UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28695771del | CA2580615274 | CHEK2 | c.1009-527del (n.1009-527del) c.999del (p.Thr334LeufsTer13) c.1200del (p.Thr401LeufsTer13) c.537del (p.Thr180LeufsTer13) c.540del (p.Thr181LeufsTer13) n.752del c.1113del (p.Thr372LeufsTer13) c.1329del (p.Thr444LeufsTer13) c.927del (p.Thr310LeufsTer13) c.*690del (n.*690del) c.1109del (n.1109del) c.1138del (n.1138del) c.431del c.1090del (n.1090del) c.263+4069del c.720del (p.Thr241LeufsTer13) c.657del (p.Thr220LeufsTer13) c.1359del (p.Thr454LeufsTer13) c.1272del (p.Thr425LeufsTer13) c.1128del (p.Thr377LeufsTer13) c.1029del (p.Thr344LeufsTer13) n.1359del c.753del (p.Thr252LeufsTer13) c.1323del (p.Thr442LeufsTer13) c.1230del (p.Thr411LeufsTer13) c.1143del (p.Thr382LeufsTer13) n.1370del | ClinVar |
| 22 | g.28695771C>A | CA411096780 | CHEK2 | c.1009-529G>T (n.1009-529G>T) c.997G>T (p.Gly333Trp) c.1198G>T (p.Gly400Trp) c.535G>T (p.Gly179Trp) c.538G>T (p.Gly180Trp) n.750G>T c.1111G>T (p.Gly371Trp) c.1327G>T (p.Gly443Trp) c.925G>T (p.Gly309Trp) c.*688G>T (n.*688G>T) c.1107G>T (n.1107G>T) c.1136G>T (n.1136G>T) c.429G>T c.1088G>T (n.1088G>T) c.263+4067G>T c.718G>T (p.Gly240Trp) c.655G>T (p.Gly219Trp) c.1357G>T (p.Gly453Trp) c.1270G>T (p.Gly424Trp) c.1126G>T (p.Gly376Trp) c.1027G>T (p.Gly343Trp) n.1357G>T c.751G>T (p.Gly251Trp) c.1321G>T (p.Gly441Trp) c.1228G>T (p.Gly410Trp) c.1141G>T (p.Gly381Trp) n.1368G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28695771C= | CA2400238285 | CHEK2 | c.1009-529G= (n.1009-529G=) c.997G= (p.Gly333=) c.1198G= (p.Gly400=) c.535G= (p.Gly179=) c.538G= (p.Gly180=) n.750G= c.1111G= (p.Gly371=) c.1327G= (p.Gly443=) c.925G= (p.Gly309=) c.*688G= (n.*688G=) c.1107G= (n.1107G=) c.1136G= (n.1136G=) c.429G= c.1088G= (n.1088G=) c.263+4067G= c.718G= (p.Gly240=) c.655G= (p.Gly219=) c.1357G= (p.Gly453=) c.1270G= (p.Gly424=) c.1126G= (p.Gly376=) c.1027G= (p.Gly343=) n.1357G= c.751G= (p.Gly251=) c.1321G= (p.Gly441=) c.1228G= (p.Gly410=) c.1141G= (p.Gly381=) n.1368G= | |
| 22 | g.28695771C>G | CA411096781 | CHEK2 | c.1009-529G>C (n.1009-529G>C) c.997G>C (p.Gly333Arg) c.1198G>C (p.Gly400Arg) c.535G>C (p.Gly179Arg) c.538G>C (p.Gly180Arg) n.750G>C c.1111G>C (p.Gly371Arg) c.1327G>C (p.Gly443Arg) c.925G>C (p.Gly309Arg) c.*688G>C (n.*688G>C) c.1107G>C (n.1107G>C) c.1136G>C (n.1136G>C) c.429G>C c.1088G>C (n.1088G>C) c.263+4067G>C c.718G>C (p.Gly240Arg) c.655G>C (p.Gly219Arg) c.1357G>C (p.Gly453Arg) c.1270G>C (p.Gly424Arg) c.1126G>C (p.Gly376Arg) c.1027G>C (p.Gly343Arg) n.1357G>C c.751G>C (p.Gly251Arg) c.1321G>C (p.Gly441Arg) c.1228G>C (p.Gly410Arg) c.1141G>C (p.Gly381Arg) n.1368G>C | dbSNP |
| 22 | g.28695771C>T | CA411096782 | CHEK2 | c.1009-529G>A (n.1009-529G>A) c.997G>A (p.Gly333Arg) c.1198G>A (p.Gly400Arg) c.535G>A (p.Gly179Arg) c.538G>A (p.Gly180Arg) n.750G>A c.1111G>A (p.Gly371Arg) c.1327G>A (p.Gly443Arg) c.925G>A (p.Gly309Arg) c.*688G>A (n.*688G>A) c.1107G>A (n.1107G>A) c.1136G>A (n.1136G>A) c.429G>A c.1088G>A (n.1088G>A) c.263+4067G>A c.718G>A (p.Gly240Arg) c.655G>A (p.Gly219Arg) c.1357G>A (p.Gly453Arg) c.1270G>A (p.Gly424Arg) c.1126G>A (p.Gly376Arg) c.1027G>A (p.Gly343Arg) n.1357G>A c.751G>A (p.Gly251Arg) c.1321G>A (p.Gly441Arg) c.1228G>A (p.Gly410Arg) c.1141G>A (p.Gly381Arg) n.1368G>A | dbSNP |
| 22 | g.28695771_28695772delinsCA | CA2400238284 | CHEK2 | c.1009-530_1009-529delinsTG (n.1009-530_1009-529delinsTG) c.996_997delinsTG (p.Val332=) c.1197_1198delinsTG (p.Val399=) c.534_535delinsTG (p.Val178=) c.537_538delinsTG (p.Val179=) n.749_750delinsTG c.1110_1111delinsTG (p.Val370=) c.1326_1327delinsTG (p.Val442=) c.924_925delinsTG (p.Val308=) c.*687_*688delinsTG (n.*687_*688delinsTG) c.1106_1107delinsTG (n.1106_1107delinsTG) c.1135_1136delinsTG (n.1135_1136delinsTG) c.428_429delinsTG c.1087_1088delinsTG (n.1087_1088delinsTG) c.263+4066_263+4067delinsTG c.717_718delinsTG (p.Val239=) c.654_655delinsTG (p.Val218=) c.1356_1357delinsTG (p.Val452=) c.1269_1270delinsTG (p.Val423=) c.1125_1126delinsTG (p.Val375=) c.1026_1027delinsTG (p.Val342=) n.1356_1357delinsTG c.750_751delinsTG (p.Val250=) c.1320_1321delinsTG (p.Val440=) c.1227_1228delinsTG (p.Val409=) c.1140_1141delinsTG (p.Val380=) n.1367_1368delinsTG | |
| 22 | g.28695772A= | CA2400238286 | CHEK2 | c.1009-530T= (n.1009-530T=) c.996T= (p.Val332=) c.1197T= (p.Val399=) c.534T= (p.Val178=) c.537T= (p.Val179=) n.749T= c.1110T= (p.Val370=) c.1326T= (p.Val442=) c.924T= (p.Val308=) c.*687T= (n.*687T=) c.1106T= (n.1106T=) c.1135T= (n.1135T=) c.428T= c.1087T= (n.1087T=) c.263+4066T= c.717T= (p.Val239=) c.654T= (p.Val218=) c.1356T= (p.Val452=) c.1269T= (p.Val423=) c.1125T= (p.Val375=) c.1026T= (p.Val342=) n.1356T= c.750T= (p.Val250=) c.1320T= (p.Val440=) c.1227T= (p.Val409=) c.1140T= (p.Val380=) n.1367T= | |
| 22 | g.28695772A>C | CA513944889 | CHEK2 | c.1009-530T>G (n.1009-530T>G) c.996T>G (p.Val332=) c.1197T>G (p.Val399=) c.534T>G (p.Val178=) c.537T>G (p.Val179=) n.749T>G c.1110T>G (p.Val370=) c.1326T>G (p.Val442=) c.924T>G (p.Val308=) c.*687T>G (n.*687T>G) c.1106T>G (n.1106T>G) c.1135T>G (n.1135T>G) c.428T>G c.1087T>G (n.1087T>G) c.263+4066T>G c.717T>G (p.Val239=) c.654T>G (p.Val218=) c.1356T>G (p.Val452=) c.1269T>G (p.Val423=) c.1125T>G (p.Val375=) c.1026T>G (p.Val342=) n.1356T>G c.750T>G (p.Val250=) c.1320T>G (p.Val440=) c.1227T>G (p.Val409=) c.1140T>G (p.Val380=) n.1367T>G | |
| 22 | g.28695772A>G | CA16608603 | CHEK2 | c.1009-530T>C (n.1009-530T>C) c.996T>C (p.Val332=) c.1197T>C (p.Val399=) c.534T>C (p.Val178=) c.537T>C (p.Val179=) n.749T>C c.1110T>C (p.Val370=) c.1326T>C (p.Val442=) c.924T>C (p.Val308=) c.*687T>C (n.*687T>C) c.1106T>C (n.1106T>C) c.1135T>C (n.1135T>C) c.428T>C c.1087T>C (n.1087T>C) c.263+4066T>C c.717T>C (p.Val239=) c.654T>C (p.Val218=) c.1356T>C (p.Val452=) c.1269T>C (p.Val423=) c.1125T>C (p.Val375=) c.1026T>C (p.Val342=) n.1356T>C c.750T>C (p.Val250=) c.1320T>C (p.Val440=) c.1227T>C (p.Val409=) c.1140T>C (p.Val380=) n.1367T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.28695772A>T | CA513944890 | CHEK2 | c.1009-530T>A (n.1009-530T>A) c.996T>A (p.Val332=) c.1197T>A (p.Val399=) c.534T>A (p.Val178=) c.537T>A (p.Val179=) n.749T>A c.1110T>A (p.Val370=) c.1326T>A (p.Val442=) c.924T>A (p.Val308=) c.*687T>A (n.*687T>A) c.1106T>A (n.1106T>A) c.1135T>A (n.1135T>A) c.428T>A c.1087T>A (n.1087T>A) c.263+4066T>A c.717T>A (p.Val239=) c.654T>A (p.Val218=) c.1356T>A (p.Val452=) c.1269T>A (p.Val423=) c.1125T>A (p.Val375=) c.1026T>A (p.Val342=) n.1356T>A c.750T>A (p.Val250=) c.1320T>A (p.Val440=) c.1227T>A (p.Val409=) c.1140T>A (p.Val380=) n.1367T>A | dbSNP |
| 22 | g.28695773dup | CA638954334 | CHEK2 | c.1009-530dup (n.1009-530dup) c.996dup (p.Gly333TrpfsTer6) c.1197dup (p.Gly400TrpfsTer6) c.534dup (p.Gly179TrpfsTer6) c.537dup (p.Gly180TrpfsTer6) n.749dup c.1110dup (p.Gly371TrpfsTer6) c.1326dup (p.Gly443TrpfsTer6) c.924dup (p.Gly309TrpfsTer6) c.*687dup (n.*687dup) c.1106dup (n.1106dup) c.1135dup (n.1135dup) c.428dup c.1087dup (n.1087dup) c.263+4066dup c.717dup (p.Gly240TrpfsTer6) c.654dup (p.Gly219TrpfsTer6) c.1356dup (p.Gly453TrpfsTer6) c.1269dup (p.Gly424TrpfsTer6) c.1125dup (p.Gly376TrpfsTer6) c.1026dup (p.Gly343TrpfsTer6) n.1356dup c.750dup (p.Gly251TrpfsTer6) c.1320dup (p.Gly441TrpfsTer6) c.1227dup (p.Gly410TrpfsTer6) c.1140dup (p.Gly381TrpfsTer6) n.1367dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.28695773del | CA10581047 | CHEK2 | c.1009-530del (n.1009-530del) c.996del (p.Thr334LeufsTer13) c.1197del (p.Thr401LeufsTer13) c.534del (p.Thr180LeufsTer13) c.537del (p.Thr181LeufsTer13) n.749del c.1110del (p.Thr372LeufsTer13) c.1326del (p.Thr444LeufsTer13) c.924del (p.Thr310LeufsTer13) c.*687del (n.*687del) c.1106del (n.1106del) c.1135del (n.1135del) c.428del c.1087del (n.1087del) c.263+4066del c.717del (p.Thr241LeufsTer13) c.654del (p.Thr220LeufsTer13) c.1356del (p.Thr454LeufsTer13) c.1269del (p.Thr425LeufsTer13) c.1125del (p.Thr377LeufsTer13) c.1026del (p.Thr344LeufsTer13) n.1356del c.750del (p.Thr252LeufsTer13) c.1320del (p.Thr442LeufsTer13) c.1227del (p.Thr411LeufsTer13) c.1140del (p.Thr382LeufsTer13) n.1367del | ClinVar dbSNP |
| 22 | g.28695774_28695778del | CA2697552656 | CHEK2 | c.1009-534_1009-530del (n.1009-534_1009-530del) c.992_996del (p.Ser331TrpfsTer6) c.1193_1197del (p.Ser398TrpfsTer6) c.530_534del (p.Ser177TrpfsTer6) c.533_537del (p.Ser178TrpfsTer6) n.745_749del c.1106_1110del (p.Ser369TrpfsTer6) c.1322_1326del (p.Ser441TrpfsTer6) c.920_924del (p.Ser307TrpfsTer6) c.*683_*687del (n.*683_*687del) c.1102_1106del (n.1102_1106del) c.1131_1135del (n.1131_1135del) c.424_428del c.1083_1087del (n.1083_1087del) c.263+4062_263+4066del c.713_717del (p.Ser238TrpfsTer6) c.650_654del (p.Ser217TrpfsTer6) c.1352_1356del (p.Ser451TrpfsTer6) c.1265_1269del (p.Ser422TrpfsTer6) c.1121_1125del (p.Ser374TrpfsTer6) c.1022_1026del (p.Ser341TrpfsTer6) n.1352_1356del c.746_750del (p.Ser249TrpfsTer6) c.1316_1320del (p.Ser439TrpfsTer6) c.1223_1227del (p.Ser408TrpfsTer6) c.1136_1140del (p.Ser379TrpfsTer6) n.1363_1367del | ClinVar |
| 22 | g.28695773A= | CA2400238287 | CHEK2 | c.1009-531T= (n.1009-531T=) c.995T= (p.Val332=) c.1196T= (p.Val399=) c.533T= (p.Val178=) c.536T= (p.Val179=) n.748T= c.1109T= (p.Val370=) c.1325T= (p.Val442=) c.923T= (p.Val308=) c.*686T= (n.*686T=) c.1105T= (n.1105T=) c.1134T= (n.1134T=) c.427T= c.1086T= (n.1086T=) c.263+4065T= c.716T= (p.Val239=) c.653T= (p.Val218=) c.1355T= (p.Val452=) c.1268T= (p.Val423=) c.1124T= (p.Val375=) c.1025T= (p.Val342=) n.1355T= c.749T= (p.Val250=) c.1319T= (p.Val440=) c.1226T= (p.Val409=) c.1139T= (p.Val380=) n.1366T= | |
| 22 | g.28695773A>C | CA16621054 | CHEK2 | c.1009-531T>G (n.1009-531T>G) c.995T>G (p.Val332Gly) c.1196T>G (p.Val399Gly) c.533T>G (p.Val178Gly) c.536T>G (p.Val179Gly) n.748T>G c.1109T>G (p.Val370Gly) c.1325T>G (p.Val442Gly) c.923T>G (p.Val308Gly) c.*686T>G (n.*686T>G) c.1105T>G (n.1105T>G) c.1134T>G (n.1134T>G) c.427T>G c.1086T>G (n.1086T>G) c.263+4065T>G c.716T>G (p.Val239Gly) c.653T>G (p.Val218Gly) c.1355T>G (p.Val452Gly) c.1268T>G (p.Val423Gly) c.1124T>G (p.Val375Gly) c.1025T>G (p.Val342Gly) n.1355T>G c.749T>G (p.Val250Gly) c.1319T>G (p.Val440Gly) c.1226T>G (p.Val409Gly) c.1139T>G (p.Val380Gly) n.1366T>G | ClinVar dbSNP |
| 22 | g.28695773A>G | CA411096783 | CHEK2 | c.1009-531T>C (n.1009-531T>C) c.995T>C (p.Val332Ala) c.1196T>C (p.Val399Ala) c.533T>C (p.Val178Ala) c.536T>C (p.Val179Ala) n.748T>C c.1109T>C (p.Val370Ala) c.1325T>C (p.Val442Ala) c.923T>C (p.Val308Ala) c.*686T>C (n.*686T>C) c.1105T>C (n.1105T>C) c.1134T>C (n.1134T>C) c.427T>C c.1086T>C (n.1086T>C) c.263+4065T>C c.716T>C (p.Val239Ala) c.653T>C (p.Val218Ala) c.1355T>C (p.Val452Ala) c.1268T>C (p.Val423Ala) c.1124T>C (p.Val375Ala) c.1025T>C (p.Val342Ala) n.1355T>C c.749T>C (p.Val250Ala) c.1319T>C (p.Val440Ala) c.1226T>C (p.Val409Ala) c.1139T>C (p.Val380Ala) n.1366T>C | dbSNP |
| 22 | g.28695773A>T | CA10167712 | CHEK2 | c.1009-531T>A (n.1009-531T>A) c.995T>A (p.Val332Asp) c.1196T>A (p.Val399Asp) c.533T>A (p.Val178Asp) c.536T>A (p.Val179Asp) n.748T>A c.1109T>A (p.Val370Asp) c.1325T>A (p.Val442Asp) c.923T>A (p.Val308Asp) c.*686T>A (n.*686T>A) c.1105T>A (n.1105T>A) c.1134T>A (n.1134T>A) c.427T>A c.1086T>A (n.1086T>A) c.263+4065T>A c.716T>A (p.Val239Asp) c.653T>A (p.Val218Asp) c.1355T>A (p.Val452Asp) c.1268T>A (p.Val423Asp) c.1124T>A (p.Val375Asp) c.1025T>A (p.Val342Asp) n.1355T>A c.749T>A (p.Val250Asp) c.1319T>A (p.Val440Asp) c.1226T>A (p.Val409Asp) c.1139T>A (p.Val380Asp) n.1366T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28695774C>A | CA411096785 | CHEK2 | c.1009-532G>T (n.1009-532G>T) c.994G>T (p.Val332Phe) c.1195G>T (p.Val399Phe) c.532G>T (p.Val178Phe) c.535G>T (p.Val179Phe) n.747G>T c.1108G>T (p.Val370Phe) c.1324G>T (p.Val442Phe) c.922G>T (p.Val308Phe) c.*685G>T (n.*685G>T) c.1104G>T (n.1104G>T) c.1133G>T (n.1133G>T) c.426G>T c.1085G>T (n.1085G>T) c.263+4064G>T c.715G>T (p.Val239Phe) c.652G>T (p.Val218Phe) c.1354G>T (p.Val452Phe) c.1267G>T (p.Val423Phe) c.1123G>T (p.Val375Phe) c.1024G>T (p.Val342Phe) n.1354G>T c.748G>T (p.Val250Phe) c.1318G>T (p.Val440Phe) c.1225G>T (p.Val409Phe) c.1138G>T (p.Val380Phe) n.1365G>T | ClinVar dbSNP |
| 22 | g.28695774C= | CA2400238288 | CHEK2 | c.1009-532G= (n.1009-532G=) c.994G= (p.Val332=) c.1195G= (p.Val399=) c.532G= (p.Val178=) c.535G= (p.Val179=) n.747G= c.1108G= (p.Val370=) c.1324G= (p.Val442=) c.922G= (p.Val308=) c.*685G= (n.*685G=) c.1104G= (n.1104G=) c.1133G= (n.1133G=) c.426G= c.1085G= (n.1085G=) c.263+4064G= c.715G= (p.Val239=) c.652G= (p.Val218=) c.1354G= (p.Val452=) c.1267G= (p.Val423=) c.1123G= (p.Val375=) c.1024G= (p.Val342=) n.1354G= c.748G= (p.Val250=) c.1318G= (p.Val440=) c.1225G= (p.Val409=) c.1138G= (p.Val380=) n.1365G= | |
| 22 | g.28695774C>G | CA411096784 | CHEK2 | c.1009-532G>C (n.1009-532G>C) c.994G>C (p.Val332Leu) c.1195G>C (p.Val399Leu) c.532G>C (p.Val178Leu) c.535G>C (p.Val179Leu) n.747G>C c.1108G>C (p.Val370Leu) c.1324G>C (p.Val442Leu) c.922G>C (p.Val308Leu) c.*685G>C (n.*685G>C) c.1104G>C (n.1104G>C) c.1133G>C (n.1133G>C) c.426G>C c.1085G>C (n.1085G>C) c.263+4064G>C c.715G>C (p.Val239Leu) c.652G>C (p.Val218Leu) c.1354G>C (p.Val452Leu) c.1267G>C (p.Val423Leu) c.1123G>C (p.Val375Leu) c.1024G>C (p.Val342Leu) n.1354G>C c.748G>C (p.Val250Leu) c.1318G>C (p.Val440Leu) c.1225G>C (p.Val409Leu) c.1138G>C (p.Val380Leu) n.1365G>C | dbSNP |
| 22 | g.28695774C>T | CA10581048 | CHEK2 | c.1009-532G>A (n.1009-532G>A) c.994G>A (p.Val332Ile) c.1195G>A (p.Val399Ile) c.532G>A (p.Val178Ile) c.535G>A (p.Val179Ile) n.747G>A c.1108G>A (p.Val370Ile) c.1324G>A (p.Val442Ile) c.922G>A (p.Val308Ile) c.*685G>A (n.*685G>A) c.1104G>A (n.1104G>A) c.1133G>A (n.1133G>A) c.426G>A c.1085G>A (n.1085G>A) c.263+4064G>A c.715G>A (p.Val239Ile) c.652G>A (p.Val218Ile) c.1354G>A (p.Val452Ile) c.1267G>A (p.Val423Ile) c.1123G>A (p.Val375Ile) c.1024G>A (p.Val342Ile) n.1354G>A c.748G>A (p.Val250Ile) c.1318G>A (p.Val440Ile) c.1225G>A (p.Val409Ile) c.1138G>A (p.Val380Ile) n.1365G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.28695775A>C | CA513944892 | CHEK2 | c.1009-533T>G (n.1009-533T>G) c.993T>G (p.Ser331=) c.1194T>G (p.Ser398=) c.531T>G (p.Ser177=) c.534T>G (p.Ser178=) n.746T>G c.1107T>G (p.Ser369=) c.1323T>G (p.Ser441=) c.921T>G (p.Ser307=) c.*684T>G (n.*684T>G) c.1103T>G (n.1103T>G) c.1132T>G (n.1132T>G) c.425T>G c.1084T>G (n.1084T>G) c.263+4063T>G c.714T>G (p.Ser238=) c.651T>G (p.Ser217=) c.1353T>G (p.Ser451=) c.1266T>G (p.Ser422=) c.1122T>G (p.Ser374=) c.1023T>G (p.Ser341=) n.1353T>G c.747T>G (p.Ser249=) c.1317T>G (p.Ser439=) c.1224T>G (p.Ser408=) c.1137T>G (p.Ser379=) n.1364T>G | |
| 22 | g.28695775A>G | CA513944893 | CHEK2 | c.1009-533T>C (n.1009-533T>C) c.993T>C (p.Ser331=) c.1194T>C (p.Ser398=) c.531T>C (p.Ser177=) c.534T>C (p.Ser178=) n.746T>C c.1107T>C (p.Ser369=) c.1323T>C (p.Ser441=) c.921T>C (p.Ser307=) c.*684T>C (n.*684T>C) c.1103T>C (n.1103T>C) c.1132T>C (n.1132T>C) c.425T>C c.1084T>C (n.1084T>C) c.263+4063T>C c.714T>C (p.Ser238=) c.651T>C (p.Ser217=) c.1353T>C (p.Ser451=) c.1266T>C (p.Ser422=) c.1122T>C (p.Ser374=) c.1023T>C (p.Ser341=) n.1353T>C c.747T>C (p.Ser249=) c.1317T>C (p.Ser439=) c.1224T>C (p.Ser408=) c.1137T>C (p.Ser379=) n.1364T>C | dbSNP |
| 22 | g.28695775A>T | CA513944891 | CHEK2 | c.1009-533T>A (n.1009-533T>A) c.993T>A (p.Ser331=) c.1194T>A (p.Ser398=) c.531T>A (p.Ser177=) c.534T>A (p.Ser178=) n.746T>A c.1107T>A (p.Ser369=) c.1323T>A (p.Ser441=) c.921T>A (p.Ser307=) c.*684T>A (n.*684T>A) c.1103T>A (n.1103T>A) c.1132T>A (n.1132T>A) c.425T>A c.1084T>A (n.1084T>A) c.263+4063T>A c.714T>A (p.Ser238=) c.651T>A (p.Ser217=) c.1353T>A (p.Ser451=) c.1266T>A (p.Ser422=) c.1122T>A (p.Ser374=) c.1023T>A (p.Ser341=) n.1353T>A c.747T>A (p.Ser249=) c.1317T>A (p.Ser439=) c.1224T>A (p.Ser408=) c.1137T>A (p.Ser379=) n.1364T>A | dbSNP |
| 22 | g.28695775_28695776delinsAG | CA2400238289 | CHEK2 | c.1009-534_1009-533delinsCT (n.1009-534_1009-533delinsCT) c.992_993delinsCT (p.Ser331=) c.1193_1194delinsCT (p.Ser398=) c.530_531delinsCT (p.Ser177=) c.533_534delinsCT (p.Ser178=) n.745_746delinsCT c.1106_1107delinsCT (p.Ser369=) c.1322_1323delinsCT (p.Ser441=) c.920_921delinsCT (p.Ser307=) c.*683_*684delinsCT (n.*683_*684delinsCT) c.1102_1103delinsCT (n.1102_1103delinsCT) c.1131_1132delinsCT (n.1131_1132delinsCT) c.424_425delinsCT c.1083_1084delinsCT (n.1083_1084delinsCT) c.263+4062_263+4063delinsCT c.713_714delinsCT (p.Ser238=) c.650_651delinsCT (p.Ser217=) c.1352_1353delinsCT (p.Ser451=) c.1265_1266delinsCT (p.Ser422=) c.1121_1122delinsCT (p.Ser374=) c.1022_1023delinsCT (p.Ser341=) n.1352_1353delinsCT c.746_747delinsCT (p.Ser249=) c.1316_1317delinsCT (p.Ser439=) c.1223_1224delinsCT (p.Ser408=) c.1136_1137delinsCT (p.Ser379=) n.1363_1364delinsCT | |
| 22 | g.28695779_28695785dup | CA891844287 | CHEK2 | c.1009-539_1009-533dup (n.1009-539_1009-533dup) c.987_993dup (p.Val332CysfsTer9) c.1188_1194dup (p.Val399CysfsTer9) c.525_531dup (p.Val178CysfsTer9) c.528_534dup (p.Val179CysfsTer9) n.740_746dup c.1101_1107dup (p.Val370CysfsTer9) c.1317_1323dup (p.Val442CysfsTer9) c.915_921dup (p.Val308CysfsTer9) c.*678_*684dup (n.*678_*684dup) c.1097_1103dup (n.1097_1103dup) c.1126_1132dup (n.1126_1132dup) c.419_425dup c.1078_1084dup (n.1078_1084dup) c.263+4057_263+4063dup c.708_714dup (p.Val239CysfsTer9) c.645_651dup (p.Val218CysfsTer9) c.1347_1353dup (p.Val452CysfsTer9) c.1260_1266dup (p.Val423CysfsTer9) c.1116_1122dup (p.Val375CysfsTer9) c.1017_1023dup (p.Val342CysfsTer9) n.1347_1353dup c.741_747dup (p.Val250CysfsTer9) c.1311_1317dup (p.Val440CysfsTer9) c.1218_1224dup (p.Val409CysfsTer9) c.1131_1137dup (p.Val380CysfsTer9) n.1358_1364dup | ClinVar dbSNP |
| 22 | g.28695776del | CA1139667019 | CHEK2 | c.1009-534del (n.1009-534del) c.992del (p.Ser331LeufsTer16) c.1193del (p.Ser398LeufsTer16) c.530del (p.Ser177LeufsTer16) c.533del (p.Ser178LeufsTer16) n.745del c.1106del (p.Ser369LeufsTer16) c.1322del (p.Ser441LeufsTer16) c.920del (p.Ser307LeufsTer16) c.*683del (n.*683del) c.1102del (n.1102del) c.1131del (n.1131del) c.424del c.1083del (n.1083del) c.263+4062del c.713del (p.Ser238LeufsTer16) c.650del (p.Ser217LeufsTer16) c.1352del (p.Ser451LeufsTer16) c.1265del (p.Ser422LeufsTer16) c.1121del (p.Ser374LeufsTer16) c.1022del (p.Ser341LeufsTer16) n.1352del c.746del (p.Ser249LeufsTer16) c.1316del (p.Ser439LeufsTer16) c.1223del (p.Ser408LeufsTer16) c.1136del (p.Ser379LeufsTer16) n.1363del | ClinVar dbSNP |
| 22 | g.28695776G>A | CA411096787 | CHEK2 | c.1009-534C>T (n.1009-534C>T) c.992C>T (p.Ser331Phe) c.1193C>T (p.Ser398Phe) c.530C>T (p.Ser177Phe) c.533C>T (p.Ser178Phe) n.745C>T c.1106C>T (p.Ser369Phe) c.1322C>T (p.Ser441Phe) c.920C>T (p.Ser307Phe) c.*683C>T (n.*683C>T) c.1102C>T (n.1102C>T) c.1131C>T (n.1131C>T) c.424C>T c.1083C>T (n.1083C>T) c.263+4062C>T c.713C>T (p.Ser238Phe) c.650C>T (p.Ser217Phe) c.1352C>T (p.Ser451Phe) c.1265C>T (p.Ser422Phe) c.1121C>T (p.Ser374Phe) c.1022C>T (p.Ser341Phe) n.1352C>T c.746C>T (p.Ser249Phe) c.1316C>T (p.Ser439Phe) c.1223C>T (p.Ser408Phe) c.1136C>T (p.Ser379Phe) n.1363C>T | ClinVar dbSNP |
| 22 | g.28695776G>C | CA411096786 | CHEK2 | c.1009-534C>G (n.1009-534C>G) c.992C>G (p.Ser331Cys) c.1193C>G (p.Ser398Cys) c.530C>G (p.Ser177Cys) c.533C>G (p.Ser178Cys) n.745C>G c.1106C>G (p.Ser369Cys) c.1322C>G (p.Ser441Cys) c.920C>G (p.Ser307Cys) c.*683C>G (n.*683C>G) c.1102C>G (n.1102C>G) c.1131C>G (n.1131C>G) c.424C>G c.1083C>G (n.1083C>G) c.263+4062C>G c.713C>G (p.Ser238Cys) c.650C>G (p.Ser217Cys) c.1352C>G (p.Ser451Cys) c.1265C>G (p.Ser422Cys) c.1121C>G (p.Ser374Cys) c.1022C>G (p.Ser341Cys) n.1352C>G c.746C>G (p.Ser249Cys) c.1316C>G (p.Ser439Cys) c.1223C>G (p.Ser408Cys) c.1136C>G (p.Ser379Cys) n.1363C>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.28695776G= | CA2400238290 | CHEK2 | c.1009-534C= (n.1009-534C=) c.992C= (p.Ser331=) c.1193C= (p.Ser398=) c.530C= (p.Ser177=) c.533C= (p.Ser178=) n.745C= c.1106C= (p.Ser369=) c.1322C= (p.Ser441=) c.920C= (p.Ser307=) c.*683C= (n.*683C=) c.1102C= (n.1102C=) c.1131C= (n.1131C=) c.424C= c.1083C= (n.1083C=) c.263+4062C= c.713C= (p.Ser238=) c.650C= (p.Ser217=) c.1352C= (p.Ser451=) c.1265C= (p.Ser422=) c.1121C= (p.Ser374=) c.1022C= (p.Ser341=) n.1352C= c.746C= (p.Ser249=) c.1316C= (p.Ser439=) c.1223C= (p.Ser408=) c.1136C= (p.Ser379=) n.1363C= | |
| 22 | g.28695776G>T | CA411096788 | CHEK2 | c.1009-534C>A (n.1009-534C>A) c.992C>A (p.Ser331Tyr) c.1193C>A (p.Ser398Tyr) c.530C>A (p.Ser177Tyr) c.533C>A (p.Ser178Tyr) n.745C>A c.1106C>A (p.Ser369Tyr) c.1322C>A (p.Ser441Tyr) c.920C>A (p.Ser307Tyr) c.*683C>A (n.*683C>A) c.1102C>A (n.1102C>A) c.1131C>A (n.1131C>A) c.424C>A c.1083C>A (n.1083C>A) c.263+4062C>A c.713C>A (p.Ser238Tyr) c.650C>A (p.Ser217Tyr) c.1352C>A (p.Ser451Tyr) c.1265C>A (p.Ser422Tyr) c.1121C>A (p.Ser374Tyr) c.1022C>A (p.Ser341Tyr) n.1352C>A c.746C>A (p.Ser249Tyr) c.1316C>A (p.Ser439Tyr) c.1223C>A (p.Ser408Tyr) c.1136C>A (p.Ser379Tyr) n.1363C>A | ClinVar |
| 22 | g.28695777A>C | CA411096789 | CHEK2 | c.1009-535T>G (n.1009-535T>G) c.991T>G (p.Ser331Ala) c.1192T>G (p.Ser398Ala) c.529T>G (p.Ser177Ala) c.532T>G (p.Ser178Ala) n.744T>G c.1105T>G (p.Ser369Ala) c.1321T>G (p.Ser441Ala) c.919T>G (p.Ser307Ala) c.*682T>G (n.*682T>G) c.1101T>G (n.1101T>G) c.1130T>G (n.1130T>G) c.423T>G c.1082T>G (n.1082T>G) c.263+4061T>G c.712T>G (p.Ser238Ala) c.649T>G (p.Ser217Ala) c.1351T>G (p.Ser451Ala) c.1264T>G (p.Ser422Ala) c.1120T>G (p.Ser374Ala) c.1021T>G (p.Ser341Ala) n.1351T>G c.745T>G (p.Ser249Ala) c.1315T>G (p.Ser439Ala) c.1222T>G (p.Ser408Ala) c.1135T>G (p.Ser379Ala) n.1362T>G | |
| 22 | g.28695777A>G | CA411096790 | CHEK2 | c.1009-535T>C (n.1009-535T>C) c.991T>C (p.Ser331Pro) c.1192T>C (p.Ser398Pro) c.529T>C (p.Ser177Pro) c.532T>C (p.Ser178Pro) n.744T>C c.1105T>C (p.Ser369Pro) c.1321T>C (p.Ser441Pro) c.919T>C (p.Ser307Pro) c.*682T>C (n.*682T>C) c.1101T>C (n.1101T>C) c.1130T>C (n.1130T>C) c.423T>C c.1082T>C (n.1082T>C) c.263+4061T>C c.712T>C (p.Ser238Pro) c.649T>C (p.Ser217Pro) c.1351T>C (p.Ser451Pro) c.1264T>C (p.Ser422Pro) c.1120T>C (p.Ser374Pro) c.1021T>C (p.Ser341Pro) n.1351T>C c.745T>C (p.Ser249Pro) c.1315T>C (p.Ser439Pro) c.1222T>C (p.Ser408Pro) c.1135T>C (p.Ser379Pro) n.1362T>C | ClinVar dbSNP |
| 22 | g.28695777A>T | CA411096791 | CHEK2 | c.1009-535T>A (n.1009-535T>A) c.991T>A (p.Ser331Thr) c.1192T>A (p.Ser398Thr) c.529T>A (p.Ser177Thr) c.532T>A (p.Ser178Thr) n.744T>A c.1105T>A (p.Ser369Thr) c.1321T>A (p.Ser441Thr) c.919T>A (p.Ser307Thr) c.*682T>A (n.*682T>A) c.1101T>A (n.1101T>A) c.1130T>A (n.1130T>A) c.423T>A c.1082T>A (n.1082T>A) c.263+4061T>A c.712T>A (p.Ser238Thr) c.649T>A (p.Ser217Thr) c.1351T>A (p.Ser451Thr) c.1264T>A (p.Ser422Thr) c.1120T>A (p.Ser374Thr) c.1021T>A (p.Ser341Thr) n.1351T>A c.745T>A (p.Ser249Thr) c.1315T>A (p.Ser439Thr) c.1222T>A (p.Ser408Thr) c.1135T>A (p.Ser379Thr) n.1362T>A | |
| 22 | g.28695779dup | CA2580099500 | CHEK2 | c.1009-535dup (n.1009-535dup) c.991dup (p.Ser331PhefsTer8) c.1192dup (p.Ser398PhefsTer8) c.529dup (p.Ser177PhefsTer8) c.532dup (p.Ser178PhefsTer8) n.744dup c.1105dup (p.Ser369PhefsTer8) c.1321dup (p.Ser441PhefsTer8) c.919dup (p.Ser307PhefsTer8) c.*682dup (n.*682dup) c.1101dup (n.1101dup) c.1130dup (n.1130dup) c.423dup c.1082dup (n.1082dup) c.263+4061dup c.712dup (p.Ser238PhefsTer8) c.649dup (p.Ser217PhefsTer8) c.1351dup (p.Ser451PhefsTer8) c.1264dup (p.Ser422PhefsTer8) c.1120dup (p.Ser374PhefsTer8) c.1021dup (p.Ser341PhefsTer8) n.1351dup c.745dup (p.Ser249PhefsTer8) c.1315dup (p.Ser439PhefsTer8) c.1222dup (p.Ser408PhefsTer8) c.1135dup (p.Ser379PhefsTer8) n.1362dup | ClinVar |
| 22 | g.28695778A>C | CA513944894 | CHEK2 | c.1009-536T>G (n.1009-536T>G) c.990T>G (p.Val330=) c.1191T>G (p.Val397=) c.528T>G (p.Val176=) c.531T>G (p.Val177=) n.743T>G c.1104T>G (p.Val368=) c.1320T>G (p.Val440=) c.918T>G (p.Val306=) c.*681T>G (n.*681T>G) c.1100T>G (n.1100T>G) c.1129T>G (n.1129T>G) c.422T>G c.1081T>G (n.1081T>G) c.263+4060T>G c.711T>G (p.Val237=) c.648T>G (p.Val216=) c.1350T>G (p.Val450=) c.1263T>G (p.Val421=) c.1119T>G (p.Val373=) c.1020T>G (p.Val340=) n.1350T>G c.744T>G (p.Val248=) c.1314T>G (p.Val438=) c.1221T>G (p.Val407=) c.1134T>G (p.Val378=) n.1361T>G | |
| 22 | g.28695778A>G | CA513944895 | CHEK2 | c.1009-536T>C (n.1009-536T>C) c.990T>C (p.Val330=) c.1191T>C (p.Val397=) c.528T>C (p.Val176=) c.531T>C (p.Val177=) n.743T>C c.1104T>C (p.Val368=) c.1320T>C (p.Val440=) c.918T>C (p.Val306=) c.*681T>C (n.*681T>C) c.1100T>C (n.1100T>C) c.1129T>C (n.1129T>C) c.422T>C c.1081T>C (n.1081T>C) c.263+4060T>C c.711T>C (p.Val237=) c.648T>C (p.Val216=) c.1350T>C (p.Val450=) c.1263T>C (p.Val421=) c.1119T>C (p.Val373=) c.1020T>C (p.Val340=) n.1350T>C c.744T>C (p.Val248=) c.1314T>C (p.Val438=) c.1221T>C (p.Val407=) c.1134T>C (p.Val378=) n.1361T>C | |
| 22 | g.28695778A>T | CA513944896 | CHEK2 | c.1009-536T>A (n.1009-536T>A) c.990T>A (p.Val330=) c.1191T>A (p.Val397=) c.528T>A (p.Val176=) c.531T>A (p.Val177=) n.743T>A c.1104T>A (p.Val368=) c.1320T>A (p.Val440=) c.918T>A (p.Val306=) c.*681T>A (n.*681T>A) c.1100T>A (n.1100T>A) c.1129T>A (n.1129T>A) c.422T>A c.1081T>A (n.1081T>A) c.263+4060T>A c.711T>A (p.Val237=) c.648T>A (p.Val216=) c.1350T>A (p.Val450=) c.1263T>A (p.Val421=) c.1119T>A (p.Val373=) c.1020T>A (p.Val340=) n.1350T>A c.744T>A (p.Val248=) c.1314T>A (p.Val438=) c.1221T>A (p.Val407=) c.1134T>A (p.Val378=) n.1361T>A | dbSNP |
| 22 | g.28695779A= | CA2400238291 | CHEK2 | c.1009-537T= (n.1009-537T=) c.989T= (p.Val330=) c.1190T= (p.Val397=) c.527T= (p.Val176=) c.530T= (p.Val177=) n.742T= c.1103T= (p.Val368=) c.1319T= (p.Val440=) c.917T= (p.Val306=) c.*680T= (n.*680T=) c.1099T= (n.1099T=) c.1128T= (n.1128T=) c.421T= c.1080T= (n.1080T=) c.263+4059T= c.710T= (p.Val237=) c.647T= (p.Val216=) c.1349T= (p.Val450=) c.1262T= (p.Val421=) c.1118T= (p.Val373=) c.1019T= (p.Val340=) n.1349T= c.743T= (p.Val248=) c.1313T= (p.Val438=) c.1220T= (p.Val407=) c.1133T= (p.Val378=) n.1360T= | |
| 22 | g.28695779A>C | CA411096792 | CHEK2 | c.1009-537T>G (n.1009-537T>G) c.989T>G (p.Val330Gly) c.1190T>G (p.Val397Gly) c.527T>G (p.Val176Gly) c.530T>G (p.Val177Gly) n.742T>G c.1103T>G (p.Val368Gly) c.1319T>G (p.Val440Gly) c.917T>G (p.Val306Gly) c.*680T>G (n.*680T>G) c.1099T>G (n.1099T>G) c.1128T>G (n.1128T>G) c.421T>G c.1080T>G (n.1080T>G) c.263+4059T>G c.710T>G (p.Val237Gly) c.647T>G (p.Val216Gly) c.1349T>G (p.Val450Gly) c.1262T>G (p.Val421Gly) c.1118T>G (p.Val373Gly) c.1019T>G (p.Val340Gly) n.1349T>G c.743T>G (p.Val248Gly) c.1313T>G (p.Val438Gly) c.1220T>G (p.Val407Gly) c.1133T>G (p.Val378Gly) n.1360T>G | dbSNP |
| 22 | g.28695779A>G | CA411096793 | CHEK2 | c.1009-537T>C (n.1009-537T>C) c.989T>C (p.Val330Ala) c.1190T>C (p.Val397Ala) c.527T>C (p.Val176Ala) c.530T>C (p.Val177Ala) n.742T>C c.1103T>C (p.Val368Ala) c.1319T>C (p.Val440Ala) c.917T>C (p.Val306Ala) c.*680T>C (n.*680T>C) c.1099T>C (n.1099T>C) c.1128T>C (n.1128T>C) c.421T>C c.1080T>C (n.1080T>C) c.263+4059T>C c.710T>C (p.Val237Ala) c.647T>C (p.Val216Ala) c.1349T>C (p.Val450Ala) c.1262T>C (p.Val421Ala) c.1118T>C (p.Val373Ala) c.1019T>C (p.Val340Ala) n.1349T>C c.743T>C (p.Val248Ala) c.1313T>C (p.Val438Ala) c.1220T>C (p.Val407Ala) c.1133T>C (p.Val378Ala) n.1360T>C | ClinVar dbSNP |
| 22 | g.28695779A>T | CA411096794 | CHEK2 | c.1009-537T>A (n.1009-537T>A) c.989T>A (p.Val330Asp) c.1190T>A (p.Val397Asp) c.527T>A (p.Val176Asp) c.530T>A (p.Val177Asp) n.742T>A c.1103T>A (p.Val368Asp) c.1319T>A (p.Val440Asp) c.917T>A (p.Val306Asp) c.*680T>A (n.*680T>A) c.1099T>A (n.1099T>A) c.1128T>A (n.1128T>A) c.421T>A c.1080T>A (n.1080T>A) c.263+4059T>A c.710T>A (p.Val237Asp) c.647T>A (p.Val216Asp) c.1349T>A (p.Val450Asp) c.1262T>A (p.Val421Asp) c.1118T>A (p.Val373Asp) c.1019T>A (p.Val340Asp) n.1349T>A c.743T>A (p.Val248Asp) c.1313T>A (p.Val438Asp) c.1220T>A (p.Val407Asp) c.1133T>A (p.Val378Asp) n.1360T>A | dbSNP |
| 22 | g.28695780del | CA2580099502 | CHEK2 | c.1009-538del (n.1009-538del) c.988del (p.Val330PhefsTer17) c.1189del (p.Val397PhefsTer17) c.526del (p.Val176PhefsTer17) c.529del (p.Val177PhefsTer17) n.741del c.1102del (p.Val368PhefsTer17) c.1318del (p.Val440PhefsTer17) c.916del (p.Val306PhefsTer17) c.*679del (n.*679del) c.1098del (n.1098del) c.1127del (n.1127del) c.420del c.1079del (n.1079del) c.263+4058del c.709del (p.Val237PhefsTer17) c.646del (p.Val216PhefsTer17) c.1348del (p.Val450PhefsTer17) c.1261del (p.Val421PhefsTer17) c.1117del (p.Val373PhefsTer17) c.1018del (p.Val340PhefsTer17) n.1348del c.742del (p.Val248PhefsTer17) c.1312del (p.Val438PhefsTer17) c.1219del (p.Val407PhefsTer17) c.1132del (p.Val378PhefsTer17) n.1359del | ClinVar |
| 22 | g.28695780C>A | CA411096795 | CHEK2 | c.1009-538G>T (n.1009-538G>T) c.988G>T (p.Val330Phe) c.1189G>T (p.Val397Phe) c.526G>T (p.Val176Phe) c.529G>T (p.Val177Phe) n.741G>T c.1102G>T (p.Val368Phe) c.1318G>T (p.Val440Phe) c.916G>T (p.Val306Phe) c.*679G>T (n.*679G>T) c.1098G>T (n.1098G>T) c.1127G>T (n.1127G>T) c.420G>T c.1079G>T (n.1079G>T) c.263+4058G>T c.709G>T (p.Val237Phe) c.646G>T (p.Val216Phe) c.1348G>T (p.Val450Phe) c.1261G>T (p.Val421Phe) c.1117G>T (p.Val373Phe) c.1018G>T (p.Val340Phe) n.1348G>T c.742G>T (p.Val248Phe) c.1312G>T (p.Val438Phe) c.1219G>T (p.Val407Phe) c.1132G>T (p.Val378Phe) n.1359G>T | dbSNP |
| 22 | g.28695780C>G | CA411096796 | CHEK2 | c.1009-538G>C (n.1009-538G>C) c.988G>C (p.Val330Leu) c.1189G>C (p.Val397Leu) c.526G>C (p.Val176Leu) c.529G>C (p.Val177Leu) n.741G>C c.1102G>C (p.Val368Leu) c.1318G>C (p.Val440Leu) c.916G>C (p.Val306Leu) c.*679G>C (n.*679G>C) c.1098G>C (n.1098G>C) c.1127G>C (n.1127G>C) c.420G>C c.1079G>C (n.1079G>C) c.263+4058G>C c.709G>C (p.Val237Leu) c.646G>C (p.Val216Leu) c.1348G>C (p.Val450Leu) c.1261G>C (p.Val421Leu) c.1117G>C (p.Val373Leu) c.1018G>C (p.Val340Leu) n.1348G>C c.742G>C (p.Val248Leu) c.1312G>C (p.Val438Leu) c.1219G>C (p.Val407Leu) c.1132G>C (p.Val378Leu) n.1359G>C | dbSNP |
| 22 | g.28695780C>T | CA411096797 | CHEK2 | c.1009-538G>A (n.1009-538G>A) c.988G>A (p.Val330Ile) c.1189G>A (p.Val397Ile) c.526G>A (p.Val176Ile) c.529G>A (p.Val177Ile) n.741G>A c.1102G>A (p.Val368Ile) c.1318G>A (p.Val440Ile) c.916G>A (p.Val306Ile) c.*679G>A (n.*679G>A) c.1098G>A (n.1098G>A) c.1127G>A (n.1127G>A) c.420G>A c.1079G>A (n.1079G>A) c.263+4058G>A c.709G>A (p.Val237Ile) c.646G>A (p.Val216Ile) c.1348G>A (p.Val450Ile) c.1261G>A (p.Val421Ile) c.1117G>A (p.Val373Ile) c.1018G>A (p.Val340Ile) n.1348G>A c.742G>A (p.Val248Ile) c.1312G>A (p.Val438Ile) c.1219G>A (p.Val407Ile) c.1132G>A (p.Val378Ile) n.1359G>A | ClinVar |
| 22 | g.28695780_28695781delinsCA | CA2400238292 | CHEK2 | c.1009-539_1009-538delinsTG (n.1009-539_1009-538delinsTG) c.987_988delinsTG (p.Leu329=) c.1188_1189delinsTG (p.Leu396=) c.525_526delinsTG (p.Leu175=) c.528_529delinsTG (p.Leu176=) n.740_741delinsTG c.1101_1102delinsTG (p.Leu367=) c.1317_1318delinsTG (p.Leu439=) c.915_916delinsTG (p.Leu305=) c.*678_*679delinsTG (n.*678_*679delinsTG) c.1097_1098delinsTG (n.1097_1098delinsTG) c.1126_1127delinsTG (n.1126_1127delinsTG) c.419_420delinsTG c.1078_1079delinsTG (n.1078_1079delinsTG) c.263+4057_263+4058delinsTG c.708_709delinsTG (p.Leu236=) c.645_646delinsTG (p.Leu215=) c.1347_1348delinsTG (p.Leu449=) c.1260_1261delinsTG (p.Leu420=) c.1116_1117delinsTG (p.Leu372=) c.1017_1018delinsTG (p.Leu339=) n.1347_1348delinsTG c.741_742delinsTG (p.Leu247=) c.1311_1312delinsTG (p.Leu437=) c.1218_1219delinsTG (p.Leu406=) c.1131_1132delinsTG (p.Leu377=) n.1358_1359delinsTG | |
| 22 | g.28695781A>C | CA513944897 | CHEK2 | c.1009-539T>G (n.1009-539T>G) c.987T>G (p.Leu329=) c.1188T>G (p.Leu396=) c.525T>G (p.Leu175=) c.528T>G (p.Leu176=) n.740T>G c.1101T>G (p.Leu367=) c.1317T>G (p.Leu439=) c.915T>G (p.Leu305=) c.*678T>G (n.*678T>G) c.1097T>G (n.1097T>G) c.1126T>G (n.1126T>G) c.419T>G c.1078T>G (n.1078T>G) c.263+4057T>G c.708T>G (p.Leu236=) c.645T>G (p.Leu215=) c.1347T>G (p.Leu449=) c.1260T>G (p.Leu420=) c.1116T>G (p.Leu372=) c.1017T>G (p.Leu339=) n.1347T>G c.741T>G (p.Leu247=) c.1311T>G (p.Leu437=) c.1218T>G (p.Leu406=) c.1131T>G (p.Leu377=) n.1358T>G | |
| 22 | g.28695781A>G | CA513944898 | CHEK2 | c.1009-539T>C (n.1009-539T>C) c.987T>C (p.Leu329=) c.1188T>C (p.Leu396=) c.525T>C (p.Leu175=) c.528T>C (p.Leu176=) n.740T>C c.1101T>C (p.Leu367=) c.1317T>C (p.Leu439=) c.915T>C (p.Leu305=) c.*678T>C (n.*678T>C) c.1097T>C (n.1097T>C) c.1126T>C (n.1126T>C) c.419T>C c.1078T>C (n.1078T>C) c.263+4057T>C c.708T>C (p.Leu236=) c.645T>C (p.Leu215=) c.1347T>C (p.Leu449=) c.1260T>C (p.Leu420=) c.1116T>C (p.Leu372=) c.1017T>C (p.Leu339=) n.1347T>C c.741T>C (p.Leu247=) c.1311T>C (p.Leu437=) c.1218T>C (p.Leu406=) c.1131T>C (p.Leu377=) n.1358T>C | |
| 22 | g.28695781A>T | CA513944899 | CHEK2 | c.1009-539T>A (n.1009-539T>A) c.987T>A (p.Leu329=) c.1188T>A (p.Leu396=) c.525T>A (p.Leu175=) c.528T>A (p.Leu176=) n.740T>A c.1101T>A (p.Leu367=) c.1317T>A (p.Leu439=) c.915T>A (p.Leu305=) c.*678T>A (n.*678T>A) c.1097T>A (n.1097T>A) c.1126T>A (n.1126T>A) c.419T>A c.1078T>A (n.1078T>A) c.263+4057T>A c.708T>A (p.Leu236=) c.645T>A (p.Leu215=) c.1347T>A (p.Leu449=) c.1260T>A (p.Leu420=) c.1116T>A (p.Leu372=) c.1017T>A (p.Leu339=) n.1347T>A c.741T>A (p.Leu247=) c.1311T>A (p.Leu437=) c.1218T>A (p.Leu406=) c.1131T>A (p.Leu377=) n.1358T>A | dbSNP |