Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428666del | CA2586969919 | PROC | c.1106del (p.Pro369ArgfsTer9) c.430del c.1208del (p.Pro403ArgfsTer9) c.1289del (p.Pro430ArgfsTer9) c.1271del (p.Pro424ArgfsTer9) c.1169del (p.Pro390ArgfsTer9) n.1332-400del c.1349del (p.Pro450ArgfsTer9) c.1451del (p.Pro484ArgfsTer9) c.1391del (p.Pro464ArgfsTer9) n.3607-400del n.4043-400del c.1274del (p.Pro425ArgfsTer9) c.1292del (p.Pro431ArgfsTer9) c.1049del (p.Pro350ArgfsTer9) c.1082del (p.Pro361ArgfsTer9) c.1100del (p.Pro367ArgfsTer9) | |
2 | g.127428666C>A | CA348405815 | PROC | c.1106C>A (p.Pro369Gln) c.430C>A c.1208C>A (p.Pro403Gln) c.1289C>A (p.Pro430Gln) c.1271C>A (p.Pro424Gln) c.1169C>A (p.Pro390Gln) n.1332-402G>T c.1349C>A (p.Pro450Gln) c.1451C>A (p.Pro484Gln) c.1391C>A (p.Pro464Gln) n.3607-402G>T n.4043-402G>T c.1274C>A (p.Pro425Gln) c.1292C>A (p.Pro431Gln) c.1049C>A (p.Pro350Gln) c.1082C>A (p.Pro361Gln) c.1100C>A (p.Pro367Gln) | |
2 | g.127428666C= | CA1286884576 | PROC | c.1106C= (p.Pro369=) c.430C= c.1208C= (p.Pro403=) c.1289C= (p.Pro430=) c.1271C= (p.Pro424=) c.1169C= (p.Pro390=) n.1332-402G= c.1349C= (p.Pro450=) c.1451C= (p.Pro484=) c.1391C= (p.Pro464=) n.3607-402G= n.4043-402G= c.1274C= (p.Pro425=) c.1292C= (p.Pro431=) c.1049C= (p.Pro350=) c.1082C= (p.Pro361=) c.1100C= (p.Pro367=) | |
2 | g.127428666C>G | CA348405817 | PROC | c.1106C>G (p.Pro369Arg) c.430C>G c.1208C>G (p.Pro403Arg) c.1289C>G (p.Pro430Arg) c.1271C>G (p.Pro424Arg) c.1169C>G (p.Pro390Arg) n.1332-402G>C c.1349C>G (p.Pro450Arg) c.1451C>G (p.Pro484Arg) c.1391C>G (p.Pro464Arg) n.3607-402G>C n.4043-402G>C c.1274C>G (p.Pro425Arg) c.1292C>G (p.Pro431Arg) c.1049C>G (p.Pro350Arg) c.1082C>G (p.Pro361Arg) c.1100C>G (p.Pro367Arg) | |
2 | g.127428666C>T | CA348405818 | PROC | c.1106C>T (p.Pro369Leu) c.430C>T c.1208C>T (p.Pro403Leu) c.1289C>T (p.Pro430Leu) c.1271C>T (p.Pro424Leu) c.1169C>T (p.Pro390Leu) n.1332-402G>A c.1349C>T (p.Pro450Leu) c.1451C>T (p.Pro484Leu) c.1391C>T (p.Pro464Leu) n.3607-402G>A n.4043-402G>A c.1274C>T (p.Pro425Leu) c.1292C>T (p.Pro431Leu) c.1049C>T (p.Pro350Leu) c.1082C>T (p.Pro361Leu) c.1100C>T (p.Pro367Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428667del | CA2586969920 | PROC | c.1107del (p.His370ThrfsTer8) c.431del c.1209del (p.His404ThrfsTer8) c.1290del (p.His431ThrfsTer8) c.1272del (p.His425ThrfsTer8) c.1170del (p.His391ThrfsTer8) n.1332-403del c.1350del (p.His451ThrfsTer8) c.1452del (p.His485ThrfsTer8) c.1392del (p.His465ThrfsTer8) n.3607-403del n.4043-403del c.1275del (p.His426ThrfsTer8) c.1293del (p.His432ThrfsTer8) c.1050del (p.His351ThrfsTer8) c.1083del (p.His362ThrfsTer8) c.1101del (p.His368ThrfsTer8) | |
2 | g.127428667G>A | CA1859525 | PROC | c.1107G>A (p.Pro369=) c.431G>A c.1209G>A (p.Pro403=) c.1290G>A (p.Pro430=) c.1272G>A (p.Pro424=) c.1170G>A (p.Pro390=) n.1332-403C>T c.1350G>A (p.Pro450=) c.1452G>A (p.Pro484=) c.1392G>A (p.Pro464=) n.3607-403C>T n.4043-403C>T c.1275G>A (p.Pro425=) c.1293G>A (p.Pro431=) c.1050G>A (p.Pro350=) c.1083G>A (p.Pro361=) c.1101G>A (p.Pro367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428667G>C | CA428873099 | PROC | c.1107G>C (p.Pro369=) c.431G>C c.1209G>C (p.Pro403=) c.1290G>C (p.Pro430=) c.1272G>C (p.Pro424=) c.1170G>C (p.Pro390=) n.1332-403C>G c.1350G>C (p.Pro450=) c.1452G>C (p.Pro484=) c.1392G>C (p.Pro464=) n.3607-403C>G n.4043-403C>G c.1275G>C (p.Pro425=) c.1293G>C (p.Pro431=) c.1050G>C (p.Pro350=) c.1083G>C (p.Pro361=) c.1101G>C (p.Pro367=) | |
2 | g.127428667G= | CA1286884577 | PROC | c.1107G= (p.Pro369=) c.431G= c.1209G= (p.Pro403=) c.1290G= (p.Pro430=) c.1272G= (p.Pro424=) c.1170G= (p.Pro390=) n.1332-403C= c.1350G= (p.Pro450=) c.1452G= (p.Pro484=) c.1392G= (p.Pro464=) n.3607-403C= n.4043-403C= c.1275G= (p.Pro425=) c.1293G= (p.Pro431=) c.1050G= (p.Pro350=) c.1083G= (p.Pro361=) c.1101G= (p.Pro367=) | |
2 | g.127428667G>T | CA428873102 | PROC | c.1107G>T (p.Pro369=) c.431G>T c.1209G>T (p.Pro403=) c.1290G>T (p.Pro430=) c.1272G>T (p.Pro424=) c.1170G>T (p.Pro390=) n.1332-403C>A c.1350G>T (p.Pro450=) c.1452G>T (p.Pro484=) c.1392G>T (p.Pro464=) n.3607-403C>A n.4043-403C>A c.1275G>T (p.Pro425=) c.1293G>T (p.Pro431=) c.1050G>T (p.Pro350=) c.1083G>T (p.Pro361=) c.1101G>T (p.Pro367=) | |
2 | g.127428668C>A | CA348405825 | PROC | c.1108C>A (p.His370Asn) c.432C>A c.1210C>A (p.His404Asn) c.1291C>A (p.His431Asn) c.1273C>A (p.His425Asn) c.1171C>A (p.His391Asn) n.1332-404G>T c.1351C>A (p.His451Asn) c.1453C>A (p.His485Asn) c.1393C>A (p.His465Asn) n.3607-404G>T n.4043-404G>T c.1276C>A (p.His426Asn) c.1294C>A (p.His432Asn) c.1051C>A (p.His351Asn) c.1084C>A (p.His362Asn) c.1102C>A (p.His368Asn) | |
2 | g.127428668C>G | CA348405822 | PROC | c.1108C>G (p.His370Asp) c.432C>G c.1210C>G (p.His404Asp) c.1291C>G (p.His431Asp) c.1273C>G (p.His425Asp) c.1171C>G (p.His391Asp) n.1332-404G>C c.1351C>G (p.His451Asp) c.1453C>G (p.His485Asp) c.1393C>G (p.His465Asp) n.3607-404G>C n.4043-404G>C c.1276C>G (p.His426Asp) c.1294C>G (p.His432Asp) c.1051C>G (p.His351Asp) c.1084C>G (p.His362Asp) c.1102C>G (p.His368Asp) | |
2 | g.127428668C>T | CA348405821 | PROC | c.1108C>T (p.His370Tyr) c.432C>T c.1210C>T (p.His404Tyr) c.1291C>T (p.His431Tyr) c.1273C>T (p.His425Tyr) c.1171C>T (p.His391Tyr) n.1332-404G>A c.1351C>T (p.His451Tyr) c.1453C>T (p.His485Tyr) c.1393C>T (p.His465Tyr) n.3607-404G>A n.4043-404G>A c.1276C>T (p.His426Tyr) c.1294C>T (p.His432Tyr) c.1051C>T (p.His351Tyr) c.1084C>T (p.His362Tyr) c.1102C>T (p.His368Tyr) | |
2 | g.127428669A>C | CA348405828 | PROC | c.1109A>C (p.His370Pro) c.433A>C c.1211A>C (p.His404Pro) c.1292A>C (p.His431Pro) c.1274A>C (p.His425Pro) c.1172A>C (p.His391Pro) n.1332-405T>G c.1352A>C (p.His451Pro) c.1454A>C (p.His485Pro) c.1394A>C (p.His465Pro) n.3607-405T>G n.4043-405T>G c.1277A>C (p.His426Pro) c.1295A>C (p.His432Pro) c.1052A>C (p.His351Pro) c.1085A>C (p.His362Pro) c.1103A>C (p.His368Pro) | |
2 | g.127428669A>G | CA348405827 | PROC | c.1109A>G (p.His370Arg) c.433A>G c.1211A>G (p.His404Arg) c.1292A>G (p.His431Arg) c.1274A>G (p.His425Arg) c.1172A>G (p.His391Arg) n.1332-405T>C c.1352A>G (p.His451Arg) c.1454A>G (p.His485Arg) c.1394A>G (p.His465Arg) n.3607-405T>C n.4043-405T>C c.1277A>G (p.His426Arg) c.1295A>G (p.His432Arg) c.1052A>G (p.His351Arg) c.1085A>G (p.His362Arg) c.1103A>G (p.His368Arg) | |
2 | g.127428669A>T | CA348405829 | PROC | c.1109A>T (p.His370Leu) c.433A>T c.1211A>T (p.His404Leu) c.1292A>T (p.His431Leu) c.1274A>T (p.His425Leu) c.1172A>T (p.His391Leu) n.1332-405T>A c.1352A>T (p.His451Leu) c.1454A>T (p.His485Leu) c.1394A>T (p.His465Leu) n.3607-405T>A n.4043-405T>A c.1277A>T (p.His426Leu) c.1295A>T (p.His432Leu) c.1052A>T (p.His351Leu) c.1085A>T (p.His362Leu) c.1103A>T (p.His368Leu) | |
2 | g.127428670C>A | CA1859526 | PROC | c.1110C>A (p.His370Gln) c.434C>A c.1212C>A (p.His404Gln) c.1293C>A (p.His431Gln) c.1275C>A (p.His425Gln) c.1173C>A (p.His391Gln) n.1332-406G>T c.1353C>A (p.His451Gln) c.1455C>A (p.His485Gln) c.1395C>A (p.His465Gln) n.3607-406G>T n.4043-406G>T c.1278C>A (p.His426Gln) c.1296C>A (p.His432Gln) c.1053C>A (p.His351Gln) c.1086C>A (p.His362Gln) c.1104C>A (p.His368Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428670C= | CA1286884578 | PROC | c.1110C= (p.His370=) c.434C= c.1212C= (p.His404=) c.1293C= (p.His431=) c.1275C= (p.His425=) c.1173C= (p.His391=) n.1332-406G= c.1353C= (p.His451=) c.1455C= (p.His485=) c.1395C= (p.His465=) n.3607-406G= n.4043-406G= c.1278C= (p.His426=) c.1296C= (p.His432=) c.1053C= (p.His351=) c.1086C= (p.His362=) c.1104C= (p.His368=) | |
2 | g.127428670C>G | CA348405832 | PROC | c.1110C>G (p.His370Gln) c.434C>G c.1212C>G (p.His404Gln) c.1293C>G (p.His431Gln) c.1275C>G (p.His425Gln) c.1173C>G (p.His391Gln) n.1332-406G>C c.1353C>G (p.His451Gln) c.1455C>G (p.His485Gln) c.1395C>G (p.His465Gln) n.3607-406G>C n.4043-406G>C c.1278C>G (p.His426Gln) c.1296C>G (p.His432Gln) c.1053C>G (p.His351Gln) c.1086C>G (p.His362Gln) c.1104C>G (p.His368Gln) | |
2 | g.127428670C>T | CA428873103 | PROC | c.1110C>T (p.His370=) c.434C>T c.1212C>T (p.His404=) c.1293C>T (p.His431=) c.1275C>T (p.His425=) c.1173C>T (p.His391=) n.1332-406G>A c.1353C>T (p.His451=) c.1455C>T (p.His485=) c.1395C>T (p.His465=) n.3607-406G>A n.4043-406G>A c.1278C>T (p.His426=) c.1296C>T (p.His432=) c.1053C>T (p.His351=) c.1086C>T (p.His362=) c.1104C>T (p.His368=) | |
2 | g.127428670_127428673delinsCAAT | CA1286884579 | PROC | c.1110_1113delinsCAAT (p.His370=) c.434_437delinsCAAT c.1212_1215delinsCAAT (p.His404=) c.1293_1296delinsCAAT (p.His431=) c.1275_1278delinsCAAT (p.His425=) c.1173_1176delinsCAAT (p.His391=) n.1332-409_1332-406delinsATTG c.1353_1356delinsCAAT (p.His451=) c.1455_1458delinsCAAT (p.His485=) c.1395_1398delinsCAAT (p.His465=) n.3607-409_3607-406delinsATTG n.4043-409_4043-406delinsATTG c.1278_1281delinsCAAT (p.His426=) c.1296_1299delinsCAAT (p.His432=) c.1053_1056delinsCAAT (p.His351=) c.1086_1089delinsCAAT (p.His362=) c.1104_1107delinsCAAT (p.His368=) | |
2 | g.127428671A= | CA1286884580 | PROC | c.1111A= (p.Asn371=) c.435A= c.1213A= (p.Asn405=) c.1294A= (p.Asn432=) c.1276A= (p.Asn426=) c.1174A= (p.Asn392=) n.1332-407T= c.1354A= (p.Asn452=) c.1456A= (p.Asn486=) c.1396A= (p.Asn466=) n.3607-407T= n.4043-407T= c.1279A= (p.Asn427=) c.1297A= (p.Asn433=) c.1054A= (p.Asn352=) c.1087A= (p.Asn363=) c.1105A= (p.Asn369=) | |
2 | g.127428671A>C | CA348405834 | PROC | c.1111A>C (p.Asn371His) c.435A>C c.1213A>C (p.Asn405His) c.1294A>C (p.Asn432His) c.1276A>C (p.Asn426His) c.1174A>C (p.Asn392His) n.1332-407T>G c.1354A>C (p.Asn452His) c.1456A>C (p.Asn486His) c.1396A>C (p.Asn466His) n.3607-407T>G n.4043-407T>G c.1279A>C (p.Asn427His) c.1297A>C (p.Asn433His) c.1054A>C (p.Asn352His) c.1087A>C (p.Asn363His) c.1105A>C (p.Asn369His) | |
2 | g.127428671A>G | CA1859527 | PROC | c.1111A>G (p.Asn371Asp) c.435A>G c.1213A>G (p.Asn405Asp) c.1294A>G (p.Asn432Asp) c.1276A>G (p.Asn426Asp) c.1174A>G (p.Asn392Asp) n.1332-407T>C c.1354A>G (p.Asn452Asp) c.1456A>G (p.Asn486Asp) c.1396A>G (p.Asn466Asp) n.3607-407T>C n.4043-407T>C c.1279A>G (p.Asn427Asp) c.1297A>G (p.Asn433Asp) c.1054A>G (p.Asn352Asp) c.1087A>G (p.Asn363Asp) c.1105A>G (p.Asn369Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428671A>T | CA348405837 | PROC | c.1111A>T (p.Asn371Tyr) c.435A>T c.1213A>T (p.Asn405Tyr) c.1294A>T (p.Asn432Tyr) c.1276A>T (p.Asn426Tyr) c.1174A>T (p.Asn392Tyr) n.1332-407T>A c.1354A>T (p.Asn452Tyr) c.1456A>T (p.Asn486Tyr) c.1396A>T (p.Asn466Tyr) n.3607-407T>A n.4043-407T>A c.1279A>T (p.Asn427Tyr) c.1297A>T (p.Asn433Tyr) c.1054A>T (p.Asn352Tyr) c.1087A>T (p.Asn363Tyr) c.1105A>T (p.Asn369Tyr) | |
2 | g.127428671_127428673del | CA756631136 | PROC | c.1111_1113del (p.Asn371del) c.435_437del c.1213_1215del (p.Asn405del) c.1294_1296del (p.Asn432del) c.1276_1278del (p.Asn426del) c.1174_1176del (p.Asn392del) n.1332-409_1332-407del c.1354_1356del (p.Asn452del) c.1456_1458del (p.Asn486del) c.1396_1398del (p.Asn466del) n.3607-409_3607-407del n.4043-409_4043-407del c.1279_1281del (p.Asn427del) c.1297_1299del (p.Asn433del) c.1054_1056del (p.Asn352del) c.1087_1089del (p.Asn363del) c.1105_1107del (p.Asn369del) | dbSNP |
2 | g.127428672A= | CA1286884581 | PROC | c.1112A= (p.Asn371=) c.436A= c.1214A= (p.Asn405=) c.1295A= (p.Asn432=) c.1277A= (p.Asn426=) c.1175A= (p.Asn392=) n.1332-408T= c.1355A= (p.Asn452=) c.1457A= (p.Asn486=) c.1397A= (p.Asn466=) n.3607-408T= n.4043-408T= c.1280A= (p.Asn427=) c.1298A= (p.Asn433=) c.1055A= (p.Asn352=) c.1088A= (p.Asn363=) c.1106A= (p.Asn369=) | |
2 | g.127428672A>C | CA348405838 | PROC | c.1112A>C (p.Asn371Thr) c.436A>C c.1214A>C (p.Asn405Thr) c.1295A>C (p.Asn432Thr) c.1277A>C (p.Asn426Thr) c.1175A>C (p.Asn392Thr) n.1332-408T>G c.1355A>C (p.Asn452Thr) c.1457A>C (p.Asn486Thr) c.1397A>C (p.Asn466Thr) n.3607-408T>G n.4043-408T>G c.1280A>C (p.Asn427Thr) c.1298A>C (p.Asn433Thr) c.1055A>C (p.Asn352Thr) c.1088A>C (p.Asn363Thr) c.1106A>C (p.Asn369Thr) | dbSNP gnomAD v4 |
2 | g.127428672A>G | CA348405840 | PROC | c.1112A>G (p.Asn371Ser) c.436A>G c.1214A>G (p.Asn405Ser) c.1295A>G (p.Asn432Ser) c.1277A>G (p.Asn426Ser) c.1175A>G (p.Asn392Ser) n.1332-408T>C c.1355A>G (p.Asn452Ser) c.1457A>G (p.Asn486Ser) c.1397A>G (p.Asn466Ser) n.3607-408T>C n.4043-408T>C c.1280A>G (p.Asn427Ser) c.1298A>G (p.Asn433Ser) c.1055A>G (p.Asn352Ser) c.1088A>G (p.Asn363Ser) c.1106A>G (p.Asn369Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428672A>T | CA348405841 | PROC | c.1112A>T (p.Asn371Ile) c.436A>T c.1214A>T (p.Asn405Ile) c.1295A>T (p.Asn432Ile) c.1277A>T (p.Asn426Ile) c.1175A>T (p.Asn392Ile) n.1332-408T>A c.1355A>T (p.Asn452Ile) c.1457A>T (p.Asn486Ile) c.1397A>T (p.Asn466Ile) n.3607-408T>A n.4043-408T>A c.1280A>T (p.Asn427Ile) c.1298A>T (p.Asn433Ile) c.1055A>T (p.Asn352Ile) c.1088A>T (p.Asn363Ile) c.1106A>T (p.Asn369Ile) | |
2 | g.127428673T>A | CA348405844 | PROC | c.1113T>A (p.Asn371Lys) c.437T>A c.1215T>A (p.Asn405Lys) c.1296T>A (p.Asn432Lys) c.1278T>A (p.Asn426Lys) c.1176T>A (p.Asn392Lys) n.1332-409A>T c.1356T>A (p.Asn452Lys) c.1458T>A (p.Asn486Lys) c.1398T>A (p.Asn466Lys) n.3607-409A>T n.4043-409A>T c.1281T>A (p.Asn427Lys) c.1299T>A (p.Asn433Lys) c.1056T>A (p.Asn352Lys) c.1089T>A (p.Asn363Lys) c.1107T>A (p.Asn369Lys) | |
2 | g.127428673T>C | CA428873119 | PROC | c.1113T>C (p.Asn371=) c.437T>C c.1215T>C (p.Asn405=) c.1296T>C (p.Asn432=) c.1278T>C (p.Asn426=) c.1176T>C (p.Asn392=) n.1332-409A>G c.1356T>C (p.Asn452=) c.1458T>C (p.Asn486=) c.1398T>C (p.Asn466=) n.3607-409A>G n.4043-409A>G c.1281T>C (p.Asn427=) c.1299T>C (p.Asn433=) c.1056T>C (p.Asn352=) c.1089T>C (p.Asn363=) c.1107T>C (p.Asn369=) | dbSNP gnomAD v4 |
2 | g.127428673T>G | CA348405845 | PROC | c.1113T>G (p.Asn371Lys) c.437T>G c.1215T>G (p.Asn405Lys) c.1296T>G (p.Asn432Lys) c.1278T>G (p.Asn426Lys) c.1176T>G (p.Asn392Lys) n.1332-409A>C c.1356T>G (p.Asn452Lys) c.1458T>G (p.Asn486Lys) c.1398T>G (p.Asn466Lys) n.3607-409A>C n.4043-409A>C c.1281T>G (p.Asn427Lys) c.1299T>G (p.Asn433Lys) c.1056T>G (p.Asn352Lys) c.1089T>G (p.Asn363Lys) c.1107T>G (p.Asn369Lys) | |
2 | g.127428673T= | CA1286884582 | PROC | c.1113T= (p.Asn371=) c.437T= c.1215T= (p.Asn405=) c.1296T= (p.Asn432=) c.1278T= (p.Asn426=) c.1176T= (p.Asn392=) n.1332-409A= c.1356T= (p.Asn452=) c.1458T= (p.Asn486=) c.1398T= (p.Asn466=) n.3607-409A= n.4043-409A= c.1281T= (p.Asn427=) c.1299T= (p.Asn433=) c.1056T= (p.Asn352=) c.1089T= (p.Asn363=) c.1107T= (p.Asn369=) | |
2 | g.127428674G>A | CA348405847 | PROC | c.1114G>A (p.Glu372Lys) c.438G>A c.1216G>A (p.Glu406Lys) c.1297G>A (p.Glu433Lys) c.1279G>A (p.Glu427Lys) c.1177G>A (p.Glu393Lys) n.1332-410C>T c.1357G>A (p.Glu453Lys) c.1459G>A (p.Glu487Lys) c.1399G>A (p.Glu467Lys) n.3607-410C>T n.4043-410C>T c.1282G>A (p.Glu428Lys) c.1300G>A (p.Glu434Lys) c.1057G>A (p.Glu353Lys) c.1090G>A (p.Glu364Lys) c.1108G>A (p.Glu370Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428674G>C | CA348405849 | PROC | c.1114G>C (p.Glu372Gln) c.438G>C c.1216G>C (p.Glu406Gln) c.1297G>C (p.Glu433Gln) c.1279G>C (p.Glu427Gln) c.1177G>C (p.Glu393Gln) n.1332-410C>G c.1357G>C (p.Glu453Gln) c.1459G>C (p.Glu487Gln) c.1399G>C (p.Glu467Gln) n.3607-410C>G n.4043-410C>G c.1282G>C (p.Glu428Gln) c.1300G>C (p.Glu434Gln) c.1057G>C (p.Glu353Gln) c.1090G>C (p.Glu364Gln) c.1108G>C (p.Glu370Gln) | |
2 | g.127428674G= | CA1286884583 | PROC | c.1114G= (p.Glu372=) c.438G= c.1216G= (p.Glu406=) c.1297G= (p.Glu433=) c.1279G= (p.Glu427=) c.1177G= (p.Glu393=) n.1332-410C= c.1357G= (p.Glu453=) c.1459G= (p.Glu487=) c.1399G= (p.Glu467=) n.3607-410C= n.4043-410C= c.1282G= (p.Glu428=) c.1300G= (p.Glu434=) c.1057G= (p.Glu353=) c.1090G= (p.Glu364=) c.1108G= (p.Glu370=) | |
2 | g.127428674G>T | CA348405850 | PROC | c.1114G>T (p.Glu372Ter) c.438G>T c.1216G>T (p.Glu406Ter) c.1297G>T (p.Glu433Ter) c.1279G>T (p.Glu427Ter) c.1177G>T (p.Glu393Ter) n.1332-410C>A c.1357G>T (p.Glu453Ter) c.1459G>T (p.Glu487Ter) c.1399G>T (p.Glu467Ter) n.3607-410C>A n.4043-410C>A c.1282G>T (p.Glu428Ter) c.1300G>T (p.Glu434Ter) c.1057G>T (p.Glu353Ter) c.1090G>T (p.Glu364Ter) c.1108G>T (p.Glu370Ter) | |
2 | g.127428675A= | CA1286884584 | PROC | c.1115A= (p.Glu372=) c.439A= c.1217A= (p.Glu406=) c.1298A= (p.Glu433=) c.1280A= (p.Glu427=) c.1178A= (p.Glu393=) n.1332-411T= c.1358A= (p.Glu453=) c.1460A= (p.Glu487=) c.1400A= (p.Glu467=) n.3607-411T= n.4043-411T= c.1283A= (p.Glu428=) c.1301A= (p.Glu434=) c.1058A= (p.Glu353=) c.1091A= (p.Glu364=) c.1109A= (p.Glu370=) | |
2 | g.127428675A>C | CA348405852 | PROC | c.1115A>C (p.Glu372Ala) c.439A>C c.1217A>C (p.Glu406Ala) c.1298A>C (p.Glu433Ala) c.1280A>C (p.Glu427Ala) c.1178A>C (p.Glu393Ala) n.1332-411T>G c.1358A>C (p.Glu453Ala) c.1460A>C (p.Glu487Ala) c.1400A>C (p.Glu467Ala) n.3607-411T>G n.4043-411T>G c.1283A>C (p.Glu428Ala) c.1301A>C (p.Glu434Ala) c.1058A>C (p.Glu353Ala) c.1091A>C (p.Glu364Ala) c.1109A>C (p.Glu370Ala) | gnomAD v4 |
2 | g.127428675A>G | CA55351185 | PROC | c.1115A>G (p.Glu372Gly) c.439A>G c.1217A>G (p.Glu406Gly) c.1298A>G (p.Glu433Gly) c.1280A>G (p.Glu427Gly) c.1178A>G (p.Glu393Gly) n.1332-411T>C c.1358A>G (p.Glu453Gly) c.1460A>G (p.Glu487Gly) c.1400A>G (p.Glu467Gly) n.3607-411T>C n.4043-411T>C c.1283A>G (p.Glu428Gly) c.1301A>G (p.Glu434Gly) c.1058A>G (p.Glu353Gly) c.1091A>G (p.Glu364Gly) c.1109A>G (p.Glu370Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428675A>T | CA348405854 | PROC | c.1115A>T (p.Glu372Val) c.439A>T c.1217A>T (p.Glu406Val) c.1298A>T (p.Glu433Val) c.1280A>T (p.Glu427Val) c.1178A>T (p.Glu393Val) n.1332-411T>A c.1358A>T (p.Glu453Val) c.1460A>T (p.Glu487Val) c.1400A>T (p.Glu467Val) n.3607-411T>A n.4043-411T>A c.1283A>T (p.Glu428Val) c.1301A>T (p.Glu434Val) c.1058A>T (p.Glu353Val) c.1091A>T (p.Glu364Val) c.1109A>T (p.Glu370Val) | gnomAD v4 |
2 | g.127428676G>A | CA428873134 | PROC | c.1116G>A (p.Glu372=) c.440G>A c.1218G>A (p.Glu406=) c.1299G>A (p.Glu433=) c.1281G>A (p.Glu427=) c.1179G>A (p.Glu393=) n.1332-412C>T c.1359G>A (p.Glu453=) c.1461G>A (p.Glu487=) c.1401G>A (p.Glu467=) n.3607-412C>T n.4043-412C>T c.1284G>A (p.Glu428=) c.1302G>A (p.Glu434=) c.1059G>A (p.Glu353=) c.1092G>A (p.Glu364=) c.1110G>A (p.Glu370=) | |
2 | g.127428676G>C | CA348405856 | PROC | c.1116G>C (p.Glu372Asp) c.440G>C c.1218G>C (p.Glu406Asp) c.1299G>C (p.Glu433Asp) c.1281G>C (p.Glu427Asp) c.1179G>C (p.Glu393Asp) n.1332-412C>G c.1359G>C (p.Glu453Asp) c.1461G>C (p.Glu487Asp) c.1401G>C (p.Glu467Asp) n.3607-412C>G n.4043-412C>G c.1284G>C (p.Glu428Asp) c.1302G>C (p.Glu434Asp) c.1059G>C (p.Glu353Asp) c.1092G>C (p.Glu364Asp) c.1110G>C (p.Glu370Asp) | |
2 | g.127428676G>T | CA348405858 | PROC | c.1116G>T (p.Glu372Asp) c.440G>T c.1218G>T (p.Glu406Asp) c.1299G>T (p.Glu433Asp) c.1281G>T (p.Glu427Asp) c.1179G>T (p.Glu393Asp) n.1332-412C>A c.1359G>T (p.Glu453Asp) c.1461G>T (p.Glu487Asp) c.1401G>T (p.Glu467Asp) n.3607-412C>A n.4043-412C>A c.1284G>T (p.Glu428Asp) c.1302G>T (p.Glu434Asp) c.1059G>T (p.Glu353Asp) c.1092G>T (p.Glu364Asp) c.1110G>T (p.Glu370Asp) | |
2 | g.127428677T>A | CA348405860 | PROC | c.1117T>A (p.Cys373Ser) c.441T>A c.1219T>A (p.Cys407Ser) c.1300T>A (p.Cys434Ser) c.1282T>A (p.Cys428Ser) c.1180T>A (p.Cys394Ser) n.1332-413A>T c.1360T>A (p.Cys454Ser) c.1462T>A (p.Cys488Ser) c.1402T>A (p.Cys468Ser) n.3607-413A>T n.4043-413A>T c.1285T>A (p.Cys429Ser) c.1303T>A (p.Cys435Ser) c.1060T>A (p.Cys354Ser) c.1093T>A (p.Cys365Ser) c.1111T>A (p.Cys371Ser) | ClinVar |
2 | g.127428677T>C | CA348405861 | PROC | c.1117T>C (p.Cys373Arg) c.441T>C c.1219T>C (p.Cys407Arg) c.1300T>C (p.Cys434Arg) c.1282T>C (p.Cys428Arg) c.1180T>C (p.Cys394Arg) n.1332-413A>G c.1360T>C (p.Cys454Arg) c.1462T>C (p.Cys488Arg) c.1402T>C (p.Cys468Arg) n.3607-413A>G n.4043-413A>G c.1285T>C (p.Cys429Arg) c.1303T>C (p.Cys435Arg) c.1060T>C (p.Cys354Arg) c.1093T>C (p.Cys365Arg) c.1111T>C (p.Cys371Arg) | COSMIC COSMIC |
2 | g.127428677T>G | CA348405863 | PROC | c.1117T>G (p.Cys373Gly) c.441T>G c.1219T>G (p.Cys407Gly) c.1300T>G (p.Cys434Gly) c.1282T>G (p.Cys428Gly) c.1180T>G (p.Cys394Gly) n.1332-413A>C c.1360T>G (p.Cys454Gly) c.1462T>G (p.Cys488Gly) c.1402T>G (p.Cys468Gly) n.3607-413A>C n.4043-413A>C c.1285T>G (p.Cys429Gly) c.1303T>G (p.Cys435Gly) c.1060T>G (p.Cys354Gly) c.1093T>G (p.Cys365Gly) c.1111T>G (p.Cys371Gly) | |
2 | g.127428678G>A | CA348405866 | PROC | c.1118G>A (p.Cys373Tyr) c.442G>A c.1220G>A (p.Cys407Tyr) c.1301G>A (p.Cys434Tyr) c.1283G>A (p.Cys428Tyr) c.1181G>A (p.Cys394Tyr) n.1332-414C>T c.1361G>A (p.Cys454Tyr) c.1463G>A (p.Cys488Tyr) c.1403G>A (p.Cys468Tyr) n.3607-414C>T n.4043-414C>T c.1286G>A (p.Cys429Tyr) c.1304G>A (p.Cys435Tyr) c.1061G>A (p.Cys354Tyr) c.1094G>A (p.Cys365Tyr) c.1112G>A (p.Cys371Tyr) | |
2 | g.127428678G>C | CA348405867 | PROC | c.1118G>C (p.Cys373Ser) c.442G>C c.1220G>C (p.Cys407Ser) c.1301G>C (p.Cys434Ser) c.1283G>C (p.Cys428Ser) c.1181G>C (p.Cys394Ser) n.1332-414C>G c.1361G>C (p.Cys454Ser) c.1463G>C (p.Cys488Ser) c.1403G>C (p.Cys468Ser) n.3607-414C>G n.4043-414C>G c.1286G>C (p.Cys429Ser) c.1304G>C (p.Cys435Ser) c.1061G>C (p.Cys354Ser) c.1094G>C (p.Cys365Ser) c.1112G>C (p.Cys371Ser) | |
2 | g.127428678G>T | CA348405869 | PROC | c.1118G>T (p.Cys373Phe) c.442G>T c.1220G>T (p.Cys407Phe) c.1301G>T (p.Cys434Phe) c.1283G>T (p.Cys428Phe) c.1181G>T (p.Cys394Phe) n.1332-414C>A c.1361G>T (p.Cys454Phe) c.1463G>T (p.Cys488Phe) c.1403G>T (p.Cys468Phe) n.3607-414C>A n.4043-414C>A c.1286G>T (p.Cys429Phe) c.1304G>T (p.Cys435Phe) c.1061G>T (p.Cys354Phe) c.1094G>T (p.Cys365Phe) c.1112G>T (p.Cys371Phe) | |
2 | g.127428679C>A | CA348405872 | PROC | c.1119C>A (p.Cys373Ter) c.443C>A c.1221C>A (p.Cys407Ter) c.1302C>A (p.Cys434Ter) c.1284C>A (p.Cys428Ter) c.1182C>A (p.Cys394Ter) n.1332-415G>T c.1362C>A (p.Cys454Ter) c.1464C>A (p.Cys488Ter) c.1404C>A (p.Cys468Ter) n.3607-415G>T n.4043-415G>T c.1287C>A (p.Cys429Ter) c.1305C>A (p.Cys435Ter) c.1062C>A (p.Cys354Ter) c.1095C>A (p.Cys365Ter) c.1113C>A (p.Cys371Ter) | |
2 | g.127428679C>G | CA348405873 | PROC | c.1119C>G (p.Cys373Trp) c.443C>G c.1221C>G (p.Cys407Trp) c.1302C>G (p.Cys434Trp) c.1284C>G (p.Cys428Trp) c.1182C>G (p.Cys394Trp) n.1332-415G>C c.1362C>G (p.Cys454Trp) c.1464C>G (p.Cys488Trp) c.1404C>G (p.Cys468Trp) n.3607-415G>C n.4043-415G>C c.1287C>G (p.Cys429Trp) c.1305C>G (p.Cys435Trp) c.1062C>G (p.Cys354Trp) c.1095C>G (p.Cys365Trp) c.1113C>G (p.Cys371Trp) | |
2 | g.127428679C>T | CA428873164 | PROC | c.1119C>T (p.Cys373=) c.443C>T c.1221C>T (p.Cys407=) c.1302C>T (p.Cys434=) c.1284C>T (p.Cys428=) c.1182C>T (p.Cys394=) n.1332-415G>A c.1362C>T (p.Cys454=) c.1464C>T (p.Cys488=) c.1404C>T (p.Cys468=) n.3607-415G>A n.4043-415G>A c.1287C>T (p.Cys429=) c.1305C>T (p.Cys435=) c.1062C>T (p.Cys354=) c.1095C>T (p.Cys365=) c.1113C>T (p.Cys371=) | gnomAD v4 |
2 | g.127428680A= | CA1286884585 | PROC | c.1120A= (p.Ser374=) c.444A= c.1222A= (p.Ser408=) c.1303A= (p.Ser435=) c.1285A= (p.Ser429=) c.1183A= (p.Ser395=) n.1332-416T= c.1363A= (p.Ser455=) c.1465A= (p.Ser489=) c.1405A= (p.Ser469=) n.3607-416T= n.4043-416T= c.1288A= (p.Ser430=) c.1306A= (p.Ser436=) c.1063A= (p.Ser355=) c.1096A= (p.Ser366=) c.1114A= (p.Ser372=) | |
2 | g.127428680A>C | CA348405876 | PROC | c.1120A>C (p.Ser374Arg) c.444A>C c.1222A>C (p.Ser408Arg) c.1303A>C (p.Ser435Arg) c.1285A>C (p.Ser429Arg) c.1183A>C (p.Ser395Arg) n.1332-416T>G c.1363A>C (p.Ser455Arg) c.1465A>C (p.Ser489Arg) c.1405A>C (p.Ser469Arg) n.3607-416T>G n.4043-416T>G c.1288A>C (p.Ser430Arg) c.1306A>C (p.Ser436Arg) c.1063A>C (p.Ser355Arg) c.1096A>C (p.Ser366Arg) c.1114A>C (p.Ser372Arg) | |
2 | g.127428680A>G | CA55351197 | PROC | c.1120A>G (p.Ser374Gly) c.444A>G c.1222A>G (p.Ser408Gly) c.1303A>G (p.Ser435Gly) c.1285A>G (p.Ser429Gly) c.1183A>G (p.Ser395Gly) n.1332-416T>C c.1363A>G (p.Ser455Gly) c.1465A>G (p.Ser489Gly) c.1405A>G (p.Ser469Gly) n.3607-416T>C n.4043-416T>C c.1288A>G (p.Ser430Gly) c.1306A>G (p.Ser436Gly) c.1063A>G (p.Ser355Gly) c.1096A>G (p.Ser366Gly) c.1114A>G (p.Ser372Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428680A>T | CA1859528 | PROC | c.1120A>T (p.Ser374Cys) c.444A>T c.1222A>T (p.Ser408Cys) c.1303A>T (p.Ser435Cys) c.1285A>T (p.Ser429Cys) c.1183A>T (p.Ser395Cys) n.1332-416T>A c.1363A>T (p.Ser455Cys) c.1465A>T (p.Ser489Cys) c.1405A>T (p.Ser469Cys) n.3607-416T>A n.4043-416T>A c.1288A>T (p.Ser430Cys) c.1306A>T (p.Ser436Cys) c.1063A>T (p.Ser355Cys) c.1096A>T (p.Ser366Cys) c.1114A>T (p.Ser372Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428681G>A | CA1859529 | PROC | c.1121G>A (p.Ser374Asn) c.445G>A c.1223G>A (p.Ser408Asn) c.1304G>A (p.Ser435Asn) c.1286G>A (p.Ser429Asn) c.1184G>A (p.Ser395Asn) n.1332-417C>T c.1364G>A (p.Ser455Asn) c.1466G>A (p.Ser489Asn) c.1406G>A (p.Ser469Asn) n.3607-417C>T n.4043-417C>T c.1289G>A (p.Ser430Asn) c.1307G>A (p.Ser436Asn) c.1064G>A (p.Ser355Asn) c.1097G>A (p.Ser366Asn) c.1115G>A (p.Ser372Asn) | dbSNP ExAC |
2 | g.127428681G>C | CA348405877 | PROC | c.1121G>C (p.Ser374Thr) c.445G>C c.1223G>C (p.Ser408Thr) c.1304G>C (p.Ser435Thr) c.1286G>C (p.Ser429Thr) c.1184G>C (p.Ser395Thr) n.1332-417C>G c.1364G>C (p.Ser455Thr) c.1466G>C (p.Ser489Thr) c.1406G>C (p.Ser469Thr) n.3607-417C>G n.4043-417C>G c.1289G>C (p.Ser430Thr) c.1307G>C (p.Ser436Thr) c.1064G>C (p.Ser355Thr) c.1097G>C (p.Ser366Thr) c.1115G>C (p.Ser372Thr) | |
2 | g.127428681G= | CA1286884586 | PROC | c.1121G= (p.Ser374=) c.445G= c.1223G= (p.Ser408=) c.1304G= (p.Ser435=) c.1286G= (p.Ser429=) c.1184G= (p.Ser395=) n.1332-417C= c.1364G= (p.Ser455=) c.1466G= (p.Ser489=) c.1406G= (p.Ser469=) n.3607-417C= n.4043-417C= c.1289G= (p.Ser430=) c.1307G= (p.Ser436=) c.1064G= (p.Ser355=) c.1097G= (p.Ser366=) c.1115G= (p.Ser372=) | |
2 | g.127428681G>T | CA348405879 | PROC | c.1121G>T (p.Ser374Ile) c.445G>T c.1223G>T (p.Ser408Ile) c.1304G>T (p.Ser435Ile) c.1286G>T (p.Ser429Ile) c.1184G>T (p.Ser395Ile) n.1332-417C>A c.1364G>T (p.Ser455Ile) c.1466G>T (p.Ser489Ile) c.1406G>T (p.Ser469Ile) n.3607-417C>A n.4043-417C>A c.1289G>T (p.Ser430Ile) c.1307G>T (p.Ser436Ile) c.1064G>T (p.Ser355Ile) c.1097G>T (p.Ser366Ile) c.1115G>T (p.Ser372Ile) | |
2 | g.127428682C>A | CA348405881 | PROC | c.1122C>A (p.Ser374Arg) c.446C>A c.1224C>A (p.Ser408Arg) c.1305C>A (p.Ser435Arg) c.1287C>A (p.Ser429Arg) c.1185C>A (p.Ser395Arg) n.1332-418G>T c.1365C>A (p.Ser455Arg) c.1467C>A (p.Ser489Arg) c.1407C>A (p.Ser469Arg) n.3607-418G>T n.4043-418G>T c.1290C>A (p.Ser430Arg) c.1308C>A (p.Ser436Arg) c.1065C>A (p.Ser355Arg) c.1098C>A (p.Ser366Arg) c.1116C>A (p.Ser372Arg) | |
2 | g.127428682C= | CA1286884587 | PROC | c.1122C= (p.Ser374=) c.446C= c.1224C= (p.Ser408=) c.1305C= (p.Ser435=) c.1287C= (p.Ser429=) c.1185C= (p.Ser395=) n.1332-418G= c.1365C= (p.Ser455=) c.1467C= (p.Ser489=) c.1407C= (p.Ser469=) n.3607-418G= n.4043-418G= c.1290C= (p.Ser430=) c.1308C= (p.Ser436=) c.1065C= (p.Ser355=) c.1098C= (p.Ser366=) c.1116C= (p.Ser372=) | |
2 | g.127428682C>G | CA348405882 | PROC | c.1122C>G (p.Ser374Arg) c.446C>G c.1224C>G (p.Ser408Arg) c.1305C>G (p.Ser435Arg) c.1287C>G (p.Ser429Arg) c.1185C>G (p.Ser395Arg) n.1332-418G>C c.1365C>G (p.Ser455Arg) c.1467C>G (p.Ser489Arg) c.1407C>G (p.Ser469Arg) n.3607-418G>C n.4043-418G>C c.1290C>G (p.Ser430Arg) c.1308C>G (p.Ser436Arg) c.1065C>G (p.Ser355Arg) c.1098C>G (p.Ser366Arg) c.1116C>G (p.Ser372Arg) | |
2 | g.127428682C>T | CA1859530 | PROC | c.1122C>T (p.Ser374=) c.446C>T c.1224C>T (p.Ser408=) c.1305C>T (p.Ser435=) c.1287C>T (p.Ser429=) c.1185C>T (p.Ser395=) n.1332-418G>A c.1365C>T (p.Ser455=) c.1467C>T (p.Ser489=) c.1407C>T (p.Ser469=) n.3607-418G>A n.4043-418G>A c.1290C>T (p.Ser430=) c.1308C>T (p.Ser436=) c.1065C>T (p.Ser355=) c.1098C>T (p.Ser366=) c.1116C>T (p.Ser372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428683G>A | CA1859531 | PROC | c.1123G>A (p.Glu375Lys) c.447G>A c.1225G>A (p.Glu409Lys) c.1306G>A (p.Glu436Lys) c.1288G>A (p.Glu430Lys) c.1186G>A (p.Glu396Lys) n.1332-419C>T c.1366G>A (p.Glu456Lys) c.1468G>A (p.Glu490Lys) c.1408G>A (p.Glu470Lys) n.3607-419C>T n.4043-419C>T c.1291G>A (p.Glu431Lys) c.1309G>A (p.Glu437Lys) c.1066G>A (p.Glu356Lys) c.1099G>A (p.Glu367Lys) c.1117G>A (p.Glu373Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428683G>C | CA348405885 | PROC | c.1123G>C (p.Glu375Gln) c.447G>C c.1225G>C (p.Glu409Gln) c.1306G>C (p.Glu436Gln) c.1288G>C (p.Glu430Gln) c.1186G>C (p.Glu396Gln) n.1332-419C>G c.1366G>C (p.Glu456Gln) c.1468G>C (p.Glu490Gln) c.1408G>C (p.Glu470Gln) n.3607-419C>G n.4043-419C>G c.1291G>C (p.Glu431Gln) c.1309G>C (p.Glu437Gln) c.1066G>C (p.Glu356Gln) c.1099G>C (p.Glu367Gln) c.1117G>C (p.Glu373Gln) | dbSNP gnomAD v4 |
2 | g.127428683G= | CA1286884588 | PROC | c.1123G= (p.Glu375=) c.447G= c.1225G= (p.Glu409=) c.1306G= (p.Glu436=) c.1288G= (p.Glu430=) c.1186G= (p.Glu396=) n.1332-419C= c.1366G= (p.Glu456=) c.1468G= (p.Glu490=) c.1408G= (p.Glu470=) n.3607-419C= n.4043-419C= c.1291G= (p.Glu431=) c.1309G= (p.Glu437=) c.1066G= (p.Glu356=) c.1099G= (p.Glu367=) c.1117G= (p.Glu373=) | |
2 | g.127428683G>T | CA348405886 | PROC | c.1123G>T (p.Glu375Ter) c.447G>T c.1225G>T (p.Glu409Ter) c.1306G>T (p.Glu436Ter) c.1288G>T (p.Glu430Ter) c.1186G>T (p.Glu396Ter) n.1332-419C>A c.1366G>T (p.Glu456Ter) c.1468G>T (p.Glu490Ter) c.1408G>T (p.Glu470Ter) n.3607-419C>A n.4043-419C>A c.1291G>T (p.Glu431Ter) c.1309G>T (p.Glu437Ter) c.1066G>T (p.Glu356Ter) c.1099G>T (p.Glu367Ter) c.1117G>T (p.Glu373Ter) | |
2 | g.127428684A>C | CA348405890 | PROC | c.1124A>C (p.Glu375Ala) c.448A>C c.1226A>C (p.Glu409Ala) c.1307A>C (p.Glu436Ala) c.1289A>C (p.Glu430Ala) c.1187A>C (p.Glu396Ala) n.1332-420T>G c.1367A>C (p.Glu456Ala) c.1469A>C (p.Glu490Ala) c.1409A>C (p.Glu470Ala) n.3607-420T>G n.4043-420T>G c.1292A>C (p.Glu431Ala) c.1310A>C (p.Glu437Ala) c.1067A>C (p.Glu356Ala) c.1100A>C (p.Glu367Ala) c.1118A>C (p.Glu373Ala) | |
2 | g.127428684A>G | CA348405891 | PROC | c.1124A>G (p.Glu375Gly) c.448A>G c.1226A>G (p.Glu409Gly) c.1307A>G (p.Glu436Gly) c.1289A>G (p.Glu430Gly) c.1187A>G (p.Glu396Gly) n.1332-420T>C c.1367A>G (p.Glu456Gly) c.1469A>G (p.Glu490Gly) c.1409A>G (p.Glu470Gly) n.3607-420T>C n.4043-420T>C c.1292A>G (p.Glu431Gly) c.1310A>G (p.Glu437Gly) c.1067A>G (p.Glu356Gly) c.1100A>G (p.Glu367Gly) c.1118A>G (p.Glu373Gly) | |
2 | g.127428684A>T | CA348405893 | PROC | c.1124A>T (p.Glu375Val) c.448A>T c.1226A>T (p.Glu409Val) c.1307A>T (p.Glu436Val) c.1289A>T (p.Glu430Val) c.1187A>T (p.Glu396Val) n.1332-420T>A c.1367A>T (p.Glu456Val) c.1469A>T (p.Glu490Val) c.1409A>T (p.Glu470Val) n.3607-420T>A n.4043-420T>A c.1292A>T (p.Glu431Val) c.1310A>T (p.Glu437Val) c.1067A>T (p.Glu356Val) c.1100A>T (p.Glu367Val) c.1118A>T (p.Glu373Val) | |
2 | g.127428685G>A | CA428873195 | PROC | c.1125G>A (p.Glu375=) c.449G>A c.1227G>A (p.Glu409=) c.1308G>A (p.Glu436=) c.1290G>A (p.Glu430=) c.1188G>A (p.Glu396=) n.1332-421C>T c.1368G>A (p.Glu456=) c.1470G>A (p.Glu490=) c.1410G>A (p.Glu470=) n.3607-421C>T n.4043-421C>T c.1293G>A (p.Glu431=) c.1311G>A (p.Glu437=) c.1068G>A (p.Glu356=) c.1101G>A (p.Glu367=) c.1119G>A (p.Glu373=) | |
2 | g.127428685G>C | CA348405895 | PROC | c.1125G>C (p.Glu375Asp) c.449G>C c.1227G>C (p.Glu409Asp) c.1308G>C (p.Glu436Asp) c.1290G>C (p.Glu430Asp) c.1188G>C (p.Glu396Asp) n.1332-421C>G c.1368G>C (p.Glu456Asp) c.1470G>C (p.Glu490Asp) c.1410G>C (p.Glu470Asp) n.3607-421C>G n.4043-421C>G c.1293G>C (p.Glu431Asp) c.1311G>C (p.Glu437Asp) c.1068G>C (p.Glu356Asp) c.1101G>C (p.Glu367Asp) c.1119G>C (p.Glu373Asp) | gnomAD v4 |
2 | g.127428685G>T | CA348405897 | PROC | c.1125G>T (p.Glu375Asp) c.449G>T c.1227G>T (p.Glu409Asp) c.1308G>T (p.Glu436Asp) c.1290G>T (p.Glu430Asp) c.1188G>T (p.Glu396Asp) n.1332-421C>A c.1368G>T (p.Glu456Asp) c.1470G>T (p.Glu490Asp) c.1410G>T (p.Glu470Asp) n.3607-421C>A n.4043-421C>A c.1293G>T (p.Glu431Asp) c.1311G>T (p.Glu437Asp) c.1068G>T (p.Glu356Asp) c.1101G>T (p.Glu367Asp) c.1119G>T (p.Glu373Asp) | |
2 | g.127428686G>A | CA348405899 | PROC | c.1126G>A (p.Val376Ile) c.450G>A c.1228G>A (p.Val410Ile) c.1309G>A (p.Val437Ile) c.1291G>A (p.Val431Ile) c.1189G>A (p.Val397Ile) n.1332-422C>T c.1369G>A (p.Val457Ile) c.1471G>A (p.Val491Ile) c.1411G>A (p.Val471Ile) n.3607-422C>T n.4043-422C>T c.1294G>A (p.Val432Ile) c.1312G>A (p.Val438Ile) c.1069G>A (p.Val357Ile) c.1102G>A (p.Val368Ile) c.1120G>A (p.Val374Ile) | gnomAD v4 |
2 | g.127428686G>C | CA348405903 | PROC | c.1126G>C (p.Val376Leu) c.450G>C c.1228G>C (p.Val410Leu) c.1309G>C (p.Val437Leu) c.1291G>C (p.Val431Leu) c.1189G>C (p.Val397Leu) n.1332-422C>G c.1369G>C (p.Val457Leu) c.1471G>C (p.Val491Leu) c.1411G>C (p.Val471Leu) n.3607-422C>G n.4043-422C>G c.1294G>C (p.Val432Leu) c.1312G>C (p.Val438Leu) c.1069G>C (p.Val357Leu) c.1102G>C (p.Val368Leu) c.1120G>C (p.Val374Leu) | |
2 | g.127428686G>T | CA348405901 | PROC | c.1126G>T (p.Val376Phe) c.450G>T c.1228G>T (p.Val410Phe) c.1309G>T (p.Val437Phe) c.1291G>T (p.Val431Phe) c.1189G>T (p.Val397Phe) n.1332-422C>A c.1369G>T (p.Val457Phe) c.1471G>T (p.Val491Phe) c.1411G>T (p.Val471Phe) n.3607-422C>A n.4043-422C>A c.1294G>T (p.Val432Phe) c.1312G>T (p.Val438Phe) c.1069G>T (p.Val357Phe) c.1102G>T (p.Val368Phe) c.1120G>T (p.Val374Phe) | |
2 | g.127428687T>A | CA348405905 | PROC | c.1127T>A (p.Val376Asp) c.451T>A c.1229T>A (p.Val410Asp) c.1310T>A (p.Val437Asp) c.1292T>A (p.Val431Asp) c.1190T>A (p.Val397Asp) n.1332-423A>T c.1370T>A (p.Val457Asp) c.1472T>A (p.Val491Asp) c.1412T>A (p.Val471Asp) n.3607-423A>T n.4043-423A>T c.1295T>A (p.Val432Asp) c.1313T>A (p.Val438Asp) c.1070T>A (p.Val357Asp) c.1103T>A (p.Val368Asp) c.1121T>A (p.Val374Asp) | |
2 | g.127428687T>C | CA348405906 | PROC | c.1127T>C (p.Val376Ala) c.451T>C c.1229T>C (p.Val410Ala) c.1310T>C (p.Val437Ala) c.1292T>C (p.Val431Ala) c.1190T>C (p.Val397Ala) n.1332-423A>G c.1370T>C (p.Val457Ala) c.1472T>C (p.Val491Ala) c.1412T>C (p.Val471Ala) n.3607-423A>G n.4043-423A>G c.1295T>C (p.Val432Ala) c.1313T>C (p.Val438Ala) c.1070T>C (p.Val357Ala) c.1103T>C (p.Val368Ala) c.1121T>C (p.Val374Ala) | |
2 | g.127428687T>G | CA348405908 | PROC | c.1127T>G (p.Val376Gly) c.451T>G c.1229T>G (p.Val410Gly) c.1310T>G (p.Val437Gly) c.1292T>G (p.Val431Gly) c.1190T>G (p.Val397Gly) n.1332-423A>C c.1370T>G (p.Val457Gly) c.1472T>G (p.Val491Gly) c.1412T>G (p.Val471Gly) n.3607-423A>C n.4043-423A>C c.1295T>G (p.Val432Gly) c.1313T>G (p.Val438Gly) c.1070T>G (p.Val357Gly) c.1103T>G (p.Val368Gly) c.1121T>G (p.Val374Gly) | |
2 | g.127428688C>A | CA428873196 | PROC | c.1128C>A (p.Val376=) c.452C>A c.1230C>A (p.Val410=) c.1311C>A (p.Val437=) c.1293C>A (p.Val431=) c.1191C>A (p.Val397=) n.1332-424G>T c.1371C>A (p.Val457=) c.1473C>A (p.Val491=) c.1413C>A (p.Val471=) n.3607-424G>T n.4043-424G>T c.1296C>A (p.Val432=) c.1314C>A (p.Val438=) c.1071C>A (p.Val357=) c.1104C>A (p.Val368=) c.1122C>A (p.Val374=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428688C= | CA1286884589 | PROC | c.1128C= (p.Val376=) c.452C= c.1230C= (p.Val410=) c.1311C= (p.Val437=) c.1293C= (p.Val431=) c.1191C= (p.Val397=) n.1332-424G= c.1371C= (p.Val457=) c.1473C= (p.Val491=) c.1413C= (p.Val471=) n.3607-424G= n.4043-424G= c.1296C= (p.Val432=) c.1314C= (p.Val438=) c.1071C= (p.Val357=) c.1104C= (p.Val368=) c.1122C= (p.Val374=) | |
2 | g.127428688C>G | CA428873198 | PROC | c.1128C>G (p.Val376=) c.452C>G c.1230C>G (p.Val410=) c.1311C>G (p.Val437=) c.1293C>G (p.Val431=) c.1191C>G (p.Val397=) n.1332-424G>C c.1371C>G (p.Val457=) c.1473C>G (p.Val491=) c.1413C>G (p.Val471=) n.3607-424G>C n.4043-424G>C c.1296C>G (p.Val432=) c.1314C>G (p.Val438=) c.1071C>G (p.Val357=) c.1104C>G (p.Val368=) c.1122C>G (p.Val374=) | |
2 | g.127428688C>T | CA428873200 | PROC | c.1128C>T (p.Val376=) c.452C>T c.1230C>T (p.Val410=) c.1311C>T (p.Val437=) c.1293C>T (p.Val431=) c.1191C>T (p.Val397=) n.1332-424G>A c.1371C>T (p.Val457=) c.1473C>T (p.Val491=) c.1413C>T (p.Val471=) n.3607-424G>A n.4043-424G>A c.1296C>T (p.Val432=) c.1314C>T (p.Val438=) c.1071C>T (p.Val357=) c.1104C>T (p.Val368=) c.1122C>T (p.Val374=) | |
2 | g.127428689A= | CA1286884591 | PROC | c.1129A= (p.Met377=) c.453A= c.1231A= (p.Met411=) c.1312A= (p.Met438=) c.1294A= (p.Met432=) c.1192A= (p.Met398=) n.1332-425T= c.1372A= (p.Met458=) c.1474A= (p.Met492=) c.1414A= (p.Met472=) n.3607-425T= n.4043-425T= c.1297A= (p.Met433=) c.1315A= (p.Met439=) c.1072A= (p.Met358=) c.1105A= (p.Met369=) c.1123A= (p.Met375=) | |
2 | g.127428689A>C | CA348405910 | PROC | c.1129A>C (p.Met377Leu) c.453A>C c.1231A>C (p.Met411Leu) c.1312A>C (p.Met438Leu) c.1294A>C (p.Met432Leu) c.1192A>C (p.Met398Leu) n.1332-425T>G c.1372A>C (p.Met458Leu) c.1474A>C (p.Met492Leu) c.1414A>C (p.Met472Leu) n.3607-425T>G n.4043-425T>G c.1297A>C (p.Met433Leu) c.1315A>C (p.Met439Leu) c.1072A>C (p.Met358Leu) c.1105A>C (p.Met369Leu) c.1123A>C (p.Met375Leu) | |
2 | g.127428689A>G | CA348405912 | PROC | c.1129A>G (p.Met377Val) c.453A>G c.1231A>G (p.Met411Val) c.1312A>G (p.Met438Val) c.1294A>G (p.Met432Val) c.1192A>G (p.Met398Val) n.1332-425T>C c.1372A>G (p.Met458Val) c.1474A>G (p.Met492Val) c.1414A>G (p.Met472Val) n.3607-425T>C n.4043-425T>C c.1297A>G (p.Met433Val) c.1315A>G (p.Met439Val) c.1072A>G (p.Met358Val) c.1105A>G (p.Met369Val) c.1123A>G (p.Met375Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428689A>T | CA348405913 | PROC | c.1129A>T (p.Met377Leu) c.453A>T c.1231A>T (p.Met411Leu) c.1312A>T (p.Met438Leu) c.1294A>T (p.Met432Leu) c.1192A>T (p.Met398Leu) n.1332-425T>A c.1372A>T (p.Met458Leu) c.1474A>T (p.Met492Leu) c.1414A>T (p.Met472Leu) n.3607-425T>A n.4043-425T>A c.1297A>T (p.Met433Leu) c.1315A>T (p.Met439Leu) c.1072A>T (p.Met358Leu) c.1105A>T (p.Met369Leu) c.1123A>T (p.Met375Leu) | |
2 | g.127428689_127428705delinsATGAGCAACATGGTGTC | CA1286884590 | PROC | c.1129_1145delinsATGAGCAACATGGTGTC (p.Met377=) c.453_469delinsATGAGCAACATGGTGTC c.1231_1247delinsATGAGCAACATGGTGTC (p.Met411=) c.1312_1328delinsATGAGCAACATGGTGTC (p.Met438=) c.1294_1310delinsATGAGCAACATGGTGTC (p.Met432=) c.1192_1208delinsATGAGCAACATGGTGTC (p.Met398=) n.1332-441_1332-425delinsGACACCATGTTGCTCAT c.1372_1388delinsATGAGCAACATGGTGTC (p.Met458=) c.1474_1490delinsATGAGCAACATGGTGTC (p.Met492=) c.1414_1430delinsATGAGCAACATGGTGTC (p.Met472=) n.3607-441_3607-425delinsGACACCATGTTGCTCAT n.4043-441_4043-425delinsGACACCATGTTGCTCAT c.1297_1313delinsATGAGCAACATGGTGTC (p.Met433=) c.1315_1331delinsATGAGCAACATGGTGTC (p.Met439=) c.1072_1088delinsATGAGCAACATGGTGTC (p.Met358=) c.1105_1121delinsATGAGCAACATGGTGTC (p.Met369=) c.1123_1139delinsATGAGCAACATGGTGTC (p.Met375=) | |
2 | g.127428690T>A | CA348405916 | PROC | c.1130T>A (p.Met377Lys) c.454T>A c.1232T>A (p.Met411Lys) c.1313T>A (p.Met438Lys) c.1295T>A (p.Met432Lys) c.1193T>A (p.Met398Lys) n.1332-426A>T c.1373T>A (p.Met458Lys) c.1475T>A (p.Met492Lys) c.1415T>A (p.Met472Lys) n.3607-426A>T n.4043-426A>T c.1298T>A (p.Met433Lys) c.1316T>A (p.Met439Lys) c.1073T>A (p.Met358Lys) c.1106T>A (p.Met369Lys) c.1124T>A (p.Met375Lys) | |
2 | g.127428690T>C | CA348405917 | PROC | c.1130T>C (p.Met377Thr) c.454T>C c.1232T>C (p.Met411Thr) c.1313T>C (p.Met438Thr) c.1295T>C (p.Met432Thr) c.1193T>C (p.Met398Thr) n.1332-426A>G c.1373T>C (p.Met458Thr) c.1475T>C (p.Met492Thr) c.1415T>C (p.Met472Thr) n.3607-426A>G n.4043-426A>G c.1298T>C (p.Met433Thr) c.1316T>C (p.Met439Thr) c.1073T>C (p.Met358Thr) c.1106T>C (p.Met369Thr) c.1124T>C (p.Met375Thr) | |
2 | g.127428690T>G | CA348405918 | PROC | c.1130T>G (p.Met377Arg) c.454T>G c.1232T>G (p.Met411Arg) c.1313T>G (p.Met438Arg) c.1295T>G (p.Met432Arg) c.1193T>G (p.Met398Arg) n.1332-426A>C c.1373T>G (p.Met458Arg) c.1475T>G (p.Met492Arg) c.1415T>G (p.Met472Arg) n.3607-426A>C n.4043-426A>C c.1298T>G (p.Met433Arg) c.1316T>G (p.Met439Arg) c.1073T>G (p.Met358Arg) c.1106T>G (p.Met369Arg) c.1124T>G (p.Met375Arg) | gnomAD v4 |
2 | g.127428694_127428709del | CA348405920 | PROC | c.1134_1149del (p.Ser378ArgfsTer?) c.458_473del c.1236_1251del (p.Ser412ArgfsTer?) c.1317_1332del (p.Ser439ArgfsTer?) c.1299_1314del (p.Ser433ArgfsTer?) c.1197_1212del (p.Ser399ArgfsTer?) n.1332-441_1332-426del c.1377_1392del (p.Ser459ArgfsTer?) c.1479_1494del (p.Ser493ArgfsTer?) c.1419_1434del (p.Ser473ArgfsTer?) n.3607-441_3607-426del n.4043-441_4043-426del c.1302_1317del (p.Ser434ArgfsTer?) c.1320_1335del (p.Ser440ArgfsTer?) c.1077_1092del (p.Ser359ArgfsTer?) c.1110_1125del (p.Ser370ArgfsTer?) c.1128_1143del (p.Ser376ArgfsTer?) | dbSNP |
2 | g.127428691G>A | CA1859532 | PROC | c.1131G>A (p.Met377Ile) c.455G>A c.1233G>A (p.Met411Ile) c.1314G>A (p.Met438Ile) c.1296G>A (p.Met432Ile) c.1194G>A (p.Met398Ile) n.1332-427C>T c.1374G>A (p.Met458Ile) c.1476G>A (p.Met492Ile) c.1416G>A (p.Met472Ile) n.3607-427C>T n.4043-427C>T c.1299G>A (p.Met433Ile) c.1317G>A (p.Met439Ile) c.1074G>A (p.Met358Ile) c.1107G>A (p.Met369Ile) c.1125G>A (p.Met375Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428691G>C | CA348405923 | PROC | c.1131G>C (p.Met377Ile) c.455G>C c.1233G>C (p.Met411Ile) c.1314G>C (p.Met438Ile) c.1296G>C (p.Met432Ile) c.1194G>C (p.Met398Ile) n.1332-427C>G c.1374G>C (p.Met458Ile) c.1476G>C (p.Met492Ile) c.1416G>C (p.Met472Ile) n.3607-427C>G n.4043-427C>G c.1299G>C (p.Met433Ile) c.1317G>C (p.Met439Ile) c.1074G>C (p.Met358Ile) c.1107G>C (p.Met369Ile) c.1125G>C (p.Met375Ile) | dbSNP gnomAD v4 |
2 | g.127428691G= | CA1286884592 | PROC | c.1131G= (p.Met377=) c.455G= c.1233G= (p.Met411=) c.1314G= (p.Met438=) c.1296G= (p.Met432=) c.1194G= (p.Met398=) n.1332-427C= c.1374G= (p.Met458=) c.1476G= (p.Met492=) c.1416G= (p.Met472=) n.3607-427C= n.4043-427C= c.1299G= (p.Met433=) c.1317G= (p.Met439=) c.1074G= (p.Met358=) c.1107G= (p.Met369=) c.1125G= (p.Met375=) | |
2 | g.127428691G>T | CA348405924 | PROC | c.1131G>T (p.Met377Ile) c.455G>T c.1233G>T (p.Met411Ile) c.1314G>T (p.Met438Ile) c.1296G>T (p.Met432Ile) c.1194G>T (p.Met398Ile) n.1332-427C>A c.1374G>T (p.Met458Ile) c.1476G>T (p.Met492Ile) c.1416G>T (p.Met472Ile) n.3607-427C>A n.4043-427C>A c.1299G>T (p.Met433Ile) c.1317G>T (p.Met439Ile) c.1074G>T (p.Met358Ile) c.1107G>T (p.Met369Ile) c.1125G>T (p.Met375Ile) | |
2 | g.127428692A= | CA1286884593 | PROC | c.1132A= (p.Ser378=) c.456A= c.1234A= (p.Ser412=) c.1315A= (p.Ser439=) c.1297A= (p.Ser433=) c.1195A= (p.Ser399=) n.1332-428T= c.1375A= (p.Ser459=) c.1477A= (p.Ser493=) c.1417A= (p.Ser473=) n.3607-428T= n.4043-428T= c.1300A= (p.Ser434=) c.1318A= (p.Ser440=) c.1075A= (p.Ser359=) c.1108A= (p.Ser370=) c.1126A= (p.Ser376=) | |
2 | g.127428692A>C | CA348405928 | PROC | c.1132A>C (p.Ser378Arg) c.456A>C c.1234A>C (p.Ser412Arg) c.1315A>C (p.Ser439Arg) c.1297A>C (p.Ser433Arg) c.1195A>C (p.Ser399Arg) n.1332-428T>G c.1375A>C (p.Ser459Arg) c.1477A>C (p.Ser493Arg) c.1417A>C (p.Ser473Arg) n.3607-428T>G n.4043-428T>G c.1300A>C (p.Ser434Arg) c.1318A>C (p.Ser440Arg) c.1075A>C (p.Ser359Arg) c.1108A>C (p.Ser370Arg) c.1126A>C (p.Ser376Arg) | |
2 | g.127428692A>G | CA348405930 | PROC | c.1132A>G (p.Ser378Gly) c.456A>G c.1234A>G (p.Ser412Gly) c.1315A>G (p.Ser439Gly) c.1297A>G (p.Ser433Gly) c.1195A>G (p.Ser399Gly) n.1332-428T>C c.1375A>G (p.Ser459Gly) c.1477A>G (p.Ser493Gly) c.1417A>G (p.Ser473Gly) n.3607-428T>C n.4043-428T>C c.1300A>G (p.Ser434Gly) c.1318A>G (p.Ser440Gly) c.1075A>G (p.Ser359Gly) c.1108A>G (p.Ser370Gly) c.1126A>G (p.Ser376Gly) | dbSNP |
2 | g.127428692A>T | CA348405926 | PROC | c.1132A>T (p.Ser378Cys) c.456A>T c.1234A>T (p.Ser412Cys) c.1315A>T (p.Ser439Cys) c.1297A>T (p.Ser433Cys) c.1195A>T (p.Ser399Cys) n.1332-428T>A c.1375A>T (p.Ser459Cys) c.1477A>T (p.Ser493Cys) c.1417A>T (p.Ser473Cys) n.3607-428T>A n.4043-428T>A c.1300A>T (p.Ser434Cys) c.1318A>T (p.Ser440Cys) c.1075A>T (p.Ser359Cys) c.1108A>T (p.Ser370Cys) c.1126A>T (p.Ser376Cys) | |
2 | g.127428693G>A | CA348405933 | PROC | c.1133G>A (p.Ser378Asn) c.457G>A c.1235G>A (p.Ser412Asn) c.1316G>A (p.Ser439Asn) c.1298G>A (p.Ser433Asn) c.1196G>A (p.Ser399Asn) n.1332-429C>T c.1376G>A (p.Ser459Asn) c.1478G>A (p.Ser493Asn) c.1418G>A (p.Ser473Asn) n.3607-429C>T n.4043-429C>T c.1301G>A (p.Ser434Asn) c.1319G>A (p.Ser440Asn) c.1076G>A (p.Ser359Asn) c.1109G>A (p.Ser370Asn) c.1127G>A (p.Ser376Asn) | |
2 | g.127428693G>C | CA348405934 | PROC | c.1133G>C (p.Ser378Thr) c.457G>C c.1235G>C (p.Ser412Thr) c.1316G>C (p.Ser439Thr) c.1298G>C (p.Ser433Thr) c.1196G>C (p.Ser399Thr) n.1332-429C>G c.1376G>C (p.Ser459Thr) c.1478G>C (p.Ser493Thr) c.1418G>C (p.Ser473Thr) n.3607-429C>G n.4043-429C>G c.1301G>C (p.Ser434Thr) c.1319G>C (p.Ser440Thr) c.1076G>C (p.Ser359Thr) c.1109G>C (p.Ser370Thr) c.1127G>C (p.Ser376Thr) | |
2 | g.127428693G>T | CA348405936 | PROC | c.1133G>T (p.Ser378Ile) c.457G>T c.1235G>T (p.Ser412Ile) c.1316G>T (p.Ser439Ile) c.1298G>T (p.Ser433Ile) c.1196G>T (p.Ser399Ile) n.1332-429C>A c.1376G>T (p.Ser459Ile) c.1478G>T (p.Ser493Ile) c.1418G>T (p.Ser473Ile) n.3607-429C>A n.4043-429C>A c.1301G>T (p.Ser434Ile) c.1319G>T (p.Ser440Ile) c.1076G>T (p.Ser359Ile) c.1109G>T (p.Ser370Ile) c.1127G>T (p.Ser376Ile) | |
2 | g.127428693dup | CA645516638 | PROC | c.1133dup (p.Ser378ArgfsTer6) c.457dup c.1235dup (p.Ser412ArgfsTer6) c.1316dup (p.Ser439ArgfsTer6) c.1298dup (p.Ser433ArgfsTer6) c.1196dup (p.Ser399ArgfsTer6) n.1332-429dup c.1376dup (p.Ser459ArgfsTer6) c.1478dup (p.Ser493ArgfsTer6) c.1418dup (p.Ser473ArgfsTer6) n.3607-429dup n.4043-429dup c.1301dup (p.Ser434ArgfsTer6) c.1319dup (p.Ser440ArgfsTer6) c.1076dup (p.Ser359ArgfsTer6) c.1109dup (p.Ser370ArgfsTer6) c.1127dup (p.Ser376ArgfsTer6) | COSMIC COSMIC |
2 | g.127428694C>A | CA348405939 | PROC | c.1134C>A (p.Ser378Arg) c.458C>A c.1236C>A (p.Ser412Arg) c.1317C>A (p.Ser439Arg) c.1299C>A (p.Ser433Arg) c.1197C>A (p.Ser399Arg) n.1332-430G>T c.1377C>A (p.Ser459Arg) c.1479C>A (p.Ser493Arg) c.1419C>A (p.Ser473Arg) n.3607-430G>T n.4043-430G>T c.1302C>A (p.Ser434Arg) c.1320C>A (p.Ser440Arg) c.1077C>A (p.Ser359Arg) c.1110C>A (p.Ser370Arg) c.1128C>A (p.Ser376Arg) | |
2 | g.127428694C>G | CA348405940 | PROC | c.1134C>G (p.Ser378Arg) c.458C>G c.1236C>G (p.Ser412Arg) c.1317C>G (p.Ser439Arg) c.1299C>G (p.Ser433Arg) c.1197C>G (p.Ser399Arg) n.1332-430G>C c.1377C>G (p.Ser459Arg) c.1479C>G (p.Ser493Arg) c.1419C>G (p.Ser473Arg) n.3607-430G>C n.4043-430G>C c.1302C>G (p.Ser434Arg) c.1320C>G (p.Ser440Arg) c.1077C>G (p.Ser359Arg) c.1110C>G (p.Ser370Arg) c.1128C>G (p.Ser376Arg) | gnomAD v4 |
2 | g.127428694C>T | CA428873237 | PROC | c.1134C>T (p.Ser378=) c.458C>T c.1236C>T (p.Ser412=) c.1317C>T (p.Ser439=) c.1299C>T (p.Ser433=) c.1197C>T (p.Ser399=) n.1332-430G>A c.1377C>T (p.Ser459=) c.1479C>T (p.Ser493=) c.1419C>T (p.Ser473=) n.3607-430G>A n.4043-430G>A c.1302C>T (p.Ser434=) c.1320C>T (p.Ser440=) c.1077C>T (p.Ser359=) c.1110C>T (p.Ser370=) c.1128C>T (p.Ser376=) | |
2 | g.127428695A>C | CA348405942 | PROC | c.1135A>C (p.Asn379His) c.459A>C c.1237A>C (p.Asn413His) c.1318A>C (p.Asn440His) c.1300A>C (p.Asn434His) c.1198A>C (p.Asn400His) n.1332-431T>G c.1378A>C (p.Asn460His) c.1480A>C (p.Asn494His) c.1420A>C (p.Asn474His) n.3607-431T>G n.4043-431T>G c.1303A>C (p.Asn435His) c.1321A>C (p.Asn441His) c.1078A>C (p.Asn360His) c.1111A>C (p.Asn371His) c.1129A>C (p.Asn377His) | |
2 | g.127428695A>G | CA348405944 | PROC | c.1135A>G (p.Asn379Asp) c.459A>G c.1237A>G (p.Asn413Asp) c.1318A>G (p.Asn440Asp) c.1300A>G (p.Asn434Asp) c.1198A>G (p.Asn400Asp) n.1332-431T>C c.1378A>G (p.Asn460Asp) c.1480A>G (p.Asn494Asp) c.1420A>G (p.Asn474Asp) n.3607-431T>C n.4043-431T>C c.1303A>G (p.Asn435Asp) c.1321A>G (p.Asn441Asp) c.1078A>G (p.Asn360Asp) c.1111A>G (p.Asn371Asp) c.1129A>G (p.Asn377Asp) | |
2 | g.127428695A>T | CA348405946 | PROC | c.1135A>T (p.Asn379Tyr) c.459A>T c.1237A>T (p.Asn413Tyr) c.1318A>T (p.Asn440Tyr) c.1300A>T (p.Asn434Tyr) c.1198A>T (p.Asn400Tyr) n.1332-431T>A c.1378A>T (p.Asn460Tyr) c.1480A>T (p.Asn494Tyr) c.1420A>T (p.Asn474Tyr) n.3607-431T>A n.4043-431T>A c.1303A>T (p.Asn435Tyr) c.1321A>T (p.Asn441Tyr) c.1078A>T (p.Asn360Tyr) c.1111A>T (p.Asn371Tyr) c.1129A>T (p.Asn377Tyr) | |
2 | g.127428696A= | CA1286884594 | PROC | c.1136A= (p.Asn379=) c.460A= c.1238A= (p.Asn413=) c.1319A= (p.Asn440=) c.1301A= (p.Asn434=) c.1199A= (p.Asn400=) n.1332-432T= c.1379A= (p.Asn460=) c.1481A= (p.Asn494=) c.1421A= (p.Asn474=) n.3607-432T= n.4043-432T= c.1304A= (p.Asn435=) c.1322A= (p.Asn441=) c.1079A= (p.Asn360=) c.1112A= (p.Asn371=) c.1130A= (p.Asn377=) | |
2 | g.127428696A>C | CA348405948 | PROC | c.1136A>C (p.Asn379Thr) c.460A>C c.1238A>C (p.Asn413Thr) c.1319A>C (p.Asn440Thr) c.1301A>C (p.Asn434Thr) c.1199A>C (p.Asn400Thr) n.1332-432T>G c.1379A>C (p.Asn460Thr) c.1481A>C (p.Asn494Thr) c.1421A>C (p.Asn474Thr) n.3607-432T>G n.4043-432T>G c.1304A>C (p.Asn435Thr) c.1322A>C (p.Asn441Thr) c.1079A>C (p.Asn360Thr) c.1112A>C (p.Asn371Thr) c.1130A>C (p.Asn377Thr) | |
2 | g.127428696A>G | CA348405951 | PROC | c.1136A>G (p.Asn379Ser) c.460A>G c.1238A>G (p.Asn413Ser) c.1319A>G (p.Asn440Ser) c.1301A>G (p.Asn434Ser) c.1199A>G (p.Asn400Ser) n.1332-432T>C c.1379A>G (p.Asn460Ser) c.1481A>G (p.Asn494Ser) c.1421A>G (p.Asn474Ser) n.3607-432T>C n.4043-432T>C c.1304A>G (p.Asn435Ser) c.1322A>G (p.Asn441Ser) c.1079A>G (p.Asn360Ser) c.1112A>G (p.Asn371Ser) c.1130A>G (p.Asn377Ser) | |
2 | g.127428696A>T | CA348405949 | PROC | c.1136A>T (p.Asn379Ile) c.460A>T c.1238A>T (p.Asn413Ile) c.1319A>T (p.Asn440Ile) c.1301A>T (p.Asn434Ile) c.1199A>T (p.Asn400Ile) n.1332-432T>A c.1379A>T (p.Asn460Ile) c.1481A>T (p.Asn494Ile) c.1421A>T (p.Asn474Ile) n.3607-432T>A n.4043-432T>A c.1304A>T (p.Asn435Ile) c.1322A>T (p.Asn441Ile) c.1079A>T (p.Asn360Ile) c.1112A>T (p.Asn371Ile) c.1130A>T (p.Asn377Ile) | dbSNP gnomAD v2 |
2 | g.127428697C>A | CA348405952 | PROC | c.1137C>A (p.Asn379Lys) c.461C>A c.1239C>A (p.Asn413Lys) c.1320C>A (p.Asn440Lys) c.1302C>A (p.Asn434Lys) c.1200C>A (p.Asn400Lys) n.1332-433G>T c.1380C>A (p.Asn460Lys) c.1482C>A (p.Asn494Lys) c.1422C>A (p.Asn474Lys) n.3607-433G>T n.4043-433G>T c.1305C>A (p.Asn435Lys) c.1323C>A (p.Asn441Lys) c.1080C>A (p.Asn360Lys) c.1113C>A (p.Asn371Lys) c.1131C>A (p.Asn377Lys) | |
2 | g.127428697C>G | CA348405953 | PROC | c.1137C>G (p.Asn379Lys) c.461C>G c.1239C>G (p.Asn413Lys) c.1320C>G (p.Asn440Lys) c.1302C>G (p.Asn434Lys) c.1200C>G (p.Asn400Lys) n.1332-433G>C c.1380C>G (p.Asn460Lys) c.1482C>G (p.Asn494Lys) c.1422C>G (p.Asn474Lys) n.3607-433G>C n.4043-433G>C c.1305C>G (p.Asn435Lys) c.1323C>G (p.Asn441Lys) c.1080C>G (p.Asn360Lys) c.1113C>G (p.Asn371Lys) c.1131C>G (p.Asn377Lys) | |
2 | g.127428697C>T | CA428873255 | PROC | c.1137C>T (p.Asn379=) c.461C>T c.1239C>T (p.Asn413=) c.1320C>T (p.Asn440=) c.1302C>T (p.Asn434=) c.1200C>T (p.Asn400=) n.1332-433G>A c.1380C>T (p.Asn460=) c.1482C>T (p.Asn494=) c.1422C>T (p.Asn474=) n.3607-433G>A n.4043-433G>A c.1305C>T (p.Asn435=) c.1323C>T (p.Asn441=) c.1080C>T (p.Asn360=) c.1113C>T (p.Asn371=) c.1131C>T (p.Asn377=) | |
2 | g.127428697_127428702dup | CA2586969921 | PROC | c.1137_1142dup (p.Val381_Ser382insMetVal) c.461_466dup c.1239_1244dup (p.Val415_Ser416insMetVal) c.1320_1325dup (p.Val442_Ser443insMetVal) c.1302_1307dup (p.Val436_Ser437insMetVal) c.1200_1205dup (p.Val402_Ser403insMetVal) n.1332-438_1332-433dup c.1380_1385dup (p.Val462_Ser463insMetVal) c.1482_1487dup (p.Val496_Ser497insMetVal) c.1422_1427dup (p.Val476_Ser477insMetVal) n.3607-438_3607-433dup n.4043-438_4043-433dup c.1305_1310dup (p.Val437_Ser438insMetVal) c.1323_1328dup (p.Val443_Ser444insMetVal) c.1080_1085dup (p.Val362_Ser363insMetVal) c.1113_1118dup (p.Val373_Ser374insMetVal) c.1131_1136dup (p.Val379_Ser380insMetVal) | |
2 | g.127428698A>C | CA348405956 | PROC | c.1138A>C (p.Met380Leu) c.462A>C c.1240A>C (p.Met414Leu) c.1321A>C (p.Met441Leu) c.1303A>C (p.Met435Leu) c.1201A>C (p.Met401Leu) n.1332-434T>G c.1381A>C (p.Met461Leu) c.1483A>C (p.Met495Leu) c.1423A>C (p.Met475Leu) n.3607-434T>G n.4043-434T>G c.1306A>C (p.Met436Leu) c.1324A>C (p.Met442Leu) c.1081A>C (p.Met361Leu) c.1114A>C (p.Met372Leu) c.1132A>C (p.Met378Leu) | |
2 | g.127428698A>G | CA348405958 | PROC | c.1138A>G (p.Met380Val) c.462A>G c.1240A>G (p.Met414Val) c.1321A>G (p.Met441Val) c.1303A>G (p.Met435Val) c.1201A>G (p.Met401Val) n.1332-434T>C c.1381A>G (p.Met461Val) c.1483A>G (p.Met495Val) c.1423A>G (p.Met475Val) n.3607-434T>C n.4043-434T>C c.1306A>G (p.Met436Val) c.1324A>G (p.Met442Val) c.1081A>G (p.Met361Val) c.1114A>G (p.Met372Val) c.1132A>G (p.Met378Val) | gnomAD v4 COSMIC |
2 | g.127428698A>T | CA348405960 | PROC | c.1138A>T (p.Met380Leu) c.462A>T c.1240A>T (p.Met414Leu) c.1321A>T (p.Met441Leu) c.1303A>T (p.Met435Leu) c.1201A>T (p.Met401Leu) n.1332-434T>A c.1381A>T (p.Met461Leu) c.1483A>T (p.Met495Leu) c.1423A>T (p.Met475Leu) n.3607-434T>A n.4043-434T>A c.1306A>T (p.Met436Leu) c.1324A>T (p.Met442Leu) c.1081A>T (p.Met361Leu) c.1114A>T (p.Met372Leu) c.1132A>T (p.Met378Leu) | |
2 | g.127428699T>A | CA348405963 | PROC | c.1139T>A (p.Met380Lys) c.463T>A c.1241T>A (p.Met414Lys) c.1322T>A (p.Met441Lys) c.1304T>A (p.Met435Lys) c.1202T>A (p.Met401Lys) n.1332-435A>T c.1382T>A (p.Met461Lys) c.1484T>A (p.Met495Lys) c.1424T>A (p.Met475Lys) n.3607-435A>T n.4043-435A>T c.1307T>A (p.Met436Lys) c.1325T>A (p.Met442Lys) c.1082T>A (p.Met361Lys) c.1115T>A (p.Met372Lys) c.1133T>A (p.Met378Lys) | |
2 | g.127428699T>C | CA348405965 | PROC | c.1139T>C (p.Met380Thr) c.463T>C c.1241T>C (p.Met414Thr) c.1322T>C (p.Met441Thr) c.1304T>C (p.Met435Thr) c.1202T>C (p.Met401Thr) n.1332-435A>G c.1382T>C (p.Met461Thr) c.1484T>C (p.Met495Thr) c.1424T>C (p.Met475Thr) n.3607-435A>G n.4043-435A>G c.1307T>C (p.Met436Thr) c.1325T>C (p.Met442Thr) c.1082T>C (p.Met361Thr) c.1115T>C (p.Met372Thr) c.1133T>C (p.Met378Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428699T>G | CA348405964 | PROC | c.1139T>G (p.Met380Arg) c.463T>G c.1241T>G (p.Met414Arg) c.1322T>G (p.Met441Arg) c.1304T>G (p.Met435Arg) c.1202T>G (p.Met401Arg) n.1332-435A>C c.1382T>G (p.Met461Arg) c.1484T>G (p.Met495Arg) c.1424T>G (p.Met475Arg) n.3607-435A>C n.4043-435A>C c.1307T>G (p.Met436Arg) c.1325T>G (p.Met442Arg) c.1082T>G (p.Met361Arg) c.1115T>G (p.Met372Arg) c.1133T>G (p.Met378Arg) | |
2 | g.127428699T= | CA1286884595 | PROC | c.1139T= (p.Met380=) c.463T= c.1241T= (p.Met414=) c.1322T= (p.Met441=) c.1304T= (p.Met435=) c.1202T= (p.Met401=) n.1332-435A= c.1382T= (p.Met461=) c.1484T= (p.Met495=) c.1424T= (p.Met475=) n.3607-435A= n.4043-435A= c.1307T= (p.Met436=) c.1325T= (p.Met442=) c.1082T= (p.Met361=) c.1115T= (p.Met372=) c.1133T= (p.Met378=) | |
2 | g.127428700G>A | CA348405966 | PROC | c.1140G>A (p.Met380Ile) c.464G>A c.1242G>A (p.Met414Ile) c.1323G>A (p.Met441Ile) c.1305G>A (p.Met435Ile) c.1203G>A (p.Met401Ile) n.1332-436C>T c.1383G>A (p.Met461Ile) c.1485G>A (p.Met495Ile) c.1425G>A (p.Met475Ile) n.3607-436C>T n.4043-436C>T c.1308G>A (p.Met436Ile) c.1326G>A (p.Met442Ile) c.1083G>A (p.Met361Ile) c.1116G>A (p.Met372Ile) c.1134G>A (p.Met378Ile) | dbSNP |
2 | g.127428700G>C | CA348405968 | PROC | c.1140G>C (p.Met380Ile) c.464G>C c.1242G>C (p.Met414Ile) c.1323G>C (p.Met441Ile) c.1305G>C (p.Met435Ile) c.1203G>C (p.Met401Ile) n.1332-436C>G c.1383G>C (p.Met461Ile) c.1485G>C (p.Met495Ile) c.1425G>C (p.Met475Ile) n.3607-436C>G n.4043-436C>G c.1308G>C (p.Met436Ile) c.1326G>C (p.Met442Ile) c.1083G>C (p.Met361Ile) c.1116G>C (p.Met372Ile) c.1134G>C (p.Met378Ile) | |
2 | g.127428700G= | CA1286884596 | PROC | c.1140G= (p.Met380=) c.464G= c.1242G= (p.Met414=) c.1323G= (p.Met441=) c.1305G= (p.Met435=) c.1203G= (p.Met401=) n.1332-436C= c.1383G= (p.Met461=) c.1485G= (p.Met495=) c.1425G= (p.Met475=) n.3607-436C= n.4043-436C= c.1308G= (p.Met436=) c.1326G= (p.Met442=) c.1083G= (p.Met361=) c.1116G= (p.Met372=) c.1134G= (p.Met378=) | |
2 | g.127428700G>T | CA348405969 | PROC | c.1140G>T (p.Met380Ile) c.464G>T c.1242G>T (p.Met414Ile) c.1323G>T (p.Met441Ile) c.1305G>T (p.Met435Ile) c.1203G>T (p.Met401Ile) n.1332-436C>A c.1383G>T (p.Met461Ile) c.1485G>T (p.Met495Ile) c.1425G>T (p.Met475Ile) n.3607-436C>A n.4043-436C>A c.1308G>T (p.Met436Ile) c.1326G>T (p.Met442Ile) c.1083G>T (p.Met361Ile) c.1116G>T (p.Met372Ile) c.1134G>T (p.Met378Ile) | |
2 | g.127428701G>A | CA348405971 | PROC | c.1141G>A (p.Val381Met) c.465G>A c.1243G>A (p.Val415Met) c.1324G>A (p.Val442Met) c.1306G>A (p.Val436Met) c.1204G>A (p.Val402Met) n.1332-437C>T c.1384G>A (p.Val462Met) c.1486G>A (p.Val496Met) c.1426G>A (p.Val476Met) n.3607-437C>T n.4043-437C>T c.1309G>A (p.Val437Met) c.1327G>A (p.Val443Met) c.1084G>A (p.Val362Met) c.1117G>A (p.Val373Met) c.1135G>A (p.Val379Met) | |
2 | g.127428701G>C | CA348405973 | PROC | c.1141G>C (p.Val381Leu) c.465G>C c.1243G>C (p.Val415Leu) c.1324G>C (p.Val442Leu) c.1306G>C (p.Val436Leu) c.1204G>C (p.Val402Leu) n.1332-437C>G c.1384G>C (p.Val462Leu) c.1486G>C (p.Val496Leu) c.1426G>C (p.Val476Leu) n.3607-437C>G n.4043-437C>G c.1309G>C (p.Val437Leu) c.1327G>C (p.Val443Leu) c.1084G>C (p.Val362Leu) c.1117G>C (p.Val373Leu) c.1135G>C (p.Val379Leu) | |
2 | g.127428701G>T | CA348405975 | PROC | c.1141G>T (p.Val381Leu) c.465G>T c.1243G>T (p.Val415Leu) c.1324G>T (p.Val442Leu) c.1306G>T (p.Val436Leu) c.1204G>T (p.Val402Leu) n.1332-437C>A c.1384G>T (p.Val462Leu) c.1486G>T (p.Val496Leu) c.1426G>T (p.Val476Leu) n.3607-437C>A n.4043-437C>A c.1309G>T (p.Val437Leu) c.1327G>T (p.Val443Leu) c.1084G>T (p.Val362Leu) c.1117G>T (p.Val373Leu) c.1135G>T (p.Val379Leu) | |
2 | g.127428702T>A | CA348405977 | PROC | c.1142T>A (p.Val381Glu) c.466T>A c.1244T>A (p.Val415Glu) c.1325T>A (p.Val442Glu) c.1307T>A (p.Val436Glu) c.1205T>A (p.Val402Glu) n.1332-438A>T c.1385T>A (p.Val462Glu) c.1487T>A (p.Val496Glu) c.1427T>A (p.Val476Glu) n.3607-438A>T n.4043-438A>T c.1310T>A (p.Val437Glu) c.1328T>A (p.Val443Glu) c.1085T>A (p.Val362Glu) c.1118T>A (p.Val373Glu) c.1136T>A (p.Val379Glu) | |
2 | g.127428702T>C | CA348405979 | PROC | c.1142T>C (p.Val381Ala) c.466T>C c.1244T>C (p.Val415Ala) c.1325T>C (p.Val442Ala) c.1307T>C (p.Val436Ala) c.1205T>C (p.Val402Ala) n.1332-438A>G c.1385T>C (p.Val462Ala) c.1487T>C (p.Val496Ala) c.1427T>C (p.Val476Ala) n.3607-438A>G n.4043-438A>G c.1310T>C (p.Val437Ala) c.1328T>C (p.Val443Ala) c.1085T>C (p.Val362Ala) c.1118T>C (p.Val373Ala) c.1136T>C (p.Val379Ala) | ClinVar gnomAD v4 |
2 | g.127428702T>G | CA348405981 | PROC | c.1142T>G (p.Val381Gly) c.466T>G c.1244T>G (p.Val415Gly) c.1325T>G (p.Val442Gly) c.1307T>G (p.Val436Gly) c.1205T>G (p.Val402Gly) n.1332-438A>C c.1385T>G (p.Val462Gly) c.1487T>G (p.Val496Gly) c.1427T>G (p.Val476Gly) n.3607-438A>C n.4043-438A>C c.1310T>G (p.Val437Gly) c.1328T>G (p.Val443Gly) c.1085T>G (p.Val362Gly) c.1118T>G (p.Val373Gly) c.1136T>G (p.Val379Gly) | |
2 | g.127428703G>A | CA428873290 | PROC | c.1143G>A (p.Val381=) c.467G>A c.1245G>A (p.Val415=) c.1326G>A (p.Val442=) c.1308G>A (p.Val436=) c.1206G>A (p.Val402=) n.1332-439C>T c.1386G>A (p.Val462=) c.1488G>A (p.Val496=) c.1428G>A (p.Val476=) n.3607-439C>T n.4043-439C>T c.1311G>A (p.Val437=) c.1329G>A (p.Val443=) c.1086G>A (p.Val362=) c.1119G>A (p.Val373=) c.1137G>A (p.Val379=) | |
2 | g.127428703G>C | CA428873292 | PROC | c.1143G>C (p.Val381=) c.467G>C c.1245G>C (p.Val415=) c.1326G>C (p.Val442=) c.1308G>C (p.Val436=) c.1206G>C (p.Val402=) n.1332-439C>G c.1386G>C (p.Val462=) c.1488G>C (p.Val496=) c.1428G>C (p.Val476=) n.3607-439C>G n.4043-439C>G c.1311G>C (p.Val437=) c.1329G>C (p.Val443=) c.1086G>C (p.Val362=) c.1119G>C (p.Val373=) c.1137G>C (p.Val379=) | |
2 | g.127428703G>T | CA428873295 | PROC | c.1143G>T (p.Val381=) c.467G>T c.1245G>T (p.Val415=) c.1326G>T (p.Val442=) c.1308G>T (p.Val436=) c.1206G>T (p.Val402=) n.1332-439C>A c.1386G>T (p.Val462=) c.1488G>T (p.Val496=) c.1428G>T (p.Val476=) n.3607-439C>A n.4043-439C>A c.1311G>T (p.Val437=) c.1329G>T (p.Val443=) c.1086G>T (p.Val362=) c.1119G>T (p.Val373=) c.1137G>T (p.Val379=) | |
2 | g.127428704T>A | CA348405982 | PROC | c.1144T>A (p.Ser382Thr) c.468T>A c.1246T>A (p.Ser416Thr) c.1327T>A (p.Ser443Thr) c.1309T>A (p.Ser437Thr) c.1207T>A (p.Ser403Thr) n.1332-440A>T c.1387T>A (p.Ser463Thr) c.1489T>A (p.Ser497Thr) c.1429T>A (p.Ser477Thr) n.3607-440A>T n.4043-440A>T c.1312T>A (p.Ser438Thr) c.1330T>A (p.Ser444Thr) c.1087T>A (p.Ser363Thr) c.1120T>A (p.Ser374Thr) c.1138T>A (p.Ser380Thr) | |
2 | g.127428704T>C | CA348405984 | PROC | c.1144T>C (p.Ser382Pro) c.468T>C c.1246T>C (p.Ser416Pro) c.1327T>C (p.Ser443Pro) c.1309T>C (p.Ser437Pro) c.1207T>C (p.Ser403Pro) n.1332-440A>G c.1387T>C (p.Ser463Pro) c.1489T>C (p.Ser497Pro) c.1429T>C (p.Ser477Pro) n.3607-440A>G n.4043-440A>G c.1312T>C (p.Ser438Pro) c.1330T>C (p.Ser444Pro) c.1087T>C (p.Ser363Pro) c.1120T>C (p.Ser374Pro) c.1138T>C (p.Ser380Pro) | |
2 | g.127428704T>G | CA348405986 | PROC | c.1144T>G (p.Ser382Ala) c.468T>G c.1246T>G (p.Ser416Ala) c.1327T>G (p.Ser443Ala) c.1309T>G (p.Ser437Ala) c.1207T>G (p.Ser403Ala) n.1332-440A>C c.1387T>G (p.Ser463Ala) c.1489T>G (p.Ser497Ala) c.1429T>G (p.Ser477Ala) n.3607-440A>C n.4043-440A>C c.1312T>G (p.Ser438Ala) c.1330T>G (p.Ser444Ala) c.1087T>G (p.Ser363Ala) c.1120T>G (p.Ser374Ala) c.1138T>G (p.Ser380Ala) | |
2 | g.127428705C>A | CA348405988 | PROC | c.1145C>A (p.Ser382Tyr) c.469C>A c.1247C>A (p.Ser416Tyr) c.1328C>A (p.Ser443Tyr) c.1310C>A (p.Ser437Tyr) c.1208C>A (p.Ser403Tyr) n.1332-441G>T c.1388C>A (p.Ser463Tyr) c.1490C>A (p.Ser497Tyr) c.1430C>A (p.Ser477Tyr) n.3607-441G>T n.4043-441G>T c.1313C>A (p.Ser438Tyr) c.1331C>A (p.Ser444Tyr) c.1088C>A (p.Ser363Tyr) c.1121C>A (p.Ser374Tyr) c.1139C>A (p.Ser380Tyr) | COSMIC COSMIC |
2 | g.127428705C>G | CA348405991 | PROC | c.1145C>G (p.Ser382Cys) c.469C>G c.1247C>G (p.Ser416Cys) c.1328C>G (p.Ser443Cys) c.1310C>G (p.Ser437Cys) c.1208C>G (p.Ser403Cys) n.1332-441G>C c.1388C>G (p.Ser463Cys) c.1490C>G (p.Ser497Cys) c.1430C>G (p.Ser477Cys) n.3607-441G>C n.4043-441G>C c.1313C>G (p.Ser438Cys) c.1331C>G (p.Ser444Cys) c.1088C>G (p.Ser363Cys) c.1121C>G (p.Ser374Cys) c.1139C>G (p.Ser380Cys) | |
2 | g.127428705C>T | CA348405989 | PROC | c.1145C>T (p.Ser382Phe) c.469C>T c.1247C>T (p.Ser416Phe) c.1328C>T (p.Ser443Phe) c.1310C>T (p.Ser437Phe) c.1208C>T (p.Ser403Phe) n.1332-441G>A c.1388C>T (p.Ser463Phe) c.1490C>T (p.Ser497Phe) c.1430C>T (p.Ser477Phe) n.3607-441G>A n.4043-441G>A c.1313C>T (p.Ser438Phe) c.1331C>T (p.Ser444Phe) c.1088C>T (p.Ser363Phe) c.1121C>T (p.Ser374Phe) c.1139C>T (p.Ser380Phe) | |
2 | g.127428706del | CA2837994719 | PROC | c.1146del (p.Glu383ArgfsTer?) c.470del c.1248del (p.Glu417ArgfsTer?) c.1329del (p.Glu444ArgfsTer?) c.1311del (p.Glu438ArgfsTer?) c.1209del (p.Glu404ArgfsTer?) n.1332-442del c.1389del (p.Glu464ArgfsTer?) c.1491del (p.Glu498ArgfsTer?) c.1431del (p.Glu478ArgfsTer?) n.3607-442del n.4043-442del c.1314del (p.Glu439ArgfsTer?) c.1332del (p.Glu445ArgfsTer?) c.1089del (p.Glu364ArgfsTer?) c.1122del (p.Glu375ArgfsTer?) c.1140del (p.Glu381ArgfsTer?) | |
2 | g.127428706T>A | CA428873297 | PROC | c.1146T>A (p.Ser382=) c.470T>A c.1248T>A (p.Ser416=) c.1329T>A (p.Ser443=) c.1311T>A (p.Ser437=) c.1209T>A (p.Ser403=) n.1332-442A>T c.1389T>A (p.Ser463=) c.1491T>A (p.Ser497=) c.1431T>A (p.Ser477=) n.3607-442A>T n.4043-442A>T c.1314T>A (p.Ser438=) c.1332T>A (p.Ser444=) c.1089T>A (p.Ser363=) c.1122T>A (p.Ser374=) c.1140T>A (p.Ser380=) | |
2 | g.127428706T>C | CA428873298 | PROC | c.1146T>C (p.Ser382=) c.470T>C c.1248T>C (p.Ser416=) c.1329T>C (p.Ser443=) c.1311T>C (p.Ser437=) c.1209T>C (p.Ser403=) n.1332-442A>G c.1389T>C (p.Ser463=) c.1491T>C (p.Ser497=) c.1431T>C (p.Ser477=) n.3607-442A>G n.4043-442A>G c.1314T>C (p.Ser438=) c.1332T>C (p.Ser444=) c.1089T>C (p.Ser363=) c.1122T>C (p.Ser374=) c.1140T>C (p.Ser380=) | gnomAD v4 |
2 | g.127428706T>G | CA428873299 | PROC | c.1146T>G (p.Ser382=) c.470T>G c.1248T>G (p.Ser416=) c.1329T>G (p.Ser443=) c.1311T>G (p.Ser437=) c.1209T>G (p.Ser403=) n.1332-442A>C c.1389T>G (p.Ser463=) c.1491T>G (p.Ser497=) c.1431T>G (p.Ser477=) n.3607-442A>C n.4043-442A>C c.1314T>G (p.Ser438=) c.1332T>G (p.Ser444=) c.1089T>G (p.Ser363=) c.1122T>G (p.Ser374=) c.1140T>G (p.Ser380=) | |
2 | g.127428707G>A | CA348405993 | PROC | c.1147G>A (p.Glu383Lys) c.471G>A c.1249G>A (p.Glu417Lys) c.1330G>A (p.Glu444Lys) c.1312G>A (p.Glu438Lys) c.1210G>A (p.Glu404Lys) n.1332-443C>T c.1390G>A (p.Glu464Lys) c.1492G>A (p.Glu498Lys) c.1432G>A (p.Glu478Lys) n.3607-443C>T n.4043-443C>T c.1315G>A (p.Glu439Lys) c.1333G>A (p.Glu445Lys) c.1090G>A (p.Glu364Lys) c.1123G>A (p.Glu375Lys) c.1141G>A (p.Glu381Lys) | |
2 | g.127428707G>C | CA348405994 | PROC | c.1147G>C (p.Glu383Gln) c.471G>C c.1249G>C (p.Glu417Gln) c.1330G>C (p.Glu444Gln) c.1312G>C (p.Glu438Gln) c.1210G>C (p.Glu404Gln) n.1332-443C>G c.1390G>C (p.Glu464Gln) c.1492G>C (p.Glu498Gln) c.1432G>C (p.Glu478Gln) n.3607-443C>G n.4043-443C>G c.1315G>C (p.Glu439Gln) c.1333G>C (p.Glu445Gln) c.1090G>C (p.Glu364Gln) c.1123G>C (p.Glu375Gln) c.1141G>C (p.Glu381Gln) | |
2 | g.127428707G>T | CA348405995 | PROC | c.1147G>T (p.Glu383Ter) c.471G>T c.1249G>T (p.Glu417Ter) c.1330G>T (p.Glu444Ter) c.1312G>T (p.Glu438Ter) c.1210G>T (p.Glu404Ter) n.1332-443C>A c.1390G>T (p.Glu464Ter) c.1492G>T (p.Glu498Ter) c.1432G>T (p.Glu478Ter) n.3607-443C>A n.4043-443C>A c.1315G>T (p.Glu439Ter) c.1333G>T (p.Glu445Ter) c.1090G>T (p.Glu364Ter) c.1123G>T (p.Glu375Ter) c.1141G>T (p.Glu381Ter) | |
2 | g.127428708A= | CA1286884597 | PROC | c.1148A= (p.Glu383=) c.472A= c.1250A= (p.Glu417=) c.1331A= (p.Glu444=) c.1313A= (p.Glu438=) c.1211A= (p.Glu404=) n.1332-444T= c.1391A= (p.Glu464=) c.1493A= (p.Glu498=) c.1433A= (p.Glu478=) n.3607-444T= n.4043-444T= c.1316A= (p.Glu439=) c.1334A= (p.Glu445=) c.1091A= (p.Glu364=) c.1124A= (p.Glu375=) c.1142A= (p.Glu381=) | |
2 | g.127428708A>C | CA348405998 | PROC | c.1148A>C (p.Glu383Ala) c.472A>C c.1250A>C (p.Glu417Ala) c.1331A>C (p.Glu444Ala) c.1313A>C (p.Glu438Ala) c.1211A>C (p.Glu404Ala) n.1332-444T>G c.1391A>C (p.Glu464Ala) c.1493A>C (p.Glu498Ala) c.1433A>C (p.Glu478Ala) n.3607-444T>G n.4043-444T>G c.1316A>C (p.Glu439Ala) c.1334A>C (p.Glu445Ala) c.1091A>C (p.Glu364Ala) c.1124A>C (p.Glu375Ala) c.1142A>C (p.Glu381Ala) | |
2 | g.127428708A>G | CA348405999 | PROC | c.1148A>G (p.Glu383Gly) c.472A>G c.1250A>G (p.Glu417Gly) c.1331A>G (p.Glu444Gly) c.1313A>G (p.Glu438Gly) c.1211A>G (p.Glu404Gly) n.1332-444T>C c.1391A>G (p.Glu464Gly) c.1493A>G (p.Glu498Gly) c.1433A>G (p.Glu478Gly) n.3607-444T>C n.4043-444T>C c.1316A>G (p.Glu439Gly) c.1334A>G (p.Glu445Gly) c.1091A>G (p.Glu364Gly) c.1124A>G (p.Glu375Gly) c.1142A>G (p.Glu381Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428708A>T | CA348406003 | PROC | c.1148A>T (p.Glu383Val) c.472A>T c.1250A>T (p.Glu417Val) c.1331A>T (p.Glu444Val) c.1313A>T (p.Glu438Val) c.1211A>T (p.Glu404Val) n.1332-444T>A c.1391A>T (p.Glu464Val) c.1493A>T (p.Glu498Val) c.1433A>T (p.Glu478Val) n.3607-444T>A n.4043-444T>A c.1316A>T (p.Glu439Val) c.1334A>T (p.Glu445Val) c.1091A>T (p.Glu364Val) c.1124A>T (p.Glu375Val) c.1142A>T (p.Glu381Val) | dbSNP |
2 | g.127428709G>A | CA428873307 | PROC | c.1149G>A (p.Glu383=) c.473G>A c.1251G>A (p.Glu417=) c.1332G>A (p.Glu444=) c.1314G>A (p.Glu438=) c.1212G>A (p.Glu404=) n.1332-445C>T c.1392G>A (p.Glu464=) c.1494G>A (p.Glu498=) c.1434G>A (p.Glu478=) n.3607-445C>T n.4043-445C>T c.1317G>A (p.Glu439=) c.1335G>A (p.Glu445=) c.1092G>A (p.Glu364=) c.1125G>A (p.Glu375=) c.1143G>A (p.Glu381=) | |
2 | g.127428709G>C | CA348406004 | PROC | c.1149G>C (p.Glu383Asp) c.473G>C c.1251G>C (p.Glu417Asp) c.1332G>C (p.Glu444Asp) c.1314G>C (p.Glu438Asp) c.1212G>C (p.Glu404Asp) n.1332-445C>G c.1392G>C (p.Glu464Asp) c.1494G>C (p.Glu498Asp) c.1434G>C (p.Glu478Asp) n.3607-445C>G n.4043-445C>G c.1317G>C (p.Glu439Asp) c.1335G>C (p.Glu445Asp) c.1092G>C (p.Glu364Asp) c.1125G>C (p.Glu375Asp) c.1143G>C (p.Glu381Asp) | |
2 | g.127428709G>T | CA348406008 | PROC | c.1149G>T (p.Glu383Asp) c.473G>T c.1251G>T (p.Glu417Asp) c.1332G>T (p.Glu444Asp) c.1314G>T (p.Glu438Asp) c.1212G>T (p.Glu404Asp) n.1332-445C>A c.1392G>T (p.Glu464Asp) c.1494G>T (p.Glu498Asp) c.1434G>T (p.Glu478Asp) n.3607-445C>A n.4043-445C>A c.1317G>T (p.Glu439Asp) c.1335G>T (p.Glu445Asp) c.1092G>T (p.Glu364Asp) c.1125G>T (p.Glu375Asp) c.1143G>T (p.Glu381Asp) | |
2 | g.127428710A>C | CA348406011 | PROC | c.1150A>C (p.Asn384His) c.474A>C c.1252A>C (p.Asn418His) c.1333A>C (p.Asn445His) c.1315A>C (p.Asn439His) c.1213A>C (p.Asn405His) n.1332-446T>G c.1393A>C (p.Asn465His) c.1495A>C (p.Asn499His) c.1435A>C (p.Asn479His) n.3607-446T>G n.4043-446T>G c.1318A>C (p.Asn440His) c.1336A>C (p.Asn446His) c.1093A>C (p.Asn365His) c.1126A>C (p.Asn376His) c.1144A>C (p.Asn382His) | |
2 | g.127428710A>G | CA348406013 | PROC | c.1150A>G (p.Asn384Asp) c.474A>G c.1252A>G (p.Asn418Asp) c.1333A>G (p.Asn445Asp) c.1315A>G (p.Asn439Asp) c.1213A>G (p.Asn405Asp) n.1332-446T>C c.1393A>G (p.Asn465Asp) c.1495A>G (p.Asn499Asp) c.1435A>G (p.Asn479Asp) n.3607-446T>C n.4043-446T>C c.1318A>G (p.Asn440Asp) c.1336A>G (p.Asn446Asp) c.1093A>G (p.Asn365Asp) c.1126A>G (p.Asn376Asp) c.1144A>G (p.Asn382Asp) | |
2 | g.127428710A>T | CA348406015 | PROC | c.1150A>T (p.Asn384Tyr) c.474A>T c.1252A>T (p.Asn418Tyr) c.1333A>T (p.Asn445Tyr) c.1315A>T (p.Asn439Tyr) c.1213A>T (p.Asn405Tyr) n.1332-446T>A c.1393A>T (p.Asn465Tyr) c.1495A>T (p.Asn499Tyr) c.1435A>T (p.Asn479Tyr) n.3607-446T>A n.4043-446T>A c.1318A>T (p.Asn440Tyr) c.1336A>T (p.Asn446Tyr) c.1093A>T (p.Asn365Tyr) c.1126A>T (p.Asn376Tyr) c.1144A>T (p.Asn382Tyr) | gnomAD v4 |
2 | g.127428711A>C | CA348406017 | PROC | c.1151A>C (p.Asn384Thr) c.475A>C c.1253A>C (p.Asn418Thr) c.1334A>C (p.Asn445Thr) c.1316A>C (p.Asn439Thr) c.1214A>C (p.Asn405Thr) n.1332-447T>G c.1394A>C (p.Asn465Thr) c.1496A>C (p.Asn499Thr) c.1436A>C (p.Asn479Thr) n.3607-447T>G n.4043-447T>G c.1319A>C (p.Asn440Thr) c.1337A>C (p.Asn446Thr) c.1094A>C (p.Asn365Thr) c.1127A>C (p.Asn376Thr) c.1145A>C (p.Asn382Thr) | |
2 | g.127428711A>G | CA348406019 | PROC | c.1151A>G (p.Asn384Ser) c.475A>G c.1253A>G (p.Asn418Ser) c.1334A>G (p.Asn445Ser) c.1316A>G (p.Asn439Ser) c.1214A>G (p.Asn405Ser) n.1332-447T>C c.1394A>G (p.Asn465Ser) c.1496A>G (p.Asn499Ser) c.1436A>G (p.Asn479Ser) n.3607-447T>C n.4043-447T>C c.1319A>G (p.Asn440Ser) c.1337A>G (p.Asn446Ser) c.1094A>G (p.Asn365Ser) c.1127A>G (p.Asn376Ser) c.1145A>G (p.Asn382Ser) | gnomAD v4 |
2 | g.127428711A>T | CA348406021 | PROC | c.1151A>T (p.Asn384Ile) c.475A>T c.1253A>T (p.Asn418Ile) c.1334A>T (p.Asn445Ile) c.1316A>T (p.Asn439Ile) c.1214A>T (p.Asn405Ile) n.1332-447T>A c.1394A>T (p.Asn465Ile) c.1496A>T (p.Asn499Ile) c.1436A>T (p.Asn479Ile) n.3607-447T>A n.4043-447T>A c.1319A>T (p.Asn440Ile) c.1337A>T (p.Asn446Ile) c.1094A>T (p.Asn365Ile) c.1127A>T (p.Asn376Ile) c.1145A>T (p.Asn382Ile) | |
2 | g.127428712C>A | CA348406023 | PROC | c.1152C>A (p.Asn384Lys) c.476C>A c.1254C>A (p.Asn418Lys) c.1335C>A (p.Asn445Lys) c.1317C>A (p.Asn439Lys) c.1215C>A (p.Asn405Lys) n.1332-448G>T c.1395C>A (p.Asn465Lys) c.1497C>A (p.Asn499Lys) c.1437C>A (p.Asn479Lys) n.3607-448G>T n.4043-448G>T c.1320C>A (p.Asn440Lys) c.1338C>A (p.Asn446Lys) c.1095C>A (p.Asn365Lys) c.1128C>A (p.Asn376Lys) c.1146C>A (p.Asn382Lys) | |
2 | g.127428712C= | CA1286884598 | PROC | c.1152C= (p.Asn384=) c.476C= c.1254C= (p.Asn418=) c.1335C= (p.Asn445=) c.1317C= (p.Asn439=) c.1215C= (p.Asn405=) n.1332-448G= c.1395C= (p.Asn465=) c.1497C= (p.Asn499=) c.1437C= (p.Asn479=) n.3607-448G= n.4043-448G= c.1320C= (p.Asn440=) c.1338C= (p.Asn446=) c.1095C= (p.Asn365=) c.1128C= (p.Asn376=) c.1146C= (p.Asn382=) | |
2 | g.127428712C>G | CA348406025 | PROC | c.1152C>G (p.Asn384Lys) c.476C>G c.1254C>G (p.Asn418Lys) c.1335C>G (p.Asn445Lys) c.1317C>G (p.Asn439Lys) c.1215C>G (p.Asn405Lys) n.1332-448G>C c.1395C>G (p.Asn465Lys) c.1497C>G (p.Asn499Lys) c.1437C>G (p.Asn479Lys) n.3607-448G>C n.4043-448G>C c.1320C>G (p.Asn440Lys) c.1338C>G (p.Asn446Lys) c.1095C>G (p.Asn365Lys) c.1128C>G (p.Asn376Lys) c.1146C>G (p.Asn382Lys) | |
2 | g.127428712C>T | CA428873317 | PROC | c.1152C>T (p.Asn384=) c.476C>T c.1254C>T (p.Asn418=) c.1335C>T (p.Asn445=) c.1317C>T (p.Asn439=) c.1215C>T (p.Asn405=) n.1332-448G>A c.1395C>T (p.Asn465=) c.1497C>T (p.Asn499=) c.1437C>T (p.Asn479=) n.3607-448G>A n.4043-448G>A c.1320C>T (p.Asn440=) c.1338C>T (p.Asn446=) c.1095C>T (p.Asn365=) c.1128C>T (p.Asn376=) c.1146C>T (p.Asn382=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428712dup | CA2839571243 | PROC | c.1152dup (p.Met385HisfsTer?) c.476dup c.1254dup (p.Met419HisfsTer?) c.1335dup (p.Met446HisfsTer?) c.1317dup (p.Met440HisfsTer?) c.1215dup (p.Met406HisfsTer?) n.1332-448dup c.1395dup (p.Met466HisfsTer?) c.1497dup (p.Met500HisfsTer?) c.1437dup (p.Met480HisfsTer?) n.3607-448dup n.4043-448dup c.1320dup (p.Met441HisfsTer?) c.1338dup (p.Met447HisfsTer?) c.1095dup (p.Met366HisfsTer?) c.1128dup (p.Met377HisfsTer?) c.1146dup (p.Met383HisfsTer?) | |
2 | g.127428713A= | CA1286884599 | PROC | c.1153A= (p.Met385=) c.477A= c.1255A= (p.Met419=) c.1336A= (p.Met446=) c.1318A= (p.Met440=) c.1216A= (p.Met406=) n.1332-449T= c.1396A= (p.Met466=) c.1498A= (p.Met500=) c.1438A= (p.Met480=) n.3607-449T= n.4043-449T= c.1321A= (p.Met441=) c.1339A= (p.Met447=) c.1096A= (p.Met366=) c.1129A= (p.Met377=) c.1147A= (p.Met383=) | |
2 | g.127428713A>C | CA348406027 | PROC | c.1153A>C (p.Met385Leu) c.477A>C c.1255A>C (p.Met419Leu) c.1336A>C (p.Met446Leu) c.1318A>C (p.Met440Leu) c.1216A>C (p.Met406Leu) n.1332-449T>G c.1396A>C (p.Met466Leu) c.1498A>C (p.Met500Leu) c.1438A>C (p.Met480Leu) n.3607-449T>G n.4043-449T>G c.1321A>C (p.Met441Leu) c.1339A>C (p.Met447Leu) c.1096A>C (p.Met366Leu) c.1129A>C (p.Met377Leu) c.1147A>C (p.Met383Leu) | |
2 | g.127428713A>G | CA348406029 | PROC | c.1153A>G (p.Met385Val) c.477A>G c.1255A>G (p.Met419Val) c.1336A>G (p.Met446Val) c.1318A>G (p.Met440Val) c.1216A>G (p.Met406Val) n.1332-449T>C c.1396A>G (p.Met466Val) c.1498A>G (p.Met500Val) c.1438A>G (p.Met480Val) n.3607-449T>C n.4043-449T>C c.1321A>G (p.Met441Val) c.1339A>G (p.Met447Val) c.1096A>G (p.Met366Val) c.1129A>G (p.Met377Val) c.1147A>G (p.Met383Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428713A>T | CA348406030 | PROC | c.1153A>T (p.Met385Leu) c.477A>T c.1255A>T (p.Met419Leu) c.1336A>T (p.Met446Leu) c.1318A>T (p.Met440Leu) c.1216A>T (p.Met406Leu) n.1332-449T>A c.1396A>T (p.Met466Leu) c.1498A>T (p.Met500Leu) c.1438A>T (p.Met480Leu) n.3607-449T>A n.4043-449T>A c.1321A>T (p.Met441Leu) c.1339A>T (p.Met447Leu) c.1096A>T (p.Met366Leu) c.1129A>T (p.Met377Leu) c.1147A>T (p.Met383Leu) | |
2 | g.127428714T>A | CA348406033 | PROC | c.1154T>A (p.Met385Lys) c.478T>A c.1256T>A (p.Met419Lys) c.1337T>A (p.Met446Lys) c.1319T>A (p.Met440Lys) c.1217T>A (p.Met406Lys) n.1332-450A>T c.1397T>A (p.Met466Lys) c.1499T>A (p.Met500Lys) c.1439T>A (p.Met480Lys) n.3607-450A>T n.4043-450A>T c.1322T>A (p.Met441Lys) c.1340T>A (p.Met447Lys) c.1097T>A (p.Met366Lys) c.1130T>A (p.Met377Lys) c.1148T>A (p.Met383Lys) | |
2 | g.127428714T>C | CA348406040 | PROC | c.1154T>C (p.Met385Thr) c.478T>C c.1256T>C (p.Met419Thr) c.1337T>C (p.Met446Thr) c.1319T>C (p.Met440Thr) c.1217T>C (p.Met406Thr) n.1332-450A>G c.1397T>C (p.Met466Thr) c.1499T>C (p.Met500Thr) c.1439T>C (p.Met480Thr) n.3607-450A>G n.4043-450A>G c.1322T>C (p.Met441Thr) c.1340T>C (p.Met447Thr) c.1097T>C (p.Met366Thr) c.1130T>C (p.Met377Thr) c.1148T>C (p.Met383Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.127428714T>G | CA348406042 | PROC | c.1154T>G (p.Met385Arg) c.478T>G c.1256T>G (p.Met419Arg) c.1337T>G (p.Met446Arg) c.1319T>G (p.Met440Arg) c.1217T>G (p.Met406Arg) n.1332-450A>C c.1397T>G (p.Met466Arg) c.1499T>G (p.Met500Arg) c.1439T>G (p.Met480Arg) n.3607-450A>C n.4043-450A>C c.1322T>G (p.Met441Arg) c.1340T>G (p.Met447Arg) c.1097T>G (p.Met366Arg) c.1130T>G (p.Met377Arg) c.1148T>G (p.Met383Arg) | |
2 | g.127428714T= | CA1286884600 | PROC | c.1154T= (p.Met385=) c.478T= c.1256T= (p.Met419=) c.1337T= (p.Met446=) c.1319T= (p.Met440=) c.1217T= (p.Met406=) n.1332-450A= c.1397T= (p.Met466=) c.1499T= (p.Met500=) c.1439T= (p.Met480=) n.3607-450A= n.4043-450A= c.1322T= (p.Met441=) c.1340T= (p.Met447=) c.1097T= (p.Met366=) c.1130T= (p.Met377=) c.1148T= (p.Met383=) | |
2 | g.127428715G>A | CA348406045 | PROC | c.1155G>A (p.Met385Ile) c.479G>A c.1257G>A (p.Met419Ile) c.1338G>A (p.Met446Ile) c.1320G>A (p.Met440Ile) c.1218G>A (p.Met406Ile) n.1332-451C>T c.1398G>A (p.Met466Ile) c.1500G>A (p.Met500Ile) c.1440G>A (p.Met480Ile) n.3607-451C>T n.4043-451C>T c.1323G>A (p.Met441Ile) c.1341G>A (p.Met447Ile) c.1098G>A (p.Met366Ile) c.1131G>A (p.Met377Ile) c.1149G>A (p.Met383Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.127428715G>C | CA348406046 | PROC | c.1155G>C (p.Met385Ile) c.479G>C c.1257G>C (p.Met419Ile) c.1338G>C (p.Met446Ile) c.1320G>C (p.Met440Ile) c.1218G>C (p.Met406Ile) n.1332-451C>G c.1398G>C (p.Met466Ile) c.1500G>C (p.Met500Ile) c.1440G>C (p.Met480Ile) n.3607-451C>G n.4043-451C>G c.1323G>C (p.Met441Ile) c.1341G>C (p.Met447Ile) c.1098G>C (p.Met366Ile) c.1131G>C (p.Met377Ile) c.1149G>C (p.Met383Ile) | |
2 | g.127428715G= | CA1286884601 | PROC | c.1155G= (p.Met385=) c.479G= c.1257G= (p.Met419=) c.1338G= (p.Met446=) c.1320G= (p.Met440=) c.1218G= (p.Met406=) n.1332-451C= c.1398G= (p.Met466=) c.1500G= (p.Met500=) c.1440G= (p.Met480=) n.3607-451C= n.4043-451C= c.1323G= (p.Met441=) c.1341G= (p.Met447=) c.1098G= (p.Met366=) c.1131G= (p.Met377=) c.1149G= (p.Met383=) | |
2 | g.127428715G>T | CA348406047 | PROC | c.1155G>T (p.Met385Ile) c.479G>T c.1257G>T (p.Met419Ile) c.1338G>T (p.Met446Ile) c.1320G>T (p.Met440Ile) c.1218G>T (p.Met406Ile) n.1332-451C>A c.1398G>T (p.Met466Ile) c.1500G>T (p.Met500Ile) c.1440G>T (p.Met480Ile) n.3607-451C>A n.4043-451C>A c.1323G>T (p.Met441Ile) c.1341G>T (p.Met447Ile) c.1098G>T (p.Met366Ile) c.1131G>T (p.Met377Ile) c.1149G>T (p.Met383Ile) | |
2 | g.127428715dup | CA2839571244 | PROC | c.1155dup (p.Leu386AlafsTer?) c.479dup c.1257dup (p.Leu420AlafsTer?) c.1338dup (p.Leu447AlafsTer?) c.1320dup (p.Leu441AlafsTer?) c.1218dup (p.Leu407AlafsTer?) n.1332-451dup c.1398dup (p.Leu467AlafsTer?) c.1500dup (p.Leu501AlafsTer?) c.1440dup (p.Leu481AlafsTer?) n.3607-451dup n.4043-451dup c.1323dup (p.Leu442AlafsTer?) c.1341dup (p.Leu448AlafsTer?) c.1098dup (p.Leu367AlafsTer?) c.1131dup (p.Leu378AlafsTer?) c.1149dup (p.Leu384AlafsTer?) | |
2 | g.127428716C>A | CA348406049 | PROC | c.1156C>A (p.Leu386Met) c.480C>A c.1258C>A (p.Leu420Met) c.1339C>A (p.Leu447Met) c.1321C>A (p.Leu441Met) c.1219C>A (p.Leu407Met) n.1332-452G>T c.1399C>A (p.Leu467Met) c.1501C>A (p.Leu501Met) c.1441C>A (p.Leu481Met) n.3607-452G>T n.4043-452G>T c.1324C>A (p.Leu442Met) c.1342C>A (p.Leu448Met) c.1099C>A (p.Leu367Met) c.1132C>A (p.Leu378Met) c.1150C>A (p.Leu384Met) | |
2 | g.127428716C= | CA1286884602 | PROC | c.1156C= (p.Leu386=) c.480C= c.1258C= (p.Leu420=) c.1339C= (p.Leu447=) c.1321C= (p.Leu441=) c.1219C= (p.Leu407=) n.1332-452G= c.1399C= (p.Leu467=) c.1501C= (p.Leu501=) c.1441C= (p.Leu481=) n.3607-452G= n.4043-452G= c.1324C= (p.Leu442=) c.1342C= (p.Leu448=) c.1099C= (p.Leu367=) c.1132C= (p.Leu378=) c.1150C= (p.Leu384=) | |
2 | g.127428716C>G | CA348406050 | PROC | c.1156C>G (p.Leu386Val) c.480C>G c.1258C>G (p.Leu420Val) c.1339C>G (p.Leu447Val) c.1321C>G (p.Leu441Val) c.1219C>G (p.Leu407Val) n.1332-452G>C c.1399C>G (p.Leu467Val) c.1501C>G (p.Leu501Val) c.1441C>G (p.Leu481Val) n.3607-452G>C n.4043-452G>C c.1324C>G (p.Leu442Val) c.1342C>G (p.Leu448Val) c.1099C>G (p.Leu367Val) c.1132C>G (p.Leu378Val) c.1150C>G (p.Leu384Val) | |
2 | g.127428716C>T | CA428873344 | PROC | c.1156C>T (p.Leu386=) c.480C>T c.1258C>T (p.Leu420=) c.1339C>T (p.Leu447=) c.1321C>T (p.Leu441=) c.1219C>T (p.Leu407=) n.1332-452G>A c.1399C>T (p.Leu467=) c.1501C>T (p.Leu501=) c.1441C>T (p.Leu481=) n.3607-452G>A n.4043-452G>A c.1324C>T (p.Leu442=) c.1342C>T (p.Leu448=) c.1099C>T (p.Leu367=) c.1132C>T (p.Leu378=) c.1150C>T (p.Leu384=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428717T>A | CA348406052 | PROC | c.1157T>A (p.Leu386Gln) c.481T>A c.1259T>A (p.Leu420Gln) c.1340T>A (p.Leu447Gln) c.1322T>A (p.Leu441Gln) c.1220T>A (p.Leu407Gln) n.1332-453A>T c.1400T>A (p.Leu467Gln) c.1502T>A (p.Leu501Gln) c.1442T>A (p.Leu481Gln) n.3607-453A>T n.4043-453A>T c.1325T>A (p.Leu442Gln) c.1343T>A (p.Leu448Gln) c.1100T>A (p.Leu367Gln) c.1133T>A (p.Leu378Gln) c.1151T>A (p.Leu384Gln) | |
2 | g.127428717T>C | CA348406056 | PROC | c.1157T>C (p.Leu386Pro) c.481T>C c.1259T>C (p.Leu420Pro) c.1340T>C (p.Leu447Pro) c.1322T>C (p.Leu441Pro) c.1220T>C (p.Leu407Pro) n.1332-453A>G c.1400T>C (p.Leu467Pro) c.1502T>C (p.Leu501Pro) c.1442T>C (p.Leu481Pro) n.3607-453A>G n.4043-453A>G c.1325T>C (p.Leu442Pro) c.1343T>C (p.Leu448Pro) c.1100T>C (p.Leu367Pro) c.1133T>C (p.Leu378Pro) c.1151T>C (p.Leu384Pro) | |
2 | g.127428717T>G | CA348406054 | PROC | c.1157T>G (p.Leu386Arg) c.481T>G c.1259T>G (p.Leu420Arg) c.1340T>G (p.Leu447Arg) c.1322T>G (p.Leu441Arg) c.1220T>G (p.Leu407Arg) n.1332-453A>C c.1400T>G (p.Leu467Arg) c.1502T>G (p.Leu501Arg) c.1442T>G (p.Leu481Arg) n.3607-453A>C n.4043-453A>C c.1325T>G (p.Leu442Arg) c.1343T>G (p.Leu448Arg) c.1100T>G (p.Leu367Arg) c.1133T>G (p.Leu378Arg) c.1151T>G (p.Leu384Arg) | |
2 | g.127428718G>A | CA428873372 | PROC | c.1158G>A (p.Leu386=) c.482G>A c.1260G>A (p.Leu420=) c.1341G>A (p.Leu447=) c.1323G>A (p.Leu441=) c.1221G>A (p.Leu407=) n.1332-454C>T c.1401G>A (p.Leu467=) c.1503G>A (p.Leu501=) c.1443G>A (p.Leu481=) n.3607-454C>T n.4043-454C>T c.1326G>A (p.Leu442=) c.1344G>A (p.Leu448=) c.1101G>A (p.Leu367=) c.1134G>A (p.Leu378=) c.1152G>A (p.Leu384=) | |
2 | g.127428718G>C | CA428873374 | PROC | c.1158G>C (p.Leu386=) c.482G>C c.1260G>C (p.Leu420=) c.1341G>C (p.Leu447=) c.1323G>C (p.Leu441=) c.1221G>C (p.Leu407=) n.1332-454C>G c.1401G>C (p.Leu467=) c.1503G>C (p.Leu501=) c.1443G>C (p.Leu481=) n.3607-454C>G n.4043-454C>G c.1326G>C (p.Leu442=) c.1344G>C (p.Leu448=) c.1101G>C (p.Leu367=) c.1134G>C (p.Leu378=) c.1152G>C (p.Leu384=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428718G= | CA1286884603 | PROC | c.1158G= (p.Leu386=) c.482G= c.1260G= (p.Leu420=) c.1341G= (p.Leu447=) c.1323G= (p.Leu441=) c.1221G= (p.Leu407=) n.1332-454C= c.1401G= (p.Leu467=) c.1503G= (p.Leu501=) c.1443G= (p.Leu481=) n.3607-454C= n.4043-454C= c.1326G= (p.Leu442=) c.1344G= (p.Leu448=) c.1101G= (p.Leu367=) c.1134G= (p.Leu378=) c.1152G= (p.Leu384=) | |
2 | g.127428718G>T | CA428873373 | PROC | c.1158G>T (p.Leu386=) c.482G>T c.1260G>T (p.Leu420=) c.1341G>T (p.Leu447=) c.1323G>T (p.Leu441=) c.1221G>T (p.Leu407=) n.1332-454C>A c.1401G>T (p.Leu467=) c.1503G>T (p.Leu501=) c.1443G>T (p.Leu481=) n.3607-454C>A n.4043-454C>A c.1326G>T (p.Leu442=) c.1344G>T (p.Leu448=) c.1101G>T (p.Leu367=) c.1134G>T (p.Leu378=) c.1152G>T (p.Leu384=) | |
2 | g.127428719T>A | CA348406063 | PROC | c.1159T>A (p.Cys387Ser) c.483T>A c.1261T>A (p.Cys421Ser) c.1342T>A (p.Cys448Ser) c.1324T>A (p.Cys442Ser) c.1222T>A (p.Cys408Ser) n.1332-455A>T c.1402T>A (p.Cys468Ser) c.1504T>A (p.Cys502Ser) c.1444T>A (p.Cys482Ser) n.3607-455A>T n.4043-455A>T c.1327T>A (p.Cys443Ser) c.1345T>A (p.Cys449Ser) c.1102T>A (p.Cys368Ser) c.1135T>A (p.Cys379Ser) c.1153T>A (p.Cys385Ser) | |
2 | g.127428719T>C | CA348406067 | PROC | c.1159T>C (p.Cys387Arg) c.483T>C c.1261T>C (p.Cys421Arg) c.1342T>C (p.Cys448Arg) c.1324T>C (p.Cys442Arg) c.1222T>C (p.Cys408Arg) n.1332-455A>G c.1402T>C (p.Cys468Arg) c.1504T>C (p.Cys502Arg) c.1444T>C (p.Cys482Arg) n.3607-455A>G n.4043-455A>G c.1327T>C (p.Cys443Arg) c.1345T>C (p.Cys449Arg) c.1102T>C (p.Cys368Arg) c.1135T>C (p.Cys379Arg) c.1153T>C (p.Cys385Arg) | |
2 | g.127428719T>G | CA348406064 | PROC | c.1159T>G (p.Cys387Gly) c.483T>G c.1261T>G (p.Cys421Gly) c.1342T>G (p.Cys448Gly) c.1324T>G (p.Cys442Gly) c.1222T>G (p.Cys408Gly) n.1332-455A>C c.1402T>G (p.Cys468Gly) c.1504T>G (p.Cys502Gly) c.1444T>G (p.Cys482Gly) n.3607-455A>C n.4043-455A>C c.1327T>G (p.Cys443Gly) c.1345T>G (p.Cys449Gly) c.1102T>G (p.Cys368Gly) c.1135T>G (p.Cys379Gly) c.1153T>G (p.Cys385Gly) | |
2 | g.127428720G>A | CA348406069 | PROC | c.1160G>A (p.Cys387Tyr) c.484G>A c.1262G>A (p.Cys421Tyr) c.1343G>A (p.Cys448Tyr) c.1325G>A (p.Cys442Tyr) c.1223G>A (p.Cys408Tyr) n.1332-456C>T c.1403G>A (p.Cys468Tyr) c.1505G>A (p.Cys502Tyr) c.1445G>A (p.Cys482Tyr) n.3607-456C>T n.4043-456C>T c.1328G>A (p.Cys443Tyr) c.1346G>A (p.Cys449Tyr) c.1103G>A (p.Cys368Tyr) c.1136G>A (p.Cys379Tyr) c.1154G>A (p.Cys385Tyr) | gnomAD v4 |
2 | g.127428720G>C | CA348406070 | PROC | c.1160G>C (p.Cys387Ser) c.484G>C c.1262G>C (p.Cys421Ser) c.1343G>C (p.Cys448Ser) c.1325G>C (p.Cys442Ser) c.1223G>C (p.Cys408Ser) n.1332-456C>G c.1403G>C (p.Cys468Ser) c.1505G>C (p.Cys502Ser) c.1445G>C (p.Cys482Ser) n.3607-456C>G n.4043-456C>G c.1328G>C (p.Cys443Ser) c.1346G>C (p.Cys449Ser) c.1103G>C (p.Cys368Ser) c.1136G>C (p.Cys379Ser) c.1154G>C (p.Cys385Ser) | |
2 | g.127428720G>T | CA348406071 | PROC | c.1160G>T (p.Cys387Phe) c.484G>T c.1262G>T (p.Cys421Phe) c.1343G>T (p.Cys448Phe) c.1325G>T (p.Cys442Phe) c.1223G>T (p.Cys408Phe) n.1332-456C>A c.1403G>T (p.Cys468Phe) c.1505G>T (p.Cys502Phe) c.1445G>T (p.Cys482Phe) n.3607-456C>A n.4043-456C>A c.1328G>T (p.Cys443Phe) c.1346G>T (p.Cys449Phe) c.1103G>T (p.Cys368Phe) c.1136G>T (p.Cys379Phe) c.1154G>T (p.Cys385Phe) | |
2 | g.127428721T>A | CA348406074 | PROC | c.1161T>A (p.Cys387Ter) c.485T>A c.1263T>A (p.Cys421Ter) c.1344T>A (p.Cys448Ter) c.1326T>A (p.Cys442Ter) c.1224T>A (p.Cys408Ter) n.1332-457A>T c.1404T>A (p.Cys468Ter) c.1506T>A (p.Cys502Ter) c.1446T>A (p.Cys482Ter) n.3607-457A>T n.4043-457A>T c.1329T>A (p.Cys443Ter) c.1347T>A (p.Cys449Ter) c.1104T>A (p.Cys368Ter) c.1137T>A (p.Cys379Ter) c.1155T>A (p.Cys385Ter) | |
2 | g.127428721T>C | CA1859533 | PROC | c.1161T>C (p.Cys387=) c.485T>C c.1263T>C (p.Cys421=) c.1344T>C (p.Cys448=) c.1326T>C (p.Cys442=) c.1224T>C (p.Cys408=) n.1332-457A>G c.1404T>C (p.Cys468=) c.1506T>C (p.Cys502=) c.1446T>C (p.Cys482=) n.3607-457A>G n.4043-457A>G c.1329T>C (p.Cys443=) c.1347T>C (p.Cys449=) c.1104T>C (p.Cys368=) c.1137T>C (p.Cys379=) c.1155T>C (p.Cys385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428721T>G | CA348406077 | PROC | c.1161T>G (p.Cys387Trp) c.485T>G c.1263T>G (p.Cys421Trp) c.1344T>G (p.Cys448Trp) c.1326T>G (p.Cys442Trp) c.1224T>G (p.Cys408Trp) n.1332-457A>C c.1404T>G (p.Cys468Trp) c.1506T>G (p.Cys502Trp) c.1446T>G (p.Cys482Trp) n.3607-457A>C n.4043-457A>C c.1329T>G (p.Cys443Trp) c.1347T>G (p.Cys449Trp) c.1104T>G (p.Cys368Trp) c.1137T>G (p.Cys379Trp) c.1155T>G (p.Cys385Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428721T= | CA1286884604 | PROC | c.1161T= (p.Cys387=) c.485T= c.1263T= (p.Cys421=) c.1344T= (p.Cys448=) c.1326T= (p.Cys442=) c.1224T= (p.Cys408=) n.1332-457A= c.1404T= (p.Cys468=) c.1506T= (p.Cys502=) c.1446T= (p.Cys482=) n.3607-457A= n.4043-457A= c.1329T= (p.Cys443=) c.1347T= (p.Cys449=) c.1104T= (p.Cys368=) c.1137T= (p.Cys379=) c.1155T= (p.Cys385=) | |
2 | g.127428722G>A | CA348406080 | PROC | c.1162G>A (p.Ala388Thr) c.486G>A c.1264G>A (p.Ala422Thr) c.1345G>A (p.Ala449Thr) c.1327G>A (p.Ala443Thr) c.1225G>A (p.Ala409Thr) n.1332-458C>T c.1405G>A (p.Ala469Thr) c.1507G>A (p.Ala503Thr) c.1447G>A (p.Ala483Thr) n.3607-458C>T n.4043-458C>T c.1330G>A (p.Ala444Thr) c.1348G>A (p.Ala450Thr) c.1105G>A (p.Ala369Thr) c.1138G>A (p.Ala380Thr) c.1156G>A (p.Ala386Thr) | gnomAD v4 |
2 | g.127428722G>C | CA348406084 | PROC | c.1162G>C (p.Ala388Pro) c.486G>C c.1264G>C (p.Ala422Pro) c.1345G>C (p.Ala449Pro) c.1327G>C (p.Ala443Pro) c.1225G>C (p.Ala409Pro) n.1332-458C>G c.1405G>C (p.Ala469Pro) c.1507G>C (p.Ala503Pro) c.1447G>C (p.Ala483Pro) n.3607-458C>G n.4043-458C>G c.1330G>C (p.Ala444Pro) c.1348G>C (p.Ala450Pro) c.1105G>C (p.Ala369Pro) c.1138G>C (p.Ala380Pro) c.1156G>C (p.Ala386Pro) | |
2 | g.127428722G>T | CA348406086 | PROC | c.1162G>T (p.Ala388Ser) c.486G>T c.1264G>T (p.Ala422Ser) c.1345G>T (p.Ala449Ser) c.1327G>T (p.Ala443Ser) c.1225G>T (p.Ala409Ser) n.1332-458C>A c.1405G>T (p.Ala469Ser) c.1507G>T (p.Ala503Ser) c.1447G>T (p.Ala483Ser) n.3607-458C>A n.4043-458C>A c.1330G>T (p.Ala444Ser) c.1348G>T (p.Ala450Ser) c.1105G>T (p.Ala369Ser) c.1138G>T (p.Ala380Ser) c.1156G>T (p.Ala386Ser) | gnomAD v4 |
2 | g.127428723C>A | CA348406087 | PROC | c.1163C>A (p.Ala388Glu) c.487C>A c.1265C>A (p.Ala422Glu) c.1346C>A (p.Ala449Glu) c.1328C>A (p.Ala443Glu) c.1226C>A (p.Ala409Glu) n.1332-459G>T c.1406C>A (p.Ala469Glu) c.1508C>A (p.Ala503Glu) c.1448C>A (p.Ala483Glu) n.3607-459G>T n.4043-459G>T c.1331C>A (p.Ala444Glu) c.1349C>A (p.Ala450Glu) c.1106C>A (p.Ala369Glu) c.1139C>A (p.Ala380Glu) c.1157C>A (p.Ala386Glu) | |
2 | g.127428723C= | CA1286884605 | PROC | c.1163C= (p.Ala388=) c.487C= c.1265C= (p.Ala422=) c.1346C= (p.Ala449=) c.1328C= (p.Ala443=) c.1226C= (p.Ala409=) n.1332-459G= c.1406C= (p.Ala469=) c.1508C= (p.Ala503=) c.1448C= (p.Ala483=) n.3607-459G= n.4043-459G= c.1331C= (p.Ala444=) c.1349C= (p.Ala450=) c.1106C= (p.Ala369=) c.1139C= (p.Ala380=) c.1157C= (p.Ala386=) | |
2 | g.127428723C>G | CA1859534 | PROC | c.1163C>G (p.Ala388Gly) c.487C>G c.1265C>G (p.Ala422Gly) c.1346C>G (p.Ala449Gly) c.1328C>G (p.Ala443Gly) c.1226C>G (p.Ala409Gly) n.1332-459G>C c.1406C>G (p.Ala469Gly) c.1508C>G (p.Ala503Gly) c.1448C>G (p.Ala483Gly) n.3607-459G>C n.4043-459G>C c.1331C>G (p.Ala444Gly) c.1349C>G (p.Ala450Gly) c.1106C>G (p.Ala369Gly) c.1139C>G (p.Ala380Gly) c.1157C>G (p.Ala386Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428723C>T | CA55351245 | PROC | c.1163C>T (p.Ala388Val) c.487C>T c.1265C>T (p.Ala422Val) c.1346C>T (p.Ala449Val) c.1328C>T (p.Ala443Val) c.1226C>T (p.Ala409Val) n.1332-459G>A c.1406C>T (p.Ala469Val) c.1508C>T (p.Ala503Val) c.1448C>T (p.Ala483Val) n.3607-459G>A n.4043-459G>A c.1331C>T (p.Ala444Val) c.1349C>T (p.Ala450Val) c.1106C>T (p.Ala369Val) c.1139C>T (p.Ala380Val) c.1157C>T (p.Ala386Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428724G>A | CA1859535 | PROC | c.1164G>A (p.Ala388=) c.488G>A c.1266G>A (p.Ala422=) c.1347G>A (p.Ala449=) c.1329G>A (p.Ala443=) c.1227G>A (p.Ala409=) n.1332-460C>T c.1407G>A (p.Ala469=) c.1509G>A (p.Ala503=) c.1449G>A (p.Ala483=) n.3607-460C>T n.4043-460C>T c.1332G>A (p.Ala444=) c.1350G>A (p.Ala450=) c.1107G>A (p.Ala369=) c.1140G>A (p.Ala380=) c.1158G>A (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428724G>C | CA428873411 | PROC | c.1164G>C (p.Ala388=) c.488G>C c.1266G>C (p.Ala422=) c.1347G>C (p.Ala449=) c.1329G>C (p.Ala443=) c.1227G>C (p.Ala409=) n.1332-460C>G c.1407G>C (p.Ala469=) c.1509G>C (p.Ala503=) c.1449G>C (p.Ala483=) n.3607-460C>G n.4043-460C>G c.1332G>C (p.Ala444=) c.1350G>C (p.Ala450=) c.1107G>C (p.Ala369=) c.1140G>C (p.Ala380=) c.1158G>C (p.Ala386=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428724G= | CA1286884606 | PROC | c.1164G= (p.Ala388=) c.488G= c.1266G= (p.Ala422=) c.1347G= (p.Ala449=) c.1329G= (p.Ala443=) c.1227G= (p.Ala409=) n.1332-460C= c.1407G= (p.Ala469=) c.1509G= (p.Ala503=) c.1449G= (p.Ala483=) n.3607-460C= n.4043-460C= c.1332G= (p.Ala444=) c.1350G= (p.Ala450=) c.1107G= (p.Ala369=) c.1140G= (p.Ala380=) c.1158G= (p.Ala386=) | |
2 | g.127428724G>T | CA428873413 | PROC | c.1164G>T (p.Ala388=) c.488G>T c.1266G>T (p.Ala422=) c.1347G>T (p.Ala449=) c.1329G>T (p.Ala443=) c.1227G>T (p.Ala409=) n.1332-460C>A c.1407G>T (p.Ala469=) c.1509G>T (p.Ala503=) c.1449G>T (p.Ala483=) n.3607-460C>A n.4043-460C>A c.1332G>T (p.Ala444=) c.1350G>T (p.Ala450=) c.1107G>T (p.Ala369=) c.1140G>T (p.Ala380=) c.1158G>T (p.Ala386=) | |
2 | g.127428725G>A | CA348406092 | PROC | c.1165G>A (p.Gly389Ser) c.489G>A c.1267G>A (p.Gly423Ser) c.1348G>A (p.Gly450Ser) c.1330G>A (p.Gly444Ser) c.1228G>A (p.Gly410Ser) n.1332-461C>T c.1408G>A (p.Gly470Ser) c.1510G>A (p.Gly504Ser) c.1450G>A (p.Gly484Ser) n.3607-461C>T n.4043-461C>T c.1333G>A (p.Gly445Ser) c.1351G>A (p.Gly451Ser) c.1108G>A (p.Gly370Ser) c.1141G>A (p.Gly381Ser) c.1159G>A (p.Gly387Ser) | |
2 | g.127428725G>C | CA348406094 | PROC | c.1165G>C (p.Gly389Arg) c.489G>C c.1267G>C (p.Gly423Arg) c.1348G>C (p.Gly450Arg) c.1330G>C (p.Gly444Arg) c.1228G>C (p.Gly410Arg) n.1332-461C>G c.1408G>C (p.Gly470Arg) c.1510G>C (p.Gly504Arg) c.1450G>C (p.Gly484Arg) n.3607-461C>G n.4043-461C>G c.1333G>C (p.Gly445Arg) c.1351G>C (p.Gly451Arg) c.1108G>C (p.Gly370Arg) c.1141G>C (p.Gly381Arg) c.1159G>C (p.Gly387Arg) | |
2 | g.127428725G>T | CA348406095 | PROC | c.1165G>T (p.Gly389Cys) c.489G>T c.1267G>T (p.Gly423Cys) c.1348G>T (p.Gly450Cys) c.1330G>T (p.Gly444Cys) c.1228G>T (p.Gly410Cys) n.1332-461C>A c.1408G>T (p.Gly470Cys) c.1510G>T (p.Gly504Cys) c.1450G>T (p.Gly484Cys) n.3607-461C>A n.4043-461C>A c.1333G>T (p.Gly445Cys) c.1351G>T (p.Gly451Cys) c.1108G>T (p.Gly370Cys) c.1141G>T (p.Gly381Cys) c.1159G>T (p.Gly387Cys) | |
2 | g.127428725_127428728delinsGGCA | CA1286884607 | PROC | c.1165_1168delinsGGCA (p.Gly389=) c.489_492delinsGGCA c.1267_1270delinsGGCA (p.Gly423=) c.1348_1351delinsGGCA (p.Gly450=) c.1330_1333delinsGGCA (p.Gly444=) c.1228_1231delinsGGCA (p.Gly410=) n.1332-464_1332-461delinsTGCC c.1408_1411delinsGGCA (p.Gly470=) c.1510_1513delinsGGCA (p.Gly504=) c.1450_1453delinsGGCA (p.Gly484=) n.3607-464_3607-461delinsTGCC n.4043-464_4043-461delinsTGCC c.1333_1336delinsGGCA (p.Gly445=) c.1351_1354delinsGGCA (p.Gly451=) c.1108_1111delinsGGCA (p.Gly370=) c.1141_1144delinsGGCA (p.Gly381=) c.1159_1162delinsGGCA (p.Gly387=) | |
2 | g.127428726G>A | CA348406096 | PROC | c.1166G>A (p.Gly389Asp) c.490G>A c.1268G>A (p.Gly423Asp) c.1349G>A (p.Gly450Asp) c.1331G>A (p.Gly444Asp) c.1229G>A (p.Gly410Asp) n.1332-462C>T c.1409G>A (p.Gly470Asp) c.1511G>A (p.Gly504Asp) c.1451G>A (p.Gly484Asp) n.3607-462C>T n.4043-462C>T c.1334G>A (p.Gly445Asp) c.1352G>A (p.Gly451Asp) c.1109G>A (p.Gly370Asp) c.1142G>A (p.Gly381Asp) c.1160G>A (p.Gly387Asp) | |
2 | g.127428726G>C | CA348406097 | PROC | c.1166G>C (p.Gly389Ala) c.490G>C c.1268G>C (p.Gly423Ala) c.1349G>C (p.Gly450Ala) c.1331G>C (p.Gly444Ala) c.1229G>C (p.Gly410Ala) n.1332-462C>G c.1409G>C (p.Gly470Ala) c.1511G>C (p.Gly504Ala) c.1451G>C (p.Gly484Ala) n.3607-462C>G n.4043-462C>G c.1334G>C (p.Gly445Ala) c.1352G>C (p.Gly451Ala) c.1109G>C (p.Gly370Ala) c.1142G>C (p.Gly381Ala) c.1160G>C (p.Gly387Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.127428726G= | CA1286884608 | PROC | c.1166G= (p.Gly389=) c.490G= c.1268G= (p.Gly423=) c.1349G= (p.Gly450=) c.1331G= (p.Gly444=) c.1229G= (p.Gly410=) n.1332-462C= c.1409G= (p.Gly470=) c.1511G= (p.Gly504=) c.1451G= (p.Gly484=) n.3607-462C= n.4043-462C= c.1334G= (p.Gly445=) c.1352G= (p.Gly451=) c.1109G= (p.Gly370=) c.1142G= (p.Gly381=) c.1160G= (p.Gly387=) | |
2 | g.127428726G>T | CA348406098 | PROC | c.1166G>T (p.Gly389Val) c.490G>T c.1268G>T (p.Gly423Val) c.1349G>T (p.Gly450Val) c.1331G>T (p.Gly444Val) c.1229G>T (p.Gly410Val) n.1332-462C>A c.1409G>T (p.Gly470Val) c.1511G>T (p.Gly504Val) c.1451G>T (p.Gly484Val) n.3607-462C>A n.4043-462C>A c.1334G>T (p.Gly445Val) c.1352G>T (p.Gly451Val) c.1109G>T (p.Gly370Val) c.1142G>T (p.Gly381Val) c.1160G>T (p.Gly387Val) | |
2 | g.127428726_127428728del | CA536067747 | PROC | c.1166_1168del (p.Gly389_Ile390delinsVal) c.490_492del c.1268_1270del (p.Gly423_Ile424delinsVal) c.1349_1351del (p.Gly450_Ile451delinsVal) c.1331_1333del (p.Gly444_Ile445delinsVal) c.1229_1231del (p.Gly410_Ile411delinsVal) n.1332-464_1332-462del c.1409_1411del (p.Gly470_Ile471delinsVal) c.1511_1513del (p.Gly504_Ile505delinsVal) c.1451_1453del (p.Gly484_Ile485delinsVal) n.3607-464_3607-462del n.4043-464_4043-462del c.1334_1336del (p.Gly445_Ile446delinsVal) c.1352_1354del (p.Gly451_Ile452delinsVal) c.1109_1111del (p.Gly370_Ile371delinsVal) c.1142_1144del (p.Gly381_Ile382delinsVal) c.1160_1162del (p.Gly387_Ile388delinsVal) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428727C>A | CA428873425 | PROC | c.1167C>A (p.Gly389=) c.491C>A c.1269C>A (p.Gly423=) c.1350C>A (p.Gly450=) c.1332C>A (p.Gly444=) c.1230C>A (p.Gly410=) n.1332-463G>T c.1410C>A (p.Gly470=) c.1512C>A (p.Gly504=) c.1452C>A (p.Gly484=) n.3607-463G>T n.4043-463G>T c.1335C>A (p.Gly445=) c.1353C>A (p.Gly451=) c.1110C>A (p.Gly370=) c.1143C>A (p.Gly381=) c.1161C>A (p.Gly387=) | |
2 | g.127428727C>G | CA428873426 | PROC | c.1167C>G (p.Gly389=) c.491C>G c.1269C>G (p.Gly423=) c.1350C>G (p.Gly450=) c.1332C>G (p.Gly444=) c.1230C>G (p.Gly410=) n.1332-463G>C c.1410C>G (p.Gly470=) c.1512C>G (p.Gly504=) c.1452C>G (p.Gly484=) n.3607-463G>C n.4043-463G>C c.1335C>G (p.Gly445=) c.1353C>G (p.Gly451=) c.1110C>G (p.Gly370=) c.1143C>G (p.Gly381=) c.1161C>G (p.Gly387=) | |
2 | g.127428727C>T | CA428873428 | PROC | c.1167C>T (p.Gly389=) c.491C>T c.1269C>T (p.Gly423=) c.1350C>T (p.Gly450=) c.1332C>T (p.Gly444=) c.1230C>T (p.Gly410=) n.1332-463G>A c.1410C>T (p.Gly470=) c.1512C>T (p.Gly504=) c.1452C>T (p.Gly484=) n.3607-463G>A n.4043-463G>A c.1335C>T (p.Gly445=) c.1353C>T (p.Gly451=) c.1110C>T (p.Gly370=) c.1143C>T (p.Gly381=) c.1161C>T (p.Gly387=) | |
2 | g.127428728A>C | CA348406104 | PROC | c.1168A>C (p.Ile390Leu) c.492A>C c.1270A>C (p.Ile424Leu) c.1351A>C (p.Ile451Leu) c.1333A>C (p.Ile445Leu) c.1231A>C (p.Ile411Leu) n.1332-464T>G c.1411A>C (p.Ile471Leu) c.1513A>C (p.Ile505Leu) c.1453A>C (p.Ile485Leu) n.3607-464T>G n.4043-464T>G c.1336A>C (p.Ile446Leu) c.1354A>C (p.Ile452Leu) c.1111A>C (p.Ile371Leu) c.1144A>C (p.Ile382Leu) c.1162A>C (p.Ile388Leu) | |
2 | g.127428728A>G | CA348406105 | PROC | c.1168A>G (p.Ile390Val) c.492A>G c.1270A>G (p.Ile424Val) c.1351A>G (p.Ile451Val) c.1333A>G (p.Ile445Val) c.1231A>G (p.Ile411Val) n.1332-464T>C c.1411A>G (p.Ile471Val) c.1513A>G (p.Ile505Val) c.1453A>G (p.Ile485Val) n.3607-464T>C n.4043-464T>C c.1336A>G (p.Ile446Val) c.1354A>G (p.Ile452Val) c.1111A>G (p.Ile371Val) c.1144A>G (p.Ile382Val) c.1162A>G (p.Ile388Val) | |
2 | g.127428728A>T | CA348406110 | PROC | c.1168A>T (p.Ile390Phe) c.492A>T c.1270A>T (p.Ile424Phe) c.1351A>T (p.Ile451Phe) c.1333A>T (p.Ile445Phe) c.1231A>T (p.Ile411Phe) n.1332-464T>A c.1411A>T (p.Ile471Phe) c.1513A>T (p.Ile505Phe) c.1453A>T (p.Ile485Phe) n.3607-464T>A n.4043-464T>A c.1336A>T (p.Ile446Phe) c.1354A>T (p.Ile452Phe) c.1111A>T (p.Ile371Phe) c.1144A>T (p.Ile382Phe) c.1162A>T (p.Ile388Phe) | |
2 | g.127428729T>A | CA55351258 | PROC | c.1169T>A (p.Ile390Asn) c.493T>A c.1271T>A (p.Ile424Asn) c.1352T>A (p.Ile451Asn) c.1334T>A (p.Ile445Asn) c.1232T>A (p.Ile411Asn) n.1332-465A>T c.1412T>A (p.Ile471Asn) c.1514T>A (p.Ile505Asn) c.1454T>A (p.Ile485Asn) n.3607-465A>T n.4043-465A>T c.1337T>A (p.Ile446Asn) c.1355T>A (p.Ile452Asn) c.1112T>A (p.Ile371Asn) c.1145T>A (p.Ile382Asn) c.1163T>A (p.Ile388Asn) | dbSNP gnomAD v4 |
2 | g.127428729T>C | CA348406113 | PROC | c.1169T>C (p.Ile390Thr) c.493T>C c.1271T>C (p.Ile424Thr) c.1352T>C (p.Ile451Thr) c.1334T>C (p.Ile445Thr) c.1232T>C (p.Ile411Thr) n.1332-465A>G c.1412T>C (p.Ile471Thr) c.1514T>C (p.Ile505Thr) c.1454T>C (p.Ile485Thr) n.3607-465A>G n.4043-465A>G c.1337T>C (p.Ile446Thr) c.1355T>C (p.Ile452Thr) c.1112T>C (p.Ile371Thr) c.1145T>C (p.Ile382Thr) c.1163T>C (p.Ile388Thr) | |
2 | g.127428729T>G | CA348406114 | PROC | c.1169T>G (p.Ile390Ser) c.493T>G c.1271T>G (p.Ile424Ser) c.1352T>G (p.Ile451Ser) c.1334T>G (p.Ile445Ser) c.1232T>G (p.Ile411Ser) n.1332-465A>C c.1412T>G (p.Ile471Ser) c.1514T>G (p.Ile505Ser) c.1454T>G (p.Ile485Ser) n.3607-465A>C n.4043-465A>C c.1337T>G (p.Ile446Ser) c.1355T>G (p.Ile452Ser) c.1112T>G (p.Ile371Ser) c.1145T>G (p.Ile382Ser) c.1163T>G (p.Ile388Ser) | |
2 | g.127428729T= | CA1286884609 | PROC | c.1169T= (p.Ile390=) c.493T= c.1271T= (p.Ile424=) c.1352T= (p.Ile451=) c.1334T= (p.Ile445=) c.1232T= (p.Ile411=) n.1332-465A= c.1412T= (p.Ile471=) c.1514T= (p.Ile505=) c.1454T= (p.Ile485=) n.3607-465A= n.4043-465A= c.1337T= (p.Ile446=) c.1355T= (p.Ile452=) c.1112T= (p.Ile371=) c.1145T= (p.Ile382=) c.1163T= (p.Ile388=) | |
2 | g.127428730C>A | CA428873443 | PROC | c.1170C>A (p.Ile390=) c.494C>A c.1272C>A (p.Ile424=) c.1353C>A (p.Ile451=) c.1335C>A (p.Ile445=) c.1233C>A (p.Ile411=) n.1332-466G>T c.1413C>A (p.Ile471=) c.1515C>A (p.Ile505=) c.1455C>A (p.Ile485=) n.3607-466G>T n.4043-466G>T c.1338C>A (p.Ile446=) c.1356C>A (p.Ile452=) c.1113C>A (p.Ile371=) c.1146C>A (p.Ile382=) c.1164C>A (p.Ile388=) | dbSNP |
2 | g.127428730C= | CA1286884610 | PROC | c.1170C= (p.Ile390=) c.494C= c.1272C= (p.Ile424=) c.1353C= (p.Ile451=) c.1335C= (p.Ile445=) c.1233C= (p.Ile411=) n.1332-466G= c.1413C= (p.Ile471=) c.1515C= (p.Ile505=) c.1455C= (p.Ile485=) n.3607-466G= n.4043-466G= c.1338C= (p.Ile446=) c.1356C= (p.Ile452=) c.1113C= (p.Ile371=) c.1146C= (p.Ile382=) c.1164C= (p.Ile388=) | |
2 | g.127428730C>G | CA348406115 | PROC | c.1170C>G (p.Ile390Met) c.494C>G c.1272C>G (p.Ile424Met) c.1353C>G (p.Ile451Met) c.1335C>G (p.Ile445Met) c.1233C>G (p.Ile411Met) n.1332-466G>C c.1413C>G (p.Ile471Met) c.1515C>G (p.Ile505Met) c.1455C>G (p.Ile485Met) n.3607-466G>C n.4043-466G>C c.1338C>G (p.Ile446Met) c.1356C>G (p.Ile452Met) c.1113C>G (p.Ile371Met) c.1146C>G (p.Ile382Met) c.1164C>G (p.Ile388Met) | |
2 | g.127428730C>T | CA428873448 | PROC | c.1170C>T (p.Ile390=) c.494C>T c.1272C>T (p.Ile424=) c.1353C>T (p.Ile451=) c.1335C>T (p.Ile445=) c.1233C>T (p.Ile411=) n.1332-466G>A c.1413C>T (p.Ile471=) c.1515C>T (p.Ile505=) c.1455C>T (p.Ile485=) n.3607-466G>A n.4043-466G>A c.1338C>T (p.Ile446=) c.1356C>T (p.Ile452=) c.1113C>T (p.Ile371=) c.1146C>T (p.Ile382=) c.1164C>T (p.Ile388=) | |
2 | g.127428731C>A | CA348406116 | PROC | c.1171C>A (p.Leu391Ile) c.495C>A c.1273C>A (p.Leu425Ile) c.1354C>A (p.Leu452Ile) c.1336C>A (p.Leu446Ile) c.1234C>A (p.Leu412Ile) n.1332-467G>T c.1414C>A (p.Leu472Ile) c.1516C>A (p.Leu506Ile) c.1456C>A (p.Leu486Ile) n.3607-467G>T n.4043-467G>T c.1339C>A (p.Leu447Ile) c.1357C>A (p.Leu453Ile) c.1114C>A (p.Leu372Ile) c.1147C>A (p.Leu383Ile) c.1165C>A (p.Leu389Ile) | dbSNP gnomAD v4 |
2 | g.127428731C= | CA1286884611 | PROC | c.1171C= (p.Leu391=) c.495C= c.1273C= (p.Leu425=) c.1354C= (p.Leu452=) c.1336C= (p.Leu446=) c.1234C= (p.Leu412=) n.1332-467G= c.1414C= (p.Leu472=) c.1516C= (p.Leu506=) c.1456C= (p.Leu486=) n.3607-467G= n.4043-467G= c.1339C= (p.Leu447=) c.1357C= (p.Leu453=) c.1114C= (p.Leu372=) c.1147C= (p.Leu383=) c.1165C= (p.Leu389=) | |
2 | g.127428731C>G | CA348406119 | PROC | c.1171C>G (p.Leu391Val) c.495C>G c.1273C>G (p.Leu425Val) c.1354C>G (p.Leu452Val) c.1336C>G (p.Leu446Val) c.1234C>G (p.Leu412Val) n.1332-467G>C c.1414C>G (p.Leu472Val) c.1516C>G (p.Leu506Val) c.1456C>G (p.Leu486Val) n.3607-467G>C n.4043-467G>C c.1339C>G (p.Leu447Val) c.1357C>G (p.Leu453Val) c.1114C>G (p.Leu372Val) c.1147C>G (p.Leu383Val) c.1165C>G (p.Leu389Val) | gnomAD v4 |
2 | g.127428731C>T | CA348406117 | PROC | c.1171C>T (p.Leu391Phe) c.495C>T c.1273C>T (p.Leu425Phe) c.1354C>T (p.Leu452Phe) c.1336C>T (p.Leu446Phe) c.1234C>T (p.Leu412Phe) n.1332-467G>A c.1414C>T (p.Leu472Phe) c.1516C>T (p.Leu506Phe) c.1456C>T (p.Leu486Phe) n.3607-467G>A n.4043-467G>A c.1339C>T (p.Leu447Phe) c.1357C>T (p.Leu453Phe) c.1114C>T (p.Leu372Phe) c.1147C>T (p.Leu383Phe) c.1165C>T (p.Leu389Phe) | |
2 | g.127428732T>A | CA348406121 | PROC | c.1172T>A (p.Leu391His) c.496T>A c.1274T>A (p.Leu425His) c.1355T>A (p.Leu452His) c.1337T>A (p.Leu446His) c.1235T>A (p.Leu412His) n.1332-468A>T c.1415T>A (p.Leu472His) c.1517T>A (p.Leu506His) c.1457T>A (p.Leu486His) n.3607-468A>T n.4043-468A>T c.1340T>A (p.Leu447His) c.1358T>A (p.Leu453His) c.1115T>A (p.Leu372His) c.1148T>A (p.Leu383His) c.1166T>A (p.Leu389His) | |
2 | g.127428732T>C | CA348406122 | PROC | c.1172T>C (p.Leu391Pro) c.496T>C c.1274T>C (p.Leu425Pro) c.1355T>C (p.Leu452Pro) c.1337T>C (p.Leu446Pro) c.1235T>C (p.Leu412Pro) n.1332-468A>G c.1415T>C (p.Leu472Pro) c.1517T>C (p.Leu506Pro) c.1457T>C (p.Leu486Pro) n.3607-468A>G n.4043-468A>G c.1340T>C (p.Leu447Pro) c.1358T>C (p.Leu453Pro) c.1115T>C (p.Leu372Pro) c.1148T>C (p.Leu383Pro) c.1166T>C (p.Leu389Pro) | |
2 | g.127428732T>G | CA348406123 | PROC | c.1172T>G (p.Leu391Arg) c.496T>G c.1274T>G (p.Leu425Arg) c.1355T>G (p.Leu452Arg) c.1337T>G (p.Leu446Arg) c.1235T>G (p.Leu412Arg) n.1332-468A>C c.1415T>G (p.Leu472Arg) c.1517T>G (p.Leu506Arg) c.1457T>G (p.Leu486Arg) n.3607-468A>C n.4043-468A>C c.1340T>G (p.Leu447Arg) c.1358T>G (p.Leu453Arg) c.1115T>G (p.Leu372Arg) c.1148T>G (p.Leu383Arg) c.1166T>G (p.Leu389Arg) | |
2 | g.127428733C>A | CA428873461 | PROC | c.1173C>A (p.Leu391=) c.497C>A c.1275C>A (p.Leu425=) c.1356C>A (p.Leu452=) c.1338C>A (p.Leu446=) c.1236C>A (p.Leu412=) n.1332-469G>T c.1416C>A (p.Leu472=) c.1518C>A (p.Leu506=) c.1458C>A (p.Leu486=) n.3607-469G>T n.4043-469G>T c.1341C>A (p.Leu447=) c.1359C>A (p.Leu453=) c.1116C>A (p.Leu372=) c.1149C>A (p.Leu383=) c.1167C>A (p.Leu389=) | |
2 | g.127428733C= | CA1286884612 | PROC | c.1173C= (p.Leu391=) c.497C= c.1275C= (p.Leu425=) c.1356C= (p.Leu452=) c.1338C= (p.Leu446=) c.1236C= (p.Leu412=) n.1332-469G= c.1416C= (p.Leu472=) c.1518C= (p.Leu506=) c.1458C= (p.Leu486=) n.3607-469G= n.4043-469G= c.1341C= (p.Leu447=) c.1359C= (p.Leu453=) c.1116C= (p.Leu372=) c.1149C= (p.Leu383=) c.1167C= (p.Leu389=) | |
2 | g.127428733C>G | CA428873464 | PROC | c.1173C>G (p.Leu391=) c.497C>G c.1275C>G (p.Leu425=) c.1356C>G (p.Leu452=) c.1338C>G (p.Leu446=) c.1236C>G (p.Leu412=) n.1332-469G>C c.1416C>G (p.Leu472=) c.1518C>G (p.Leu506=) c.1458C>G (p.Leu486=) n.3607-469G>C n.4043-469G>C c.1341C>G (p.Leu447=) c.1359C>G (p.Leu453=) c.1116C>G (p.Leu372=) c.1149C>G (p.Leu383=) c.1167C>G (p.Leu389=) | |
2 | g.127428733C>T | CA428873468 | PROC | c.1173C>T (p.Leu391=) c.497C>T c.1275C>T (p.Leu425=) c.1356C>T (p.Leu452=) c.1338C>T (p.Leu446=) c.1236C>T (p.Leu412=) n.1332-469G>A c.1416C>T (p.Leu472=) c.1518C>T (p.Leu506=) c.1458C>T (p.Leu486=) n.3607-469G>A n.4043-469G>A c.1341C>T (p.Leu447=) c.1359C>T (p.Leu453=) c.1116C>T (p.Leu372=) c.1149C>T (p.Leu383=) c.1167C>T (p.Leu389=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.127428734G>A | CA1859537 | PROC | c.1174G>A (p.Gly392Arg) c.498G>A c.1276G>A (p.Gly426Arg) c.1357G>A (p.Gly453Arg) c.1339G>A (p.Gly447Arg) c.1237G>A (p.Gly413Arg) n.1332-470C>T c.1417G>A (p.Gly473Arg) c.1519G>A (p.Gly507Arg) c.1459G>A (p.Gly487Arg) n.3607-470C>T n.4043-470C>T c.1342G>A (p.Gly448Arg) c.1360G>A (p.Gly454Arg) c.1117G>A (p.Gly373Arg) c.1150G>A (p.Gly384Arg) c.1168G>A (p.Gly390Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428734G>C | CA1859536 | PROC | c.1174G>C (p.Gly392Arg) c.498G>C c.1276G>C (p.Gly426Arg) c.1357G>C (p.Gly453Arg) c.1339G>C (p.Gly447Arg) c.1237G>C (p.Gly413Arg) n.1332-470C>G c.1417G>C (p.Gly473Arg) c.1519G>C (p.Gly507Arg) c.1459G>C (p.Gly487Arg) n.3607-470C>G n.4043-470C>G c.1342G>C (p.Gly448Arg) c.1360G>C (p.Gly454Arg) c.1117G>C (p.Gly373Arg) c.1150G>C (p.Gly384Arg) c.1168G>C (p.Gly390Arg) | dbSNP ExAC gnomAD v2 |
2 | g.127428734G= | CA1286884613 | PROC | c.1174G= (p.Gly392=) c.498G= c.1276G= (p.Gly426=) c.1357G= (p.Gly453=) c.1339G= (p.Gly447=) c.1237G= (p.Gly413=) n.1332-470C= c.1417G= (p.Gly473=) c.1519G= (p.Gly507=) c.1459G= (p.Gly487=) n.3607-470C= n.4043-470C= c.1342G= (p.Gly448=) c.1360G= (p.Gly454=) c.1117G= (p.Gly373=) c.1150G= (p.Gly384=) c.1168G= (p.Gly390=) | |
2 | g.127428734G>T | CA348406126 | PROC | c.1174G>T (p.Gly392Trp) c.498G>T c.1276G>T (p.Gly426Trp) c.1357G>T (p.Gly453Trp) c.1339G>T (p.Gly447Trp) c.1237G>T (p.Gly413Trp) n.1332-470C>A c.1417G>T (p.Gly473Trp) c.1519G>T (p.Gly507Trp) c.1459G>T (p.Gly487Trp) n.3607-470C>A n.4043-470C>A c.1342G>T (p.Gly448Trp) c.1360G>T (p.Gly454Trp) c.1117G>T (p.Gly373Trp) c.1150G>T (p.Gly384Trp) c.1168G>T (p.Gly390Trp) | |
2 | g.127428735G>A | CA348406128 | PROC | c.1175G>A (p.Gly392Glu) c.499G>A c.1277G>A (p.Gly426Glu) c.1358G>A (p.Gly453Glu) c.1340G>A (p.Gly447Glu) c.1238G>A (p.Gly413Glu) n.1332-471C>T c.1418G>A (p.Gly473Glu) c.1520G>A (p.Gly507Glu) c.1460G>A (p.Gly487Glu) n.3607-471C>T n.4043-471C>T c.1343G>A (p.Gly448Glu) c.1361G>A (p.Gly454Glu) c.1118G>A (p.Gly373Glu) c.1151G>A (p.Gly384Glu) c.1169G>A (p.Gly390Glu) | COSMIC COSMIC |
2 | g.127428735G>C | CA348406130 | PROC | c.1175G>C (p.Gly392Ala) c.499G>C c.1277G>C (p.Gly426Ala) c.1358G>C (p.Gly453Ala) c.1340G>C (p.Gly447Ala) c.1238G>C (p.Gly413Ala) n.1332-471C>G c.1418G>C (p.Gly473Ala) c.1520G>C (p.Gly507Ala) c.1460G>C (p.Gly487Ala) n.3607-471C>G n.4043-471C>G c.1343G>C (p.Gly448Ala) c.1361G>C (p.Gly454Ala) c.1118G>C (p.Gly373Ala) c.1151G>C (p.Gly384Ala) c.1169G>C (p.Gly390Ala) | |
2 | g.127428735G= | CA1286884614 | PROC | c.1175G= (p.Gly392=) c.499G= c.1277G= (p.Gly426=) c.1358G= (p.Gly453=) c.1340G= (p.Gly447=) c.1238G= (p.Gly413=) n.1332-471C= c.1418G= (p.Gly473=) c.1520G= (p.Gly507=) c.1460G= (p.Gly487=) n.3607-471C= n.4043-471C= c.1343G= (p.Gly448=) c.1361G= (p.Gly454=) c.1118G= (p.Gly373=) c.1151G= (p.Gly384=) c.1169G= (p.Gly390=) | |
2 | g.127428735G>T | CA55351295 | PROC | c.1175G>T (p.Gly392Val) c.499G>T c.1277G>T (p.Gly426Val) c.1358G>T (p.Gly453Val) c.1340G>T (p.Gly447Val) c.1238G>T (p.Gly413Val) n.1332-471C>A c.1418G>T (p.Gly473Val) c.1520G>T (p.Gly507Val) c.1460G>T (p.Gly487Val) n.3607-471C>A n.4043-471C>A c.1343G>T (p.Gly448Val) c.1361G>T (p.Gly454Val) c.1118G>T (p.Gly373Val) c.1151G>T (p.Gly384Val) c.1169G>T (p.Gly390Val) | dbSNP |
2 | g.127428736G>A | CA428873476 | PROC | c.1176G>A (p.Gly392=) c.500G>A c.1278G>A (p.Gly426=) c.1359G>A (p.Gly453=) c.1341G>A (p.Gly447=) c.1239G>A (p.Gly413=) n.1332-472C>T c.1419G>A (p.Gly473=) c.1521G>A (p.Gly507=) c.1461G>A (p.Gly487=) n.3607-472C>T n.4043-472C>T c.1344G>A (p.Gly448=) c.1362G>A (p.Gly454=) c.1119G>A (p.Gly373=) c.1152G>A (p.Gly384=) c.1170G>A (p.Gly390=) | dbSNP gnomAD v4 |
2 | g.127428736G>C | CA428873479 | PROC | c.1176G>C (p.Gly392=) c.500G>C c.1278G>C (p.Gly426=) c.1359G>C (p.Gly453=) c.1341G>C (p.Gly447=) c.1239G>C (p.Gly413=) n.1332-472C>G c.1419G>C (p.Gly473=) c.1521G>C (p.Gly507=) c.1461G>C (p.Gly487=) n.3607-472C>G n.4043-472C>G c.1344G>C (p.Gly448=) c.1362G>C (p.Gly454=) c.1119G>C (p.Gly373=) c.1152G>C (p.Gly384=) c.1170G>C (p.Gly390=) | |
2 | g.127428736G= | CA1286884615 | PROC | c.1176G= (p.Gly392=) c.500G= c.1278G= (p.Gly426=) c.1359G= (p.Gly453=) c.1341G= (p.Gly447=) c.1239G= (p.Gly413=) n.1332-472C= c.1419G= (p.Gly473=) c.1521G= (p.Gly507=) c.1461G= (p.Gly487=) n.3607-472C= n.4043-472C= c.1344G= (p.Gly448=) c.1362G= (p.Gly454=) c.1119G= (p.Gly373=) c.1152G= (p.Gly384=) c.1170G= (p.Gly390=) | |
2 | g.127428736G>T | CA428873486 | PROC | c.1176G>T (p.Gly392=) c.500G>T c.1278G>T (p.Gly426=) c.1359G>T (p.Gly453=) c.1341G>T (p.Gly447=) c.1239G>T (p.Gly413=) n.1332-472C>A c.1419G>T (p.Gly473=) c.1521G>T (p.Gly507=) c.1461G>T (p.Gly487=) n.3607-472C>A n.4043-472C>A c.1344G>T (p.Gly448=) c.1362G>T (p.Gly454=) c.1119G>T (p.Gly373=) c.1152G>T (p.Gly384=) c.1170G>T (p.Gly390=) | |
2 | g.127428737G>A | CA55351296 | PROC | c.1177G>A (p.Asp393Asn) c.501G>A c.1279G>A (p.Asp427Asn) c.1360G>A (p.Asp454Asn) c.1342G>A (p.Asp448Asn) c.1240G>A (p.Asp414Asn) n.1332-473C>T c.1420G>A (p.Asp474Asn) c.1522G>A (p.Asp508Asn) c.1462G>A (p.Asp488Asn) n.3607-473C>T n.4043-473C>T c.1345G>A (p.Asp449Asn) c.1363G>A (p.Asp455Asn) c.1120G>A (p.Asp374Asn) c.1153G>A (p.Asp385Asn) c.1171G>A (p.Asp391Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428737G>C | CA348406133 | PROC | c.1177G>C (p.Asp393His) c.501G>C c.1279G>C (p.Asp427His) c.1360G>C (p.Asp454His) c.1342G>C (p.Asp448His) c.1240G>C (p.Asp414His) n.1332-473C>G c.1420G>C (p.Asp474His) c.1522G>C (p.Asp508His) c.1462G>C (p.Asp488His) n.3607-473C>G n.4043-473C>G c.1345G>C (p.Asp449His) c.1363G>C (p.Asp455His) c.1120G>C (p.Asp374His) c.1153G>C (p.Asp385His) c.1171G>C (p.Asp391His) | |
2 | g.127428737G= | CA1286884616 | PROC | c.1177G= (p.Asp393=) c.501G= c.1279G= (p.Asp427=) c.1360G= (p.Asp454=) c.1342G= (p.Asp448=) c.1240G= (p.Asp414=) n.1332-473C= c.1420G= (p.Asp474=) c.1522G= (p.Asp508=) c.1462G= (p.Asp488=) n.3607-473C= n.4043-473C= c.1345G= (p.Asp449=) c.1363G= (p.Asp455=) c.1120G= (p.Asp374=) c.1153G= (p.Asp385=) c.1171G= (p.Asp391=) | |
2 | g.127428737G>T | CA348406134 | PROC | c.1177G>T (p.Asp393Tyr) c.501G>T c.1279G>T (p.Asp427Tyr) c.1360G>T (p.Asp454Tyr) c.1342G>T (p.Asp448Tyr) c.1240G>T (p.Asp414Tyr) n.1332-473C>A c.1420G>T (p.Asp474Tyr) c.1522G>T (p.Asp508Tyr) c.1462G>T (p.Asp488Tyr) n.3607-473C>A n.4043-473C>A c.1345G>T (p.Asp449Tyr) c.1363G>T (p.Asp455Tyr) c.1120G>T (p.Asp374Tyr) c.1153G>T (p.Asp385Tyr) c.1171G>T (p.Asp391Tyr) | |
2 | g.127428738A>C | CA348406139 | PROC | c.1178A>C (p.Asp393Ala) c.502A>C c.1280A>C (p.Asp427Ala) c.1361A>C (p.Asp454Ala) c.1343A>C (p.Asp448Ala) c.1241A>C (p.Asp414Ala) n.1332-474T>G c.1421A>C (p.Asp474Ala) c.1523A>C (p.Asp508Ala) c.1463A>C (p.Asp488Ala) n.3607-474T>G n.4043-474T>G c.1346A>C (p.Asp449Ala) c.1364A>C (p.Asp455Ala) c.1121A>C (p.Asp374Ala) c.1154A>C (p.Asp385Ala) c.1172A>C (p.Asp391Ala) | |
2 | g.127428738A>G | CA348406136 | PROC | c.1178A>G (p.Asp393Gly) c.502A>G c.1280A>G (p.Asp427Gly) c.1361A>G (p.Asp454Gly) c.1343A>G (p.Asp448Gly) c.1241A>G (p.Asp414Gly) n.1332-474T>C c.1421A>G (p.Asp474Gly) c.1523A>G (p.Asp508Gly) c.1463A>G (p.Asp488Gly) n.3607-474T>C n.4043-474T>C c.1346A>G (p.Asp449Gly) c.1364A>G (p.Asp455Gly) c.1121A>G (p.Asp374Gly) c.1154A>G (p.Asp385Gly) c.1172A>G (p.Asp391Gly) | |
2 | g.127428738A>T | CA348406137 | PROC | c.1178A>T (p.Asp393Val) c.502A>T c.1280A>T (p.Asp427Val) c.1361A>T (p.Asp454Val) c.1343A>T (p.Asp448Val) c.1241A>T (p.Asp414Val) n.1332-474T>A c.1421A>T (p.Asp474Val) c.1523A>T (p.Asp508Val) c.1463A>T (p.Asp488Val) n.3607-474T>A n.4043-474T>A c.1346A>T (p.Asp449Val) c.1364A>T (p.Asp455Val) c.1121A>T (p.Asp374Val) c.1154A>T (p.Asp385Val) c.1172A>T (p.Asp391Val) | |
2 | g.127428739C>A | CA348406141 | PROC | c.1179C>A (p.Asp393Glu) c.503C>A c.1281C>A (p.Asp427Glu) c.1362C>A (p.Asp454Glu) c.1344C>A (p.Asp448Glu) c.1242C>A (p.Asp414Glu) n.1332-475G>T c.1422C>A (p.Asp474Glu) c.1524C>A (p.Asp508Glu) c.1464C>A (p.Asp488Glu) n.3607-475G>T n.4043-475G>T c.1347C>A (p.Asp449Glu) c.1365C>A (p.Asp455Glu) c.1122C>A (p.Asp374Glu) c.1155C>A (p.Asp385Glu) c.1173C>A (p.Asp391Glu) | |
2 | g.127428739C= | CA1286884617 | PROC | c.1179C= (p.Asp393=) c.503C= c.1281C= (p.Asp427=) c.1362C= (p.Asp454=) c.1344C= (p.Asp448=) c.1242C= (p.Asp414=) n.1332-475G= c.1422C= (p.Asp474=) c.1524C= (p.Asp508=) c.1464C= (p.Asp488=) n.3607-475G= n.4043-475G= c.1347C= (p.Asp449=) c.1365C= (p.Asp455=) c.1122C= (p.Asp374=) c.1155C= (p.Asp385=) c.1173C= (p.Asp391=) | |
2 | g.127428739C>G | CA348406143 | PROC | c.1179C>G (p.Asp393Glu) c.503C>G c.1281C>G (p.Asp427Glu) c.1362C>G (p.Asp454Glu) c.1344C>G (p.Asp448Glu) c.1242C>G (p.Asp414Glu) n.1332-475G>C c.1422C>G (p.Asp474Glu) c.1524C>G (p.Asp508Glu) c.1464C>G (p.Asp488Glu) n.3607-475G>C n.4043-475G>C c.1347C>G (p.Asp449Glu) c.1365C>G (p.Asp455Glu) c.1122C>G (p.Asp374Glu) c.1155C>G (p.Asp385Glu) c.1173C>G (p.Asp391Glu) | |
2 | g.127428739C>T | CA1859538 | PROC | c.1179C>T (p.Asp393=) c.503C>T c.1281C>T (p.Asp427=) c.1362C>T (p.Asp454=) c.1344C>T (p.Asp448=) c.1242C>T (p.Asp414=) n.1332-475G>A c.1422C>T (p.Asp474=) c.1524C>T (p.Asp508=) c.1464C>T (p.Asp488=) n.3607-475G>A n.4043-475G>A c.1347C>T (p.Asp449=) c.1365C>T (p.Asp455=) c.1122C>T (p.Asp374=) c.1155C>T (p.Asp385=) c.1173C>T (p.Asp391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428739_127428740insA | CA1286884618 | PROC | c.1179_1180insA (p.Arg394ThrfsTer?) c.503_504insA c.1281_1282insA (p.Arg428ThrfsTer?) c.1362_1363insA (p.Arg455ThrfsTer?) c.1344_1345insA (p.Arg449ThrfsTer?) c.1242_1243insA (p.Arg415ThrfsTer?) n.1332-476_1332-475insT c.1422_1423insA (p.Arg475ThrfsTer?) c.1524_1525insA (p.Arg509ThrfsTer?) c.1464_1465insA (p.Arg489ThrfsTer?) n.3607-476_3607-475insT n.4043-476_4043-475insT c.1347_1348insA (p.Arg450ThrfsTer?) c.1365_1366insA (p.Arg456ThrfsTer?) c.1122_1123insA (p.Arg375ThrfsTer?) c.1155_1156insA (p.Arg386ThrfsTer?) c.1173_1174insA (p.Arg392ThrfsTer?) | dbSNP |
2 | g.127428740C>A | CA428872174 | PROC | c.1180C>A (p.Arg394=) c.504C>A c.1282C>A (p.Arg428=) c.1363C>A (p.Arg455=) c.1345C>A (p.Arg449=) c.1243C>A (p.Arg415=) n.1332-476G>T c.1423C>A (p.Arg475=) c.1525C>A (p.Arg509=) c.1465C>A (p.Arg489=) n.3607-476G>T n.4043-476G>T c.1348C>A (p.Arg450=) c.1366C>A (p.Arg456=) c.1123C>A (p.Arg375=) c.1156C>A (p.Arg386=) c.1174C>A (p.Arg392=) | |
2 | g.127428740C= | CA1286884619 | PROC | c.1180C= (p.Arg394=) c.504C= c.1282C= (p.Arg428=) c.1363C= (p.Arg455=) c.1345C= (p.Arg449=) c.1243C= (p.Arg415=) n.1332-476G= c.1423C= (p.Arg475=) c.1525C= (p.Arg509=) c.1465C= (p.Arg489=) n.3607-476G= n.4043-476G= c.1348C= (p.Arg450=) c.1366C= (p.Arg456=) c.1123C= (p.Arg375=) c.1156C= (p.Arg386=) c.1174C= (p.Arg392=) | |
2 | g.127428740C>G | CA348406145 | PROC | c.1180C>G (p.Arg394Gly) c.504C>G c.1282C>G (p.Arg428Gly) c.1363C>G (p.Arg455Gly) c.1345C>G (p.Arg449Gly) c.1243C>G (p.Arg415Gly) n.1332-476G>C c.1423C>G (p.Arg475Gly) c.1525C>G (p.Arg509Gly) c.1465C>G (p.Arg489Gly) n.3607-476G>C n.4043-476G>C c.1348C>G (p.Arg450Gly) c.1366C>G (p.Arg456Gly) c.1123C>G (p.Arg375Gly) c.1156C>G (p.Arg386Gly) c.1174C>G (p.Arg392Gly) | |
2 | g.127428740C>T | CA1859539 | PROC | c.1180C>T (p.Arg394Trp) c.504C>T c.1282C>T (p.Arg428Trp) c.1363C>T (p.Arg455Trp) c.1345C>T (p.Arg449Trp) c.1243C>T (p.Arg415Trp) n.1332-476G>A c.1423C>T (p.Arg475Trp) c.1525C>T (p.Arg509Trp) c.1465C>T (p.Arg489Trp) n.3607-476G>A n.4043-476G>A c.1348C>T (p.Arg450Trp) c.1366C>T (p.Arg456Trp) c.1123C>T (p.Arg375Trp) c.1156C>T (p.Arg386Trp) c.1174C>T (p.Arg392Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428741G>A | CA1859540 | PROC | c.1181G>A (p.Arg394Gln) c.505G>A c.1283G>A (p.Arg428Gln) c.1364G>A (p.Arg455Gln) c.1346G>A (p.Arg449Gln) c.1244G>A (p.Arg415Gln) n.1332-477C>T c.1424G>A (p.Arg475Gln) c.1526G>A (p.Arg509Gln) c.1466G>A (p.Arg489Gln) n.3607-477C>T n.4043-477C>T c.1349G>A (p.Arg450Gln) c.1367G>A (p.Arg456Gln) c.1124G>A (p.Arg375Gln) c.1157G>A (p.Arg386Gln) c.1175G>A (p.Arg392Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428741G>C | CA348406150 | PROC | c.1181G>C (p.Arg394Pro) c.505G>C c.1283G>C (p.Arg428Pro) c.1364G>C (p.Arg455Pro) c.1346G>C (p.Arg449Pro) c.1244G>C (p.Arg415Pro) n.1332-477C>G c.1424G>C (p.Arg475Pro) c.1526G>C (p.Arg509Pro) c.1466G>C (p.Arg489Pro) n.3607-477C>G n.4043-477C>G c.1349G>C (p.Arg450Pro) c.1367G>C (p.Arg456Pro) c.1124G>C (p.Arg375Pro) c.1157G>C (p.Arg386Pro) c.1175G>C (p.Arg392Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428741G= | CA1286884621 | PROC | c.1181G= (p.Arg394=) c.505G= c.1283G= (p.Arg428=) c.1364G= (p.Arg455=) c.1346G= (p.Arg449=) c.1244G= (p.Arg415=) n.1332-477C= c.1424G= (p.Arg475=) c.1526G= (p.Arg509=) c.1466G= (p.Arg489=) n.3607-477C= n.4043-477C= c.1349G= (p.Arg450=) c.1367G= (p.Arg456=) c.1124G= (p.Arg375=) c.1157G= (p.Arg386=) c.1175G= (p.Arg392=) | |
2 | g.127428741G>T | CA348406152 | PROC | c.1181G>T (p.Arg394Leu) c.505G>T c.1283G>T (p.Arg428Leu) c.1364G>T (p.Arg455Leu) c.1346G>T (p.Arg449Leu) c.1244G>T (p.Arg415Leu) n.1332-477C>A c.1424G>T (p.Arg475Leu) c.1526G>T (p.Arg509Leu) c.1466G>T (p.Arg489Leu) n.3607-477C>A n.4043-477C>A c.1349G>T (p.Arg450Leu) c.1367G>T (p.Arg456Leu) c.1124G>T (p.Arg375Leu) c.1157G>T (p.Arg386Leu) c.1175G>T (p.Arg392Leu) | dbSNP gnomAD v4 |
2 | g.127428741_127428743delinsGGC | CA1286884620 | PROC | c.1181_1183delinsGGC (p.Arg394=) c.505_507delinsGGC c.1283_1285delinsGGC (p.Arg428=) c.1364_1366delinsGGC (p.Arg455=) c.1346_1348delinsGGC (p.Arg449=) c.1244_1246delinsGGC (p.Arg415=) n.1332-479_1332-477delinsGCC c.1424_1426delinsGGC (p.Arg475=) c.1526_1528delinsGGC (p.Arg509=) c.1466_1468delinsGGC (p.Arg489=) n.3607-479_3607-477delinsGCC n.4043-479_4043-477delinsGCC c.1349_1351delinsGGC (p.Arg450=) c.1367_1369delinsGGC (p.Arg456=) c.1124_1126delinsGGC (p.Arg375=) c.1157_1159delinsGGC (p.Arg386=) c.1175_1177delinsGGC (p.Arg392=) | |
2 | g.127428742G>A | CA428872182 | PROC | c.1182G>A (p.Arg394=) c.506G>A c.1284G>A (p.Arg428=) c.1365G>A (p.Arg455=) c.1347G>A (p.Arg449=) c.1245G>A (p.Arg415=) n.1332-478C>T c.1425G>A (p.Arg475=) c.1527G>A (p.Arg509=) c.1467G>A (p.Arg489=) n.3607-478C>T n.4043-478C>T c.1350G>A (p.Arg450=) c.1368G>A (p.Arg456=) c.1125G>A (p.Arg375=) c.1158G>A (p.Arg386=) c.1176G>A (p.Arg392=) | gnomAD v4 |
2 | g.127428742G>C | CA428872184 | PROC | c.1182G>C (p.Arg394=) c.506G>C c.1284G>C (p.Arg428=) c.1365G>C (p.Arg455=) c.1347G>C (p.Arg449=) c.1245G>C (p.Arg415=) n.1332-478C>G c.1425G>C (p.Arg475=) c.1527G>C (p.Arg509=) c.1467G>C (p.Arg489=) n.3607-478C>G n.4043-478C>G c.1350G>C (p.Arg450=) c.1368G>C (p.Arg456=) c.1125G>C (p.Arg375=) c.1158G>C (p.Arg386=) c.1176G>C (p.Arg392=) | |
2 | g.127428742G>T | CA428872186 | PROC | c.1182G>T (p.Arg394=) c.506G>T c.1284G>T (p.Arg428=) c.1365G>T (p.Arg455=) c.1347G>T (p.Arg449=) c.1245G>T (p.Arg415=) n.1332-478C>A c.1425G>T (p.Arg475=) c.1527G>T (p.Arg509=) c.1467G>T (p.Arg489=) n.3607-478C>A n.4043-478C>A c.1350G>T (p.Arg450=) c.1368G>T (p.Arg456=) c.1125G>T (p.Arg375=) c.1158G>T (p.Arg386=) c.1176G>T (p.Arg392=) | |
2 | g.127428742_127428743del | CA1286884622 | PROC | c.1182_1183del (p.Gln395GlyfsTer29) c.506_507del c.1284_1285del (p.Gln429GlyfsTer29) c.1365_1366del (p.Gln456GlyfsTer29) c.1347_1348del (p.Gln450GlyfsTer29) c.1245_1246del (p.Gln416GlyfsTer29) n.1332-479_1332-478del c.1425_1426del (p.Gln476GlyfsTer29) c.1527_1528del (p.Gln510GlyfsTer29) c.1467_1468del (p.Gln490GlyfsTer29) n.3607-479_3607-478del n.4043-479_4043-478del c.1350_1351del (p.Gln451GlyfsTer29) c.1368_1369del (p.Gln457GlyfsTer29) c.1125_1126del (p.Gln376GlyfsTer29) c.1158_1159del (p.Gln387GlyfsTer29) c.1176_1177del (p.Gln393GlyfsTer29) | dbSNP |
2 | g.127428743C>A | CA348406154 | PROC | c.1183C>A (p.Gln395Lys) c.507C>A c.1285C>A (p.Gln429Lys) c.1366C>A (p.Gln456Lys) c.1348C>A (p.Gln450Lys) c.1246C>A (p.Gln416Lys) n.1332-479G>T c.1426C>A (p.Gln476Lys) c.1528C>A (p.Gln510Lys) c.1468C>A (p.Gln490Lys) n.3607-479G>T n.4043-479G>T c.1351C>A (p.Gln451Lys) c.1369C>A (p.Gln457Lys) c.1126C>A (p.Gln376Lys) c.1159C>A (p.Gln387Lys) c.1177C>A (p.Gln393Lys) | |
2 | g.127428743C= | CA1286884623 | PROC | c.1183C= (p.Gln395=) c.507C= c.1285C= (p.Gln429=) c.1366C= (p.Gln456=) c.1348C= (p.Gln450=) c.1246C= (p.Gln416=) n.1332-479G= c.1426C= (p.Gln476=) c.1528C= (p.Gln510=) c.1468C= (p.Gln490=) n.3607-479G= n.4043-479G= c.1351C= (p.Gln451=) c.1369C= (p.Gln457=) c.1126C= (p.Gln376=) c.1159C= (p.Gln387=) c.1177C= (p.Gln393=) | |
2 | g.127428743C>G | CA348406156 | PROC | c.1183C>G (p.Gln395Glu) c.507C>G c.1285C>G (p.Gln429Glu) c.1366C>G (p.Gln456Glu) c.1348C>G (p.Gln450Glu) c.1246C>G (p.Gln416Glu) n.1332-479G>C c.1426C>G (p.Gln476Glu) c.1528C>G (p.Gln510Glu) c.1468C>G (p.Gln490Glu) n.3607-479G>C n.4043-479G>C c.1351C>G (p.Gln451Glu) c.1369C>G (p.Gln457Glu) c.1126C>G (p.Gln376Glu) c.1159C>G (p.Gln387Glu) c.1177C>G (p.Gln393Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428743C>T | CA348406158 | PROC | c.1183C>T (p.Gln395Ter) c.507C>T c.1285C>T (p.Gln429Ter) c.1366C>T (p.Gln456Ter) c.1348C>T (p.Gln450Ter) c.1246C>T (p.Gln416Ter) n.1332-479G>A c.1426C>T (p.Gln476Ter) c.1528C>T (p.Gln510Ter) c.1468C>T (p.Gln490Ter) n.3607-479G>A n.4043-479G>A c.1351C>T (p.Gln451Ter) c.1369C>T (p.Gln457Ter) c.1126C>T (p.Gln376Ter) c.1159C>T (p.Gln387Ter) c.1177C>T (p.Gln393Ter) | |
2 | g.127428744A= | CA1286884624 | PROC | c.1184A= (p.Gln395=) c.508A= c.1286A= (p.Gln429=) c.1367A= (p.Gln456=) c.1349A= (p.Gln450=) c.1247A= (p.Gln416=) n.1332-480T= c.1427A= (p.Gln476=) c.1529A= (p.Gln510=) c.1469A= (p.Gln490=) n.3607-480T= n.4043-480T= c.1352A= (p.Gln451=) c.1370A= (p.Gln457=) c.1127A= (p.Gln376=) c.1160A= (p.Gln387=) c.1178A= (p.Gln393=) | |
2 | g.127428744A>C | CA348406159 | PROC | c.1184A>C (p.Gln395Pro) c.508A>C c.1286A>C (p.Gln429Pro) c.1367A>C (p.Gln456Pro) c.1349A>C (p.Gln450Pro) c.1247A>C (p.Gln416Pro) n.1332-480T>G c.1427A>C (p.Gln476Pro) c.1529A>C (p.Gln510Pro) c.1469A>C (p.Gln490Pro) n.3607-480T>G n.4043-480T>G c.1352A>C (p.Gln451Pro) c.1370A>C (p.Gln457Pro) c.1127A>C (p.Gln376Pro) c.1160A>C (p.Gln387Pro) c.1178A>C (p.Gln393Pro) | |
2 | g.127428744A>G | CA1859541 | PROC | c.1184A>G (p.Gln395Arg) c.508A>G c.1286A>G (p.Gln429Arg) c.1367A>G (p.Gln456Arg) c.1349A>G (p.Gln450Arg) c.1247A>G (p.Gln416Arg) n.1332-480T>C c.1427A>G (p.Gln476Arg) c.1529A>G (p.Gln510Arg) c.1469A>G (p.Gln490Arg) n.3607-480T>C n.4043-480T>C c.1352A>G (p.Gln451Arg) c.1370A>G (p.Gln457Arg) c.1127A>G (p.Gln376Arg) c.1160A>G (p.Gln387Arg) c.1178A>G (p.Gln393Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428744A>T | CA348406160 | PROC | c.1184A>T (p.Gln395Leu) c.508A>T c.1286A>T (p.Gln429Leu) c.1367A>T (p.Gln456Leu) c.1349A>T (p.Gln450Leu) c.1247A>T (p.Gln416Leu) n.1332-480T>A c.1427A>T (p.Gln476Leu) c.1529A>T (p.Gln510Leu) c.1469A>T (p.Gln490Leu) n.3607-480T>A n.4043-480T>A c.1352A>T (p.Gln451Leu) c.1370A>T (p.Gln457Leu) c.1127A>T (p.Gln376Leu) c.1160A>T (p.Gln387Leu) c.1178A>T (p.Gln393Leu) | |
2 | g.127428745G>A | CA428872199 | PROC | c.1185G>A (p.Gln395=) c.509G>A c.1287G>A (p.Gln429=) c.1368G>A (p.Gln456=) c.1350G>A (p.Gln450=) c.1248G>A (p.Gln416=) n.1332-481C>T c.1428G>A (p.Gln476=) c.1530G>A (p.Gln510=) c.1470G>A (p.Gln490=) n.3607-481C>T n.4043-481C>T c.1353G>A (p.Gln451=) c.1371G>A (p.Gln457=) c.1128G>A (p.Gln376=) c.1161G>A (p.Gln387=) c.1179G>A (p.Gln393=) | gnomAD v4 |
2 | g.127428745G>C | CA348406162 | PROC | c.1185G>C (p.Gln395His) c.509G>C c.1287G>C (p.Gln429His) c.1368G>C (p.Gln456His) c.1350G>C (p.Gln450His) c.1248G>C (p.Gln416His) n.1332-481C>G c.1428G>C (p.Gln476His) c.1530G>C (p.Gln510His) c.1470G>C (p.Gln490His) n.3607-481C>G n.4043-481C>G c.1353G>C (p.Gln451His) c.1371G>C (p.Gln457His) c.1128G>C (p.Gln376His) c.1161G>C (p.Gln387His) c.1179G>C (p.Gln393His) | |
2 | g.127428745G= | CA1286884625 | PROC | c.1185G= (p.Gln395=) c.509G= c.1287G= (p.Gln429=) c.1368G= (p.Gln456=) c.1350G= (p.Gln450=) c.1248G= (p.Gln416=) n.1332-481C= c.1428G= (p.Gln476=) c.1530G= (p.Gln510=) c.1470G= (p.Gln490=) n.3607-481C= n.4043-481C= c.1353G= (p.Gln451=) c.1371G= (p.Gln457=) c.1128G= (p.Gln376=) c.1161G= (p.Gln387=) c.1179G= (p.Gln393=) | |
2 | g.127428745G>T | CA348406163 | PROC | c.1185G>T (p.Gln395His) c.509G>T c.1287G>T (p.Gln429His) c.1368G>T (p.Gln456His) c.1350G>T (p.Gln450His) c.1248G>T (p.Gln416His) n.1332-481C>A c.1428G>T (p.Gln476His) c.1530G>T (p.Gln510His) c.1470G>T (p.Gln490His) n.3607-481C>A n.4043-481C>A c.1353G>T (p.Gln451His) c.1371G>T (p.Gln457His) c.1128G>T (p.Gln376His) c.1161G>T (p.Gln387His) c.1179G>T (p.Gln393His) | |
2 | g.127428745_127428746insA | CA1286884626 | PROC | c.1185_1186insA (p.Asp396ArgfsTer29) c.509_510insA c.1287_1288insA (p.Asp430ArgfsTer29) c.1368_1369insA (p.Asp457ArgfsTer29) c.1350_1351insA (p.Asp451ArgfsTer29) c.1248_1249insA (p.Asp417ArgfsTer29) n.1332-482_1332-481insT c.1428_1429insA (p.Asp477ArgfsTer29) c.1530_1531insA (p.Asp511ArgfsTer29) c.1470_1471insA (p.Asp491ArgfsTer29) n.3607-482_3607-481insT n.4043-482_4043-481insT c.1353_1354insA (p.Asp452ArgfsTer29) c.1371_1372insA (p.Asp458ArgfsTer29) c.1128_1129insA (p.Asp377ArgfsTer29) c.1161_1162insA (p.Asp388ArgfsTer29) c.1179_1180insA (p.Asp394ArgfsTer29) | dbSNP |
2 | g.127428746G>A | CA348406165 | PROC | c.1186G>A (p.Asp396Asn) c.510G>A c.1288G>A (p.Asp430Asn) c.1369G>A (p.Asp457Asn) c.1351G>A (p.Asp451Asn) c.1249G>A (p.Asp417Asn) n.1332-482C>T c.1429G>A (p.Asp477Asn) c.1531G>A (p.Asp511Asn) c.1471G>A (p.Asp491Asn) n.3607-482C>T n.4043-482C>T c.1354G>A (p.Asp452Asn) c.1372G>A (p.Asp458Asn) c.1129G>A (p.Asp377Asn) c.1162G>A (p.Asp388Asn) c.1180G>A (p.Asp394Asn) | |
2 | g.127428746G>C | CA348406169 | PROC | c.1186G>C (p.Asp396His) c.510G>C c.1288G>C (p.Asp430His) c.1369G>C (p.Asp457His) c.1351G>C (p.Asp451His) c.1249G>C (p.Asp417His) n.1332-482C>G c.1429G>C (p.Asp477His) c.1531G>C (p.Asp511His) c.1471G>C (p.Asp491His) n.3607-482C>G n.4043-482C>G c.1354G>C (p.Asp452His) c.1372G>C (p.Asp458His) c.1129G>C (p.Asp377His) c.1162G>C (p.Asp388His) c.1180G>C (p.Asp394His) | |
2 | g.127428746G>T | CA348406166 | PROC | c.1186G>T (p.Asp396Tyr) c.510G>T c.1288G>T (p.Asp430Tyr) c.1369G>T (p.Asp457Tyr) c.1351G>T (p.Asp451Tyr) c.1249G>T (p.Asp417Tyr) n.1332-482C>A c.1429G>T (p.Asp477Tyr) c.1531G>T (p.Asp511Tyr) c.1471G>T (p.Asp491Tyr) n.3607-482C>A n.4043-482C>A c.1354G>T (p.Asp452Tyr) c.1372G>T (p.Asp458Tyr) c.1129G>T (p.Asp377Tyr) c.1162G>T (p.Asp388Tyr) c.1180G>T (p.Asp394Tyr) | |
2 | g.127428747A>C | CA348406171 | PROC | c.1187A>C (p.Asp396Ala) c.511A>C c.1289A>C (p.Asp430Ala) c.1370A>C (p.Asp457Ala) c.1352A>C (p.Asp451Ala) c.1250A>C (p.Asp417Ala) n.1332-483T>G c.1430A>C (p.Asp477Ala) c.1532A>C (p.Asp511Ala) c.1472A>C (p.Asp491Ala) n.3607-483T>G n.4043-483T>G c.1355A>C (p.Asp452Ala) c.1373A>C (p.Asp458Ala) c.1130A>C (p.Asp377Ala) c.1163A>C (p.Asp388Ala) c.1181A>C (p.Asp394Ala) | |
2 | g.127428747A>G | CA348406174 | PROC | c.1187A>G (p.Asp396Gly) c.511A>G c.1289A>G (p.Asp430Gly) c.1370A>G (p.Asp457Gly) c.1352A>G (p.Asp451Gly) c.1250A>G (p.Asp417Gly) n.1332-483T>C c.1430A>G (p.Asp477Gly) c.1532A>G (p.Asp511Gly) c.1472A>G (p.Asp491Gly) n.3607-483T>C n.4043-483T>C c.1355A>G (p.Asp452Gly) c.1373A>G (p.Asp458Gly) c.1130A>G (p.Asp377Gly) c.1163A>G (p.Asp388Gly) c.1181A>G (p.Asp394Gly) | |
2 | g.127428747A>T | CA348406172 | PROC | c.1187A>T (p.Asp396Val) c.511A>T c.1289A>T (p.Asp430Val) c.1370A>T (p.Asp457Val) c.1352A>T (p.Asp451Val) c.1250A>T (p.Asp417Val) n.1332-483T>A c.1430A>T (p.Asp477Val) c.1532A>T (p.Asp511Val) c.1472A>T (p.Asp491Val) n.3607-483T>A n.4043-483T>A c.1355A>T (p.Asp452Val) c.1373A>T (p.Asp458Val) c.1130A>T (p.Asp377Val) c.1163A>T (p.Asp388Val) c.1181A>T (p.Asp394Val) | |
2 | g.127428748T>A | CA348406176 | PROC | c.1188T>A (p.Asp396Glu) c.512T>A c.1290T>A (p.Asp430Glu) c.1371T>A (p.Asp457Glu) c.1353T>A (p.Asp451Glu) c.1251T>A (p.Asp417Glu) n.1332-484A>T c.1431T>A (p.Asp477Glu) c.1533T>A (p.Asp511Glu) c.1473T>A (p.Asp491Glu) n.3607-484A>T n.4043-484A>T c.1356T>A (p.Asp452Glu) c.1374T>A (p.Asp458Glu) c.1131T>A (p.Asp377Glu) c.1164T>A (p.Asp388Glu) c.1182T>A (p.Asp394Glu) | |
2 | g.127428748T>C | CA428872268 | PROC | c.1188T>C (p.Asp396=) c.512T>C c.1290T>C (p.Asp430=) c.1371T>C (p.Asp457=) c.1353T>C (p.Asp451=) c.1251T>C (p.Asp417=) n.1332-484A>G c.1431T>C (p.Asp477=) c.1533T>C (p.Asp511=) c.1473T>C (p.Asp491=) n.3607-484A>G n.4043-484A>G c.1356T>C (p.Asp452=) c.1374T>C (p.Asp458=) c.1131T>C (p.Asp377=) c.1164T>C (p.Asp388=) c.1182T>C (p.Asp394=) | dbSNP gnomAD v4 |
2 | g.127428748T>G | CA348406178 | PROC | c.1188T>G (p.Asp396Glu) c.512T>G c.1290T>G (p.Asp430Glu) c.1371T>G (p.Asp457Glu) c.1353T>G (p.Asp451Glu) c.1251T>G (p.Asp417Glu) n.1332-484A>C c.1431T>G (p.Asp477Glu) c.1533T>G (p.Asp511Glu) c.1473T>G (p.Asp491Glu) n.3607-484A>C n.4043-484A>C c.1356T>G (p.Asp452Glu) c.1374T>G (p.Asp458Glu) c.1131T>G (p.Asp377Glu) c.1164T>G (p.Asp388Glu) c.1182T>G (p.Asp394Glu) | |
2 | g.127428748T= | CA1286884627 | PROC | c.1188T= (p.Asp396=) c.512T= c.1290T= (p.Asp430=) c.1371T= (p.Asp457=) c.1353T= (p.Asp451=) c.1251T= (p.Asp417=) n.1332-484A= c.1431T= (p.Asp477=) c.1533T= (p.Asp511=) c.1473T= (p.Asp491=) n.3607-484A= n.4043-484A= c.1356T= (p.Asp452=) c.1374T= (p.Asp458=) c.1131T= (p.Asp377=) c.1164T= (p.Asp388=) c.1182T= (p.Asp394=) | |
2 | g.127428749G>A | CA348406180 | PROC | c.1189G>A (p.Ala397Thr) c.513G>A c.1291G>A (p.Ala431Thr) c.1372G>A (p.Ala458Thr) c.1354G>A (p.Ala452Thr) c.1252G>A (p.Ala418Thr) n.1332-485C>T c.1432G>A (p.Ala478Thr) c.1534G>A (p.Ala512Thr) c.1474G>A (p.Ala492Thr) n.3607-485C>T n.4043-485C>T c.1357G>A (p.Ala453Thr) c.1375G>A (p.Ala459Thr) c.1132G>A (p.Ala378Thr) c.1165G>A (p.Ala389Thr) c.1183G>A (p.Ala395Thr) | COSMIC |
2 | g.127428749G>C | CA348406181 | PROC | c.1189G>C (p.Ala397Pro) c.513G>C c.1291G>C (p.Ala431Pro) c.1372G>C (p.Ala458Pro) c.1354G>C (p.Ala452Pro) c.1252G>C (p.Ala418Pro) n.1332-485C>G c.1432G>C (p.Ala478Pro) c.1534G>C (p.Ala512Pro) c.1474G>C (p.Ala492Pro) n.3607-485C>G n.4043-485C>G c.1357G>C (p.Ala453Pro) c.1375G>C (p.Ala459Pro) c.1132G>C (p.Ala378Pro) c.1165G>C (p.Ala389Pro) c.1183G>C (p.Ala395Pro) | |
2 | g.127428749G>T | CA348406183 | PROC | c.1189G>T (p.Ala397Ser) c.513G>T c.1291G>T (p.Ala431Ser) c.1372G>T (p.Ala458Ser) c.1354G>T (p.Ala452Ser) c.1252G>T (p.Ala418Ser) n.1332-485C>A c.1432G>T (p.Ala478Ser) c.1534G>T (p.Ala512Ser) c.1474G>T (p.Ala492Ser) n.3607-485C>A n.4043-485C>A c.1357G>T (p.Ala453Ser) c.1375G>T (p.Ala459Ser) c.1132G>T (p.Ala378Ser) c.1165G>T (p.Ala389Ser) c.1183G>T (p.Ala395Ser) | |
2 | g.127428750C>A | CA348406185 | PROC | c.1190C>A (p.Ala397Asp) c.514C>A c.1292C>A (p.Ala431Asp) c.1373C>A (p.Ala458Asp) c.1355C>A (p.Ala452Asp) c.1253C>A (p.Ala418Asp) n.1332-486G>T c.1433C>A (p.Ala478Asp) c.1535C>A (p.Ala512Asp) c.1475C>A (p.Ala492Asp) n.3607-486G>T n.4043-486G>T c.1358C>A (p.Ala453Asp) c.1376C>A (p.Ala459Asp) c.1133C>A (p.Ala378Asp) c.1166C>A (p.Ala389Asp) c.1184C>A (p.Ala395Asp) | |
2 | g.127428750C= | CA1286884628 | PROC | c.1190C= (p.Ala397=) c.514C= c.1292C= (p.Ala431=) c.1373C= (p.Ala458=) c.1355C= (p.Ala452=) c.1253C= (p.Ala418=) n.1332-486G= c.1433C= (p.Ala478=) c.1535C= (p.Ala512=) c.1475C= (p.Ala492=) n.3607-486G= n.4043-486G= c.1358C= (p.Ala453=) c.1376C= (p.Ala459=) c.1133C= (p.Ala378=) c.1166C= (p.Ala389=) c.1184C= (p.Ala395=) | |
2 | g.127428750C>G | CA348406187 | PROC | c.1190C>G (p.Ala397Gly) c.514C>G c.1292C>G (p.Ala431Gly) c.1373C>G (p.Ala458Gly) c.1355C>G (p.Ala452Gly) c.1253C>G (p.Ala418Gly) n.1332-486G>C c.1433C>G (p.Ala478Gly) c.1535C>G (p.Ala512Gly) c.1475C>G (p.Ala492Gly) n.3607-486G>C n.4043-486G>C c.1358C>G (p.Ala453Gly) c.1376C>G (p.Ala459Gly) c.1133C>G (p.Ala378Gly) c.1166C>G (p.Ala389Gly) c.1184C>G (p.Ala395Gly) | |
2 | g.127428750C>T | CA348406189 | PROC | c.1190C>T (p.Ala397Val) c.514C>T c.1292C>T (p.Ala431Val) c.1373C>T (p.Ala458Val) c.1355C>T (p.Ala452Val) c.1253C>T (p.Ala418Val) n.1332-486G>A c.1433C>T (p.Ala478Val) c.1535C>T (p.Ala512Val) c.1475C>T (p.Ala492Val) n.3607-486G>A n.4043-486G>A c.1358C>T (p.Ala453Val) c.1376C>T (p.Ala459Val) c.1133C>T (p.Ala378Val) c.1166C>T (p.Ala389Val) c.1184C>T (p.Ala395Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428751C>A | CA428872307 | PROC | c.1191C>A (p.Ala397=) c.515C>A c.1293C>A (p.Ala431=) c.1374C>A (p.Ala458=) c.1356C>A (p.Ala452=) c.1254C>A (p.Ala418=) n.1332-487G>T c.1434C>A (p.Ala478=) c.1536C>A (p.Ala512=) c.1476C>A (p.Ala492=) n.3607-487G>T n.4043-487G>T c.1359C>A (p.Ala453=) c.1377C>A (p.Ala459=) c.1134C>A (p.Ala378=) c.1167C>A (p.Ala389=) c.1185C>A (p.Ala395=) | COSMIC COSMIC |
2 | g.127428751C>G | CA428872311 | PROC | c.1191C>G (p.Ala397=) c.515C>G c.1293C>G (p.Ala431=) c.1374C>G (p.Ala458=) c.1356C>G (p.Ala452=) c.1254C>G (p.Ala418=) n.1332-487G>C c.1434C>G (p.Ala478=) c.1536C>G (p.Ala512=) c.1476C>G (p.Ala492=) n.3607-487G>C n.4043-487G>C c.1359C>G (p.Ala453=) c.1377C>G (p.Ala459=) c.1134C>G (p.Ala378=) c.1167C>G (p.Ala389=) c.1185C>G (p.Ala395=) | |
2 | g.127428751C>T | CA428872313 | PROC | c.1191C>T (p.Ala397=) c.515C>T c.1293C>T (p.Ala431=) c.1374C>T (p.Ala458=) c.1356C>T (p.Ala452=) c.1254C>T (p.Ala418=) n.1332-487G>A c.1434C>T (p.Ala478=) c.1536C>T (p.Ala512=) c.1476C>T (p.Ala492=) n.3607-487G>A n.4043-487G>A c.1359C>T (p.Ala453=) c.1377C>T (p.Ala459=) c.1134C>T (p.Ala378=) c.1167C>T (p.Ala389=) c.1185C>T (p.Ala395=) | |
2 | g.127428752T>A | CA348406191 | PROC | c.1192T>A (p.Cys398Ser) c.516T>A c.1294T>A (p.Cys432Ser) c.1375T>A (p.Cys459Ser) c.1357T>A (p.Cys453Ser) c.1255T>A (p.Cys419Ser) n.1332-488A>T c.1435T>A (p.Cys479Ser) c.1537T>A (p.Cys513Ser) c.1477T>A (p.Cys493Ser) n.3607-488A>T n.4043-488A>T c.1360T>A (p.Cys454Ser) c.1378T>A (p.Cys460Ser) c.1135T>A (p.Cys379Ser) c.1168T>A (p.Cys390Ser) c.1186T>A (p.Cys396Ser) | |
2 | g.127428752T>C | CA348406192 | PROC | c.1192T>C (p.Cys398Arg) c.516T>C c.1294T>C (p.Cys432Arg) c.1375T>C (p.Cys459Arg) c.1357T>C (p.Cys453Arg) c.1255T>C (p.Cys419Arg) n.1332-488A>G c.1435T>C (p.Cys479Arg) c.1537T>C (p.Cys513Arg) c.1477T>C (p.Cys493Arg) n.3607-488A>G n.4043-488A>G c.1360T>C (p.Cys454Arg) c.1378T>C (p.Cys460Arg) c.1135T>C (p.Cys379Arg) c.1168T>C (p.Cys390Arg) c.1186T>C (p.Cys396Arg) | dbSNP gnomAD v4 |
2 | g.127428752T>G | CA348406194 | PROC | c.1192T>G (p.Cys398Gly) c.516T>G c.1294T>G (p.Cys432Gly) c.1375T>G (p.Cys459Gly) c.1357T>G (p.Cys453Gly) c.1255T>G (p.Cys419Gly) n.1332-488A>C c.1435T>G (p.Cys479Gly) c.1537T>G (p.Cys513Gly) c.1477T>G (p.Cys493Gly) n.3607-488A>C n.4043-488A>C c.1360T>G (p.Cys454Gly) c.1378T>G (p.Cys460Gly) c.1135T>G (p.Cys379Gly) c.1168T>G (p.Cys390Gly) c.1186T>G (p.Cys396Gly) | |
2 | g.127428752T= | CA1286884629 | PROC | c.1192T= (p.Cys398=) c.516T= c.1294T= (p.Cys432=) c.1375T= (p.Cys459=) c.1357T= (p.Cys453=) c.1255T= (p.Cys419=) n.1332-488A= c.1435T= (p.Cys479=) c.1537T= (p.Cys513=) c.1477T= (p.Cys493=) n.3607-488A= n.4043-488A= c.1360T= (p.Cys454=) c.1378T= (p.Cys460=) c.1135T= (p.Cys379=) c.1168T= (p.Cys390=) c.1186T= (p.Cys396=) | |
2 | g.127428752dup | CA2838242445 | PROC | c.1192dup (p.Cys398LeufsTer27) c.516dup c.1294dup (p.Cys432LeufsTer27) c.1375dup (p.Cys459LeufsTer27) c.1357dup (p.Cys453LeufsTer27) c.1255dup (p.Cys419LeufsTer27) n.1332-488dup c.1435dup (p.Cys479LeufsTer27) c.1537dup (p.Cys513LeufsTer27) c.1477dup (p.Cys493LeufsTer27) n.3607-488dup n.4043-488dup c.1360dup (p.Cys454LeufsTer27) c.1378dup (p.Cys460LeufsTer27) c.1135dup (p.Cys379LeufsTer27) c.1168dup (p.Cys390LeufsTer27) c.1186dup (p.Cys396LeufsTer27) | |
2 | g.127428753G>A | CA348406197 | PROC | c.1193G>A (p.Cys398Tyr) c.517G>A c.1295G>A (p.Cys432Tyr) c.1376G>A (p.Cys459Tyr) c.1358G>A (p.Cys453Tyr) c.1256G>A (p.Cys419Tyr) n.1332-489C>T c.1436G>A (p.Cys479Tyr) c.1538G>A (p.Cys513Tyr) c.1478G>A (p.Cys493Tyr) n.3607-489C>T n.4043-489C>T c.1361G>A (p.Cys454Tyr) c.1379G>A (p.Cys460Tyr) c.1136G>A (p.Cys379Tyr) c.1169G>A (p.Cys390Tyr) c.1187G>A (p.Cys396Tyr) | |
2 | g.127428753G>C | CA348406198 | PROC | c.1193G>C (p.Cys398Ser) c.517G>C c.1295G>C (p.Cys432Ser) c.1376G>C (p.Cys459Ser) c.1358G>C (p.Cys453Ser) c.1256G>C (p.Cys419Ser) n.1332-489C>G c.1436G>C (p.Cys479Ser) c.1538G>C (p.Cys513Ser) c.1478G>C (p.Cys493Ser) n.3607-489C>G n.4043-489C>G c.1361G>C (p.Cys454Ser) c.1379G>C (p.Cys460Ser) c.1136G>C (p.Cys379Ser) c.1169G>C (p.Cys390Ser) c.1187G>C (p.Cys396Ser) | |
2 | g.127428753G>T | CA348406200 | PROC | c.1193G>T (p.Cys398Phe) c.517G>T c.1295G>T (p.Cys432Phe) c.1376G>T (p.Cys459Phe) c.1358G>T (p.Cys453Phe) c.1256G>T (p.Cys419Phe) n.1332-489C>A c.1436G>T (p.Cys479Phe) c.1538G>T (p.Cys513Phe) c.1478G>T (p.Cys493Phe) n.3607-489C>A n.4043-489C>A c.1361G>T (p.Cys454Phe) c.1379G>T (p.Cys460Phe) c.1136G>T (p.Cys379Phe) c.1169G>T (p.Cys390Phe) c.1187G>T (p.Cys396Phe) | |
2 | g.127428754C>A | CA348406204 | PROC | c.1194C>A (p.Cys398Ter) c.518C>A c.1296C>A (p.Cys432Ter) c.1377C>A (p.Cys459Ter) c.1359C>A (p.Cys453Ter) c.1257C>A (p.Cys419Ter) n.1332-490G>T c.1437C>A (p.Cys479Ter) c.1539C>A (p.Cys513Ter) c.1479C>A (p.Cys493Ter) n.3607-490G>T n.4043-490G>T c.1362C>A (p.Cys454Ter) c.1380C>A (p.Cys460Ter) c.1137C>A (p.Cys379Ter) c.1170C>A (p.Cys390Ter) c.1188C>A (p.Cys396Ter) | |
2 | g.127428754C= | CA1286884630 | PROC | c.1194C= (p.Cys398=) c.518C= c.1296C= (p.Cys432=) c.1377C= (p.Cys459=) c.1359C= (p.Cys453=) c.1257C= (p.Cys419=) n.1332-490G= c.1437C= (p.Cys479=) c.1539C= (p.Cys513=) c.1479C= (p.Cys493=) n.3607-490G= n.4043-490G= c.1362C= (p.Cys454=) c.1380C= (p.Cys460=) c.1137C= (p.Cys379=) c.1170C= (p.Cys390=) c.1188C= (p.Cys396=) | |
2 | g.127428754C>G | CA348406203 | PROC | c.1194C>G (p.Cys398Trp) c.518C>G c.1296C>G (p.Cys432Trp) c.1377C>G (p.Cys459Trp) c.1359C>G (p.Cys453Trp) c.1257C>G (p.Cys419Trp) n.1332-490G>C c.1437C>G (p.Cys479Trp) c.1539C>G (p.Cys513Trp) c.1479C>G (p.Cys493Trp) n.3607-490G>C n.4043-490G>C c.1362C>G (p.Cys454Trp) c.1380C>G (p.Cys460Trp) c.1137C>G (p.Cys379Trp) c.1170C>G (p.Cys390Trp) c.1188C>G (p.Cys396Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428754C>T | CA1859542 | PROC | c.1194C>T (p.Cys398=) c.518C>T c.1296C>T (p.Cys432=) c.1377C>T (p.Cys459=) c.1359C>T (p.Cys453=) c.1257C>T (p.Cys419=) n.1332-490G>A c.1437C>T (p.Cys479=) c.1539C>T (p.Cys513=) c.1479C>T (p.Cys493=) n.3607-490G>A n.4043-490G>A c.1362C>T (p.Cys454=) c.1380C>T (p.Cys460=) c.1137C>T (p.Cys379=) c.1170C>T (p.Cys390=) c.1188C>T (p.Cys396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428755G>A | CA1859543 | PROC | c.1195G>A (p.Glu399Lys) c.519G>A c.1297G>A (p.Glu433Lys) c.1378G>A (p.Glu460Lys) c.1360G>A (p.Glu454Lys) c.1258G>A (p.Glu420Lys) n.1332-491C>T c.1438G>A (p.Glu480Lys) c.1540G>A (p.Glu514Lys) c.1480G>A (p.Glu494Lys) n.3607-491C>T n.4043-491C>T c.1363G>A (p.Glu455Lys) c.1381G>A (p.Glu461Lys) c.1138G>A (p.Glu380Lys) c.1171G>A (p.Glu391Lys) c.1189G>A (p.Glu397Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428755G>C | CA348406207 | PROC | c.1195G>C (p.Glu399Gln) c.519G>C c.1297G>C (p.Glu433Gln) c.1378G>C (p.Glu460Gln) c.1360G>C (p.Glu454Gln) c.1258G>C (p.Glu420Gln) n.1332-491C>G c.1438G>C (p.Glu480Gln) c.1540G>C (p.Glu514Gln) c.1480G>C (p.Glu494Gln) n.3607-491C>G n.4043-491C>G c.1363G>C (p.Glu455Gln) c.1381G>C (p.Glu461Gln) c.1138G>C (p.Glu380Gln) c.1171G>C (p.Glu391Gln) c.1189G>C (p.Glu397Gln) | |
2 | g.127428755G= | CA1286884631 | PROC | c.1195G= (p.Glu399=) c.519G= c.1297G= (p.Glu433=) c.1378G= (p.Glu460=) c.1360G= (p.Glu454=) c.1258G= (p.Glu420=) n.1332-491C= c.1438G= (p.Glu480=) c.1540G= (p.Glu514=) c.1480G= (p.Glu494=) n.3607-491C= n.4043-491C= c.1363G= (p.Glu455=) c.1381G= (p.Glu461=) c.1138G= (p.Glu380=) c.1171G= (p.Glu391=) c.1189G= (p.Glu397=) | |
2 | g.127428755G>T | CA348406208 | PROC | c.1195G>T (p.Glu399Ter) c.519G>T c.1297G>T (p.Glu433Ter) c.1378G>T (p.Glu460Ter) c.1360G>T (p.Glu454Ter) c.1258G>T (p.Glu420Ter) n.1332-491C>A c.1438G>T (p.Glu480Ter) c.1540G>T (p.Glu514Ter) c.1480G>T (p.Glu494Ter) n.3607-491C>A n.4043-491C>A c.1363G>T (p.Glu455Ter) c.1381G>T (p.Glu461Ter) c.1138G>T (p.Glu380Ter) c.1171G>T (p.Glu391Ter) c.1189G>T (p.Glu397Ter) | |
2 | g.127428756A= | CA1286884632 | PROC | c.1196A= (p.Glu399=) c.520A= c.1298A= (p.Glu433=) c.1379A= (p.Glu460=) c.1361A= (p.Glu454=) c.1259A= (p.Glu420=) n.1332-492T= c.1439A= (p.Glu480=) c.1541A= (p.Glu514=) c.1481A= (p.Glu494=) n.3607-492T= n.4043-492T= c.1364A= (p.Glu455=) c.1382A= (p.Glu461=) c.1139A= (p.Glu380=) c.1172A= (p.Glu391=) c.1190A= (p.Glu397=) | |
2 | g.127428756A>C | CA1859544 | PROC | c.1196A>C (p.Glu399Ala) c.520A>C c.1298A>C (p.Glu433Ala) c.1379A>C (p.Glu460Ala) c.1361A>C (p.Glu454Ala) c.1259A>C (p.Glu420Ala) n.1332-492T>G c.1439A>C (p.Glu480Ala) c.1541A>C (p.Glu514Ala) c.1481A>C (p.Glu494Ala) n.3607-492T>G n.4043-492T>G c.1364A>C (p.Glu455Ala) c.1382A>C (p.Glu461Ala) c.1139A>C (p.Glu380Ala) c.1172A>C (p.Glu391Ala) c.1190A>C (p.Glu397Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428756A>G | CA348406210 | PROC | c.1196A>G (p.Glu399Gly) c.520A>G c.1298A>G (p.Glu433Gly) c.1379A>G (p.Glu460Gly) c.1361A>G (p.Glu454Gly) c.1259A>G (p.Glu420Gly) n.1332-492T>C c.1439A>G (p.Glu480Gly) c.1541A>G (p.Glu514Gly) c.1481A>G (p.Glu494Gly) n.3607-492T>C n.4043-492T>C c.1364A>G (p.Glu455Gly) c.1382A>G (p.Glu461Gly) c.1139A>G (p.Glu380Gly) c.1172A>G (p.Glu391Gly) c.1190A>G (p.Glu397Gly) | |
2 | g.127428756A>T | CA348406212 | PROC | c.1196A>T (p.Glu399Val) c.520A>T c.1298A>T (p.Glu433Val) c.1379A>T (p.Glu460Val) c.1361A>T (p.Glu454Val) c.1259A>T (p.Glu420Val) n.1332-492T>A c.1439A>T (p.Glu480Val) c.1541A>T (p.Glu514Val) c.1481A>T (p.Glu494Val) n.3607-492T>A n.4043-492T>A c.1364A>T (p.Glu455Val) c.1382A>T (p.Glu461Val) c.1139A>T (p.Glu380Val) c.1172A>T (p.Glu391Val) c.1190A>T (p.Glu397Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428757G>A | CA428872369 | PROC | c.1197G>A (p.Glu399=) c.521G>A c.1299G>A (p.Glu433=) c.1380G>A (p.Glu460=) c.1362G>A (p.Glu454=) c.1260G>A (p.Glu420=) n.1332-493C>T c.1440G>A (p.Glu480=) c.1542G>A (p.Glu514=) c.1482G>A (p.Glu494=) n.3607-493C>T n.4043-493C>T c.1365G>A (p.Glu455=) c.1383G>A (p.Glu461=) c.1140G>A (p.Glu380=) c.1173G>A (p.Glu391=) c.1191G>A (p.Glu397=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428757G>C | CA348406213 | PROC | c.1197G>C (p.Glu399Asp) c.521G>C c.1299G>C (p.Glu433Asp) c.1380G>C (p.Glu460Asp) c.1362G>C (p.Glu454Asp) c.1260G>C (p.Glu420Asp) n.1332-493C>G c.1440G>C (p.Glu480Asp) c.1542G>C (p.Glu514Asp) c.1482G>C (p.Glu494Asp) n.3607-493C>G n.4043-493C>G c.1365G>C (p.Glu455Asp) c.1383G>C (p.Glu461Asp) c.1140G>C (p.Glu380Asp) c.1173G>C (p.Glu391Asp) c.1191G>C (p.Glu397Asp) | |
2 | g.127428757G= | CA1286884633 | PROC | c.1197G= (p.Glu399=) c.521G= c.1299G= (p.Glu433=) c.1380G= (p.Glu460=) c.1362G= (p.Glu454=) c.1260G= (p.Glu420=) n.1332-493C= c.1440G= (p.Glu480=) c.1542G= (p.Glu514=) c.1482G= (p.Glu494=) n.3607-493C= n.4043-493C= c.1365G= (p.Glu455=) c.1383G= (p.Glu461=) c.1140G= (p.Glu380=) c.1173G= (p.Glu391=) c.1191G= (p.Glu397=) | |
2 | g.127428757G>T | CA348406215 | PROC | c.1197G>T (p.Glu399Asp) c.521G>T c.1299G>T (p.Glu433Asp) c.1380G>T (p.Glu460Asp) c.1362G>T (p.Glu454Asp) c.1260G>T (p.Glu420Asp) n.1332-493C>A c.1440G>T (p.Glu480Asp) c.1542G>T (p.Glu514Asp) c.1482G>T (p.Glu494Asp) n.3607-493C>A n.4043-493C>A c.1365G>T (p.Glu455Asp) c.1383G>T (p.Glu461Asp) c.1140G>T (p.Glu380Asp) c.1173G>T (p.Glu391Asp) c.1191G>T (p.Glu397Asp) | dbSNP |
2 | g.127428758G>A | CA348406216 | PROC | c.1198G>A (p.Gly400Ser) c.522G>A c.1300G>A (p.Gly434Ser) c.1381G>A (p.Gly461Ser) c.1363G>A (p.Gly455Ser) c.1261G>A (p.Gly421Ser) n.1332-494C>T c.1441G>A (p.Gly481Ser) c.1543G>A (p.Gly515Ser) c.1483G>A (p.Gly495Ser) n.3607-494C>T n.4043-494C>T c.1366G>A (p.Gly456Ser) c.1384G>A (p.Gly462Ser) c.1141G>A (p.Gly381Ser) c.1174G>A (p.Gly392Ser) c.1192G>A (p.Gly398Ser) | dbSNP |
2 | g.127428758G>C | CA348406217 | PROC | c.1198G>C (p.Gly400Arg) c.522G>C c.1300G>C (p.Gly434Arg) c.1381G>C (p.Gly461Arg) c.1363G>C (p.Gly455Arg) c.1261G>C (p.Gly421Arg) n.1332-494C>G c.1441G>C (p.Gly481Arg) c.1543G>C (p.Gly515Arg) c.1483G>C (p.Gly495Arg) n.3607-494C>G n.4043-494C>G c.1366G>C (p.Gly456Arg) c.1384G>C (p.Gly462Arg) c.1141G>C (p.Gly381Arg) c.1174G>C (p.Gly392Arg) c.1192G>C (p.Gly398Arg) | |
2 | g.127428758G= | CA1286884634 | PROC | c.1198G= (p.Gly400=) c.522G= c.1300G= (p.Gly434=) c.1381G= (p.Gly461=) c.1363G= (p.Gly455=) c.1261G= (p.Gly421=) n.1332-494C= c.1441G= (p.Gly481=) c.1543G= (p.Gly515=) c.1483G= (p.Gly495=) n.3607-494C= n.4043-494C= c.1366G= (p.Gly456=) c.1384G= (p.Gly462=) c.1141G= (p.Gly381=) c.1174G= (p.Gly392=) c.1192G= (p.Gly398=) | |
2 | g.127428758G>T | CA348406219 | PROC | c.1198G>T (p.Gly400Cys) c.522G>T c.1300G>T (p.Gly434Cys) c.1381G>T (p.Gly461Cys) c.1363G>T (p.Gly455Cys) c.1261G>T (p.Gly421Cys) n.1332-494C>A c.1441G>T (p.Gly481Cys) c.1543G>T (p.Gly515Cys) c.1483G>T (p.Gly495Cys) n.3607-494C>A n.4043-494C>A c.1366G>T (p.Gly456Cys) c.1384G>T (p.Gly462Cys) c.1141G>T (p.Gly381Cys) c.1174G>T (p.Gly392Cys) c.1192G>T (p.Gly398Cys) | |
2 | g.127428759G>A | CA348406222 | PROC | c.1199G>A (p.Gly400Asp) c.523G>A c.1301G>A (p.Gly434Asp) c.1382G>A (p.Gly461Asp) c.1364G>A (p.Gly455Asp) c.1262G>A (p.Gly421Asp) n.1332-495C>T c.1442G>A (p.Gly481Asp) c.1544G>A (p.Gly515Asp) c.1484G>A (p.Gly495Asp) n.3607-495C>T n.4043-495C>T c.1367G>A (p.Gly456Asp) c.1385G>A (p.Gly462Asp) c.1142G>A (p.Gly381Asp) c.1175G>A (p.Gly392Asp) c.1193G>A (p.Gly398Asp) | |
2 | g.127428759G>C | CA348406223 | PROC | c.1199G>C (p.Gly400Ala) c.523G>C c.1301G>C (p.Gly434Ala) c.1382G>C (p.Gly461Ala) c.1364G>C (p.Gly455Ala) c.1262G>C (p.Gly421Ala) n.1332-495C>G c.1442G>C (p.Gly481Ala) c.1544G>C (p.Gly515Ala) c.1484G>C (p.Gly495Ala) n.3607-495C>G n.4043-495C>G c.1367G>C (p.Gly456Ala) c.1385G>C (p.Gly462Ala) c.1142G>C (p.Gly381Ala) c.1175G>C (p.Gly392Ala) c.1193G>C (p.Gly398Ala) | gnomAD v4 |
2 | g.127428759G>T | CA348406225 | PROC | c.1199G>T (p.Gly400Val) c.523G>T c.1301G>T (p.Gly434Val) c.1382G>T (p.Gly461Val) c.1364G>T (p.Gly455Val) c.1262G>T (p.Gly421Val) n.1332-495C>A c.1442G>T (p.Gly481Val) c.1544G>T (p.Gly515Val) c.1484G>T (p.Gly495Val) n.3607-495C>A n.4043-495C>A c.1367G>T (p.Gly456Val) c.1385G>T (p.Gly462Val) c.1142G>T (p.Gly381Val) c.1175G>T (p.Gly392Val) c.1193G>T (p.Gly398Val) | |
2 | g.127428760C>A | CA428872389 | PROC | c.1200C>A (p.Gly400=) c.524C>A c.1302C>A (p.Gly434=) c.1383C>A (p.Gly461=) c.1365C>A (p.Gly455=) c.1263C>A (p.Gly421=) n.1332-496G>T c.1443C>A (p.Gly481=) c.1545C>A (p.Gly515=) c.1485C>A (p.Gly495=) n.3607-496G>T n.4043-496G>T c.1368C>A (p.Gly456=) c.1386C>A (p.Gly462=) c.1143C>A (p.Gly381=) c.1176C>A (p.Gly392=) c.1194C>A (p.Gly398=) | |
2 | g.127428760C= | CA1286884635 | PROC | c.1200C= (p.Gly400=) c.524C= c.1302C= (p.Gly434=) c.1383C= (p.Gly461=) c.1365C= (p.Gly455=) c.1263C= (p.Gly421=) n.1332-496G= c.1443C= (p.Gly481=) c.1545C= (p.Gly515=) c.1485C= (p.Gly495=) n.3607-496G= n.4043-496G= c.1368C= (p.Gly456=) c.1386C= (p.Gly462=) c.1143C= (p.Gly381=) c.1176C= (p.Gly392=) c.1194C= (p.Gly398=) | |
2 | g.127428760C>G | CA428872392 | PROC | c.1200C>G (p.Gly400=) c.524C>G c.1302C>G (p.Gly434=) c.1383C>G (p.Gly461=) c.1365C>G (p.Gly455=) c.1263C>G (p.Gly421=) n.1332-496G>C c.1443C>G (p.Gly481=) c.1545C>G (p.Gly515=) c.1485C>G (p.Gly495=) n.3607-496G>C n.4043-496G>C c.1368C>G (p.Gly456=) c.1386C>G (p.Gly462=) c.1143C>G (p.Gly381=) c.1176C>G (p.Gly392=) c.1194C>G (p.Gly398=) | |
2 | g.127428760C>T | CA1859545 | PROC | c.1200C>T (p.Gly400=) c.524C>T c.1302C>T (p.Gly434=) c.1383C>T (p.Gly461=) c.1365C>T (p.Gly455=) c.1263C>T (p.Gly421=) n.1332-496G>A c.1443C>T (p.Gly481=) c.1545C>T (p.Gly515=) c.1485C>T (p.Gly495=) n.3607-496G>A n.4043-496G>A c.1368C>T (p.Gly456=) c.1386C>T (p.Gly462=) c.1143C>T (p.Gly381=) c.1176C>T (p.Gly392=) c.1194C>T (p.Gly398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428761G>A | CA211710 | PROC | c.1201G>A (p.Asp401Asn) c.525G>A c.1303G>A (p.Asp435Asn) c.1384G>A (p.Asp462Asn) c.1366G>A (p.Asp456Asn) c.1264G>A (p.Asp422Asn) n.1332-497C>T c.1444G>A (p.Asp482Asn) c.1546G>A (p.Asp516Asn) c.1486G>A (p.Asp496Asn) n.3607-497C>T n.4043-497C>T c.1369G>A (p.Asp457Asn) c.1387G>A (p.Asp463Asn) c.1144G>A (p.Asp382Asn) c.1177G>A (p.Asp393Asn) c.1195G>A (p.Asp399Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428761G>C | CA348406231 | PROC | c.1201G>C (p.Asp401His) c.525G>C c.1303G>C (p.Asp435His) c.1384G>C (p.Asp462His) c.1366G>C (p.Asp456His) c.1264G>C (p.Asp422His) n.1332-497C>G c.1444G>C (p.Asp482His) c.1546G>C (p.Asp516His) c.1486G>C (p.Asp496His) n.3607-497C>G n.4043-497C>G c.1369G>C (p.Asp457His) c.1387G>C (p.Asp463His) c.1144G>C (p.Asp382His) c.1177G>C (p.Asp393His) c.1195G>C (p.Asp399His) | |
2 | g.127428761G= | CA1286884636 | PROC | c.1201G= (p.Asp401=) c.525G= c.1303G= (p.Asp435=) c.1384G= (p.Asp462=) c.1366G= (p.Asp456=) c.1264G= (p.Asp422=) n.1332-497C= c.1444G= (p.Asp482=) c.1546G= (p.Asp516=) c.1486G= (p.Asp496=) n.3607-497C= n.4043-497C= c.1369G= (p.Asp457=) c.1387G= (p.Asp463=) c.1144G= (p.Asp382=) c.1177G= (p.Asp393=) c.1195G= (p.Asp399=) | |
2 | g.127428761G>T | CA348406229 | PROC | c.1201G>T (p.Asp401Tyr) c.525G>T c.1303G>T (p.Asp435Tyr) c.1384G>T (p.Asp462Tyr) c.1366G>T (p.Asp456Tyr) c.1264G>T (p.Asp422Tyr) n.1332-497C>A c.1444G>T (p.Asp482Tyr) c.1546G>T (p.Asp516Tyr) c.1486G>T (p.Asp496Tyr) n.3607-497C>A n.4043-497C>A c.1369G>T (p.Asp457Tyr) c.1387G>T (p.Asp463Tyr) c.1144G>T (p.Asp382Tyr) c.1177G>T (p.Asp393Tyr) c.1195G>T (p.Asp399Tyr) | |
2 | g.127428762A>C | CA348406234 | PROC | c.1202A>C (p.Asp401Ala) c.526A>C c.1304A>C (p.Asp435Ala) c.1385A>C (p.Asp462Ala) c.1367A>C (p.Asp456Ala) c.1265A>C (p.Asp422Ala) n.1332-498T>G c.1445A>C (p.Asp482Ala) c.1547A>C (p.Asp516Ala) c.1487A>C (p.Asp496Ala) n.3607-498T>G n.4043-498T>G c.1370A>C (p.Asp457Ala) c.1388A>C (p.Asp463Ala) c.1145A>C (p.Asp382Ala) c.1178A>C (p.Asp393Ala) c.1196A>C (p.Asp399Ala) | |
2 | g.127428762A>G | CA348406235 | PROC | c.1202A>G (p.Asp401Gly) c.526A>G c.1304A>G (p.Asp435Gly) c.1385A>G (p.Asp462Gly) c.1367A>G (p.Asp456Gly) c.1265A>G (p.Asp422Gly) n.1332-498T>C c.1445A>G (p.Asp482Gly) c.1547A>G (p.Asp516Gly) c.1487A>G (p.Asp496Gly) n.3607-498T>C n.4043-498T>C c.1370A>G (p.Asp457Gly) c.1388A>G (p.Asp463Gly) c.1145A>G (p.Asp382Gly) c.1178A>G (p.Asp393Gly) c.1196A>G (p.Asp399Gly) | |
2 | g.127428762A>T | CA348406237 | PROC | c.1202A>T (p.Asp401Val) c.526A>T c.1304A>T (p.Asp435Val) c.1385A>T (p.Asp462Val) c.1367A>T (p.Asp456Val) c.1265A>T (p.Asp422Val) n.1332-498T>A c.1445A>T (p.Asp482Val) c.1547A>T (p.Asp516Val) c.1487A>T (p.Asp496Val) n.3607-498T>A n.4043-498T>A c.1370A>T (p.Asp457Val) c.1388A>T (p.Asp463Val) c.1145A>T (p.Asp382Val) c.1178A>T (p.Asp393Val) c.1196A>T (p.Asp399Val) | |
2 | g.127428763C>A | CA348406239 | PROC | c.1203C>A (p.Asp401Glu) c.527C>A c.1305C>A (p.Asp435Glu) c.1386C>A (p.Asp462Glu) c.1368C>A (p.Asp456Glu) c.1266C>A (p.Asp422Glu) n.1332-499G>T c.1446C>A (p.Asp482Glu) c.1548C>A (p.Asp516Glu) c.1488C>A (p.Asp496Glu) n.3607-499G>T n.4043-499G>T c.1371C>A (p.Asp457Glu) c.1389C>A (p.Asp463Glu) c.1146C>A (p.Asp382Glu) c.1179C>A (p.Asp393Glu) c.1197C>A (p.Asp399Glu) | gnomAD v4 |
2 | g.127428763C>G | CA348406241 | PROC | c.1203C>G (p.Asp401Glu) c.527C>G c.1305C>G (p.Asp435Glu) c.1386C>G (p.Asp462Glu) c.1368C>G (p.Asp456Glu) c.1266C>G (p.Asp422Glu) n.1332-499G>C c.1446C>G (p.Asp482Glu) c.1548C>G (p.Asp516Glu) c.1488C>G (p.Asp496Glu) n.3607-499G>C n.4043-499G>C c.1371C>G (p.Asp457Glu) c.1389C>G (p.Asp463Glu) c.1146C>G (p.Asp382Glu) c.1179C>G (p.Asp393Glu) c.1197C>G (p.Asp399Glu) | |
2 | g.127428763C>T | CA428872417 | PROC | c.1203C>T (p.Asp401=) c.527C>T c.1305C>T (p.Asp435=) c.1386C>T (p.Asp462=) c.1368C>T (p.Asp456=) c.1266C>T (p.Asp422=) n.1332-499G>A c.1446C>T (p.Asp482=) c.1548C>T (p.Asp516=) c.1488C>T (p.Asp496=) n.3607-499G>A n.4043-499G>A c.1371C>T (p.Asp457=) c.1389C>T (p.Asp463=) c.1146C>T (p.Asp382=) c.1179C>T (p.Asp393=) c.1197C>T (p.Asp399=) | gnomAD v4 |
2 | g.127428764A>C | CA348406244 | PROC | c.1204A>C (p.Ser402Arg) c.528A>C c.1306A>C (p.Ser436Arg) c.1387A>C (p.Ser463Arg) c.1369A>C (p.Ser457Arg) c.1267A>C (p.Ser423Arg) n.1332-500T>G c.1447A>C (p.Ser483Arg) c.1549A>C (p.Ser517Arg) c.1489A>C (p.Ser497Arg) n.3607-500T>G n.4043-500T>G c.1372A>C (p.Ser458Arg) c.1390A>C (p.Ser464Arg) c.1147A>C (p.Ser383Arg) c.1180A>C (p.Ser394Arg) c.1198A>C (p.Ser400Arg) | |
2 | g.127428764A>G | CA348406245 | PROC | c.1204A>G (p.Ser402Gly) c.528A>G c.1306A>G (p.Ser436Gly) c.1387A>G (p.Ser463Gly) c.1369A>G (p.Ser457Gly) c.1267A>G (p.Ser423Gly) n.1332-500T>C c.1447A>G (p.Ser483Gly) c.1549A>G (p.Ser517Gly) c.1489A>G (p.Ser497Gly) n.3607-500T>C n.4043-500T>C c.1372A>G (p.Ser458Gly) c.1390A>G (p.Ser464Gly) c.1147A>G (p.Ser383Gly) c.1180A>G (p.Ser394Gly) c.1198A>G (p.Ser400Gly) | |
2 | g.127428764A>T | CA348406246 | PROC | c.1204A>T (p.Ser402Cys) c.528A>T c.1306A>T (p.Ser436Cys) c.1387A>T (p.Ser463Cys) c.1369A>T (p.Ser457Cys) c.1267A>T (p.Ser423Cys) n.1332-500T>A c.1447A>T (p.Ser483Cys) c.1549A>T (p.Ser517Cys) c.1489A>T (p.Ser497Cys) n.3607-500T>A n.4043-500T>A c.1372A>T (p.Ser458Cys) c.1390A>T (p.Ser464Cys) c.1147A>T (p.Ser383Cys) c.1180A>T (p.Ser394Cys) c.1198A>T (p.Ser400Cys) | |
2 | g.127428765G>A | CA348406249 | PROC | c.1205G>A (p.Ser402Asn) c.529G>A c.1307G>A (p.Ser436Asn) c.1388G>A (p.Ser463Asn) c.1370G>A (p.Ser457Asn) c.1268G>A (p.Ser423Asn) n.1332-501C>T c.1448G>A (p.Ser483Asn) c.1550G>A (p.Ser517Asn) c.1490G>A (p.Ser497Asn) n.3607-501C>T n.4043-501C>T c.1373G>A (p.Ser458Asn) c.1391G>A (p.Ser464Asn) c.1148G>A (p.Ser383Asn) c.1181G>A (p.Ser394Asn) c.1199G>A (p.Ser400Asn) | |
2 | g.127428765G>C | CA348406250 | PROC | c.1205G>C (p.Ser402Thr) c.529G>C c.1307G>C (p.Ser436Thr) c.1388G>C (p.Ser463Thr) c.1370G>C (p.Ser457Thr) c.1268G>C (p.Ser423Thr) n.1332-501C>G c.1448G>C (p.Ser483Thr) c.1550G>C (p.Ser517Thr) c.1490G>C (p.Ser497Thr) n.3607-501C>G n.4043-501C>G c.1373G>C (p.Ser458Thr) c.1391G>C (p.Ser464Thr) c.1148G>C (p.Ser383Thr) c.1181G>C (p.Ser394Thr) c.1199G>C (p.Ser400Thr) | |
2 | g.127428765G>T | CA348406252 | PROC | c.1205G>T (p.Ser402Ile) c.529G>T c.1307G>T (p.Ser436Ile) c.1388G>T (p.Ser463Ile) c.1370G>T (p.Ser457Ile) c.1268G>T (p.Ser423Ile) n.1332-501C>A c.1448G>T (p.Ser483Ile) c.1550G>T (p.Ser517Ile) c.1490G>T (p.Ser497Ile) n.3607-501C>A n.4043-501C>A c.1373G>T (p.Ser458Ile) c.1391G>T (p.Ser464Ile) c.1148G>T (p.Ser383Ile) c.1181G>T (p.Ser394Ile) c.1199G>T (p.Ser400Ile) | |
2 | g.127428766T>A | CA348406254 | PROC | c.1206T>A (p.Ser402Arg) c.530T>A c.1308T>A (p.Ser436Arg) c.1389T>A (p.Ser463Arg) c.1371T>A (p.Ser457Arg) c.1269T>A (p.Ser423Arg) n.1332-502A>T c.1449T>A (p.Ser483Arg) c.1551T>A (p.Ser517Arg) c.1491T>A (p.Ser497Arg) n.3607-502A>T n.4043-502A>T c.1374T>A (p.Ser458Arg) c.1392T>A (p.Ser464Arg) c.1149T>A (p.Ser383Arg) c.1182T>A (p.Ser394Arg) c.1200T>A (p.Ser400Arg) | |
2 | g.127428766T>C | CA428872428 | PROC | c.1206T>C (p.Ser402=) c.530T>C c.1308T>C (p.Ser436=) c.1389T>C (p.Ser463=) c.1371T>C (p.Ser457=) c.1269T>C (p.Ser423=) n.1332-502A>G c.1449T>C (p.Ser483=) c.1551T>C (p.Ser517=) c.1491T>C (p.Ser497=) n.3607-502A>G n.4043-502A>G c.1374T>C (p.Ser458=) c.1392T>C (p.Ser464=) c.1149T>C (p.Ser383=) c.1182T>C (p.Ser394=) c.1200T>C (p.Ser400=) | dbSNP |
2 | g.127428766T>G | CA348406256 | PROC | c.1206T>G (p.Ser402Arg) c.530T>G c.1308T>G (p.Ser436Arg) c.1389T>G (p.Ser463Arg) c.1371T>G (p.Ser457Arg) c.1269T>G (p.Ser423Arg) n.1332-502A>C c.1449T>G (p.Ser483Arg) c.1551T>G (p.Ser517Arg) c.1491T>G (p.Ser497Arg) n.3607-502A>C n.4043-502A>C c.1374T>G (p.Ser458Arg) c.1392T>G (p.Ser464Arg) c.1149T>G (p.Ser383Arg) c.1182T>G (p.Ser394Arg) c.1200T>G (p.Ser400Arg) | |
2 | g.127428766T= | CA1286884637 | PROC | c.1206T= (p.Ser402=) c.530T= c.1308T= (p.Ser436=) c.1389T= (p.Ser463=) c.1371T= (p.Ser457=) c.1269T= (p.Ser423=) n.1332-502A= c.1449T= (p.Ser483=) c.1551T= (p.Ser517=) c.1491T= (p.Ser497=) n.3607-502A= n.4043-502A= c.1374T= (p.Ser458=) c.1392T= (p.Ser464=) c.1149T= (p.Ser383=) c.1182T= (p.Ser394=) c.1200T= (p.Ser400=) |