Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428505A= | CA1286884503 | PROC | c.945A= (p.Ile315=) c.269A= c.1047A= (p.Ile349=) c.1128A= (p.Ile376=) c.1110A= (p.Ile370=) c.1008A= (p.Ile336=) n.1332-241T= c.1188A= (p.Ile396=) c.1290A= (p.Ile430=) c.1230A= (p.Ile410=) n.3607-241T= n.4043-241T= c.1113A= (p.Ile371=) c.1131A= (p.Ile377=) c.888A= (p.Ile296=) c.921A= (p.Ile307=) c.939A= (p.Ile313=) | |
2 | g.127428505A>C | CA428871573 | PROC | c.945A>C (p.Ile315=) c.269A>C c.1047A>C (p.Ile349=) c.1128A>C (p.Ile376=) c.1110A>C (p.Ile370=) c.1008A>C (p.Ile336=) n.1332-241T>G c.1188A>C (p.Ile396=) c.1290A>C (p.Ile430=) c.1230A>C (p.Ile410=) n.3607-241T>G n.4043-241T>G c.1113A>C (p.Ile371=) c.1131A>C (p.Ile377=) c.888A>C (p.Ile296=) c.921A>C (p.Ile307=) c.939A>C (p.Ile313=) | |
2 | g.127428505A>G | CA348404995 | PROC | c.945A>G (p.Ile315Met) c.269A>G c.1047A>G (p.Ile349Met) c.1128A>G (p.Ile376Met) c.1110A>G (p.Ile370Met) c.1008A>G (p.Ile336Met) n.1332-241T>C c.1188A>G (p.Ile396Met) c.1290A>G (p.Ile430Met) c.1230A>G (p.Ile410Met) n.3607-241T>C n.4043-241T>C c.1113A>G (p.Ile371Met) c.1131A>G (p.Ile377Met) c.888A>G (p.Ile296Met) c.921A>G (p.Ile307Met) c.939A>G (p.Ile313Met) | ClinVar dbSNP |
2 | g.127428505A>T | CA428871576 | PROC | c.945A>T (p.Ile315=) c.269A>T c.1047A>T (p.Ile349=) c.1128A>T (p.Ile376=) c.1110A>T (p.Ile370=) c.1008A>T (p.Ile336=) n.1332-241T>A c.1188A>T (p.Ile396=) c.1290A>T (p.Ile430=) c.1230A>T (p.Ile410=) n.3607-241T>A n.4043-241T>A c.1113A>T (p.Ile371=) c.1131A>T (p.Ile377=) c.888A>T (p.Ile296=) c.921A>T (p.Ile307=) c.939A>T (p.Ile313=) | |
2 | g.127428506G>A | CA55350797 | PROC | c.946G>A (p.Val316Met) c.270G>A c.1048G>A (p.Val350Met) c.1129G>A (p.Val377Met) c.1111G>A (p.Val371Met) c.1009G>A (p.Val337Met) n.1332-242C>T c.1189G>A (p.Val397Met) c.1291G>A (p.Val431Met) c.1231G>A (p.Val411Met) n.3607-242C>T n.4043-242C>T c.1114G>A (p.Val372Met) c.1132G>A (p.Val378Met) c.889G>A (p.Val297Met) c.922G>A (p.Val308Met) c.940G>A (p.Val314Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428506G>C | CA348404998 | PROC | c.946G>C (p.Val316Leu) c.270G>C c.1048G>C (p.Val350Leu) c.1129G>C (p.Val377Leu) c.1111G>C (p.Val371Leu) c.1009G>C (p.Val337Leu) n.1332-242C>G c.1189G>C (p.Val397Leu) c.1291G>C (p.Val431Leu) c.1231G>C (p.Val411Leu) n.3607-242C>G n.4043-242C>G c.1114G>C (p.Val372Leu) c.1132G>C (p.Val378Leu) c.889G>C (p.Val297Leu) c.922G>C (p.Val308Leu) c.940G>C (p.Val314Leu) | gnomAD v4 |
2 | g.127428506G= | CA1286884504 | PROC | c.946G= (p.Val316=) c.270G= c.1048G= (p.Val350=) c.1129G= (p.Val377=) c.1111G= (p.Val371=) c.1009G= (p.Val337=) n.1332-242C= c.1189G= (p.Val397=) c.1291G= (p.Val431=) c.1231G= (p.Val411=) n.3607-242C= n.4043-242C= c.1114G= (p.Val372=) c.1132G= (p.Val378=) c.889G= (p.Val297=) c.922G= (p.Val308=) c.940G= (p.Val314=) | |
2 | g.127428506G>T | CA348404999 | PROC | c.946G>T (p.Val316Leu) c.270G>T c.1048G>T (p.Val350Leu) c.1129G>T (p.Val377Leu) c.1111G>T (p.Val371Leu) c.1009G>T (p.Val337Leu) n.1332-242C>A c.1189G>T (p.Val397Leu) c.1291G>T (p.Val431Leu) c.1231G>T (p.Val411Leu) n.3607-242C>A n.4043-242C>A c.1114G>T (p.Val372Leu) c.1132G>T (p.Val378Leu) c.889G>T (p.Val297Leu) c.922G>T (p.Val308Leu) c.940G>T (p.Val314Leu) | |
2 | g.127428507T>A | CA348405002 | PROC | c.947T>A (p.Val316Glu) c.271T>A c.1049T>A (p.Val350Glu) c.1130T>A (p.Val377Glu) c.1112T>A (p.Val371Glu) c.1010T>A (p.Val337Glu) n.1332-243A>T c.1190T>A (p.Val397Glu) c.1292T>A (p.Val431Glu) c.1232T>A (p.Val411Glu) n.3607-243A>T n.4043-243A>T c.1115T>A (p.Val372Glu) c.1133T>A (p.Val378Glu) c.890T>A (p.Val297Glu) c.923T>A (p.Val308Glu) c.941T>A (p.Val314Glu) | |
2 | g.127428507T>C | CA348405005 | PROC | c.947T>C (p.Val316Ala) c.271T>C c.1049T>C (p.Val350Ala) c.1130T>C (p.Val377Ala) c.1112T>C (p.Val371Ala) c.1010T>C (p.Val337Ala) n.1332-243A>G c.1190T>C (p.Val397Ala) c.1292T>C (p.Val431Ala) c.1232T>C (p.Val411Ala) n.3607-243A>G n.4043-243A>G c.1115T>C (p.Val372Ala) c.1133T>C (p.Val378Ala) c.890T>C (p.Val297Ala) c.923T>C (p.Val308Ala) c.941T>C (p.Val314Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428507T>G | CA348405007 | PROC | c.947T>G (p.Val316Gly) c.271T>G c.1049T>G (p.Val350Gly) c.1130T>G (p.Val377Gly) c.1112T>G (p.Val371Gly) c.1010T>G (p.Val337Gly) n.1332-243A>C c.1190T>G (p.Val397Gly) c.1292T>G (p.Val431Gly) c.1232T>G (p.Val411Gly) n.3607-243A>C n.4043-243A>C c.1115T>G (p.Val372Gly) c.1133T>G (p.Val378Gly) c.890T>G (p.Val297Gly) c.923T>G (p.Val308Gly) c.941T>G (p.Val314Gly) | |
2 | g.127428507T= | CA1286884505 | PROC | c.947T= (p.Val316=) c.271T= c.1049T= (p.Val350=) c.1130T= (p.Val377=) c.1112T= (p.Val371=) c.1010T= (p.Val337=) n.1332-243A= c.1190T= (p.Val397=) c.1292T= (p.Val431=) c.1232T= (p.Val411=) n.3607-243A= n.4043-243A= c.1115T= (p.Val372=) c.1133T= (p.Val378=) c.890T= (p.Val297=) c.923T= (p.Val308=) c.941T= (p.Val314=) | |
2 | g.127428508G>A | CA428871584 | PROC | c.948G>A (p.Val316=) c.272G>A c.1050G>A (p.Val350=) c.1131G>A (p.Val377=) c.1113G>A (p.Val371=) c.1011G>A (p.Val337=) n.1332-244C>T c.1191G>A (p.Val397=) c.1293G>A (p.Val431=) c.1233G>A (p.Val411=) n.3607-244C>T n.4043-244C>T c.1116G>A (p.Val372=) c.1134G>A (p.Val378=) c.891G>A (p.Val297=) c.924G>A (p.Val308=) c.942G>A (p.Val314=) | |
2 | g.127428508G>C | CA428871585 | PROC | c.948G>C (p.Val316=) c.272G>C c.1050G>C (p.Val350=) c.1131G>C (p.Val377=) c.1113G>C (p.Val371=) c.1011G>C (p.Val337=) n.1332-244C>G c.1191G>C (p.Val397=) c.1293G>C (p.Val431=) c.1233G>C (p.Val411=) n.3607-244C>G n.4043-244C>G c.1116G>C (p.Val372=) c.1134G>C (p.Val378=) c.891G>C (p.Val297=) c.924G>C (p.Val308=) c.942G>C (p.Val314=) | |
2 | g.127428508G>T | CA428871587 | PROC | c.948G>T (p.Val316=) c.272G>T c.1050G>T (p.Val350=) c.1131G>T (p.Val377=) c.1113G>T (p.Val371=) c.1011G>T (p.Val337=) n.1332-244C>A c.1191G>T (p.Val397=) c.1293G>T (p.Val431=) c.1233G>T (p.Val411=) n.3607-244C>A n.4043-244C>A c.1116G>T (p.Val372=) c.1134G>T (p.Val378=) c.891G>T (p.Val297=) c.924G>T (p.Val308=) c.942G>T (p.Val314=) | |
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=) | |
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) | |
2 | g.127428528G>C | CA348405140 | PROC | c.968G>C (p.Ser323Thr) c.292G>C c.1070G>C (p.Ser357Thr) c.1151G>C (p.Ser384Thr) c.1133G>C (p.Ser378Thr) c.1031G>C (p.Ser344Thr) n.1332-264C>G c.1211G>C (p.Ser404Thr) c.1313G>C (p.Ser438Thr) c.1253G>C (p.Ser418Thr) n.3607-264C>G n.4043-264C>G c.1136G>C (p.Ser379Thr) c.1154G>C (p.Ser385Thr) c.911G>C (p.Ser304Thr) c.944G>C (p.Ser315Thr) c.962G>C (p.Ser321Thr) | |
2 | g.127428528G>T | CA348405138 | PROC | c.968G>T (p.Ser323Ile) c.292G>T c.1070G>T (p.Ser357Ile) c.1151G>T (p.Ser384Ile) c.1133G>T (p.Ser378Ile) c.1031G>T (p.Ser344Ile) n.1332-264C>A c.1211G>T (p.Ser404Ile) c.1313G>T (p.Ser438Ile) c.1253G>T (p.Ser418Ile) n.3607-264C>A n.4043-264C>A c.1136G>T (p.Ser379Ile) c.1154G>T (p.Ser385Ile) c.911G>T (p.Ser304Ile) c.944G>T (p.Ser315Ile) c.962G>T (p.Ser321Ile) | |
2 | g.127428529C>A | CA1859496 | PROC | c.969C>A (p.Ser323Arg) c.293C>A c.1071C>A (p.Ser357Arg) c.1152C>A (p.Ser384Arg) c.1134C>A (p.Ser378Arg) c.1032C>A (p.Ser344Arg) n.1332-265G>T c.1212C>A (p.Ser404Arg) c.1314C>A (p.Ser438Arg) c.1254C>A (p.Ser418Arg) n.3607-265G>T n.4043-265G>T c.1137C>A (p.Ser379Arg) c.1155C>A (p.Ser385Arg) c.912C>A (p.Ser304Arg) c.945C>A (p.Ser315Arg) c.963C>A (p.Ser321Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428529C= | CA1286884511 | PROC | c.969C= (p.Ser323=) c.293C= c.1071C= (p.Ser357=) c.1152C= (p.Ser384=) c.1134C= (p.Ser378=) c.1032C= (p.Ser344=) n.1332-265G= c.1212C= (p.Ser404=) c.1314C= (p.Ser438=) c.1254C= (p.Ser418=) n.3607-265G= n.4043-265G= c.1137C= (p.Ser379=) c.1155C= (p.Ser385=) c.912C= (p.Ser304=) c.945C= (p.Ser315=) c.963C= (p.Ser321=) | |
2 | g.127428529C>G | CA348405147 | PROC | c.969C>G (p.Ser323Arg) c.293C>G c.1071C>G (p.Ser357Arg) c.1152C>G (p.Ser384Arg) c.1134C>G (p.Ser378Arg) c.1032C>G (p.Ser344Arg) n.1332-265G>C c.1212C>G (p.Ser404Arg) c.1314C>G (p.Ser438Arg) c.1254C>G (p.Ser418Arg) n.3607-265G>C n.4043-265G>C c.1137C>G (p.Ser379Arg) c.1155C>G (p.Ser385Arg) c.912C>G (p.Ser304Arg) c.945C>G (p.Ser315Arg) c.963C>G (p.Ser321Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428529C>T | CA1859495 | PROC | c.969C>T (p.Ser323=) c.293C>T c.1071C>T (p.Ser357=) c.1152C>T (p.Ser384=) c.1134C>T (p.Ser378=) c.1032C>T (p.Ser344=) n.1332-265G>A c.1212C>T (p.Ser404=) c.1314C>T (p.Ser438=) c.1254C>T (p.Ser418=) n.3607-265G>A n.4043-265G>A c.1137C>T (p.Ser379=) c.1155C>T (p.Ser385=) c.912C>T (p.Ser304=) c.945C>T (p.Ser315=) c.963C>T (p.Ser321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428530G>A | CA1859497 | PROC | c.970G>A (p.Gly324Ser) c.294G>A c.1072G>A (p.Gly358Ser) c.1153G>A (p.Gly385Ser) c.1135G>A (p.Gly379Ser) c.1033G>A (p.Gly345Ser) n.1332-266C>T c.1213G>A (p.Gly405Ser) c.1315G>A (p.Gly439Ser) c.1255G>A (p.Gly419Ser) n.3607-266C>T n.4043-266C>T c.1138G>A (p.Gly380Ser) c.1156G>A (p.Gly386Ser) c.913G>A (p.Gly305Ser) c.946G>A (p.Gly316Ser) c.964G>A (p.Gly322Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428530G>C | CA348405154 | PROC | c.970G>C (p.Gly324Arg) c.294G>C c.1072G>C (p.Gly358Arg) c.1153G>C (p.Gly385Arg) c.1135G>C (p.Gly379Arg) c.1033G>C (p.Gly345Arg) n.1332-266C>G c.1213G>C (p.Gly405Arg) c.1315G>C (p.Gly439Arg) c.1255G>C (p.Gly419Arg) n.3607-266C>G n.4043-266C>G c.1138G>C (p.Gly380Arg) c.1156G>C (p.Gly386Arg) c.913G>C (p.Gly305Arg) c.946G>C (p.Gly316Arg) c.964G>C (p.Gly322Arg) | |
2 | g.127428530G= | CA1286884512 | PROC | c.970G= (p.Gly324=) c.294G= c.1072G= (p.Gly358=) c.1153G= (p.Gly385=) c.1135G= (p.Gly379=) c.1033G= (p.Gly345=) n.1332-266C= c.1213G= (p.Gly405=) c.1315G= (p.Gly439=) c.1255G= (p.Gly419=) n.3607-266C= n.4043-266C= c.1138G= (p.Gly380=) c.1156G= (p.Gly386=) c.913G= (p.Gly305=) c.946G= (p.Gly316=) c.964G= (p.Gly322=) | |
2 | g.127428530G>T | CA348405155 | PROC | c.970G>T (p.Gly324Cys) c.294G>T c.1072G>T (p.Gly358Cys) c.1153G>T (p.Gly385Cys) c.1135G>T (p.Gly379Cys) c.1033G>T (p.Gly345Cys) n.1332-266C>A c.1213G>T (p.Gly405Cys) c.1315G>T (p.Gly439Cys) c.1255G>T (p.Gly419Cys) n.3607-266C>A n.4043-266C>A c.1138G>T (p.Gly380Cys) c.1156G>T (p.Gly386Cys) c.913G>T (p.Gly305Cys) c.946G>T (p.Gly316Cys) c.964G>T (p.Gly322Cys) | |
2 | g.127428531G>A | CA348405156 | PROC | c.971G>A (p.Gly324Asp) c.295G>A c.1073G>A (p.Gly358Asp) c.1154G>A (p.Gly385Asp) c.1136G>A (p.Gly379Asp) c.1034G>A (p.Gly345Asp) n.1332-267C>T c.1214G>A (p.Gly405Asp) c.1316G>A (p.Gly439Asp) c.1256G>A (p.Gly419Asp) n.3607-267C>T n.4043-267C>T c.1139G>A (p.Gly380Asp) c.1157G>A (p.Gly386Asp) c.914G>A (p.Gly305Asp) c.947G>A (p.Gly316Asp) c.965G>A (p.Gly322Asp) | gnomAD v4 |
2 | g.127428531G>C | CA348405157 | PROC | c.971G>C (p.Gly324Ala) c.295G>C c.1073G>C (p.Gly358Ala) c.1154G>C (p.Gly385Ala) c.1136G>C (p.Gly379Ala) c.1034G>C (p.Gly345Ala) n.1332-267C>G c.1214G>C (p.Gly405Ala) c.1316G>C (p.Gly439Ala) c.1256G>C (p.Gly419Ala) n.3607-267C>G n.4043-267C>G c.1139G>C (p.Gly380Ala) c.1157G>C (p.Gly386Ala) c.914G>C (p.Gly305Ala) c.947G>C (p.Gly316Ala) c.965G>C (p.Gly322Ala) | |
2 | g.127428531G>T | CA348405160 | PROC | c.971G>T (p.Gly324Val) c.295G>T c.1073G>T (p.Gly358Val) c.1154G>T (p.Gly385Val) c.1136G>T (p.Gly379Val) c.1034G>T (p.Gly345Val) n.1332-267C>A c.1214G>T (p.Gly405Val) c.1316G>T (p.Gly439Val) c.1256G>T (p.Gly419Val) n.3607-267C>A n.4043-267C>A c.1139G>T (p.Gly380Val) c.1157G>T (p.Gly386Val) c.914G>T (p.Gly305Val) c.947G>T (p.Gly316Val) c.965G>T (p.Gly322Val) | |
2 | g.127428532C>A | CA428871714 | PROC | c.972C>A (p.Gly324=) c.296C>A c.1074C>A (p.Gly358=) c.1155C>A (p.Gly385=) c.1137C>A (p.Gly379=) c.1035C>A (p.Gly345=) n.1332-268G>T c.1215C>A (p.Gly405=) c.1317C>A (p.Gly439=) c.1257C>A (p.Gly419=) n.3607-268G>T n.4043-268G>T c.1140C>A (p.Gly380=) c.1158C>A (p.Gly386=) c.915C>A (p.Gly305=) c.948C>A (p.Gly316=) c.966C>A (p.Gly322=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428532C= | CA1286884513 | PROC | c.972C= (p.Gly324=) c.296C= c.1074C= (p.Gly358=) c.1155C= (p.Gly385=) c.1137C= (p.Gly379=) c.1035C= (p.Gly345=) n.1332-268G= c.1215C= (p.Gly405=) c.1317C= (p.Gly439=) c.1257C= (p.Gly419=) n.3607-268G= n.4043-268G= c.1140C= (p.Gly380=) c.1158C= (p.Gly386=) c.915C= (p.Gly305=) c.948C= (p.Gly316=) c.966C= (p.Gly322=) | |
2 | g.127428532C>G | CA428871713 | PROC | c.972C>G (p.Gly324=) c.296C>G c.1074C>G (p.Gly358=) c.1155C>G (p.Gly385=) c.1137C>G (p.Gly379=) c.1035C>G (p.Gly345=) n.1332-268G>C c.1215C>G (p.Gly405=) c.1317C>G (p.Gly439=) c.1257C>G (p.Gly419=) n.3607-268G>C n.4043-268G>C c.1140C>G (p.Gly380=) c.1158C>G (p.Gly386=) c.915C>G (p.Gly305=) c.948C>G (p.Gly316=) c.966C>G (p.Gly322=) | |
2 | g.127428532C>T | CA428871716 | PROC | c.972C>T (p.Gly324=) c.296C>T c.1074C>T (p.Gly358=) c.1155C>T (p.Gly385=) c.1137C>T (p.Gly379=) c.1035C>T (p.Gly345=) n.1332-268G>A c.1215C>T (p.Gly405=) c.1317C>T (p.Gly439=) c.1257C>T (p.Gly419=) n.3607-268G>A n.4043-268G>A c.1140C>T (p.Gly380=) c.1158C>T (p.Gly386=) c.915C>T (p.Gly305=) c.948C>T (p.Gly316=) c.966C>T (p.Gly322=) | |
2 | g.127428533C>A | CA348405166 | PROC | c.973C>A (p.Leu325Ile) c.297C>A c.1075C>A (p.Leu359Ile) c.1156C>A (p.Leu386Ile) c.1138C>A (p.Leu380Ile) c.1036C>A (p.Leu346Ile) n.1332-269G>T c.1216C>A (p.Leu406Ile) c.1318C>A (p.Leu440Ile) c.1258C>A (p.Leu420Ile) n.3607-269G>T n.4043-269G>T c.1141C>A (p.Leu381Ile) c.1159C>A (p.Leu387Ile) c.916C>A (p.Leu306Ile) c.949C>A (p.Leu317Ile) c.967C>A (p.Leu323Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428533C= | CA1286884514 | PROC | c.973C= (p.Leu325=) c.297C= c.1075C= (p.Leu359=) c.1156C= (p.Leu386=) c.1138C= (p.Leu380=) c.1036C= (p.Leu346=) n.1332-269G= c.1216C= (p.Leu406=) c.1318C= (p.Leu440=) c.1258C= (p.Leu420=) n.3607-269G= n.4043-269G= c.1141C= (p.Leu381=) c.1159C= (p.Leu387=) c.916C= (p.Leu306=) c.949C= (p.Leu317=) c.967C= (p.Leu323=) | |
2 | g.127428533C>G | CA348405168 | PROC | c.973C>G (p.Leu325Val) c.297C>G c.1075C>G (p.Leu359Val) c.1156C>G (p.Leu386Val) c.1138C>G (p.Leu380Val) c.1036C>G (p.Leu346Val) n.1332-269G>C c.1216C>G (p.Leu406Val) c.1318C>G (p.Leu440Val) c.1258C>G (p.Leu420Val) n.3607-269G>C n.4043-269G>C c.1141C>G (p.Leu381Val) c.1159C>G (p.Leu387Val) c.916C>G (p.Leu306Val) c.949C>G (p.Leu317Val) c.967C>G (p.Leu323Val) | |
2 | g.127428533C>T | CA348405170 | PROC | c.973C>T (p.Leu325Phe) c.297C>T c.1075C>T (p.Leu359Phe) c.1156C>T (p.Leu386Phe) c.1138C>T (p.Leu380Phe) c.1036C>T (p.Leu346Phe) n.1332-269G>A c.1216C>T (p.Leu406Phe) c.1318C>T (p.Leu440Phe) c.1258C>T (p.Leu420Phe) n.3607-269G>A n.4043-269G>A c.1141C>T (p.Leu381Phe) c.1159C>T (p.Leu387Phe) c.916C>T (p.Leu306Phe) c.949C>T (p.Leu317Phe) c.967C>T (p.Leu323Phe) | |
2 | g.127428534T>A | CA348405185 | PROC | c.974T>A (p.Leu325His) c.298T>A c.1076T>A (p.Leu359His) c.1157T>A (p.Leu386His) c.1139T>A (p.Leu380His) c.1037T>A (p.Leu346His) n.1332-270A>T c.1217T>A (p.Leu406His) c.1319T>A (p.Leu440His) c.1259T>A (p.Leu420His) n.3607-270A>T n.4043-270A>T c.1142T>A (p.Leu381His) c.1160T>A (p.Leu387His) c.917T>A (p.Leu306His) c.950T>A (p.Leu317His) c.968T>A (p.Leu323His) | |
2 | g.127428534T>C | CA348405184 | PROC | c.974T>C (p.Leu325Pro) c.298T>C c.1076T>C (p.Leu359Pro) c.1157T>C (p.Leu386Pro) c.1139T>C (p.Leu380Pro) c.1037T>C (p.Leu346Pro) n.1332-270A>G c.1217T>C (p.Leu406Pro) c.1319T>C (p.Leu440Pro) c.1259T>C (p.Leu420Pro) n.3607-270A>G n.4043-270A>G c.1142T>C (p.Leu381Pro) c.1160T>C (p.Leu387Pro) c.917T>C (p.Leu306Pro) c.950T>C (p.Leu317Pro) c.968T>C (p.Leu323Pro) | |
2 | g.127428534T>G | CA348405182 | PROC | c.974T>G (p.Leu325Arg) c.298T>G c.1076T>G (p.Leu359Arg) c.1157T>G (p.Leu386Arg) c.1139T>G (p.Leu380Arg) c.1037T>G (p.Leu346Arg) n.1332-270A>C c.1217T>G (p.Leu406Arg) c.1319T>G (p.Leu440Arg) c.1259T>G (p.Leu420Arg) n.3607-270A>C n.4043-270A>C c.1142T>G (p.Leu381Arg) c.1160T>G (p.Leu387Arg) c.917T>G (p.Leu306Arg) c.950T>G (p.Leu317Arg) c.968T>G (p.Leu323Arg) | dbSNP |
2 | g.127428534T= | CA1286884515 | PROC | c.974T= (p.Leu325=) c.298T= c.1076T= (p.Leu359=) c.1157T= (p.Leu386=) c.1139T= (p.Leu380=) c.1037T= (p.Leu346=) n.1332-270A= c.1217T= (p.Leu406=) c.1319T= (p.Leu440=) c.1259T= (p.Leu420=) n.3607-270A= n.4043-270A= c.1142T= (p.Leu381=) c.1160T= (p.Leu387=) c.917T= (p.Leu306=) c.950T= (p.Leu317=) c.968T= (p.Leu323=) | |
2 | g.127428535T>A | CA428871730 | PROC | c.975T>A (p.Leu325=) c.299T>A c.1077T>A (p.Leu359=) c.1158T>A (p.Leu386=) c.1140T>A (p.Leu380=) c.1038T>A (p.Leu346=) n.1332-271A>T c.1218T>A (p.Leu406=) c.1320T>A (p.Leu440=) c.1260T>A (p.Leu420=) n.3607-271A>T n.4043-271A>T c.1143T>A (p.Leu381=) c.1161T>A (p.Leu387=) c.918T>A (p.Leu306=) c.951T>A (p.Leu317=) c.969T>A (p.Leu323=) | |
2 | g.127428535T>C | CA428871732 | PROC | c.975T>C (p.Leu325=) c.299T>C c.1077T>C (p.Leu359=) c.1158T>C (p.Leu386=) c.1140T>C (p.Leu380=) c.1038T>C (p.Leu346=) n.1332-271A>G c.1218T>C (p.Leu406=) c.1320T>C (p.Leu440=) c.1260T>C (p.Leu420=) n.3607-271A>G n.4043-271A>G c.1143T>C (p.Leu381=) c.1161T>C (p.Leu387=) c.918T>C (p.Leu306=) c.951T>C (p.Leu317=) c.969T>C (p.Leu323=) | |
2 | g.127428535T>G | CA428871733 | PROC | c.975T>G (p.Leu325=) c.299T>G c.1077T>G (p.Leu359=) c.1158T>G (p.Leu386=) c.1140T>G (p.Leu380=) c.1038T>G (p.Leu346=) n.1332-271A>C c.1218T>G (p.Leu406=) c.1320T>G (p.Leu440=) c.1260T>G (p.Leu420=) n.3607-271A>C n.4043-271A>C c.1143T>G (p.Leu381=) c.1161T>G (p.Leu387=) c.918T>G (p.Leu306=) c.951T>G (p.Leu317=) c.969T>G (p.Leu323=) | |
2 | g.127428536G>A | CA348405186 | PROC | c.976G>A (p.Ala326Thr) c.300G>A c.1078G>A (p.Ala360Thr) c.1159G>A (p.Ala387Thr) c.1141G>A (p.Ala381Thr) c.1039G>A (p.Ala347Thr) n.1332-272C>T c.1219G>A (p.Ala407Thr) c.1321G>A (p.Ala441Thr) c.1261G>A (p.Ala421Thr) n.3607-272C>T n.4043-272C>T c.1144G>A (p.Ala382Thr) c.1162G>A (p.Ala388Thr) c.919G>A (p.Ala307Thr) c.952G>A (p.Ala318Thr) c.970G>A (p.Ala324Thr) | |
2 | g.127428536G>C | CA348405188 | PROC | c.976G>C (p.Ala326Pro) c.300G>C c.1078G>C (p.Ala360Pro) c.1159G>C (p.Ala387Pro) c.1141G>C (p.Ala381Pro) c.1039G>C (p.Ala347Pro) n.1332-272C>G c.1219G>C (p.Ala407Pro) c.1321G>C (p.Ala441Pro) c.1261G>C (p.Ala421Pro) n.3607-272C>G n.4043-272C>G c.1144G>C (p.Ala382Pro) c.1162G>C (p.Ala388Pro) c.919G>C (p.Ala307Pro) c.952G>C (p.Ala318Pro) c.970G>C (p.Ala324Pro) | |
2 | g.127428536G>T | CA348405187 | PROC | c.976G>T (p.Ala326Ser) c.300G>T c.1078G>T (p.Ala360Ser) c.1159G>T (p.Ala387Ser) c.1141G>T (p.Ala381Ser) c.1039G>T (p.Ala347Ser) n.1332-272C>A c.1219G>T (p.Ala407Ser) c.1321G>T (p.Ala441Ser) c.1261G>T (p.Ala421Ser) n.3607-272C>A n.4043-272C>A c.1144G>T (p.Ala382Ser) c.1162G>T (p.Ala388Ser) c.919G>T (p.Ala307Ser) c.952G>T (p.Ala318Ser) c.970G>T (p.Ala324Ser) | |
2 | g.127428537C>A | CA348405191 | PROC | c.977C>A (p.Ala326Glu) c.301C>A c.1079C>A (p.Ala360Glu) c.1160C>A (p.Ala387Glu) c.1142C>A (p.Ala381Glu) c.1040C>A (p.Ala347Glu) n.1332-273G>T c.1220C>A (p.Ala407Glu) c.1322C>A (p.Ala441Glu) c.1262C>A (p.Ala421Glu) n.3607-273G>T n.4043-273G>T c.1145C>A (p.Ala382Glu) c.1163C>A (p.Ala388Glu) c.920C>A (p.Ala307Glu) c.953C>A (p.Ala318Glu) c.971C>A (p.Ala324Glu) | |
2 | g.127428537C>G | CA348405195 | PROC | c.977C>G (p.Ala326Gly) c.301C>G c.1079C>G (p.Ala360Gly) c.1160C>G (p.Ala387Gly) c.1142C>G (p.Ala381Gly) c.1040C>G (p.Ala347Gly) n.1332-273G>C c.1220C>G (p.Ala407Gly) c.1322C>G (p.Ala441Gly) c.1262C>G (p.Ala421Gly) n.3607-273G>C n.4043-273G>C c.1145C>G (p.Ala382Gly) c.1163C>G (p.Ala388Gly) c.920C>G (p.Ala307Gly) c.953C>G (p.Ala318Gly) c.971C>G (p.Ala324Gly) | |
2 | g.127428537C>T | CA348405192 | PROC | c.977C>T (p.Ala326Val) c.301C>T c.1079C>T (p.Ala360Val) c.1160C>T (p.Ala387Val) c.1142C>T (p.Ala381Val) c.1040C>T (p.Ala347Val) n.1332-273G>A c.1220C>T (p.Ala407Val) c.1322C>T (p.Ala441Val) c.1262C>T (p.Ala421Val) n.3607-273G>A n.4043-273G>A c.1145C>T (p.Ala382Val) c.1163C>T (p.Ala388Val) c.920C>T (p.Ala307Val) c.953C>T (p.Ala318Val) c.971C>T (p.Ala324Val) | gnomAD v4 |
2 | g.127428538A>C | CA428871745 | PROC | c.978A>C (p.Ala326=) c.302A>C c.1080A>C (p.Ala360=) c.1161A>C (p.Ala387=) c.1143A>C (p.Ala381=) c.1041A>C (p.Ala347=) n.1332-274T>G c.1221A>C (p.Ala407=) c.1323A>C (p.Ala441=) c.1263A>C (p.Ala421=) n.3607-274T>G n.4043-274T>G c.1146A>C (p.Ala382=) c.1164A>C (p.Ala388=) c.921A>C (p.Ala307=) c.954A>C (p.Ala318=) c.972A>C (p.Ala324=) | |
2 | g.127428538A>G | CA428871747 | PROC | c.978A>G (p.Ala326=) c.302A>G c.1080A>G (p.Ala360=) c.1161A>G (p.Ala387=) c.1143A>G (p.Ala381=) c.1041A>G (p.Ala347=) n.1332-274T>C c.1221A>G (p.Ala407=) c.1323A>G (p.Ala441=) c.1263A>G (p.Ala421=) n.3607-274T>C n.4043-274T>C c.1146A>G (p.Ala382=) c.1164A>G (p.Ala388=) c.921A>G (p.Ala307=) c.954A>G (p.Ala318=) c.972A>G (p.Ala324=) | |
2 | g.127428538A>T | CA428871749 | PROC | c.978A>T (p.Ala326=) c.302A>T c.1080A>T (p.Ala360=) c.1161A>T (p.Ala387=) c.1143A>T (p.Ala381=) c.1041A>T (p.Ala347=) n.1332-274T>A c.1221A>T (p.Ala407=) c.1323A>T (p.Ala441=) c.1263A>T (p.Ala421=) n.3607-274T>A n.4043-274T>A c.1146A>T (p.Ala382=) c.1164A>T (p.Ala388=) c.921A>T (p.Ala307=) c.954A>T (p.Ala318=) c.972A>T (p.Ala324=) | |
2 | g.127428539G>A | CA348405199 | PROC | c.979G>A (p.Glu327Lys) c.303G>A c.1081G>A (p.Glu361Lys) c.1162G>A (p.Glu388Lys) c.1144G>A (p.Glu382Lys) c.1042G>A (p.Glu348Lys) n.1332-275C>T c.1222G>A (p.Glu408Lys) c.1324G>A (p.Glu442Lys) c.1264G>A (p.Glu422Lys) n.3607-275C>T n.4043-275C>T c.1147G>A (p.Glu383Lys) c.1165G>A (p.Glu389Lys) c.922G>A (p.Glu308Lys) c.955G>A (p.Glu319Lys) c.973G>A (p.Glu325Lys) | dbSNP gnomAD v2 COSMIC |
2 | g.127428539G>C | CA348405201 | PROC | c.979G>C (p.Glu327Gln) c.303G>C c.1081G>C (p.Glu361Gln) c.1162G>C (p.Glu388Gln) c.1144G>C (p.Glu382Gln) c.1042G>C (p.Glu348Gln) n.1332-275C>G c.1222G>C (p.Glu408Gln) c.1324G>C (p.Glu442Gln) c.1264G>C (p.Glu422Gln) n.3607-275C>G n.4043-275C>G c.1147G>C (p.Glu383Gln) c.1165G>C (p.Glu389Gln) c.922G>C (p.Glu308Gln) c.955G>C (p.Glu319Gln) c.973G>C (p.Glu325Gln) | gnomAD v4 |
2 | g.127428539G= | CA1286884516 | PROC | c.979G= (p.Glu327=) c.303G= c.1081G= (p.Glu361=) c.1162G= (p.Glu388=) c.1144G= (p.Glu382=) c.1042G= (p.Glu348=) n.1332-275C= c.1222G= (p.Glu408=) c.1324G= (p.Glu442=) c.1264G= (p.Glu422=) n.3607-275C= n.4043-275C= c.1147G= (p.Glu383=) c.1165G= (p.Glu389=) c.922G= (p.Glu308=) c.955G= (p.Glu319=) c.973G= (p.Glu325=) | |
2 | g.127428539G>T | CA348405207 | PROC | c.979G>T (p.Glu327Ter) c.303G>T c.1081G>T (p.Glu361Ter) c.1162G>T (p.Glu388Ter) c.1144G>T (p.Glu382Ter) c.1042G>T (p.Glu348Ter) n.1332-275C>A c.1222G>T (p.Glu408Ter) c.1324G>T (p.Glu442Ter) c.1264G>T (p.Glu422Ter) n.3607-275C>A n.4043-275C>A c.1147G>T (p.Glu383Ter) c.1165G>T (p.Glu389Ter) c.922G>T (p.Glu308Ter) c.955G>T (p.Glu319Ter) c.973G>T (p.Glu325Ter) | |
2 | g.127428540A= | CA1286884517 | PROC | c.980A= (p.Glu327=) c.304A= c.1082A= (p.Glu361=) c.1163A= (p.Glu388=) c.1145A= (p.Glu382=) c.1043A= (p.Glu348=) n.1332-276T= c.1223A= (p.Glu408=) c.1325A= (p.Glu442=) c.1265A= (p.Glu422=) n.3607-276T= n.4043-276T= c.1148A= (p.Glu383=) c.1166A= (p.Glu389=) c.923A= (p.Glu308=) c.956A= (p.Glu319=) c.974A= (p.Glu325=) | |
2 | g.127428540A>C | CA348405209 | PROC | c.980A>C (p.Glu327Ala) c.304A>C c.1082A>C (p.Glu361Ala) c.1163A>C (p.Glu388Ala) c.1145A>C (p.Glu382Ala) c.1043A>C (p.Glu348Ala) n.1332-276T>G c.1223A>C (p.Glu408Ala) c.1325A>C (p.Glu442Ala) c.1265A>C (p.Glu422Ala) n.3607-276T>G n.4043-276T>G c.1148A>C (p.Glu383Ala) c.1166A>C (p.Glu389Ala) c.923A>C (p.Glu308Ala) c.956A>C (p.Glu319Ala) c.974A>C (p.Glu325Ala) | |
2 | g.127428540A>G | CA348405212 | PROC | c.980A>G (p.Glu327Gly) c.304A>G c.1082A>G (p.Glu361Gly) c.1163A>G (p.Glu388Gly) c.1145A>G (p.Glu382Gly) c.1043A>G (p.Glu348Gly) n.1332-276T>C c.1223A>G (p.Glu408Gly) c.1325A>G (p.Glu442Gly) c.1265A>G (p.Glu422Gly) n.3607-276T>C n.4043-276T>C c.1148A>G (p.Glu383Gly) c.1166A>G (p.Glu389Gly) c.923A>G (p.Glu308Gly) c.956A>G (p.Glu319Gly) c.974A>G (p.Glu325Gly) | |
2 | g.127428540A>T | CA55350850 | PROC | c.980A>T (p.Glu327Val) c.304A>T c.1082A>T (p.Glu361Val) c.1163A>T (p.Glu388Val) c.1145A>T (p.Glu382Val) c.1043A>T (p.Glu348Val) n.1332-276T>A c.1223A>T (p.Glu408Val) c.1325A>T (p.Glu442Val) c.1265A>T (p.Glu422Val) n.3607-276T>A n.4043-276T>A c.1148A>T (p.Glu383Val) c.1166A>T (p.Glu389Val) c.923A>T (p.Glu308Val) c.956A>T (p.Glu319Val) c.974A>T (p.Glu325Val) | ClinVar dbSNP gnomAD v4 |
2 | g.127428541G>A | CA428871762 | PROC | c.981G>A (p.Glu327=) c.305G>A c.1083G>A (p.Glu361=) c.1164G>A (p.Glu388=) c.1146G>A (p.Glu382=) c.1044G>A (p.Glu348=) n.1332-277C>T c.1224G>A (p.Glu408=) c.1326G>A (p.Glu442=) c.1266G>A (p.Glu422=) n.3607-277C>T n.4043-277C>T c.1149G>A (p.Glu383=) c.1167G>A (p.Glu389=) c.924G>A (p.Glu308=) c.957G>A (p.Glu319=) c.975G>A (p.Glu325=) | gnomAD v4 |
2 | g.127428541G>C | CA348405214 | PROC | c.981G>C (p.Glu327Asp) c.305G>C c.1083G>C (p.Glu361Asp) c.1164G>C (p.Glu388Asp) c.1146G>C (p.Glu382Asp) c.1044G>C (p.Glu348Asp) n.1332-277C>G c.1224G>C (p.Glu408Asp) c.1326G>C (p.Glu442Asp) c.1266G>C (p.Glu422Asp) n.3607-277C>G n.4043-277C>G c.1149G>C (p.Glu383Asp) c.1167G>C (p.Glu389Asp) c.924G>C (p.Glu308Asp) c.957G>C (p.Glu319Asp) c.975G>C (p.Glu325Asp) | |
2 | g.127428541G>T | CA348405215 | PROC | c.981G>T (p.Glu327Asp) c.305G>T c.1083G>T (p.Glu361Asp) c.1164G>T (p.Glu388Asp) c.1146G>T (p.Glu382Asp) c.1044G>T (p.Glu348Asp) n.1332-277C>A c.1224G>T (p.Glu408Asp) c.1326G>T (p.Glu442Asp) c.1266G>T (p.Glu422Asp) n.3607-277C>A n.4043-277C>A c.1149G>T (p.Glu383Asp) c.1167G>T (p.Glu389Asp) c.924G>T (p.Glu308Asp) c.957G>T (p.Glu319Asp) c.975G>T (p.Glu325Asp) | |
2 | g.127428542C>A | CA348405216 | PROC | c.982C>A (p.Arg328Ser) c.306C>A c.1084C>A (p.Arg362Ser) c.1165C>A (p.Arg389Ser) c.1147C>A (p.Arg383Ser) c.1045C>A (p.Arg349Ser) n.1332-278G>T c.1225C>A (p.Arg409Ser) c.1327C>A (p.Arg443Ser) c.1267C>A (p.Arg423Ser) n.3607-278G>T n.4043-278G>T c.1150C>A (p.Arg384Ser) c.1168C>A (p.Arg390Ser) c.925C>A (p.Arg309Ser) c.958C>A (p.Arg320Ser) c.976C>A (p.Arg326Ser) | |
2 | g.127428542C= | CA1286884518 | PROC | c.982C= (p.Arg328=) c.306C= c.1084C= (p.Arg362=) c.1165C= (p.Arg389=) c.1147C= (p.Arg383=) c.1045C= (p.Arg349=) n.1332-278G= c.1225C= (p.Arg409=) c.1327C= (p.Arg443=) c.1267C= (p.Arg423=) n.3607-278G= n.4043-278G= c.1150C= (p.Arg384=) c.1168C= (p.Arg390=) c.925C= (p.Arg309=) c.958C= (p.Arg320=) c.976C= (p.Arg326=) | |
2 | g.127428542C>G | CA348405217 | PROC | c.982C>G (p.Arg328Gly) c.306C>G c.1084C>G (p.Arg362Gly) c.1165C>G (p.Arg389Gly) c.1147C>G (p.Arg383Gly) c.1045C>G (p.Arg349Gly) n.1332-278G>C c.1225C>G (p.Arg409Gly) c.1327C>G (p.Arg443Gly) c.1267C>G (p.Arg423Gly) n.3607-278G>C n.4043-278G>C c.1150C>G (p.Arg384Gly) c.1168C>G (p.Arg390Gly) c.925C>G (p.Arg309Gly) c.958C>G (p.Arg320Gly) c.976C>G (p.Arg326Gly) | |
2 | g.127428542C>T | CA55350874 | PROC | c.982C>T (p.Arg328Cys) c.306C>T c.1084C>T (p.Arg362Cys) c.1165C>T (p.Arg389Cys) c.1147C>T (p.Arg383Cys) c.1045C>T (p.Arg349Cys) n.1332-278G>A c.1225C>T (p.Arg409Cys) c.1327C>T (p.Arg443Cys) c.1267C>T (p.Arg423Cys) n.3607-278G>A n.4043-278G>A c.1150C>T (p.Arg384Cys) c.1168C>T (p.Arg390Cys) c.925C>T (p.Arg309Cys) c.958C>T (p.Arg320Cys) c.976C>T (p.Arg326Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.127428543G>A | CA348405226 | PROC | c.983G>A (p.Arg328His) c.307G>A c.1085G>A (p.Arg362His) c.1166G>A (p.Arg389His) c.1148G>A (p.Arg383His) c.1046G>A (p.Arg349His) n.1332-279C>T c.1226G>A (p.Arg409His) c.1328G>A (p.Arg443His) c.1268G>A (p.Arg423His) n.3607-279C>T n.4043-279C>T c.1151G>A (p.Arg384His) c.1169G>A (p.Arg390His) c.926G>A (p.Arg309His) c.959G>A (p.Arg320His) c.977G>A (p.Arg326His) | ClinVar dbSNP gnomAD v4 |
2 | g.127428543G>C | CA348405223 | PROC | c.983G>C (p.Arg328Pro) c.307G>C c.1085G>C (p.Arg362Pro) c.1166G>C (p.Arg389Pro) c.1148G>C (p.Arg383Pro) c.1046G>C (p.Arg349Pro) n.1332-279C>G c.1226G>C (p.Arg409Pro) c.1328G>C (p.Arg443Pro) c.1268G>C (p.Arg423Pro) n.3607-279C>G n.4043-279C>G c.1151G>C (p.Arg384Pro) c.1169G>C (p.Arg390Pro) c.926G>C (p.Arg309Pro) c.959G>C (p.Arg320Pro) c.977G>C (p.Arg326Pro) | |
2 | g.127428543G= | CA1286884519 | PROC | c.983G= (p.Arg328=) c.307G= c.1085G= (p.Arg362=) c.1166G= (p.Arg389=) c.1148G= (p.Arg383=) c.1046G= (p.Arg349=) n.1332-279C= c.1226G= (p.Arg409=) c.1328G= (p.Arg443=) c.1268G= (p.Arg423=) n.3607-279C= n.4043-279C= c.1151G= (p.Arg384=) c.1169G= (p.Arg390=) c.926G= (p.Arg309=) c.959G= (p.Arg320=) c.977G= (p.Arg326=) | |
2 | g.127428543G>T | CA348405221 | PROC | c.983G>T (p.Arg328Leu) c.307G>T c.1085G>T (p.Arg362Leu) c.1166G>T (p.Arg389Leu) c.1148G>T (p.Arg383Leu) c.1046G>T (p.Arg349Leu) n.1332-279C>A c.1226G>T (p.Arg409Leu) c.1328G>T (p.Arg443Leu) c.1268G>T (p.Arg423Leu) n.3607-279C>A n.4043-279C>A c.1151G>T (p.Arg384Leu) c.1169G>T (p.Arg390Leu) c.926G>T (p.Arg309Leu) c.959G>T (p.Arg320Leu) c.977G>T (p.Arg326Leu) | |
2 | g.127428544del | CA2660997779 | PROC | c.984del (p.Glu329SerfsTer11) c.308del c.1086del (p.Glu363SerfsTer11) c.1167del (p.Glu390SerfsTer11) c.1149del (p.Glu384SerfsTer11) c.1047del (p.Glu350SerfsTer11) n.1332-280del c.1227del (p.Glu410SerfsTer11) c.1329del (p.Glu444SerfsTer11) c.1269del (p.Glu424SerfsTer11) n.3607-280del n.4043-280del c.1152del (p.Glu385SerfsTer11) c.1170del (p.Glu391SerfsTer11) c.927del (p.Glu310SerfsTer11) c.960del (p.Glu321SerfsTer11) c.978del (p.Glu327SerfsTer11) | gnomAD v4 |
2 | g.127428544C>A | CA428871773 | PROC | c.984C>A (p.Arg328=) c.308C>A c.1086C>A (p.Arg362=) c.1167C>A (p.Arg389=) c.1149C>A (p.Arg383=) c.1047C>A (p.Arg349=) n.1332-280G>T c.1227C>A (p.Arg409=) c.1329C>A (p.Arg443=) c.1269C>A (p.Arg423=) n.3607-280G>T n.4043-280G>T c.1152C>A (p.Arg384=) c.1170C>A (p.Arg390=) c.927C>A (p.Arg309=) c.960C>A (p.Arg320=) c.978C>A (p.Arg326=) | gnomAD v4 |
2 | g.127428544C= | CA1286884520 | PROC | c.984C= (p.Arg328=) c.308C= c.1086C= (p.Arg362=) c.1167C= (p.Arg389=) c.1149C= (p.Arg383=) c.1047C= (p.Arg349=) n.1332-280G= c.1227C= (p.Arg409=) c.1329C= (p.Arg443=) c.1269C= (p.Arg423=) n.3607-280G= n.4043-280G= c.1152C= (p.Arg384=) c.1170C= (p.Arg390=) c.927C= (p.Arg309=) c.960C= (p.Arg320=) c.978C= (p.Arg326=) | |
2 | g.127428544C>G | CA428871774 | PROC | c.984C>G (p.Arg328=) c.308C>G c.1086C>G (p.Arg362=) c.1167C>G (p.Arg389=) c.1149C>G (p.Arg383=) c.1047C>G (p.Arg349=) n.1332-280G>C c.1227C>G (p.Arg409=) c.1329C>G (p.Arg443=) c.1269C>G (p.Arg423=) n.3607-280G>C n.4043-280G>C c.1152C>G (p.Arg384=) c.1170C>G (p.Arg390=) c.927C>G (p.Arg309=) c.960C>G (p.Arg320=) c.978C>G (p.Arg326=) | |
2 | g.127428544C>T | CA1859498 | PROC | c.984C>T (p.Arg328=) c.308C>T c.1086C>T (p.Arg362=) c.1167C>T (p.Arg389=) c.1149C>T (p.Arg383=) c.1047C>T (p.Arg349=) n.1332-280G>A c.1227C>T (p.Arg409=) c.1329C>T (p.Arg443=) c.1269C>T (p.Arg423=) n.3607-280G>A n.4043-280G>A c.1152C>T (p.Arg384=) c.1170C>T (p.Arg390=) c.927C>T (p.Arg309=) c.960C>T (p.Arg320=) c.978C>T (p.Arg326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428545G>A | CA1859499 | PROC | c.985G>A (p.Glu329Lys) c.309G>A c.1087G>A (p.Glu363Lys) c.1168G>A (p.Glu390Lys) c.1150G>A (p.Glu384Lys) c.1048G>A (p.Glu350Lys) n.1332-281C>T c.1228G>A (p.Glu410Lys) c.1330G>A (p.Glu444Lys) c.1270G>A (p.Glu424Lys) n.3607-281C>T n.4043-281C>T c.1153G>A (p.Glu385Lys) c.1171G>A (p.Glu391Lys) c.928G>A (p.Glu310Lys) c.961G>A (p.Glu321Lys) c.979G>A (p.Glu327Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428545G>C | CA348405234 | PROC | c.985G>C (p.Glu329Gln) c.309G>C c.1087G>C (p.Glu363Gln) c.1168G>C (p.Glu390Gln) c.1150G>C (p.Glu384Gln) c.1048G>C (p.Glu350Gln) n.1332-281C>G c.1228G>C (p.Glu410Gln) c.1330G>C (p.Glu444Gln) c.1270G>C (p.Glu424Gln) n.3607-281C>G n.4043-281C>G c.1153G>C (p.Glu385Gln) c.1171G>C (p.Glu391Gln) c.928G>C (p.Glu310Gln) c.961G>C (p.Glu321Gln) c.979G>C (p.Glu327Gln) | |
2 | g.127428545G= | CA1286884521 | PROC | c.985G= (p.Glu329=) c.309G= c.1087G= (p.Glu363=) c.1168G= (p.Glu390=) c.1150G= (p.Glu384=) c.1048G= (p.Glu350=) n.1332-281C= c.1228G= (p.Glu410=) c.1330G= (p.Glu444=) c.1270G= (p.Glu424=) n.3607-281C= n.4043-281C= c.1153G= (p.Glu385=) c.1171G= (p.Glu391=) c.928G= (p.Glu310=) c.961G= (p.Glu321=) c.979G= (p.Glu327=) | |
2 | g.127428545G>T | CA348405236 | PROC | c.985G>T (p.Glu329Ter) c.309G>T c.1087G>T (p.Glu363Ter) c.1168G>T (p.Glu390Ter) c.1150G>T (p.Glu384Ter) c.1048G>T (p.Glu350Ter) n.1332-281C>A c.1228G>T (p.Glu410Ter) c.1330G>T (p.Glu444Ter) c.1270G>T (p.Glu424Ter) n.3607-281C>A n.4043-281C>A c.1153G>T (p.Glu385Ter) c.1171G>T (p.Glu391Ter) c.928G>T (p.Glu310Ter) c.961G>T (p.Glu321Ter) c.979G>T (p.Glu327Ter) | |
2 | g.127428546A>C | CA348405240 | PROC | c.986A>C (p.Glu329Ala) c.310A>C c.1088A>C (p.Glu363Ala) c.1169A>C (p.Glu390Ala) c.1151A>C (p.Glu384Ala) c.1049A>C (p.Glu350Ala) n.1332-282T>G c.1229A>C (p.Glu410Ala) c.1331A>C (p.Glu444Ala) c.1271A>C (p.Glu424Ala) n.3607-282T>G n.4043-282T>G c.1154A>C (p.Glu385Ala) c.1172A>C (p.Glu391Ala) c.929A>C (p.Glu310Ala) c.962A>C (p.Glu321Ala) c.980A>C (p.Glu327Ala) | |
2 | g.127428546A>G | CA348405244 | PROC | c.986A>G (p.Glu329Gly) c.310A>G c.1088A>G (p.Glu363Gly) c.1169A>G (p.Glu390Gly) c.1151A>G (p.Glu384Gly) c.1049A>G (p.Glu350Gly) n.1332-282T>C c.1229A>G (p.Glu410Gly) c.1331A>G (p.Glu444Gly) c.1271A>G (p.Glu424Gly) n.3607-282T>C n.4043-282T>C c.1154A>G (p.Glu385Gly) c.1172A>G (p.Glu391Gly) c.929A>G (p.Glu310Gly) c.962A>G (p.Glu321Gly) c.980A>G (p.Glu327Gly) | |
2 | g.127428546A>T | CA348405247 | PROC | c.986A>T (p.Glu329Val) c.310A>T c.1088A>T (p.Glu363Val) c.1169A>T (p.Glu390Val) c.1151A>T (p.Glu384Val) c.1049A>T (p.Glu350Val) n.1332-282T>A c.1229A>T (p.Glu410Val) c.1331A>T (p.Glu444Val) c.1271A>T (p.Glu424Val) n.3607-282T>A n.4043-282T>A c.1154A>T (p.Glu385Val) c.1172A>T (p.Glu391Val) c.929A>T (p.Glu310Val) c.962A>T (p.Glu321Val) c.980A>T (p.Glu327Val) | |
2 | g.127428547G>A | CA428871790 | PROC | c.987G>A (p.Glu329=) c.311G>A c.1089G>A (p.Glu363=) c.1170G>A (p.Glu390=) c.1152G>A (p.Glu384=) c.1050G>A (p.Glu350=) n.1332-283C>T c.1230G>A (p.Glu410=) c.1332G>A (p.Glu444=) c.1272G>A (p.Glu424=) n.3607-283C>T n.4043-283C>T c.1155G>A (p.Glu385=) c.1173G>A (p.Glu391=) c.930G>A (p.Glu310=) c.963G>A (p.Glu321=) c.981G>A (p.Glu327=) | |
2 | g.127428547G>C | CA348405254 | PROC | c.987G>C (p.Glu329Asp) c.311G>C c.1089G>C (p.Glu363Asp) c.1170G>C (p.Glu390Asp) c.1152G>C (p.Glu384Asp) c.1050G>C (p.Glu350Asp) n.1332-283C>G c.1230G>C (p.Glu410Asp) c.1332G>C (p.Glu444Asp) c.1272G>C (p.Glu424Asp) n.3607-283C>G n.4043-283C>G c.1155G>C (p.Glu385Asp) c.1173G>C (p.Glu391Asp) c.930G>C (p.Glu310Asp) c.963G>C (p.Glu321Asp) c.981G>C (p.Glu327Asp) | |
2 | g.127428547G>T | CA348405256 | PROC | c.987G>T (p.Glu329Asp) c.311G>T c.1089G>T (p.Glu363Asp) c.1170G>T (p.Glu390Asp) c.1152G>T (p.Glu384Asp) c.1050G>T (p.Glu350Asp) n.1332-283C>A c.1230G>T (p.Glu410Asp) c.1332G>T (p.Glu444Asp) c.1272G>T (p.Glu424Asp) n.3607-283C>A n.4043-283C>A c.1155G>T (p.Glu385Asp) c.1173G>T (p.Glu391Asp) c.930G>T (p.Glu310Asp) c.963G>T (p.Glu321Asp) c.981G>T (p.Glu327Asp) | |
2 | g.127428548C>A | CA348405265 | PROC | c.988C>A (p.Leu330Ile) c.312C>A c.1090C>A (p.Leu364Ile) c.1171C>A (p.Leu391Ile) c.1153C>A (p.Leu385Ile) c.1051C>A (p.Leu351Ile) n.1332-284G>T c.1231C>A (p.Leu411Ile) c.1333C>A (p.Leu445Ile) c.1273C>A (p.Leu425Ile) n.3607-284G>T n.4043-284G>T c.1156C>A (p.Leu386Ile) c.1174C>A (p.Leu392Ile) c.931C>A (p.Leu311Ile) c.964C>A (p.Leu322Ile) c.982C>A (p.Leu328Ile) | |
2 | g.127428548C>G | CA348405267 | PROC | c.988C>G (p.Leu330Val) c.312C>G c.1090C>G (p.Leu364Val) c.1171C>G (p.Leu391Val) c.1153C>G (p.Leu385Val) c.1051C>G (p.Leu351Val) n.1332-284G>C c.1231C>G (p.Leu411Val) c.1333C>G (p.Leu445Val) c.1273C>G (p.Leu425Val) n.3607-284G>C n.4043-284G>C c.1156C>G (p.Leu386Val) c.1174C>G (p.Leu392Val) c.931C>G (p.Leu311Val) c.964C>G (p.Leu322Val) c.982C>G (p.Leu328Val) | |
2 | g.127428548C>T | CA348405268 | PROC | c.988C>T (p.Leu330Phe) c.312C>T c.1090C>T (p.Leu364Phe) c.1171C>T (p.Leu391Phe) c.1153C>T (p.Leu385Phe) c.1051C>T (p.Leu351Phe) n.1332-284G>A c.1231C>T (p.Leu411Phe) c.1333C>T (p.Leu445Phe) c.1273C>T (p.Leu425Phe) n.3607-284G>A n.4043-284G>A c.1156C>T (p.Leu386Phe) c.1174C>T (p.Leu392Phe) c.931C>T (p.Leu311Phe) c.964C>T (p.Leu322Phe) c.982C>T (p.Leu328Phe) | gnomAD v4 |
2 | g.127428549T>A | CA348405273 | PROC | c.989T>A (p.Leu330His) c.313T>A c.1091T>A (p.Leu364His) c.1172T>A (p.Leu391His) c.1154T>A (p.Leu385His) c.1052T>A (p.Leu351His) n.1332-285A>T c.1232T>A (p.Leu411His) c.1334T>A (p.Leu445His) c.1274T>A (p.Leu425His) n.3607-285A>T n.4043-285A>T c.1157T>A (p.Leu386His) c.1175T>A (p.Leu392His) c.932T>A (p.Leu311His) c.965T>A (p.Leu322His) c.983T>A (p.Leu328His) | |
2 | g.127428549T>C | CA348405270 | PROC | c.989T>C (p.Leu330Pro) c.313T>C c.1091T>C (p.Leu364Pro) c.1172T>C (p.Leu391Pro) c.1154T>C (p.Leu385Pro) c.1052T>C (p.Leu351Pro) n.1332-285A>G c.1232T>C (p.Leu411Pro) c.1334T>C (p.Leu445Pro) c.1274T>C (p.Leu425Pro) n.3607-285A>G n.4043-285A>G c.1157T>C (p.Leu386Pro) c.1175T>C (p.Leu392Pro) c.932T>C (p.Leu311Pro) c.965T>C (p.Leu322Pro) c.983T>C (p.Leu328Pro) | ClinVar |
2 | g.127428549T>G | CA348405269 | PROC | c.989T>G (p.Leu330Arg) c.313T>G c.1091T>G (p.Leu364Arg) c.1172T>G (p.Leu391Arg) c.1154T>G (p.Leu385Arg) c.1052T>G (p.Leu351Arg) n.1332-285A>C c.1232T>G (p.Leu411Arg) c.1334T>G (p.Leu445Arg) c.1274T>G (p.Leu425Arg) n.3607-285A>C n.4043-285A>C c.1157T>G (p.Leu386Arg) c.1175T>G (p.Leu392Arg) c.932T>G (p.Leu311Arg) c.965T>G (p.Leu322Arg) c.983T>G (p.Leu328Arg) | |
2 | g.127428550C>A | CA428871800 | PROC | c.990C>A (p.Leu330=) c.314C>A c.1092C>A (p.Leu364=) c.1173C>A (p.Leu391=) c.1155C>A (p.Leu385=) c.1053C>A (p.Leu351=) n.1332-286G>T c.1233C>A (p.Leu411=) c.1335C>A (p.Leu445=) c.1275C>A (p.Leu425=) n.3607-286G>T n.4043-286G>T c.1158C>A (p.Leu386=) c.1176C>A (p.Leu392=) c.933C>A (p.Leu311=) c.966C>A (p.Leu322=) c.984C>A (p.Leu328=) | |
2 | g.127428550C>G | CA428871802 | PROC | c.990C>G (p.Leu330=) c.314C>G c.1092C>G (p.Leu364=) c.1173C>G (p.Leu391=) c.1155C>G (p.Leu385=) c.1053C>G (p.Leu351=) n.1332-286G>C c.1233C>G (p.Leu411=) c.1335C>G (p.Leu445=) c.1275C>G (p.Leu425=) n.3607-286G>C n.4043-286G>C c.1158C>G (p.Leu386=) c.1176C>G (p.Leu392=) c.933C>G (p.Leu311=) c.966C>G (p.Leu322=) c.984C>G (p.Leu328=) | |
2 | g.127428550C>T | CA428871804 | PROC | c.990C>T (p.Leu330=) c.314C>T c.1092C>T (p.Leu364=) c.1173C>T (p.Leu391=) c.1155C>T (p.Leu385=) c.1053C>T (p.Leu351=) n.1332-286G>A c.1233C>T (p.Leu411=) c.1335C>T (p.Leu445=) c.1275C>T (p.Leu425=) n.3607-286G>A n.4043-286G>A c.1158C>T (p.Leu386=) c.1176C>T (p.Leu392=) c.933C>T (p.Leu311=) c.966C>T (p.Leu322=) c.984C>T (p.Leu328=) | COSMIC |
2 | g.127428551A= | CA1286884522 | PROC | c.991A= (p.Asn331=) c.315A= c.1093A= (p.Asn365=) c.1174A= (p.Asn392=) c.1156A= (p.Asn386=) c.1054A= (p.Asn352=) n.1332-287T= c.1234A= (p.Asn412=) c.1336A= (p.Asn446=) c.1276A= (p.Asn426=) n.3607-287T= n.4043-287T= c.1159A= (p.Asn387=) c.1177A= (p.Asn393=) c.934A= (p.Asn312=) c.967A= (p.Asn323=) c.985A= (p.Asn329=) | |
2 | g.127428551A>C | CA348405278 | PROC | c.991A>C (p.Asn331His) c.315A>C c.1093A>C (p.Asn365His) c.1174A>C (p.Asn392His) c.1156A>C (p.Asn386His) c.1054A>C (p.Asn352His) n.1332-287T>G c.1234A>C (p.Asn412His) c.1336A>C (p.Asn446His) c.1276A>C (p.Asn426His) n.3607-287T>G n.4043-287T>G c.1159A>C (p.Asn387His) c.1177A>C (p.Asn393His) c.934A>C (p.Asn312His) c.967A>C (p.Asn323His) c.985A>C (p.Asn329His) | dbSNP gnomAD v4 |
2 | g.127428551A>G | CA348405276 | PROC | c.991A>G (p.Asn331Asp) c.315A>G c.1093A>G (p.Asn365Asp) c.1174A>G (p.Asn392Asp) c.1156A>G (p.Asn386Asp) c.1054A>G (p.Asn352Asp) n.1332-287T>C c.1234A>G (p.Asn412Asp) c.1336A>G (p.Asn446Asp) c.1276A>G (p.Asn426Asp) n.3607-287T>C n.4043-287T>C c.1159A>G (p.Asn387Asp) c.1177A>G (p.Asn393Asp) c.934A>G (p.Asn312Asp) c.967A>G (p.Asn323Asp) c.985A>G (p.Asn329Asp) | |
2 | g.127428551A>T | CA348405277 | PROC | c.991A>T (p.Asn331Tyr) c.315A>T c.1093A>T (p.Asn365Tyr) c.1174A>T (p.Asn392Tyr) c.1156A>T (p.Asn386Tyr) c.1054A>T (p.Asn352Tyr) n.1332-287T>A c.1234A>T (p.Asn412Tyr) c.1336A>T (p.Asn446Tyr) c.1276A>T (p.Asn426Tyr) n.3607-287T>A n.4043-287T>A c.1159A>T (p.Asn387Tyr) c.1177A>T (p.Asn393Tyr) c.934A>T (p.Asn312Tyr) c.967A>T (p.Asn323Tyr) c.985A>T (p.Asn329Tyr) | dbSNP |
2 | g.127428552A= | CA1286884523 | PROC | c.992A= (p.Asn331=) c.316A= c.1094A= (p.Asn365=) c.1175A= (p.Asn392=) c.1157A= (p.Asn386=) c.1055A= (p.Asn352=) n.1332-288T= c.1235A= (p.Asn412=) c.1337A= (p.Asn446=) c.1277A= (p.Asn426=) n.3607-288T= n.4043-288T= c.1160A= (p.Asn387=) c.1178A= (p.Asn393=) c.935A= (p.Asn312=) c.968A= (p.Asn323=) c.986A= (p.Asn329=) | |
2 | g.127428552A>C | CA348405279 | PROC | c.992A>C (p.Asn331Thr) c.316A>C c.1094A>C (p.Asn365Thr) c.1175A>C (p.Asn392Thr) c.1157A>C (p.Asn386Thr) c.1055A>C (p.Asn352Thr) n.1332-288T>G c.1235A>C (p.Asn412Thr) c.1337A>C (p.Asn446Thr) c.1277A>C (p.Asn426Thr) n.3607-288T>G n.4043-288T>G c.1160A>C (p.Asn387Thr) c.1178A>C (p.Asn393Thr) c.935A>C (p.Asn312Thr) c.968A>C (p.Asn323Thr) c.986A>C (p.Asn329Thr) | |
2 | g.127428552A>G | CA1859500 | PROC | c.992A>G (p.Asn331Ser) c.316A>G c.1094A>G (p.Asn365Ser) c.1175A>G (p.Asn392Ser) c.1157A>G (p.Asn386Ser) c.1055A>G (p.Asn352Ser) n.1332-288T>C c.1235A>G (p.Asn412Ser) c.1337A>G (p.Asn446Ser) c.1277A>G (p.Asn426Ser) n.3607-288T>C n.4043-288T>C c.1160A>G (p.Asn387Ser) c.1178A>G (p.Asn393Ser) c.935A>G (p.Asn312Ser) c.968A>G (p.Asn323Ser) c.986A>G (p.Asn329Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428552A>T | CA348405282 | PROC | c.992A>T (p.Asn331Ile) c.316A>T c.1094A>T (p.Asn365Ile) c.1175A>T (p.Asn392Ile) c.1157A>T (p.Asn386Ile) c.1055A>T (p.Asn352Ile) n.1332-288T>A c.1235A>T (p.Asn412Ile) c.1337A>T (p.Asn446Ile) c.1277A>T (p.Asn426Ile) n.3607-288T>A n.4043-288T>A c.1160A>T (p.Asn387Ile) c.1178A>T (p.Asn393Ile) c.935A>T (p.Asn312Ile) c.968A>T (p.Asn323Ile) c.986A>T (p.Asn329Ile) | |
2 | g.127428553T>A | CA348405283 | PROC | c.993T>A (p.Asn331Lys) c.317T>A c.1095T>A (p.Asn365Lys) c.1176T>A (p.Asn392Lys) c.1158T>A (p.Asn386Lys) c.1056T>A (p.Asn352Lys) n.1332-289A>T c.1236T>A (p.Asn412Lys) c.1338T>A (p.Asn446Lys) c.1278T>A (p.Asn426Lys) n.3607-289A>T n.4043-289A>T c.1161T>A (p.Asn387Lys) c.1179T>A (p.Asn393Lys) c.936T>A (p.Asn312Lys) c.969T>A (p.Asn323Lys) c.987T>A (p.Asn329Lys) | |
2 | g.127428553T>C | CA428871821 | PROC | c.993T>C (p.Asn331=) c.317T>C c.1095T>C (p.Asn365=) c.1176T>C (p.Asn392=) c.1158T>C (p.Asn386=) c.1056T>C (p.Asn352=) n.1332-289A>G c.1236T>C (p.Asn412=) c.1338T>C (p.Asn446=) c.1278T>C (p.Asn426=) n.3607-289A>G n.4043-289A>G c.1161T>C (p.Asn387=) c.1179T>C (p.Asn393=) c.936T>C (p.Asn312=) c.969T>C (p.Asn323=) c.987T>C (p.Asn329=) | |
2 | g.127428553T>G | CA348405286 | PROC | c.993T>G (p.Asn331Lys) c.317T>G c.1095T>G (p.Asn365Lys) c.1176T>G (p.Asn392Lys) c.1158T>G (p.Asn386Lys) c.1056T>G (p.Asn352Lys) n.1332-289A>C c.1236T>G (p.Asn412Lys) c.1338T>G (p.Asn446Lys) c.1278T>G (p.Asn426Lys) n.3607-289A>C n.4043-289A>C c.1161T>G (p.Asn387Lys) c.1179T>G (p.Asn393Lys) c.936T>G (p.Asn312Lys) c.969T>G (p.Asn323Lys) c.987T>G (p.Asn329Lys) | |
2 | g.127428554C>A | CA348405290 | PROC | c.994C>A (p.Gln332Lys) c.318C>A c.1096C>A (p.Gln366Lys) c.1177C>A (p.Gln393Lys) c.1159C>A (p.Gln387Lys) c.1057C>A (p.Gln353Lys) n.1332-290G>T c.1237C>A (p.Gln413Lys) c.1339C>A (p.Gln447Lys) c.1279C>A (p.Gln427Lys) n.3607-290G>T n.4043-290G>T c.1162C>A (p.Gln388Lys) c.1180C>A (p.Gln394Lys) c.937C>A (p.Gln313Lys) c.970C>A (p.Gln324Lys) c.988C>A (p.Gln330Lys) | |
2 | g.127428554C= | CA1286884524 | PROC | c.994C= (p.Gln332=) c.318C= c.1096C= (p.Gln366=) c.1177C= (p.Gln393=) c.1159C= (p.Gln387=) c.1057C= (p.Gln353=) n.1332-290G= c.1237C= (p.Gln413=) c.1339C= (p.Gln447=) c.1279C= (p.Gln427=) n.3607-290G= n.4043-290G= c.1162C= (p.Gln388=) c.1180C= (p.Gln394=) c.937C= (p.Gln313=) c.970C= (p.Gln324=) c.988C= (p.Gln330=) | |
2 | g.127428554C>G | CA1859501 | PROC | c.994C>G (p.Gln332Glu) c.318C>G c.1096C>G (p.Gln366Glu) c.1177C>G (p.Gln393Glu) c.1159C>G (p.Gln387Glu) c.1057C>G (p.Gln353Glu) n.1332-290G>C c.1237C>G (p.Gln413Glu) c.1339C>G (p.Gln447Glu) c.1279C>G (p.Gln427Glu) n.3607-290G>C n.4043-290G>C c.1162C>G (p.Gln388Glu) c.1180C>G (p.Gln394Glu) c.937C>G (p.Gln313Glu) c.970C>G (p.Gln324Glu) c.988C>G (p.Gln330Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428554C>T | CA348405294 | PROC | c.994C>T (p.Gln332Ter) c.318C>T c.1096C>T (p.Gln366Ter) c.1177C>T (p.Gln393Ter) c.1159C>T (p.Gln387Ter) c.1057C>T (p.Gln353Ter) n.1332-290G>A c.1237C>T (p.Gln413Ter) c.1339C>T (p.Gln447Ter) c.1279C>T (p.Gln427Ter) n.3607-290G>A n.4043-290G>A c.1162C>T (p.Gln388Ter) c.1180C>T (p.Gln394Ter) c.937C>T (p.Gln313Ter) c.970C>T (p.Gln324Ter) c.988C>T (p.Gln330Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428555A>C | CA348405297 | PROC | c.995A>C (p.Gln332Pro) c.319A>C c.1097A>C (p.Gln366Pro) c.1178A>C (p.Gln393Pro) c.1160A>C (p.Gln387Pro) c.1058A>C (p.Gln353Pro) n.1332-291T>G c.1238A>C (p.Gln413Pro) c.1340A>C (p.Gln447Pro) c.1280A>C (p.Gln427Pro) n.3607-291T>G n.4043-291T>G c.1163A>C (p.Gln388Pro) c.1181A>C (p.Gln394Pro) c.938A>C (p.Gln313Pro) c.971A>C (p.Gln324Pro) c.989A>C (p.Gln330Pro) | |
2 | g.127428555A>G | CA348405299 | PROC | c.995A>G (p.Gln332Arg) c.319A>G c.1097A>G (p.Gln366Arg) c.1178A>G (p.Gln393Arg) c.1160A>G (p.Gln387Arg) c.1058A>G (p.Gln353Arg) n.1332-291T>C c.1238A>G (p.Gln413Arg) c.1340A>G (p.Gln447Arg) c.1280A>G (p.Gln427Arg) n.3607-291T>C n.4043-291T>C c.1163A>G (p.Gln388Arg) c.1181A>G (p.Gln394Arg) c.938A>G (p.Gln313Arg) c.971A>G (p.Gln324Arg) c.989A>G (p.Gln330Arg) | |
2 | g.127428555A>T | CA348405301 | PROC | c.995A>T (p.Gln332Leu) c.319A>T c.1097A>T (p.Gln366Leu) c.1178A>T (p.Gln393Leu) c.1160A>T (p.Gln387Leu) c.1058A>T (p.Gln353Leu) n.1332-291T>A c.1238A>T (p.Gln413Leu) c.1340A>T (p.Gln447Leu) c.1280A>T (p.Gln427Leu) n.3607-291T>A n.4043-291T>A c.1163A>T (p.Gln388Leu) c.1181A>T (p.Gln394Leu) c.938A>T (p.Gln313Leu) c.971A>T (p.Gln324Leu) c.989A>T (p.Gln330Leu) | |
2 | g.127428556G>A | CA428871833 | PROC | c.996G>A (p.Gln332=) c.320G>A c.1098G>A (p.Gln366=) c.1179G>A (p.Gln393=) c.1161G>A (p.Gln387=) c.1059G>A (p.Gln353=) n.1332-292C>T c.1239G>A (p.Gln413=) c.1341G>A (p.Gln447=) c.1281G>A (p.Gln427=) n.3607-292C>T n.4043-292C>T c.1164G>A (p.Gln388=) c.1182G>A (p.Gln394=) c.939G>A (p.Gln313=) c.972G>A (p.Gln324=) c.990G>A (p.Gln330=) | gnomAD v4 |
2 | g.127428556G>C | CA348405307 | PROC | c.996G>C (p.Gln332His) c.320G>C c.1098G>C (p.Gln366His) c.1179G>C (p.Gln393His) c.1161G>C (p.Gln387His) c.1059G>C (p.Gln353His) n.1332-292C>G c.1239G>C (p.Gln413His) c.1341G>C (p.Gln447His) c.1281G>C (p.Gln427His) n.3607-292C>G n.4043-292C>G c.1164G>C (p.Gln388His) c.1182G>C (p.Gln394His) c.939G>C (p.Gln313His) c.972G>C (p.Gln324His) c.990G>C (p.Gln330His) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428556G= | CA1286884525 | PROC | c.996G= (p.Gln332=) c.320G= c.1098G= (p.Gln366=) c.1179G= (p.Gln393=) c.1161G= (p.Gln387=) c.1059G= (p.Gln353=) n.1332-292C= c.1239G= (p.Gln413=) c.1341G= (p.Gln447=) c.1281G= (p.Gln427=) n.3607-292C= n.4043-292C= c.1164G= (p.Gln388=) c.1182G= (p.Gln394=) c.939G= (p.Gln313=) c.972G= (p.Gln324=) c.990G= (p.Gln330=) | |
2 | g.127428556G>T | CA348405305 | PROC | c.996G>T (p.Gln332His) c.320G>T c.1098G>T (p.Gln366His) c.1179G>T (p.Gln393His) c.1161G>T (p.Gln387His) c.1059G>T (p.Gln353His) n.1332-292C>A c.1239G>T (p.Gln413His) c.1341G>T (p.Gln447His) c.1281G>T (p.Gln427His) n.3607-292C>A n.4043-292C>A c.1164G>T (p.Gln388His) c.1182G>T (p.Gln394His) c.939G>T (p.Gln313His) c.972G>T (p.Gln324His) c.990G>T (p.Gln330His) | |
2 | g.127428557G>A | CA348405312 | PROC | c.997G>A (p.Ala333Thr) c.321G>A c.1099G>A (p.Ala367Thr) c.1180G>A (p.Ala394Thr) c.1162G>A (p.Ala388Thr) c.1060G>A (p.Ala354Thr) n.1332-293C>T c.1240G>A (p.Ala414Thr) c.1342G>A (p.Ala448Thr) c.1282G>A (p.Ala428Thr) n.3607-293C>T n.4043-293C>T c.1165G>A (p.Ala389Thr) c.1183G>A (p.Ala395Thr) c.940G>A (p.Ala314Thr) c.973G>A (p.Ala325Thr) c.991G>A (p.Ala331Thr) | ClinVar |
2 | g.127428557G>C | CA348405314 | PROC | c.997G>C (p.Ala333Pro) c.321G>C c.1099G>C (p.Ala367Pro) c.1180G>C (p.Ala394Pro) c.1162G>C (p.Ala388Pro) c.1060G>C (p.Ala354Pro) n.1332-293C>G c.1240G>C (p.Ala414Pro) c.1342G>C (p.Ala448Pro) c.1282G>C (p.Ala428Pro) n.3607-293C>G n.4043-293C>G c.1165G>C (p.Ala389Pro) c.1183G>C (p.Ala395Pro) c.940G>C (p.Ala314Pro) c.973G>C (p.Ala325Pro) c.991G>C (p.Ala331Pro) | |
2 | g.127428557G>T | CA348405316 | PROC | c.997G>T (p.Ala333Ser) c.321G>T c.1099G>T (p.Ala367Ser) c.1180G>T (p.Ala394Ser) c.1162G>T (p.Ala388Ser) c.1060G>T (p.Ala354Ser) n.1332-293C>A c.1240G>T (p.Ala414Ser) c.1342G>T (p.Ala448Ser) c.1282G>T (p.Ala428Ser) n.3607-293C>A n.4043-293C>A c.1165G>T (p.Ala389Ser) c.1183G>T (p.Ala395Ser) c.940G>T (p.Ala314Ser) c.973G>T (p.Ala325Ser) c.991G>T (p.Ala331Ser) | |
2 | g.127428558C>A | CA348405319 | PROC | c.998C>A (p.Ala333Asp) c.322C>A c.1100C>A (p.Ala367Asp) c.1181C>A (p.Ala394Asp) c.1163C>A (p.Ala388Asp) c.1061C>A (p.Ala354Asp) n.1332-294G>T c.1241C>A (p.Ala414Asp) c.1343C>A (p.Ala448Asp) c.1283C>A (p.Ala428Asp) n.3607-294G>T n.4043-294G>T c.1166C>A (p.Ala389Asp) c.1184C>A (p.Ala395Asp) c.941C>A (p.Ala314Asp) c.974C>A (p.Ala325Asp) c.992C>A (p.Ala331Asp) | |
2 | g.127428558C>G | CA348405322 | PROC | c.998C>G (p.Ala333Gly) c.322C>G c.1100C>G (p.Ala367Gly) c.1181C>G (p.Ala394Gly) c.1163C>G (p.Ala388Gly) c.1061C>G (p.Ala354Gly) n.1332-294G>C c.1241C>G (p.Ala414Gly) c.1343C>G (p.Ala448Gly) c.1283C>G (p.Ala428Gly) n.3607-294G>C n.4043-294G>C c.1166C>G (p.Ala389Gly) c.1184C>G (p.Ala395Gly) c.941C>G (p.Ala314Gly) c.974C>G (p.Ala325Gly) c.992C>G (p.Ala331Gly) | |
2 | g.127428558C>T | CA348405325 | PROC | c.998C>T (p.Ala333Val) c.322C>T c.1100C>T (p.Ala367Val) c.1181C>T (p.Ala394Val) c.1163C>T (p.Ala388Val) c.1061C>T (p.Ala354Val) n.1332-294G>A c.1241C>T (p.Ala414Val) c.1343C>T (p.Ala448Val) c.1283C>T (p.Ala428Val) n.3607-294G>A n.4043-294G>A c.1166C>T (p.Ala389Val) c.1184C>T (p.Ala395Val) c.941C>T (p.Ala314Val) c.974C>T (p.Ala325Val) c.992C>T (p.Ala331Val) | gnomAD v4 |
2 | g.127428559C>A | CA428871847 | PROC | c.999C>A (p.Ala333=) c.323C>A c.1101C>A (p.Ala367=) c.1182C>A (p.Ala394=) c.1164C>A (p.Ala388=) c.1062C>A (p.Ala354=) n.1332-295G>T c.1242C>A (p.Ala414=) c.1344C>A (p.Ala448=) c.1284C>A (p.Ala428=) n.3607-295G>T n.4043-295G>T c.1167C>A (p.Ala389=) c.1185C>A (p.Ala395=) c.942C>A (p.Ala314=) c.975C>A (p.Ala325=) c.993C>A (p.Ala331=) | |
2 | g.127428559C= | CA1286884526 | PROC | c.999C= (p.Ala333=) c.323C= c.1101C= (p.Ala367=) c.1182C= (p.Ala394=) c.1164C= (p.Ala388=) c.1062C= (p.Ala354=) n.1332-295G= c.1242C= (p.Ala414=) c.1344C= (p.Ala448=) c.1284C= (p.Ala428=) n.3607-295G= n.4043-295G= c.1167C= (p.Ala389=) c.1185C= (p.Ala395=) c.942C= (p.Ala314=) c.975C= (p.Ala325=) c.993C= (p.Ala331=) | |
2 | g.127428559C>G | CA428871849 | PROC | c.999C>G (p.Ala333=) c.323C>G c.1101C>G (p.Ala367=) c.1182C>G (p.Ala394=) c.1164C>G (p.Ala388=) c.1062C>G (p.Ala354=) n.1332-295G>C c.1242C>G (p.Ala414=) c.1344C>G (p.Ala448=) c.1284C>G (p.Ala428=) n.3607-295G>C n.4043-295G>C c.1167C>G (p.Ala389=) c.1185C>G (p.Ala395=) c.942C>G (p.Ala314=) c.975C>G (p.Ala325=) c.993C>G (p.Ala331=) | |
2 | g.127428559C>T | CA1859502 | PROC | c.999C>T (p.Ala333=) c.323C>T c.1101C>T (p.Ala367=) c.1182C>T (p.Ala394=) c.1164C>T (p.Ala388=) c.1062C>T (p.Ala354=) n.1332-295G>A c.1242C>T (p.Ala414=) c.1344C>T (p.Ala448=) c.1284C>T (p.Ala428=) n.3607-295G>A n.4043-295G>A c.1167C>T (p.Ala389=) c.1185C>T (p.Ala395=) c.942C>T (p.Ala314=) c.975C>T (p.Ala325=) c.993C>T (p.Ala331=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428560G>A | CA114406 | PROC | c.1000G>A (p.Gly334Ser) c.324G>A c.1102G>A (p.Gly368Ser) c.1183G>A (p.Gly395Ser) c.1165G>A (p.Gly389Ser) c.1063G>A (p.Gly355Ser) n.1332-296C>T c.1243G>A (p.Gly415Ser) c.1345G>A (p.Gly449Ser) c.1285G>A (p.Gly429Ser) n.3607-296C>T n.4043-296C>T c.1168G>A (p.Gly390Ser) c.1186G>A (p.Gly396Ser) c.943G>A (p.Gly315Ser) c.976G>A (p.Gly326Ser) c.994G>A (p.Gly332Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428560G>C | CA348405332 | PROC | c.1000G>C (p.Gly334Arg) c.324G>C c.1102G>C (p.Gly368Arg) c.1183G>C (p.Gly395Arg) c.1165G>C (p.Gly389Arg) c.1063G>C (p.Gly355Arg) n.1332-296C>G c.1243G>C (p.Gly415Arg) c.1345G>C (p.Gly449Arg) c.1285G>C (p.Gly429Arg) n.3607-296C>G n.4043-296C>G c.1168G>C (p.Gly390Arg) c.1186G>C (p.Gly396Arg) c.943G>C (p.Gly315Arg) c.976G>C (p.Gly326Arg) c.994G>C (p.Gly332Arg) | dbSNP |
2 | g.127428560G= | CA1286884527 | PROC | c.1000G= (p.Gly334=) c.324G= c.1102G= (p.Gly368=) c.1183G= (p.Gly395=) c.1165G= (p.Gly389=) c.1063G= (p.Gly355=) n.1332-296C= c.1243G= (p.Gly415=) c.1345G= (p.Gly449=) c.1285G= (p.Gly429=) n.3607-296C= n.4043-296C= c.1168G= (p.Gly390=) c.1186G= (p.Gly396=) c.943G= (p.Gly315=) c.976G= (p.Gly326=) c.994G= (p.Gly332=) | |
2 | g.127428560G>T | CA348405334 | PROC | c.1000G>T (p.Gly334Cys) c.324G>T c.1102G>T (p.Gly368Cys) c.1183G>T (p.Gly395Cys) c.1165G>T (p.Gly389Cys) c.1063G>T (p.Gly355Cys) n.1332-296C>A c.1243G>T (p.Gly415Cys) c.1345G>T (p.Gly449Cys) c.1285G>T (p.Gly429Cys) n.3607-296C>A n.4043-296C>A c.1168G>T (p.Gly390Cys) c.1186G>T (p.Gly396Cys) c.943G>T (p.Gly315Cys) c.976G>T (p.Gly326Cys) c.994G>T (p.Gly332Cys) | ClinVar dbSNP gnomAD v2 |
2 | g.127428561G>A | CA348405344 | PROC | c.1001G>A (p.Gly334Asp) c.325G>A c.1103G>A (p.Gly368Asp) c.1184G>A (p.Gly395Asp) c.1166G>A (p.Gly389Asp) c.1064G>A (p.Gly355Asp) n.1332-297C>T c.1244G>A (p.Gly415Asp) c.1346G>A (p.Gly449Asp) c.1286G>A (p.Gly429Asp) n.3607-297C>T n.4043-297C>T c.1169G>A (p.Gly390Asp) c.1187G>A (p.Gly396Asp) c.944G>A (p.Gly315Asp) c.977G>A (p.Gly326Asp) c.995G>A (p.Gly332Asp) | |
2 | g.127428561G>C | CA348405351 | PROC | c.1001G>C (p.Gly334Ala) c.325G>C c.1103G>C (p.Gly368Ala) c.1184G>C (p.Gly395Ala) c.1166G>C (p.Gly389Ala) c.1064G>C (p.Gly355Ala) n.1332-297C>G c.1244G>C (p.Gly415Ala) c.1346G>C (p.Gly449Ala) c.1286G>C (p.Gly429Ala) n.3607-297C>G n.4043-297C>G c.1169G>C (p.Gly390Ala) c.1187G>C (p.Gly396Ala) c.944G>C (p.Gly315Ala) c.977G>C (p.Gly326Ala) c.995G>C (p.Gly332Ala) | |
2 | g.127428561G>T | CA348405352 | PROC | c.1001G>T (p.Gly334Val) c.325G>T c.1103G>T (p.Gly368Val) c.1184G>T (p.Gly395Val) c.1166G>T (p.Gly389Val) c.1064G>T (p.Gly355Val) n.1332-297C>A c.1244G>T (p.Gly415Val) c.1346G>T (p.Gly449Val) c.1286G>T (p.Gly429Val) n.3607-297C>A n.4043-297C>A c.1169G>T (p.Gly390Val) c.1187G>T (p.Gly396Val) c.944G>T (p.Gly315Val) c.977G>T (p.Gly326Val) c.995G>T (p.Gly332Val) | |
2 | g.127428562C>A | CA428871861 | PROC | c.1002C>A (p.Gly334=) c.326C>A c.1104C>A (p.Gly368=) c.1185C>A (p.Gly395=) c.1167C>A (p.Gly389=) c.1065C>A (p.Gly355=) n.1332-298G>T c.1245C>A (p.Gly415=) c.1347C>A (p.Gly449=) c.1287C>A (p.Gly429=) n.3607-298G>T n.4043-298G>T c.1170C>A (p.Gly390=) c.1188C>A (p.Gly396=) c.945C>A (p.Gly315=) c.978C>A (p.Gly326=) c.996C>A (p.Gly332=) | gnomAD v4 COSMIC COSMIC |
2 | g.127428562C>G | CA428871863 | PROC | c.1002C>G (p.Gly334=) c.326C>G c.1104C>G (p.Gly368=) c.1185C>G (p.Gly395=) c.1167C>G (p.Gly389=) c.1065C>G (p.Gly355=) n.1332-298G>C c.1245C>G (p.Gly415=) c.1347C>G (p.Gly449=) c.1287C>G (p.Gly429=) n.3607-298G>C n.4043-298G>C c.1170C>G (p.Gly390=) c.1188C>G (p.Gly396=) c.945C>G (p.Gly315=) c.978C>G (p.Gly326=) c.996C>G (p.Gly332=) | gnomAD v4 |
2 | g.127428562C>T | CA428871866 | PROC | c.1002C>T (p.Gly334=) c.326C>T c.1104C>T (p.Gly368=) c.1185C>T (p.Gly395=) c.1167C>T (p.Gly389=) c.1065C>T (p.Gly355=) n.1332-298G>A c.1245C>T (p.Gly415=) c.1347C>T (p.Gly449=) c.1287C>T (p.Gly429=) n.3607-298G>A n.4043-298G>A c.1170C>T (p.Gly390=) c.1188C>T (p.Gly396=) c.945C>T (p.Gly315=) c.978C>T (p.Gly326=) c.996C>T (p.Gly332=) | |
2 | g.127428563C>A | CA348405359 | PROC | c.1003C>A (p.Gln335Lys) c.327C>A c.1105C>A (p.Gln369Lys) c.1186C>A (p.Gln396Lys) c.1168C>A (p.Gln390Lys) c.1066C>A (p.Gln356Lys) n.1332-299G>T c.1246C>A (p.Gln416Lys) c.1348C>A (p.Gln450Lys) c.1288C>A (p.Gln430Lys) n.3607-299G>T n.4043-299G>T c.1171C>A (p.Gln391Lys) c.1189C>A (p.Gln397Lys) c.946C>A (p.Gln316Lys) c.979C>A (p.Gln327Lys) c.997C>A (p.Gln333Lys) | |
2 | g.127428563C>G | CA348405361 | PROC | c.1003C>G (p.Gln335Glu) c.327C>G c.1105C>G (p.Gln369Glu) c.1186C>G (p.Gln396Glu) c.1168C>G (p.Gln390Glu) c.1066C>G (p.Gln356Glu) n.1332-299G>C c.1246C>G (p.Gln416Glu) c.1348C>G (p.Gln450Glu) c.1288C>G (p.Gln430Glu) n.3607-299G>C n.4043-299G>C c.1171C>G (p.Gln391Glu) c.1189C>G (p.Gln397Glu) c.946C>G (p.Gln316Glu) c.979C>G (p.Gln327Glu) c.997C>G (p.Gln333Glu) | |
2 | g.127428563C>T | CA348405356 | PROC | c.1003C>T (p.Gln335Ter) c.327C>T c.1105C>T (p.Gln369Ter) c.1186C>T (p.Gln396Ter) c.1168C>T (p.Gln390Ter) c.1066C>T (p.Gln356Ter) n.1332-299G>A c.1246C>T (p.Gln416Ter) c.1348C>T (p.Gln450Ter) c.1288C>T (p.Gln430Ter) n.3607-299G>A n.4043-299G>A c.1171C>T (p.Gln391Ter) c.1189C>T (p.Gln397Ter) c.946C>T (p.Gln316Ter) c.979C>T (p.Gln327Ter) c.997C>T (p.Gln333Ter) | |
2 | g.127428564A>C | CA348405365 | PROC | c.1004A>C (p.Gln335Pro) c.328A>C c.1106A>C (p.Gln369Pro) c.1187A>C (p.Gln396Pro) c.1169A>C (p.Gln390Pro) c.1067A>C (p.Gln356Pro) n.1332-300T>G c.1247A>C (p.Gln416Pro) c.1349A>C (p.Gln450Pro) c.1289A>C (p.Gln430Pro) n.3607-300T>G n.4043-300T>G c.1172A>C (p.Gln391Pro) c.1190A>C (p.Gln397Pro) c.947A>C (p.Gln316Pro) c.980A>C (p.Gln327Pro) c.998A>C (p.Gln333Pro) | |
2 | g.127428564A>G | CA348405368 | PROC | c.1004A>G (p.Gln335Arg) c.328A>G c.1106A>G (p.Gln369Arg) c.1187A>G (p.Gln396Arg) c.1169A>G (p.Gln390Arg) c.1067A>G (p.Gln356Arg) n.1332-300T>C c.1247A>G (p.Gln416Arg) c.1349A>G (p.Gln450Arg) c.1289A>G (p.Gln430Arg) n.3607-300T>C n.4043-300T>C c.1172A>G (p.Gln391Arg) c.1190A>G (p.Gln397Arg) c.947A>G (p.Gln316Arg) c.980A>G (p.Gln327Arg) c.998A>G (p.Gln333Arg) | |
2 | g.127428564A>T | CA348405369 | PROC | c.1004A>T (p.Gln335Leu) c.328A>T c.1106A>T (p.Gln369Leu) c.1187A>T (p.Gln396Leu) c.1169A>T (p.Gln390Leu) c.1067A>T (p.Gln356Leu) n.1332-300T>A c.1247A>T (p.Gln416Leu) c.1349A>T (p.Gln450Leu) c.1289A>T (p.Gln430Leu) n.3607-300T>A n.4043-300T>A c.1172A>T (p.Gln391Leu) c.1190A>T (p.Gln397Leu) c.947A>T (p.Gln316Leu) c.980A>T (p.Gln327Leu) c.998A>T (p.Gln333Leu) | |
2 | g.127428565G>A | CA428871877 | PROC | c.1005G>A (p.Gln335=) c.329G>A c.1107G>A (p.Gln369=) c.1188G>A (p.Gln396=) c.1170G>A (p.Gln390=) c.1068G>A (p.Gln356=) n.1332-301C>T c.1248G>A (p.Gln416=) c.1350G>A (p.Gln450=) c.1290G>A (p.Gln430=) n.3607-301C>T n.4043-301C>T c.1173G>A (p.Gln391=) c.1191G>A (p.Gln397=) c.948G>A (p.Gln316=) c.981G>A (p.Gln327=) c.999G>A (p.Gln333=) | ClinVar gnomAD v4 |
2 | g.127428565G>C | CA348405376 | PROC | c.1005G>C (p.Gln335His) c.329G>C c.1107G>C (p.Gln369His) c.1188G>C (p.Gln396His) c.1170G>C (p.Gln390His) c.1068G>C (p.Gln356His) n.1332-301C>G c.1248G>C (p.Gln416His) c.1350G>C (p.Gln450His) c.1290G>C (p.Gln430His) n.3607-301C>G n.4043-301C>G c.1173G>C (p.Gln391His) c.1191G>C (p.Gln397His) c.948G>C (p.Gln316His) c.981G>C (p.Gln327His) c.999G>C (p.Gln333His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428565G= | CA1286884528 | PROC | c.1005G= (p.Gln335=) c.329G= c.1107G= (p.Gln369=) c.1188G= (p.Gln396=) c.1170G= (p.Gln390=) c.1068G= (p.Gln356=) n.1332-301C= c.1248G= (p.Gln416=) c.1350G= (p.Gln450=) c.1290G= (p.Gln430=) n.3607-301C= n.4043-301C= c.1173G= (p.Gln391=) c.1191G= (p.Gln397=) c.948G= (p.Gln316=) c.981G= (p.Gln327=) c.999G= (p.Gln333=) | |
2 | g.127428565G>T | CA348405378 | PROC | c.1005G>T (p.Gln335His) c.329G>T c.1107G>T (p.Gln369His) c.1188G>T (p.Gln396His) c.1170G>T (p.Gln390His) c.1068G>T (p.Gln356His) n.1332-301C>A c.1248G>T (p.Gln416His) c.1350G>T (p.Gln450His) c.1290G>T (p.Gln430His) n.3607-301C>A n.4043-301C>A c.1173G>T (p.Gln391His) c.1191G>T (p.Gln397His) c.948G>T (p.Gln316His) c.981G>T (p.Gln327His) c.999G>T (p.Gln333His) | |
2 | g.127428566G>A | CA348405382 | PROC | c.1006G>A (p.Glu336Lys) c.330G>A c.1108G>A (p.Glu370Lys) c.1189G>A (p.Glu397Lys) c.1171G>A (p.Glu391Lys) c.1069G>A (p.Glu357Lys) n.1332-302C>T c.1249G>A (p.Glu417Lys) c.1351G>A (p.Glu451Lys) c.1291G>A (p.Glu431Lys) n.3607-302C>T n.4043-302C>T c.1174G>A (p.Glu392Lys) c.1192G>A (p.Glu398Lys) c.949G>A (p.Glu317Lys) c.982G>A (p.Glu328Lys) c.1000G>A (p.Glu334Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428566G>C | CA348405384 | PROC | c.1006G>C (p.Glu336Gln) c.330G>C c.1108G>C (p.Glu370Gln) c.1189G>C (p.Glu397Gln) c.1171G>C (p.Glu391Gln) c.1069G>C (p.Glu357Gln) n.1332-302C>G c.1249G>C (p.Glu417Gln) c.1351G>C (p.Glu451Gln) c.1291G>C (p.Glu431Gln) n.3607-302C>G n.4043-302C>G c.1174G>C (p.Glu392Gln) c.1192G>C (p.Glu398Gln) c.949G>C (p.Glu317Gln) c.982G>C (p.Glu328Gln) c.1000G>C (p.Glu334Gln) | |
2 | g.127428566G= | CA1286884529 | PROC | c.1006G= (p.Glu336=) c.330G= c.1108G= (p.Glu370=) c.1189G= (p.Glu397=) c.1171G= (p.Glu391=) c.1069G= (p.Glu357=) n.1332-302C= c.1249G= (p.Glu417=) c.1351G= (p.Glu451=) c.1291G= (p.Glu431=) n.3607-302C= n.4043-302C= c.1174G= (p.Glu392=) c.1192G= (p.Glu398=) c.949G= (p.Glu317=) c.982G= (p.Glu328=) c.1000G= (p.Glu334=) | |
2 | g.127428566G>T | CA348405386 | PROC | c.1006G>T (p.Glu336Ter) c.330G>T c.1108G>T (p.Glu370Ter) c.1189G>T (p.Glu397Ter) c.1171G>T (p.Glu391Ter) c.1069G>T (p.Glu357Ter) n.1332-302C>A c.1249G>T (p.Glu417Ter) c.1351G>T (p.Glu451Ter) c.1291G>T (p.Glu431Ter) n.3607-302C>A n.4043-302C>A c.1174G>T (p.Glu392Ter) c.1192G>T (p.Glu398Ter) c.949G>T (p.Glu317Ter) c.982G>T (p.Glu328Ter) c.1000G>T (p.Glu334Ter) | |
2 | g.127428567A>C | CA348405391 | PROC | c.1007A>C (p.Glu336Ala) c.331A>C c.1109A>C (p.Glu370Ala) c.1190A>C (p.Glu397Ala) c.1172A>C (p.Glu391Ala) c.1070A>C (p.Glu357Ala) n.1332-303T>G c.1250A>C (p.Glu417Ala) c.1352A>C (p.Glu451Ala) c.1292A>C (p.Glu431Ala) n.3607-303T>G n.4043-303T>G c.1175A>C (p.Glu392Ala) c.1193A>C (p.Glu398Ala) c.950A>C (p.Glu317Ala) c.983A>C (p.Glu328Ala) c.1001A>C (p.Glu334Ala) | |
2 | g.127428567A>G | CA348405393 | PROC | c.1007A>G (p.Glu336Gly) c.331A>G c.1109A>G (p.Glu370Gly) c.1190A>G (p.Glu397Gly) c.1172A>G (p.Glu391Gly) c.1070A>G (p.Glu357Gly) n.1332-303T>C c.1250A>G (p.Glu417Gly) c.1352A>G (p.Glu451Gly) c.1292A>G (p.Glu431Gly) n.3607-303T>C n.4043-303T>C c.1175A>G (p.Glu392Gly) c.1193A>G (p.Glu398Gly) c.950A>G (p.Glu317Gly) c.983A>G (p.Glu328Gly) c.1001A>G (p.Glu334Gly) | |
2 | g.127428567A>T | CA348405397 | PROC | c.1007A>T (p.Glu336Val) c.331A>T c.1109A>T (p.Glu370Val) c.1190A>T (p.Glu397Val) c.1172A>T (p.Glu391Val) c.1070A>T (p.Glu357Val) n.1332-303T>A c.1250A>T (p.Glu417Val) c.1352A>T (p.Glu451Val) c.1292A>T (p.Glu431Val) n.3607-303T>A n.4043-303T>A c.1175A>T (p.Glu392Val) c.1193A>T (p.Glu398Val) c.950A>T (p.Glu317Val) c.983A>T (p.Glu328Val) c.1001A>T (p.Glu334Val) | |
2 | g.127428568G>A | CA428871894 | PROC | c.1008G>A (p.Glu336=) c.332G>A c.1110G>A (p.Glu370=) c.1191G>A (p.Glu397=) c.1173G>A (p.Glu391=) c.1071G>A (p.Glu357=) n.1332-304C>T c.1251G>A (p.Glu417=) c.1353G>A (p.Glu451=) c.1293G>A (p.Glu431=) n.3607-304C>T n.4043-304C>T c.1176G>A (p.Glu392=) c.1194G>A (p.Glu398=) c.951G>A (p.Glu317=) c.984G>A (p.Glu328=) c.1002G>A (p.Glu334=) | |
2 | g.127428568G>C | CA348405398 | PROC | c.1008G>C (p.Glu336Asp) c.332G>C c.1110G>C (p.Glu370Asp) c.1191G>C (p.Glu397Asp) c.1173G>C (p.Glu391Asp) c.1071G>C (p.Glu357Asp) n.1332-304C>G c.1251G>C (p.Glu417Asp) c.1353G>C (p.Glu451Asp) c.1293G>C (p.Glu431Asp) n.3607-304C>G n.4043-304C>G c.1176G>C (p.Glu392Asp) c.1194G>C (p.Glu398Asp) c.951G>C (p.Glu317Asp) c.984G>C (p.Glu328Asp) c.1002G>C (p.Glu334Asp) | |
2 | g.127428568G>T | CA348405401 | PROC | c.1008G>T (p.Glu336Asp) c.332G>T c.1110G>T (p.Glu370Asp) c.1191G>T (p.Glu397Asp) c.1173G>T (p.Glu391Asp) c.1071G>T (p.Glu357Asp) n.1332-304C>A c.1251G>T (p.Glu417Asp) c.1353G>T (p.Glu451Asp) c.1293G>T (p.Glu431Asp) n.3607-304C>A n.4043-304C>A c.1176G>T (p.Glu392Asp) c.1194G>T (p.Glu398Asp) c.951G>T (p.Glu317Asp) c.984G>T (p.Glu328Asp) c.1002G>T (p.Glu334Asp) | |
2 | g.127428569A>C | CA348405408 | PROC | c.1009A>C (p.Thr337Pro) c.333A>C c.1111A>C (p.Thr371Pro) c.1192A>C (p.Thr398Pro) c.1174A>C (p.Thr392Pro) c.1072A>C (p.Thr358Pro) n.1332-305T>G c.1252A>C (p.Thr418Pro) c.1354A>C (p.Thr452Pro) c.1294A>C (p.Thr432Pro) n.3607-305T>G n.4043-305T>G c.1177A>C (p.Thr393Pro) c.1195A>C (p.Thr399Pro) c.952A>C (p.Thr318Pro) c.985A>C (p.Thr329Pro) c.1003A>C (p.Thr335Pro) | |
2 | g.127428569A>G | CA348405407 | PROC | c.1009A>G (p.Thr337Ala) c.333A>G c.1111A>G (p.Thr371Ala) c.1192A>G (p.Thr398Ala) c.1174A>G (p.Thr392Ala) c.1072A>G (p.Thr358Ala) n.1332-305T>C c.1252A>G (p.Thr418Ala) c.1354A>G (p.Thr452Ala) c.1294A>G (p.Thr432Ala) n.3607-305T>C n.4043-305T>C c.1177A>G (p.Thr393Ala) c.1195A>G (p.Thr399Ala) c.952A>G (p.Thr318Ala) c.985A>G (p.Thr329Ala) c.1003A>G (p.Thr335Ala) | |
2 | g.127428569A>T | CA348405405 | PROC | c.1009A>T (p.Thr337Ser) c.333A>T c.1111A>T (p.Thr371Ser) c.1192A>T (p.Thr398Ser) c.1174A>T (p.Thr392Ser) c.1072A>T (p.Thr358Ser) n.1332-305T>A c.1252A>T (p.Thr418Ser) c.1354A>T (p.Thr452Ser) c.1294A>T (p.Thr432Ser) n.3607-305T>A n.4043-305T>A c.1177A>T (p.Thr393Ser) c.1195A>T (p.Thr399Ser) c.952A>T (p.Thr318Ser) c.985A>T (p.Thr329Ser) c.1003A>T (p.Thr335Ser) | |
2 | g.127428570C>A | CA348405412 | PROC | c.1010C>A (p.Thr337Asn) c.334C>A c.1112C>A (p.Thr371Asn) c.1193C>A (p.Thr398Asn) c.1175C>A (p.Thr392Asn) c.1073C>A (p.Thr358Asn) n.1332-306G>T c.1253C>A (p.Thr418Asn) c.1355C>A (p.Thr452Asn) c.1295C>A (p.Thr432Asn) n.3607-306G>T n.4043-306G>T c.1178C>A (p.Thr393Asn) c.1196C>A (p.Thr399Asn) c.953C>A (p.Thr318Asn) c.986C>A (p.Thr329Asn) c.1004C>A (p.Thr335Asn) | |
2 | g.127428570C= | CA1286884530 | PROC | c.1010C= (p.Thr337=) c.334C= c.1112C= (p.Thr371=) c.1193C= (p.Thr398=) c.1175C= (p.Thr392=) c.1073C= (p.Thr358=) n.1332-306G= c.1253C= (p.Thr418=) c.1355C= (p.Thr452=) c.1295C= (p.Thr432=) n.3607-306G= n.4043-306G= c.1178C= (p.Thr393=) c.1196C= (p.Thr399=) c.953C= (p.Thr318=) c.986C= (p.Thr329=) c.1004C= (p.Thr335=) | |
2 | g.127428570C>G | CA348405415 | PROC | c.1010C>G (p.Thr337Ser) c.334C>G c.1112C>G (p.Thr371Ser) c.1193C>G (p.Thr398Ser) c.1175C>G (p.Thr392Ser) c.1073C>G (p.Thr358Ser) n.1332-306G>C c.1253C>G (p.Thr418Ser) c.1355C>G (p.Thr452Ser) c.1295C>G (p.Thr432Ser) n.3607-306G>C n.4043-306G>C c.1178C>G (p.Thr393Ser) c.1196C>G (p.Thr399Ser) c.953C>G (p.Thr318Ser) c.986C>G (p.Thr329Ser) c.1004C>G (p.Thr335Ser) | |
2 | g.127428570C>T | CA211727 | PROC | c.1010C>T (p.Thr337Ile) c.334C>T c.1112C>T (p.Thr371Ile) c.1193C>T (p.Thr398Ile) c.1175C>T (p.Thr392Ile) c.1073C>T (p.Thr358Ile) n.1332-306G>A c.1253C>T (p.Thr418Ile) c.1355C>T (p.Thr452Ile) c.1295C>T (p.Thr432Ile) n.3607-306G>A n.4043-306G>A c.1178C>T (p.Thr393Ile) c.1196C>T (p.Thr399Ile) c.953C>T (p.Thr318Ile) c.986C>T (p.Thr329Ile) c.1004C>T (p.Thr335Ile) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.127428571C>A | CA428871904 | PROC | c.1011C>A (p.Thr337=) c.335C>A c.1113C>A (p.Thr371=) c.1194C>A (p.Thr398=) c.1176C>A (p.Thr392=) c.1074C>A (p.Thr358=) n.1332-307G>T c.1254C>A (p.Thr418=) c.1356C>A (p.Thr452=) c.1296C>A (p.Thr432=) n.3607-307G>T n.4043-307G>T c.1179C>A (p.Thr393=) c.1197C>A (p.Thr399=) c.954C>A (p.Thr318=) c.987C>A (p.Thr329=) c.1005C>A (p.Thr335=) | |
2 | g.127428571C>G | CA428871906 | PROC | c.1011C>G (p.Thr337=) c.335C>G c.1113C>G (p.Thr371=) c.1194C>G (p.Thr398=) c.1176C>G (p.Thr392=) c.1074C>G (p.Thr358=) n.1332-307G>C c.1254C>G (p.Thr418=) c.1356C>G (p.Thr452=) c.1296C>G (p.Thr432=) n.3607-307G>C n.4043-307G>C c.1179C>G (p.Thr393=) c.1197C>G (p.Thr399=) c.954C>G (p.Thr318=) c.987C>G (p.Thr329=) c.1005C>G (p.Thr335=) | |
2 | g.127428571C>T | CA428871908 | PROC | c.1011C>T (p.Thr337=) c.335C>T c.1113C>T (p.Thr371=) c.1194C>T (p.Thr398=) c.1176C>T (p.Thr392=) c.1074C>T (p.Thr358=) n.1332-307G>A c.1254C>T (p.Thr418=) c.1356C>T (p.Thr452=) c.1296C>T (p.Thr432=) n.3607-307G>A n.4043-307G>A c.1179C>T (p.Thr393=) c.1197C>T (p.Thr399=) c.954C>T (p.Thr318=) c.987C>T (p.Thr329=) c.1005C>T (p.Thr335=) | |
2 | g.127428572C>A | CA348405421 | PROC | c.1012C>A (p.Leu338Ile) c.336C>A c.1114C>A (p.Leu372Ile) c.1195C>A (p.Leu399Ile) c.1177C>A (p.Leu393Ile) c.1075C>A (p.Leu359Ile) n.1332-308G>T c.1255C>A (p.Leu419Ile) c.1357C>A (p.Leu453Ile) c.1297C>A (p.Leu433Ile) n.3607-308G>T n.4043-308G>T c.1180C>A (p.Leu394Ile) c.1198C>A (p.Leu400Ile) c.955C>A (p.Leu319Ile) c.988C>A (p.Leu330Ile) c.1006C>A (p.Leu336Ile) | |
2 | g.127428572C>G | CA348405427 | PROC | c.1012C>G (p.Leu338Val) c.336C>G c.1114C>G (p.Leu372Val) c.1195C>G (p.Leu399Val) c.1177C>G (p.Leu393Val) c.1075C>G (p.Leu359Val) n.1332-308G>C c.1255C>G (p.Leu419Val) c.1357C>G (p.Leu453Val) c.1297C>G (p.Leu433Val) n.3607-308G>C n.4043-308G>C c.1180C>G (p.Leu394Val) c.1198C>G (p.Leu400Val) c.955C>G (p.Leu319Val) c.988C>G (p.Leu330Val) c.1006C>G (p.Leu336Val) | gnomAD v4 |
2 | g.127428572C>T | CA348405429 | PROC | c.1012C>T (p.Leu338Phe) c.336C>T c.1114C>T (p.Leu372Phe) c.1195C>T (p.Leu399Phe) c.1177C>T (p.Leu393Phe) c.1075C>T (p.Leu359Phe) n.1332-308G>A c.1255C>T (p.Leu419Phe) c.1357C>T (p.Leu453Phe) c.1297C>T (p.Leu433Phe) n.3607-308G>A n.4043-308G>A c.1180C>T (p.Leu394Phe) c.1198C>T (p.Leu400Phe) c.955C>T (p.Leu319Phe) c.988C>T (p.Leu330Phe) c.1006C>T (p.Leu336Phe) | |
2 | g.127428573T>A | CA348405432 | PROC | c.1013T>A (p.Leu338His) c.337T>A c.1115T>A (p.Leu372His) c.1196T>A (p.Leu399His) c.1178T>A (p.Leu393His) c.1076T>A (p.Leu359His) n.1332-309A>T c.1256T>A (p.Leu419His) c.1358T>A (p.Leu453His) c.1298T>A (p.Leu433His) n.3607-309A>T n.4043-309A>T c.1181T>A (p.Leu394His) c.1199T>A (p.Leu400His) c.956T>A (p.Leu319His) c.989T>A (p.Leu330His) c.1007T>A (p.Leu336His) | gnomAD v4 |
2 | g.127428573T>C | CA348405436 | PROC | c.1013T>C (p.Leu338Pro) c.337T>C c.1115T>C (p.Leu372Pro) c.1196T>C (p.Leu399Pro) c.1178T>C (p.Leu393Pro) c.1076T>C (p.Leu359Pro) n.1332-309A>G c.1256T>C (p.Leu419Pro) c.1358T>C (p.Leu453Pro) c.1298T>C (p.Leu433Pro) n.3607-309A>G n.4043-309A>G c.1181T>C (p.Leu394Pro) c.1199T>C (p.Leu400Pro) c.956T>C (p.Leu319Pro) c.989T>C (p.Leu330Pro) c.1007T>C (p.Leu336Pro) | |
2 | g.127428573T>G | CA348405438 | PROC | c.1013T>G (p.Leu338Arg) c.337T>G c.1115T>G (p.Leu372Arg) c.1196T>G (p.Leu399Arg) c.1178T>G (p.Leu393Arg) c.1076T>G (p.Leu359Arg) n.1332-309A>C c.1256T>G (p.Leu419Arg) c.1358T>G (p.Leu453Arg) c.1298T>G (p.Leu433Arg) n.3607-309A>C n.4043-309A>C c.1181T>G (p.Leu394Arg) c.1199T>G (p.Leu400Arg) c.956T>G (p.Leu319Arg) c.989T>G (p.Leu330Arg) c.1007T>G (p.Leu336Arg) | |
2 | g.127428574C>A | CA428871919 | PROC | c.1014C>A (p.Leu338=) c.338C>A c.1116C>A (p.Leu372=) c.1197C>A (p.Leu399=) c.1179C>A (p.Leu393=) c.1077C>A (p.Leu359=) n.1332-310G>T c.1257C>A (p.Leu419=) c.1359C>A (p.Leu453=) c.1299C>A (p.Leu433=) n.3607-310G>T n.4043-310G>T c.1182C>A (p.Leu394=) c.1200C>A (p.Leu400=) c.957C>A (p.Leu319=) c.990C>A (p.Leu330=) c.1008C>A (p.Leu336=) | |
2 | g.127428574C= | CA1286884531 | PROC | c.1014C= (p.Leu338=) c.338C= c.1116C= (p.Leu372=) c.1197C= (p.Leu399=) c.1179C= (p.Leu393=) c.1077C= (p.Leu359=) n.1332-310G= c.1257C= (p.Leu419=) c.1359C= (p.Leu453=) c.1299C= (p.Leu433=) n.3607-310G= n.4043-310G= c.1182C= (p.Leu394=) c.1200C= (p.Leu400=) c.957C= (p.Leu319=) c.990C= (p.Leu330=) c.1008C= (p.Leu336=) | |
2 | g.127428574C>G | CA428871923 | PROC | c.1014C>G (p.Leu338=) c.338C>G c.1116C>G (p.Leu372=) c.1197C>G (p.Leu399=) c.1179C>G (p.Leu393=) c.1077C>G (p.Leu359=) n.1332-310G>C c.1257C>G (p.Leu419=) c.1359C>G (p.Leu453=) c.1299C>G (p.Leu433=) n.3607-310G>C n.4043-310G>C c.1182C>G (p.Leu394=) c.1200C>G (p.Leu400=) c.957C>G (p.Leu319=) c.990C>G (p.Leu330=) c.1008C>G (p.Leu336=) | |
2 | g.127428574C>T | CA1859503 | PROC | c.1014C>T (p.Leu338=) c.338C>T c.1116C>T (p.Leu372=) c.1197C>T (p.Leu399=) c.1179C>T (p.Leu393=) c.1077C>T (p.Leu359=) n.1332-310G>A c.1257C>T (p.Leu419=) c.1359C>T (p.Leu453=) c.1299C>T (p.Leu433=) n.3607-310G>A n.4043-310G>A c.1182C>T (p.Leu394=) c.1200C>T (p.Leu400=) c.957C>T (p.Leu319=) c.990C>T (p.Leu330=) c.1008C>T (p.Leu336=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428575G>A | CA114425 | PROC | c.1015G>A (p.Val339Met) c.339G>A c.1117G>A (p.Val373Met) c.1198G>A (p.Val400Met) c.1180G>A (p.Val394Met) c.1078G>A (p.Val360Met) n.1332-311C>T c.1258G>A (p.Val420Met) c.1360G>A (p.Val454Met) c.1300G>A (p.Val434Met) n.3607-311C>T n.4043-311C>T c.1183G>A (p.Val395Met) c.1201G>A (p.Val401Met) c.958G>A (p.Val320Met) c.991G>A (p.Val331Met) c.1009G>A (p.Val337Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428575G>C | CA348405447 | PROC | c.1015G>C (p.Val339Leu) c.339G>C c.1117G>C (p.Val373Leu) c.1198G>C (p.Val400Leu) c.1180G>C (p.Val394Leu) c.1078G>C (p.Val360Leu) n.1332-311C>G c.1258G>C (p.Val420Leu) c.1360G>C (p.Val454Leu) c.1300G>C (p.Val434Leu) n.3607-311C>G n.4043-311C>G c.1183G>C (p.Val395Leu) c.1201G>C (p.Val401Leu) c.958G>C (p.Val320Leu) c.991G>C (p.Val331Leu) c.1009G>C (p.Val337Leu) | |
2 | g.127428575G= | CA1286884532 | PROC | c.1015G= (p.Val339=) c.339G= c.1117G= (p.Val373=) c.1198G= (p.Val400=) c.1180G= (p.Val394=) c.1078G= (p.Val360=) n.1332-311C= c.1258G= (p.Val420=) c.1360G= (p.Val454=) c.1300G= (p.Val434=) n.3607-311C= n.4043-311C= c.1183G= (p.Val395=) c.1201G= (p.Val401=) c.958G= (p.Val320=) c.991G= (p.Val331=) c.1009G= (p.Val337=) | |
2 | g.127428575G>T | CA348405449 | PROC | c.1015G>T (p.Val339Leu) c.339G>T c.1117G>T (p.Val373Leu) c.1198G>T (p.Val400Leu) c.1180G>T (p.Val394Leu) c.1078G>T (p.Val360Leu) n.1332-311C>A c.1258G>T (p.Val420Leu) c.1360G>T (p.Val454Leu) c.1300G>T (p.Val434Leu) n.3607-311C>A n.4043-311C>A c.1183G>T (p.Val395Leu) c.1201G>T (p.Val401Leu) c.958G>T (p.Val320Leu) c.991G>T (p.Val331Leu) c.1009G>T (p.Val337Leu) | |
2 | g.127428576T>A | CA348405460 | PROC | c.1016T>A (p.Val339Glu) c.340T>A c.1118T>A (p.Val373Glu) c.1199T>A (p.Val400Glu) c.1181T>A (p.Val394Glu) c.1079T>A (p.Val360Glu) n.1332-312A>T c.1259T>A (p.Val420Glu) c.1361T>A (p.Val454Glu) c.1301T>A (p.Val434Glu) n.3607-312A>T n.4043-312A>T c.1184T>A (p.Val395Glu) c.1202T>A (p.Val401Glu) c.959T>A (p.Val320Glu) c.992T>A (p.Val331Glu) c.1010T>A (p.Val337Glu) | |
2 | g.127428576T>C | CA348405462 | PROC | c.1016T>C (p.Val339Ala) c.340T>C c.1118T>C (p.Val373Ala) c.1199T>C (p.Val400Ala) c.1181T>C (p.Val394Ala) c.1079T>C (p.Val360Ala) n.1332-312A>G c.1259T>C (p.Val420Ala) c.1361T>C (p.Val454Ala) c.1301T>C (p.Val434Ala) n.3607-312A>G n.4043-312A>G c.1184T>C (p.Val395Ala) c.1202T>C (p.Val401Ala) c.959T>C (p.Val320Ala) c.992T>C (p.Val331Ala) c.1010T>C (p.Val337Ala) | |
2 | g.127428576T>G | CA348405458 | PROC | c.1016T>G (p.Val339Gly) c.340T>G c.1118T>G (p.Val373Gly) c.1199T>G (p.Val400Gly) c.1181T>G (p.Val394Gly) c.1079T>G (p.Val360Gly) n.1332-312A>C c.1259T>G (p.Val420Gly) c.1361T>G (p.Val454Gly) c.1301T>G (p.Val434Gly) n.3607-312A>C n.4043-312A>C c.1184T>G (p.Val395Gly) c.1202T>G (p.Val401Gly) c.959T>G (p.Val320Gly) c.992T>G (p.Val331Gly) c.1010T>G (p.Val337Gly) | |
2 | g.127428576dup | CA2660997780 | PROC | c.1016dup (p.Thr340AspfsTer?) c.340dup c.1118dup (p.Thr374AspfsTer?) c.1199dup (p.Thr401AspfsTer?) c.1181dup (p.Thr395AspfsTer?) c.1079dup (p.Thr361AspfsTer?) n.1332-312dup c.1259dup (p.Thr421AspfsTer?) c.1361dup (p.Thr455AspfsTer?) c.1301dup (p.Thr435AspfsTer?) n.3607-312dup n.4043-312dup c.1184dup (p.Thr396AspfsTer?) c.1202dup (p.Thr402AspfsTer?) c.959dup (p.Thr321AspfsTer?) c.992dup (p.Thr332AspfsTer?) c.1010dup (p.Thr338AspfsTer?) | gnomAD v4 |
2 | g.127428577G>A | CA55350934 | PROC | c.1017G>A (p.Val339=) c.341G>A c.1119G>A (p.Val373=) c.1200G>A (p.Val400=) c.1182G>A (p.Val394=) c.1080G>A (p.Val360=) n.1332-313C>T c.1260G>A (p.Val420=) c.1362G>A (p.Val454=) c.1302G>A (p.Val434=) n.3607-313C>T n.4043-313C>T c.1185G>A (p.Val395=) c.1203G>A (p.Val401=) c.960G>A (p.Val320=) c.993G>A (p.Val331=) c.1011G>A (p.Val337=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428577G>C | CA428871936 | PROC | c.1017G>C (p.Val339=) c.341G>C c.1119G>C (p.Val373=) c.1200G>C (p.Val400=) c.1182G>C (p.Val394=) c.1080G>C (p.Val360=) n.1332-313C>G c.1260G>C (p.Val420=) c.1362G>C (p.Val454=) c.1302G>C (p.Val434=) n.3607-313C>G n.4043-313C>G c.1185G>C (p.Val395=) c.1203G>C (p.Val401=) c.960G>C (p.Val320=) c.993G>C (p.Val331=) c.1011G>C (p.Val337=) | |
2 | g.127428577G= | CA1286884533 | PROC | c.1017G= (p.Val339=) c.341G= c.1119G= (p.Val373=) c.1200G= (p.Val400=) c.1182G= (p.Val394=) c.1080G= (p.Val360=) n.1332-313C= c.1260G= (p.Val420=) c.1362G= (p.Val454=) c.1302G= (p.Val434=) n.3607-313C= n.4043-313C= c.1185G= (p.Val395=) c.1203G= (p.Val401=) c.960G= (p.Val320=) c.993G= (p.Val331=) c.1011G= (p.Val337=) | |
2 | g.127428577G>T | CA428871938 | PROC | c.1017G>T (p.Val339=) c.341G>T c.1119G>T (p.Val373=) c.1200G>T (p.Val400=) c.1182G>T (p.Val394=) c.1080G>T (p.Val360=) n.1332-313C>A c.1260G>T (p.Val420=) c.1362G>T (p.Val454=) c.1302G>T (p.Val434=) n.3607-313C>A n.4043-313C>A c.1185G>T (p.Val395=) c.1203G>T (p.Val401=) c.960G>T (p.Val320=) c.993G>T (p.Val331=) c.1011G>T (p.Val337=) | |
2 | g.127428578A>C | CA348405465 | PROC | c.1018A>C (p.Thr340Pro) c.342A>C c.1120A>C (p.Thr374Pro) c.1201A>C (p.Thr401Pro) c.1183A>C (p.Thr395Pro) c.1081A>C (p.Thr361Pro) n.1332-314T>G c.1261A>C (p.Thr421Pro) c.1363A>C (p.Thr455Pro) c.1303A>C (p.Thr435Pro) n.3607-314T>G n.4043-314T>G c.1186A>C (p.Thr396Pro) c.1204A>C (p.Thr402Pro) c.961A>C (p.Thr321Pro) c.994A>C (p.Thr332Pro) c.1012A>C (p.Thr338Pro) | |
2 | g.127428578A>G | CA348405471 | PROC | c.1018A>G (p.Thr340Ala) c.342A>G c.1120A>G (p.Thr374Ala) c.1201A>G (p.Thr401Ala) c.1183A>G (p.Thr395Ala) c.1081A>G (p.Thr361Ala) n.1332-314T>C c.1261A>G (p.Thr421Ala) c.1363A>G (p.Thr455Ala) c.1303A>G (p.Thr435Ala) n.3607-314T>C n.4043-314T>C c.1186A>G (p.Thr396Ala) c.1204A>G (p.Thr402Ala) c.961A>G (p.Thr321Ala) c.994A>G (p.Thr332Ala) c.1012A>G (p.Thr338Ala) | |
2 | g.127428578A>T | CA348405472 | PROC | c.1018A>T (p.Thr340Ser) c.342A>T c.1120A>T (p.Thr374Ser) c.1201A>T (p.Thr401Ser) c.1183A>T (p.Thr395Ser) c.1081A>T (p.Thr361Ser) n.1332-314T>A c.1261A>T (p.Thr421Ser) c.1363A>T (p.Thr455Ser) c.1303A>T (p.Thr435Ser) n.3607-314T>A n.4043-314T>A c.1186A>T (p.Thr396Ser) c.1204A>T (p.Thr402Ser) c.961A>T (p.Thr321Ser) c.994A>T (p.Thr332Ser) c.1012A>T (p.Thr338Ser) | |
2 | g.127428579C>A | CA348405477 | PROC | c.1019C>A (p.Thr340Lys) c.343C>A c.1121C>A (p.Thr374Lys) c.1202C>A (p.Thr401Lys) c.1184C>A (p.Thr395Lys) c.1082C>A (p.Thr361Lys) n.1332-315G>T c.1262C>A (p.Thr421Lys) c.1364C>A (p.Thr455Lys) c.1304C>A (p.Thr435Lys) n.3607-315G>T n.4043-315G>T c.1187C>A (p.Thr396Lys) c.1205C>A (p.Thr402Lys) c.962C>A (p.Thr321Lys) c.995C>A (p.Thr332Lys) c.1013C>A (p.Thr338Lys) | ClinVar dbSNP |
2 | g.127428579C= | CA1286884534 | PROC | c.1019C= (p.Thr340=) c.343C= c.1121C= (p.Thr374=) c.1202C= (p.Thr401=) c.1184C= (p.Thr395=) c.1082C= (p.Thr361=) n.1332-315G= c.1262C= (p.Thr421=) c.1364C= (p.Thr455=) c.1304C= (p.Thr435=) n.3607-315G= n.4043-315G= c.1187C= (p.Thr396=) c.1205C= (p.Thr402=) c.962C= (p.Thr321=) c.995C= (p.Thr332=) c.1013C= (p.Thr338=) | |
2 | g.127428579C>G | CA348405480 | PROC | c.1019C>G (p.Thr340Arg) c.343C>G c.1121C>G (p.Thr374Arg) c.1202C>G (p.Thr401Arg) c.1184C>G (p.Thr395Arg) c.1082C>G (p.Thr361Arg) n.1332-315G>C c.1262C>G (p.Thr421Arg) c.1364C>G (p.Thr455Arg) c.1304C>G (p.Thr435Arg) n.3607-315G>C n.4043-315G>C c.1187C>G (p.Thr396Arg) c.1205C>G (p.Thr402Arg) c.962C>G (p.Thr321Arg) c.995C>G (p.Thr332Arg) c.1013C>G (p.Thr338Arg) | |
2 | g.127428579C>T | CA1859504 | PROC | c.1019C>T (p.Thr340Met) c.343C>T c.1121C>T (p.Thr374Met) c.1202C>T (p.Thr401Met) c.1184C>T (p.Thr395Met) c.1082C>T (p.Thr361Met) n.1332-315G>A c.1262C>T (p.Thr421Met) c.1364C>T (p.Thr455Met) c.1304C>T (p.Thr435Met) n.3607-315G>A n.4043-315G>A c.1187C>T (p.Thr396Met) c.1205C>T (p.Thr402Met) c.962C>T (p.Thr321Met) c.995C>T (p.Thr332Met) c.1013C>T (p.Thr338Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428580G>A | CA1859505 | PROC | c.1020G>A (p.Thr340=) c.344G>A c.1122G>A (p.Thr374=) c.1203G>A (p.Thr401=) c.1185G>A (p.Thr395=) c.1083G>A (p.Thr361=) n.1332-316C>T c.1263G>A (p.Thr421=) c.1365G>A (p.Thr455=) c.1305G>A (p.Thr435=) n.3607-316C>T n.4043-316C>T c.1188G>A (p.Thr396=) c.1206G>A (p.Thr402=) c.963G>A (p.Thr321=) c.996G>A (p.Thr332=) c.1014G>A (p.Thr338=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428580G>C | CA428871950 | PROC | c.1020G>C (p.Thr340=) c.344G>C c.1122G>C (p.Thr374=) c.1203G>C (p.Thr401=) c.1185G>C (p.Thr395=) c.1083G>C (p.Thr361=) n.1332-316C>G c.1263G>C (p.Thr421=) c.1365G>C (p.Thr455=) c.1305G>C (p.Thr435=) n.3607-316C>G n.4043-316C>G c.1188G>C (p.Thr396=) c.1206G>C (p.Thr402=) c.963G>C (p.Thr321=) c.996G>C (p.Thr332=) c.1014G>C (p.Thr338=) | |
2 | g.127428580G= | CA1286884535 | PROC | c.1020G= (p.Thr340=) c.344G= c.1122G= (p.Thr374=) c.1203G= (p.Thr401=) c.1185G= (p.Thr395=) c.1083G= (p.Thr361=) n.1332-316C= c.1263G= (p.Thr421=) c.1365G= (p.Thr455=) c.1305G= (p.Thr435=) n.3607-316C= n.4043-316C= c.1188G= (p.Thr396=) c.1206G= (p.Thr402=) c.963G= (p.Thr321=) c.996G= (p.Thr332=) c.1014G= (p.Thr338=) | |
2 | g.127428580G>T | CA428871952 | PROC | c.1020G>T (p.Thr340=) c.344G>T c.1122G>T (p.Thr374=) c.1203G>T (p.Thr401=) c.1185G>T (p.Thr395=) c.1083G>T (p.Thr361=) n.1332-316C>A c.1263G>T (p.Thr421=) c.1365G>T (p.Thr455=) c.1305G>T (p.Thr435=) n.3607-316C>A n.4043-316C>A c.1188G>T (p.Thr396=) c.1206G>T (p.Thr402=) c.963G>T (p.Thr321=) c.996G>T (p.Thr332=) c.1014G>T (p.Thr338=) | |
2 | g.127428581G>A | CA348405490 | PROC | c.1021G>A (p.Gly341Ser) c.345G>A c.1123G>A (p.Gly375Ser) c.1204G>A (p.Gly402Ser) c.1186G>A (p.Gly396Ser) c.1084G>A (p.Gly362Ser) n.1332-317C>T c.1264G>A (p.Gly422Ser) c.1366G>A (p.Gly456Ser) c.1306G>A (p.Gly436Ser) n.3607-317C>T n.4043-317C>T c.1189G>A (p.Gly397Ser) c.1207G>A (p.Gly403Ser) c.964G>A (p.Gly322Ser) c.997G>A (p.Gly333Ser) c.1015G>A (p.Gly339Ser) | COSMIC COSMIC |
2 | g.127428581G>C | CA348405493 | PROC | c.1021G>C (p.Gly341Arg) c.345G>C c.1123G>C (p.Gly375Arg) c.1204G>C (p.Gly402Arg) c.1186G>C (p.Gly396Arg) c.1084G>C (p.Gly362Arg) n.1332-317C>G c.1264G>C (p.Gly422Arg) c.1366G>C (p.Gly456Arg) c.1306G>C (p.Gly436Arg) n.3607-317C>G n.4043-317C>G c.1189G>C (p.Gly397Arg) c.1207G>C (p.Gly403Arg) c.964G>C (p.Gly322Arg) c.997G>C (p.Gly333Arg) c.1015G>C (p.Gly339Arg) | |
2 | g.127428581G>T | CA348405495 | PROC | c.1021G>T (p.Gly341Cys) c.345G>T c.1123G>T (p.Gly375Cys) c.1204G>T (p.Gly402Cys) c.1186G>T (p.Gly396Cys) c.1084G>T (p.Gly362Cys) n.1332-317C>A c.1264G>T (p.Gly422Cys) c.1366G>T (p.Gly456Cys) c.1306G>T (p.Gly436Cys) n.3607-317C>A n.4043-317C>A c.1189G>T (p.Gly397Cys) c.1207G>T (p.Gly403Cys) c.964G>T (p.Gly322Cys) c.997G>T (p.Gly333Cys) c.1015G>T (p.Gly339Cys) | |
2 | g.127428582G>A | CA348405498 | PROC | c.1022G>A (p.Gly341Asp) c.346G>A c.1124G>A (p.Gly375Asp) c.1205G>A (p.Gly402Asp) c.1187G>A (p.Gly396Asp) c.1085G>A (p.Gly362Asp) n.1332-318C>T c.1265G>A (p.Gly422Asp) c.1367G>A (p.Gly456Asp) c.1307G>A (p.Gly436Asp) n.3607-318C>T n.4043-318C>T c.1190G>A (p.Gly397Asp) c.1208G>A (p.Gly403Asp) c.965G>A (p.Gly322Asp) c.998G>A (p.Gly333Asp) c.1016G>A (p.Gly339Asp) | |
2 | g.127428582G>C | CA348405501 | PROC | c.1022G>C (p.Gly341Ala) c.346G>C c.1124G>C (p.Gly375Ala) c.1205G>C (p.Gly402Ala) c.1187G>C (p.Gly396Ala) c.1085G>C (p.Gly362Ala) n.1332-318C>G c.1265G>C (p.Gly422Ala) c.1367G>C (p.Gly456Ala) c.1307G>C (p.Gly436Ala) n.3607-318C>G n.4043-318C>G c.1190G>C (p.Gly397Ala) c.1208G>C (p.Gly403Ala) c.965G>C (p.Gly322Ala) c.998G>C (p.Gly333Ala) c.1016G>C (p.Gly339Ala) | |
2 | g.127428582G>T | CA348405502 | PROC | c.1022G>T (p.Gly341Val) c.346G>T c.1124G>T (p.Gly375Val) c.1205G>T (p.Gly402Val) c.1187G>T (p.Gly396Val) c.1085G>T (p.Gly362Val) n.1332-318C>A c.1265G>T (p.Gly422Val) c.1367G>T (p.Gly456Val) c.1307G>T (p.Gly436Val) n.3607-318C>A n.4043-318C>A c.1190G>T (p.Gly397Val) c.1208G>T (p.Gly403Val) c.965G>T (p.Gly322Val) c.998G>T (p.Gly333Val) c.1016G>T (p.Gly339Val) | |
2 | g.127428583C>A | CA428871963 | PROC | c.1023C>A (p.Gly341=) c.347C>A c.1125C>A (p.Gly375=) c.1206C>A (p.Gly402=) c.1188C>A (p.Gly396=) c.1086C>A (p.Gly362=) n.1332-319G>T c.1266C>A (p.Gly422=) c.1368C>A (p.Gly456=) c.1308C>A (p.Gly436=) n.3607-319G>T n.4043-319G>T c.1191C>A (p.Gly397=) c.1209C>A (p.Gly403=) c.966C>A (p.Gly322=) c.999C>A (p.Gly333=) c.1017C>A (p.Gly339=) | |
2 | g.127428583C= | CA1286884536 | PROC | c.1023C= (p.Gly341=) c.347C= c.1125C= (p.Gly375=) c.1206C= (p.Gly402=) c.1188C= (p.Gly396=) c.1086C= (p.Gly362=) n.1332-319G= c.1266C= (p.Gly422=) c.1368C= (p.Gly456=) c.1308C= (p.Gly436=) n.3607-319G= n.4043-319G= c.1191C= (p.Gly397=) c.1209C= (p.Gly403=) c.966C= (p.Gly322=) c.999C= (p.Gly333=) c.1017C= (p.Gly339=) | |
2 | g.127428583C>G | CA428871965 | PROC | c.1023C>G (p.Gly341=) c.347C>G c.1125C>G (p.Gly375=) c.1206C>G (p.Gly402=) c.1188C>G (p.Gly396=) c.1086C>G (p.Gly362=) n.1332-319G>C c.1266C>G (p.Gly422=) c.1368C>G (p.Gly456=) c.1308C>G (p.Gly436=) n.3607-319G>C n.4043-319G>C c.1191C>G (p.Gly397=) c.1209C>G (p.Gly403=) c.966C>G (p.Gly322=) c.999C>G (p.Gly333=) c.1017C>G (p.Gly339=) | |
2 | g.127428583C>T | CA1859506 | PROC | c.1023C>T (p.Gly341=) c.347C>T c.1125C>T (p.Gly375=) c.1206C>T (p.Gly402=) c.1188C>T (p.Gly396=) c.1086C>T (p.Gly362=) n.1332-319G>A c.1266C>T (p.Gly422=) c.1368C>T (p.Gly456=) c.1308C>T (p.Gly436=) n.3607-319G>A n.4043-319G>A c.1191C>T (p.Gly397=) c.1209C>T (p.Gly403=) c.966C>T (p.Gly322=) c.999C>T (p.Gly333=) c.1017C>T (p.Gly339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428584T>A | CA348405505 | PROC | c.1024T>A (p.Trp342Arg) c.348T>A c.1126T>A (p.Trp376Arg) c.1207T>A (p.Trp403Arg) c.1189T>A (p.Trp397Arg) c.1087T>A (p.Trp363Arg) n.1332-320A>T c.1267T>A (p.Trp423Arg) c.1369T>A (p.Trp457Arg) c.1309T>A (p.Trp437Arg) n.3607-320A>T n.4043-320A>T c.1192T>A (p.Trp398Arg) c.1210T>A (p.Trp404Arg) c.967T>A (p.Trp323Arg) c.1000T>A (p.Trp334Arg) c.1018T>A (p.Trp340Arg) | |
2 | g.127428584T>C | CA348405507 | PROC | c.1024T>C (p.Trp342Arg) c.348T>C c.1126T>C (p.Trp376Arg) c.1207T>C (p.Trp403Arg) c.1189T>C (p.Trp397Arg) c.1087T>C (p.Trp363Arg) n.1332-320A>G c.1267T>C (p.Trp423Arg) c.1369T>C (p.Trp457Arg) c.1309T>C (p.Trp437Arg) n.3607-320A>G n.4043-320A>G c.1192T>C (p.Trp398Arg) c.1210T>C (p.Trp404Arg) c.967T>C (p.Trp323Arg) c.1000T>C (p.Trp334Arg) c.1018T>C (p.Trp340Arg) | ClinVar |
2 | g.127428584T>G | CA348405514 | PROC | c.1024T>G (p.Trp342Gly) c.348T>G c.1126T>G (p.Trp376Gly) c.1207T>G (p.Trp403Gly) c.1189T>G (p.Trp397Gly) c.1087T>G (p.Trp363Gly) n.1332-320A>C c.1267T>G (p.Trp423Gly) c.1369T>G (p.Trp457Gly) c.1309T>G (p.Trp437Gly) n.3607-320A>C n.4043-320A>C c.1192T>G (p.Trp398Gly) c.1210T>G (p.Trp404Gly) c.967T>G (p.Trp323Gly) c.1000T>G (p.Trp334Gly) c.1018T>G (p.Trp340Gly) | |
2 | g.127428585G>A | CA348405518 | PROC | c.1025G>A (p.Trp342Ter) c.349G>A c.1127G>A (p.Trp376Ter) c.1208G>A (p.Trp403Ter) c.1190G>A (p.Trp397Ter) c.1088G>A (p.Trp363Ter) n.1332-321C>T c.1268G>A (p.Trp423Ter) c.1370G>A (p.Trp457Ter) c.1310G>A (p.Trp437Ter) n.3607-321C>T n.4043-321C>T c.1193G>A (p.Trp398Ter) c.1211G>A (p.Trp404Ter) c.968G>A (p.Trp323Ter) c.1001G>A (p.Trp334Ter) c.1019G>A (p.Trp340Ter) | |
2 | g.127428585G>C | CA348405523 | PROC | c.1025G>C (p.Trp342Ser) c.349G>C c.1127G>C (p.Trp376Ser) c.1208G>C (p.Trp403Ser) c.1190G>C (p.Trp397Ser) c.1088G>C (p.Trp363Ser) n.1332-321C>G c.1268G>C (p.Trp423Ser) c.1370G>C (p.Trp457Ser) c.1310G>C (p.Trp437Ser) n.3607-321C>G n.4043-321C>G c.1193G>C (p.Trp398Ser) c.1211G>C (p.Trp404Ser) c.968G>C (p.Trp323Ser) c.1001G>C (p.Trp334Ser) c.1019G>C (p.Trp340Ser) | |
2 | g.127428585G>T | CA348405524 | PROC | c.1025G>T (p.Trp342Leu) c.349G>T c.1127G>T (p.Trp376Leu) c.1208G>T (p.Trp403Leu) c.1190G>T (p.Trp397Leu) c.1088G>T (p.Trp363Leu) n.1332-321C>A c.1268G>T (p.Trp423Leu) c.1370G>T (p.Trp457Leu) c.1310G>T (p.Trp437Leu) n.3607-321C>A n.4043-321C>A c.1193G>T (p.Trp398Leu) c.1211G>T (p.Trp404Leu) c.968G>T (p.Trp323Leu) c.1001G>T (p.Trp334Leu) c.1019G>T (p.Trp340Leu) | |
2 | g.127428588del | CA2586969914 | PROC | c.1028del (p.Gly343AlafsTer?) c.352del c.1130del (p.Gly377AlafsTer?) c.1211del (p.Gly404AlafsTer?) c.1193del (p.Gly398AlafsTer?) c.1091del (p.Gly364AlafsTer?) n.1332-321del c.1271del (p.Gly424AlafsTer?) c.1373del (p.Gly458AlafsTer?) c.1313del (p.Gly438AlafsTer?) n.3607-321del n.4043-321del c.1196del (p.Gly399AlafsTer?) c.1214del (p.Gly405AlafsTer?) c.971del (p.Gly324AlafsTer?) c.1004del (p.Gly335AlafsTer?) c.1022del (p.Gly341AlafsTer?) | dbSNP |
2 | g.127428586G>A | CA348405527 | PROC | c.1026G>A (p.Trp342Ter) c.350G>A c.1128G>A (p.Trp376Ter) c.1209G>A (p.Trp403Ter) c.1191G>A (p.Trp397Ter) c.1089G>A (p.Trp363Ter) n.1332-322C>T c.1269G>A (p.Trp423Ter) c.1371G>A (p.Trp457Ter) c.1311G>A (p.Trp437Ter) n.3607-322C>T n.4043-322C>T c.1194G>A (p.Trp398Ter) c.1212G>A (p.Trp404Ter) c.969G>A (p.Trp323Ter) c.1002G>A (p.Trp334Ter) c.1020G>A (p.Trp340Ter) | |
2 | g.127428586G>C | CA1859507 | PROC | c.1026G>C (p.Trp342Cys) c.350G>C c.1128G>C (p.Trp376Cys) c.1209G>C (p.Trp403Cys) c.1191G>C (p.Trp397Cys) c.1089G>C (p.Trp363Cys) n.1332-322C>G c.1269G>C (p.Trp423Cys) c.1371G>C (p.Trp457Cys) c.1311G>C (p.Trp437Cys) n.3607-322C>G n.4043-322C>G c.1194G>C (p.Trp398Cys) c.1212G>C (p.Trp404Cys) c.969G>C (p.Trp323Cys) c.1002G>C (p.Trp334Cys) c.1020G>C (p.Trp340Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428586G= | CA1286884537 | PROC | c.1026G= (p.Trp342=) c.350G= c.1128G= (p.Trp376=) c.1209G= (p.Trp403=) c.1191G= (p.Trp397=) c.1089G= (p.Trp363=) n.1332-322C= c.1269G= (p.Trp423=) c.1371G= (p.Trp457=) c.1311G= (p.Trp437=) n.3607-322C= n.4043-322C= c.1194G= (p.Trp398=) c.1212G= (p.Trp404=) c.969G= (p.Trp323=) c.1002G= (p.Trp334=) c.1020G= (p.Trp340=) | |
2 | g.127428586G>T | CA348405531 | PROC | c.1026G>T (p.Trp342Cys) c.350G>T c.1128G>T (p.Trp376Cys) c.1209G>T (p.Trp403Cys) c.1191G>T (p.Trp397Cys) c.1089G>T (p.Trp363Cys) n.1332-322C>A c.1269G>T (p.Trp423Cys) c.1371G>T (p.Trp457Cys) c.1311G>T (p.Trp437Cys) n.3607-322C>A n.4043-322C>A c.1194G>T (p.Trp398Cys) c.1212G>T (p.Trp404Cys) c.969G>T (p.Trp323Cys) c.1002G>T (p.Trp334Cys) c.1020G>T (p.Trp340Cys) | |
2 | g.127428587G>A | CA114399 | PROC | c.1027G>A (p.Gly343Ser) c.351G>A c.1129G>A (p.Gly377Ser) c.1210G>A (p.Gly404Ser) c.1192G>A (p.Gly398Ser) c.1090G>A (p.Gly364Ser) n.1332-323C>T c.1270G>A (p.Gly424Ser) c.1372G>A (p.Gly458Ser) c.1312G>A (p.Gly438Ser) n.3607-323C>T n.4043-323C>T c.1195G>A (p.Gly399Ser) c.1213G>A (p.Gly405Ser) c.970G>A (p.Gly324Ser) c.1003G>A (p.Gly335Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP |
2 | g.127428587G>C | CA348405536 | PROC | c.1027G>C (p.Gly343Arg) c.351G>C c.1129G>C (p.Gly377Arg) c.1210G>C (p.Gly404Arg) c.1192G>C (p.Gly398Arg) c.1090G>C (p.Gly364Arg) n.1332-323C>G c.1270G>C (p.Gly424Arg) c.1372G>C (p.Gly458Arg) c.1312G>C (p.Gly438Arg) n.3607-323C>G n.4043-323C>G c.1195G>C (p.Gly399Arg) c.1213G>C (p.Gly405Arg) c.970G>C (p.Gly324Arg) c.1003G>C (p.Gly335Arg) c.1021G>C (p.Gly341Arg) | |
2 | g.127428587G= | CA1286884538 | PROC | c.1027G= (p.Gly343=) c.351G= c.1129G= (p.Gly377=) c.1210G= (p.Gly404=) c.1192G= (p.Gly398=) c.1090G= (p.Gly364=) n.1332-323C= c.1270G= (p.Gly424=) c.1372G= (p.Gly458=) c.1312G= (p.Gly438=) n.3607-323C= n.4043-323C= c.1195G= (p.Gly399=) c.1213G= (p.Gly405=) c.970G= (p.Gly324=) c.1003G= (p.Gly335=) c.1021G= (p.Gly341=) | |
2 | g.127428587G>T | CA348405538 | PROC | c.1027G>T (p.Gly343Cys) c.351G>T c.1129G>T (p.Gly377Cys) c.1210G>T (p.Gly404Cys) c.1192G>T (p.Gly398Cys) c.1090G>T (p.Gly364Cys) n.1332-323C>A c.1270G>T (p.Gly424Cys) c.1372G>T (p.Gly458Cys) c.1312G>T (p.Gly438Cys) n.3607-323C>A n.4043-323C>A c.1195G>T (p.Gly399Cys) c.1213G>T (p.Gly405Cys) c.970G>T (p.Gly324Cys) c.1003G>T (p.Gly335Cys) c.1021G>T (p.Gly341Cys) | |
2 | g.127428587_127428596delinsGGCTACCACA | CA1286884539 | PROC | c.1027_1036delinsGGCTACCACA (p.Gly343=) c.351_360delinsGGCTACCACA c.1129_1138delinsGGCTACCACA (p.Gly377=) c.1210_1219delinsGGCTACCACA (p.Gly404=) c.1192_1201delinsGGCTACCACA (p.Gly398=) c.1090_1099delinsGGCTACCACA (p.Gly364=) n.1332-332_1332-323delinsTGTGGTAGCC c.1270_1279delinsGGCTACCACA (p.Gly424=) c.1372_1381delinsGGCTACCACA (p.Gly458=) c.1312_1321delinsGGCTACCACA (p.Gly438=) n.3607-332_3607-323delinsTGTGGTAGCC n.4043-332_4043-323delinsTGTGGTAGCC c.1195_1204delinsGGCTACCACA (p.Gly399=) c.1213_1222delinsGGCTACCACA (p.Gly405=) c.970_979delinsGGCTACCACA (p.Gly324=) c.1003_1012delinsGGCTACCACA (p.Gly335=) c.1021_1030delinsGGCTACCACA (p.Gly341=) | |
2 | g.127428588G>A | CA348405547 | PROC | c.1028G>A (p.Gly343Asp) c.352G>A c.1130G>A (p.Gly377Asp) c.1211G>A (p.Gly404Asp) c.1193G>A (p.Gly398Asp) c.1091G>A (p.Gly364Asp) n.1332-324C>T c.1271G>A (p.Gly424Asp) c.1373G>A (p.Gly458Asp) c.1313G>A (p.Gly438Asp) n.3607-324C>T n.4043-324C>T c.1196G>A (p.Gly399Asp) c.1214G>A (p.Gly405Asp) c.971G>A (p.Gly324Asp) c.1004G>A (p.Gly335Asp) c.1022G>A (p.Gly341Asp) | gnomAD v4 |
2 | g.127428588G>C | CA348405546 | PROC | c.1028G>C (p.Gly343Ala) c.352G>C c.1130G>C (p.Gly377Ala) c.1211G>C (p.Gly404Ala) c.1193G>C (p.Gly398Ala) c.1091G>C (p.Gly364Ala) n.1332-324C>G c.1271G>C (p.Gly424Ala) c.1373G>C (p.Gly458Ala) c.1313G>C (p.Gly438Ala) n.3607-324C>G n.4043-324C>G c.1196G>C (p.Gly399Ala) c.1214G>C (p.Gly405Ala) c.971G>C (p.Gly324Ala) c.1004G>C (p.Gly335Ala) c.1022G>C (p.Gly341Ala) | |
2 | g.127428588G>T | CA348405543 | PROC | c.1028G>T (p.Gly343Val) c.352G>T c.1130G>T (p.Gly377Val) c.1211G>T (p.Gly404Val) c.1193G>T (p.Gly398Val) c.1091G>T (p.Gly364Val) n.1332-324C>A c.1271G>T (p.Gly424Val) c.1373G>T (p.Gly458Val) c.1313G>T (p.Gly438Val) n.3607-324C>A n.4043-324C>A c.1196G>T (p.Gly399Val) c.1214G>T (p.Gly405Val) c.971G>T (p.Gly324Val) c.1004G>T (p.Gly335Val) c.1022G>T (p.Gly341Val) | |
2 | g.127428590_127428598del | CA756630933 | PROC | c.1030_1038del (p.Tyr344_Ser346del) c.354_362del c.1132_1140del (p.Tyr378_Ser380del) c.1213_1221del (p.Tyr405_Ser407del) c.1195_1203del (p.Tyr399_Ser401del) c.1093_1101del (p.Tyr365_Ser367del) n.1332-332_1332-324del c.1273_1281del (p.Tyr425_Ser427del) c.1375_1383del (p.Tyr459_Ser461del) c.1315_1323del (p.Tyr439_Ser441del) n.3607-332_3607-324del n.4043-332_4043-324del c.1198_1206del (p.Tyr400_Ser402del) c.1216_1224del (p.Tyr406_Ser408del) c.973_981del (p.Tyr325_Ser327del) c.1006_1014del (p.Tyr336_Ser338del) c.1024_1032del (p.Tyr342_Ser344del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428589C>A | CA428871992 | PROC | c.1029C>A (p.Gly343=) c.353C>A c.1131C>A (p.Gly377=) c.1212C>A (p.Gly404=) c.1194C>A (p.Gly398=) c.1092C>A (p.Gly364=) n.1332-325G>T c.1272C>A (p.Gly424=) c.1374C>A (p.Gly458=) c.1314C>A (p.Gly438=) n.3607-325G>T n.4043-325G>T c.1197C>A (p.Gly399=) c.1215C>A (p.Gly405=) c.972C>A (p.Gly324=) c.1005C>A (p.Gly335=) c.1023C>A (p.Gly341=) | |
2 | g.127428589C>G | CA428871994 | PROC | c.1029C>G (p.Gly343=) c.353C>G c.1131C>G (p.Gly377=) c.1212C>G (p.Gly404=) c.1194C>G (p.Gly398=) c.1092C>G (p.Gly364=) n.1332-325G>C c.1272C>G (p.Gly424=) c.1374C>G (p.Gly458=) c.1314C>G (p.Gly438=) n.3607-325G>C n.4043-325G>C c.1197C>G (p.Gly399=) c.1215C>G (p.Gly405=) c.972C>G (p.Gly324=) c.1005C>G (p.Gly335=) c.1023C>G (p.Gly341=) | |
2 | g.127428589C>T | CA428871996 | PROC | c.1029C>T (p.Gly343=) c.353C>T c.1131C>T (p.Gly377=) c.1212C>T (p.Gly404=) c.1194C>T (p.Gly398=) c.1092C>T (p.Gly364=) n.1332-325G>A c.1272C>T (p.Gly424=) c.1374C>T (p.Gly458=) c.1314C>T (p.Gly438=) n.3607-325G>A n.4043-325G>A c.1197C>T (p.Gly399=) c.1215C>T (p.Gly405=) c.972C>T (p.Gly324=) c.1005C>T (p.Gly335=) c.1023C>T (p.Gly341=) | |
2 | g.127428590T>A | CA1859508 | PROC | c.1030T>A (p.Tyr344Asn) c.354T>A c.1132T>A (p.Tyr378Asn) c.1213T>A (p.Tyr405Asn) c.1195T>A (p.Tyr399Asn) c.1093T>A (p.Tyr365Asn) n.1332-326A>T c.1273T>A (p.Tyr425Asn) c.1375T>A (p.Tyr459Asn) c.1315T>A (p.Tyr439Asn) n.3607-326A>T n.4043-326A>T c.1198T>A (p.Tyr400Asn) c.1216T>A (p.Tyr406Asn) c.973T>A (p.Tyr325Asn) c.1006T>A (p.Tyr336Asn) c.1024T>A (p.Tyr342Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428590T>C | CA348405548 | PROC | c.1030T>C (p.Tyr344His) c.354T>C c.1132T>C (p.Tyr378His) c.1213T>C (p.Tyr405His) c.1195T>C (p.Tyr399His) c.1093T>C (p.Tyr365His) n.1332-326A>G c.1273T>C (p.Tyr425His) c.1375T>C (p.Tyr459His) c.1315T>C (p.Tyr439His) n.3607-326A>G n.4043-326A>G c.1198T>C (p.Tyr400His) c.1216T>C (p.Tyr406His) c.973T>C (p.Tyr325His) c.1006T>C (p.Tyr336His) c.1024T>C (p.Tyr342His) | gnomAD v4 |
2 | g.127428590T>G | CA348405549 | PROC | c.1030T>G (p.Tyr344Asp) c.354T>G c.1132T>G (p.Tyr378Asp) c.1213T>G (p.Tyr405Asp) c.1195T>G (p.Tyr399Asp) c.1093T>G (p.Tyr365Asp) n.1332-326A>C c.1273T>G (p.Tyr425Asp) c.1375T>G (p.Tyr459Asp) c.1315T>G (p.Tyr439Asp) n.3607-326A>C n.4043-326A>C c.1198T>G (p.Tyr400Asp) c.1216T>G (p.Tyr406Asp) c.973T>G (p.Tyr325Asp) c.1006T>G (p.Tyr336Asp) c.1024T>G (p.Tyr342Asp) | |
2 | g.127428590T= | CA1286884540 | PROC | c.1030T= (p.Tyr344=) c.354T= c.1132T= (p.Tyr378=) c.1213T= (p.Tyr405=) c.1195T= (p.Tyr399=) c.1093T= (p.Tyr365=) n.1332-326A= c.1273T= (p.Tyr425=) c.1375T= (p.Tyr459=) c.1315T= (p.Tyr439=) n.3607-326A= n.4043-326A= c.1198T= (p.Tyr400=) c.1216T= (p.Tyr406=) c.973T= (p.Tyr325=) c.1006T= (p.Tyr336=) c.1024T= (p.Tyr342=) | |
2 | g.127428591A= | CA1286884541 | PROC | c.1031A= (p.Tyr344=) c.355A= c.1133A= (p.Tyr378=) c.1214A= (p.Tyr405=) c.1196A= (p.Tyr399=) c.1094A= (p.Tyr365=) n.1332-327T= c.1274A= (p.Tyr425=) c.1376A= (p.Tyr459=) c.1316A= (p.Tyr439=) n.3607-327T= n.4043-327T= c.1199A= (p.Tyr400=) c.1217A= (p.Tyr406=) c.974A= (p.Tyr325=) c.1007A= (p.Tyr336=) c.1025A= (p.Tyr342=) | |
2 | g.127428591A>C | CA348405551 | PROC | c.1031A>C (p.Tyr344Ser) c.355A>C c.1133A>C (p.Tyr378Ser) c.1214A>C (p.Tyr405Ser) c.1196A>C (p.Tyr399Ser) c.1094A>C (p.Tyr365Ser) n.1332-327T>G c.1274A>C (p.Tyr425Ser) c.1376A>C (p.Tyr459Ser) c.1316A>C (p.Tyr439Ser) n.3607-327T>G n.4043-327T>G c.1199A>C (p.Tyr400Ser) c.1217A>C (p.Tyr406Ser) c.974A>C (p.Tyr325Ser) c.1007A>C (p.Tyr336Ser) c.1025A>C (p.Tyr342Ser) | |
2 | g.127428591A>G | CA348405555 | PROC | c.1031A>G (p.Tyr344Cys) c.355A>G c.1133A>G (p.Tyr378Cys) c.1214A>G (p.Tyr405Cys) c.1196A>G (p.Tyr399Cys) c.1094A>G (p.Tyr365Cys) n.1332-327T>C c.1274A>G (p.Tyr425Cys) c.1376A>G (p.Tyr459Cys) c.1316A>G (p.Tyr439Cys) n.3607-327T>C n.4043-327T>C c.1199A>G (p.Tyr400Cys) c.1217A>G (p.Tyr406Cys) c.974A>G (p.Tyr325Cys) c.1007A>G (p.Tyr336Cys) c.1025A>G (p.Tyr342Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428591A>T | CA348405552 | PROC | c.1031A>T (p.Tyr344Phe) c.355A>T c.1133A>T (p.Tyr378Phe) c.1214A>T (p.Tyr405Phe) c.1196A>T (p.Tyr399Phe) c.1094A>T (p.Tyr365Phe) n.1332-327T>A c.1274A>T (p.Tyr425Phe) c.1376A>T (p.Tyr459Phe) c.1316A>T (p.Tyr439Phe) n.3607-327T>A n.4043-327T>A c.1199A>T (p.Tyr400Phe) c.1217A>T (p.Tyr406Phe) c.974A>T (p.Tyr325Phe) c.1007A>T (p.Tyr336Phe) c.1025A>T (p.Tyr342Phe) | |
2 | g.127428592C>A | CA348405557 | PROC | c.1032C>A (p.Tyr344Ter) c.356C>A c.1134C>A (p.Tyr378Ter) c.1215C>A (p.Tyr405Ter) c.1197C>A (p.Tyr399Ter) c.1095C>A (p.Tyr365Ter) n.1332-328G>T c.1275C>A (p.Tyr425Ter) c.1377C>A (p.Tyr459Ter) c.1317C>A (p.Tyr439Ter) n.3607-328G>T n.4043-328G>T c.1200C>A (p.Tyr400Ter) c.1218C>A (p.Tyr406Ter) c.975C>A (p.Tyr325Ter) c.1008C>A (p.Tyr336Ter) c.1026C>A (p.Tyr342Ter) | |
2 | g.127428592C>G | CA348405559 | PROC | c.1032C>G (p.Tyr344Ter) c.356C>G c.1134C>G (p.Tyr378Ter) c.1215C>G (p.Tyr405Ter) c.1197C>G (p.Tyr399Ter) c.1095C>G (p.Tyr365Ter) n.1332-328G>C c.1275C>G (p.Tyr425Ter) c.1377C>G (p.Tyr459Ter) c.1317C>G (p.Tyr439Ter) n.3607-328G>C n.4043-328G>C c.1200C>G (p.Tyr400Ter) c.1218C>G (p.Tyr406Ter) c.975C>G (p.Tyr325Ter) c.1008C>G (p.Tyr336Ter) c.1026C>G (p.Tyr342Ter) | |
2 | g.127428592C>T | CA428872010 | PROC | c.1032C>T (p.Tyr344=) c.356C>T c.1134C>T (p.Tyr378=) c.1215C>T (p.Tyr405=) c.1197C>T (p.Tyr399=) c.1095C>T (p.Tyr365=) n.1332-328G>A c.1275C>T (p.Tyr425=) c.1377C>T (p.Tyr459=) c.1317C>T (p.Tyr439=) n.3607-328G>A n.4043-328G>A c.1200C>T (p.Tyr400=) c.1218C>T (p.Tyr406=) c.975C>T (p.Tyr325=) c.1008C>T (p.Tyr336=) c.1026C>T (p.Tyr342=) | gnomAD v4 COSMIC COSMIC |
2 | g.127428593C>A | CA348405562 | PROC | c.1033C>A (p.His345Asn) c.357C>A c.1135C>A (p.His379Asn) c.1216C>A (p.His406Asn) c.1198C>A (p.His400Asn) c.1096C>A (p.His366Asn) n.1332-329G>T c.1276C>A (p.His426Asn) c.1378C>A (p.His460Asn) c.1318C>A (p.His440Asn) n.3607-329G>T n.4043-329G>T c.1201C>A (p.His401Asn) c.1219C>A (p.His407Asn) c.976C>A (p.His326Asn) c.1009C>A (p.His337Asn) c.1027C>A (p.His343Asn) | |
2 | g.127428593C>G | CA348405564 | PROC | c.1033C>G (p.His345Asp) c.357C>G c.1135C>G (p.His379Asp) c.1216C>G (p.His406Asp) c.1198C>G (p.His400Asp) c.1096C>G (p.His366Asp) n.1332-329G>C c.1276C>G (p.His426Asp) c.1378C>G (p.His460Asp) c.1318C>G (p.His440Asp) n.3607-329G>C n.4043-329G>C c.1201C>G (p.His401Asp) c.1219C>G (p.His407Asp) c.976C>G (p.His326Asp) c.1009C>G (p.His337Asp) c.1027C>G (p.His343Asp) | COSMIC COSMIC |
2 | g.127428593C>T | CA348405569 | PROC | c.1033C>T (p.His345Tyr) c.357C>T c.1135C>T (p.His379Tyr) c.1216C>T (p.His406Tyr) c.1198C>T (p.His400Tyr) c.1096C>T (p.His366Tyr) n.1332-329G>A c.1276C>T (p.His426Tyr) c.1378C>T (p.His460Tyr) c.1318C>T (p.His440Tyr) n.3607-329G>A n.4043-329G>A c.1201C>T (p.His401Tyr) c.1219C>T (p.His407Tyr) c.976C>T (p.His326Tyr) c.1009C>T (p.His337Tyr) c.1027C>T (p.His343Tyr) | |
2 | g.127428594A>C | CA348405571 | PROC | c.1034A>C (p.His345Pro) c.358A>C c.1136A>C (p.His379Pro) c.1217A>C (p.His406Pro) c.1199A>C (p.His400Pro) c.1097A>C (p.His366Pro) n.1332-330T>G c.1277A>C (p.His426Pro) c.1379A>C (p.His460Pro) c.1319A>C (p.His440Pro) n.3607-330T>G n.4043-330T>G c.1202A>C (p.His401Pro) c.1220A>C (p.His407Pro) c.977A>C (p.His326Pro) c.1010A>C (p.His337Pro) c.1028A>C (p.His343Pro) | |
2 | g.127428594A>G | CA348405573 | PROC | c.1034A>G (p.His345Arg) c.358A>G c.1136A>G (p.His379Arg) c.1217A>G (p.His406Arg) c.1199A>G (p.His400Arg) c.1097A>G (p.His366Arg) n.1332-330T>C c.1277A>G (p.His426Arg) c.1379A>G (p.His460Arg) c.1319A>G (p.His440Arg) n.3607-330T>C n.4043-330T>C c.1202A>G (p.His401Arg) c.1220A>G (p.His407Arg) c.977A>G (p.His326Arg) c.1010A>G (p.His337Arg) c.1028A>G (p.His343Arg) | |
2 | g.127428594A>T | CA348405575 | PROC | c.1034A>T (p.His345Leu) c.358A>T c.1136A>T (p.His379Leu) c.1217A>T (p.His406Leu) c.1199A>T (p.His400Leu) c.1097A>T (p.His366Leu) n.1332-330T>A c.1277A>T (p.His426Leu) c.1379A>T (p.His460Leu) c.1319A>T (p.His440Leu) n.3607-330T>A n.4043-330T>A c.1202A>T (p.His401Leu) c.1220A>T (p.His407Leu) c.977A>T (p.His326Leu) c.1010A>T (p.His337Leu) c.1028A>T (p.His343Leu) | |
2 | g.127428595C>A | CA348405577 | PROC | c.1035C>A (p.His345Gln) c.359C>A c.1137C>A (p.His379Gln) c.1218C>A (p.His406Gln) c.1200C>A (p.His400Gln) c.1098C>A (p.His366Gln) n.1332-331G>T c.1278C>A (p.His426Gln) c.1380C>A (p.His460Gln) c.1320C>A (p.His440Gln) n.3607-331G>T n.4043-331G>T c.1203C>A (p.His401Gln) c.1221C>A (p.His407Gln) c.978C>A (p.His326Gln) c.1011C>A (p.His337Gln) c.1029C>A (p.His343Gln) | COSMIC |
2 | g.127428595C= | CA1286884542 | PROC | c.1035C= (p.His345=) c.359C= c.1137C= (p.His379=) c.1218C= (p.His406=) c.1200C= (p.His400=) c.1098C= (p.His366=) n.1332-331G= c.1278C= (p.His426=) c.1380C= (p.His460=) c.1320C= (p.His440=) n.3607-331G= n.4043-331G= c.1203C= (p.His401=) c.1221C= (p.His407=) c.978C= (p.His326=) c.1011C= (p.His337=) c.1029C= (p.His343=) | |
2 | g.127428595C>G | CA55350962 | PROC | c.1035C>G (p.His345Gln) c.359C>G c.1137C>G (p.His379Gln) c.1218C>G (p.His406Gln) c.1200C>G (p.His400Gln) c.1098C>G (p.His366Gln) n.1332-331G>C c.1278C>G (p.His426Gln) c.1380C>G (p.His460Gln) c.1320C>G (p.His440Gln) n.3607-331G>C n.4043-331G>C c.1203C>G (p.His401Gln) c.1221C>G (p.His407Gln) c.978C>G (p.His326Gln) c.1011C>G (p.His337Gln) c.1029C>G (p.His343Gln) | dbSNP |
2 | g.127428595C>T | CA428872022 | PROC | c.1035C>T (p.His345=) c.359C>T c.1137C>T (p.His379=) c.1218C>T (p.His406=) c.1200C>T (p.His400=) c.1098C>T (p.His366=) n.1332-331G>A c.1278C>T (p.His426=) c.1380C>T (p.His460=) c.1320C>T (p.His440=) n.3607-331G>A n.4043-331G>A c.1203C>T (p.His401=) c.1221C>T (p.His407=) c.978C>T (p.His326=) c.1011C>T (p.His337=) c.1029C>T (p.His343=) | |
2 | g.127428596A>C | CA348405581 | PROC | c.1036A>C (p.Ser346Arg) c.360A>C c.1138A>C (p.Ser380Arg) c.1219A>C (p.Ser407Arg) c.1201A>C (p.Ser401Arg) c.1099A>C (p.Ser367Arg) n.1332-332T>G c.1279A>C (p.Ser427Arg) c.1381A>C (p.Ser461Arg) c.1321A>C (p.Ser441Arg) n.3607-332T>G n.4043-332T>G c.1204A>C (p.Ser402Arg) c.1222A>C (p.Ser408Arg) c.979A>C (p.Ser327Arg) c.1012A>C (p.Ser338Arg) c.1030A>C (p.Ser344Arg) | |
2 | g.127428596A>G | CA348405583 | PROC | c.1036A>G (p.Ser346Gly) c.360A>G c.1138A>G (p.Ser380Gly) c.1219A>G (p.Ser407Gly) c.1201A>G (p.Ser401Gly) c.1099A>G (p.Ser367Gly) n.1332-332T>C c.1279A>G (p.Ser427Gly) c.1381A>G (p.Ser461Gly) c.1321A>G (p.Ser441Gly) n.3607-332T>C n.4043-332T>C c.1204A>G (p.Ser402Gly) c.1222A>G (p.Ser408Gly) c.979A>G (p.Ser327Gly) c.1012A>G (p.Ser338Gly) c.1030A>G (p.Ser344Gly) | |
2 | g.127428596A>T | CA348405585 | PROC | c.1036A>T (p.Ser346Cys) c.360A>T c.1138A>T (p.Ser380Cys) c.1219A>T (p.Ser407Cys) c.1201A>T (p.Ser401Cys) c.1099A>T (p.Ser367Cys) n.1332-332T>A c.1279A>T (p.Ser427Cys) c.1381A>T (p.Ser461Cys) c.1321A>T (p.Ser441Cys) n.3607-332T>A n.4043-332T>A c.1204A>T (p.Ser402Cys) c.1222A>T (p.Ser408Cys) c.979A>T (p.Ser327Cys) c.1012A>T (p.Ser338Cys) c.1030A>T (p.Ser344Cys) | |
2 | g.127428597G>A | CA348405588 | PROC | c.1037G>A (p.Ser346Asn) c.361G>A c.1139G>A (p.Ser380Asn) c.1220G>A (p.Ser407Asn) c.1202G>A (p.Ser401Asn) c.1100G>A (p.Ser367Asn) n.1332-333C>T c.1280G>A (p.Ser427Asn) c.1382G>A (p.Ser461Asn) c.1322G>A (p.Ser441Asn) n.3607-333C>T n.4043-333C>T c.1205G>A (p.Ser402Asn) c.1223G>A (p.Ser408Asn) c.980G>A (p.Ser327Asn) c.1013G>A (p.Ser338Asn) c.1031G>A (p.Ser344Asn) | |
2 | g.127428597G>C | CA348405592 | PROC | c.1037G>C (p.Ser346Thr) c.361G>C c.1139G>C (p.Ser380Thr) c.1220G>C (p.Ser407Thr) c.1202G>C (p.Ser401Thr) c.1100G>C (p.Ser367Thr) n.1332-333C>G c.1280G>C (p.Ser427Thr) c.1382G>C (p.Ser461Thr) c.1322G>C (p.Ser441Thr) n.3607-333C>G n.4043-333C>G c.1205G>C (p.Ser402Thr) c.1223G>C (p.Ser408Thr) c.980G>C (p.Ser327Thr) c.1013G>C (p.Ser338Thr) c.1031G>C (p.Ser344Thr) | |
2 | g.127428597G>T | CA348405590 | PROC | c.1037G>T (p.Ser346Ile) c.361G>T c.1139G>T (p.Ser380Ile) c.1220G>T (p.Ser407Ile) c.1202G>T (p.Ser401Ile) c.1100G>T (p.Ser367Ile) n.1332-333C>A c.1280G>T (p.Ser427Ile) c.1382G>T (p.Ser461Ile) c.1322G>T (p.Ser441Ile) n.3607-333C>A n.4043-333C>A c.1205G>T (p.Ser402Ile) c.1223G>T (p.Ser408Ile) c.980G>T (p.Ser327Ile) c.1013G>T (p.Ser338Ile) c.1031G>T (p.Ser344Ile) | |
2 | g.127428598C>A | CA348405595 | PROC | c.1038C>A (p.Ser346Arg) c.362C>A c.1140C>A (p.Ser380Arg) c.1221C>A (p.Ser407Arg) c.1203C>A (p.Ser401Arg) c.1101C>A (p.Ser367Arg) n.1332-334G>T c.1281C>A (p.Ser427Arg) c.1383C>A (p.Ser461Arg) c.1323C>A (p.Ser441Arg) n.3607-334G>T n.4043-334G>T c.1206C>A (p.Ser402Arg) c.1224C>A (p.Ser408Arg) c.981C>A (p.Ser327Arg) c.1014C>A (p.Ser338Arg) c.1032C>A (p.Ser344Arg) | |
2 | g.127428598C>G | CA348405596 | PROC | c.1038C>G (p.Ser346Arg) c.362C>G c.1140C>G (p.Ser380Arg) c.1221C>G (p.Ser407Arg) c.1203C>G (p.Ser401Arg) c.1101C>G (p.Ser367Arg) n.1332-334G>C c.1281C>G (p.Ser427Arg) c.1383C>G (p.Ser461Arg) c.1323C>G (p.Ser441Arg) n.3607-334G>C n.4043-334G>C c.1206C>G (p.Ser402Arg) c.1224C>G (p.Ser408Arg) c.981C>G (p.Ser327Arg) c.1014C>G (p.Ser338Arg) c.1032C>G (p.Ser344Arg) | |
2 | g.127428598C>T | CA428872035 | PROC | c.1038C>T (p.Ser346=) c.362C>T c.1140C>T (p.Ser380=) c.1221C>T (p.Ser407=) c.1203C>T (p.Ser401=) c.1101C>T (p.Ser367=) n.1332-334G>A c.1281C>T (p.Ser427=) c.1383C>T (p.Ser461=) c.1323C>T (p.Ser441=) n.3607-334G>A n.4043-334G>A c.1206C>T (p.Ser402=) c.1224C>T (p.Ser408=) c.981C>T (p.Ser327=) c.1014C>T (p.Ser338=) c.1032C>T (p.Ser344=) | |
2 | g.127428599A>C | CA348405599 | PROC | c.1039A>C (p.Ser347Arg) c.363A>C c.1141A>C (p.Ser381Arg) c.1222A>C (p.Ser408Arg) c.1204A>C (p.Ser402Arg) c.1102A>C (p.Ser368Arg) n.1332-335T>G c.1282A>C (p.Ser428Arg) c.1384A>C (p.Ser462Arg) c.1324A>C (p.Ser442Arg) n.3607-335T>G n.4043-335T>G c.1207A>C (p.Ser403Arg) c.1225A>C (p.Ser409Arg) c.982A>C (p.Ser328Arg) c.1015A>C (p.Ser339Arg) c.1033A>C (p.Ser345Arg) | |
2 | g.127428599A>G | CA348405601 | PROC | c.1039A>G (p.Ser347Gly) c.363A>G c.1141A>G (p.Ser381Gly) c.1222A>G (p.Ser408Gly) c.1204A>G (p.Ser402Gly) c.1102A>G (p.Ser368Gly) n.1332-335T>C c.1282A>G (p.Ser428Gly) c.1384A>G (p.Ser462Gly) c.1324A>G (p.Ser442Gly) n.3607-335T>C n.4043-335T>C c.1207A>G (p.Ser403Gly) c.1225A>G (p.Ser409Gly) c.982A>G (p.Ser328Gly) c.1015A>G (p.Ser339Gly) c.1033A>G (p.Ser345Gly) | gnomAD v4 |
2 | g.127428599A>T | CA348405603 | PROC | c.1039A>T (p.Ser347Cys) c.363A>T c.1141A>T (p.Ser381Cys) c.1222A>T (p.Ser408Cys) c.1204A>T (p.Ser402Cys) c.1102A>T (p.Ser368Cys) n.1332-335T>A c.1282A>T (p.Ser428Cys) c.1384A>T (p.Ser462Cys) c.1324A>T (p.Ser442Cys) n.3607-335T>A n.4043-335T>A c.1207A>T (p.Ser403Cys) c.1225A>T (p.Ser409Cys) c.982A>T (p.Ser328Cys) c.1015A>T (p.Ser339Cys) c.1033A>T (p.Ser345Cys) | |
2 | g.127428600G>A | CA348405605 | PROC | c.1040G>A (p.Ser347Asn) c.364G>A c.1142G>A (p.Ser381Asn) c.1223G>A (p.Ser408Asn) c.1205G>A (p.Ser402Asn) c.1103G>A (p.Ser368Asn) n.1332-336C>T c.1283G>A (p.Ser428Asn) c.1385G>A (p.Ser462Asn) c.1325G>A (p.Ser442Asn) n.3607-336C>T n.4043-336C>T c.1208G>A (p.Ser403Asn) c.1226G>A (p.Ser409Asn) c.983G>A (p.Ser328Asn) c.1016G>A (p.Ser339Asn) c.1034G>A (p.Ser345Asn) | |
2 | g.127428600G>C | CA348405606 | PROC | c.1040G>C (p.Ser347Thr) c.364G>C c.1142G>C (p.Ser381Thr) c.1223G>C (p.Ser408Thr) c.1205G>C (p.Ser402Thr) c.1103G>C (p.Ser368Thr) n.1332-336C>G c.1283G>C (p.Ser428Thr) c.1385G>C (p.Ser462Thr) c.1325G>C (p.Ser442Thr) n.3607-336C>G n.4043-336C>G c.1208G>C (p.Ser403Thr) c.1226G>C (p.Ser409Thr) c.983G>C (p.Ser328Thr) c.1016G>C (p.Ser339Thr) c.1034G>C (p.Ser345Thr) | |
2 | g.127428600G>T | CA348405609 | PROC | c.1040G>T (p.Ser347Ile) c.364G>T c.1142G>T (p.Ser381Ile) c.1223G>T (p.Ser408Ile) c.1205G>T (p.Ser402Ile) c.1103G>T (p.Ser368Ile) n.1332-336C>A c.1283G>T (p.Ser428Ile) c.1385G>T (p.Ser462Ile) c.1325G>T (p.Ser442Ile) n.3607-336C>A n.4043-336C>A c.1208G>T (p.Ser403Ile) c.1226G>T (p.Ser409Ile) c.983G>T (p.Ser328Ile) c.1016G>T (p.Ser339Ile) c.1034G>T (p.Ser345Ile) | |
2 | g.127428603_127428616dup | CA2660997781 | PROC | c.1043_1056dup (p.Lys353GlufsTer30) c.367_380dup c.1145_1158dup (p.Lys387GlufsTer30) c.1226_1239dup (p.Lys414GlufsTer30) c.1208_1221dup (p.Lys408GlufsTer30) c.1106_1119dup (p.Lys374GlufsTer30) n.1332-349_1332-336dup c.1286_1299dup (p.Lys434GlufsTer30) c.1388_1401dup (p.Lys468GlufsTer30) c.1328_1341dup (p.Lys448GlufsTer30) n.3607-349_3607-336dup n.4043-349_4043-336dup c.1211_1224dup (p.Lys409GlufsTer30) c.1229_1242dup (p.Lys415GlufsTer30) c.986_999dup (p.Lys334GlufsTer30) c.1019_1032dup (p.Lys345GlufsTer30) c.1037_1050dup (p.Lys351GlufsTer30) | gnomAD v4 |
2 | g.127428601C>A | CA348405611 | PROC | c.1041C>A (p.Ser347Arg) c.365C>A c.1143C>A (p.Ser381Arg) c.1224C>A (p.Ser408Arg) c.1206C>A (p.Ser402Arg) c.1104C>A (p.Ser368Arg) n.1332-337G>T c.1284C>A (p.Ser428Arg) c.1386C>A (p.Ser462Arg) c.1326C>A (p.Ser442Arg) n.3607-337G>T n.4043-337G>T c.1209C>A (p.Ser403Arg) c.1227C>A (p.Ser409Arg) c.984C>A (p.Ser328Arg) c.1017C>A (p.Ser339Arg) c.1035C>A (p.Ser345Arg) | COSMIC |
2 | g.127428601C>G | CA348405613 | PROC | c.1041C>G (p.Ser347Arg) c.365C>G c.1143C>G (p.Ser381Arg) c.1224C>G (p.Ser408Arg) c.1206C>G (p.Ser402Arg) c.1104C>G (p.Ser368Arg) n.1332-337G>C c.1284C>G (p.Ser428Arg) c.1386C>G (p.Ser462Arg) c.1326C>G (p.Ser442Arg) n.3607-337G>C n.4043-337G>C c.1209C>G (p.Ser403Arg) c.1227C>G (p.Ser409Arg) c.984C>G (p.Ser328Arg) c.1017C>G (p.Ser339Arg) c.1035C>G (p.Ser345Arg) | |
2 | g.127428601C>T | CA428872046 | PROC | c.1041C>T (p.Ser347=) c.365C>T c.1143C>T (p.Ser381=) c.1224C>T (p.Ser408=) c.1206C>T (p.Ser402=) c.1104C>T (p.Ser368=) n.1332-337G>A c.1284C>T (p.Ser428=) c.1386C>T (p.Ser462=) c.1326C>T (p.Ser442=) n.3607-337G>A n.4043-337G>A c.1209C>T (p.Ser403=) c.1227C>T (p.Ser409=) c.984C>T (p.Ser328=) c.1017C>T (p.Ser339=) c.1035C>T (p.Ser345=) | |
2 | g.127428602C>A | CA428872050 | PROC | c.1042C>A (p.Arg348=) c.366C>A c.1144C>A (p.Arg382=) c.1225C>A (p.Arg409=) c.1207C>A (p.Arg403=) c.1105C>A (p.Arg369=) n.1332-338G>T c.1285C>A (p.Arg429=) c.1387C>A (p.Arg463=) c.1327C>A (p.Arg443=) n.3607-338G>T n.4043-338G>T c.1210C>A (p.Arg404=) c.1228C>A (p.Arg410=) c.985C>A (p.Arg329=) c.1018C>A (p.Arg340=) c.1036C>A (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428602C= | CA1286884543 | PROC | c.1042C= (p.Arg348=) c.366C= c.1144C= (p.Arg382=) c.1225C= (p.Arg409=) c.1207C= (p.Arg403=) c.1105C= (p.Arg369=) n.1332-338G= c.1285C= (p.Arg429=) c.1387C= (p.Arg463=) c.1327C= (p.Arg443=) n.3607-338G= n.4043-338G= c.1210C= (p.Arg404=) c.1228C= (p.Arg410=) c.985C= (p.Arg329=) c.1018C= (p.Arg340=) c.1036C= (p.Arg346=) | |
2 | g.127428602C>G | CA348405616 | PROC | c.1042C>G (p.Arg348Gly) c.366C>G c.1144C>G (p.Arg382Gly) c.1225C>G (p.Arg409Gly) c.1207C>G (p.Arg403Gly) c.1105C>G (p.Arg369Gly) n.1332-338G>C c.1285C>G (p.Arg429Gly) c.1387C>G (p.Arg463Gly) c.1327C>G (p.Arg443Gly) n.3607-338G>C n.4043-338G>C c.1210C>G (p.Arg404Gly) c.1228C>G (p.Arg410Gly) c.985C>G (p.Arg329Gly) c.1018C>G (p.Arg340Gly) c.1036C>G (p.Arg346Gly) | |
2 | g.127428602C>T | CA114384 | PROC | c.1042C>T (p.Arg348Ter) c.366C>T c.1144C>T (p.Arg382Ter) c.1225C>T (p.Arg409Ter) c.1207C>T (p.Arg403Ter) c.1105C>T (p.Arg369Ter) n.1332-338G>A c.1285C>T (p.Arg429Ter) c.1387C>T (p.Arg463Ter) c.1327C>T (p.Arg443Ter) n.3607-338G>A n.4043-338G>A c.1210C>T (p.Arg404Ter) c.1228C>T (p.Arg410Ter) c.985C>T (p.Arg329Ter) c.1018C>T (p.Arg340Ter) c.1036C>T (p.Arg346Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428602_127428604delinsCGA | CA1286884544 | PROC | c.1042_1044delinsCGA (p.Arg348=) c.366_368delinsCGA c.1144_1146delinsCGA (p.Arg382=) c.1225_1227delinsCGA (p.Arg409=) c.1207_1209delinsCGA (p.Arg403=) c.1105_1107delinsCGA (p.Arg369=) n.1332-340_1332-338delinsTCG c.1285_1287delinsCGA (p.Arg429=) c.1387_1389delinsCGA (p.Arg463=) c.1327_1329delinsCGA (p.Arg443=) n.3607-340_3607-338delinsTCG n.4043-340_4043-338delinsTCG c.1210_1212delinsCGA (p.Arg404=) c.1228_1230delinsCGA (p.Arg410=) c.985_987delinsCGA (p.Arg329=) c.1018_1020delinsCGA (p.Arg340=) c.1036_1038delinsCGA (p.Arg346=) | |
2 | g.127428603G>A | CA1859509 | PROC | c.1043G>A (p.Arg348Gln) c.367G>A c.1145G>A (p.Arg382Gln) c.1226G>A (p.Arg409Gln) c.1208G>A (p.Arg403Gln) c.1106G>A (p.Arg369Gln) n.1332-339C>T c.1286G>A (p.Arg429Gln) c.1388G>A (p.Arg463Gln) c.1328G>A (p.Arg443Gln) n.3607-339C>T n.4043-339C>T c.1211G>A (p.Arg404Gln) c.1229G>A (p.Arg410Gln) c.986G>A (p.Arg329Gln) c.1019G>A (p.Arg340Gln) c.1037G>A (p.Arg346Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428603G>C | CA348405619 | PROC | c.1043G>C (p.Arg348Pro) c.367G>C c.1145G>C (p.Arg382Pro) c.1226G>C (p.Arg409Pro) c.1208G>C (p.Arg403Pro) c.1106G>C (p.Arg369Pro) n.1332-339C>G c.1286G>C (p.Arg429Pro) c.1388G>C (p.Arg463Pro) c.1328G>C (p.Arg443Pro) n.3607-339C>G n.4043-339C>G c.1211G>C (p.Arg404Pro) c.1229G>C (p.Arg410Pro) c.986G>C (p.Arg329Pro) c.1019G>C (p.Arg340Pro) c.1037G>C (p.Arg346Pro) | |
2 | g.127428603G= | CA1286884545 | PROC | c.1043G= (p.Arg348=) c.367G= c.1145G= (p.Arg382=) c.1226G= (p.Arg409=) c.1208G= (p.Arg403=) c.1106G= (p.Arg369=) n.1332-339C= c.1286G= (p.Arg429=) c.1388G= (p.Arg463=) c.1328G= (p.Arg443=) n.3607-339C= n.4043-339C= c.1211G= (p.Arg404=) c.1229G= (p.Arg410=) c.986G= (p.Arg329=) c.1019G= (p.Arg340=) c.1037G= (p.Arg346=) | |
2 | g.127428603G>T | CA348405621 | PROC | c.1043G>T (p.Arg348Leu) c.367G>T c.1145G>T (p.Arg382Leu) c.1226G>T (p.Arg409Leu) c.1208G>T (p.Arg403Leu) c.1106G>T (p.Arg369Leu) n.1332-339C>A c.1286G>T (p.Arg429Leu) c.1388G>T (p.Arg463Leu) c.1328G>T (p.Arg443Leu) n.3607-339C>A n.4043-339C>A c.1211G>T (p.Arg404Leu) c.1229G>T (p.Arg410Leu) c.986G>T (p.Arg329Leu) c.1019G>T (p.Arg340Leu) c.1037G>T (p.Arg346Leu) | |
2 | g.127428607_127428608del | CA536067712 | PROC | c.1047_1048del (p.Lys350GlyfsTer22) c.371_372del c.1149_1150del (p.Lys384GlyfsTer22) c.1230_1231del (p.Lys411GlyfsTer22) c.1212_1213del (p.Lys405GlyfsTer22) c.1110_1111del (p.Lys371GlyfsTer22) n.1332-340_1332-339del c.1290_1291del (p.Lys431GlyfsTer22) c.1392_1393del (p.Lys465GlyfsTer22) c.1332_1333del (p.Lys445GlyfsTer22) n.3607-340_3607-339del n.4043-340_4043-339del c.1215_1216del (p.Lys406GlyfsTer22) c.1233_1234del (p.Lys412GlyfsTer22) c.990_991del (p.Lys331GlyfsTer22) c.1023_1024del (p.Lys342GlyfsTer22) c.1041_1042del (p.Lys348GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428604A>C | CA428872060 | PROC | c.1044A>C (p.Arg348=) c.368A>C c.1146A>C (p.Arg382=) c.1227A>C (p.Arg409=) c.1209A>C (p.Arg403=) c.1107A>C (p.Arg369=) n.1332-340T>G c.1287A>C (p.Arg429=) c.1389A>C (p.Arg463=) c.1329A>C (p.Arg443=) n.3607-340T>G n.4043-340T>G c.1212A>C (p.Arg404=) c.1230A>C (p.Arg410=) c.987A>C (p.Arg329=) c.1020A>C (p.Arg340=) c.1038A>C (p.Arg346=) | |
2 | g.127428604A>G | CA428872062 | PROC | c.1044A>G (p.Arg348=) c.368A>G c.1146A>G (p.Arg382=) c.1227A>G (p.Arg409=) c.1209A>G (p.Arg403=) c.1107A>G (p.Arg369=) n.1332-340T>C c.1287A>G (p.Arg429=) c.1389A>G (p.Arg463=) c.1329A>G (p.Arg443=) n.3607-340T>C n.4043-340T>C c.1212A>G (p.Arg404=) c.1230A>G (p.Arg410=) c.987A>G (p.Arg329=) c.1020A>G (p.Arg340=) c.1038A>G (p.Arg346=) | gnomAD v4 |
2 | g.127428604A>T | CA428872064 | PROC | c.1044A>T (p.Arg348=) c.368A>T c.1146A>T (p.Arg382=) c.1227A>T (p.Arg409=) c.1209A>T (p.Arg403=) c.1107A>T (p.Arg369=) n.1332-340T>A c.1287A>T (p.Arg429=) c.1389A>T (p.Arg463=) c.1329A>T (p.Arg443=) n.3607-340T>A n.4043-340T>A c.1212A>T (p.Arg404=) c.1230A>T (p.Arg410=) c.987A>T (p.Arg329=) c.1020A>T (p.Arg340=) c.1038A>T (p.Arg346=) | |
2 | g.127428605G>A | CA348405624 | PROC | c.1045G>A (p.Glu349Lys) c.369G>A c.1147G>A (p.Glu383Lys) c.1228G>A (p.Glu410Lys) c.1210G>A (p.Glu404Lys) c.1108G>A (p.Glu370Lys) n.1332-341C>T c.1288G>A (p.Glu430Lys) c.1390G>A (p.Glu464Lys) c.1330G>A (p.Glu444Lys) n.3607-341C>T n.4043-341C>T c.1213G>A (p.Glu405Lys) c.1231G>A (p.Glu411Lys) c.988G>A (p.Glu330Lys) c.1021G>A (p.Glu341Lys) c.1039G>A (p.Glu347Lys) | |
2 | g.127428605G>C | CA348405625 | PROC | c.1045G>C (p.Glu349Gln) c.369G>C c.1147G>C (p.Glu383Gln) c.1228G>C (p.Glu410Gln) c.1210G>C (p.Glu404Gln) c.1108G>C (p.Glu370Gln) n.1332-341C>G c.1288G>C (p.Glu430Gln) c.1390G>C (p.Glu464Gln) c.1330G>C (p.Glu444Gln) n.3607-341C>G n.4043-341C>G c.1213G>C (p.Glu405Gln) c.1231G>C (p.Glu411Gln) c.988G>C (p.Glu330Gln) c.1021G>C (p.Glu341Gln) c.1039G>C (p.Glu347Gln) | |
2 | g.127428605G>T | CA348405626 | PROC | c.1045G>T (p.Glu349Ter) c.369G>T c.1147G>T (p.Glu383Ter) c.1228G>T (p.Glu410Ter) c.1210G>T (p.Glu404Ter) c.1108G>T (p.Glu370Ter) n.1332-341C>A c.1288G>T (p.Glu430Ter) c.1390G>T (p.Glu464Ter) c.1330G>T (p.Glu444Ter) n.3607-341C>A n.4043-341C>A c.1213G>T (p.Glu405Ter) c.1231G>T (p.Glu411Ter) c.988G>T (p.Glu330Ter) c.1021G>T (p.Glu341Ter) c.1039G>T (p.Glu347Ter) |