| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |