Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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=) | |
2 | g.127428767G>A | CA348406260 | PROC | c.1207G>A (p.Gly403Arg) c.531G>A c.1309G>A (p.Gly437Arg) c.1390G>A (p.Gly464Arg) c.1372G>A (p.Gly458Arg) c.1270G>A (p.Gly424Arg) n.1332-503C>T c.1450G>A (p.Gly484Arg) c.1552G>A (p.Gly518Arg) c.1492G>A (p.Gly498Arg) n.3607-503C>T n.4043-503C>T c.1375G>A (p.Gly459Arg) c.1393G>A (p.Gly465Arg) c.1150G>A (p.Gly384Arg) c.1183G>A (p.Gly395Arg) c.1201G>A (p.Gly401Arg) | ClinVar |
2 | g.127428767G>C | CA348406262 | PROC | c.1207G>C (p.Gly403Arg) c.531G>C c.1309G>C (p.Gly437Arg) c.1390G>C (p.Gly464Arg) c.1372G>C (p.Gly458Arg) c.1270G>C (p.Gly424Arg) n.1332-503C>G c.1450G>C (p.Gly484Arg) c.1552G>C (p.Gly518Arg) c.1492G>C (p.Gly498Arg) n.3607-503C>G n.4043-503C>G c.1375G>C (p.Gly459Arg) c.1393G>C (p.Gly465Arg) c.1150G>C (p.Gly384Arg) c.1183G>C (p.Gly395Arg) c.1201G>C (p.Gly401Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428767G= | CA1286884638 | PROC | c.1207G= (p.Gly403=) c.531G= c.1309G= (p.Gly437=) c.1390G= (p.Gly464=) c.1372G= (p.Gly458=) c.1270G= (p.Gly424=) n.1332-503C= c.1450G= (p.Gly484=) c.1552G= (p.Gly518=) c.1492G= (p.Gly498=) n.3607-503C= n.4043-503C= c.1375G= (p.Gly459=) c.1393G= (p.Gly465=) c.1150G= (p.Gly384=) c.1183G= (p.Gly395=) c.1201G= (p.Gly401=) | |
2 | g.127428767G>T | CA348406258 | PROC | c.1207G>T (p.Gly403Trp) c.531G>T c.1309G>T (p.Gly437Trp) c.1390G>T (p.Gly464Trp) c.1372G>T (p.Gly458Trp) c.1270G>T (p.Gly424Trp) n.1332-503C>A c.1450G>T (p.Gly484Trp) c.1552G>T (p.Gly518Trp) c.1492G>T (p.Gly498Trp) n.3607-503C>A n.4043-503C>A c.1375G>T (p.Gly459Trp) c.1393G>T (p.Gly465Trp) c.1150G>T (p.Gly384Trp) c.1183G>T (p.Gly395Trp) c.1201G>T (p.Gly401Trp) | |
2 | g.127428772dup | CA16610244 | PROC | c.1212dup (p.Pro405AlafsTer20) c.536dup c.1314dup (p.Pro439AlafsTer20) c.1395dup (p.Pro466AlafsTer20) c.1377dup (p.Pro460AlafsTer20) c.1275dup (p.Pro426AlafsTer20) n.1332-503dup c.1455dup (p.Pro486AlafsTer20) c.1557dup (p.Pro520AlafsTer20) c.1497dup (p.Pro500AlafsTer20) n.3607-503dup n.4043-503dup c.1380dup (p.Pro461AlafsTer20) c.1398dup (p.Pro467AlafsTer20) c.1155dup (p.Pro386AlafsTer20) c.1188dup (p.Pro397AlafsTer20) c.1206dup (p.Pro403AlafsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.127428771_127428772dup | CA2832548004 | PROC | c.1211_1212dup (p.Pro405GlyfsTer17) c.535_536dup c.1313_1314dup (p.Pro439GlyfsTer17) c.1394_1395dup (p.Pro466GlyfsTer17) c.1376_1377dup (p.Pro460GlyfsTer17) c.1274_1275dup (p.Pro426GlyfsTer17) n.1332-504_1332-503dup c.1454_1455dup (p.Pro486GlyfsTer17) c.1556_1557dup (p.Pro520GlyfsTer17) c.1496_1497dup (p.Pro500GlyfsTer17) n.3607-504_3607-503dup n.4043-504_4043-503dup c.1379_1380dup (p.Pro461GlyfsTer17) c.1397_1398dup (p.Pro467GlyfsTer17) c.1154_1155dup (p.Pro386GlyfsTer17) c.1187_1188dup (p.Pro397GlyfsTer17) c.1205_1206dup (p.Pro403GlyfsTer17) | |
2 | g.127428772del | CA645516639 | PROC | c.1212del (p.Met406TrpfsTer15) c.536del c.1314del (p.Met440TrpfsTer15) c.1395del (p.Met467TrpfsTer15) c.1377del (p.Met461TrpfsTer15) c.1275del (p.Met427TrpfsTer15) n.1332-503del c.1455del (p.Met487TrpfsTer15) c.1557del (p.Met521TrpfsTer15) c.1497del (p.Met501TrpfsTer15) n.3607-503del n.4043-503del c.1380del (p.Met462TrpfsTer15) c.1398del (p.Met468TrpfsTer15) c.1155del (p.Met387TrpfsTer15) c.1188del (p.Met398TrpfsTer15) c.1206del (p.Met404TrpfsTer15) | COSMIC |
2 | g.127428771_127428772del | CA2586969922 | PROC | c.1211_1212del (p.Gly404AlafsTer20) c.535_536del c.1313_1314del (p.Gly438AlafsTer20) c.1394_1395del (p.Gly465AlafsTer20) c.1376_1377del (p.Gly459AlafsTer20) c.1274_1275del (p.Gly425AlafsTer20) n.1332-504_1332-503del c.1454_1455del (p.Gly485AlafsTer20) c.1556_1557del (p.Gly519AlafsTer20) c.1496_1497del (p.Gly499AlafsTer20) n.3607-504_3607-503del n.4043-504_4043-503del c.1379_1380del (p.Gly460AlafsTer20) c.1397_1398del (p.Gly466AlafsTer20) c.1154_1155del (p.Gly385AlafsTer20) c.1187_1188del (p.Gly396AlafsTer20) c.1205_1206del (p.Gly402AlafsTer20) | |
2 | g.127428768G>A | CA348406264 | PROC | c.1208G>A (p.Gly403Glu) c.532G>A c.1310G>A (p.Gly437Glu) c.1391G>A (p.Gly464Glu) c.1373G>A (p.Gly458Glu) c.1271G>A (p.Gly424Glu) n.1332-504C>T c.1451G>A (p.Gly484Glu) c.1553G>A (p.Gly518Glu) c.1493G>A (p.Gly498Glu) n.3607-504C>T n.4043-504C>T c.1376G>A (p.Gly459Glu) c.1394G>A (p.Gly465Glu) c.1151G>A (p.Gly384Glu) c.1184G>A (p.Gly395Glu) c.1202G>A (p.Gly401Glu) | |
2 | g.127428768G>C | CA348406265 | PROC | c.1208G>C (p.Gly403Ala) c.532G>C c.1310G>C (p.Gly437Ala) c.1391G>C (p.Gly464Ala) c.1373G>C (p.Gly458Ala) c.1271G>C (p.Gly424Ala) n.1332-504C>G c.1451G>C (p.Gly484Ala) c.1553G>C (p.Gly518Ala) c.1493G>C (p.Gly498Ala) n.3607-504C>G n.4043-504C>G c.1376G>C (p.Gly459Ala) c.1394G>C (p.Gly465Ala) c.1151G>C (p.Gly384Ala) c.1184G>C (p.Gly395Ala) c.1202G>C (p.Gly401Ala) | |
2 | g.127428768G>T | CA348406267 | PROC | c.1208G>T (p.Gly403Val) c.532G>T c.1310G>T (p.Gly437Val) c.1391G>T (p.Gly464Val) c.1373G>T (p.Gly458Val) c.1271G>T (p.Gly424Val) n.1332-504C>A c.1451G>T (p.Gly484Val) c.1553G>T (p.Gly518Val) c.1493G>T (p.Gly498Val) n.3607-504C>A n.4043-504C>A c.1376G>T (p.Gly459Val) c.1394G>T (p.Gly465Val) c.1151G>T (p.Gly384Val) c.1184G>T (p.Gly395Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
2 | g.127428769G>A | CA428872454 | PROC | c.1209G>A (p.Gly403=) c.533G>A c.1311G>A (p.Gly437=) c.1392G>A (p.Gly464=) c.1374G>A (p.Gly458=) c.1272G>A (p.Gly424=) n.1332-505C>T c.1452G>A (p.Gly484=) c.1554G>A (p.Gly518=) c.1494G>A (p.Gly498=) n.3607-505C>T n.4043-505C>T c.1377G>A (p.Gly459=) c.1395G>A (p.Gly465=) c.1152G>A (p.Gly384=) c.1185G>A (p.Gly395=) c.1203G>A (p.Gly401=) | gnomAD v4 |
2 | g.127428769G>C | CA428872451 | PROC | c.1209G>C (p.Gly403=) c.533G>C c.1311G>C (p.Gly437=) c.1392G>C (p.Gly464=) c.1374G>C (p.Gly458=) c.1272G>C (p.Gly424=) n.1332-505C>G c.1452G>C (p.Gly484=) c.1554G>C (p.Gly518=) c.1494G>C (p.Gly498=) n.3607-505C>G n.4043-505C>G c.1377G>C (p.Gly459=) c.1395G>C (p.Gly465=) c.1152G>C (p.Gly384=) c.1185G>C (p.Gly395=) c.1203G>C (p.Gly401=) | |
2 | g.127428769G>T | CA428872448 | PROC | c.1209G>T (p.Gly403=) c.533G>T c.1311G>T (p.Gly437=) c.1392G>T (p.Gly464=) c.1374G>T (p.Gly458=) c.1272G>T (p.Gly424=) n.1332-505C>A c.1452G>T (p.Gly484=) c.1554G>T (p.Gly518=) c.1494G>T (p.Gly498=) n.3607-505C>A n.4043-505C>A c.1377G>T (p.Gly459=) c.1395G>T (p.Gly465=) c.1152G>T (p.Gly384=) c.1185G>T (p.Gly395=) c.1203G>T (p.Gly401=) | |
2 | g.127428770G>A | CA348406270 | PROC | c.1210G>A (p.Gly404Arg) c.534G>A c.1312G>A (p.Gly438Arg) c.1393G>A (p.Gly465Arg) c.1375G>A (p.Gly459Arg) c.1273G>A (p.Gly425Arg) n.1332-506C>T c.1453G>A (p.Gly485Arg) c.1555G>A (p.Gly519Arg) c.1495G>A (p.Gly499Arg) n.3607-506C>T n.4043-506C>T c.1378G>A (p.Gly460Arg) c.1396G>A (p.Gly466Arg) c.1153G>A (p.Gly385Arg) c.1186G>A (p.Gly396Arg) c.1204G>A (p.Gly402Arg) | |
2 | g.127428770G>C | CA348406271 | PROC | c.1210G>C (p.Gly404Arg) c.534G>C c.1312G>C (p.Gly438Arg) c.1393G>C (p.Gly465Arg) c.1375G>C (p.Gly459Arg) c.1273G>C (p.Gly425Arg) n.1332-506C>G c.1453G>C (p.Gly485Arg) c.1555G>C (p.Gly519Arg) c.1495G>C (p.Gly499Arg) n.3607-506C>G n.4043-506C>G c.1378G>C (p.Gly460Arg) c.1396G>C (p.Gly466Arg) c.1153G>C (p.Gly385Arg) c.1186G>C (p.Gly396Arg) c.1204G>C (p.Gly402Arg) | |
2 | g.127428770G>T | CA348406273 | PROC | c.1210G>T (p.Gly404Trp) c.534G>T c.1312G>T (p.Gly438Trp) c.1393G>T (p.Gly465Trp) c.1375G>T (p.Gly459Trp) c.1273G>T (p.Gly425Trp) n.1332-506C>A c.1453G>T (p.Gly485Trp) c.1555G>T (p.Gly519Trp) c.1495G>T (p.Gly499Trp) n.3607-506C>A n.4043-506C>A c.1378G>T (p.Gly460Trp) c.1396G>T (p.Gly466Trp) c.1153G>T (p.Gly385Trp) c.1186G>T (p.Gly396Trp) c.1204G>T (p.Gly402Trp) | |
2 | g.127428771G>A | CA348406275 | PROC | c.1211G>A (p.Gly404Glu) c.535G>A c.1313G>A (p.Gly438Glu) c.1394G>A (p.Gly465Glu) c.1376G>A (p.Gly459Glu) c.1274G>A (p.Gly425Glu) n.1332-507C>T c.1454G>A (p.Gly485Glu) c.1556G>A (p.Gly519Glu) c.1496G>A (p.Gly499Glu) n.3607-507C>T n.4043-507C>T c.1379G>A (p.Gly460Glu) c.1397G>A (p.Gly466Glu) c.1154G>A (p.Gly385Glu) c.1187G>A (p.Gly396Glu) c.1205G>A (p.Gly402Glu) | gnomAD v4 |
2 | g.127428771G>C | CA348406277 | PROC | c.1211G>C (p.Gly404Ala) c.535G>C c.1313G>C (p.Gly438Ala) c.1394G>C (p.Gly465Ala) c.1376G>C (p.Gly459Ala) c.1274G>C (p.Gly425Ala) n.1332-507C>G c.1454G>C (p.Gly485Ala) c.1556G>C (p.Gly519Ala) c.1496G>C (p.Gly499Ala) n.3607-507C>G n.4043-507C>G c.1379G>C (p.Gly460Ala) c.1397G>C (p.Gly466Ala) c.1154G>C (p.Gly385Ala) c.1187G>C (p.Gly396Ala) c.1205G>C (p.Gly402Ala) | |
2 | g.127428771G>T | CA348406276 | PROC | c.1211G>T (p.Gly404Val) c.535G>T c.1313G>T (p.Gly438Val) c.1394G>T (p.Gly465Val) c.1376G>T (p.Gly459Val) c.1274G>T (p.Gly425Val) n.1332-507C>A c.1454G>T (p.Gly485Val) c.1556G>T (p.Gly519Val) c.1496G>T (p.Gly499Val) n.3607-507C>A n.4043-507C>A c.1379G>T (p.Gly460Val) c.1397G>T (p.Gly466Val) c.1154G>T (p.Gly385Val) c.1187G>T (p.Gly396Val) c.1205G>T (p.Gly402Val) | |
2 | g.127428772G>A | CA1859546 | PROC | c.1212G>A (p.Gly404=) c.536G>A c.1314G>A (p.Gly438=) c.1395G>A (p.Gly465=) c.1377G>A (p.Gly459=) c.1275G>A (p.Gly425=) n.1332-508C>T c.1455G>A (p.Gly485=) c.1557G>A (p.Gly519=) c.1497G>A (p.Gly499=) n.3607-508C>T n.4043-508C>T c.1380G>A (p.Gly460=) c.1398G>A (p.Gly466=) c.1155G>A (p.Gly385=) c.1188G>A (p.Gly396=) c.1206G>A (p.Gly402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428772G>C | CA428872473 | PROC | c.1212G>C (p.Gly404=) c.536G>C c.1314G>C (p.Gly438=) c.1395G>C (p.Gly465=) c.1377G>C (p.Gly459=) c.1275G>C (p.Gly425=) n.1332-508C>G c.1455G>C (p.Gly485=) c.1557G>C (p.Gly519=) c.1497G>C (p.Gly499=) n.3607-508C>G n.4043-508C>G c.1380G>C (p.Gly460=) c.1398G>C (p.Gly466=) c.1155G>C (p.Gly385=) c.1188G>C (p.Gly396=) c.1206G>C (p.Gly402=) | |
2 | g.127428772G= | CA1286884639 | PROC | c.1212G= (p.Gly404=) c.536G= c.1314G= (p.Gly438=) c.1395G= (p.Gly465=) c.1377G= (p.Gly459=) c.1275G= (p.Gly425=) n.1332-508C= c.1455G= (p.Gly485=) c.1557G= (p.Gly519=) c.1497G= (p.Gly499=) n.3607-508C= n.4043-508C= c.1380G= (p.Gly460=) c.1398G= (p.Gly466=) c.1155G= (p.Gly385=) c.1188G= (p.Gly396=) c.1206G= (p.Gly402=) | |
2 | g.127428772G>T | CA428872471 | PROC | c.1212G>T (p.Gly404=) c.536G>T c.1314G>T (p.Gly438=) c.1395G>T (p.Gly465=) c.1377G>T (p.Gly459=) c.1275G>T (p.Gly425=) n.1332-508C>A c.1455G>T (p.Gly485=) c.1557G>T (p.Gly519=) c.1497G>T (p.Gly499=) n.3607-508C>A n.4043-508C>A c.1380G>T (p.Gly460=) c.1398G>T (p.Gly466=) c.1155G>T (p.Gly385=) c.1188G>T (p.Gly396=) c.1206G>T (p.Gly402=) | |
2 | g.127428773C>A | CA348406279 | PROC | c.1213C>A (p.Pro405Thr) c.537C>A c.1315C>A (p.Pro439Thr) c.1396C>A (p.Pro466Thr) c.1378C>A (p.Pro460Thr) c.1276C>A (p.Pro426Thr) n.1332-509G>T c.1456C>A (p.Pro486Thr) c.1558C>A (p.Pro520Thr) c.1498C>A (p.Pro500Thr) n.3607-509G>T n.4043-509G>T c.1381C>A (p.Pro461Thr) c.1399C>A (p.Pro467Thr) c.1156C>A (p.Pro386Thr) c.1189C>A (p.Pro397Thr) c.1207C>A (p.Pro403Thr) | |
2 | g.127428773C= | CA1286884640 | PROC | c.1213C= (p.Pro405=) c.537C= c.1315C= (p.Pro439=) c.1396C= (p.Pro466=) c.1378C= (p.Pro460=) c.1276C= (p.Pro426=) n.1332-509G= c.1456C= (p.Pro486=) c.1558C= (p.Pro520=) c.1498C= (p.Pro500=) n.3607-509G= n.4043-509G= c.1381C= (p.Pro461=) c.1399C= (p.Pro467=) c.1156C= (p.Pro386=) c.1189C= (p.Pro397=) c.1207C= (p.Pro403=) | |
2 | g.127428773C>G | CA348406280 | PROC | c.1213C>G (p.Pro405Ala) c.537C>G c.1315C>G (p.Pro439Ala) c.1396C>G (p.Pro466Ala) c.1378C>G (p.Pro460Ala) c.1276C>G (p.Pro426Ala) n.1332-509G>C c.1456C>G (p.Pro486Ala) c.1558C>G (p.Pro520Ala) c.1498C>G (p.Pro500Ala) n.3607-509G>C n.4043-509G>C c.1381C>G (p.Pro461Ala) c.1399C>G (p.Pro467Ala) c.1156C>G (p.Pro386Ala) c.1189C>G (p.Pro397Ala) c.1207C>G (p.Pro403Ala) | dbSNP |
2 | g.127428773C>T | CA348406282 | PROC | c.1213C>T (p.Pro405Ser) c.537C>T c.1315C>T (p.Pro439Ser) c.1396C>T (p.Pro466Ser) c.1378C>T (p.Pro460Ser) c.1276C>T (p.Pro426Ser) n.1332-509G>A c.1456C>T (p.Pro486Ser) c.1558C>T (p.Pro520Ser) c.1498C>T (p.Pro500Ser) n.3607-509G>A n.4043-509G>A c.1381C>T (p.Pro461Ser) c.1399C>T (p.Pro467Ser) c.1156C>T (p.Pro386Ser) c.1189C>T (p.Pro397Ser) c.1207C>T (p.Pro403Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.127428775dup | CA2842875940 | PROC | c.1215dup (p.Met406HisfsTer19) c.539dup c.1317dup (p.Met440HisfsTer19) c.1398dup (p.Met467HisfsTer19) c.1380dup (p.Met461HisfsTer19) c.1278dup (p.Met427HisfsTer19) n.1332-509dup c.1458dup (p.Met487HisfsTer19) c.1560dup (p.Met521HisfsTer19) c.1500dup (p.Met501HisfsTer19) n.3607-509dup n.4043-509dup c.1383dup (p.Met462HisfsTer19) c.1401dup (p.Met468HisfsTer19) c.1158dup (p.Met387HisfsTer19) c.1191dup (p.Met398HisfsTer19) c.1209dup (p.Met404HisfsTer19) | |
2 | g.127428775del | CA2586969923 | PROC | c.1215del (p.Met406TrpfsTer15) c.539del c.1317del (p.Met440TrpfsTer15) c.1398del (p.Met467TrpfsTer15) c.1380del (p.Met461TrpfsTer15) c.1278del (p.Met427TrpfsTer15) n.1332-509del c.1458del (p.Met487TrpfsTer15) c.1560del (p.Met521TrpfsTer15) c.1500del (p.Met501TrpfsTer15) n.3607-509del n.4043-509del c.1383del (p.Met462TrpfsTer15) c.1401del (p.Met468TrpfsTer15) c.1158del (p.Met387TrpfsTer15) c.1191del (p.Met398TrpfsTer15) c.1209del (p.Met404TrpfsTer15) | |
2 | g.127428774C>A | CA348406284 | PROC | c.1214C>A (p.Pro405His) c.538C>A c.1316C>A (p.Pro439His) c.1397C>A (p.Pro466His) c.1379C>A (p.Pro460His) c.1277C>A (p.Pro426His) n.1332-510G>T c.1457C>A (p.Pro486His) c.1559C>A (p.Pro520His) c.1499C>A (p.Pro500His) n.3607-510G>T n.4043-510G>T c.1382C>A (p.Pro461His) c.1400C>A (p.Pro467His) c.1157C>A (p.Pro386His) c.1190C>A (p.Pro397His) c.1208C>A (p.Pro403His) | |
2 | g.127428774C>G | CA348406287 | PROC | c.1214C>G (p.Pro405Arg) c.538C>G c.1316C>G (p.Pro439Arg) c.1397C>G (p.Pro466Arg) c.1379C>G (p.Pro460Arg) c.1277C>G (p.Pro426Arg) n.1332-510G>C c.1457C>G (p.Pro486Arg) c.1559C>G (p.Pro520Arg) c.1499C>G (p.Pro500Arg) n.3607-510G>C n.4043-510G>C c.1382C>G (p.Pro461Arg) c.1400C>G (p.Pro467Arg) c.1157C>G (p.Pro386Arg) c.1190C>G (p.Pro397Arg) c.1208C>G (p.Pro403Arg) | |
2 | g.127428774C>T | CA348406286 | PROC | c.1214C>T (p.Pro405Leu) c.538C>T c.1316C>T (p.Pro439Leu) c.1397C>T (p.Pro466Leu) c.1379C>T (p.Pro460Leu) c.1277C>T (p.Pro426Leu) n.1332-510G>A c.1457C>T (p.Pro486Leu) c.1559C>T (p.Pro520Leu) c.1499C>T (p.Pro500Leu) n.3607-510G>A n.4043-510G>A c.1382C>T (p.Pro461Leu) c.1400C>T (p.Pro467Leu) c.1157C>T (p.Pro386Leu) c.1190C>T (p.Pro397Leu) c.1208C>T (p.Pro403Leu) | |
2 | g.127428775C>A | CA428872493 | PROC | c.1215C>A (p.Pro405=) c.539C>A c.1317C>A (p.Pro439=) c.1398C>A (p.Pro466=) c.1380C>A (p.Pro460=) c.1278C>A (p.Pro426=) n.1332-511G>T c.1458C>A (p.Pro486=) c.1560C>A (p.Pro520=) c.1500C>A (p.Pro500=) n.3607-511G>T n.4043-511G>T c.1383C>A (p.Pro461=) c.1401C>A (p.Pro467=) c.1158C>A (p.Pro386=) c.1191C>A (p.Pro397=) c.1209C>A (p.Pro403=) | |
2 | g.127428775C= | CA1286884641 | PROC | c.1215C= (p.Pro405=) c.539C= c.1317C= (p.Pro439=) c.1398C= (p.Pro466=) c.1380C= (p.Pro460=) c.1278C= (p.Pro426=) n.1332-511G= c.1458C= (p.Pro486=) c.1560C= (p.Pro520=) c.1500C= (p.Pro500=) n.3607-511G= n.4043-511G= c.1383C= (p.Pro461=) c.1401C= (p.Pro467=) c.1158C= (p.Pro386=) c.1191C= (p.Pro397=) c.1209C= (p.Pro403=) | |
2 | g.127428775C>G | CA428872495 | PROC | c.1215C>G (p.Pro405=) c.539C>G c.1317C>G (p.Pro439=) c.1398C>G (p.Pro466=) c.1380C>G (p.Pro460=) c.1278C>G (p.Pro426=) n.1332-511G>C c.1458C>G (p.Pro486=) c.1560C>G (p.Pro520=) c.1500C>G (p.Pro500=) n.3607-511G>C n.4043-511G>C c.1383C>G (p.Pro461=) c.1401C>G (p.Pro467=) c.1158C>G (p.Pro386=) c.1191C>G (p.Pro397=) c.1209C>G (p.Pro403=) | dbSNP |
2 | g.127428775C>T | CA428872496 | PROC | c.1215C>T (p.Pro405=) c.539C>T c.1317C>T (p.Pro439=) c.1398C>T (p.Pro466=) c.1380C>T (p.Pro460=) c.1278C>T (p.Pro426=) n.1332-511G>A c.1458C>T (p.Pro486=) c.1560C>T (p.Pro520=) c.1500C>T (p.Pro500=) n.3607-511G>A n.4043-511G>A c.1383C>T (p.Pro461=) c.1401C>T (p.Pro467=) c.1158C>T (p.Pro386=) c.1191C>T (p.Pro397=) c.1209C>T (p.Pro403=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428776A= | CA1286884642 | PROC | c.1216A= (p.Met406=) c.540A= c.1318A= (p.Met440=) c.1399A= (p.Met467=) c.1381A= (p.Met461=) c.1279A= (p.Met427=) n.1332-512T= c.1459A= (p.Met487=) c.1561A= (p.Met521=) c.1501A= (p.Met501=) n.3607-512T= n.4043-512T= c.1384A= (p.Met462=) c.1402A= (p.Met468=) c.1159A= (p.Met387=) c.1192A= (p.Met398=) c.1210A= (p.Met404=) | |
2 | g.127428776A>C | CA348406290 | PROC | c.1216A>C (p.Met406Leu) c.540A>C c.1318A>C (p.Met440Leu) c.1399A>C (p.Met467Leu) c.1381A>C (p.Met461Leu) c.1279A>C (p.Met427Leu) n.1332-512T>G c.1459A>C (p.Met487Leu) c.1561A>C (p.Met521Leu) c.1501A>C (p.Met501Leu) n.3607-512T>G n.4043-512T>G c.1384A>C (p.Met462Leu) c.1402A>C (p.Met468Leu) c.1159A>C (p.Met387Leu) c.1192A>C (p.Met398Leu) c.1210A>C (p.Met404Leu) | dbSNP |
2 | g.127428776A>G | CA348406293 | PROC | c.1216A>G (p.Met406Val) c.540A>G c.1318A>G (p.Met440Val) c.1399A>G (p.Met467Val) c.1381A>G (p.Met461Val) c.1279A>G (p.Met427Val) n.1332-512T>C c.1459A>G (p.Met487Val) c.1561A>G (p.Met521Val) c.1501A>G (p.Met501Val) n.3607-512T>C n.4043-512T>C c.1384A>G (p.Met462Val) c.1402A>G (p.Met468Val) c.1159A>G (p.Met387Val) c.1192A>G (p.Met398Val) c.1210A>G (p.Met404Val) | ClinVar dbSNP COSMIC COSMIC |
2 | g.127428776A>T | CA348406292 | PROC | c.1216A>T (p.Met406Leu) c.540A>T c.1318A>T (p.Met440Leu) c.1399A>T (p.Met467Leu) c.1381A>T (p.Met461Leu) c.1279A>T (p.Met427Leu) n.1332-512T>A c.1459A>T (p.Met487Leu) c.1561A>T (p.Met521Leu) c.1501A>T (p.Met501Leu) n.3607-512T>A n.4043-512T>A c.1384A>T (p.Met462Leu) c.1402A>T (p.Met468Leu) c.1159A>T (p.Met387Leu) c.1192A>T (p.Met398Leu) c.1210A>T (p.Met404Leu) | |
2 | g.127428777T>A | CA1859547 | PROC | c.1217T>A (p.Met406Lys) c.541T>A c.1319T>A (p.Met440Lys) c.1400T>A (p.Met467Lys) c.1382T>A (p.Met461Lys) c.1280T>A (p.Met427Lys) n.1332-513A>T c.1460T>A (p.Met487Lys) c.1562T>A (p.Met521Lys) c.1502T>A (p.Met501Lys) n.3607-513A>T n.4043-513A>T c.1385T>A (p.Met462Lys) c.1403T>A (p.Met468Lys) c.1160T>A (p.Met387Lys) c.1193T>A (p.Met398Lys) c.1211T>A (p.Met404Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428777T>C | CA348406297 | PROC | c.1217T>C (p.Met406Thr) c.541T>C c.1319T>C (p.Met440Thr) c.1400T>C (p.Met467Thr) c.1382T>C (p.Met461Thr) c.1280T>C (p.Met427Thr) n.1332-513A>G c.1460T>C (p.Met487Thr) c.1562T>C (p.Met521Thr) c.1502T>C (p.Met501Thr) n.3607-513A>G n.4043-513A>G c.1385T>C (p.Met462Thr) c.1403T>C (p.Met468Thr) c.1160T>C (p.Met387Thr) c.1193T>C (p.Met398Thr) c.1211T>C (p.Met404Thr) | dbSNP gnomAD v4 |
2 | g.127428777T>G | CA348406298 | PROC | c.1217T>G (p.Met406Arg) c.541T>G c.1319T>G (p.Met440Arg) c.1400T>G (p.Met467Arg) c.1382T>G (p.Met461Arg) c.1280T>G (p.Met427Arg) n.1332-513A>C c.1460T>G (p.Met487Arg) c.1562T>G (p.Met521Arg) c.1502T>G (p.Met501Arg) n.3607-513A>C n.4043-513A>C c.1385T>G (p.Met462Arg) c.1403T>G (p.Met468Arg) c.1160T>G (p.Met387Arg) c.1193T>G (p.Met398Arg) c.1211T>G (p.Met404Arg) | |
2 | g.127428777T= | CA1286884643 | PROC | c.1217T= (p.Met406=) c.541T= c.1319T= (p.Met440=) c.1400T= (p.Met467=) c.1382T= (p.Met461=) c.1280T= (p.Met427=) n.1332-513A= c.1460T= (p.Met487=) c.1562T= (p.Met521=) c.1502T= (p.Met501=) n.3607-513A= n.4043-513A= c.1385T= (p.Met462=) c.1403T= (p.Met468=) c.1160T= (p.Met387=) c.1193T= (p.Met398=) c.1211T= (p.Met404=) | |
2 | g.127428778G>A | CA1859548 | PROC | c.1218G>A (p.Met406Ile) c.542G>A c.1320G>A (p.Met440Ile) c.1401G>A (p.Met467Ile) c.1383G>A (p.Met461Ile) c.1281G>A (p.Met427Ile) n.1332-514C>T c.1461G>A (p.Met487Ile) c.1563G>A (p.Met521Ile) c.1503G>A (p.Met501Ile) n.3607-514C>T n.4043-514C>T c.1386G>A (p.Met462Ile) c.1404G>A (p.Met468Ile) c.1161G>A (p.Met387Ile) c.1194G>A (p.Met398Ile) c.1212G>A (p.Met404Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428778G>C | CA348406302 | PROC | c.1218G>C (p.Met406Ile) c.542G>C c.1320G>C (p.Met440Ile) c.1401G>C (p.Met467Ile) c.1383G>C (p.Met461Ile) c.1281G>C (p.Met427Ile) n.1332-514C>G c.1461G>C (p.Met487Ile) c.1563G>C (p.Met521Ile) c.1503G>C (p.Met501Ile) n.3607-514C>G n.4043-514C>G c.1386G>C (p.Met462Ile) c.1404G>C (p.Met468Ile) c.1161G>C (p.Met387Ile) c.1194G>C (p.Met398Ile) c.1212G>C (p.Met404Ile) | |
2 | g.127428778G= | CA1286884644 | PROC | c.1218G= (p.Met406=) c.542G= c.1320G= (p.Met440=) c.1401G= (p.Met467=) c.1383G= (p.Met461=) c.1281G= (p.Met427=) n.1332-514C= c.1461G= (p.Met487=) c.1563G= (p.Met521=) c.1503G= (p.Met501=) n.3607-514C= n.4043-514C= c.1386G= (p.Met462=) c.1404G= (p.Met468=) c.1161G= (p.Met387=) c.1194G= (p.Met398=) c.1212G= (p.Met404=) | |
2 | g.127428778G>T | CA348406304 | PROC | c.1218G>T (p.Met406Ile) c.542G>T c.1320G>T (p.Met440Ile) c.1401G>T (p.Met467Ile) c.1383G>T (p.Met461Ile) c.1281G>T (p.Met427Ile) n.1332-514C>A c.1461G>T (p.Met487Ile) c.1563G>T (p.Met521Ile) c.1503G>T (p.Met501Ile) n.3607-514C>A n.4043-514C>A c.1386G>T (p.Met462Ile) c.1404G>T (p.Met468Ile) c.1161G>T (p.Met387Ile) c.1194G>T (p.Met398Ile) c.1212G>T (p.Met404Ile) | |
2 | g.127428779G>A | CA348406306 | PROC | c.1219G>A (p.Val407Ile) c.543G>A c.1321G>A (p.Val441Ile) c.1402G>A (p.Val468Ile) c.1384G>A (p.Val462Ile) c.1282G>A (p.Val428Ile) n.1332-515C>T c.1462G>A (p.Val488Ile) c.1564G>A (p.Val522Ile) c.1504G>A (p.Val502Ile) n.3607-515C>T n.4043-515C>T c.1387G>A (p.Val463Ile) c.1405G>A (p.Val469Ile) c.1162G>A (p.Val388Ile) c.1195G>A (p.Val399Ile) c.1213G>A (p.Val405Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428779G>C | CA348406308 | PROC | c.1219G>C (p.Val407Leu) c.543G>C c.1321G>C (p.Val441Leu) c.1402G>C (p.Val468Leu) c.1384G>C (p.Val462Leu) c.1282G>C (p.Val428Leu) n.1332-515C>G c.1462G>C (p.Val488Leu) c.1564G>C (p.Val522Leu) c.1504G>C (p.Val502Leu) n.3607-515C>G n.4043-515C>G c.1387G>C (p.Val463Leu) c.1405G>C (p.Val469Leu) c.1162G>C (p.Val388Leu) c.1195G>C (p.Val399Leu) c.1213G>C (p.Val405Leu) | |
2 | g.127428779G= | CA1286884645 | PROC | c.1219G= (p.Val407=) c.543G= c.1321G= (p.Val441=) c.1402G= (p.Val468=) c.1384G= (p.Val462=) c.1282G= (p.Val428=) n.1332-515C= c.1462G= (p.Val488=) c.1564G= (p.Val522=) c.1504G= (p.Val502=) n.3607-515C= n.4043-515C= c.1387G= (p.Val463=) c.1405G= (p.Val469=) c.1162G= (p.Val388=) c.1195G= (p.Val399=) c.1213G= (p.Val405=) | |
2 | g.127428779G>T | CA348406310 | PROC | c.1219G>T (p.Val407Phe) c.543G>T c.1321G>T (p.Val441Phe) c.1402G>T (p.Val468Phe) c.1384G>T (p.Val462Phe) c.1282G>T (p.Val428Phe) n.1332-515C>A c.1462G>T (p.Val488Phe) c.1564G>T (p.Val522Phe) c.1504G>T (p.Val502Phe) n.3607-515C>A n.4043-515C>A c.1387G>T (p.Val463Phe) c.1405G>T (p.Val469Phe) c.1162G>T (p.Val388Phe) c.1195G>T (p.Val399Phe) c.1213G>T (p.Val405Phe) | |
2 | g.127428780T>A | CA348406312 | PROC | c.1220T>A (p.Val407Asp) c.544T>A c.1322T>A (p.Val441Asp) c.1403T>A (p.Val468Asp) c.1385T>A (p.Val462Asp) c.1283T>A (p.Val428Asp) n.1332-516A>T c.1463T>A (p.Val488Asp) c.1565T>A (p.Val522Asp) c.1505T>A (p.Val502Asp) n.3607-516A>T n.4043-516A>T c.1388T>A (p.Val463Asp) c.1406T>A (p.Val469Asp) c.1163T>A (p.Val388Asp) c.1196T>A (p.Val399Asp) c.1214T>A (p.Val405Asp) | |
2 | g.127428780T>C | CA348406314 | PROC | c.1220T>C (p.Val407Ala) c.544T>C c.1322T>C (p.Val441Ala) c.1403T>C (p.Val468Ala) c.1385T>C (p.Val462Ala) c.1283T>C (p.Val428Ala) n.1332-516A>G c.1463T>C (p.Val488Ala) c.1565T>C (p.Val522Ala) c.1505T>C (p.Val502Ala) n.3607-516A>G n.4043-516A>G c.1388T>C (p.Val463Ala) c.1406T>C (p.Val469Ala) c.1163T>C (p.Val388Ala) c.1196T>C (p.Val399Ala) c.1214T>C (p.Val405Ala) | |
2 | g.127428780T>G | CA348406316 | PROC | c.1220T>G (p.Val407Gly) c.544T>G c.1322T>G (p.Val441Gly) c.1403T>G (p.Val468Gly) c.1385T>G (p.Val462Gly) c.1283T>G (p.Val428Gly) n.1332-516A>C c.1463T>G (p.Val488Gly) c.1565T>G (p.Val522Gly) c.1505T>G (p.Val502Gly) n.3607-516A>C n.4043-516A>C c.1388T>G (p.Val463Gly) c.1406T>G (p.Val469Gly) c.1163T>G (p.Val388Gly) c.1196T>G (p.Val399Gly) c.1214T>G (p.Val405Gly) | dbSNP |
2 | g.127428780T= | CA1286884646 | PROC | c.1220T= (p.Val407=) c.544T= c.1322T= (p.Val441=) c.1403T= (p.Val468=) c.1385T= (p.Val462=) c.1283T= (p.Val428=) n.1332-516A= c.1463T= (p.Val488=) c.1565T= (p.Val522=) c.1505T= (p.Val502=) n.3607-516A= n.4043-516A= c.1388T= (p.Val463=) c.1406T= (p.Val469=) c.1163T= (p.Val388=) c.1196T= (p.Val399=) c.1214T= (p.Val405=) | |
2 | g.127428781C>A | CA428872528 | PROC | c.1221C>A (p.Val407=) c.545C>A c.1323C>A (p.Val441=) c.1404C>A (p.Val468=) c.1386C>A (p.Val462=) c.1284C>A (p.Val428=) n.1332-517G>T c.1464C>A (p.Val488=) c.1566C>A (p.Val522=) c.1506C>A (p.Val502=) n.3607-517G>T n.4043-517G>T c.1389C>A (p.Val463=) c.1407C>A (p.Val469=) c.1164C>A (p.Val388=) c.1197C>A (p.Val399=) c.1215C>A (p.Val405=) | gnomAD v4 |
2 | g.127428781C= | CA1286884647 | PROC | c.1221C= (p.Val407=) c.545C= c.1323C= (p.Val441=) c.1404C= (p.Val468=) c.1386C= (p.Val462=) c.1284C= (p.Val428=) n.1332-517G= c.1464C= (p.Val488=) c.1566C= (p.Val522=) c.1506C= (p.Val502=) n.3607-517G= n.4043-517G= c.1389C= (p.Val463=) c.1407C= (p.Val469=) c.1164C= (p.Val388=) c.1197C= (p.Val399=) c.1215C= (p.Val405=) | |
2 | g.127428781C>G | CA428872531 | PROC | c.1221C>G (p.Val407=) c.545C>G c.1323C>G (p.Val441=) c.1404C>G (p.Val468=) c.1386C>G (p.Val462=) c.1284C>G (p.Val428=) n.1332-517G>C c.1464C>G (p.Val488=) c.1566C>G (p.Val522=) c.1506C>G (p.Val502=) n.3607-517G>C n.4043-517G>C c.1389C>G (p.Val463=) c.1407C>G (p.Val469=) c.1164C>G (p.Val388=) c.1197C>G (p.Val399=) c.1215C>G (p.Val405=) | dbSNP gnomAD v4 |
2 | g.127428781C>T | CA1859549 | PROC | c.1221C>T (p.Val407=) c.545C>T c.1323C>T (p.Val441=) c.1404C>T (p.Val468=) c.1386C>T (p.Val462=) c.1284C>T (p.Val428=) n.1332-517G>A c.1464C>T (p.Val488=) c.1566C>T (p.Val522=) c.1506C>T (p.Val502=) n.3607-517G>A n.4043-517G>A c.1389C>T (p.Val463=) c.1407C>T (p.Val469=) c.1164C>T (p.Val388=) c.1197C>T (p.Val399=) c.1215C>T (p.Val405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428782G>A | CA1859550 | PROC | c.1222G>A (p.Ala408Thr) c.546G>A c.1324G>A (p.Ala442Thr) c.1405G>A (p.Ala469Thr) c.1387G>A (p.Ala463Thr) c.1285G>A (p.Ala429Thr) n.1332-518C>T c.1465G>A (p.Ala489Thr) c.1567G>A (p.Ala523Thr) c.1507G>A (p.Ala503Thr) n.3607-518C>T n.4043-518C>T c.1390G>A (p.Ala464Thr) c.1408G>A (p.Ala470Thr) c.1165G>A (p.Ala389Thr) c.1198G>A (p.Ala400Thr) c.1216G>A (p.Ala406Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428782G>C | CA348406322 | PROC | c.1222G>C (p.Ala408Pro) c.546G>C c.1324G>C (p.Ala442Pro) c.1405G>C (p.Ala469Pro) c.1387G>C (p.Ala463Pro) c.1285G>C (p.Ala429Pro) n.1332-518C>G c.1465G>C (p.Ala489Pro) c.1567G>C (p.Ala523Pro) c.1507G>C (p.Ala503Pro) n.3607-518C>G n.4043-518C>G c.1390G>C (p.Ala464Pro) c.1408G>C (p.Ala470Pro) c.1165G>C (p.Ala389Pro) c.1198G>C (p.Ala400Pro) c.1216G>C (p.Ala406Pro) | |
2 | g.127428782G= | CA1286884648 | PROC | c.1222G= (p.Ala408=) c.546G= c.1324G= (p.Ala442=) c.1405G= (p.Ala469=) c.1387G= (p.Ala463=) c.1285G= (p.Ala429=) n.1332-518C= c.1465G= (p.Ala489=) c.1567G= (p.Ala523=) c.1507G= (p.Ala503=) n.3607-518C= n.4043-518C= c.1390G= (p.Ala464=) c.1408G= (p.Ala470=) c.1165G= (p.Ala389=) c.1198G= (p.Ala400=) c.1216G= (p.Ala406=) | |
2 | g.127428782G>T | CA348406324 | PROC | c.1222G>T (p.Ala408Ser) c.546G>T c.1324G>T (p.Ala442Ser) c.1405G>T (p.Ala469Ser) c.1387G>T (p.Ala463Ser) c.1285G>T (p.Ala429Ser) n.1332-518C>A c.1465G>T (p.Ala489Ser) c.1567G>T (p.Ala523Ser) c.1507G>T (p.Ala503Ser) n.3607-518C>A n.4043-518C>A c.1390G>T (p.Ala464Ser) c.1408G>T (p.Ala470Ser) c.1165G>T (p.Ala389Ser) c.1198G>T (p.Ala400Ser) c.1216G>T (p.Ala406Ser) | |
2 | g.127428783C>A | CA348406326 | PROC | c.1223C>A (p.Ala408Asp) c.547C>A c.1325C>A (p.Ala442Asp) c.1406C>A (p.Ala469Asp) c.1388C>A (p.Ala463Asp) c.1286C>A (p.Ala429Asp) n.1332-519G>T c.1466C>A (p.Ala489Asp) c.1568C>A (p.Ala523Asp) c.1508C>A (p.Ala503Asp) n.3607-519G>T n.4043-519G>T c.1391C>A (p.Ala464Asp) c.1409C>A (p.Ala470Asp) c.1166C>A (p.Ala389Asp) c.1199C>A (p.Ala400Asp) c.1217C>A (p.Ala406Asp) | |
2 | g.127428783C= | CA1286884649 | PROC | c.1223C= (p.Ala408=) c.547C= c.1325C= (p.Ala442=) c.1406C= (p.Ala469=) c.1388C= (p.Ala463=) c.1286C= (p.Ala429=) n.1332-519G= c.1466C= (p.Ala489=) c.1568C= (p.Ala523=) c.1508C= (p.Ala503=) n.3607-519G= n.4043-519G= c.1391C= (p.Ala464=) c.1409C= (p.Ala470=) c.1166C= (p.Ala389=) c.1199C= (p.Ala400=) c.1217C= (p.Ala406=) | |
2 | g.127428783C>G | CA348406328 | PROC | c.1223C>G (p.Ala408Gly) c.547C>G c.1325C>G (p.Ala442Gly) c.1406C>G (p.Ala469Gly) c.1388C>G (p.Ala463Gly) c.1286C>G (p.Ala429Gly) n.1332-519G>C c.1466C>G (p.Ala489Gly) c.1568C>G (p.Ala523Gly) c.1508C>G (p.Ala503Gly) n.3607-519G>C n.4043-519G>C c.1391C>G (p.Ala464Gly) c.1409C>G (p.Ala470Gly) c.1166C>G (p.Ala389Gly) c.1199C>G (p.Ala400Gly) c.1217C>G (p.Ala406Gly) | |
2 | g.127428783C>T | CA348406329 | PROC | c.1223C>T (p.Ala408Val) c.547C>T c.1325C>T (p.Ala442Val) c.1406C>T (p.Ala469Val) c.1388C>T (p.Ala463Val) c.1286C>T (p.Ala429Val) n.1332-519G>A c.1466C>T (p.Ala489Val) c.1568C>T (p.Ala523Val) c.1508C>T (p.Ala503Val) n.3607-519G>A n.4043-519G>A c.1391C>T (p.Ala464Val) c.1409C>T (p.Ala470Val) c.1166C>T (p.Ala389Val) c.1199C>T (p.Ala400Val) c.1217C>T (p.Ala406Val) | dbSNP gnomAD v4 |
2 | g.127428784C>A | CA428872551 | PROC | c.1224C>A (p.Ala408=) c.548C>A c.1326C>A (p.Ala442=) c.1407C>A (p.Ala469=) c.1389C>A (p.Ala463=) c.1287C>A (p.Ala429=) n.1332-520G>T c.1467C>A (p.Ala489=) c.1569C>A (p.Ala523=) c.1509C>A (p.Ala503=) n.3607-520G>T n.4043-520G>T c.1392C>A (p.Ala464=) c.1410C>A (p.Ala470=) c.1167C>A (p.Ala389=) c.1200C>A (p.Ala400=) c.1218C>A (p.Ala406=) | |
2 | g.127428784C>G | CA428872554 | PROC | c.1224C>G (p.Ala408=) c.548C>G c.1326C>G (p.Ala442=) c.1407C>G (p.Ala469=) c.1389C>G (p.Ala463=) c.1287C>G (p.Ala429=) n.1332-520G>C c.1467C>G (p.Ala489=) c.1569C>G (p.Ala523=) c.1509C>G (p.Ala503=) n.3607-520G>C n.4043-520G>C c.1392C>G (p.Ala464=) c.1410C>G (p.Ala470=) c.1167C>G (p.Ala389=) c.1200C>G (p.Ala400=) c.1218C>G (p.Ala406=) | |
2 | g.127428784C>T | CA428872556 | PROC | c.1224C>T (p.Ala408=) c.548C>T c.1326C>T (p.Ala442=) c.1407C>T (p.Ala469=) c.1389C>T (p.Ala463=) c.1287C>T (p.Ala429=) n.1332-520G>A c.1467C>T (p.Ala489=) c.1569C>T (p.Ala523=) c.1509C>T (p.Ala503=) n.3607-520G>A n.4043-520G>A c.1392C>T (p.Ala464=) c.1410C>T (p.Ala470=) c.1167C>T (p.Ala389=) c.1200C>T (p.Ala400=) c.1218C>T (p.Ala406=) | |
2 | g.127428785T>A | CA348406331 | PROC | c.1225T>A (p.Ser409Thr) c.549T>A c.1327T>A (p.Ser443Thr) c.1408T>A (p.Ser470Thr) c.1390T>A (p.Ser464Thr) c.1288T>A (p.Ser430Thr) n.1332-521A>T c.1468T>A (p.Ser490Thr) c.1570T>A (p.Ser524Thr) c.1510T>A (p.Ser504Thr) n.3607-521A>T n.4043-521A>T c.1393T>A (p.Ser465Thr) c.1411T>A (p.Ser471Thr) c.1168T>A (p.Ser390Thr) c.1201T>A (p.Ser401Thr) c.1219T>A (p.Ser407Thr) | |
2 | g.127428785T>C | CA348406334 | PROC | c.1225T>C (p.Ser409Pro) c.549T>C c.1327T>C (p.Ser443Pro) c.1408T>C (p.Ser470Pro) c.1390T>C (p.Ser464Pro) c.1288T>C (p.Ser430Pro) n.1332-521A>G c.1468T>C (p.Ser490Pro) c.1570T>C (p.Ser524Pro) c.1510T>C (p.Ser504Pro) n.3607-521A>G n.4043-521A>G c.1393T>C (p.Ser465Pro) c.1411T>C (p.Ser471Pro) c.1168T>C (p.Ser390Pro) c.1201T>C (p.Ser401Pro) c.1219T>C (p.Ser407Pro) | |
2 | g.127428785T>G | CA348406335 | PROC | c.1225T>G (p.Ser409Ala) c.549T>G c.1327T>G (p.Ser443Ala) c.1408T>G (p.Ser470Ala) c.1390T>G (p.Ser464Ala) c.1288T>G (p.Ser430Ala) n.1332-521A>C c.1468T>G (p.Ser490Ala) c.1570T>G (p.Ser524Ala) c.1510T>G (p.Ser504Ala) n.3607-521A>C n.4043-521A>C c.1393T>G (p.Ser465Ala) c.1411T>G (p.Ser471Ala) c.1168T>G (p.Ser390Ala) c.1201T>G (p.Ser401Ala) c.1219T>G (p.Ser407Ala) | |
2 | g.127428786C>A | CA348406337 | PROC | c.1226C>A (p.Ser409Tyr) c.550C>A c.1328C>A (p.Ser443Tyr) c.1409C>A (p.Ser470Tyr) c.1391C>A (p.Ser464Tyr) c.1289C>A (p.Ser430Tyr) n.1332-522G>T c.1469C>A (p.Ser490Tyr) c.1571C>A (p.Ser524Tyr) c.1511C>A (p.Ser504Tyr) n.3607-522G>T n.4043-522G>T c.1394C>A (p.Ser465Tyr) c.1412C>A (p.Ser471Tyr) c.1169C>A (p.Ser390Tyr) c.1202C>A (p.Ser401Tyr) c.1220C>A (p.Ser407Tyr) | gnomAD v4 |
2 | g.127428786C= | CA1286884650 | PROC | c.1226C= (p.Ser409=) c.550C= c.1328C= (p.Ser443=) c.1409C= (p.Ser470=) c.1391C= (p.Ser464=) c.1289C= (p.Ser430=) n.1332-522G= c.1469C= (p.Ser490=) c.1571C= (p.Ser524=) c.1511C= (p.Ser504=) n.3607-522G= n.4043-522G= c.1394C= (p.Ser465=) c.1412C= (p.Ser471=) c.1169C= (p.Ser390=) c.1202C= (p.Ser401=) c.1220C= (p.Ser407=) | |
2 | g.127428786C>G | CA348406339 | PROC | c.1226C>G (p.Ser409Cys) c.550C>G c.1328C>G (p.Ser443Cys) c.1409C>G (p.Ser470Cys) c.1391C>G (p.Ser464Cys) c.1289C>G (p.Ser430Cys) n.1332-522G>C c.1469C>G (p.Ser490Cys) c.1571C>G (p.Ser524Cys) c.1511C>G (p.Ser504Cys) n.3607-522G>C n.4043-522G>C c.1394C>G (p.Ser465Cys) c.1412C>G (p.Ser471Cys) c.1169C>G (p.Ser390Cys) c.1202C>G (p.Ser401Cys) c.1220C>G (p.Ser407Cys) | |
2 | g.127428786C>T | CA348406340 | PROC | c.1226C>T (p.Ser409Phe) c.550C>T c.1328C>T (p.Ser443Phe) c.1409C>T (p.Ser470Phe) c.1391C>T (p.Ser464Phe) c.1289C>T (p.Ser430Phe) n.1332-522G>A c.1469C>T (p.Ser490Phe) c.1571C>T (p.Ser524Phe) c.1511C>T (p.Ser504Phe) n.3607-522G>A n.4043-522G>A c.1394C>T (p.Ser465Phe) c.1412C>T (p.Ser471Phe) c.1169C>T (p.Ser390Phe) c.1202C>T (p.Ser401Phe) c.1220C>T (p.Ser407Phe) | dbSNP gnomAD v4 |
2 | g.127428787C>A | CA428872574 | PROC | c.1227C>A (p.Ser409=) c.551C>A c.1329C>A (p.Ser443=) c.1410C>A (p.Ser470=) c.1392C>A (p.Ser464=) c.1290C>A (p.Ser430=) n.1332-523G>T c.1470C>A (p.Ser490=) c.1572C>A (p.Ser524=) c.1512C>A (p.Ser504=) n.3607-523G>T n.4043-523G>T c.1395C>A (p.Ser465=) c.1413C>A (p.Ser471=) c.1170C>A (p.Ser390=) c.1203C>A (p.Ser401=) c.1221C>A (p.Ser407=) | |
2 | g.127428787C>G | CA428872580 | PROC | c.1227C>G (p.Ser409=) c.551C>G c.1329C>G (p.Ser443=) c.1410C>G (p.Ser470=) c.1392C>G (p.Ser464=) c.1290C>G (p.Ser430=) n.1332-523G>C c.1470C>G (p.Ser490=) c.1572C>G (p.Ser524=) c.1512C>G (p.Ser504=) n.3607-523G>C n.4043-523G>C c.1395C>G (p.Ser465=) c.1413C>G (p.Ser471=) c.1170C>G (p.Ser390=) c.1203C>G (p.Ser401=) c.1221C>G (p.Ser407=) | gnomAD v4 |
2 | g.127428787C>T | CA428872577 | PROC | c.1227C>T (p.Ser409=) c.551C>T c.1329C>T (p.Ser443=) c.1410C>T (p.Ser470=) c.1392C>T (p.Ser464=) c.1290C>T (p.Ser430=) n.1332-523G>A c.1470C>T (p.Ser490=) c.1572C>T (p.Ser524=) c.1512C>T (p.Ser504=) n.3607-523G>A n.4043-523G>A c.1395C>T (p.Ser465=) c.1413C>T (p.Ser471=) c.1170C>T (p.Ser390=) c.1203C>T (p.Ser401=) c.1221C>T (p.Ser407=) | |
2 | g.127428788T>A | CA348406343 | PROC | c.1228T>A (p.Phe410Ile) c.552T>A c.1330T>A (p.Phe444Ile) c.1411T>A (p.Phe471Ile) c.1393T>A (p.Phe465Ile) c.1291T>A (p.Phe431Ile) n.1332-524A>T c.1471T>A (p.Phe491Ile) c.1573T>A (p.Phe525Ile) c.1513T>A (p.Phe505Ile) n.3607-524A>T n.4043-524A>T c.1396T>A (p.Phe466Ile) c.1414T>A (p.Phe472Ile) c.1171T>A (p.Phe391Ile) c.1204T>A (p.Phe402Ile) c.1222T>A (p.Phe408Ile) | |
2 | g.127428788T>C | CA348406345 | PROC | c.1228T>C (p.Phe410Leu) c.552T>C c.1330T>C (p.Phe444Leu) c.1411T>C (p.Phe471Leu) c.1393T>C (p.Phe465Leu) c.1291T>C (p.Phe431Leu) n.1332-524A>G c.1471T>C (p.Phe491Leu) c.1573T>C (p.Phe525Leu) c.1513T>C (p.Phe505Leu) n.3607-524A>G n.4043-524A>G c.1396T>C (p.Phe466Leu) c.1414T>C (p.Phe472Leu) c.1171T>C (p.Phe391Leu) c.1204T>C (p.Phe402Leu) c.1222T>C (p.Phe408Leu) | |
2 | g.127428788T>G | CA348406342 | PROC | c.1228T>G (p.Phe410Val) c.552T>G c.1330T>G (p.Phe444Val) c.1411T>G (p.Phe471Val) c.1393T>G (p.Phe465Val) c.1291T>G (p.Phe431Val) n.1332-524A>C c.1471T>G (p.Phe491Val) c.1573T>G (p.Phe525Val) c.1513T>G (p.Phe505Val) n.3607-524A>C n.4043-524A>C c.1396T>G (p.Phe466Val) c.1414T>G (p.Phe472Val) c.1171T>G (p.Phe391Val) c.1204T>G (p.Phe402Val) c.1222T>G (p.Phe408Val) | |
2 | g.127428789T>A | CA348406346 | PROC | c.1229T>A (p.Phe410Tyr) c.553T>A c.1331T>A (p.Phe444Tyr) c.1412T>A (p.Phe471Tyr) c.1394T>A (p.Phe465Tyr) c.1292T>A (p.Phe431Tyr) n.1332-525A>T c.1472T>A (p.Phe491Tyr) c.1574T>A (p.Phe525Tyr) c.1514T>A (p.Phe505Tyr) n.3607-525A>T n.4043-525A>T c.1397T>A (p.Phe466Tyr) c.1415T>A (p.Phe472Tyr) c.1172T>A (p.Phe391Tyr) c.1205T>A (p.Phe402Tyr) c.1223T>A (p.Phe408Tyr) | |
2 | g.127428789T>C | CA348406348 | PROC | c.1229T>C (p.Phe410Ser) c.553T>C c.1331T>C (p.Phe444Ser) c.1412T>C (p.Phe471Ser) c.1394T>C (p.Phe465Ser) c.1292T>C (p.Phe431Ser) n.1332-525A>G c.1472T>C (p.Phe491Ser) c.1574T>C (p.Phe525Ser) c.1514T>C (p.Phe505Ser) n.3607-525A>G n.4043-525A>G c.1397T>C (p.Phe466Ser) c.1415T>C (p.Phe472Ser) c.1172T>C (p.Phe391Ser) c.1205T>C (p.Phe402Ser) c.1223T>C (p.Phe408Ser) | dbSNP |
2 | g.127428789T>G | CA348406349 | PROC | c.1229T>G (p.Phe410Cys) c.553T>G c.1331T>G (p.Phe444Cys) c.1412T>G (p.Phe471Cys) c.1394T>G (p.Phe465Cys) c.1292T>G (p.Phe431Cys) n.1332-525A>C c.1472T>G (p.Phe491Cys) c.1574T>G (p.Phe525Cys) c.1514T>G (p.Phe505Cys) n.3607-525A>C n.4043-525A>C c.1397T>G (p.Phe466Cys) c.1415T>G (p.Phe472Cys) c.1172T>G (p.Phe391Cys) c.1205T>G (p.Phe402Cys) c.1223T>G (p.Phe408Cys) | |
2 | g.127428789T= | CA1286884651 | PROC | c.1229T= (p.Phe410=) c.553T= c.1331T= (p.Phe444=) c.1412T= (p.Phe471=) c.1394T= (p.Phe465=) c.1292T= (p.Phe431=) n.1332-525A= c.1472T= (p.Phe491=) c.1574T= (p.Phe525=) c.1514T= (p.Phe505=) n.3607-525A= n.4043-525A= c.1397T= (p.Phe466=) c.1415T= (p.Phe472=) c.1172T= (p.Phe391=) c.1205T= (p.Phe402=) c.1223T= (p.Phe408=) | |
2 | g.127428790C>A | CA348406353 | PROC | c.1230C>A (p.Phe410Leu) c.554C>A c.1332C>A (p.Phe444Leu) c.1413C>A (p.Phe471Leu) c.1395C>A (p.Phe465Leu) c.1293C>A (p.Phe431Leu) n.1332-526G>T c.1473C>A (p.Phe491Leu) c.1575C>A (p.Phe525Leu) c.1515C>A (p.Phe505Leu) n.3607-526G>T n.4043-526G>T c.1398C>A (p.Phe466Leu) c.1416C>A (p.Phe472Leu) c.1173C>A (p.Phe391Leu) c.1206C>A (p.Phe402Leu) c.1224C>A (p.Phe408Leu) | |
2 | g.127428790C= | CA1286884652 | PROC | c.1230C= (p.Phe410=) c.554C= c.1332C= (p.Phe444=) c.1413C= (p.Phe471=) c.1395C= (p.Phe465=) c.1293C= (p.Phe431=) n.1332-526G= c.1473C= (p.Phe491=) c.1575C= (p.Phe525=) c.1515C= (p.Phe505=) n.3607-526G= n.4043-526G= c.1398C= (p.Phe466=) c.1416C= (p.Phe472=) c.1173C= (p.Phe391=) c.1206C= (p.Phe402=) c.1224C= (p.Phe408=) | |
2 | g.127428790C>G | CA348406354 | PROC | c.1230C>G (p.Phe410Leu) c.554C>G c.1332C>G (p.Phe444Leu) c.1413C>G (p.Phe471Leu) c.1395C>G (p.Phe465Leu) c.1293C>G (p.Phe431Leu) n.1332-526G>C c.1473C>G (p.Phe491Leu) c.1575C>G (p.Phe525Leu) c.1515C>G (p.Phe505Leu) n.3607-526G>C n.4043-526G>C c.1398C>G (p.Phe466Leu) c.1416C>G (p.Phe472Leu) c.1173C>G (p.Phe391Leu) c.1206C>G (p.Phe402Leu) c.1224C>G (p.Phe408Leu) | |
2 | g.127428790C>T | CA428872601 | PROC | c.1230C>T (p.Phe410=) c.554C>T c.1332C>T (p.Phe444=) c.1413C>T (p.Phe471=) c.1395C>T (p.Phe465=) c.1293C>T (p.Phe431=) n.1332-526G>A c.1473C>T (p.Phe491=) c.1575C>T (p.Phe525=) c.1515C>T (p.Phe505=) n.3607-526G>A n.4043-526G>A c.1398C>T (p.Phe466=) c.1416C>T (p.Phe472=) c.1173C>T (p.Phe391=) c.1206C>T (p.Phe402=) c.1224C>T (p.Phe408=) | ClinVar dbSNP |
2 | g.127428791C>A | CA348406359 | PROC | c.1231C>A (p.His411Asn) c.555C>A c.1333C>A (p.His445Asn) c.1414C>A (p.His472Asn) c.1396C>A (p.His466Asn) c.1294C>A (p.His432Asn) n.1332-527G>T c.1474C>A (p.His492Asn) c.1576C>A (p.His526Asn) c.1516C>A (p.His506Asn) n.3607-527G>T n.4043-527G>T c.1399C>A (p.His467Asn) c.1417C>A (p.His473Asn) c.1174C>A (p.His392Asn) c.1207C>A (p.His403Asn) c.1225C>A (p.His409Asn) | |
2 | g.127428791C= | CA1286884653 | PROC | c.1231C= (p.His411=) c.555C= c.1333C= (p.His445=) c.1414C= (p.His472=) c.1396C= (p.His466=) c.1294C= (p.His432=) n.1332-527G= c.1474C= (p.His492=) c.1576C= (p.His526=) c.1516C= (p.His506=) n.3607-527G= n.4043-527G= c.1399C= (p.His467=) c.1417C= (p.His473=) c.1174C= (p.His392=) c.1207C= (p.His403=) c.1225C= (p.His409=) | |
2 | g.127428791C>G | CA348406357 | PROC | c.1231C>G (p.His411Asp) c.555C>G c.1333C>G (p.His445Asp) c.1414C>G (p.His472Asp) c.1396C>G (p.His466Asp) c.1294C>G (p.His432Asp) n.1332-527G>C c.1474C>G (p.His492Asp) c.1576C>G (p.His526Asp) c.1516C>G (p.His506Asp) n.3607-527G>C n.4043-527G>C c.1399C>G (p.His467Asp) c.1417C>G (p.His473Asp) c.1174C>G (p.His392Asp) c.1207C>G (p.His403Asp) c.1225C>G (p.His409Asp) | |
2 | g.127428791C>T | CA348406356 | PROC | c.1231C>T (p.His411Tyr) c.555C>T c.1333C>T (p.His445Tyr) c.1414C>T (p.His472Tyr) c.1396C>T (p.His466Tyr) c.1294C>T (p.His432Tyr) n.1332-527G>A c.1474C>T (p.His492Tyr) c.1576C>T (p.His526Tyr) c.1516C>T (p.His506Tyr) n.3607-527G>A n.4043-527G>A c.1399C>T (p.His467Tyr) c.1417C>T (p.His473Tyr) c.1174C>T (p.His392Tyr) c.1207C>T (p.His403Tyr) c.1225C>T (p.His409Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428792A= | CA1286884654 | PROC | c.1232A= (p.His411=) c.556A= c.1334A= (p.His445=) c.1415A= (p.His472=) c.1397A= (p.His466=) c.1295A= (p.His432=) n.1332-528T= c.1475A= (p.His492=) c.1577A= (p.His526=) c.1517A= (p.His506=) n.3607-528T= n.4043-528T= c.1400A= (p.His467=) c.1418A= (p.His473=) c.1175A= (p.His392=) c.1208A= (p.His403=) c.1226A= (p.His409=) | |
2 | g.127428792A>C | CA348406362 | PROC | c.1232A>C (p.His411Pro) c.556A>C c.1334A>C (p.His445Pro) c.1415A>C (p.His472Pro) c.1397A>C (p.His466Pro) c.1295A>C (p.His432Pro) n.1332-528T>G c.1475A>C (p.His492Pro) c.1577A>C (p.His526Pro) c.1517A>C (p.His506Pro) n.3607-528T>G n.4043-528T>G c.1400A>C (p.His467Pro) c.1418A>C (p.His473Pro) c.1175A>C (p.His392Pro) c.1208A>C (p.His403Pro) c.1226A>C (p.His409Pro) | |
2 | g.127428792A>G | CA348406364 | PROC | c.1232A>G (p.His411Arg) c.556A>G c.1334A>G (p.His445Arg) c.1415A>G (p.His472Arg) c.1397A>G (p.His466Arg) c.1295A>G (p.His432Arg) n.1332-528T>C c.1475A>G (p.His492Arg) c.1577A>G (p.His526Arg) c.1517A>G (p.His506Arg) n.3607-528T>C n.4043-528T>C c.1400A>G (p.His467Arg) c.1418A>G (p.His473Arg) c.1175A>G (p.His392Arg) c.1208A>G (p.His403Arg) c.1226A>G (p.His409Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428792A>T | CA348406365 | PROC | c.1232A>T (p.His411Leu) c.556A>T c.1334A>T (p.His445Leu) c.1415A>T (p.His472Leu) c.1397A>T (p.His466Leu) c.1295A>T (p.His432Leu) n.1332-528T>A c.1475A>T (p.His492Leu) c.1577A>T (p.His526Leu) c.1517A>T (p.His506Leu) n.3607-528T>A n.4043-528T>A c.1400A>T (p.His467Leu) c.1418A>T (p.His473Leu) c.1175A>T (p.His392Leu) c.1208A>T (p.His403Leu) c.1226A>T (p.His409Leu) | |
2 | g.127428793C>A | CA348406367 | PROC | c.1233C>A (p.His411Gln) c.557C>A c.1335C>A (p.His445Gln) c.1416C>A (p.His472Gln) c.1398C>A (p.His466Gln) c.1296C>A (p.His432Gln) n.1332-529G>T c.1476C>A (p.His492Gln) c.1578C>A (p.His526Gln) c.1518C>A (p.His506Gln) n.3607-529G>T n.4043-529G>T c.1401C>A (p.His467Gln) c.1419C>A (p.His473Gln) c.1176C>A (p.His392Gln) c.1209C>A (p.His403Gln) c.1227C>A (p.His409Gln) | |
2 | g.127428793C= | CA1286884655 | PROC | c.1233C= (p.His411=) c.557C= c.1335C= (p.His445=) c.1416C= (p.His472=) c.1398C= (p.His466=) c.1296C= (p.His432=) n.1332-529G= c.1476C= (p.His492=) c.1578C= (p.His526=) c.1518C= (p.His506=) n.3607-529G= n.4043-529G= c.1401C= (p.His467=) c.1419C= (p.His473=) c.1176C= (p.His392=) c.1209C= (p.His403=) c.1227C= (p.His409=) | |
2 | g.127428793C>G | CA348406368 | PROC | c.1233C>G (p.His411Gln) c.557C>G c.1335C>G (p.His445Gln) c.1416C>G (p.His472Gln) c.1398C>G (p.His466Gln) c.1296C>G (p.His432Gln) n.1332-529G>C c.1476C>G (p.His492Gln) c.1578C>G (p.His526Gln) c.1518C>G (p.His506Gln) n.3607-529G>C n.4043-529G>C c.1401C>G (p.His467Gln) c.1419C>G (p.His473Gln) c.1176C>G (p.His392Gln) c.1209C>G (p.His403Gln) c.1227C>G (p.His409Gln) | dbSNP |
2 | g.127428793C>T | CA1859551 | PROC | c.1233C>T (p.His411=) c.557C>T c.1335C>T (p.His445=) c.1416C>T (p.His472=) c.1398C>T (p.His466=) c.1296C>T (p.His432=) n.1332-529G>A c.1476C>T (p.His492=) c.1578C>T (p.His526=) c.1518C>T (p.His506=) n.3607-529G>A n.4043-529G>A c.1401C>T (p.His467=) c.1419C>T (p.His473=) c.1176C>T (p.His392=) c.1209C>T (p.His403=) c.1227C>T (p.His409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428794G>A | CA211715 | PROC | c.1234G>A (p.Gly412Ser) c.558G>A c.1336G>A (p.Gly446Ser) c.1417G>A (p.Gly473Ser) c.1399G>A (p.Gly467Ser) c.1297G>A (p.Gly433Ser) n.1332-530C>T c.1477G>A (p.Gly493Ser) c.1579G>A (p.Gly527Ser) c.1519G>A (p.Gly507Ser) n.3607-530C>T n.4043-530C>T c.1402G>A (p.Gly468Ser) c.1420G>A (p.Gly474Ser) c.1177G>A (p.Gly393Ser) c.1210G>A (p.Gly404Ser) c.1228G>A (p.Gly410Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428794G>C | CA348406374 | PROC | c.1234G>C (p.Gly412Arg) c.558G>C c.1336G>C (p.Gly446Arg) c.1417G>C (p.Gly473Arg) c.1399G>C (p.Gly467Arg) c.1297G>C (p.Gly433Arg) n.1332-530C>G c.1477G>C (p.Gly493Arg) c.1579G>C (p.Gly527Arg) c.1519G>C (p.Gly507Arg) n.3607-530C>G n.4043-530C>G c.1402G>C (p.Gly468Arg) c.1420G>C (p.Gly474Arg) c.1177G>C (p.Gly393Arg) c.1210G>C (p.Gly404Arg) c.1228G>C (p.Gly410Arg) | |
2 | g.127428794G= | CA1286884656 | PROC | c.1234G= (p.Gly412=) c.558G= c.1336G= (p.Gly446=) c.1417G= (p.Gly473=) c.1399G= (p.Gly467=) c.1297G= (p.Gly433=) n.1332-530C= c.1477G= (p.Gly493=) c.1579G= (p.Gly527=) c.1519G= (p.Gly507=) n.3607-530C= n.4043-530C= c.1402G= (p.Gly468=) c.1420G= (p.Gly474=) c.1177G= (p.Gly393=) c.1210G= (p.Gly404=) c.1228G= (p.Gly410=) | |
2 | g.127428794G>T | CA348406372 | PROC | c.1234G>T (p.Gly412Cys) c.558G>T c.1336G>T (p.Gly446Cys) c.1417G>T (p.Gly473Cys) c.1399G>T (p.Gly467Cys) c.1297G>T (p.Gly433Cys) n.1332-530C>A c.1477G>T (p.Gly493Cys) c.1579G>T (p.Gly527Cys) c.1519G>T (p.Gly507Cys) n.3607-530C>A n.4043-530C>A c.1402G>T (p.Gly468Cys) c.1420G>T (p.Gly474Cys) c.1177G>T (p.Gly393Cys) c.1210G>T (p.Gly404Cys) c.1228G>T (p.Gly410Cys) | |
2 | g.127428795G>A | CA348406377 | PROC | c.1235G>A (p.Gly412Asp) c.559G>A c.1337G>A (p.Gly446Asp) c.1418G>A (p.Gly473Asp) c.1400G>A (p.Gly467Asp) c.1298G>A (p.Gly433Asp) n.1332-531C>T c.1478G>A (p.Gly493Asp) c.1580G>A (p.Gly527Asp) c.1520G>A (p.Gly507Asp) n.3607-531C>T n.4043-531C>T c.1403G>A (p.Gly468Asp) c.1421G>A (p.Gly474Asp) c.1178G>A (p.Gly393Asp) c.1211G>A (p.Gly404Asp) c.1229G>A (p.Gly410Asp) | COSMIC |
2 | g.127428795G>C | CA348406378 | PROC | c.1235G>C (p.Gly412Ala) c.559G>C c.1337G>C (p.Gly446Ala) c.1418G>C (p.Gly473Ala) c.1400G>C (p.Gly467Ala) c.1298G>C (p.Gly433Ala) n.1332-531C>G c.1478G>C (p.Gly493Ala) c.1580G>C (p.Gly527Ala) c.1520G>C (p.Gly507Ala) n.3607-531C>G n.4043-531C>G c.1403G>C (p.Gly468Ala) c.1421G>C (p.Gly474Ala) c.1178G>C (p.Gly393Ala) c.1211G>C (p.Gly404Ala) c.1229G>C (p.Gly410Ala) | |
2 | g.127428795G>T | CA348406380 | PROC | c.1235G>T (p.Gly412Val) c.559G>T c.1337G>T (p.Gly446Val) c.1418G>T (p.Gly473Val) c.1400G>T (p.Gly467Val) c.1298G>T (p.Gly433Val) n.1332-531C>A c.1478G>T (p.Gly493Val) c.1580G>T (p.Gly527Val) c.1520G>T (p.Gly507Val) n.3607-531C>A n.4043-531C>A c.1403G>T (p.Gly468Val) c.1421G>T (p.Gly474Val) c.1178G>T (p.Gly393Val) c.1211G>T (p.Gly404Val) c.1229G>T (p.Gly410Val) | |
2 | g.127428796C>A | CA428872640 | PROC | c.1236C>A (p.Gly412=) c.560C>A c.1338C>A (p.Gly446=) c.1419C>A (p.Gly473=) c.1401C>A (p.Gly467=) c.1299C>A (p.Gly433=) n.1332-532G>T c.1479C>A (p.Gly493=) c.1581C>A (p.Gly527=) c.1521C>A (p.Gly507=) n.3607-532G>T n.4043-532G>T c.1404C>A (p.Gly468=) c.1422C>A (p.Gly474=) c.1179C>A (p.Gly393=) c.1212C>A (p.Gly404=) c.1230C>A (p.Gly410=) | |
2 | g.127428796C= | CA1286884657 | PROC | c.1236C= (p.Gly412=) c.560C= c.1338C= (p.Gly446=) c.1419C= (p.Gly473=) c.1401C= (p.Gly467=) c.1299C= (p.Gly433=) n.1332-532G= c.1479C= (p.Gly493=) c.1581C= (p.Gly527=) c.1521C= (p.Gly507=) n.3607-532G= n.4043-532G= c.1404C= (p.Gly468=) c.1422C= (p.Gly474=) c.1179C= (p.Gly393=) c.1212C= (p.Gly404=) c.1230C= (p.Gly410=) | |
2 | g.127428796C>G | CA428872642 | PROC | c.1236C>G (p.Gly412=) c.560C>G c.1338C>G (p.Gly446=) c.1419C>G (p.Gly473=) c.1401C>G (p.Gly467=) c.1299C>G (p.Gly433=) n.1332-532G>C c.1479C>G (p.Gly493=) c.1581C>G (p.Gly527=) c.1521C>G (p.Gly507=) n.3607-532G>C n.4043-532G>C c.1404C>G (p.Gly468=) c.1422C>G (p.Gly474=) c.1179C>G (p.Gly393=) c.1212C>G (p.Gly404=) c.1230C>G (p.Gly410=) | |
2 | g.127428796C>T | CA428872645 | PROC | c.1236C>T (p.Gly412=) c.560C>T c.1338C>T (p.Gly446=) c.1419C>T (p.Gly473=) c.1401C>T (p.Gly467=) c.1299C>T (p.Gly433=) n.1332-532G>A c.1479C>T (p.Gly493=) c.1581C>T (p.Gly527=) c.1521C>T (p.Gly507=) n.3607-532G>A n.4043-532G>A c.1404C>T (p.Gly468=) c.1422C>T (p.Gly474=) c.1179C>T (p.Gly393=) c.1212C>T (p.Gly404=) c.1230C>T (p.Gly410=) | dbSNP |
2 | g.127428797A= | CA1286884658 | PROC | c.1237A= (p.Thr413=) c.561A= c.1339A= (p.Thr447=) c.1420A= (p.Thr474=) c.1402A= (p.Thr468=) c.1300A= (p.Thr434=) n.1332-533T= c.1480A= (p.Thr494=) c.1582A= (p.Thr528=) c.1522A= (p.Thr508=) n.3607-533T= n.4043-533T= c.1405A= (p.Thr469=) c.1423A= (p.Thr475=) c.1180A= (p.Thr394=) c.1213A= (p.Thr405=) c.1231A= (p.Thr411=) | |
2 | g.127428797A>C | CA348406382 | PROC | c.1237A>C (p.Thr413Pro) c.561A>C c.1339A>C (p.Thr447Pro) c.1420A>C (p.Thr474Pro) c.1402A>C (p.Thr468Pro) c.1300A>C (p.Thr434Pro) n.1332-533T>G c.1480A>C (p.Thr494Pro) c.1582A>C (p.Thr528Pro) c.1522A>C (p.Thr508Pro) n.3607-533T>G n.4043-533T>G c.1405A>C (p.Thr469Pro) c.1423A>C (p.Thr475Pro) c.1180A>C (p.Thr394Pro) c.1213A>C (p.Thr405Pro) c.1231A>C (p.Thr411Pro) | |
2 | g.127428797A>G | CA1859552 | PROC | c.1237A>G (p.Thr413Ala) c.561A>G c.1339A>G (p.Thr447Ala) c.1420A>G (p.Thr474Ala) c.1402A>G (p.Thr468Ala) c.1300A>G (p.Thr434Ala) n.1332-533T>C c.1480A>G (p.Thr494Ala) c.1582A>G (p.Thr528Ala) c.1522A>G (p.Thr508Ala) n.3607-533T>C n.4043-533T>C c.1405A>G (p.Thr469Ala) c.1423A>G (p.Thr475Ala) c.1180A>G (p.Thr394Ala) c.1213A>G (p.Thr405Ala) c.1231A>G (p.Thr411Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428797A>T | CA348406385 | PROC | c.1237A>T (p.Thr413Ser) c.561A>T c.1339A>T (p.Thr447Ser) c.1420A>T (p.Thr474Ser) c.1402A>T (p.Thr468Ser) c.1300A>T (p.Thr434Ser) n.1332-533T>A c.1480A>T (p.Thr494Ser) c.1582A>T (p.Thr528Ser) c.1522A>T (p.Thr508Ser) n.3607-533T>A n.4043-533T>A c.1405A>T (p.Thr469Ser) c.1423A>T (p.Thr475Ser) c.1180A>T (p.Thr394Ser) c.1213A>T (p.Thr405Ser) c.1231A>T (p.Thr411Ser) | |
2 | g.127428797_127428798insTCATTATGGGCTACTCGCGGCAGATCTACTC | CA914468618 | PROC | c.1237_1238insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr413IlefsTer22) c.561_562insTCATTATGGGCTACTCGCGGCAGATCTACTC c.1339_1340insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr447IlefsTer22) c.1420_1421insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr474IlefsTer22) c.1402_1403insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr468IlefsTer22) c.1300_1301insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr434IlefsTer22) n.1332-534_1332-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA c.1480_1481insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr494IlefsTer22) c.1582_1583insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr528IlefsTer22) c.1522_1523insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr508IlefsTer22) n.3607-534_3607-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA n.4043-534_4043-533insGAGTAGATCTGCCGCGAGTAGCCCATAATGA c.1405_1406insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr469IlefsTer22) c.1423_1424insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr475IlefsTer22) c.1180_1181insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr394IlefsTer22) c.1213_1214insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr405IlefsTer22) c.1231_1232insTCATTATGGGCTACTCGCGGCAGATCTACTC (p.Thr411IlefsTer22) | gnomAD v2 |
2 | g.127428798C>A | CA348406386 | PROC | c.1238C>A (p.Thr413Asn) c.562C>A c.1340C>A (p.Thr447Asn) c.1421C>A (p.Thr474Asn) c.1403C>A (p.Thr468Asn) c.1301C>A (p.Thr434Asn) n.1332-534G>T c.1481C>A (p.Thr494Asn) c.1583C>A (p.Thr528Asn) c.1523C>A (p.Thr508Asn) n.3607-534G>T n.4043-534G>T c.1406C>A (p.Thr469Asn) c.1424C>A (p.Thr475Asn) c.1181C>A (p.Thr394Asn) c.1214C>A (p.Thr405Asn) c.1232C>A (p.Thr411Asn) | |
2 | g.127428798C>G | CA348406389 | PROC | c.1238C>G (p.Thr413Ser) c.562C>G c.1340C>G (p.Thr447Ser) c.1421C>G (p.Thr474Ser) c.1403C>G (p.Thr468Ser) c.1301C>G (p.Thr434Ser) n.1332-534G>C c.1481C>G (p.Thr494Ser) c.1583C>G (p.Thr528Ser) c.1523C>G (p.Thr508Ser) n.3607-534G>C n.4043-534G>C c.1406C>G (p.Thr469Ser) c.1424C>G (p.Thr475Ser) c.1181C>G (p.Thr394Ser) c.1214C>G (p.Thr405Ser) c.1232C>G (p.Thr411Ser) | |
2 | g.127428798C>T | CA348406397 | PROC | c.1238C>T (p.Thr413Ile) c.562C>T c.1340C>T (p.Thr447Ile) c.1421C>T (p.Thr474Ile) c.1403C>T (p.Thr468Ile) c.1301C>T (p.Thr434Ile) n.1332-534G>A c.1481C>T (p.Thr494Ile) c.1583C>T (p.Thr528Ile) c.1523C>T (p.Thr508Ile) n.3607-534G>A n.4043-534G>A c.1406C>T (p.Thr469Ile) c.1424C>T (p.Thr475Ile) c.1181C>T (p.Thr394Ile) c.1214C>T (p.Thr405Ile) c.1232C>T (p.Thr411Ile) | |
2 | g.127428798_127428801dup | CA2577090358 | PROC | c.1238_1241dup (p.Trp414CysfsTer12) c.562_565dup c.1340_1343dup (p.Trp448CysfsTer12) c.1421_1424dup (p.Trp475CysfsTer12) c.1403_1406dup (p.Trp469CysfsTer12) c.1301_1304dup (p.Trp435CysfsTer12) n.1332-537_1332-534dup c.1481_1484dup (p.Trp495CysfsTer12) c.1583_1586dup (p.Trp529CysfsTer12) c.1523_1526dup (p.Trp509CysfsTer12) n.3607-537_3607-534dup n.4043-537_4043-534dup c.1406_1409dup (p.Trp470CysfsTer12) c.1424_1427dup (p.Trp476CysfsTer12) c.1181_1184dup (p.Trp395CysfsTer12) c.1214_1217dup (p.Trp406CysfsTer12) c.1232_1235dup (p.Trp412CysfsTer12) | |
2 | g.127428799C>A | CA428872663 | PROC | c.1239C>A (p.Thr413=) c.563C>A c.1341C>A (p.Thr447=) c.1422C>A (p.Thr474=) c.1404C>A (p.Thr468=) c.1302C>A (p.Thr434=) n.1332-535G>T c.1482C>A (p.Thr494=) c.1584C>A (p.Thr528=) c.1524C>A (p.Thr508=) n.3607-535G>T n.4043-535G>T c.1407C>A (p.Thr469=) c.1425C>A (p.Thr475=) c.1182C>A (p.Thr394=) c.1215C>A (p.Thr405=) c.1233C>A (p.Thr411=) | |
2 | g.127428799C>G | CA428872666 | PROC | c.1239C>G (p.Thr413=) c.563C>G c.1341C>G (p.Thr447=) c.1422C>G (p.Thr474=) c.1404C>G (p.Thr468=) c.1302C>G (p.Thr434=) n.1332-535G>C c.1482C>G (p.Thr494=) c.1584C>G (p.Thr528=) c.1524C>G (p.Thr508=) n.3607-535G>C n.4043-535G>C c.1407C>G (p.Thr469=) c.1425C>G (p.Thr475=) c.1182C>G (p.Thr394=) c.1215C>G (p.Thr405=) c.1233C>G (p.Thr411=) | |
2 | g.127428799C>T | CA428872667 | PROC | c.1239C>T (p.Thr413=) c.563C>T c.1341C>T (p.Thr447=) c.1422C>T (p.Thr474=) c.1404C>T (p.Thr468=) c.1302C>T (p.Thr434=) n.1332-535G>A c.1482C>T (p.Thr494=) c.1584C>T (p.Thr528=) c.1524C>T (p.Thr508=) n.3607-535G>A n.4043-535G>A c.1407C>T (p.Thr469=) c.1425C>T (p.Thr475=) c.1182C>T (p.Thr394=) c.1215C>T (p.Thr405=) c.1233C>T (p.Thr411=) | |
2 | g.127428800T>A | CA348406399 | PROC | c.1240T>A (p.Trp414Arg) c.564T>A c.1342T>A (p.Trp448Arg) c.1423T>A (p.Trp475Arg) c.1405T>A (p.Trp469Arg) c.1303T>A (p.Trp435Arg) n.1332-536A>T c.1483T>A (p.Trp495Arg) c.1585T>A (p.Trp529Arg) c.1525T>A (p.Trp509Arg) n.3607-536A>T n.4043-536A>T c.1408T>A (p.Trp470Arg) c.1426T>A (p.Trp476Arg) c.1183T>A (p.Trp395Arg) c.1216T>A (p.Trp406Arg) c.1234T>A (p.Trp412Arg) | |
2 | g.127428800T>C | CA348406401 | PROC | c.1240T>C (p.Trp414Arg) c.564T>C c.1342T>C (p.Trp448Arg) c.1423T>C (p.Trp475Arg) c.1405T>C (p.Trp469Arg) c.1303T>C (p.Trp435Arg) n.1332-536A>G c.1483T>C (p.Trp495Arg) c.1585T>C (p.Trp529Arg) c.1525T>C (p.Trp509Arg) n.3607-536A>G n.4043-536A>G c.1408T>C (p.Trp470Arg) c.1426T>C (p.Trp476Arg) c.1183T>C (p.Trp395Arg) c.1216T>C (p.Trp406Arg) c.1234T>C (p.Trp412Arg) | ClinVar gnomAD v4 |
2 | g.127428800T>G | CA348406402 | PROC | c.1240T>G (p.Trp414Gly) c.564T>G c.1342T>G (p.Trp448Gly) c.1423T>G (p.Trp475Gly) c.1405T>G (p.Trp469Gly) c.1303T>G (p.Trp435Gly) n.1332-536A>C c.1483T>G (p.Trp495Gly) c.1585T>G (p.Trp529Gly) c.1525T>G (p.Trp509Gly) n.3607-536A>C n.4043-536A>C c.1408T>G (p.Trp470Gly) c.1426T>G (p.Trp476Gly) c.1183T>G (p.Trp395Gly) c.1216T>G (p.Trp406Gly) c.1234T>G (p.Trp412Gly) | |
2 | g.127428801G>A | CA348406405 | PROC | c.1241G>A (p.Trp414Ter) c.565G>A c.1343G>A (p.Trp448Ter) c.1424G>A (p.Trp475Ter) c.1406G>A (p.Trp469Ter) c.1304G>A (p.Trp435Ter) n.1332-537C>T c.1484G>A (p.Trp495Ter) c.1586G>A (p.Trp529Ter) c.1526G>A (p.Trp509Ter) n.3607-537C>T n.4043-537C>T c.1409G>A (p.Trp470Ter) c.1427G>A (p.Trp476Ter) c.1184G>A (p.Trp395Ter) c.1217G>A (p.Trp406Ter) c.1235G>A (p.Trp412Ter) | |
2 | g.127428801G>C | CA1859553 | PROC | c.1241G>C (p.Trp414Ser) c.565G>C c.1343G>C (p.Trp448Ser) c.1424G>C (p.Trp475Ser) c.1406G>C (p.Trp469Ser) c.1304G>C (p.Trp435Ser) n.1332-537C>G c.1484G>C (p.Trp495Ser) c.1586G>C (p.Trp529Ser) c.1526G>C (p.Trp509Ser) n.3607-537C>G n.4043-537C>G c.1409G>C (p.Trp470Ser) c.1427G>C (p.Trp476Ser) c.1184G>C (p.Trp395Ser) c.1217G>C (p.Trp406Ser) c.1235G>C (p.Trp412Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428801G= | CA1286884659 | PROC | c.1241G= (p.Trp414=) c.565G= c.1343G= (p.Trp448=) c.1424G= (p.Trp475=) c.1406G= (p.Trp469=) c.1304G= (p.Trp435=) n.1332-537C= c.1484G= (p.Trp495=) c.1586G= (p.Trp529=) c.1526G= (p.Trp509=) n.3607-537C= n.4043-537C= c.1409G= (p.Trp470=) c.1427G= (p.Trp476=) c.1184G= (p.Trp395=) c.1217G= (p.Trp406=) c.1235G= (p.Trp412=) | |
2 | g.127428801G>T | CA348406406 | PROC | c.1241G>T (p.Trp414Leu) c.565G>T c.1343G>T (p.Trp448Leu) c.1424G>T (p.Trp475Leu) c.1406G>T (p.Trp469Leu) c.1304G>T (p.Trp435Leu) n.1332-537C>A c.1484G>T (p.Trp495Leu) c.1586G>T (p.Trp529Leu) c.1526G>T (p.Trp509Leu) n.3607-537C>A n.4043-537C>A c.1409G>T (p.Trp470Leu) c.1427G>T (p.Trp476Leu) c.1184G>T (p.Trp395Leu) c.1217G>T (p.Trp406Leu) c.1235G>T (p.Trp412Leu) | |
2 | g.127428802G>A | CA348406409 | PROC | c.1242G>A (p.Trp414Ter) c.566G>A c.1344G>A (p.Trp448Ter) c.1425G>A (p.Trp475Ter) c.1407G>A (p.Trp469Ter) c.1305G>A (p.Trp435Ter) n.1332-538C>T c.1485G>A (p.Trp495Ter) c.1587G>A (p.Trp529Ter) c.1527G>A (p.Trp509Ter) n.3607-538C>T n.4043-538C>T c.1410G>A (p.Trp470Ter) c.1428G>A (p.Trp476Ter) c.1185G>A (p.Trp395Ter) c.1218G>A (p.Trp406Ter) c.1236G>A (p.Trp412Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.127428802G>C | CA348406413 | PROC | c.1242G>C (p.Trp414Cys) c.566G>C c.1344G>C (p.Trp448Cys) c.1425G>C (p.Trp475Cys) c.1407G>C (p.Trp469Cys) c.1305G>C (p.Trp435Cys) n.1332-538C>G c.1485G>C (p.Trp495Cys) c.1587G>C (p.Trp529Cys) c.1527G>C (p.Trp509Cys) n.3607-538C>G n.4043-538C>G c.1410G>C (p.Trp470Cys) c.1428G>C (p.Trp476Cys) c.1185G>C (p.Trp395Cys) c.1218G>C (p.Trp406Cys) c.1236G>C (p.Trp412Cys) | |
2 | g.127428802G= | CA1286884660 | PROC | c.1242G= (p.Trp414=) c.566G= c.1344G= (p.Trp448=) c.1425G= (p.Trp475=) c.1407G= (p.Trp469=) c.1305G= (p.Trp435=) n.1332-538C= c.1485G= (p.Trp495=) c.1587G= (p.Trp529=) c.1527G= (p.Trp509=) n.3607-538C= n.4043-538C= c.1410G= (p.Trp470=) c.1428G= (p.Trp476=) c.1185G= (p.Trp395=) c.1218G= (p.Trp406=) c.1236G= (p.Trp412=) | |
2 | g.127428802G>T | CA348406411 | PROC | c.1242G>T (p.Trp414Cys) c.566G>T c.1344G>T (p.Trp448Cys) c.1425G>T (p.Trp475Cys) c.1407G>T (p.Trp469Cys) c.1305G>T (p.Trp435Cys) n.1332-538C>A c.1485G>T (p.Trp495Cys) c.1587G>T (p.Trp529Cys) c.1527G>T (p.Trp509Cys) n.3607-538C>A n.4043-538C>A c.1410G>T (p.Trp470Cys) c.1428G>T (p.Trp476Cys) c.1185G>T (p.Trp395Cys) c.1218G>T (p.Trp406Cys) c.1236G>T (p.Trp412Cys) | |
2 | g.127428803T>A | CA348406415 | PROC | c.1243T>A (p.Phe415Ile) c.567T>A c.1345T>A (p.Phe449Ile) c.1426T>A (p.Phe476Ile) c.1408T>A (p.Phe470Ile) c.1306T>A (p.Phe436Ile) n.1332-539A>T c.1486T>A (p.Phe496Ile) c.1588T>A (p.Phe530Ile) c.1528T>A (p.Phe510Ile) n.3607-539A>T n.4043-539A>T c.1411T>A (p.Phe471Ile) c.1429T>A (p.Phe477Ile) c.1186T>A (p.Phe396Ile) c.1219T>A (p.Phe407Ile) c.1237T>A (p.Phe413Ile) | |
2 | g.127428803T>C | CA1859554 | PROC | c.1243T>C (p.Phe415Leu) c.567T>C c.1345T>C (p.Phe449Leu) c.1426T>C (p.Phe476Leu) c.1408T>C (p.Phe470Leu) c.1306T>C (p.Phe436Leu) n.1332-539A>G c.1486T>C (p.Phe496Leu) c.1588T>C (p.Phe530Leu) c.1528T>C (p.Phe510Leu) n.3607-539A>G n.4043-539A>G c.1411T>C (p.Phe471Leu) c.1429T>C (p.Phe477Leu) c.1186T>C (p.Phe396Leu) c.1219T>C (p.Phe407Leu) c.1237T>C (p.Phe413Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428803T>G | CA348406418 | PROC | c.1243T>G (p.Phe415Val) c.567T>G c.1345T>G (p.Phe449Val) c.1426T>G (p.Phe476Val) c.1408T>G (p.Phe470Val) c.1306T>G (p.Phe436Val) n.1332-539A>C c.1486T>G (p.Phe496Val) c.1588T>G (p.Phe530Val) c.1528T>G (p.Phe510Val) n.3607-539A>C n.4043-539A>C c.1411T>G (p.Phe471Val) c.1429T>G (p.Phe477Val) c.1186T>G (p.Phe396Val) c.1219T>G (p.Phe407Val) c.1237T>G (p.Phe413Val) | gnomAD v4 |
2 | g.127428803T= | CA1286884661 | PROC | c.1243T= (p.Phe415=) c.567T= c.1345T= (p.Phe449=) c.1426T= (p.Phe476=) c.1408T= (p.Phe470=) c.1306T= (p.Phe436=) n.1332-539A= c.1486T= (p.Phe496=) c.1588T= (p.Phe530=) c.1528T= (p.Phe510=) n.3607-539A= n.4043-539A= c.1411T= (p.Phe471=) c.1429T= (p.Phe477=) c.1186T= (p.Phe396=) c.1219T= (p.Phe407=) c.1237T= (p.Phe413=) |