Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428509C>A | CA348405012 | PROC | c.949C>A (p.Pro317Thr) c.273C>A c.1051C>A (p.Pro351Thr) c.1132C>A (p.Pro378Thr) c.1114C>A (p.Pro372Thr) c.1012C>A (p.Pro338Thr) n.1332-245G>T c.1192C>A (p.Pro398Thr) c.1294C>A (p.Pro432Thr) c.1234C>A (p.Pro412Thr) n.3607-245G>T n.4043-245G>T c.1117C>A (p.Pro373Thr) c.1135C>A (p.Pro379Thr) c.892C>A (p.Pro298Thr) c.925C>A (p.Pro309Thr) c.943C>A (p.Pro315Thr) | |
2 | g.127428509C>G | CA348405009 | PROC | c.949C>G (p.Pro317Ala) c.273C>G c.1051C>G (p.Pro351Ala) c.1132C>G (p.Pro378Ala) c.1114C>G (p.Pro372Ala) c.1012C>G (p.Pro338Ala) n.1332-245G>C c.1192C>G (p.Pro398Ala) c.1294C>G (p.Pro432Ala) c.1234C>G (p.Pro412Ala) n.3607-245G>C n.4043-245G>C c.1117C>G (p.Pro373Ala) c.1135C>G (p.Pro379Ala) c.892C>G (p.Pro298Ala) c.925C>G (p.Pro309Ala) c.943C>G (p.Pro315Ala) | |
2 | g.127428509C>T | CA348405008 | PROC | c.949C>T (p.Pro317Ser) c.273C>T c.1051C>T (p.Pro351Ser) c.1132C>T (p.Pro378Ser) c.1114C>T (p.Pro372Ser) c.1012C>T (p.Pro338Ser) n.1332-245G>A c.1192C>T (p.Pro398Ser) c.1294C>T (p.Pro432Ser) c.1234C>T (p.Pro412Ser) n.3607-245G>A n.4043-245G>A c.1117C>T (p.Pro373Ser) c.1135C>T (p.Pro379Ser) c.892C>T (p.Pro298Ser) c.925C>T (p.Pro309Ser) c.943C>T (p.Pro315Ser) | |
2 | g.127428510C>A | CA348405017 | PROC | c.950C>A (p.Pro317His) c.274C>A c.1052C>A (p.Pro351His) c.1133C>A (p.Pro378His) c.1115C>A (p.Pro372His) c.1013C>A (p.Pro338His) n.1332-246G>T c.1193C>A (p.Pro398His) c.1295C>A (p.Pro432His) c.1235C>A (p.Pro412His) n.3607-246G>T n.4043-246G>T c.1118C>A (p.Pro373His) c.1136C>A (p.Pro379His) c.893C>A (p.Pro298His) c.926C>A (p.Pro309His) c.944C>A (p.Pro315His) | |
2 | g.127428510C>G | CA348405025 | PROC | c.950C>G (p.Pro317Arg) c.274C>G c.1052C>G (p.Pro351Arg) c.1133C>G (p.Pro378Arg) c.1115C>G (p.Pro372Arg) c.1013C>G (p.Pro338Arg) n.1332-246G>C c.1193C>G (p.Pro398Arg) c.1295C>G (p.Pro432Arg) c.1235C>G (p.Pro412Arg) n.3607-246G>C n.4043-246G>C c.1118C>G (p.Pro373Arg) c.1136C>G (p.Pro379Arg) c.893C>G (p.Pro298Arg) c.926C>G (p.Pro309Arg) c.944C>G (p.Pro315Arg) | |
2 | g.127428510C>T | CA348405020 | PROC | c.950C>T (p.Pro317Leu) c.274C>T c.1052C>T (p.Pro351Leu) c.1133C>T (p.Pro378Leu) c.1115C>T (p.Pro372Leu) c.1013C>T (p.Pro338Leu) n.1332-246G>A c.1193C>T (p.Pro398Leu) c.1295C>T (p.Pro432Leu) c.1235C>T (p.Pro412Leu) n.3607-246G>A n.4043-246G>A c.1118C>T (p.Pro373Leu) c.1136C>T (p.Pro379Leu) c.893C>T (p.Pro298Leu) c.926C>T (p.Pro309Leu) c.944C>T (p.Pro315Leu) | |
2 | g.127428511C>A | CA1859491 | PROC | c.951C>A (p.Pro317=) c.275C>A c.1053C>A (p.Pro351=) c.1134C>A (p.Pro378=) c.1116C>A (p.Pro372=) c.1014C>A (p.Pro338=) n.1332-247G>T c.1194C>A (p.Pro398=) c.1296C>A (p.Pro432=) c.1236C>A (p.Pro412=) n.3607-247G>T n.4043-247G>T c.1119C>A (p.Pro373=) c.1137C>A (p.Pro379=) c.894C>A (p.Pro298=) c.927C>A (p.Pro309=) c.945C>A (p.Pro315=) | dbSNP ExAC |
2 | g.127428511C= | CA1286884506 | PROC | c.951C= (p.Pro317=) c.275C= c.1053C= (p.Pro351=) c.1134C= (p.Pro378=) c.1116C= (p.Pro372=) c.1014C= (p.Pro338=) n.1332-247G= c.1194C= (p.Pro398=) c.1296C= (p.Pro432=) c.1236C= (p.Pro412=) n.3607-247G= n.4043-247G= c.1119C= (p.Pro373=) c.1137C= (p.Pro379=) c.894C= (p.Pro298=) c.927C= (p.Pro309=) c.945C= (p.Pro315=) | |
2 | g.127428511C>G | CA428871601 | PROC | c.951C>G (p.Pro317=) c.275C>G c.1053C>G (p.Pro351=) c.1134C>G (p.Pro378=) c.1116C>G (p.Pro372=) c.1014C>G (p.Pro338=) n.1332-247G>C c.1194C>G (p.Pro398=) c.1296C>G (p.Pro432=) c.1236C>G (p.Pro412=) n.3607-247G>C n.4043-247G>C c.1119C>G (p.Pro373=) c.1137C>G (p.Pro379=) c.894C>G (p.Pro298=) c.927C>G (p.Pro309=) c.945C>G (p.Pro315=) | |
2 | g.127428511C>T | CA428871599 | PROC | c.951C>T (p.Pro317=) c.275C>T c.1053C>T (p.Pro351=) c.1134C>T (p.Pro378=) c.1116C>T (p.Pro372=) c.1014C>T (p.Pro338=) n.1332-247G>A c.1194C>T (p.Pro398=) c.1296C>T (p.Pro432=) c.1236C>T (p.Pro412=) n.3607-247G>A n.4043-247G>A c.1119C>T (p.Pro373=) c.1137C>T (p.Pro379=) c.894C>T (p.Pro298=) c.927C>T (p.Pro309=) c.945C>T (p.Pro315=) | |
2 | g.127428512A>C | CA348405027 | PROC | c.952A>C (p.Ile318Leu) c.276A>C c.1054A>C (p.Ile352Leu) c.1135A>C (p.Ile379Leu) c.1117A>C (p.Ile373Leu) c.1015A>C (p.Ile339Leu) n.1332-248T>G c.1195A>C (p.Ile399Leu) c.1297A>C (p.Ile433Leu) c.1237A>C (p.Ile413Leu) n.3607-248T>G n.4043-248T>G c.1120A>C (p.Ile374Leu) c.1138A>C (p.Ile380Leu) c.895A>C (p.Ile299Leu) c.928A>C (p.Ile310Leu) c.946A>C (p.Ile316Leu) | |
2 | g.127428512A>G | CA348405030 | PROC | c.952A>G (p.Ile318Val) c.276A>G c.1054A>G (p.Ile352Val) c.1135A>G (p.Ile379Val) c.1117A>G (p.Ile373Val) c.1015A>G (p.Ile339Val) n.1332-248T>C c.1195A>G (p.Ile399Val) c.1297A>G (p.Ile433Val) c.1237A>G (p.Ile413Val) n.3607-248T>C n.4043-248T>C c.1120A>G (p.Ile374Val) c.1138A>G (p.Ile380Val) c.895A>G (p.Ile299Val) c.928A>G (p.Ile310Val) c.946A>G (p.Ile316Val) | |
2 | g.127428512A>T | CA348405031 | PROC | c.952A>T (p.Ile318Phe) c.276A>T c.1054A>T (p.Ile352Phe) c.1135A>T (p.Ile379Phe) c.1117A>T (p.Ile373Phe) c.1015A>T (p.Ile339Phe) n.1332-248T>A c.1195A>T (p.Ile399Phe) c.1297A>T (p.Ile433Phe) c.1237A>T (p.Ile413Phe) n.3607-248T>A n.4043-248T>A c.1120A>T (p.Ile374Phe) c.1138A>T (p.Ile380Phe) c.895A>T (p.Ile299Phe) c.928A>T (p.Ile310Phe) c.946A>T (p.Ile316Phe) | |
2 | g.127428513T>A | CA348405043 | PROC | c.953T>A (p.Ile318Asn) c.277T>A c.1055T>A (p.Ile352Asn) c.1136T>A (p.Ile379Asn) c.1118T>A (p.Ile373Asn) c.1016T>A (p.Ile339Asn) n.1332-249A>T c.1196T>A (p.Ile399Asn) c.1298T>A (p.Ile433Asn) c.1238T>A (p.Ile413Asn) n.3607-249A>T n.4043-249A>T c.1121T>A (p.Ile374Asn) c.1139T>A (p.Ile380Asn) c.896T>A (p.Ile299Asn) c.929T>A (p.Ile310Asn) c.947T>A (p.Ile316Asn) | |
2 | g.127428513T>C | CA348405046 | PROC | c.953T>C (p.Ile318Thr) c.277T>C c.1055T>C (p.Ile352Thr) c.1136T>C (p.Ile379Thr) c.1118T>C (p.Ile373Thr) c.1016T>C (p.Ile339Thr) n.1332-249A>G c.1196T>C (p.Ile399Thr) c.1298T>C (p.Ile433Thr) c.1238T>C (p.Ile413Thr) n.3607-249A>G n.4043-249A>G c.1121T>C (p.Ile374Thr) c.1139T>C (p.Ile380Thr) c.896T>C (p.Ile299Thr) c.929T>C (p.Ile310Thr) c.947T>C (p.Ile316Thr) | |
2 | g.127428513T>G | CA348405048 | PROC | c.953T>G (p.Ile318Ser) c.277T>G c.1055T>G (p.Ile352Ser) c.1136T>G (p.Ile379Ser) c.1118T>G (p.Ile373Ser) c.1016T>G (p.Ile339Ser) n.1332-249A>C c.1196T>G (p.Ile399Ser) c.1298T>G (p.Ile433Ser) c.1238T>G (p.Ile413Ser) n.3607-249A>C n.4043-249A>C c.1121T>G (p.Ile374Ser) c.1139T>G (p.Ile380Ser) c.896T>G (p.Ile299Ser) c.929T>G (p.Ile310Ser) c.947T>G (p.Ile316Ser) | |
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=) |