| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.20175244G>A | CA121631 | RPS6KA3 | c.1147C>T (p.Arg383Trp) c.1060C>T (p.Arg354Trp) c.1063C>T (p.Arg355Trp) c.765C>T (n.765C>T) c.*368C>T (n.*368C>T) c.1165C>T (p.Arg389Trp) c.1081C>T (p.Arg361Trp) c.1078C>T (p.Arg360Trp) | ClinVar dbSNP |
| X | g.20175244G>C | CA412516951 | RPS6KA3 | c.1147C>G (p.Arg383Gly) c.1060C>G (p.Arg354Gly) c.1063C>G (p.Arg355Gly) c.765C>G (n.765C>G) c.*368C>G (n.*368C>G) c.1165C>G (p.Arg389Gly) c.1081C>G (p.Arg361Gly) c.1078C>G (p.Arg360Gly) | |
| X | g.20175244G= | CA2418509221 | RPS6KA3 | c.1147C= (p.Arg383=) c.1060C= (p.Arg354=) c.1063C= (p.Arg355=) c.765C= (n.765C=) c.*368C= (n.*368C=) c.1165C= (p.Arg389=) c.1081C= (p.Arg361=) c.1078C= (p.Arg360=) | |
| X | g.20175244G>T | CA515614171 | RPS6KA3 | c.1147C>A (p.Arg383=) c.1060C>A (p.Arg354=) c.1063C>A (p.Arg355=) c.765C>A (n.765C>A) c.*368C>A (n.*368C>A) c.1165C>A (p.Arg389=) c.1081C>A (p.Arg361=) c.1078C>A (p.Arg360=) | |
| X | g.20175245A>C | CA412516952 | RPS6KA3 | c.1146T>G (p.Phe382Leu) c.1059T>G (p.Phe353Leu) c.1062T>G (p.Phe354Leu) c.764T>G (n.764T>G) c.*367T>G (n.*367T>G) c.1164T>G (p.Phe388Leu) c.1080T>G (p.Phe360Leu) c.1077T>G (p.Phe359Leu) | |
| X | g.20175245A>G | CA515614172 | RPS6KA3 | c.1146T>C (p.Phe382=) c.1059T>C (p.Phe353=) c.1062T>C (p.Phe354=) c.764T>C (n.764T>C) c.*367T>C (n.*367T>C) c.1164T>C (p.Phe388=) c.1080T>C (p.Phe360=) c.1077T>C (p.Phe359=) | |
| X | g.20175245A>T | CA412516954 | RPS6KA3 | c.1146T>A (p.Phe382Leu) c.1059T>A (p.Phe353Leu) c.1062T>A (p.Phe354Leu) c.764T>A (n.764T>A) c.*367T>A (n.*367T>A) c.1164T>A (p.Phe388Leu) c.1080T>A (p.Phe360Leu) c.1077T>A (p.Phe359Leu) | |
| X | g.20175246A>C | CA412516955 | RPS6KA3 | c.1145T>G (p.Phe382Cys) c.1058T>G (p.Phe353Cys) c.1061T>G (p.Phe354Cys) c.763T>G (n.763T>G) c.*366T>G (n.*366T>G) c.1163T>G (p.Phe388Cys) c.1079T>G (p.Phe360Cys) c.1076T>G (p.Phe359Cys) | |
| X | g.20175246A>G | CA412516956 | RPS6KA3 | c.1145T>C (p.Phe382Ser) c.1058T>C (p.Phe353Ser) c.1061T>C (p.Phe354Ser) c.763T>C (n.763T>C) c.*366T>C (n.*366T>C) c.1163T>C (p.Phe388Ser) c.1079T>C (p.Phe360Ser) c.1076T>C (p.Phe359Ser) | |
| X | g.20175246A>T | CA412516957 | RPS6KA3 | c.1145T>A (p.Phe382Tyr) c.1058T>A (p.Phe353Tyr) c.1061T>A (p.Phe354Tyr) c.763T>A (n.763T>A) c.*366T>A (n.*366T>A) c.1163T>A (p.Phe388Tyr) c.1079T>A (p.Phe360Tyr) c.1076T>A (p.Phe359Tyr) | |
| X | g.20175247A>C | CA412516958 | RPS6KA3 | c.1144T>G (p.Phe382Val) c.1057T>G (p.Phe353Val) c.1060T>G (p.Phe354Val) c.762T>G (n.762T>G) c.*365T>G (n.*365T>G) c.1162T>G (p.Phe388Val) c.1078T>G (p.Phe360Val) c.1075T>G (p.Phe359Val) | |
| X | g.20175247A>G | CA412516959 | RPS6KA3 | c.1144T>C (p.Phe382Leu) c.1057T>C (p.Phe353Leu) c.1060T>C (p.Phe354Leu) c.762T>C (n.762T>C) c.*365T>C (n.*365T>C) c.1162T>C (p.Phe388Leu) c.1078T>C (p.Phe360Leu) c.1075T>C (p.Phe359Leu) | |
| X | g.20175247A>T | CA412516960 | RPS6KA3 | c.1144T>A (p.Phe382Ile) c.1057T>A (p.Phe353Ile) c.1060T>A (p.Phe354Ile) c.762T>A (n.762T>A) c.*365T>A (n.*365T>A) c.1162T>A (p.Phe388Ile) c.1078T>A (p.Phe360Ile) c.1075T>A (p.Phe359Ile) | |
| X | g.20175248A= | CA2418509222 | RPS6KA3 | c.1143T= (p.Leu381=) c.1056T= (p.Leu352=) c.1059T= (p.Leu353=) c.761T= (n.761T=) c.*364T= (n.*364T=) c.1161T= (p.Leu387=) c.1077T= (p.Leu359=) c.1074T= (p.Leu358=) | |
| X | g.20175248A>C | CA515614173 | RPS6KA3 | c.1143T>G (p.Leu381=) c.1056T>G (p.Leu352=) c.1059T>G (p.Leu353=) c.761T>G (n.761T>G) c.*364T>G (n.*364T>G) c.1161T>G (p.Leu387=) c.1077T>G (p.Leu359=) c.1074T>G (p.Leu358=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20175248A>G | CA515614174 | RPS6KA3 | c.1143T>C (p.Leu381=) c.1056T>C (p.Leu352=) c.1059T>C (p.Leu353=) c.761T>C (n.761T>C) c.*364T>C (n.*364T>C) c.1161T>C (p.Leu387=) c.1077T>C (p.Leu359=) c.1074T>C (p.Leu358=) | ClinVar dbSNP |
| X | g.20175248A>T | CA515614175 | RPS6KA3 | c.1143T>A (p.Leu381=) c.1056T>A (p.Leu352=) c.1059T>A (p.Leu353=) c.761T>A (n.761T>A) c.*364T>A (n.*364T>A) c.1161T>A (p.Leu387=) c.1077T>A (p.Leu359=) c.1074T>A (p.Leu358=) | |
| X | g.20175249A>C | CA412516961 | RPS6KA3 | c.1142T>G (p.Leu381Arg) c.1055T>G (p.Leu352Arg) c.1058T>G (p.Leu353Arg) c.760T>G (n.760T>G) c.*363T>G (n.*363T>G) c.1160T>G (p.Leu387Arg) c.1076T>G (p.Leu359Arg) c.1073T>G (p.Leu358Arg) | |
| X | g.20175249A>G | CA412516962 | RPS6KA3 | c.1142T>C (p.Leu381Pro) c.1055T>C (p.Leu352Pro) c.1058T>C (p.Leu353Pro) c.760T>C (n.760T>C) c.*363T>C (n.*363T>C) c.1160T>C (p.Leu387Pro) c.1076T>C (p.Leu359Pro) c.1073T>C (p.Leu358Pro) | |
| X | g.20175249A>T | CA412516963 | RPS6KA3 | c.1142T>A (p.Leu381His) c.1055T>A (p.Leu352His) c.1058T>A (p.Leu353His) c.760T>A (n.760T>A) c.*363T>A (n.*363T>A) c.1160T>A (p.Leu387His) c.1076T>A (p.Leu359His) c.1073T>A (p.Leu358His) | COSMIC |
| X | g.20175250G>A | CA412516964 | RPS6KA3 | c.1141C>T (p.Leu381Phe) c.1054C>T (p.Leu352Phe) c.1057C>T (p.Leu353Phe) c.759C>T (n.759C>T) c.*362C>T (n.*362C>T) c.1159C>T (p.Leu387Phe) c.1075C>T (p.Leu359Phe) c.1072C>T (p.Leu358Phe) | |
| X | g.20175250G>C | CA412516966 | RPS6KA3 | c.1141C>G (p.Leu381Val) c.1054C>G (p.Leu352Val) c.1057C>G (p.Leu353Val) c.759C>G (n.759C>G) c.*362C>G (n.*362C>G) c.1159C>G (p.Leu387Val) c.1075C>G (p.Leu359Val) c.1072C>G (p.Leu358Val) | |
| X | g.20175250G>T | CA412516965 | RPS6KA3 | c.1141C>A (p.Leu381Ile) c.1054C>A (p.Leu352Ile) c.1057C>A (p.Leu353Ile) c.759C>A (n.759C>A) c.*362C>A (n.*362C>A) c.1159C>A (p.Leu387Ile) c.1075C>A (p.Leu359Ile) c.1072C>A (p.Leu358Ile) | gnomAD v4 |
| X | g.20175251C>A | CA412516967 | RPS6KA3 | c.1140G>T (p.Gln380His) c.1053G>T (p.Gln351His) c.1056G>T (p.Gln352His) c.758G>T (n.758G>T) c.*361G>T (n.*361G>T) c.1158G>T (p.Gln386His) c.1074G>T (p.Gln358His) c.1071G>T (p.Gln357His) | |
| X | g.20175251C>G | CA412516968 | RPS6KA3 | c.1140G>C (p.Gln380His) c.1053G>C (p.Gln351His) c.1056G>C (p.Gln352His) c.758G>C (n.758G>C) c.*361G>C (n.*361G>C) c.1158G>C (p.Gln386His) c.1074G>C (p.Gln358His) c.1071G>C (p.Gln357His) | gnomAD v4 |
| X | g.20175251C>T | CA515614176 | RPS6KA3 | c.1140G>A (p.Gln380=) c.1053G>A (p.Gln351=) c.1056G>A (p.Gln352=) c.758G>A (n.758G>A) c.*361G>A (n.*361G>A) c.1158G>A (p.Gln386=) c.1074G>A (p.Gln358=) c.1071G>A (p.Gln357=) | |
| X | g.20175252T>A | CA412516969 | RPS6KA3 | c.1139A>T (p.Gln380Leu) c.1052A>T (p.Gln351Leu) c.1055A>T (p.Gln352Leu) c.757A>T (n.757A>T) c.*360A>T (n.*360A>T) c.1157A>T (p.Gln386Leu) c.1073A>T (p.Gln358Leu) c.1070A>T (p.Gln357Leu) | |
| X | g.20175252T>C | CA412516970 | RPS6KA3 | c.1139A>G (p.Gln380Arg) c.1052A>G (p.Gln351Arg) c.1055A>G (p.Gln352Arg) c.757A>G (n.757A>G) c.*360A>G (n.*360A>G) c.1157A>G (p.Gln386Arg) c.1073A>G (p.Gln358Arg) c.1070A>G (p.Gln357Arg) | |
| X | g.20175252T>G | CA412516971 | RPS6KA3 | c.1139A>C (p.Gln380Pro) c.1052A>C (p.Gln351Pro) c.1055A>C (p.Gln352Pro) c.757A>C (n.757A>C) c.*360A>C (n.*360A>C) c.1157A>C (p.Gln386Pro) c.1073A>C (p.Gln358Pro) c.1070A>C (p.Gln357Pro) | |
| X | g.20175253G>A | CA412516972 | RPS6KA3 | c.1138C>T (p.Gln380Ter) c.1051C>T (p.Gln351Ter) c.1054C>T (p.Gln352Ter) c.756C>T (n.756C>T) c.*359C>T (n.*359C>T) c.1156C>T (p.Gln386Ter) c.1072C>T (p.Gln358Ter) c.1069C>T (p.Gln357Ter) | |
| X | g.20175253G>C | CA412516973 | RPS6KA3 | c.1138C>G (p.Gln380Glu) c.1051C>G (p.Gln351Glu) c.1054C>G (p.Gln352Glu) c.756C>G (n.756C>G) c.*359C>G (n.*359C>G) c.1156C>G (p.Gln386Glu) c.1072C>G (p.Gln358Glu) c.1069C>G (p.Gln357Glu) | |
| X | g.20175253G>T | CA412516974 | RPS6KA3 | c.1138C>A (p.Gln380Lys) c.1051C>A (p.Gln351Lys) c.1054C>A (p.Gln352Lys) c.756C>A (n.756C>A) c.*359C>A (n.*359C>A) c.1156C>A (p.Gln386Lys) c.1072C>A (p.Gln358Lys) c.1069C>A (p.Gln357Lys) | |
| X | g.20175254A>C | CA412516975 | RPS6KA3 | c.1137T>G (p.His379Gln) c.1050T>G (p.His350Gln) c.1053T>G (p.His351Gln) c.755T>G (n.755T>G) c.*358T>G (n.*358T>G) c.1155T>G (p.His385Gln) c.1071T>G (p.His357Gln) c.1068T>G (p.His356Gln) | |
| X | g.20175254A>G | CA515614177 | RPS6KA3 | c.1137T>C (p.His379=) c.1050T>C (p.His350=) c.1053T>C (p.His351=) c.755T>C (n.755T>C) c.*358T>C (n.*358T>C) c.1155T>C (p.His385=) c.1071T>C (p.His357=) c.1068T>C (p.His356=) | |
| X | g.20175254A>T | CA412516976 | RPS6KA3 | c.1137T>A (p.His379Gln) c.1050T>A (p.His350Gln) c.1053T>A (p.His351Gln) c.755T>A (n.755T>A) c.*358T>A (n.*358T>A) c.1155T>A (p.His385Gln) c.1071T>A (p.His357Gln) c.1068T>A (p.His356Gln) | |
| X | g.20175255T>A | CA412516979 | RPS6KA3 | c.1136A>T (p.His379Leu) c.1049A>T (p.His350Leu) c.1052A>T (p.His351Leu) c.754A>T (n.754A>T) c.*357A>T (n.*357A>T) c.1154A>T (p.His385Leu) c.1070A>T (p.His357Leu) c.1067A>T (p.His356Leu) | dbSNP |
| X | g.20175255T>C | CA412516978 | RPS6KA3 | c.1136A>G (p.His379Arg) c.1049A>G (p.His350Arg) c.1052A>G (p.His351Arg) c.754A>G (n.754A>G) c.*357A>G (n.*357A>G) c.1154A>G (p.His385Arg) c.1070A>G (p.His357Arg) c.1067A>G (p.His356Arg) | |
| X | g.20175255T>G | CA412516977 | RPS6KA3 | c.1136A>C (p.His379Pro) c.1049A>C (p.His350Pro) c.1052A>C (p.His351Pro) c.754A>C (n.754A>C) c.*357A>C (n.*357A>C) c.1154A>C (p.His385Pro) c.1070A>C (p.His357Pro) c.1067A>C (p.His356Pro) | |
| X | g.20175256G>A | CA412516980 | RPS6KA3 | c.1135C>T (p.His379Tyr) c.1048C>T (p.His350Tyr) c.1051C>T (p.His351Tyr) c.753C>T (n.753C>T) c.*356C>T (n.*356C>T) c.1153C>T (p.His385Tyr) c.1069C>T (p.His357Tyr) c.1066C>T (p.His356Tyr) | |
| X | g.20175256G>C | CA412516981 | RPS6KA3 | c.1135C>G (p.His379Asp) c.1048C>G (p.His350Asp) c.1051C>G (p.His351Asp) c.753C>G (n.753C>G) c.*356C>G (n.*356C>G) c.1153C>G (p.His385Asp) c.1069C>G (p.His357Asp) c.1066C>G (p.His356Asp) | |
| X | g.20175256G>T | CA412516982 | RPS6KA3 | c.1135C>A (p.His379Asn) c.1048C>A (p.His350Asn) c.1051C>A (p.His351Asn) c.753C>A (n.753C>A) c.*356C>A (n.*356C>A) c.1153C>A (p.His385Asn) c.1069C>A (p.His357Asn) c.1066C>A (p.His356Asn) | |
| X | g.20175257T>A | CA515614178 | RPS6KA3 | c.1134A>T (p.Ala378=) c.1047A>T (p.Ala349=) c.1050A>T (p.Ala350=) c.752A>T (n.752A>T) c.*355A>T (n.*355A>T) c.1152A>T (p.Ala384=) c.1068A>T (p.Ala356=) c.1065A>T (p.Ala355=) | |
| X | g.20175257T>C | CA515614179 | RPS6KA3 | c.1134A>G (p.Ala378=) c.1047A>G (p.Ala349=) c.1050A>G (p.Ala350=) c.752A>G (n.752A>G) c.*355A>G (n.*355A>G) c.1152A>G (p.Ala384=) c.1068A>G (p.Ala356=) c.1065A>G (p.Ala355=) | |
| X | g.20175257T>G | CA515614180 | RPS6KA3 | c.1134A>C (p.Ala378=) c.1047A>C (p.Ala349=) c.1050A>C (p.Ala350=) c.752A>C (n.752A>C) c.*355A>C (n.*355A>C) c.1152A>C (p.Ala384=) c.1068A>C (p.Ala356=) c.1065A>C (p.Ala355=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.20175257T= | CA2418509223 | RPS6KA3 | c.1134A= (p.Ala378=) c.1047A= (p.Ala349=) c.1050A= (p.Ala350=) c.752A= (n.752A=) c.*355A= (n.*355A=) c.1152A= (p.Ala384=) c.1068A= (p.Ala356=) c.1065A= (p.Ala355=) | |
| X | g.20175258G>A | CA412516983 | RPS6KA3 | c.1133C>T (p.Ala378Val) c.1046C>T (p.Ala349Val) c.1049C>T (p.Ala350Val) c.751C>T (n.751C>T) c.*354C>T (n.*354C>T) c.1151C>T (p.Ala384Val) c.1067C>T (p.Ala356Val) c.1064C>T (p.Ala355Val) | |
| X | g.20175258G>C | CA412516984 | RPS6KA3 | c.1133C>G (p.Ala378Gly) c.1046C>G (p.Ala349Gly) c.1049C>G (p.Ala350Gly) c.751C>G (n.751C>G) c.*354C>G (n.*354C>G) c.1151C>G (p.Ala384Gly) c.1067C>G (p.Ala356Gly) c.1064C>G (p.Ala355Gly) | |
| X | g.20175258G>T | CA412516985 | RPS6KA3 | c.1133C>A (p.Ala378Glu) c.1046C>A (p.Ala349Glu) c.1049C>A (p.Ala350Glu) c.751C>A (n.751C>A) c.*354C>A (n.*354C>A) c.1151C>A (p.Ala384Glu) c.1067C>A (p.Ala356Glu) c.1064C>A (p.Ala355Glu) | |
| X | g.20175259C>A | CA412516988 | RPS6KA3 | c.1132G>T (p.Ala378Ser) c.1045G>T (p.Ala349Ser) c.1048G>T (p.Ala350Ser) c.750G>T (n.750G>T) c.*353G>T (n.*353G>T) c.1150G>T (p.Ala384Ser) c.1066G>T (p.Ala356Ser) c.1063G>T (p.Ala355Ser) | |
| X | g.20175259C>G | CA412516986 | RPS6KA3 | c.1132G>C (p.Ala378Pro) c.1045G>C (p.Ala349Pro) c.1048G>C (p.Ala350Pro) c.750G>C (n.750G>C) c.*353G>C (n.*353G>C) c.1150G>C (p.Ala384Pro) c.1066G>C (p.Ala356Pro) c.1063G>C (p.Ala355Pro) |