=) c.540T>G (p.Thr180=) c.543T>G (p.Thr181=) n.755T>G c.1116T>G (p.Thr372=) c.1332T>G (p.Thr444=) c.930T>G (p.Thr310=) c.*693T>G (n.*693T>G) c.1112T>G (n.1112T>G) c.1141T>G (n.1141T>G) c.434T>G c.1093T>G (n.1093T>G) c.263+4072T>G c.723T>G (p.Thr241=) c.660T>G (p.Thr220=) c.1362T>G (p.Thr454=) c.1275T>G (p.Thr425=) c.1131T>G (p.Thr377=) c.1032T>G (p.Thr344=) n.1362T>G c.756T>G (p.Thr252=) c.1326T>G (p.Thr442=) c.1233T>G (p.Thr411=) c.1146T>G (p.Thr382=) n.1373T>G | ClinVar |