Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428514C>A | CA428871613 | PROC | c.954C>A (p.Ile318=) c.278C>A c.1056C>A (p.Ile352=) c.1137C>A (p.Ile379=) c.1119C>A (p.Ile373=) c.1017C>A (p.Ile339=) n.1332-250G>T c.1197C>A (p.Ile399=) c.1299C>A (p.Ile433=) c.1239C>A (p.Ile413=) n.3607-250G>T n.4043-250G>T c.1122C>A (p.Ile374=) c.1140C>A (p.Ile380=) c.897C>A (p.Ile299=) c.930C>A (p.Ile310=) c.948C>A (p.Ile316=) | |
2 | g.127428514C>G | CA348405050 | PROC | c.954C>G (p.Ile318Met) c.278C>G c.1056C>G (p.Ile352Met) c.1137C>G (p.Ile379Met) c.1119C>G (p.Ile373Met) c.1017C>G (p.Ile339Met) n.1332-250G>C c.1197C>G (p.Ile399Met) c.1299C>G (p.Ile433Met) c.1239C>G (p.Ile413Met) n.3607-250G>C n.4043-250G>C c.1122C>G (p.Ile374Met) c.1140C>G (p.Ile380Met) c.897C>G (p.Ile299Met) c.930C>G (p.Ile310Met) c.948C>G (p.Ile316Met) | |
2 | g.127428514C>T | CA428871617 | PROC | c.954C>T (p.Ile318=) c.278C>T c.1056C>T (p.Ile352=) c.1137C>T (p.Ile379=) c.1119C>T (p.Ile373=) c.1017C>T (p.Ile339=) n.1332-250G>A c.1197C>T (p.Ile399=) c.1299C>T (p.Ile433=) c.1239C>T (p.Ile413=) n.3607-250G>A n.4043-250G>A c.1122C>T (p.Ile374=) c.1140C>T (p.Ile380=) c.897C>T (p.Ile299=) c.930C>T (p.Ile310=) c.948C>T (p.Ile316=) | |
2 | g.127428516_127428534del | CA2660997778 | PROC | c.956_974del (p.Cys319LeufsTer15) c.280_298del c.1058_1076del (p.Cys353LeufsTer15) c.1139_1157del (p.Cys380LeufsTer15) c.1121_1139del (p.Cys374LeufsTer15) c.1019_1037del (p.Cys340LeufsTer15) n.1332-268_1332-250del c.1199_1217del (p.Cys400LeufsTer15) c.1301_1319del (p.Cys434LeufsTer15) c.1241_1259del (p.Cys414LeufsTer15) n.3607-268_3607-250del n.4043-268_4043-250del c.1124_1142del (p.Cys375LeufsTer15) c.1142_1160del (p.Cys381LeufsTer15) c.899_917del (p.Cys300LeufsTer15) c.932_950del (p.Cys311LeufsTer15) c.950_968del (p.Cys317LeufsTer15) | gnomAD v4 |
2 | g.127428515T>A | CA348405052 | PROC | c.955T>A (p.Cys319Ser) c.279T>A c.1057T>A (p.Cys353Ser) c.1138T>A (p.Cys380Ser) c.1120T>A (p.Cys374Ser) c.1018T>A (p.Cys340Ser) n.1332-251A>T c.1198T>A (p.Cys400Ser) c.1300T>A (p.Cys434Ser) c.1240T>A (p.Cys414Ser) n.3607-251A>T n.4043-251A>T c.1123T>A (p.Cys375Ser) c.1141T>A (p.Cys381Ser) c.898T>A (p.Cys300Ser) c.931T>A (p.Cys311Ser) c.949T>A (p.Cys317Ser) | |
2 | g.127428515T>C | CA348405055 | PROC | c.955T>C (p.Cys319Arg) c.279T>C c.1057T>C (p.Cys353Arg) c.1138T>C (p.Cys380Arg) c.1120T>C (p.Cys374Arg) c.1018T>C (p.Cys340Arg) n.1332-251A>G c.1198T>C (p.Cys400Arg) c.1300T>C (p.Cys434Arg) c.1240T>C (p.Cys414Arg) n.3607-251A>G n.4043-251A>G c.1123T>C (p.Cys375Arg) c.1141T>C (p.Cys381Arg) c.898T>C (p.Cys300Arg) c.931T>C (p.Cys311Arg) c.949T>C (p.Cys317Arg) | |
2 | g.127428515T>G | CA348405058 | PROC | c.955T>G (p.Cys319Gly) c.279T>G c.1057T>G (p.Cys353Gly) c.1138T>G (p.Cys380Gly) c.1120T>G (p.Cys374Gly) c.1018T>G (p.Cys340Gly) n.1332-251A>C c.1198T>G (p.Cys400Gly) c.1300T>G (p.Cys434Gly) c.1240T>G (p.Cys414Gly) n.3607-251A>C n.4043-251A>C c.1123T>G (p.Cys375Gly) c.1141T>G (p.Cys381Gly) c.898T>G (p.Cys300Gly) c.931T>G (p.Cys311Gly) c.949T>G (p.Cys317Gly) | |
2 | g.127428516G>A | CA348405067 | PROC | c.956G>A (p.Cys319Tyr) c.280G>A c.1058G>A (p.Cys353Tyr) c.1139G>A (p.Cys380Tyr) c.1121G>A (p.Cys374Tyr) c.1019G>A (p.Cys340Tyr) n.1332-252C>T c.1199G>A (p.Cys400Tyr) c.1301G>A (p.Cys434Tyr) c.1241G>A (p.Cys414Tyr) n.3607-252C>T n.4043-252C>T c.1124G>A (p.Cys375Tyr) c.1142G>A (p.Cys381Tyr) c.899G>A (p.Cys300Tyr) c.932G>A (p.Cys311Tyr) c.950G>A (p.Cys317Tyr) | |
2 | g.127428516G>C | CA348405061 | PROC | c.956G>C (p.Cys319Ser) c.280G>C c.1058G>C (p.Cys353Ser) c.1139G>C (p.Cys380Ser) c.1121G>C (p.Cys374Ser) c.1019G>C (p.Cys340Ser) n.1332-252C>G c.1199G>C (p.Cys400Ser) c.1301G>C (p.Cys434Ser) c.1241G>C (p.Cys414Ser) n.3607-252C>G n.4043-252C>G c.1124G>C (p.Cys375Ser) c.1142G>C (p.Cys381Ser) c.899G>C (p.Cys300Ser) c.932G>C (p.Cys311Ser) c.950G>C (p.Cys317Ser) | |
2 | g.127428516G>T | CA348405063 | PROC | c.956G>T (p.Cys319Phe) c.280G>T c.1058G>T (p.Cys353Phe) c.1139G>T (p.Cys380Phe) c.1121G>T (p.Cys374Phe) c.1019G>T (p.Cys340Phe) n.1332-252C>A c.1199G>T (p.Cys400Phe) c.1301G>T (p.Cys434Phe) c.1241G>T (p.Cys414Phe) n.3607-252C>A n.4043-252C>A c.1124G>T (p.Cys375Phe) c.1142G>T (p.Cys381Phe) c.899G>T (p.Cys300Phe) c.932G>T (p.Cys311Phe) c.950G>T (p.Cys317Phe) | |
2 | g.127428517C>A | CA348405071 | PROC | c.957C>A (p.Cys319Ter) c.281C>A c.1059C>A (p.Cys353Ter) c.1140C>A (p.Cys380Ter) c.1122C>A (p.Cys374Ter) c.1020C>A (p.Cys340Ter) n.1332-253G>T c.1200C>A (p.Cys400Ter) c.1302C>A (p.Cys434Ter) c.1242C>A (p.Cys414Ter) n.3607-253G>T n.4043-253G>T c.1125C>A (p.Cys375Ter) c.1143C>A (p.Cys381Ter) c.900C>A (p.Cys300Ter) c.933C>A (p.Cys311Ter) c.951C>A (p.Cys317Ter) | |
2 | g.127428517C= | CA1286884507 | PROC | c.957C= (p.Cys319=) c.281C= c.1059C= (p.Cys353=) c.1140C= (p.Cys380=) c.1122C= (p.Cys374=) c.1020C= (p.Cys340=) n.1332-253G= c.1200C= (p.Cys400=) c.1302C= (p.Cys434=) c.1242C= (p.Cys414=) n.3607-253G= n.4043-253G= c.1125C= (p.Cys375=) c.1143C= (p.Cys381=) c.900C= (p.Cys300=) c.933C= (p.Cys311=) c.951C= (p.Cys317=) | |
2 | g.127428517C>G | CA348405073 | PROC | c.957C>G (p.Cys319Trp) c.281C>G c.1059C>G (p.Cys353Trp) c.1140C>G (p.Cys380Trp) c.1122C>G (p.Cys374Trp) c.1020C>G (p.Cys340Trp) n.1332-253G>C c.1200C>G (p.Cys400Trp) c.1302C>G (p.Cys434Trp) c.1242C>G (p.Cys414Trp) n.3607-253G>C n.4043-253G>C c.1125C>G (p.Cys375Trp) c.1143C>G (p.Cys381Trp) c.900C>G (p.Cys300Trp) c.933C>G (p.Cys311Trp) c.951C>G (p.Cys317Trp) | |
2 | g.127428517C>T | CA428871640 | PROC | c.957C>T (p.Cys319=) c.281C>T c.1059C>T (p.Cys353=) c.1140C>T (p.Cys380=) c.1122C>T (p.Cys374=) c.1020C>T (p.Cys340=) n.1332-253G>A c.1200C>T (p.Cys400=) c.1302C>T (p.Cys434=) c.1242C>T (p.Cys414=) n.3607-253G>A n.4043-253G>A c.1125C>T (p.Cys375=) c.1143C>T (p.Cys381=) c.900C>T (p.Cys300=) c.933C>T (p.Cys311=) c.951C>T (p.Cys317=) | dbSNP COSMIC |
2 | g.127428518C>A | CA348405076 | PROC | c.958C>A (p.Leu320Ile) c.282C>A c.1060C>A (p.Leu354Ile) c.1141C>A (p.Leu381Ile) c.1123C>A (p.Leu375Ile) c.1021C>A (p.Leu341Ile) n.1332-254G>T c.1201C>A (p.Leu401Ile) c.1303C>A (p.Leu435Ile) c.1243C>A (p.Leu415Ile) n.3607-254G>T n.4043-254G>T c.1126C>A (p.Leu376Ile) c.1144C>A (p.Leu382Ile) c.901C>A (p.Leu301Ile) c.934C>A (p.Leu312Ile) c.952C>A (p.Leu318Ile) | |
2 | g.127428518C>G | CA348405077 | PROC | c.958C>G (p.Leu320Val) c.282C>G c.1060C>G (p.Leu354Val) c.1141C>G (p.Leu381Val) c.1123C>G (p.Leu375Val) c.1021C>G (p.Leu341Val) n.1332-254G>C c.1201C>G (p.Leu401Val) c.1303C>G (p.Leu435Val) c.1243C>G (p.Leu415Val) n.3607-254G>C n.4043-254G>C c.1126C>G (p.Leu376Val) c.1144C>G (p.Leu382Val) c.901C>G (p.Leu301Val) c.934C>G (p.Leu312Val) c.952C>G (p.Leu318Val) | |
2 | g.127428518C>T | CA348405078 | PROC | c.958C>T (p.Leu320Phe) c.282C>T c.1060C>T (p.Leu354Phe) c.1141C>T (p.Leu381Phe) c.1123C>T (p.Leu375Phe) c.1021C>T (p.Leu341Phe) n.1332-254G>A c.1201C>T (p.Leu401Phe) c.1303C>T (p.Leu435Phe) c.1243C>T (p.Leu415Phe) n.3607-254G>A n.4043-254G>A c.1126C>T (p.Leu376Phe) c.1144C>T (p.Leu382Phe) c.901C>T (p.Leu301Phe) c.934C>T (p.Leu312Phe) c.952C>T (p.Leu318Phe) | |
2 | g.127428519T>A | CA348405079 | PROC | c.959T>A (p.Leu320His) c.283T>A c.1061T>A (p.Leu354His) c.1142T>A (p.Leu381His) c.1124T>A (p.Leu375His) c.1022T>A (p.Leu341His) n.1332-255A>T c.1202T>A (p.Leu401His) c.1304T>A (p.Leu435His) c.1244T>A (p.Leu415His) n.3607-255A>T n.4043-255A>T c.1127T>A (p.Leu376His) c.1145T>A (p.Leu382His) c.902T>A (p.Leu301His) c.935T>A (p.Leu312His) c.953T>A (p.Leu318His) | |
2 | g.127428519T>C | CA348405081 | PROC | c.959T>C (p.Leu320Pro) c.283T>C c.1061T>C (p.Leu354Pro) c.1142T>C (p.Leu381Pro) c.1124T>C (p.Leu375Pro) c.1022T>C (p.Leu341Pro) n.1332-255A>G c.1202T>C (p.Leu401Pro) c.1304T>C (p.Leu435Pro) c.1244T>C (p.Leu415Pro) n.3607-255A>G n.4043-255A>G c.1127T>C (p.Leu376Pro) c.1145T>C (p.Leu382Pro) c.902T>C (p.Leu301Pro) c.935T>C (p.Leu312Pro) c.953T>C (p.Leu318Pro) | |
2 | g.127428519T>G | CA348405094 | PROC | c.959T>G (p.Leu320Arg) c.283T>G c.1061T>G (p.Leu354Arg) c.1142T>G (p.Leu381Arg) c.1124T>G (p.Leu375Arg) c.1022T>G (p.Leu341Arg) n.1332-255A>C c.1202T>G (p.Leu401Arg) c.1304T>G (p.Leu435Arg) c.1244T>G (p.Leu415Arg) n.3607-255A>C n.4043-255A>C c.1127T>G (p.Leu376Arg) c.1145T>G (p.Leu382Arg) c.902T>G (p.Leu301Arg) c.935T>G (p.Leu312Arg) c.953T>G (p.Leu318Arg) | |
2 | g.127428520C>A | CA428871657 | PROC | c.960C>A (p.Leu320=) c.284C>A c.1062C>A (p.Leu354=) c.1143C>A (p.Leu381=) c.1125C>A (p.Leu375=) c.1023C>A (p.Leu341=) n.1332-256G>T c.1203C>A (p.Leu401=) c.1305C>A (p.Leu435=) c.1245C>A (p.Leu415=) n.3607-256G>T n.4043-256G>T c.1128C>A (p.Leu376=) c.1146C>A (p.Leu382=) c.903C>A (p.Leu301=) c.936C>A (p.Leu312=) c.954C>A (p.Leu318=) | |
2 | g.127428520C>G | CA428871659 | PROC | c.960C>G (p.Leu320=) c.284C>G c.1062C>G (p.Leu354=) c.1143C>G (p.Leu381=) c.1125C>G (p.Leu375=) c.1023C>G (p.Leu341=) n.1332-256G>C c.1203C>G (p.Leu401=) c.1305C>G (p.Leu435=) c.1245C>G (p.Leu415=) n.3607-256G>C n.4043-256G>C c.1128C>G (p.Leu376=) c.1146C>G (p.Leu382=) c.903C>G (p.Leu301=) c.936C>G (p.Leu312=) c.954C>G (p.Leu318=) | |
2 | g.127428520C>T | CA428871660 | PROC | c.960C>T (p.Leu320=) c.284C>T c.1062C>T (p.Leu354=) c.1143C>T (p.Leu381=) c.1125C>T (p.Leu375=) c.1023C>T (p.Leu341=) n.1332-256G>A c.1203C>T (p.Leu401=) c.1305C>T (p.Leu435=) c.1245C>T (p.Leu415=) n.3607-256G>A n.4043-256G>A c.1128C>T (p.Leu376=) c.1146C>T (p.Leu382=) c.903C>T (p.Leu301=) c.936C>T (p.Leu312=) c.954C>T (p.Leu318=) | |
2 | g.127428521C>A | CA348405096 | PROC | c.961C>A (p.Pro321Thr) c.285C>A c.1063C>A (p.Pro355Thr) c.1144C>A (p.Pro382Thr) c.1126C>A (p.Pro376Thr) c.1024C>A (p.Pro342Thr) n.1332-257G>T c.1204C>A (p.Pro402Thr) c.1306C>A (p.Pro436Thr) c.1246C>A (p.Pro416Thr) n.3607-257G>T n.4043-257G>T c.1129C>A (p.Pro377Thr) c.1147C>A (p.Pro383Thr) c.904C>A (p.Pro302Thr) c.937C>A (p.Pro313Thr) c.955C>A (p.Pro319Thr) | |
2 | g.127428521C>G | CA348405097 | PROC | c.961C>G (p.Pro321Ala) c.285C>G c.1063C>G (p.Pro355Ala) c.1144C>G (p.Pro382Ala) c.1126C>G (p.Pro376Ala) c.1024C>G (p.Pro342Ala) n.1332-257G>C c.1204C>G (p.Pro402Ala) c.1306C>G (p.Pro436Ala) c.1246C>G (p.Pro416Ala) n.3607-257G>C n.4043-257G>C c.1129C>G (p.Pro377Ala) c.1147C>G (p.Pro383Ala) c.904C>G (p.Pro302Ala) c.937C>G (p.Pro313Ala) c.955C>G (p.Pro319Ala) | |
2 | g.127428521C>T | CA348405098 | PROC | c.961C>T (p.Pro321Ser) c.285C>T c.1063C>T (p.Pro355Ser) c.1144C>T (p.Pro382Ser) c.1126C>T (p.Pro376Ser) c.1024C>T (p.Pro342Ser) n.1332-257G>A c.1204C>T (p.Pro402Ser) c.1306C>T (p.Pro436Ser) c.1246C>T (p.Pro416Ser) n.3607-257G>A n.4043-257G>A c.1129C>T (p.Pro377Ser) c.1147C>T (p.Pro383Ser) c.904C>T (p.Pro302Ser) c.937C>T (p.Pro313Ser) c.955C>T (p.Pro319Ser) | gnomAD v4 |
2 | g.127428522C>A | CA348405101 | PROC | c.962C>A (p.Pro321Gln) c.286C>A c.1064C>A (p.Pro355Gln) c.1145C>A (p.Pro382Gln) c.1127C>A (p.Pro376Gln) c.1025C>A (p.Pro342Gln) n.1332-258G>T c.1205C>A (p.Pro402Gln) c.1307C>A (p.Pro436Gln) c.1247C>A (p.Pro416Gln) n.3607-258G>T n.4043-258G>T c.1130C>A (p.Pro377Gln) c.1148C>A (p.Pro383Gln) c.905C>A (p.Pro302Gln) c.938C>A (p.Pro313Gln) c.956C>A (p.Pro319Gln) | |
2 | g.127428522C= | CA1286884508 | PROC | c.962C= (p.Pro321=) c.286C= c.1064C= (p.Pro355=) c.1145C= (p.Pro382=) c.1127C= (p.Pro376=) c.1025C= (p.Pro342=) n.1332-258G= c.1205C= (p.Pro402=) c.1307C= (p.Pro436=) c.1247C= (p.Pro416=) n.3607-258G= n.4043-258G= c.1130C= (p.Pro377=) c.1148C= (p.Pro383=) c.905C= (p.Pro302=) c.938C= (p.Pro313=) c.956C= (p.Pro319=) | |
2 | g.127428522C>G | CA348405104 | PROC | c.962C>G (p.Pro321Arg) c.286C>G c.1064C>G (p.Pro355Arg) c.1145C>G (p.Pro382Arg) c.1127C>G (p.Pro376Arg) c.1025C>G (p.Pro342Arg) n.1332-258G>C c.1205C>G (p.Pro402Arg) c.1307C>G (p.Pro436Arg) c.1247C>G (p.Pro416Arg) n.3607-258G>C n.4043-258G>C c.1130C>G (p.Pro377Arg) c.1148C>G (p.Pro383Arg) c.905C>G (p.Pro302Arg) c.938C>G (p.Pro313Arg) c.956C>G (p.Pro319Arg) | |
2 | g.127428522C>T | CA348405099 | PROC | c.962C>T (p.Pro321Leu) c.286C>T c.1064C>T (p.Pro355Leu) c.1145C>T (p.Pro382Leu) c.1127C>T (p.Pro376Leu) c.1025C>T (p.Pro342Leu) n.1332-258G>A c.1205C>T (p.Pro402Leu) c.1307C>T (p.Pro436Leu) c.1247C>T (p.Pro416Leu) n.3607-258G>A n.4043-258G>A c.1130C>T (p.Pro377Leu) c.1148C>T (p.Pro383Leu) c.905C>T (p.Pro302Leu) c.938C>T (p.Pro313Leu) c.956C>T (p.Pro319Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428523G>A | CA1859493 | PROC | c.963G>A (p.Pro321=) c.287G>A c.1065G>A (p.Pro355=) c.1146G>A (p.Pro382=) c.1128G>A (p.Pro376=) c.1026G>A (p.Pro342=) n.1332-259C>T c.1206G>A (p.Pro402=) c.1308G>A (p.Pro436=) c.1248G>A (p.Pro416=) n.3607-259C>T n.4043-259C>T c.1131G>A (p.Pro377=) c.1149G>A (p.Pro383=) c.906G>A (p.Pro302=) c.939G>A (p.Pro313=) c.957G>A (p.Pro319=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428523G>C | CA1859492 | PROC | c.963G>C (p.Pro321=) c.287G>C c.1065G>C (p.Pro355=) c.1146G>C (p.Pro382=) c.1128G>C (p.Pro376=) c.1026G>C (p.Pro342=) n.1332-259C>G c.1206G>C (p.Pro402=) c.1308G>C (p.Pro436=) c.1248G>C (p.Pro416=) n.3607-259C>G n.4043-259C>G c.1131G>C (p.Pro377=) c.1149G>C (p.Pro383=) c.906G>C (p.Pro302=) c.939G>C (p.Pro313=) c.957G>C (p.Pro319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428523G= | CA1286884509 | PROC | c.963G= (p.Pro321=) c.287G= c.1065G= (p.Pro355=) c.1146G= (p.Pro382=) c.1128G= (p.Pro376=) c.1026G= (p.Pro342=) n.1332-259C= c.1206G= (p.Pro402=) c.1308G= (p.Pro436=) c.1248G= (p.Pro416=) n.3607-259C= n.4043-259C= c.1131G= (p.Pro377=) c.1149G= (p.Pro383=) c.906G= (p.Pro302=) c.939G= (p.Pro313=) c.957G= (p.Pro319=) | |
2 | g.127428523G>T | CA428871675 | PROC | c.963G>T (p.Pro321=) c.287G>T c.1065G>T (p.Pro355=) c.1146G>T (p.Pro382=) c.1128G>T (p.Pro376=) c.1026G>T (p.Pro342=) n.1332-259C>A c.1206G>T (p.Pro402=) c.1308G>T (p.Pro436=) c.1248G>T (p.Pro416=) n.3607-259C>A n.4043-259C>A c.1131G>T (p.Pro377=) c.1149G>T (p.Pro383=) c.906G>T (p.Pro302=) c.939G>T (p.Pro313=) c.957G>T (p.Pro319=) | |
2 | g.127428524del | CA2586969912 | PROC | c.964del (p.Asp322ThrfsTer18) c.288del c.1066del (p.Asp356ThrfsTer18) c.1147del (p.Asp383ThrfsTer18) c.1129del (p.Asp377ThrfsTer18) c.1027del (p.Asp343ThrfsTer18) n.1332-259del c.1207del (p.Asp403ThrfsTer18) c.1309del (p.Asp437ThrfsTer18) c.1249del (p.Asp417ThrfsTer18) n.3607-259del n.4043-259del c.1132del (p.Asp378ThrfsTer18) c.1150del (p.Asp384ThrfsTer18) c.907del (p.Asp303ThrfsTer18) c.940del (p.Asp314ThrfsTer18) c.958del (p.Asp320ThrfsTer18) | gnomAD v4 |
2 | g.127428524G>A | CA348405110 | PROC | c.964G>A (p.Asp322Asn) c.288G>A c.1066G>A (p.Asp356Asn) c.1147G>A (p.Asp383Asn) c.1129G>A (p.Asp377Asn) c.1027G>A (p.Asp343Asn) n.1332-260C>T c.1207G>A (p.Asp403Asn) c.1309G>A (p.Asp437Asn) c.1249G>A (p.Asp417Asn) n.3607-260C>T n.4043-260C>T c.1132G>A (p.Asp378Asn) c.1150G>A (p.Asp384Asn) c.907G>A (p.Asp303Asn) c.940G>A (p.Asp314Asn) c.958G>A (p.Asp320Asn) | |
2 | g.127428524G>C | CA348405113 | PROC | c.964G>C (p.Asp322His) c.288G>C c.1066G>C (p.Asp356His) c.1147G>C (p.Asp383His) c.1129G>C (p.Asp377His) c.1027G>C (p.Asp343His) n.1332-260C>G c.1207G>C (p.Asp403His) c.1309G>C (p.Asp437His) c.1249G>C (p.Asp417His) n.3607-260C>G n.4043-260C>G c.1132G>C (p.Asp378His) c.1150G>C (p.Asp384His) c.907G>C (p.Asp303His) c.940G>C (p.Asp314His) c.958G>C (p.Asp320His) | |
2 | g.127428524G>T | CA348405115 | PROC | c.964G>T (p.Asp322Tyr) c.288G>T c.1066G>T (p.Asp356Tyr) c.1147G>T (p.Asp383Tyr) c.1129G>T (p.Asp377Tyr) c.1027G>T (p.Asp343Tyr) n.1332-260C>A c.1207G>T (p.Asp403Tyr) c.1309G>T (p.Asp437Tyr) c.1249G>T (p.Asp417Tyr) n.3607-260C>A n.4043-260C>A c.1132G>T (p.Asp378Tyr) c.1150G>T (p.Asp384Tyr) c.907G>T (p.Asp303Tyr) c.940G>T (p.Asp314Tyr) c.958G>T (p.Asp320Tyr) | |
2 | g.127428525A>C | CA348405123 | PROC | c.965A>C (p.Asp322Ala) c.289A>C c.1067A>C (p.Asp356Ala) c.1148A>C (p.Asp383Ala) c.1130A>C (p.Asp377Ala) c.1028A>C (p.Asp343Ala) n.1332-261T>G c.1208A>C (p.Asp403Ala) c.1310A>C (p.Asp437Ala) c.1250A>C (p.Asp417Ala) n.3607-261T>G n.4043-261T>G c.1133A>C (p.Asp378Ala) c.1151A>C (p.Asp384Ala) c.908A>C (p.Asp303Ala) c.941A>C (p.Asp314Ala) c.959A>C (p.Asp320Ala) | |
2 | g.127428525A>G | CA348405121 | PROC | c.965A>G (p.Asp322Gly) c.289A>G c.1067A>G (p.Asp356Gly) c.1148A>G (p.Asp383Gly) c.1130A>G (p.Asp377Gly) c.1028A>G (p.Asp343Gly) n.1332-261T>C c.1208A>G (p.Asp403Gly) c.1310A>G (p.Asp437Gly) c.1250A>G (p.Asp417Gly) n.3607-261T>C n.4043-261T>C c.1133A>G (p.Asp378Gly) c.1151A>G (p.Asp384Gly) c.908A>G (p.Asp303Gly) c.941A>G (p.Asp314Gly) c.959A>G (p.Asp320Gly) | ClinVar dbSNP |
2 | g.127428525A>T | CA348405118 | PROC | c.965A>T (p.Asp322Val) c.289A>T c.1067A>T (p.Asp356Val) c.1148A>T (p.Asp383Val) c.1130A>T (p.Asp377Val) c.1028A>T (p.Asp343Val) n.1332-261T>A c.1208A>T (p.Asp403Val) c.1310A>T (p.Asp437Val) c.1250A>T (p.Asp417Val) n.3607-261T>A n.4043-261T>A c.1133A>T (p.Asp378Val) c.1151A>T (p.Asp384Val) c.908A>T (p.Asp303Val) c.941A>T (p.Asp314Val) c.959A>T (p.Asp320Val) | |
2 | g.127428526C>A | CA348405126 | PROC | c.966C>A (p.Asp322Glu) c.290C>A c.1068C>A (p.Asp356Glu) c.1149C>A (p.Asp383Glu) c.1131C>A (p.Asp377Glu) c.1029C>A (p.Asp343Glu) n.1332-262G>T c.1209C>A (p.Asp403Glu) c.1311C>A (p.Asp437Glu) c.1251C>A (p.Asp417Glu) n.3607-262G>T n.4043-262G>T c.1134C>A (p.Asp378Glu) c.1152C>A (p.Asp384Glu) c.909C>A (p.Asp303Glu) c.942C>A (p.Asp314Glu) c.960C>A (p.Asp320Glu) | |
2 | g.127428526C= | CA1286884510 | PROC | c.966C= (p.Asp322=) c.290C= c.1068C= (p.Asp356=) c.1149C= (p.Asp383=) c.1131C= (p.Asp377=) c.1029C= (p.Asp343=) n.1332-262G= c.1209C= (p.Asp403=) c.1311C= (p.Asp437=) c.1251C= (p.Asp417=) n.3607-262G= n.4043-262G= c.1134C= (p.Asp378=) c.1152C= (p.Asp384=) c.909C= (p.Asp303=) c.942C= (p.Asp314=) c.960C= (p.Asp320=) | |
2 | g.127428526C>G | CA348405127 | PROC | c.966C>G (p.Asp322Glu) c.290C>G c.1068C>G (p.Asp356Glu) c.1149C>G (p.Asp383Glu) c.1131C>G (p.Asp377Glu) c.1029C>G (p.Asp343Glu) n.1332-262G>C c.1209C>G (p.Asp403Glu) c.1311C>G (p.Asp437Glu) c.1251C>G (p.Asp417Glu) n.3607-262G>C n.4043-262G>C c.1134C>G (p.Asp378Glu) c.1152C>G (p.Asp384Glu) c.909C>G (p.Asp303Glu) c.942C>G (p.Asp314Glu) c.960C>G (p.Asp320Glu) | |
2 | g.127428526C>T | CA1859494 | PROC | c.966C>T (p.Asp322=) c.290C>T c.1068C>T (p.Asp356=) c.1149C>T (p.Asp383=) c.1131C>T (p.Asp377=) c.1029C>T (p.Asp343=) n.1332-262G>A c.1209C>T (p.Asp403=) c.1311C>T (p.Asp437=) c.1251C>T (p.Asp417=) n.3607-262G>A n.4043-262G>A c.1134C>T (p.Asp378=) c.1152C>T (p.Asp384=) c.909C>T (p.Asp303=) c.942C>T (p.Asp314=) c.960C>T (p.Asp320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428529_127428539del | CA2586969913 | PROC | c.969_979del (p.Ser323ArgfsTer?) c.293_303del c.1071_1081del (p.Ser357ArgfsTer?) c.1152_1162del (p.Ser384ArgfsTer?) c.1134_1144del (p.Ser378ArgfsTer?) c.1032_1042del (p.Ser344ArgfsTer?) n.1332-272_1332-262del c.1212_1222del (p.Ser404ArgfsTer?) c.1314_1324del (p.Ser438ArgfsTer?) c.1254_1264del (p.Ser418ArgfsTer?) n.3607-272_3607-262del n.4043-272_4043-262del c.1137_1147del (p.Ser379ArgfsTer?) c.1155_1165del (p.Ser385ArgfsTer?) c.912_922del (p.Ser304ArgfsTer?) c.945_955del (p.Ser315ArgfsTer?) c.963_973del (p.Ser321ArgfsTer?) | |
2 | g.127428527A>C | CA348405129 | PROC | c.967A>C (p.Ser323Arg) c.291A>C c.1069A>C (p.Ser357Arg) c.1150A>C (p.Ser384Arg) c.1132A>C (p.Ser378Arg) c.1030A>C (p.Ser344Arg) n.1332-263T>G c.1210A>C (p.Ser404Arg) c.1312A>C (p.Ser438Arg) c.1252A>C (p.Ser418Arg) n.3607-263T>G n.4043-263T>G c.1135A>C (p.Ser379Arg) c.1153A>C (p.Ser385Arg) c.910A>C (p.Ser304Arg) c.943A>C (p.Ser315Arg) c.961A>C (p.Ser321Arg) | gnomAD v4 |
2 | g.127428527A>G | CA348405131 | PROC | c.967A>G (p.Ser323Gly) c.291A>G c.1069A>G (p.Ser357Gly) c.1150A>G (p.Ser384Gly) c.1132A>G (p.Ser378Gly) c.1030A>G (p.Ser344Gly) n.1332-263T>C c.1210A>G (p.Ser404Gly) c.1312A>G (p.Ser438Gly) c.1252A>G (p.Ser418Gly) n.3607-263T>C n.4043-263T>C c.1135A>G (p.Ser379Gly) c.1153A>G (p.Ser385Gly) c.910A>G (p.Ser304Gly) c.943A>G (p.Ser315Gly) c.961A>G (p.Ser321Gly) | |
2 | g.127428527A>T | CA348405133 | PROC | c.967A>T (p.Ser323Cys) c.291A>T c.1069A>T (p.Ser357Cys) c.1150A>T (p.Ser384Cys) c.1132A>T (p.Ser378Cys) c.1030A>T (p.Ser344Cys) n.1332-263T>A c.1210A>T (p.Ser404Cys) c.1312A>T (p.Ser438Cys) c.1252A>T (p.Ser418Cys) n.3607-263T>A n.4043-263T>A c.1135A>T (p.Ser379Cys) c.1153A>T (p.Ser385Cys) c.910A>T (p.Ser304Cys) c.943A>T (p.Ser315Cys) c.961A>T (p.Ser321Cys) | |
2 | g.127428528G>A | CA348405136 | PROC | c.968G>A (p.Ser323Asn) c.292G>A c.1070G>A (p.Ser357Asn) c.1151G>A (p.Ser384Asn) c.1133G>A (p.Ser378Asn) c.1031G>A (p.Ser344Asn) n.1332-264C>T c.1211G>A (p.Ser404Asn) c.1313G>A (p.Ser438Asn) c.1253G>A (p.Ser418Asn) n.3607-264C>T n.4043-264C>T c.1136G>A (p.Ser379Asn) c.1154G>A (p.Ser385Asn) c.911G>A (p.Ser304Asn) c.944G>A (p.Ser315Asn) c.962G>A (p.Ser321Asn) |