| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428502C>A | CA428871558 | PROC | c.942C>A (p.Thr314=) c.266C>A c.1044C>A (p.Thr348=) c.1125C>A (p.Thr375=) c.1107C>A (p.Thr369=) c.1005C>A (p.Thr335=) n.1332-238G>T c.1185C>A (p.Thr395=) c.1287C>A (p.Thr429=) c.1227C>A (p.Thr409=) n.3607-238G>T n.4043-238G>T c.1110C>A (p.Thr370=) c.1128C>A (p.Thr376=) c.885C>A (p.Thr295=) c.918C>A (p.Thr306=) c.936C>A (p.Thr312=) | |
| 2 | g.127428502C= | CA1286884502 | PROC | c.942C= (p.Thr314=) c.266C= c.1044C= (p.Thr348=) c.1125C= (p.Thr375=) c.1107C= (p.Thr369=) c.1005C= (p.Thr335=) n.1332-238G= c.1185C= (p.Thr395=) c.1287C= (p.Thr429=) c.1227C= (p.Thr409=) n.3607-238G= n.4043-238G= c.1110C= (p.Thr370=) c.1128C= (p.Thr376=) c.885C= (p.Thr295=) c.918C= (p.Thr306=) c.936C= (p.Thr312=) | |
| 2 | g.127428502C>G | CA1859490 | PROC | c.942C>G (p.Thr314=) c.266C>G c.1044C>G (p.Thr348=) c.1125C>G (p.Thr375=) c.1107C>G (p.Thr369=) c.1005C>G (p.Thr335=) n.1332-238G>C c.1185C>G (p.Thr395=) c.1287C>G (p.Thr429=) c.1227C>G (p.Thr409=) n.3607-238G>C n.4043-238G>C c.1110C>G (p.Thr370=) c.1128C>G (p.Thr376=) c.885C>G (p.Thr295=) c.918C>G (p.Thr306=) c.936C>G (p.Thr312=) | dbSNP ExAC gnomAD v2 |
| 2 | g.127428502C>T | CA428871561 | PROC | c.942C>T (p.Thr314=) c.266C>T c.1044C>T (p.Thr348=) c.1125C>T (p.Thr375=) c.1107C>T (p.Thr369=) c.1005C>T (p.Thr335=) n.1332-238G>A c.1185C>T (p.Thr395=) c.1287C>T (p.Thr429=) c.1227C>T (p.Thr409=) n.3607-238G>A n.4043-238G>A c.1110C>T (p.Thr370=) c.1128C>T (p.Thr376=) c.885C>T (p.Thr295=) c.918C>T (p.Thr306=) c.936C>T (p.Thr312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428503A>C | CA348404980 | PROC | c.943A>C (p.Ile315Leu) c.267A>C c.1045A>C (p.Ile349Leu) c.1126A>C (p.Ile376Leu) c.1108A>C (p.Ile370Leu) c.1006A>C (p.Ile336Leu) n.1332-239T>G c.1186A>C (p.Ile396Leu) c.1288A>C (p.Ile430Leu) c.1228A>C (p.Ile410Leu) n.3607-239T>G n.4043-239T>G c.1111A>C (p.Ile371Leu) c.1129A>C (p.Ile377Leu) c.886A>C (p.Ile296Leu) c.919A>C (p.Ile307Leu) c.937A>C (p.Ile313Leu) | |
| 2 | g.127428503A>G | CA348404984 | PROC | c.943A>G (p.Ile315Val) c.267A>G c.1045A>G (p.Ile349Val) c.1126A>G (p.Ile376Val) c.1108A>G (p.Ile370Val) c.1006A>G (p.Ile336Val) n.1332-239T>C c.1186A>G (p.Ile396Val) c.1288A>G (p.Ile430Val) c.1228A>G (p.Ile410Val) n.3607-239T>C n.4043-239T>C c.1111A>G (p.Ile371Val) c.1129A>G (p.Ile377Val) c.886A>G (p.Ile296Val) c.919A>G (p.Ile307Val) c.937A>G (p.Ile313Val) | |
| 2 | g.127428503A>T | CA348404981 | PROC | c.943A>T (p.Ile315Leu) c.267A>T c.1045A>T (p.Ile349Leu) c.1126A>T (p.Ile376Leu) c.1108A>T (p.Ile370Leu) c.1006A>T (p.Ile336Leu) n.1332-239T>A c.1186A>T (p.Ile396Leu) c.1288A>T (p.Ile430Leu) c.1228A>T (p.Ile410Leu) n.3607-239T>A n.4043-239T>A c.1111A>T (p.Ile371Leu) c.1129A>T (p.Ile377Leu) c.886A>T (p.Ile296Leu) c.919A>T (p.Ile307Leu) c.937A>T (p.Ile313Leu) | |
| 2 | g.127428504T>A | CA348404990 | PROC | c.944T>A (p.Ile315Lys) c.268T>A c.1046T>A (p.Ile349Lys) c.1127T>A (p.Ile376Lys) c.1109T>A (p.Ile370Lys) c.1007T>A (p.Ile336Lys) n.1332-240A>T c.1187T>A (p.Ile396Lys) c.1289T>A (p.Ile430Lys) c.1229T>A (p.Ile410Lys) n.3607-240A>T n.4043-240A>T c.1112T>A (p.Ile371Lys) c.1130T>A (p.Ile377Lys) c.887T>A (p.Ile296Lys) c.920T>A (p.Ile307Lys) c.938T>A (p.Ile313Lys) | |
| 2 | g.127428504T>C | CA348404992 | PROC | c.944T>C (p.Ile315Thr) c.268T>C c.1046T>C (p.Ile349Thr) c.1127T>C (p.Ile376Thr) c.1109T>C (p.Ile370Thr) c.1007T>C (p.Ile336Thr) n.1332-240A>G c.1187T>C (p.Ile396Thr) c.1289T>C (p.Ile430Thr) c.1229T>C (p.Ile410Thr) n.3607-240A>G n.4043-240A>G c.1112T>C (p.Ile371Thr) c.1130T>C (p.Ile377Thr) c.887T>C (p.Ile296Thr) c.920T>C (p.Ile307Thr) c.938T>C (p.Ile313Thr) | |
| 2 | g.127428504T>G | CA348404993 | PROC | c.944T>G (p.Ile315Arg) c.268T>G c.1046T>G (p.Ile349Arg) c.1127T>G (p.Ile376Arg) c.1109T>G (p.Ile370Arg) c.1007T>G (p.Ile336Arg) n.1332-240A>C c.1187T>G (p.Ile396Arg) c.1289T>G (p.Ile430Arg) c.1229T>G (p.Ile410Arg) n.3607-240A>C n.4043-240A>C c.1112T>G (p.Ile371Arg) c.1130T>G (p.Ile377Arg) c.887T>G (p.Ile296Arg) c.920T>G (p.Ile307Arg) c.938T>G (p.Ile313Arg) | |
| 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) |