Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.28695731_28695747delinsAAACTCCAGCAGTCCACCA2400238246CHEK2c.1009-505_1009-489delinsGTGGACTGCTGGAGTTT (n.1009-505_1009-489delinsGTGGACTGCTGGAGTTT)
c.1021_1037delinsGTGGACTGCTGGAGTTT (p.Val341=)
c.1222_1238delinsGTGGACTGCTGGAGTTT (p.Val408=)
c.559_575delinsGTGGACTGCTGGAGTTT (p.Val187=)
c.562_578delinsGTGGACTGCTGGAGTTT (p.Val188=)
n.774_790delinsGTGGACTGCTGGAGTTT
c.1135_1151delinsGTGGACTGCTGGAGTTT (p.Val379=)
c.1351_1367delinsGTGGACTGCTGGAGTTT (p.Val451=)
c.949_965delinsGTGGACTGCTGGAGTTT (p.Val317=)
c.*712_*728delinsGTGGACTGCTGGAGTTT (n.*712_*728delinsGTGGACTGCTGGAGTTT)
c.1131_1147delinsGTGGACTGCTGGAGTTT (n.1131_1147delinsGTGGACTGCTGGAGTTT)
c.1160_1176delinsGTGGACTGCTGGAGTTT (n.1160_1176delinsGTGGACTGCTGGAGTTT)
c.453_469delinsGTGGACTGCTGGAGTTT
c.1112_1128delinsGTGGACTGCTGGAGTTT (n.1112_1128delinsGTGGACTGCTGGAGTTT)
c.263+4091_263+4107delinsGTGGACTGCTGGAGTTT
c.742_758delinsGTGGACTGCTGGAGTTT (p.Val248=)
c.679_695delinsGTGGACTGCTGGAGTTT (p.Val227=)
c.1381_1397delinsGTGGACTGCTGGAGTTT (p.Val461=)
c.1294_1310delinsGTGGACTGCTGGAGTTT (p.Val432=)
c.1150_1166delinsGTGGACTGCTGGAGTTT (p.Val384=)
c.1051_1067delinsGTGGACTGCTGGAGTTT (p.Val351=)
n.1381_1397delinsGTGGACTGCTGGAGTTT
c.775_791delinsGTGGACTGCTGGAGTTT (p.Val259=)
c.1345_1361delinsGTGGACTGCTGGAGTTT (p.Val449=)
c.1252_1268delinsGTGGACTGCTGGAGTTT (p.Val418=)
c.1165_1181delinsGTGGACTGCTGGAGTTT (p.Val389=)
n.1392_1408delinsGTGGACTGCTGGAGTTT
22g.28695733_28695748delCA195139CHEK2c.1009-505_1009-490del (n.1009-505_1009-490del)
c.1021_1036del (p.Val341Ter)
c.1222_1237del (p.Val408Ter)
c.559_574del (p.Val187Ter)
c.562_577del (p.Val188Ter)
n.774_789del
c.1135_1150del (p.Val379Ter)
c.1351_1366del (p.Val451Ter)
c.949_964del (p.Val317Ter)
c.*712_*727del (n.*712_*727del)
c.1131_1146del (n.1131_1146del)
c.1160_1175del (n.1160_1175del)
c.453_468del
c.1112_1127del (n.1112_1127del)
c.263+4091_263+4106del
c.742_757del (p.Val248Ter)
c.679_694del (p.Val227Ter)
c.1381_1396del (p.Val461Ter)
c.1294_1309del (p.Val432Ter)
c.1150_1165del (p.Val384Ter)
c.1051_1066del (p.Val351Ter)
n.1381_1396del
c.775_790del (p.Val259Ter)
c.1345_1360del (p.Val449Ter)
c.1252_1267del (p.Val418Ter)
c.1165_1180del (p.Val389Ter)
n.1392_1407del
 ClinVar dbSNP
22g.28695735_28695760delCA2695230580CHEK2c.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
22g.28695734_28695758delCA2740090120CHEK2c.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
22g.28695735T>ACA411096630CHEK2c.1009-493A>T (n.1009-493A>T)
c.1033A>T (p.Ser345Cys)
c.1234A>T (p.Ser412Cys)
c.571A>T (p.Ser191Cys)
c.574A>T (p.Ser192Cys)
n.786A>T
c.1147A>T (p.Ser383Cys)
c.1363A>T (p.Ser455Cys)
c.961A>T (p.Ser321Cys)
c.*724A>T (n.*724A>T)
c.1143A>T (n.1143A>T)
c.1172A>T (n.1172A>T)
c.465A>T
c.1124A>T (n.1124A>T)
c.263+4103A>T
c.754A>T (p.Ser252Cys)
c.691A>T (p.Ser231Cys)
c.1393A>T (p.Ser465Cys)
c.1306A>T (p.Ser436Cys)
c.1162A>T (p.Ser388Cys)
c.1063A>T (p.Ser355Cys)
n.1393A>T
c.787A>T (p.Ser263Cys)
c.1357A>T (p.Ser453Cys)
c.1264A>T (p.Ser422Cys)
c.1177A>T (p.Ser393Cys)
n.1404A>T
22g.28695735T>CCA411096633CHEK2c.1009-493A>G (n.1009-493A>G)
c.1033A>G (p.Ser345Gly)
c.1234A>G (p.Ser412Gly)
c.571A>G (p.Ser191Gly)
c.574A>G (p.Ser192Gly)
n.786A>G
c.1147A>G (p.Ser383Gly)
c.1363A>G (p.Ser455Gly)
c.961A>G (p.Ser321Gly)
c.*724A>G (n.*724A>G)
c.1143A>G (n.1143A>G)
c.1172A>G (n.1172A>G)
c.465A>G
c.1124A>G (n.1124A>G)
c.263+4103A>G
c.754A>G (p.Ser252Gly)
c.691A>G (p.Ser231Gly)
c.1393A>G (p.Ser465Gly)
c.1306A>G (p.Ser436Gly)
c.1162A>G (p.Ser388Gly)
c.1063A>G (p.Ser355Gly)
n.1393A>G
c.787A>G (p.Ser263Gly)
c.1357A>G (p.Ser453Gly)
c.1264A>G (p.Ser422Gly)
c.1177A>G (p.Ser393Gly)
n.1404A>G
22g.28695735T>GCA411096634CHEK2c.1009-493A>C (n.1009-493A>C)
c.1033A>C (p.Ser345Arg)
c.1234A>C (p.Ser412Arg)
c.571A>C (p.Ser191Arg)
c.574A>C (p.Ser192Arg)
n.786A>C
c.1147A>C (p.Ser383Arg)
c.1363A>C (p.Ser455Arg)
c.961A>C (p.Ser321Arg)
c.*724A>C (n.*724A>C)
c.1143A>C (n.1143A>C)
c.1172A>C (n.1172A>C)
c.465A>C
c.1124A>C (n.1124A>C)
c.263+4103A>C
c.754A>C (p.Ser252Arg)
c.691A>C (p.Ser231Arg)
c.1393A>C (p.Ser465Arg)
c.1306A>C (p.Ser436Arg)
c.1162A>C (p.Ser388Arg)
c.1063A>C (p.Ser355Arg)
n.1393A>C
c.787A>C (p.Ser263Arg)
c.1357A>C (p.Ser453Arg)
c.1264A>C (p.Ser422Arg)
c.1177A>C (p.Ser393Arg)
n.1404A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.28695735T=CA2400238251CHEK2c.1009-493A= (n.1009-493A=)
c.1033A= (p.Ser345=)
c.1234A= (p.Ser412=)
c.571A= (p.Ser191=)
c.574A= (p.Ser192=)
n.786A=
c.1147A= (p.Ser383=)
c.1363A= (p.Ser455=)
c.961A= (p.Ser321=)
c.*724A= (n.*724A=)
c.1143A= (n.1143A=)
c.1172A= (n.1172A=)
c.465A=
c.1124A= (n.1124A=)
c.263+4103A=
c.754A= (p.Ser252=)
c.691A= (p.Ser231=)
c.1393A= (p.Ser465=)
c.1306A= (p.Ser436=)
c.1162A= (p.Ser388=)
c.1063A= (p.Ser355=)
n.1393A=
c.787A= (p.Ser263=)
c.1357A= (p.Ser453=)
c.1264A= (p.Ser422=)
c.1177A= (p.Ser393=)
n.1404A=
22g.28695735_28695760delinsTCCAGCAGTCCACAGCACGGTTATACCA2400238250CHEK2c.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
22g.28695736C>ACA411096638CHEK2c.1009-494G>T (n.1009-494G>T)
c.1032G>T (p.Trp344Cys)
c.1233G>T (p.Trp411Cys)
c.570G>T (p.Trp190Cys)
c.573G>T (p.Trp191Cys)
n.785G>T
c.1146G>T (p.Trp382Cys)
c.1362G>T (p.Trp454Cys)
c.960G>T (p.Trp320Cys)
c.*723G>T (n.*723G>T)
c.1142G>T (n.1142G>T)
c.1171G>T (n.1171G>T)
c.464G>T
c.1123G>T (n.1123G>T)
c.263+4102G>T
c.753G>T (p.Trp251Cys)
c.690G>T (p.Trp230Cys)
c.1392G>T (p.Trp464Cys)
c.1305G>T (p.Trp435Cys)
c.1161G>T (p.Trp387Cys)
c.1062G>T (p.Trp354Cys)
n.1392G>T
c.786G>T (p.Trp262Cys)
c.1356G>T (p.Trp452Cys)
c.1263G>T (p.Trp421Cys)
c.1176G>T (p.Trp392Cys)
n.1403G>T
 ClinVar dbSNP
22g.28695736C=CA2400238253CHEK2c.1009-494G= (n.1009-494G=)
c.1032G= (p.Trp344=)
c.1233G= (p.Trp411=)
c.570G= (p.Trp190=)
c.573G= (p.Trp191=)
n.785G=
c.1146G= (p.Trp382=)
c.1362G= (p.Trp454=)
c.960G= (p.Trp320=)
c.*723G= (n.*723G=)
c.1142G= (n.1142G=)
c.1171G= (n.1171G=)
c.464G=
c.1123G= (n.1123G=)
c.263+4102G=
c.753G= (p.Trp251=)
c.690G= (p.Trp230=)
c.1392G= (p.Trp464=)
c.1305G= (p.Trp435=)
c.1161G= (p.Trp387=)
c.1062G= (p.Trp354=)
n.1392G=
c.786G= (p.Trp262=)
c.1356G= (p.Trp452=)
c.1263G= (p.Trp421=)
c.1176G= (p.Trp392=)
n.1403G=
22g.28695736C>GCA16621053CHEK2c.1009-494G>C (n.1009-494G>C)
c.1032G>C (p.Trp344Cys)
c.1233G>C (p.Trp411Cys)
c.570G>C (p.Trp190Cys)
c.573G>C (p.Trp191Cys)
n.785G>C
c.1146G>C (p.Trp382Cys)
c.1362G>C (p.Trp454Cys)
c.960G>C (p.Trp320Cys)
c.*723G>C (n.*723G>C)
c.1142G>C (n.1142G>C)
c.1171G>C (n.1171G>C)
c.464G>C
c.1123G>C (n.1123G>C)
c.263+4102G>C
c.753G>C (p.Trp251Cys)
c.690G>C (p.Trp230Cys)
c.1392G>C (p.Trp464Cys)
c.1305G>C (p.Trp435Cys)
c.1161G>C (p.Trp387Cys)
c.1062G>C (p.Trp354Cys)
n.1392G>C
c.786G>C (p.Trp262Cys)
c.1356G>C (p.Trp452Cys)
c.1263G>C (p.Trp421Cys)
c.1176G>C (p.Trp392Cys)
n.1403G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.28695736C>TCA411096641CHEK2c.1009-494G>A (n.1009-494G>A)
c.1032G>A (p.Trp344Ter)
c.1233G>A (p.Trp411Ter)
c.570G>A (p.Trp190Ter)
c.573G>A (p.Trp191Ter)
n.785G>A
c.1146G>A (p.Trp382Ter)
c.1362G>A (p.Trp454Ter)
c.960G>A (p.Trp320Ter)
c.*723G>A (n.*723G>A)
c.1142G>A (n.1142G>A)
c.1171G>A (n.1171G>A)
c.464G>A
c.1123G>A (n.1123G>A)
c.263+4102G>A
c.753G>A (p.Trp251Ter)
c.690G>A (p.Trp230Ter)
c.1392G>A (p.Trp464Ter)
c.1305G>A (p.Trp435Ter)
c.1161G>A (p.Trp387Ter)
c.1062G>A (p.Trp354Ter)
n.1392G>A
c.786G>A (p.Trp262Ter)
c.1356G>A (p.Trp452Ter)
c.1263G>A (p.Trp421Ter)
c.1176G>A (p.Trp392Ter)
n.1403G>A
 ClinVar dbSNP COSMIC
22g.28695736_28695739delinsCCAGCA2400238252CHEK2c.1009-497_1009-494delinsCTGG (n.1009-497_1009-494delinsCTGG)
c.1029_1032delinsCTGG (p.Cys343=)
c.1230_1233delinsCTGG (p.Cys410=)
c.567_570delinsCTGG (p.Cys189=)
c.570_573delinsCTGG (p.Cys190=)
n.782_785delinsCTGG
c.1143_1146delinsCTGG (p.Cys381=)
c.1359_1362delinsCTGG (p.Cys453=)
c.957_960delinsCTGG (p.Cys319=)
c.*720_*723delinsCTGG (n.*720_*723delinsCTGG)
c.1139_1142delinsCTGG (n.1139_1142delinsCTGG)
c.1168_1171delinsCTGG (n.1168_1171delinsCTGG)
c.461_464delinsCTGG
c.1120_1123delinsCTGG (n.1120_1123delinsCTGG)
c.263+4099_263+4102delinsCTGG
c.750_753delinsCTGG (p.Cys250=)
c.687_690delinsCTGG (p.Cys229=)
c.1389_1392delinsCTGG (p.Cys463=)
c.1302_1305delinsCTGG (p.Cys434=)
c.1158_1161delinsCTGG (p.Cys386=)
c.1059_1062delinsCTGG (p.Cys353=)
n.1389_1392delinsCTGG
c.783_786delinsCTGG (p.Cys261=)
c.1353_1356delinsCTGG (p.Cys451=)
c.1260_1263delinsCTGG (p.Cys420=)
c.1173_1176delinsCTGG (p.Cys391=)
n.1400_1403delinsCTGG
22g.28695746_28695770dupCA2573157953CHEK2c.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
22g.28695746_28695770delCA658684243CHEK2c.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
22g.28695737C>ACA411096642CHEK2c.1009-495G>T (n.1009-495G>T)
c.1031G>T (p.Trp344Leu)
c.1232G>T (p.Trp411Leu)
c.569G>T (p.Trp190Leu)
c.572G>T (p.Trp191Leu)
n.784G>T
c.1145G>T (p.Trp382Leu)
c.1361G>T (p.Trp454Leu)
c.959G>T (p.Trp320Leu)
c.*722G>T (n.*722G>T)
c.1141G>T (n.1141G>T)
c.1170G>T (n.1170G>T)
c.463G>T
c.1122G>T (n.1122G>T)
c.263+4101G>T
c.752G>T (p.Trp251Leu)
c.689G>T (p.Trp230Leu)
c.1391G>T (p.Trp464Leu)
c.1304G>T (p.Trp435Leu)
c.1160G>T (p.Trp387Leu)
c.1061G>T (p.Trp354Leu)
n.1391G>T
c.785G>T (p.Trp262Leu)
c.1355G>T (p.Trp452Leu)
c.1262G>T (p.Trp421Leu)
c.1175G>T (p.Trp392Leu)
n.1402G>T
22g.28695737C=CA2400238255CHEK2c.1009-495G= (n.1009-495G=)
c.1031G= (p.Trp344=)
c.1232G= (p.Trp411=)
c.569G= (p.Trp190=)
c.572G= (p.Trp191=)
n.784G=
c.1145G= (p.Trp382=)
c.1361G= (p.Trp454=)
c.959G= (p.Trp320=)
c.*722G= (n.*722G=)
c.1141G= (n.1141G=)
c.1170G= (n.1170G=)
c.463G=
c.1122G= (n.1122G=)
c.263+4101G=
c.752G= (p.Trp251=)
c.689G= (p.Trp230=)
c.1391G= (p.Trp464=)
c.1304G= (p.Trp435=)
c.1160G= (p.Trp387=)
c.1061G= (p.Trp354=)
n.1391G=
c.785G= (p.Trp262=)
c.1355G= (p.Trp452=)
c.1262G= (p.Trp421=)
c.1175G= (p.Trp392=)
n.1402G=
22g.28695737C>GCA411096643CHEK2c.1009-495G>C (n.1009-495G>C)
c.1031G>C (p.Trp344Ser)
c.1232G>C (p.Trp411Ser)
c.569G>C (p.Trp190Ser)
c.572G>C (p.Trp191Ser)
n.784G>C
c.1145G>C (p.Trp382Ser)
c.1361G>C (p.Trp454Ser)
c.959G>C (p.Trp320Ser)
c.*722G>C (n.*722G>C)
c.1141G>C (n.1141G>C)
c.1170G>C (n.1170G>C)
c.463G>C
c.1122G>C (n.1122G>C)
c.263+4101G>C
c.752G>C (p.Trp251Ser)
c.689G>C (p.Trp230Ser)
c.1391G>C (p.Trp464Ser)
c.1304G>C (p.Trp435Ser)
c.1160G>C (p.Trp387Ser)
c.1061G>C (p.Trp354Ser)
n.1391G>C
c.785G>C (p.Trp262Ser)
c.1355G>C (p.Trp452Ser)
c.1262G>C (p.Trp421Ser)
c.1175G>C (p.Trp392Ser)
n.1402G>C
 dbSNP
22g.28695737C>TCA10167706CHEK2c.1009-495G>A (n.1009-495G>A)
c.1031G>A (p.Trp344Ter)
c.1232G>A (p.Trp411Ter)
c.569G>A (p.Trp190Ter)
c.572G>A (p.Trp191Ter)
n.784G>A
c.1145G>A (p.Trp382Ter)
c.1361G>A (p.Trp454Ter)
c.959G>A (p.Trp320Ter)
c.*722G>A (n.*722G>A)
c.1141G>A (n.1141G>A)
c.1170G>A (n.1170G>A)
c.463G>A
c.1122G>A (n.1122G>A)
c.263+4101G>A
c.752G>A (p.Trp251Ter)
c.689G>A (p.Trp230Ter)
c.1391G>A (p.Trp464Ter)
c.1304G>A (p.Trp435Ter)
c.1160G>A (p.Trp387Ter)
c.1061G>A (p.Trp354Ter)
n.1391G>A
c.785G>A (p.Trp262Ter)
c.1355G>A (p.Trp452Ter)
c.1262G>A (p.Trp421Ter)
c.1175G>A (p.Trp392Ter)
n.1402G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.28695740_28695742delCA2400238254CHEK2c.1009-497_1009-495del (n.1009-497_1009-495del)
c.1029_1031del (p.Cys343del)
c.1230_1232del (p.Cys410del)
c.567_569del (p.Cys189del)
c.570_572del (p.Cys190del)
n.782_784del
c.1143_1145del (p.Cys381del)
c.1359_1361del (p.Cys453del)
c.957_959del (p.Cys319del)
c.*720_*722del (n.*720_*722del)
c.1139_1141del (n.1139_1141del)
c.1168_1170del (n.1168_1170del)
c.461_463del
c.1120_1122del (n.1120_1122del)
c.263+4099_263+4101del
c.750_752del (p.Cys250del)
c.687_689del (p.Cys229del)
c.1389_1391del (p.Cys463del)
c.1302_1304del (p.Cys434del)
c.1158_1160del (p.Cys386del)
c.1059_1061del (p.Cys353del)
n.1389_1391del
c.783_785del (p.Cys261del)
c.1353_1355del (p.Cys451del)
c.1260_1262del (p.Cys420del)
c.1173_1175del (p.Cys391del)
n.1400_1402del
 ClinVar dbSNP
22g.28695738A=CA2400238256CHEK2c.1009-496T= (n.1009-496T=)
c.1030T= (p.Trp344=)
c.1231T= (p.Trp411=)
c.568T= (p.Trp190=)
c.571T= (p.Trp191=)
n.783T=
c.1144T= (p.Trp382=)
c.1360T= (p.Trp454=)
c.958T= (p.Trp320=)
c.*721T= (n.*721T=)
c.1140T= (n.1140T=)
c.1169T= (n.1169T=)
c.462T=
c.1121T= (n.1121T=)
c.263+4100T=
c.751T= (p.Trp251=)
c.688T= (p.Trp230=)
c.1390T= (p.Trp464=)
c.1303T= (p.Trp435=)
c.1159T= (p.Trp387=)
c.1060T= (p.Trp354=)
n.1390T=
c.784T= (p.Trp262=)
c.1354T= (p.Trp452=)
c.1261T= (p.Trp421=)
c.1174T= (p.Trp392=)
n.1401T=
22g.28695738A>CCA10583900CHEK2c.1009-496T>G (n.1009-496T>G)
c.1030T>G (p.Trp344Gly)
c.1231T>G (p.Trp411Gly)
c.568T>G (p.Trp190Gly)
c.571T>G (p.Trp191Gly)
n.783T>G
c.1144T>G (p.Trp382Gly)
c.1360T>G (p.Trp454Gly)
c.958T>G (p.Trp320Gly)
c.*721T>G (n.*721T>G)
c.1140T>G (n.1140T>G)
c.1169T>G (n.1169T>G)
c.462T>G
c.1121T>G (n.1121T>G)
c.263+4100T>G
c.751T>G (p.Trp251Gly)
c.688T>G (p.Trp230Gly)
c.1390T>G (p.Trp464Gly)
c.1303T>G (p.Trp435Gly)
c.1159T>G (p.Trp387Gly)
c.1060T>G (p.Trp354Gly)
n.1390T>G
c.784T>G (p.Trp262Gly)
c.1354T>G (p.Trp452Gly)
c.1261T>G (p.Trp421Gly)
c.1174T>G (p.Trp392Gly)
n.1401T>G
 ClinVar dbSNP
22g.28695738A>GCA411096647CHEK2c.1009-496T>C (n.1009-496T>C)
c.1030T>C (p.Trp344Arg)
c.1231T>C (p.Trp411Arg)
c.568T>C (p.Trp190Arg)
c.571T>C (p.Trp191Arg)
n.783T>C
c.1144T>C (p.Trp382Arg)
c.1360T>C (p.Trp454Arg)
c.958T>C (p.Trp320Arg)
c.*721T>C (n.*721T>C)
c.1140T>C (n.1140T>C)
c.1169T>C (n.1169T>C)
c.462T>C
c.1121T>C (n.1121T>C)
c.263+4100T>C
c.751T>C (p.Trp251Arg)
c.688T>C (p.Trp230Arg)
c.1390T>C (p.Trp464Arg)
c.1303T>C (p.Trp435Arg)
c.1159T>C (p.Trp387Arg)
c.1060T>C (p.Trp354Arg)
n.1390T>C
c.784T>C (p.Trp262Arg)
c.1354T>C (p.Trp452Arg)
c.1261T>C (p.Trp421Arg)
c.1174T>C (p.Trp392Arg)
n.1401T>C
 ClinVar dbSNP
22g.28695738A>TCA288268CHEK2c.1009-496T>A (n.1009-496T>A)
c.1030T>A (p.Trp344Arg)
c.1231T>A (p.Trp411Arg)
c.568T>A (p.Trp190Arg)
c.571T>A (p.Trp191Arg)
n.783T>A
c.1144T>A (p.Trp382Arg)
c.1360T>A (p.Trp454Arg)
c.958T>A (p.Trp320Arg)
c.*721T>A (n.*721T>A)
c.1140T>A (n.1140T>A)
c.1169T>A (n.1169T>A)
c.462T>A
c.1121T>A (n.1121T>A)
c.263+4100T>A
c.751T>A (p.Trp251Arg)
c.688T>A (p.Trp230Arg)
c.1390T>A (p.Trp464Arg)
c.1303T>A (p.Trp435Arg)
c.1159T>A (p.Trp387Arg)
c.1060T>A (p.Trp354Arg)
n.1390T>A
c.784T>A (p.Trp262Arg)
c.1354T>A (p.Trp452Arg)
c.1261T>A (p.Trp421Arg)
c.1174T>A (p.Trp392Arg)
n.1401T>A
 ClinVar dbSNP gnomAD v4
22g.28695739G>ACA10167707CHEK2c.1009-497C>T (n.1009-497C>T)
c.1029C>T (p.Cys343=)
c.1230C>T (p.Cys410=)
c.567C>T (p.Cys189=)
c.570C>T (p.Cys190=)
n.782C>T
c.1143C>T (p.Cys381=)
c.1359C>T (p.Cys453=)
c.957C>T (p.Cys319=)
c.*720C>T (n.*720C>T)
c.1139C>T (n.1139C>T)
c.1168C>T (n.1168C>T)
c.461C>T
c.1120C>T (n.1120C>T)
c.263+4099C>T
c.750C>T (p.Cys250=)
c.687C>T (p.Cys229=)
c.1389C>T (p.Cys463=)
c.1302C>T (p.Cys434=)
c.1158C>T (p.Cys386=)
c.1059C>T (p.Cys353=)
n.1389C>T
c.783C>T (p.Cys261=)
c.1353C>T (p.Cys451=)
c.1260C>T (p.Cys420=)
c.1173C>T (p.Cys391=)
n.1400C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.28695739G>CCA411096654CHEK2c.1009-497C>G (n.1009-497C>G)
c.1029C>G (p.Cys343Trp)
c.1230C>G (p.Cys410Trp)
c.567C>G (p.Cys189Trp)
c.570C>G (p.Cys190Trp)
n.782C>G
c.1143C>G (p.Cys381Trp)
c.1359C>G (p.Cys453Trp)
c.957C>G (p.Cys319Trp)
c.*720C>G (n.*720C>G)
c.1139C>G (n.1139C>G)
c.1168C>G (n.1168C>G)
c.461C>G
c.1120C>G (n.1120C>G)
c.263+4099C>G
c.750C>G (p.Cys250Trp)
c.687C>G (p.Cys229Trp)
c.1389C>G (p.Cys463Trp)
c.1302C>G (p.Cys434Trp)
c.1158C>G (p.Cys386Trp)
c.1059C>G (p.Cys353Trp)
n.1389C>G
c.783C>G (p.Cys261Trp)
c.1353C>G (p.Cys451Trp)
c.1260C>G (p.Cys420Trp)
c.1173C>G (p.Cys391Trp)
n.1400C>G
 dbSNP
22g.28695739G=CA2400238257CHEK2c.1009-497C= (n.1009-497C=)
c.1029C= (p.Cys343=)
c.1230C= (p.Cys410=)
c.567C= (p.Cys189=)
c.570C= (p.Cys190=)
n.782C=
c.1143C= (p.Cys381=)
c.1359C= (p.Cys453=)
c.957C= (p.Cys319=)
c.*720C= (n.*720C=)
c.1139C= (n.1139C=)
c.1168C= (n.1168C=)
c.461C=
c.1120C= (n.1120C=)
c.263+4099C=
c.750C= (p.Cys250=)
c.687C= (p.Cys229=)
c.1389C= (p.Cys463=)
c.1302C= (p.Cys434=)
c.1158C= (p.Cys386=)
c.1059C= (p.Cys353=)
n.1389C=
c.783C= (p.Cys261=)
c.1353C= (p.Cys451=)
c.1260C= (p.Cys420=)
c.1173C= (p.Cys391=)
n.1400C=
22g.28695739G>TCA411096651CHEK2c.1009-497C>A (n.1009-497C>A)
c.1029C>A (p.Cys343Ter)
c.1230C>A (p.Cys410Ter)
c.567C>A (p.Cys189Ter)
c.570C>A (p.Cys190Ter)
n.782C>A
c.1143C>A (p.Cys381Ter)
c.1359C>A (p.Cys453Ter)
c.957C>A (p.Cys319Ter)
c.*720C>A (n.*720C>A)
c.1139C>A (n.1139C>A)
c.1168C>A (n.1168C>A)
c.461C>A
c.1120C>A (n.1120C>A)
c.263+4099C>A
c.750C>A (p.Cys250Ter)
c.687C>A (p.Cys229Ter)
c.1389C>A (p.Cys463Ter)
c.1302C>A (p.Cys434Ter)
c.1158C>A (p.Cys386Ter)
c.1059C>A (p.Cys353Ter)
n.1389C>A
c.783C>A (p.Cys261Ter)
c.1353C>A (p.Cys451Ter)
c.1260C>A (p.Cys420Ter)
c.1173C>A (p.Cys391Ter)
n.1400C>A
 ClinVar dbSNP
22g.28695740delCA1139770416CHEK2c.1009-498del (n.1009-498del)
c.1028del (p.Cys343SerfsTer4)
c.1229del (p.Cys410SerfsTer4)
c.566del (p.Cys189SerfsTer4)
c.569del (p.Cys190SerfsTer4)
n.781del
c.1142del (p.Cys381SerfsTer4)
c.1358del (p.Cys453SerfsTer4)
c.956del (p.Cys319SerfsTer4)
c.*719del (n.*719del)
c.1138del (n.1138del)
c.1167del (n.1167del)
c.460del
c.1119del (n.1119del)
c.263+4098del
c.749del (p.Cys250SerfsTer4)
c.686del (p.Cys229SerfsTer4)
c.1388del (p.Cys463SerfsTer4)
c.1301del (p.Cys434SerfsTer4)
c.1157del (p.Cys386SerfsTer4)
c.1058del (p.Cys353SerfsTer4)
n.1388del
c.782del (p.Cys261SerfsTer4)
c.1352del (p.Cys451SerfsTer4)
c.1259del (p.Cys420SerfsTer4)
c.1172del (p.Cys391SerfsTer4)
n.1399del
 ClinVar
22g.28695740C>ACA411096655CHEK2c.1009-498G>T (n.1009-498G>T)
c.1028G>T (p.Cys343Phe)
c.1229G>T (p.Cys410Phe)
c.566G>T (p.Cys189Phe)
c.569G>T (p.Cys190Phe)
n.781G>T
c.1142G>T (p.Cys381Phe)
c.1358G>T (p.Cys453Phe)
c.956G>T (p.Cys319Phe)
c.*719G>T (n.*719G>T)
c.1138G>T (n.1138G>T)
c.1167G>T (n.1167G>T)
c.460G>T
c.1119G>T (n.1119G>T)
c.263+4098G>T
c.749G>T (p.Cys250Phe)
c.686G>T (p.Cys229Phe)
c.1388G>T (p.Cys463Phe)
c.1301G>T (p.Cys434Phe)
c.1157G>T (p.Cys386Phe)
c.1058G>T (p.Cys353Phe)
n.1388G>T
c.782G>T (p.Cys261Phe)
c.1352G>T (p.Cys451Phe)
c.1259G>T (p.Cys420Phe)
c.1172G>T (p.Cys391Phe)
n.1399G>T
 dbSNP
22g.28695740C>GCA411096656CHEK2c.1009-498G>C (n.1009-498G>C)
c.1028G>C (p.Cys343Ser)
c.1229G>C (p.Cys410Ser)
c.566G>C (p.Cys189Ser)
c.569G>C (p.Cys190Ser)
n.781G>C
c.1142G>C (p.Cys381Ser)
c.1358G>C (p.Cys453Ser)
c.956G>C (p.Cys319Ser)
c.*719G>C (n.*719G>C)
c.1138G>C (n.1138G>C)
c.1167G>C (n.1167G>C)
c.460G>C
c.1119G>C (n.1119G>C)
c.263+4098G>C
c.749G>C (p.Cys250Ser)
c.686G>C (p.Cys229Ser)
c.1388G>C (p.Cys463Ser)
c.1301G>C (p.Cys434Ser)
c.1157G>C (p.Cys386Ser)
c.1058G>C (p.Cys353Ser)
n.1388G>C
c.782G>C (p.Cys261Ser)
c.1352G>C (p.Cys451Ser)
c.1259G>C (p.Cys420Ser)
c.1172G>C (p.Cys391Ser)
n.1399G>C
 dbSNP
22g.28695740C>TCA411096657CHEK2c.1009-498G>A (n.1009-498G>A)
c.1028G>A (p.Cys343Tyr)
c.1229G>A (p.Cys410Tyr)
c.566G>A (p.Cys189Tyr)
c.569G>A (p.Cys190Tyr)
n.781G>A
c.1142G>A (p.Cys381Tyr)
c.1358G>A (p.Cys453Tyr)
c.956G>A (p.Cys319Tyr)
c.*719G>A (n.*719G>A)
c.1138G>A (n.1138G>A)
c.1167G>A (n.1167G>A)
c.460G>A
c.1119G>A (n.1119G>A)
c.263+4098G>A
c.749G>A (p.Cys250Tyr)
c.686G>A (p.Cys229Tyr)
c.1388G>A (p.Cys463Tyr)
c.1301G>A (p.Cys434Tyr)
c.1157G>A (p.Cys386Tyr)
c.1058G>A (p.Cys353Tyr)
n.1388G>A
c.782G>A (p.Cys261Tyr)
c.1352G>A (p.Cys451Tyr)
c.1259G>A (p.Cys420Tyr)
c.1172G>A (p.Cys391Tyr)
n.1399G>A
 dbSNP
22g.28695741A=CA2400238258CHEK2c.1009-499T= (n.1009-499T=)
c.1027T= (p.Cys343=)
c.1228T= (p.Cys410=)
c.565T= (p.Cys189=)
c.568T= (p.Cys190=)
n.780T=
c.1141T= (p.Cys381=)
c.1357T= (p.Cys453=)
c.955T= (p.Cys319=)
c.*718T= (n.*718T=)
c.1137T= (n.1137T=)
c.1166T= (n.1166T=)
c.459T=
c.1118T= (n.1118T=)
c.263+4097T=
c.748T= (p.Cys250=)
c.685T= (p.Cys229=)
c.1387T= (p.Cys463=)
c.1300T= (p.Cys434=)
c.1156T= (p.Cys386=)
c.1057T= (p.Cys353=)
n.1387T=
c.781T= (p.Cys261=)
c.1351T= (p.Cys451=)
c.1258T= (p.Cys420=)
c.1171T= (p.Cys391=)
n.1398T=
22g.28695741A>CCA411096658CHEK2c.1009-499T>G (n.1009-499T>G)
c.1027T>G (p.Cys343Gly)
c.1228T>G (p.Cys410Gly)
c.565T>G (p.Cys189Gly)
c.568T>G (p.Cys190Gly)
n.780T>G
c.1141T>G (p.Cys381Gly)
c.1357T>G (p.Cys453Gly)
c.955T>G (p.Cys319Gly)
c.*718T>G (n.*718T>G)
c.1137T>G (n.1137T>G)
c.1166T>G (n.1166T>G)
c.459T>G
c.1118T>G (n.1118T>G)
c.263+4097T>G
c.748T>G (p.Cys250Gly)
c.685T>G (p.Cys229Gly)
c.1387T>G (p.Cys463Gly)
c.1300T>G (p.Cys434Gly)
c.1156T>G (p.Cys386Gly)
c.1057T>G (p.Cys353Gly)
n.1387T>G
c.781T>G (p.Cys261Gly)
c.1351T>G (p.Cys451Gly)
c.1258T>G (p.Cys420Gly)
c.1171T>G (p.Cys391Gly)
n.1398T>G
 ClinVar dbSNP gnomAD v4
22g.28695741A>GCA411096659CHEK2c.1009-499T>C (n.1009-499T>C)
c.1027T>C (p.Cys343Arg)
c.1228T>C (p.Cys410Arg)
c.565T>C (p.Cys189Arg)
c.568T>C (p.Cys190Arg)
n.780T>C
c.1141T>C (p.Cys381Arg)
c.1357T>C (p.Cys453Arg)
c.955T>C (p.Cys319Arg)
c.*718T>C (n.*718T>C)
c.1137T>C (n.1137T>C)
c.1166T>C (n.1166T>C)
c.459T>C
c.1118T>C (n.1118T>C)
c.263+4097T>C
c.748T>C (p.Cys250Arg)
c.685T>C (p.Cys229Arg)
c.1387T>C (p.Cys463Arg)
c.1300T>C (p.Cys434Arg)
c.1156T>C (p.Cys386Arg)
c.1057T>C (p.Cys353Arg)
n.1387T>C
c.781T>C (p.Cys261Arg)
c.1351T>C (p.Cys451Arg)
c.1258T>C (p.Cys420Arg)
c.1171T>C (p.Cys391Arg)
n.1398T>C
 ClinVar dbSNP gnomAD v4
22g.28695741A>TCA411096660CHEK2c.1009-499T>A (n.1009-499T>A)
c.1027T>A (p.Cys343Ser)
c.1228T>A (p.Cys410Ser)
c.565T>A (p.Cys189Ser)
c.568T>A (p.Cys190Ser)
n.780T>A
c.1141T>A (p.Cys381Ser)
c.1357T>A (p.Cys453Ser)
c.955T>A (p.Cys319Ser)
c.*718T>A (n.*718T>A)
c.1137T>A (n.1137T>A)
c.1166T>A (n.1166T>A)
c.459T>A
c.1118T>A (n.1118T>A)
c.263+4097T>A
c.748T>A (p.Cys250Ser)
c.685T>A (p.Cys229Ser)
c.1387T>A (p.Cys463Ser)
c.1300T>A (p.Cys434Ser)
c.1156T>A (p.Cys386Ser)
c.1057T>A (p.Cys353Ser)
n.1387T>A
c.781T>A (p.Cys261Ser)
c.1351T>A (p.Cys451Ser)
c.1258T>A (p.Cys420Ser)
c.1171T>A (p.Cys391Ser)
n.1398T>A
 dbSNP
22g.28695742G>ACA513944867CHEK2c.1009-500C>T (n.1009-500C>T)
c.1026C>T (p.Asp342=)
c.1227C>T (p.Asp409=)
c.564C>T (p.Asp188=)
c.567C>T (p.Asp189=)
n.779C>T
c.1140C>T (p.Asp380=)
c.1356C>T (p.Asp452=)
c.954C>T (p.Asp318=)
c.*717C>T (n.*717C>T)
c.1136C>T (n.1136C>T)
c.1165C>T (n.1165C>T)
c.458C>T
c.1117C>T (n.1117C>T)
c.263+4096C>T
c.747C>T (p.Asp249=)
c.684C>T (p.Asp228=)
c.1386C>T (p.Asp462=)
c.1299C>T (p.Asp433=)
c.1155C>T (p.Asp385=)
c.1056C>T (p.Asp352=)
n.1386C>T
c.780C>T (p.Asp260=)
c.1350C>T (p.Asp450=)
c.1257C>T (p.Asp419=)
c.1170C>T (p.Asp390=)
n.1397C>T
 ClinVar dbSNP gnomAD v4
22g.28695742G>CCA411096663CHEK2c.1009-500C>G (n.1009-500C>G)
c.1026C>G (p.Asp342Glu)
c.1227C>G (p.Asp409Glu)
c.564C>G (p.Asp188Glu)
c.567C>G (p.Asp189Glu)
n.779C>G
c.1140C>G (p.Asp380Glu)
c.1356C>G (p.Asp452Glu)
c.954C>G (p.Asp318Glu)
c.*717C>G (n.*717C>G)
c.1136C>G (n.1136C>G)
c.1165C>G (n.1165C>G)
c.458C>G
c.1117C>G (n.1117C>G)
c.263+4096C>G
c.747C>G (p.Asp249Glu)
c.684C>G (p.Asp228Glu)
c.1386C>G (p.Asp462Glu)
c.1299C>G (p.Asp433Glu)
c.1155C>G (p.Asp385Glu)
c.1056C>G (p.Asp352Glu)
n.1386C>G
c.780C>G (p.Asp260Glu)
c.1350C>G (p.Asp450Glu)
c.1257C>G (p.Asp419Glu)
c.1170C>G (p.Asp390Glu)
n.1397C>G
 ClinVar dbSNP
22g.28695742G>TCA411096665CHEK2c.1009-500C>A (n.1009-500C>A)
c.1026C>A (p.Asp342Glu)
c.1227C>A (p.Asp409Glu)
c.564C>A (p.Asp188Glu)
c.567C>A (p.Asp189Glu)
n.779C>A
c.1140C>A (p.Asp380Glu)
c.1356C>A (p.Asp452Glu)
c.954C>A (p.Asp318Glu)
c.*717C>A (n.*717C>A)
c.1136C>A (n.1136C>A)
c.1165C>A (n.1165C>A)
c.458C>A
c.1117C>A (n.1117C>A)
c.263+4096C>A
c.747C>A (p.Asp249Glu)
c.684C>A (p.Asp228Glu)
c.1386C>A (p.Asp462Glu)
c.1299C>A (p.Asp433Glu)
c.1155C>A (p.Asp385Glu)
c.1056C>A (p.Asp352Glu)
n.1386C>A
c.780C>A (p.Asp260Glu)
c.1350C>A (p.Asp450Glu)
c.1257C>A (p.Asp419Glu)
c.1170C>A (p.Asp390Glu)
n.1397C>A
 ClinVar dbSNP
22g.28695743T>ACA10167708CHEK2c.1009-501A>T (n.1009-501A>T)
c.1025A>T (p.Asp342Val)
c.1226A>T (p.Asp409Val)
c.563A>T (p.Asp188Val)
c.566A>T (p.Asp189Val)
n.778A>T
c.1139A>T (p.Asp380Val)
c.1355A>T (p.Asp452Val)
c.953A>T (p.Asp318Val)
c.*716A>T (n.*716A>T)
c.1135A>T (n.1135A>T)
c.1164A>T (n.1164A>T)
c.457A>T
c.1116A>T (n.1116A>T)
c.263+4095A>T
c.746A>T (p.Asp249Val)
c.683A>T (p.Asp228Val)
c.1385A>T (p.Asp462Val)
c.1298A>T (p.Asp433Val)
c.1154A>T (p.Asp385Val)
c.1055A>T (p.Asp352Val)
n.1385A>T
c.779A>T (p.Asp260Val)
c.1349A>T (p.Asp450Val)
c.1256A>T (p.Asp419Val)
c.1169A>T (p.Asp390Val)
n.1396A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.28695743T>CCA411096668CHEK2c.1009-501A>G (n.1009-501A>G)
c.1025A>G (p.Asp342Gly)
c.1226A>G (p.Asp409Gly)
c.563A>G (p.Asp188Gly)
c.566A>G (p.Asp189Gly)
n.778A>G
c.1139A>G (p.Asp380Gly)
c.1355A>G (p.Asp452Gly)
c.953A>G (p.Asp318Gly)
c.*716A>G (n.*716A>G)
c.1135A>G (n.1135A>G)
c.1164A>G (n.1164A>G)
c.457A>G
c.1116A>G (n.1116A>G)
c.263+4095A>G
c.746A>G (p.Asp249Gly)
c.683A>G (p.Asp228Gly)
c.1385A>G (p.Asp462Gly)
c.1298A>G (p.Asp433Gly)
c.1154A>G (p.Asp385Gly)
c.1055A>G (p.Asp352Gly)
n.1385A>G
c.779A>G (p.Asp260Gly)
c.1349A>G (p.Asp450Gly)
c.1256A>G (p.Asp419Gly)
c.1169A>G (p.Asp390Gly)
n.1396A>G
 ClinVar dbSNP
22g.28695743T>GCA411096670CHEK2c.1009-501A>C (n.1009-501A>C)
c.1025A>C (p.Asp342Ala)
c.1226A>C (p.Asp409Ala)
c.563A>C (p.Asp188Ala)
c.566A>C (p.Asp189Ala)
n.778A>C
c.1139A>C (p.Asp380Ala)
c.1355A>C (p.Asp452Ala)
c.953A>C (p.Asp318Ala)
c.*716A>C (n.*716A>C)
c.1135A>C (n.1135A>C)
c.1164A>C (n.1164A>C)
c.457A>C
c.1116A>C (n.1116A>C)
c.263+4095A>C
c.746A>C (p.Asp249Ala)
c.683A>C (p.Asp228Ala)
c.1385A>C (p.Asp462Ala)
c.1298A>C (p.Asp433Ala)
c.1154A>C (p.Asp385Ala)
c.1055A>C (p.Asp352Ala)
n.1385A>C
c.779A>C (p.Asp260Ala)
c.1349A>C (p.Asp450Ala)
c.1256A>C (p.Asp419Ala)
c.1169A>C (p.Asp390Ala)
n.1396A>C
22g.28695743T=CA2400238259CHEK2c.1009-501A= (n.1009-501A=)
c.1025A= (p.Asp342=)
c.1226A= (p.Asp409=)
c.563A= (p.Asp188=)
c.566A= (p.Asp189=)
n.778A=
c.1139A= (p.Asp380=)
c.1355A= (p.Asp452=)
c.953A= (p.Asp318=)
c.*716A= (n.*716A=)
c.1135A= (n.1135A=)
c.1164A= (n.1164A=)
c.457A=
c.1116A= (n.1116A=)
c.263+4095A=
c.746A= (p.Asp249=)
c.683A= (p.Asp228=)
c.1385A= (p.Asp462=)
c.1298A= (p.Asp433=)
c.1154A= (p.Asp385=)
c.1055A= (p.Asp352=)
n.1385A=
c.779A= (p.Asp260=)
c.1349A= (p.Asp450=)
c.1256A= (p.Asp419=)
c.1169A= (p.Asp390=)
n.1396A=
22g.28695744C>ACA411096673CHEK2c.1009-502G>T (n.1009-502G>T)
c.1024G>T (p.Asp342Tyr)
c.1225G>T (p.Asp409Tyr)
c.562G>T (p.Asp188Tyr)
c.565G>T (p.Asp189Tyr)
n.777G>T
c.1138G>T (p.Asp380Tyr)
c.1354G>T (p.Asp452Tyr)
c.952G>T (p.Asp318Tyr)
c.*715G>T (n.*715G>T)
c.1134G>T (n.1134G>T)
c.1163G>T (n.1163G>T)
c.456G>T
c.1115G>T (n.1115G>T)
c.263+4094G>T
c.745G>T (p.Asp249Tyr)
c.682G>T (p.Asp228Tyr)
c.1384G>T (p.Asp462Tyr)
c.1297G>T (p.Asp433Tyr)
c.1153G>T (p.Asp385Tyr)
c.1054G>T (p.Asp352Tyr)
n.1384G>T
c.778G>T (p.Asp260Tyr)
c.1348G>T (p.Asp450Tyr)
c.1255G>T (p.Asp419Tyr)
c.1168G>T (p.Asp390Tyr)
n.1395G>T
 ClinVar dbSNP
22g.28695744C=CA2400238260CHEK2c.1009-502G= (n.1009-502G=)
c.1024G= (p.Asp342=)
c.1225G= (p.Asp409=)
c.562G= (p.Asp188=)
c.565G= (p.Asp189=)
n.777G=
c.1138G= (p.Asp380=)
c.1354G= (p.Asp452=)
c.952G= (p.Asp318=)
c.*715G= (n.*715G=)
c.1134G= (n.1134G=)
c.1163G= (n.1163G=)
c.456G=
c.1115G= (n.1115G=)
c.263+4094G=
c.745G= (p.Asp249=)
c.682G= (p.Asp228=)
c.1384G= (p.Asp462=)
c.1297G= (p.Asp433=)
c.1153G= (p.Asp385=)
c.1054G= (p.Asp352=)
n.1384G=
c.778G= (p.Asp260=)
c.1348G= (p.Asp450=)
c.1255G= (p.Asp419=)
c.1168G= (p.Asp390=)
n.1395G=
22g.28695744C>GCA10167709CHEK2c.1009-502G>C (n.1009-502G>C)
c.1024G>C (p.Asp342His)
c.1225G>C (p.Asp409His)
c.562G>C (p.Asp188His)
c.565G>C (p.Asp189His)
n.777G>C
c.1138G>C (p.Asp380His)
c.1354G>C (p.Asp452His)
c.952G>C (p.Asp318His)
c.*715G>C (n.*715G>C)
c.1134G>C (n.1134G>C)
c.1163G>C (n.1163G>C)
c.456G>C
c.1115G>C (n.1115G>C)
c.263+4094G>C
c.745G>C (p.Asp249His)
c.682G>C (p.Asp228His)
c.1384G>C (p.Asp462His)
c.1297G>C (p.Asp433His)
c.1153G>C (p.Asp385His)
c.1054G>C (p.Asp352His)
n.1384G>C
c.778G>C (p.Asp260His)
c.1348G>C (p.Asp450His)
c.1255G>C (p.Asp419His)
c.1168G>C (p.Asp390His)
n.1395G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.28695744C>TCA10577633CHEK2c.1009-502G>A (n.1009-502G>A)
c.1024G>A (p.Asp342Asn)
c.1225G>A (p.Asp409Asn)
c.562G>A (p.Asp188Asn)
c.565G>A (p.Asp189Asn)
n.777G>A
c.1138G>A (p.Asp380Asn)
c.1354G>A (p.Asp452Asn)
c.952G>A (p.Asp318Asn)
c.*715G>A (n.*715G>A)
c.1134G>A (n.1134G>A)
c.1163G>A (n.1163G>A)
c.456G>A
c.1115G>A (n.1115G>A)
c.263+4094G>A
c.745G>A (p.Asp249Asn)
c.682G>A (p.Asp228Asn)
c.1384G>A (p.Asp462Asn)
c.1297G>A (p.Asp433Asn)
c.1153G>A (p.Asp385Asn)
c.1054G>A (p.Asp352Asn)
n.1384G>A
c.778G>A (p.Asp260Asn)
c.1348G>A (p.Asp450Asn)
c.1255G>A (p.Asp419Asn)
c.1168G>A (p.Asp390Asn)
n.1395G>A
 ClinVar dbSNP
22g.28695745C>ACA513944868CHEK2c.1009-503G>T (n.1009-503G>T)
c.1023G>T (p.Val341=)
c.1224G>T (p.Val408=)
c.561G>T (p.Val187=)
c.564G>T (p.Val188=)
n.776G>T
c.1137G>T (p.Val379=)
c.1353G>T (p.Val451=)
c.951G>T (p.Val317=)
c.*714G>T (n.*714G>T)
c.1133G>T (n.1133G>T)
c.1162G>T (n.1162G>T)
c.455G>T
c.1114G>T (n.1114G>T)
c.263+4093G>T
c.744G>T (p.Val248=)
c.681G>T (p.Val227=)
c.1383G>T (p.Val461=)
c.1296G>T (p.Val432=)
c.1152G>T (p.Val384=)
c.1053G>T (p.Val351=)
n.1383G>T
c.777G>T (p.Val259=)
c.1347G>T (p.Val449=)
c.1254G>T (p.Val418=)
c.1167G>T (p.Val389=)
n.1394G>T
22g.28695745C>GCA513944869CHEK2c.1009-503G>C (n.1009-503G>C)
c.1023G>C (p.Val341=)
c.1224G>C (p.Val408=)
c.561G>C (p.Val187=)
c.564G>C (p.Val188=)
n.776G>C
c.1137G>C (p.Val379=)
c.1353G>C (p.Val451=)
c.951G>C (p.Val317=)
c.*714G>C (n.*714G>C)
c.1133G>C (n.1133G>C)
c.1162G>C (n.1162G>C)
c.455G>C
c.1114G>C (n.1114G>C)
c.263+4093G>C
c.744G>C (p.Val248=)
c.681G>C (p.Val227=)
c.1383G>C (p.Val461=)
c.1296G>C (p.Val432=)
c.1152G>C (p.Val384=)
c.1053G>C (p.Val351=)
n.1383G>C
c.777G>C (p.Val259=)
c.1347G>C (p.Val449=)
c.1254G>C (p.Val418=)
c.1167G>C (p.Val389=)
n.1394G>C

Number of alleles fetched