Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428854T>ACA348406601PROCc.1294T>A (p.Tyr432Asn)
c.618T>A
c.1396T>A (p.Tyr466Asn)
c.1477T>A (p.Tyr493Asn)
c.1459T>A (p.Tyr487Asn)
c.1357T>A (p.Tyr453Asn)
n.1332-590A>T
c.1537T>A (p.Tyr513Asn)
c.1639T>A (p.Tyr547Asn)
c.1579T>A (p.Tyr527Asn)
n.3607-590A>T
n.4043-590A>T
c.1462T>A (p.Tyr488Asn)
c.1480T>A (p.Tyr494Asn)
c.1237T>A (p.Tyr413Asn)
c.1270T>A (p.Tyr424Asn)
c.1288T>A (p.Tyr430Asn)
2g.127428854T>CCA348406602PROCc.1294T>C (p.Tyr432His)
c.618T>C
c.1396T>C (p.Tyr466His)
c.1477T>C (p.Tyr493His)
c.1459T>C (p.Tyr487His)
c.1357T>C (p.Tyr453His)
n.1332-590A>G
c.1537T>C (p.Tyr513His)
c.1639T>C (p.Tyr547His)
c.1579T>C (p.Tyr527His)
n.3607-590A>G
n.4043-590A>G
c.1462T>C (p.Tyr488His)
c.1480T>C (p.Tyr494His)
c.1237T>C (p.Tyr413His)
c.1270T>C (p.Tyr424His)
c.1288T>C (p.Tyr430His)
2g.127428854T>GCA348406603PROCc.1294T>G (p.Tyr432Asp)
c.618T>G
c.1396T>G (p.Tyr466Asp)
c.1477T>G (p.Tyr493Asp)
c.1459T>G (p.Tyr487Asp)
c.1357T>G (p.Tyr453Asp)
n.1332-590A>C
c.1537T>G (p.Tyr513Asp)
c.1639T>G (p.Tyr547Asp)
c.1579T>G (p.Tyr527Asp)
n.3607-590A>C
n.4043-590A>C
c.1462T>G (p.Tyr488Asp)
c.1480T>G (p.Tyr494Asp)
c.1237T>G (p.Tyr413Asp)
c.1270T>G (p.Tyr424Asp)
c.1288T>G (p.Tyr430Asp)
2g.127428855A>CCA348406604PROCc.1295A>C (p.Tyr432Ser)
c.619A>C
c.1397A>C (p.Tyr466Ser)
c.1478A>C (p.Tyr493Ser)
c.1460A>C (p.Tyr487Ser)
c.1358A>C (p.Tyr453Ser)
n.1332-591T>G
c.1538A>C (p.Tyr513Ser)
c.1640A>C (p.Tyr547Ser)
c.1580A>C (p.Tyr527Ser)
n.3607-591T>G
n.4043-591T>G
c.1463A>C (p.Tyr488Ser)
c.1481A>C (p.Tyr494Ser)
c.1238A>C (p.Tyr413Ser)
c.1271A>C (p.Tyr424Ser)
c.1289A>C (p.Tyr430Ser)
2g.127428855A>GCA348406606PROCc.1295A>G (p.Tyr432Cys)
c.619A>G
c.1397A>G (p.Tyr466Cys)
c.1478A>G (p.Tyr493Cys)
c.1460A>G (p.Tyr487Cys)
c.1358A>G (p.Tyr453Cys)
n.1332-591T>C
c.1538A>G (p.Tyr513Cys)
c.1640A>G (p.Tyr547Cys)
c.1580A>G (p.Tyr527Cys)
n.3607-591T>C
n.4043-591T>C
c.1463A>G (p.Tyr488Cys)
c.1481A>G (p.Tyr494Cys)
c.1238A>G (p.Tyr413Cys)
c.1271A>G (p.Tyr424Cys)
c.1289A>G (p.Tyr430Cys)
2g.127428855A>TCA348406605PROCc.1295A>T (p.Tyr432Phe)
c.619A>T
c.1397A>T (p.Tyr466Phe)
c.1478A>T (p.Tyr493Phe)
c.1460A>T (p.Tyr487Phe)
c.1358A>T (p.Tyr453Phe)
n.1332-591T>A
c.1538A>T (p.Tyr513Phe)
c.1640A>T (p.Tyr547Phe)
c.1580A>T (p.Tyr527Phe)
n.3607-591T>A
n.4043-591T>A
c.1463A>T (p.Tyr488Phe)
c.1481A>T (p.Tyr494Phe)
c.1238A>T (p.Tyr413Phe)
c.1271A>T (p.Tyr424Phe)
c.1289A>T (p.Tyr430Phe)
2g.127428856C>ACA348406607PROCc.1296C>A (p.Tyr432Ter)
c.620C>A
c.1398C>A (p.Tyr466Ter)
c.1479C>A (p.Tyr493Ter)
c.1461C>A (p.Tyr487Ter)
c.1359C>A (p.Tyr453Ter)
n.1332-592G>T
c.1539C>A (p.Tyr513Ter)
c.1641C>A (p.Tyr547Ter)
c.1581C>A (p.Tyr527Ter)
n.3607-592G>T
n.4043-592G>T
c.1464C>A (p.Tyr488Ter)
c.1482C>A (p.Tyr494Ter)
c.1239C>A (p.Tyr413Ter)
c.1272C>A (p.Tyr424Ter)
c.1290C>A (p.Tyr430Ter)
2g.127428856C=CA1286884683PROCc.1296C= (p.Tyr432=)
c.620C=
c.1398C= (p.Tyr466=)
c.1479C= (p.Tyr493=)
c.1461C= (p.Tyr487=)
c.1359C= (p.Tyr453=)
n.1332-592G=
c.1539C= (p.Tyr513=)
c.1641C= (p.Tyr547=)
c.1581C= (p.Tyr527=)
n.3607-592G=
n.4043-592G=
c.1464C= (p.Tyr488=)
c.1482C= (p.Tyr494=)
c.1239C= (p.Tyr413=)
c.1272C= (p.Tyr424=)
c.1290C= (p.Tyr430=)
2g.127428856C>GCA348406608PROCc.1296C>G (p.Tyr432Ter)
c.620C>G
c.1398C>G (p.Tyr466Ter)
c.1479C>G (p.Tyr493Ter)
c.1461C>G (p.Tyr487Ter)
c.1359C>G (p.Tyr453Ter)
n.1332-592G>C
c.1539C>G (p.Tyr513Ter)
c.1641C>G (p.Tyr547Ter)
c.1581C>G (p.Tyr527Ter)
n.3607-592G>C
n.4043-592G>C
c.1464C>G (p.Tyr488Ter)
c.1482C>G (p.Tyr494Ter)
c.1239C>G (p.Tyr413Ter)
c.1272C>G (p.Tyr424Ter)
c.1290C>G (p.Tyr430Ter)
2g.127428856C>TCA1859561PROCc.1296C>T (p.Tyr432=)
c.620C>T
c.1398C>T (p.Tyr466=)
c.1479C>T (p.Tyr493=)
c.1461C>T (p.Tyr487=)
c.1359C>T (p.Tyr453=)
n.1332-592G>A
c.1539C>T (p.Tyr513=)
c.1641C>T (p.Tyr547=)
c.1581C>T (p.Tyr527=)
n.3607-592G>A
n.4043-592G>A
c.1464C>T (p.Tyr488=)
c.1482C>T (p.Tyr494=)
c.1239C>T (p.Tyr413=)
c.1272C>T (p.Tyr424=)
c.1290C>T (p.Tyr430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428857G>ACA348406609PROCc.1297G>A (p.Gly433Ser)
c.621G>A
c.1399G>A (p.Gly467Ser)
c.1480G>A (p.Gly494Ser)
c.1462G>A (p.Gly488Ser)
c.1360G>A (p.Gly454Ser)
n.1332-593C>T
c.1540G>A (p.Gly514Ser)
c.1642G>A (p.Gly548Ser)
c.1582G>A (p.Gly528Ser)
n.3607-593C>T
n.4043-593C>T
c.1465G>A (p.Gly489Ser)
c.1483G>A (p.Gly495Ser)
c.1240G>A (p.Gly414Ser)
c.1273G>A (p.Gly425Ser)
c.1291G>A (p.Gly431Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428857G>CCA348406610PROCc.1297G>C (p.Gly433Arg)
c.621G>C
c.1399G>C (p.Gly467Arg)
c.1480G>C (p.Gly494Arg)
c.1462G>C (p.Gly488Arg)
c.1360G>C (p.Gly454Arg)
n.1332-593C>G
c.1540G>C (p.Gly514Arg)
c.1642G>C (p.Gly548Arg)
c.1582G>C (p.Gly528Arg)
n.3607-593C>G
n.4043-593C>G
c.1465G>C (p.Gly489Arg)
c.1483G>C (p.Gly495Arg)
c.1240G>C (p.Gly414Arg)
c.1273G>C (p.Gly425Arg)
c.1291G>C (p.Gly431Arg)
2g.127428857G=CA1286884684PROCc.1297G= (p.Gly433=)
c.621G=
c.1399G= (p.Gly467=)
c.1480G= (p.Gly494=)
c.1462G= (p.Gly488=)
c.1360G= (p.Gly454=)
n.1332-593C=
c.1540G= (p.Gly514=)
c.1642G= (p.Gly548=)
c.1582G= (p.Gly528=)
n.3607-593C=
n.4043-593C=
c.1465G= (p.Gly489=)
c.1483G= (p.Gly495=)
c.1240G= (p.Gly414=)
c.1273G= (p.Gly425=)
c.1291G= (p.Gly431=)
2g.127428857G>TCA348406611PROCc.1297G>T (p.Gly433Cys)
c.621G>T
c.1399G>T (p.Gly467Cys)
c.1480G>T (p.Gly494Cys)
c.1462G>T (p.Gly488Cys)
c.1360G>T (p.Gly454Cys)
n.1332-593C>A
c.1540G>T (p.Gly514Cys)
c.1642G>T (p.Gly548Cys)
c.1582G>T (p.Gly528Cys)
n.3607-593C>A
n.4043-593C>A
c.1465G>T (p.Gly489Cys)
c.1483G>T (p.Gly495Cys)
c.1240G>T (p.Gly414Cys)
c.1273G>T (p.Gly425Cys)
c.1291G>T (p.Gly431Cys)
2g.127428858G>ACA1859562PROCc.1298G>A (p.Gly433Asp)
c.622G>A
c.1400G>A (p.Gly467Asp)
c.1481G>A (p.Gly494Asp)
c.1463G>A (p.Gly488Asp)
c.1361G>A (p.Gly454Asp)
n.1332-594C>T
c.1541G>A (p.Gly514Asp)
c.1643G>A (p.Gly548Asp)
c.1583G>A (p.Gly528Asp)
n.3607-594C>T
n.4043-594C>T
c.1466G>A (p.Gly489Asp)
c.1484G>A (p.Gly495Asp)
c.1241G>A (p.Gly414Asp)
c.1274G>A (p.Gly425Asp)
c.1292G>A (p.Gly431Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428858G>CCA348406612PROCc.1298G>C (p.Gly433Ala)
c.622G>C
c.1400G>C (p.Gly467Ala)
c.1481G>C (p.Gly494Ala)
c.1463G>C (p.Gly488Ala)
c.1361G>C (p.Gly454Ala)
n.1332-594C>G
c.1541G>C (p.Gly514Ala)
c.1643G>C (p.Gly548Ala)
c.1583G>C (p.Gly528Ala)
n.3607-594C>G
n.4043-594C>G
c.1466G>C (p.Gly489Ala)
c.1484G>C (p.Gly495Ala)
c.1241G>C (p.Gly414Ala)
c.1274G>C (p.Gly425Ala)
c.1292G>C (p.Gly431Ala)
2g.127428858G=CA1286884685PROCc.1298G= (p.Gly433=)
c.622G=
c.1400G= (p.Gly467=)
c.1481G= (p.Gly494=)
c.1463G= (p.Gly488=)
c.1361G= (p.Gly454=)
n.1332-594C=
c.1541G= (p.Gly514=)
c.1643G= (p.Gly548=)
c.1583G= (p.Gly528=)
n.3607-594C=
n.4043-594C=
c.1466G= (p.Gly489=)
c.1484G= (p.Gly495=)
c.1241G= (p.Gly414=)
c.1274G= (p.Gly425=)
c.1292G= (p.Gly431=)
2g.127428858G>TCA348406613PROCc.1298G>T (p.Gly433Val)
c.622G>T
c.1400G>T (p.Gly467Val)
c.1481G>T (p.Gly494Val)
c.1463G>T (p.Gly488Val)
c.1361G>T (p.Gly454Val)
n.1332-594C>A
c.1541G>T (p.Gly514Val)
c.1643G>T (p.Gly548Val)
c.1583G>T (p.Gly528Val)
n.3607-594C>A
n.4043-594C>A
c.1466G>T (p.Gly489Val)
c.1484G>T (p.Gly495Val)
c.1241G>T (p.Gly414Val)
c.1274G>T (p.Gly425Val)
c.1292G>T (p.Gly431Val)
2g.127428859C>ACA428873027PROCc.1299C>A (p.Gly433=)
c.623C>A
c.1401C>A (p.Gly467=)
c.1482C>A (p.Gly494=)
c.1464C>A (p.Gly488=)
c.1362C>A (p.Gly454=)
n.1332-595G>T
c.1542C>A (p.Gly514=)
c.1644C>A (p.Gly548=)
c.1584C>A (p.Gly528=)
n.3607-595G>T
n.4043-595G>T
c.1467C>A (p.Gly489=)
c.1485C>A (p.Gly495=)
c.1242C>A (p.Gly414=)
c.1275C>A (p.Gly425=)
c.1293C>A (p.Gly431=)
2g.127428859C=CA1286884686PROCc.1299C= (p.Gly433=)
c.623C=
c.1401C= (p.Gly467=)
c.1482C= (p.Gly494=)
c.1464C= (p.Gly488=)
c.1362C= (p.Gly454=)
n.1332-595G=
c.1542C= (p.Gly514=)
c.1644C= (p.Gly548=)
c.1584C= (p.Gly528=)
n.3607-595G=
n.4043-595G=
c.1467C= (p.Gly489=)
c.1485C= (p.Gly495=)
c.1242C= (p.Gly414=)
c.1275C= (p.Gly425=)
c.1293C= (p.Gly431=)
2g.127428859C>GCA428873028PROCc.1299C>G (p.Gly433=)
c.623C>G
c.1401C>G (p.Gly467=)
c.1482C>G (p.Gly494=)
c.1464C>G (p.Gly488=)
c.1362C>G (p.Gly454=)
n.1332-595G>C
c.1542C>G (p.Gly514=)
c.1644C>G (p.Gly548=)
c.1584C>G (p.Gly528=)
n.3607-595G>C
n.4043-595G>C
c.1467C>G (p.Gly489=)
c.1485C>G (p.Gly495=)
c.1242C>G (p.Gly414=)
c.1275C>G (p.Gly425=)
c.1293C>G (p.Gly431=)
2g.127428859C>TCA349279PROCc.1299C>T (p.Gly433=)
c.623C>T
c.1401C>T (p.Gly467=)
c.1482C>T (p.Gly494=)
c.1464C>T (p.Gly488=)
c.1362C>T (p.Gly454=)
n.1332-595G>A
c.1542C>T (p.Gly514=)
c.1644C>T (p.Gly548=)
c.1584C>T (p.Gly528=)
n.3607-595G>A
n.4043-595G>A
c.1467C>T (p.Gly489=)
c.1485C>T (p.Gly495=)
c.1242C>T (p.Gly414=)
c.1275C>T (p.Gly425=)
c.1293C>T (p.Gly431=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428860G>ACA1859563PROCc.1300G>A (p.Val434Ile)
c.624G>A
c.1402G>A (p.Val468Ile)
c.1483G>A (p.Val495Ile)
c.1465G>A (p.Val489Ile)
c.1363G>A (p.Val455Ile)
n.1332-596C>T
c.1543G>A (p.Val515Ile)
c.1645G>A (p.Val549Ile)
c.1585G>A (p.Val529Ile)
n.3607-596C>T
n.4043-596C>T
c.1468G>A (p.Val490Ile)
c.1486G>A (p.Val496Ile)
c.1243G>A (p.Val415Ile)
c.1276G>A (p.Val426Ile)
c.1294G>A (p.Val432Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428860G>CCA348406615PROCc.1300G>C (p.Val434Leu)
c.624G>C
c.1402G>C (p.Val468Leu)
c.1483G>C (p.Val495Leu)
c.1465G>C (p.Val489Leu)
c.1363G>C (p.Val455Leu)
n.1332-596C>G
c.1543G>C (p.Val515Leu)
c.1645G>C (p.Val549Leu)
c.1585G>C (p.Val529Leu)
n.3607-596C>G
n.4043-596C>G
c.1468G>C (p.Val490Leu)
c.1486G>C (p.Val496Leu)
c.1243G>C (p.Val415Leu)
c.1276G>C (p.Val426Leu)
c.1294G>C (p.Val432Leu)
2g.127428860G=CA1286884687PROCc.1300G= (p.Val434=)
c.624G=
c.1402G= (p.Val468=)
c.1483G= (p.Val495=)
c.1465G= (p.Val489=)
c.1363G= (p.Val455=)
n.1332-596C=
c.1543G= (p.Val515=)
c.1645G= (p.Val549=)
c.1585G= (p.Val529=)
n.3607-596C=
n.4043-596C=
c.1468G= (p.Val490=)
c.1486G= (p.Val496=)
c.1243G= (p.Val415=)
c.1276G= (p.Val426=)
c.1294G= (p.Val432=)
2g.127428860G>TCA348406614PROCc.1300G>T (p.Val434Phe)
c.624G>T
c.1402G>T (p.Val468Phe)
c.1483G>T (p.Val495Phe)
c.1465G>T (p.Val489Phe)
c.1363G>T (p.Val455Phe)
n.1332-596C>A
c.1543G>T (p.Val515Phe)
c.1645G>T (p.Val549Phe)
c.1585G>T (p.Val529Phe)
n.3607-596C>A
n.4043-596C>A
c.1468G>T (p.Val490Phe)
c.1486G>T (p.Val496Phe)
c.1243G>T (p.Val415Phe)
c.1276G>T (p.Val426Phe)
c.1294G>T (p.Val432Phe)
2g.127428861T>ACA348406616PROCc.1301T>A (p.Val434Asp)
c.625T>A
c.1403T>A (p.Val468Asp)
c.1484T>A (p.Val495Asp)
c.1466T>A (p.Val489Asp)
c.1364T>A (p.Val455Asp)
n.1332-597A>T
c.1544T>A (p.Val515Asp)
c.1646T>A (p.Val549Asp)
c.1586T>A (p.Val529Asp)
n.3607-597A>T
n.4043-597A>T
c.1469T>A (p.Val490Asp)
c.1487T>A (p.Val496Asp)
c.1244T>A (p.Val415Asp)
c.1277T>A (p.Val426Asp)
c.1295T>A (p.Val432Asp)
2g.127428861T>CCA348406617PROCc.1301T>C (p.Val434Ala)
c.625T>C
c.1403T>C (p.Val468Ala)
c.1484T>C (p.Val495Ala)
c.1466T>C (p.Val489Ala)
c.1364T>C (p.Val455Ala)
n.1332-597A>G
c.1544T>C (p.Val515Ala)
c.1646T>C (p.Val549Ala)
c.1586T>C (p.Val529Ala)
n.3607-597A>G
n.4043-597A>G
c.1469T>C (p.Val490Ala)
c.1487T>C (p.Val496Ala)
c.1244T>C (p.Val415Ala)
c.1277T>C (p.Val426Ala)
c.1295T>C (p.Val432Ala)
2g.127428861T>GCA348406618PROCc.1301T>G (p.Val434Gly)
c.625T>G
c.1403T>G (p.Val468Gly)
c.1484T>G (p.Val495Gly)
c.1466T>G (p.Val489Gly)
c.1364T>G (p.Val455Gly)
n.1332-597A>C
c.1544T>G (p.Val515Gly)
c.1646T>G (p.Val549Gly)
c.1586T>G (p.Val529Gly)
n.3607-597A>C
n.4043-597A>C
c.1469T>G (p.Val490Gly)
c.1487T>G (p.Val496Gly)
c.1244T>G (p.Val415Gly)
c.1277T>G (p.Val426Gly)
c.1295T>G (p.Val432Gly)
2g.127428862T>ACA428873034PROCc.1302T>A (p.Val434=)
c.626T>A
c.1404T>A (p.Val468=)
c.1485T>A (p.Val495=)
c.1467T>A (p.Val489=)
c.1365T>A (p.Val455=)
n.1332-598A>T
c.1545T>A (p.Val515=)
c.1647T>A (p.Val549=)
c.1587T>A (p.Val529=)
n.3607-598A>T
n.4043-598A>T
c.1470T>A (p.Val490=)
c.1488T>A (p.Val496=)
c.1245T>A (p.Val415=)
c.1278T>A (p.Val426=)
c.1296T>A (p.Val432=)
2g.127428862T>CCA1859564PROCc.1302T>C (p.Val434=)
c.626T>C
c.1404T>C (p.Val468=)
c.1485T>C (p.Val495=)
c.1467T>C (p.Val489=)
c.1365T>C (p.Val455=)
n.1332-598A>G
c.1545T>C (p.Val515=)
c.1647T>C (p.Val549=)
c.1587T>C (p.Val529=)
n.3607-598A>G
n.4043-598A>G
c.1470T>C (p.Val490=)
c.1488T>C (p.Val496=)
c.1245T>C (p.Val415=)
c.1278T>C (p.Val426=)
c.1296T>C (p.Val432=)
 dbSNP ExAC
2g.127428862T>GCA428873033PROCc.1302T>G (p.Val434=)
c.626T>G
c.1404T>G (p.Val468=)
c.1485T>G (p.Val495=)
c.1467T>G (p.Val489=)
c.1365T>G (p.Val455=)
n.1332-598A>C
c.1545T>G (p.Val515=)
c.1647T>G (p.Val549=)
c.1587T>G (p.Val529=)
n.3607-598A>C
n.4043-598A>C
c.1470T>G (p.Val490=)
c.1488T>G (p.Val496=)
c.1245T>G (p.Val415=)
c.1278T>G (p.Val426=)
c.1296T>G (p.Val432=)
2g.127428862T=CA1286884688PROCc.1302T= (p.Val434=)
c.626T=
c.1404T= (p.Val468=)
c.1485T= (p.Val495=)
c.1467T= (p.Val489=)
c.1365T= (p.Val455=)
n.1332-598A=
c.1545T= (p.Val515=)
c.1647T= (p.Val549=)
c.1587T= (p.Val529=)
n.3607-598A=
n.4043-598A=
c.1470T= (p.Val490=)
c.1488T= (p.Val496=)
c.1245T= (p.Val415=)
c.1278T= (p.Val426=)
c.1296T= (p.Val432=)
2g.127428863T>ACA348406621PROCc.1303T>A (p.Tyr435Asn)
c.627T>A
c.1405T>A (p.Tyr469Asn)
c.1486T>A (p.Tyr496Asn)
c.1468T>A (p.Tyr490Asn)
c.1366T>A (p.Tyr456Asn)
n.1332-599A>T
c.1546T>A (p.Tyr516Asn)
c.1648T>A (p.Tyr550Asn)
c.1588T>A (p.Tyr530Asn)
n.3607-599A>T
n.4043-599A>T
c.1471T>A (p.Tyr491Asn)
c.1489T>A (p.Tyr497Asn)
c.1246T>A (p.Tyr416Asn)
c.1279T>A (p.Tyr427Asn)
c.1297T>A (p.Tyr433Asn)
2g.127428863T>CCA348406619PROCc.1303T>C (p.Tyr435His)
c.627T>C
c.1405T>C (p.Tyr469His)
c.1486T>C (p.Tyr496His)
c.1468T>C (p.Tyr490His)
c.1366T>C (p.Tyr456His)
n.1332-599A>G
c.1546T>C (p.Tyr516His)
c.1648T>C (p.Tyr550His)
c.1588T>C (p.Tyr530His)
n.3607-599A>G
n.4043-599A>G
c.1471T>C (p.Tyr491His)
c.1489T>C (p.Tyr497His)
c.1246T>C (p.Tyr416His)
c.1279T>C (p.Tyr427His)
c.1297T>C (p.Tyr433His)
 dbSNP gnomAD v2 gnomAD v4
2g.127428863T>GCA348406620PROCc.1303T>G (p.Tyr435Asp)
c.627T>G
c.1405T>G (p.Tyr469Asp)
c.1486T>G (p.Tyr496Asp)
c.1468T>G (p.Tyr490Asp)
c.1366T>G (p.Tyr456Asp)
n.1332-599A>C
c.1546T>G (p.Tyr516Asp)
c.1648T>G (p.Tyr550Asp)
c.1588T>G (p.Tyr530Asp)
n.3607-599A>C
n.4043-599A>C
c.1471T>G (p.Tyr491Asp)
c.1489T>G (p.Tyr497Asp)
c.1246T>G (p.Tyr416Asp)
c.1279T>G (p.Tyr427Asp)
c.1297T>G (p.Tyr433Asp)
2g.127428863T=CA1286884689PROCc.1303T= (p.Tyr435=)
c.627T=
c.1405T= (p.Tyr469=)
c.1486T= (p.Tyr496=)
c.1468T= (p.Tyr490=)
c.1366T= (p.Tyr456=)
n.1332-599A=
c.1546T= (p.Tyr516=)
c.1648T= (p.Tyr550=)
c.1588T= (p.Tyr530=)
n.3607-599A=
n.4043-599A=
c.1471T= (p.Tyr491=)
c.1489T= (p.Tyr497=)
c.1246T= (p.Tyr416=)
c.1279T= (p.Tyr427=)
c.1297T= (p.Tyr433=)
2g.127428864A>CCA348406622PROCc.1304A>C (p.Tyr435Ser)
c.628A>C
c.1406A>C (p.Tyr469Ser)
c.1487A>C (p.Tyr496Ser)
c.1469A>C (p.Tyr490Ser)
c.1367A>C (p.Tyr456Ser)
n.1332-600T>G
c.1547A>C (p.Tyr516Ser)
c.1649A>C (p.Tyr550Ser)
c.1589A>C (p.Tyr530Ser)
n.3607-600T>G
n.4043-600T>G
c.1472A>C (p.Tyr491Ser)
c.1490A>C (p.Tyr497Ser)
c.1247A>C (p.Tyr416Ser)
c.1280A>C (p.Tyr427Ser)
c.1298A>C (p.Tyr433Ser)
2g.127428864A>GCA348406623PROCc.1304A>G (p.Tyr435Cys)
c.628A>G
c.1406A>G (p.Tyr469Cys)
c.1487A>G (p.Tyr496Cys)
c.1469A>G (p.Tyr490Cys)
c.1367A>G (p.Tyr456Cys)
n.1332-600T>C
c.1547A>G (p.Tyr516Cys)
c.1649A>G (p.Tyr550Cys)
c.1589A>G (p.Tyr530Cys)
n.3607-600T>C
n.4043-600T>C
c.1472A>G (p.Tyr491Cys)
c.1490A>G (p.Tyr497Cys)
c.1247A>G (p.Tyr416Cys)
c.1280A>G (p.Tyr427Cys)
c.1298A>G (p.Tyr433Cys)
2g.127428864A>TCA348406624PROCc.1304A>T (p.Tyr435Phe)
c.628A>T
c.1406A>T (p.Tyr469Phe)
c.1487A>T (p.Tyr496Phe)
c.1469A>T (p.Tyr490Phe)
c.1367A>T (p.Tyr456Phe)
n.1332-600T>A
c.1547A>T (p.Tyr516Phe)
c.1649A>T (p.Tyr550Phe)
c.1589A>T (p.Tyr530Phe)
n.3607-600T>A
n.4043-600T>A
c.1472A>T (p.Tyr491Phe)
c.1490A>T (p.Tyr497Phe)
c.1247A>T (p.Tyr416Phe)
c.1280A>T (p.Tyr427Phe)
c.1298A>T (p.Tyr433Phe)
2g.127428865delCA2573133201PROCc.1305del (p.Tyr435Ter)
c.629del
c.1407del (p.Tyr469Ter)
c.1488del (p.Tyr496Ter)
c.1470del (p.Tyr490Ter)
c.1368del (p.Tyr456Ter)
n.1332-601del
c.1548del (p.Tyr516Ter)
c.1650del (p.Tyr550Ter)
c.1590del (p.Tyr530Ter)
n.3607-601del
n.4043-601del
c.1473del (p.Tyr491Ter)
c.1491del (p.Tyr497Ter)
c.1248del (p.Tyr416Ter)
c.1281del (p.Tyr427Ter)
c.1299del (p.Tyr433Ter)
 ClinVar dbSNP
2g.127428865C>ACA348406625PROCc.1305C>A (p.Tyr435Ter)
c.629C>A
c.1407C>A (p.Tyr469Ter)
c.1488C>A (p.Tyr496Ter)
c.1470C>A (p.Tyr490Ter)
c.1368C>A (p.Tyr456Ter)
n.1332-601G>T
c.1548C>A (p.Tyr516Ter)
c.1650C>A (p.Tyr550Ter)
c.1590C>A (p.Tyr530Ter)
n.3607-601G>T
n.4043-601G>T
c.1473C>A (p.Tyr491Ter)
c.1491C>A (p.Tyr497Ter)
c.1248C>A (p.Tyr416Ter)
c.1281C>A (p.Tyr427Ter)
c.1299C>A (p.Tyr433Ter)
2g.127428865C=CA1286884690PROCc.1305C= (p.Tyr435=)
c.629C=
c.1407C= (p.Tyr469=)
c.1488C= (p.Tyr496=)
c.1470C= (p.Tyr490=)
c.1368C= (p.Tyr456=)
n.1332-601G=
c.1548C= (p.Tyr516=)
c.1650C= (p.Tyr550=)
c.1590C= (p.Tyr530=)
n.3607-601G=
n.4043-601G=
c.1473C= (p.Tyr491=)
c.1491C= (p.Tyr497=)
c.1248C= (p.Tyr416=)
c.1281C= (p.Tyr427=)
c.1299C= (p.Tyr433=)
2g.127428865C>GCA348406626PROCc.1305C>G (p.Tyr435Ter)
c.629C>G
c.1407C>G (p.Tyr469Ter)
c.1488C>G (p.Tyr496Ter)
c.1470C>G (p.Tyr490Ter)
c.1368C>G (p.Tyr456Ter)
n.1332-601G>C
c.1548C>G (p.Tyr516Ter)
c.1650C>G (p.Tyr550Ter)
c.1590C>G (p.Tyr530Ter)
n.3607-601G>C
n.4043-601G>C
c.1473C>G (p.Tyr491Ter)
c.1491C>G (p.Tyr497Ter)
c.1248C>G (p.Tyr416Ter)
c.1281C>G (p.Tyr427Ter)
c.1299C>G (p.Tyr433Ter)
2g.127428865C>TCA1859565PROCc.1305C>T (p.Tyr435=)
c.629C>T
c.1407C>T (p.Tyr469=)
c.1488C>T (p.Tyr496=)
c.1470C>T (p.Tyr490=)
c.1368C>T (p.Tyr456=)
n.1332-601G>A
c.1548C>T (p.Tyr516=)
c.1650C>T (p.Tyr550=)
c.1590C>T (p.Tyr530=)
n.3607-601G>A
n.4043-601G>A
c.1473C>T (p.Tyr491=)
c.1491C>T (p.Tyr497=)
c.1248C>T (p.Tyr416=)
c.1281C>T (p.Tyr427=)
c.1299C>T (p.Tyr433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428866A>CCA348406627PROCc.1306A>C (p.Thr436Pro)
c.630A>C
c.1408A>C (p.Thr470Pro)
c.1489A>C (p.Thr497Pro)
c.1471A>C (p.Thr491Pro)
c.1369A>C (p.Thr457Pro)
n.1332-602T>G
c.1549A>C (p.Thr517Pro)
c.1651A>C (p.Thr551Pro)
c.1591A>C (p.Thr531Pro)
n.3607-602T>G
n.4043-602T>G
c.1474A>C (p.Thr492Pro)
c.1492A>C (p.Thr498Pro)
c.1249A>C (p.Thr417Pro)
c.1282A>C (p.Thr428Pro)
c.1300A>C (p.Thr434Pro)
2g.127428866A>GCA348406628PROCc.1306A>G (p.Thr436Ala)
c.630A>G
c.1408A>G (p.Thr470Ala)
c.1489A>G (p.Thr497Ala)
c.1471A>G (p.Thr491Ala)
c.1369A>G (p.Thr457Ala)
n.1332-602T>C
c.1549A>G (p.Thr517Ala)
c.1651A>G (p.Thr551Ala)
c.1591A>G (p.Thr531Ala)
n.3607-602T>C
n.4043-602T>C
c.1474A>G (p.Thr492Ala)
c.1492A>G (p.Thr498Ala)
c.1249A>G (p.Thr417Ala)
c.1282A>G (p.Thr428Ala)
c.1300A>G (p.Thr434Ala)
2g.127428866A>TCA348406629PROCc.1306A>T (p.Thr436Ser)
c.630A>T
c.1408A>T (p.Thr470Ser)
c.1489A>T (p.Thr497Ser)
c.1471A>T (p.Thr491Ser)
c.1369A>T (p.Thr457Ser)
n.1332-602T>A
c.1549A>T (p.Thr517Ser)
c.1651A>T (p.Thr551Ser)
c.1591A>T (p.Thr531Ser)
n.3607-602T>A
n.4043-602T>A
c.1474A>T (p.Thr492Ser)
c.1492A>T (p.Thr498Ser)
c.1249A>T (p.Thr417Ser)
c.1282A>T (p.Thr428Ser)
c.1300A>T (p.Thr434Ser)
2g.127428867C>ACA348406630PROCc.1307C>A (p.Thr436Asn)
c.631C>A
c.1409C>A (p.Thr470Asn)
c.1490C>A (p.Thr497Asn)
c.1472C>A (p.Thr491Asn)
c.1370C>A (p.Thr457Asn)
n.1332-603G>T
c.1550C>A (p.Thr517Asn)
c.1652C>A (p.Thr551Asn)
c.1592C>A (p.Thr531Asn)
n.3607-603G>T
n.4043-603G>T
c.1475C>A (p.Thr492Asn)
c.1493C>A (p.Thr498Asn)
c.1250C>A (p.Thr417Asn)
c.1283C>A (p.Thr428Asn)
c.1301C>A (p.Thr434Asn)
2g.127428867C=CA1286884691PROCc.1307C= (p.Thr436=)
c.631C=
c.1409C= (p.Thr470=)
c.1490C= (p.Thr497=)
c.1472C= (p.Thr491=)
c.1370C= (p.Thr457=)
n.1332-603G=
c.1550C= (p.Thr517=)
c.1652C= (p.Thr551=)
c.1592C= (p.Thr531=)
n.3607-603G=
n.4043-603G=
c.1475C= (p.Thr492=)
c.1493C= (p.Thr498=)
c.1250C= (p.Thr417=)
c.1283C= (p.Thr428=)
c.1301C= (p.Thr434=)
2g.127428867C>GCA348406631PROCc.1307C>G (p.Thr436Ser)
c.631C>G
c.1409C>G (p.Thr470Ser)
c.1490C>G (p.Thr497Ser)
c.1472C>G (p.Thr491Ser)
c.1370C>G (p.Thr457Ser)
n.1332-603G>C
c.1550C>G (p.Thr517Ser)
c.1652C>G (p.Thr551Ser)
c.1592C>G (p.Thr531Ser)
n.3607-603G>C
n.4043-603G>C
c.1475C>G (p.Thr492Ser)
c.1493C>G (p.Thr498Ser)
c.1250C>G (p.Thr417Ser)
c.1283C>G (p.Thr428Ser)
c.1301C>G (p.Thr434Ser)
2g.127428867C>TCA348406632PROCc.1307C>T (p.Thr436Ile)
c.631C>T
c.1409C>T (p.Thr470Ile)
c.1490C>T (p.Thr497Ile)
c.1472C>T (p.Thr491Ile)
c.1370C>T (p.Thr457Ile)
n.1332-603G>A
c.1550C>T (p.Thr517Ile)
c.1652C>T (p.Thr551Ile)
c.1592C>T (p.Thr531Ile)
n.3607-603G>A
n.4043-603G>A
c.1475C>T (p.Thr492Ile)
c.1493C>T (p.Thr498Ile)
c.1250C>T (p.Thr417Ile)
c.1283C>T (p.Thr428Ile)
c.1301C>T (p.Thr434Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428868C>ACA428873066PROCc.1308C>A (p.Thr436=)
c.632C>A
c.1410C>A (p.Thr470=)
c.1491C>A (p.Thr497=)
c.1473C>A (p.Thr491=)
c.1371C>A (p.Thr457=)
n.1332-604G>T
c.1551C>A (p.Thr517=)
c.1653C>A (p.Thr551=)
c.1593C>A (p.Thr531=)
n.3607-604G>T
n.4043-604G>T
c.1476C>A (p.Thr492=)
c.1494C>A (p.Thr498=)
c.1251C>A (p.Thr417=)
c.1284C>A (p.Thr428=)
c.1302C>A (p.Thr434=)
2g.127428868C>GCA428873071PROCc.1308C>G (p.Thr436=)
c.632C>G
c.1410C>G (p.Thr470=)
c.1491C>G (p.Thr497=)
c.1473C>G (p.Thr491=)
c.1371C>G (p.Thr457=)
n.1332-604G>C
c.1551C>G (p.Thr517=)
c.1653C>G (p.Thr551=)
c.1593C>G (p.Thr531=)
n.3607-604G>C
n.4043-604G>C
c.1476C>G (p.Thr492=)
c.1494C>G (p.Thr498=)
c.1251C>G (p.Thr417=)
c.1284C>G (p.Thr428=)
c.1302C>G (p.Thr434=)
 gnomAD v4
2g.127428868C>TCA428873074PROCc.1308C>T (p.Thr436=)
c.632C>T
c.1410C>T (p.Thr470=)
c.1491C>T (p.Thr497=)
c.1473C>T (p.Thr491=)
c.1371C>T (p.Thr457=)
n.1332-604G>A
c.1551C>T (p.Thr517=)
c.1653C>T (p.Thr551=)
c.1593C>T (p.Thr531=)
n.3607-604G>A
n.4043-604G>A
c.1476C>T (p.Thr492=)
c.1494C>T (p.Thr498=)
c.1251C>T (p.Thr417=)
c.1284C>T (p.Thr428=)
c.1302C>T (p.Thr434=)
2g.127428869A>CCA348406635PROCc.1309A>C (p.Lys437Gln)
c.633A>C
c.1411A>C (p.Lys471Gln)
c.1492A>C (p.Lys498Gln)
c.1474A>C (p.Lys492Gln)
c.1372A>C (p.Lys458Gln)
n.1332-605T>G
c.1552A>C (p.Lys518Gln)
c.1654A>C (p.Lys552Gln)
c.1594A>C (p.Lys532Gln)
n.3607-605T>G
n.4043-605T>G
c.1477A>C (p.Lys493Gln)
c.1495A>C (p.Lys499Gln)
c.1252A>C (p.Lys418Gln)
c.1285A>C (p.Lys429Gln)
c.1303A>C (p.Lys435Gln)
2g.127428869A>GCA348406633PROCc.1309A>G (p.Lys437Glu)
c.633A>G
c.1411A>G (p.Lys471Glu)
c.1492A>G (p.Lys498Glu)
c.1474A>G (p.Lys492Glu)
c.1372A>G (p.Lys458Glu)
n.1332-605T>C
c.1552A>G (p.Lys518Glu)
c.1654A>G (p.Lys552Glu)
c.1594A>G (p.Lys532Glu)
n.3607-605T>C
n.4043-605T>C
c.1477A>G (p.Lys493Glu)
c.1495A>G (p.Lys499Glu)
c.1252A>G (p.Lys418Glu)
c.1285A>G (p.Lys429Glu)
c.1303A>G (p.Lys435Glu)
2g.127428869A>TCA348406634PROCc.1309A>T (p.Lys437Ter)
c.633A>T
c.1411A>T (p.Lys471Ter)
c.1492A>T (p.Lys498Ter)
c.1474A>T (p.Lys492Ter)
c.1372A>T (p.Lys458Ter)
n.1332-605T>A
c.1552A>T (p.Lys518Ter)
c.1654A>T (p.Lys552Ter)
c.1594A>T (p.Lys532Ter)
n.3607-605T>A
n.4043-605T>A
c.1477A>T (p.Lys493Ter)
c.1495A>T (p.Lys499Ter)
c.1252A>T (p.Lys418Ter)
c.1285A>T (p.Lys429Ter)
c.1303A>T (p.Lys435Ter)
2g.127428870A=CA1286884692PROCc.1310A= (p.Lys437=)
c.634A=
c.1412A= (p.Lys471=)
c.1493A= (p.Lys498=)
c.1475A= (p.Lys492=)
c.1373A= (p.Lys458=)
n.1332-606T=
c.1553A= (p.Lys518=)
c.1655A= (p.Lys552=)
c.1595A= (p.Lys532=)
n.3607-606T=
n.4043-606T=
c.1478A= (p.Lys493=)
c.1496A= (p.Lys499=)
c.1253A= (p.Lys418=)
c.1286A= (p.Lys429=)
c.1304A= (p.Lys435=)
2g.127428870A>CCA348406636PROCc.1310A>C (p.Lys437Thr)
c.634A>C
c.1412A>C (p.Lys471Thr)
c.1493A>C (p.Lys498Thr)
c.1475A>C (p.Lys492Thr)
c.1373A>C (p.Lys458Thr)
n.1332-606T>G
c.1553A>C (p.Lys518Thr)
c.1655A>C (p.Lys552Thr)
c.1595A>C (p.Lys532Thr)
n.3607-606T>G
n.4043-606T>G
c.1478A>C (p.Lys493Thr)
c.1496A>C (p.Lys499Thr)
c.1253A>C (p.Lys418Thr)
c.1286A>C (p.Lys429Thr)
c.1304A>C (p.Lys435Thr)
2g.127428870A>GCA348406637PROCc.1310A>G (p.Lys437Arg)
c.634A>G
c.1412A>G (p.Lys471Arg)
c.1493A>G (p.Lys498Arg)
c.1475A>G (p.Lys492Arg)
c.1373A>G (p.Lys458Arg)
n.1332-606T>C
c.1553A>G (p.Lys518Arg)
c.1655A>G (p.Lys552Arg)
c.1595A>G (p.Lys532Arg)
n.3607-606T>C
n.4043-606T>C
c.1478A>G (p.Lys493Arg)
c.1496A>G (p.Lys499Arg)
c.1253A>G (p.Lys418Arg)
c.1286A>G (p.Lys429Arg)
c.1304A>G (p.Lys435Arg)
 dbSNP gnomAD v2
2g.127428870A>TCA348406638PROCc.1310A>T (p.Lys437Ile)
c.634A>T
c.1412A>T (p.Lys471Ile)
c.1493A>T (p.Lys498Ile)
c.1475A>T (p.Lys492Ile)
c.1373A>T (p.Lys458Ile)
n.1332-606T>A
c.1553A>T (p.Lys518Ile)
c.1655A>T (p.Lys552Ile)
c.1595A>T (p.Lys532Ile)
n.3607-606T>A
n.4043-606T>A
c.1478A>T (p.Lys493Ile)
c.1496A>T (p.Lys499Ile)
c.1253A>T (p.Lys418Ile)
c.1286A>T (p.Lys429Ile)
c.1304A>T (p.Lys435Ile)
2g.127428871A>CCA348406639PROCc.1311A>C (p.Lys437Asn)
c.635A>C
c.1413A>C (p.Lys471Asn)
c.1494A>C (p.Lys498Asn)
c.1476A>C (p.Lys492Asn)
c.1374A>C (p.Lys458Asn)
n.1332-607T>G
c.1554A>C (p.Lys518Asn)
c.1656A>C (p.Lys552Asn)
c.1596A>C (p.Lys532Asn)
n.3607-607T>G
n.4043-607T>G
c.1479A>C (p.Lys493Asn)
c.1497A>C (p.Lys499Asn)
c.1254A>C (p.Lys418Asn)
c.1287A>C (p.Lys429Asn)
c.1305A>C (p.Lys435Asn)
2g.127428871A>GCA428873091PROCc.1311A>G (p.Lys437=)
c.635A>G
c.1413A>G (p.Lys471=)
c.1494A>G (p.Lys498=)
c.1476A>G (p.Lys492=)
c.1374A>G (p.Lys458=)
n.1332-607T>C
c.1554A>G (p.Lys518=)
c.1656A>G (p.Lys552=)
c.1596A>G (p.Lys532=)
n.3607-607T>C
n.4043-607T>C
c.1479A>G (p.Lys493=)
c.1497A>G (p.Lys499=)
c.1254A>G (p.Lys418=)
c.1287A>G (p.Lys429=)
c.1305A>G (p.Lys435=)
2g.127428871A>TCA348406640PROCc.1311A>T (p.Lys437Asn)
c.635A>T
c.1413A>T (p.Lys471Asn)
c.1494A>T (p.Lys498Asn)
c.1476A>T (p.Lys492Asn)
c.1374A>T (p.Lys458Asn)
n.1332-607T>A
c.1554A>T (p.Lys518Asn)
c.1656A>T (p.Lys552Asn)
c.1596A>T (p.Lys532Asn)
n.3607-607T>A
n.4043-607T>A
c.1479A>T (p.Lys493Asn)
c.1497A>T (p.Lys499Asn)
c.1254A>T (p.Lys418Asn)
c.1287A>T (p.Lys429Asn)
c.1305A>T (p.Lys435Asn)
2g.127428872G>ACA348406643PROCc.1312G>A (p.Val438Ile)
c.636G>A
c.1414G>A (p.Val472Ile)
c.1495G>A (p.Val499Ile)
c.1477G>A (p.Val493Ile)
c.1375G>A (p.Val459Ile)
n.1332-608C>T
c.1555G>A (p.Val519Ile)
c.1657G>A (p.Val553Ile)
c.1597G>A (p.Val533Ile)
n.3607-608C>T
n.4043-608C>T
c.1480G>A (p.Val494Ile)
c.1498G>A (p.Val500Ile)
c.1255G>A (p.Val419Ile)
c.1288G>A (p.Val430Ile)
c.1306G>A (p.Val436Ile)
 COSMIC
2g.127428872G>CCA348406642PROCc.1312G>C (p.Val438Leu)
c.636G>C
c.1414G>C (p.Val472Leu)
c.1495G>C (p.Val499Leu)
c.1477G>C (p.Val493Leu)
c.1375G>C (p.Val459Leu)
n.1332-608C>G
c.1555G>C (p.Val519Leu)
c.1657G>C (p.Val553Leu)
c.1597G>C (p.Val533Leu)
n.3607-608C>G
n.4043-608C>G
c.1480G>C (p.Val494Leu)
c.1498G>C (p.Val500Leu)
c.1255G>C (p.Val419Leu)
c.1288G>C (p.Val430Leu)
c.1306G>C (p.Val436Leu)
2g.127428872G>TCA348406641PROCc.1312G>T (p.Val438Phe)
c.636G>T
c.1414G>T (p.Val472Phe)
c.1495G>T (p.Val499Phe)
c.1477G>T (p.Val493Phe)
c.1375G>T (p.Val459Phe)
n.1332-608C>A
c.1555G>T (p.Val519Phe)
c.1657G>T (p.Val553Phe)
c.1597G>T (p.Val533Phe)
n.3607-608C>A
n.4043-608C>A
c.1480G>T (p.Val494Phe)
c.1498G>T (p.Val500Phe)
c.1255G>T (p.Val419Phe)
c.1288G>T (p.Val430Phe)
c.1306G>T (p.Val436Phe)
2g.127428873T>ACA348406644PROCc.1313T>A (p.Val438Asp)
c.637T>A
c.1415T>A (p.Val472Asp)
c.1496T>A (p.Val499Asp)
c.1478T>A (p.Val493Asp)
c.1376T>A (p.Val459Asp)
n.1332-609A>T
c.1556T>A (p.Val519Asp)
c.1658T>A (p.Val553Asp)
c.1598T>A (p.Val533Asp)
n.3607-609A>T
n.4043-609A>T
c.1481T>A (p.Val494Asp)
c.1499T>A (p.Val500Asp)
c.1256T>A (p.Val419Asp)
c.1289T>A (p.Val430Asp)
c.1307T>A (p.Val436Asp)
2g.127428873T>CCA348406645PROCc.1313T>C (p.Val438Ala)
c.637T>C
c.1415T>C (p.Val472Ala)
c.1496T>C (p.Val499Ala)
c.1478T>C (p.Val493Ala)
c.1376T>C (p.Val459Ala)
n.1332-609A>G
c.1556T>C (p.Val519Ala)
c.1658T>C (p.Val553Ala)
c.1598T>C (p.Val533Ala)
n.3607-609A>G
n.4043-609A>G
c.1481T>C (p.Val494Ala)
c.1499T>C (p.Val500Ala)
c.1256T>C (p.Val419Ala)
c.1289T>C (p.Val430Ala)
c.1307T>C (p.Val436Ala)
 ClinVar dbSNP gnomAD v4
2g.127428873T>GCA348406646PROCc.1313T>G (p.Val438Gly)
c.637T>G
c.1415T>G (p.Val472Gly)
c.1496T>G (p.Val499Gly)
c.1478T>G (p.Val493Gly)
c.1376T>G (p.Val459Gly)
n.1332-609A>C
c.1556T>G (p.Val519Gly)
c.1658T>G (p.Val553Gly)
c.1598T>G (p.Val533Gly)
n.3607-609A>C
n.4043-609A>C
c.1481T>G (p.Val494Gly)
c.1499T>G (p.Val500Gly)
c.1256T>G (p.Val419Gly)
c.1289T>G (p.Val430Gly)
c.1307T>G (p.Val436Gly)
2g.127428873T=CA1286884693PROCc.1313T= (p.Val438=)
c.637T=
c.1415T= (p.Val472=)
c.1496T= (p.Val499=)
c.1478T= (p.Val493=)
c.1376T= (p.Val459=)
n.1332-609A=
c.1556T= (p.Val519=)
c.1658T= (p.Val553=)
c.1598T= (p.Val533=)
n.3607-609A=
n.4043-609A=
c.1481T= (p.Val494=)
c.1499T= (p.Val500=)
c.1256T= (p.Val419=)
c.1289T= (p.Val430=)
c.1307T= (p.Val436=)
2g.127428874C>ACA428873110PROCc.1314C>A (p.Val438=)
c.638C>A
c.1416C>A (p.Val472=)
c.1497C>A (p.Val499=)
c.1479C>A (p.Val493=)
c.1377C>A (p.Val459=)
n.1332-610G>T
c.1557C>A (p.Val519=)
c.1659C>A (p.Val553=)
c.1599C>A (p.Val533=)
n.3607-610G>T
n.4043-610G>T
c.1482C>A (p.Val494=)
c.1500C>A (p.Val500=)
c.1257C>A (p.Val419=)
c.1290C>A (p.Val430=)
c.1308C>A (p.Val436=)
2g.127428874C=CA1286884694PROCc.1314C= (p.Val438=)
c.638C=
c.1416C= (p.Val472=)
c.1497C= (p.Val499=)
c.1479C= (p.Val493=)
c.1377C= (p.Val459=)
n.1332-610G=
c.1557C= (p.Val519=)
c.1659C= (p.Val553=)
c.1599C= (p.Val533=)
n.3607-610G=
n.4043-610G=
c.1482C= (p.Val494=)
c.1500C= (p.Val500=)
c.1257C= (p.Val419=)
c.1290C= (p.Val430=)
c.1308C= (p.Val436=)
2g.127428874C>GCA428873114PROCc.1314C>G (p.Val438=)
c.638C>G
c.1416C>G (p.Val472=)
c.1497C>G (p.Val499=)
c.1479C>G (p.Val493=)
c.1377C>G (p.Val459=)
n.1332-610G>C
c.1557C>G (p.Val519=)
c.1659C>G (p.Val553=)
c.1599C>G (p.Val533=)
n.3607-610G>C
n.4043-610G>C
c.1482C>G (p.Val494=)
c.1500C>G (p.Val500=)
c.1257C>G (p.Val419=)
c.1290C>G (p.Val430=)
c.1308C>G (p.Val436=)
2g.127428874C>TCA428873112PROCc.1314C>T (p.Val438=)
c.638C>T
c.1416C>T (p.Val472=)
c.1497C>T (p.Val499=)
c.1479C>T (p.Val493=)
c.1377C>T (p.Val459=)
n.1332-610G>A
c.1557C>T (p.Val519=)
c.1659C>T (p.Val553=)
c.1599C>T (p.Val533=)
n.3607-610G>A
n.4043-610G>A
c.1482C>T (p.Val494=)
c.1500C>T (p.Val500=)
c.1257C>T (p.Val419=)
c.1290C>T (p.Val430=)
c.1308C>T (p.Val436=)
 dbSNP
2g.127428875A>CCA348406647PROCc.1315A>C (p.Ser439Arg)
c.639A>C
c.1417A>C (p.Ser473Arg)
c.1498A>C (p.Ser500Arg)
c.1480A>C (p.Ser494Arg)
c.1378A>C (p.Ser460Arg)
n.1332-611T>G
c.1558A>C (p.Ser520Arg)
c.1660A>C (p.Ser554Arg)
c.1600A>C (p.Ser534Arg)
n.3607-611T>G
n.4043-611T>G
c.1483A>C (p.Ser495Arg)
c.1501A>C (p.Ser501Arg)
c.1258A>C (p.Ser420Arg)
c.1291A>C (p.Ser431Arg)
c.1309A>C (p.Ser437Arg)
2g.127428875A>GCA348406648PROCc.1315A>G (p.Ser439Gly)
c.639A>G
c.1417A>G (p.Ser473Gly)
c.1498A>G (p.Ser500Gly)
c.1480A>G (p.Ser494Gly)
c.1378A>G (p.Ser460Gly)
n.1332-611T>C
c.1558A>G (p.Ser520Gly)
c.1660A>G (p.Ser554Gly)
c.1600A>G (p.Ser534Gly)
n.3607-611T>C
n.4043-611T>C
c.1483A>G (p.Ser495Gly)
c.1501A>G (p.Ser501Gly)
c.1258A>G (p.Ser420Gly)
c.1291A>G (p.Ser431Gly)
c.1309A>G (p.Ser437Gly)
 gnomAD v4
2g.127428875A>TCA348406649PROCc.1315A>T (p.Ser439Cys)
c.639A>T
c.1417A>T (p.Ser473Cys)
c.1498A>T (p.Ser500Cys)
c.1480A>T (p.Ser494Cys)
c.1378A>T (p.Ser460Cys)
n.1332-611T>A
c.1558A>T (p.Ser520Cys)
c.1660A>T (p.Ser554Cys)
c.1600A>T (p.Ser534Cys)
n.3607-611T>A
n.4043-611T>A
c.1483A>T (p.Ser495Cys)
c.1501A>T (p.Ser501Cys)
c.1258A>T (p.Ser420Cys)
c.1291A>T (p.Ser431Cys)
c.1309A>T (p.Ser437Cys)
2g.127428876G>ACA348406650PROCc.1316G>A (p.Ser439Asn)
c.640G>A
c.1418G>A (p.Ser473Asn)
c.1499G>A (p.Ser500Asn)
c.1481G>A (p.Ser494Asn)
c.1379G>A (p.Ser460Asn)
n.1332-612C>T
c.1559G>A (p.Ser520Asn)
c.1661G>A (p.Ser554Asn)
c.1601G>A (p.Ser534Asn)
n.3607-612C>T
n.4043-612C>T
c.1484G>A (p.Ser495Asn)
c.1502G>A (p.Ser501Asn)
c.1259G>A (p.Ser420Asn)
c.1292G>A (p.Ser431Asn)
c.1310G>A (p.Ser437Asn)
2g.127428876G>CCA348406652PROCc.1316G>C (p.Ser439Thr)
c.640G>C
c.1418G>C (p.Ser473Thr)
c.1499G>C (p.Ser500Thr)
c.1481G>C (p.Ser494Thr)
c.1379G>C (p.Ser460Thr)
n.1332-612C>G
c.1559G>C (p.Ser520Thr)
c.1661G>C (p.Ser554Thr)
c.1601G>C (p.Ser534Thr)
n.3607-612C>G
n.4043-612C>G
c.1484G>C (p.Ser495Thr)
c.1502G>C (p.Ser501Thr)
c.1259G>C (p.Ser420Thr)
c.1292G>C (p.Ser431Thr)
c.1310G>C (p.Ser437Thr)
2g.127428876G>TCA348406651PROCc.1316G>T (p.Ser439Ile)
c.640G>T
c.1418G>T (p.Ser473Ile)
c.1499G>T (p.Ser500Ile)
c.1481G>T (p.Ser494Ile)
c.1379G>T (p.Ser460Ile)
n.1332-612C>A
c.1559G>T (p.Ser520Ile)
c.1661G>T (p.Ser554Ile)
c.1601G>T (p.Ser534Ile)
n.3607-612C>A
n.4043-612C>A
c.1484G>T (p.Ser495Ile)
c.1502G>T (p.Ser501Ile)
c.1259G>T (p.Ser420Ile)
c.1292G>T (p.Ser431Ile)
c.1310G>T (p.Ser437Ile)
 gnomAD v3 gnomAD v4
2g.127428877C>ACA348406653PROCc.1317C>A (p.Ser439Arg)
c.641C>A
c.1419C>A (p.Ser473Arg)
c.1500C>A (p.Ser500Arg)
c.1482C>A (p.Ser494Arg)
c.1380C>A (p.Ser460Arg)
n.1332-613G>T
c.1560C>A (p.Ser520Arg)
c.1662C>A (p.Ser554Arg)
c.1602C>A (p.Ser534Arg)
n.3607-613G>T
n.4043-613G>T
c.1485C>A (p.Ser495Arg)
c.1503C>A (p.Ser501Arg)
c.1260C>A (p.Ser420Arg)
c.1293C>A (p.Ser431Arg)
c.1311C>A (p.Ser437Arg)
2g.127428877C=CA1286884695PROCc.1317C= (p.Ser439=)
c.641C=
c.1419C= (p.Ser473=)
c.1500C= (p.Ser500=)
c.1482C= (p.Ser494=)
c.1380C= (p.Ser460=)
n.1332-613G=
c.1560C= (p.Ser520=)
c.1662C= (p.Ser554=)
c.1602C= (p.Ser534=)
n.3607-613G=
n.4043-613G=
c.1485C= (p.Ser495=)
c.1503C= (p.Ser501=)
c.1260C= (p.Ser420=)
c.1293C= (p.Ser431=)
c.1311C= (p.Ser437=)
2g.127428877C>GCA348406654PROCc.1317C>G (p.Ser439Arg)
c.641C>G
c.1419C>G (p.Ser473Arg)
c.1500C>G (p.Ser500Arg)
c.1482C>G (p.Ser494Arg)
c.1380C>G (p.Ser460Arg)
n.1332-613G>C
c.1560C>G (p.Ser520Arg)
c.1662C>G (p.Ser554Arg)
c.1602C>G (p.Ser534Arg)
n.3607-613G>C
n.4043-613G>C
c.1485C>G (p.Ser495Arg)
c.1503C>G (p.Ser501Arg)
c.1260C>G (p.Ser420Arg)
c.1293C>G (p.Ser431Arg)
c.1311C>G (p.Ser437Arg)
2g.127428877C>TCA428873136PROCc.1317C>T (p.Ser439=)
c.641C>T
c.1419C>T (p.Ser473=)
c.1500C>T (p.Ser500=)
c.1482C>T (p.Ser494=)
c.1380C>T (p.Ser460=)
n.1332-613G>A
c.1560C>T (p.Ser520=)
c.1662C>T (p.Ser554=)
c.1602C>T (p.Ser534=)
n.3607-613G>A
n.4043-613G>A
c.1485C>T (p.Ser495=)
c.1503C>T (p.Ser501=)
c.1260C>T (p.Ser420=)
c.1293C>T (p.Ser431=)
c.1311C>T (p.Ser437=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428878C>ACA348406655PROCc.1318C>A (p.Arg440Ser)
c.642C>A
c.1420C>A (p.Arg474Ser)
c.1501C>A (p.Arg501Ser)
c.1483C>A (p.Arg495Ser)
c.1381C>A (p.Arg461Ser)
n.1332-614G>T
c.1561C>A (p.Arg521Ser)
c.1663C>A (p.Arg555Ser)
c.1603C>A (p.Arg535Ser)
n.3607-614G>T
n.4043-614G>T
c.1486C>A (p.Arg496Ser)
c.1504C>A (p.Arg502Ser)
c.1261C>A (p.Arg421Ser)
c.1294C>A (p.Arg432Ser)
c.1312C>A (p.Arg438Ser)
2g.127428878C=CA1286884696PROCc.1318C= (p.Arg440=)
c.642C=
c.1420C= (p.Arg474=)
c.1501C= (p.Arg501=)
c.1483C= (p.Arg495=)
c.1381C= (p.Arg461=)
n.1332-614G=
c.1561C= (p.Arg521=)
c.1663C= (p.Arg555=)
c.1603C= (p.Arg535=)
n.3607-614G=
n.4043-614G=
c.1486C= (p.Arg496=)
c.1504C= (p.Arg502=)
c.1261C= (p.Arg421=)
c.1294C= (p.Arg432=)
c.1312C= (p.Arg438=)
2g.127428878C>GCA348406656PROCc.1318C>G (p.Arg440Gly)
c.642C>G
c.1420C>G (p.Arg474Gly)
c.1501C>G (p.Arg501Gly)
c.1483C>G (p.Arg495Gly)
c.1381C>G (p.Arg461Gly)
n.1332-614G>C
c.1561C>G (p.Arg521Gly)
c.1663C>G (p.Arg555Gly)
c.1603C>G (p.Arg535Gly)
n.3607-614G>C
n.4043-614G>C
c.1486C>G (p.Arg496Gly)
c.1504C>G (p.Arg502Gly)
c.1261C>G (p.Arg421Gly)
c.1294C>G (p.Arg432Gly)
c.1312C>G (p.Arg438Gly)
2g.127428878C>TCA10612236PROCc.1318C>T (p.Arg440Cys)
c.642C>T
c.1420C>T (p.Arg474Cys)
c.1501C>T (p.Arg501Cys)
c.1483C>T (p.Arg495Cys)
c.1381C>T (p.Arg461Cys)
n.1332-614G>A
c.1561C>T (p.Arg521Cys)
c.1663C>T (p.Arg555Cys)
c.1603C>T (p.Arg535Cys)
n.3607-614G>A
n.4043-614G>A
c.1486C>T (p.Arg496Cys)
c.1504C>T (p.Arg502Cys)
c.1261C>T (p.Arg421Cys)
c.1294C>T (p.Arg432Cys)
c.1312C>T (p.Arg438Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127428879G>ACA1859566PROCc.1319G>A (p.Arg440His)
c.643G>A
c.1421G>A (p.Arg474His)
c.1502G>A (p.Arg501His)
c.1484G>A (p.Arg495His)
c.1382G>A (p.Arg461His)
n.1332-615C>T
c.1562G>A (p.Arg521His)
c.1664G>A (p.Arg555His)
c.1604G>A (p.Arg535His)
n.3607-615C>T
n.4043-615C>T
c.1487G>A (p.Arg496His)
c.1505G>A (p.Arg502His)
c.1262G>A (p.Arg421His)
c.1295G>A (p.Arg432His)
c.1313G>A (p.Arg438His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127428879G>CCA348406657PROCc.1319G>C (p.Arg440Pro)
c.643G>C
c.1421G>C (p.Arg474Pro)
c.1502G>C (p.Arg501Pro)
c.1484G>C (p.Arg495Pro)
c.1382G>C (p.Arg461Pro)
n.1332-615C>G
c.1562G>C (p.Arg521Pro)
c.1664G>C (p.Arg555Pro)
c.1604G>C (p.Arg535Pro)
n.3607-615C>G
n.4043-615C>G
c.1487G>C (p.Arg496Pro)
c.1505G>C (p.Arg502Pro)
c.1262G>C (p.Arg421Pro)
c.1295G>C (p.Arg432Pro)
c.1313G>C (p.Arg438Pro)
2g.127428879G=CA1286884697PROCc.1319G= (p.Arg440=)
c.643G=
c.1421G= (p.Arg474=)
c.1502G= (p.Arg501=)
c.1484G= (p.Arg495=)
c.1382G= (p.Arg461=)
n.1332-615C=
c.1562G= (p.Arg521=)
c.1664G= (p.Arg555=)
c.1604G= (p.Arg535=)
n.3607-615C=
n.4043-615C=
c.1487G= (p.Arg496=)
c.1505G= (p.Arg502=)
c.1262G= (p.Arg421=)
c.1295G= (p.Arg432=)
c.1313G= (p.Arg438=)
2g.127428879G>TCA348406658PROCc.1319G>T (p.Arg440Leu)
c.643G>T
c.1421G>T (p.Arg474Leu)
c.1502G>T (p.Arg501Leu)
c.1484G>T (p.Arg495Leu)
c.1382G>T (p.Arg461Leu)
n.1332-615C>A
c.1562G>T (p.Arg521Leu)
c.1664G>T (p.Arg555Leu)
c.1604G>T (p.Arg535Leu)
n.3607-615C>A
n.4043-615C>A
c.1487G>T (p.Arg496Leu)
c.1505G>T (p.Arg502Leu)
c.1262G>T (p.Arg421Leu)
c.1295G>T (p.Arg432Leu)
c.1313G>T (p.Arg438Leu)
2g.127428880C>ACA428873154PROCc.1320C>A (p.Arg440=)
c.644C>A
c.1422C>A (p.Arg474=)
c.1503C>A (p.Arg501=)
c.1485C>A (p.Arg495=)
c.1383C>A (p.Arg461=)
n.1332-616G>T
c.1563C>A (p.Arg521=)
c.1665C>A (p.Arg555=)
c.1605C>A (p.Arg535=)
n.3607-616G>T
n.4043-616G>T
c.1488C>A (p.Arg496=)
c.1506C>A (p.Arg502=)
c.1263C>A (p.Arg421=)
c.1296C>A (p.Arg432=)
c.1314C>A (p.Arg438=)
2g.127428880C>GCA428873156PROCc.1320C>G (p.Arg440=)
c.644C>G
c.1422C>G (p.Arg474=)
c.1503C>G (p.Arg501=)
c.1485C>G (p.Arg495=)
c.1383C>G (p.Arg461=)
n.1332-616G>C
c.1563C>G (p.Arg521=)
c.1665C>G (p.Arg555=)
c.1605C>G (p.Arg535=)
n.3607-616G>C
n.4043-616G>C
c.1488C>G (p.Arg496=)
c.1506C>G (p.Arg502=)
c.1263C>G (p.Arg421=)
c.1296C>G (p.Arg432=)
c.1314C>G (p.Arg438=)
2g.127428880C>TCA428873159PROCc.1320C>T (p.Arg440=)
c.644C>T
c.1422C>T (p.Arg474=)
c.1503C>T (p.Arg501=)
c.1485C>T (p.Arg495=)
c.1383C>T (p.Arg461=)
n.1332-616G>A
c.1563C>T (p.Arg521=)
c.1665C>T (p.Arg555=)
c.1605C>T (p.Arg535=)
n.3607-616G>A
n.4043-616G>A
c.1488C>T (p.Arg496=)
c.1506C>T (p.Arg502=)
c.1263C>T (p.Arg421=)
c.1296C>T (p.Arg432=)
c.1314C>T (p.Arg438=)
2g.127428881T>ACA348406659PROCc.1321T>A (p.Tyr441Asn)
c.645T>A
c.1423T>A (p.Tyr475Asn)
c.1504T>A (p.Tyr502Asn)
c.1486T>A (p.Tyr496Asn)
c.1384T>A (p.Tyr462Asn)
n.1332-617A>T
c.1564T>A (p.Tyr522Asn)
c.1666T>A (p.Tyr556Asn)
c.1606T>A (p.Tyr536Asn)
n.3607-617A>T
n.4043-617A>T
c.1489T>A (p.Tyr497Asn)
c.1507T>A (p.Tyr503Asn)
c.1264T>A (p.Tyr422Asn)
c.1297T>A (p.Tyr433Asn)
c.1315T>A (p.Tyr439Asn)
2g.127428881T>CCA1859567PROCc.1321T>C (p.Tyr441His)
c.645T>C
c.1423T>C (p.Tyr475His)
c.1504T>C (p.Tyr502His)
c.1486T>C (p.Tyr496His)
c.1384T>C (p.Tyr462His)
n.1332-617A>G
c.1564T>C (p.Tyr522His)
c.1666T>C (p.Tyr556His)
c.1606T>C (p.Tyr536His)
n.3607-617A>G
n.4043-617A>G
c.1489T>C (p.Tyr497His)
c.1507T>C (p.Tyr503His)
c.1264T>C (p.Tyr422His)
c.1297T>C (p.Tyr433His)
c.1315T>C (p.Tyr439His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428881T>GCA348406660PROCc.1321T>G (p.Tyr441Asp)
c.645T>G
c.1423T>G (p.Tyr475Asp)
c.1504T>G (p.Tyr502Asp)
c.1486T>G (p.Tyr496Asp)
c.1384T>G (p.Tyr462Asp)
n.1332-617A>C
c.1564T>G (p.Tyr522Asp)
c.1666T>G (p.Tyr556Asp)
c.1606T>G (p.Tyr536Asp)
n.3607-617A>C
n.4043-617A>C
c.1489T>G (p.Tyr497Asp)
c.1507T>G (p.Tyr503Asp)
c.1264T>G (p.Tyr422Asp)
c.1297T>G (p.Tyr433Asp)
c.1315T>G (p.Tyr439Asp)
2g.127428881T=CA1286884698PROCc.1321T= (p.Tyr441=)
c.645T=
c.1423T= (p.Tyr475=)
c.1504T= (p.Tyr502=)
c.1486T= (p.Tyr496=)
c.1384T= (p.Tyr462=)
n.1332-617A=
c.1564T= (p.Tyr522=)
c.1666T= (p.Tyr556=)
c.1606T= (p.Tyr536=)
n.3607-617A=
n.4043-617A=
c.1489T= (p.Tyr497=)
c.1507T= (p.Tyr503=)
c.1264T= (p.Tyr422=)
c.1297T= (p.Tyr433=)
c.1315T= (p.Tyr439=)
2g.127428882A>CCA348406661PROCc.1322A>C (p.Tyr441Ser)
c.646A>C
c.1424A>C (p.Tyr475Ser)
c.1505A>C (p.Tyr502Ser)
c.1487A>C (p.Tyr496Ser)
c.1385A>C (p.Tyr462Ser)
n.1332-618T>G
c.1565A>C (p.Tyr522Ser)
c.1667A>C (p.Tyr556Ser)
c.1607A>C (p.Tyr536Ser)
n.3607-618T>G
n.4043-618T>G
c.1490A>C (p.Tyr497Ser)
c.1508A>C (p.Tyr503Ser)
c.1265A>C (p.Tyr422Ser)
c.1298A>C (p.Tyr433Ser)
c.1316A>C (p.Tyr439Ser)
2g.127428882A>GCA348406663PROCc.1322A>G (p.Tyr441Cys)
c.646A>G
c.1424A>G (p.Tyr475Cys)
c.1505A>G (p.Tyr502Cys)
c.1487A>G (p.Tyr496Cys)
c.1385A>G (p.Tyr462Cys)
n.1332-618T>C
c.1565A>G (p.Tyr522Cys)
c.1667A>G (p.Tyr556Cys)
c.1607A>G (p.Tyr536Cys)
n.3607-618T>C
n.4043-618T>C
c.1490A>G (p.Tyr497Cys)
c.1508A>G (p.Tyr503Cys)
c.1265A>G (p.Tyr422Cys)
c.1298A>G (p.Tyr433Cys)
c.1316A>G (p.Tyr439Cys)
2g.127428882A>TCA348406662PROCc.1322A>T (p.Tyr441Phe)
c.646A>T
c.1424A>T (p.Tyr475Phe)
c.1505A>T (p.Tyr502Phe)
c.1487A>T (p.Tyr496Phe)
c.1385A>T (p.Tyr462Phe)
n.1332-618T>A
c.1565A>T (p.Tyr522Phe)
c.1667A>T (p.Tyr556Phe)
c.1607A>T (p.Tyr536Phe)
n.3607-618T>A
n.4043-618T>A
c.1490A>T (p.Tyr497Phe)
c.1508A>T (p.Tyr503Phe)
c.1265A>T (p.Tyr422Phe)
c.1298A>T (p.Tyr433Phe)
c.1316A>T (p.Tyr439Phe)
 gnomAD v4
2g.127428883C>ACA348406664PROCc.1323C>A (p.Tyr441Ter)
c.647C>A
c.1425C>A (p.Tyr475Ter)
c.1506C>A (p.Tyr502Ter)
c.1488C>A (p.Tyr496Ter)
c.1386C>A (p.Tyr462Ter)
n.1332-619G>T
c.1566C>A (p.Tyr522Ter)
c.1668C>A (p.Tyr556Ter)
c.1608C>A (p.Tyr536Ter)
n.3607-619G>T
n.4043-619G>T
c.1491C>A (p.Tyr497Ter)
c.1509C>A (p.Tyr503Ter)
c.1266C>A (p.Tyr422Ter)
c.1299C>A (p.Tyr433Ter)
c.1317C>A (p.Tyr439Ter)
2g.127428883C>GCA348406665PROCc.1323C>G (p.Tyr441Ter)
c.647C>G
c.1425C>G (p.Tyr475Ter)
c.1506C>G (p.Tyr502Ter)
c.1488C>G (p.Tyr496Ter)
c.1386C>G (p.Tyr462Ter)
n.1332-619G>C
c.1566C>G (p.Tyr522Ter)
c.1668C>G (p.Tyr556Ter)
c.1608C>G (p.Tyr536Ter)
n.3607-619G>C
n.4043-619G>C
c.1491C>G (p.Tyr497Ter)
c.1509C>G (p.Tyr503Ter)
c.1266C>G (p.Tyr422Ter)
c.1299C>G (p.Tyr433Ter)
c.1317C>G (p.Tyr439Ter)
2g.127428883C>TCA428873173PROCc.1323C>T (p.Tyr441=)
c.647C>T
c.1425C>T (p.Tyr475=)
c.1506C>T (p.Tyr502=)
c.1488C>T (p.Tyr496=)
c.1386C>T (p.Tyr462=)
n.1332-619G>A
c.1566C>T (p.Tyr522=)
c.1668C>T (p.Tyr556=)
c.1608C>T (p.Tyr536=)
n.3607-619G>A
n.4043-619G>A
c.1491C>T (p.Tyr497=)
c.1509C>T (p.Tyr503=)
c.1266C>T (p.Tyr422=)
c.1299C>T (p.Tyr433=)
c.1317C>T (p.Tyr439=)
2g.127428884C>ACA348406666PROCc.1324C>A (p.Leu442Ile)
c.648C>A
c.1426C>A (p.Leu476Ile)
c.1507C>A (p.Leu503Ile)
c.1489C>A (p.Leu497Ile)
c.1387C>A (p.Leu463Ile)
n.1332-620G>T
c.1567C>A (p.Leu523Ile)
c.1669C>A (p.Leu557Ile)
c.1609C>A (p.Leu537Ile)
n.3607-620G>T
n.4043-620G>T
c.1492C>A (p.Leu498Ile)
c.1510C>A (p.Leu504Ile)
c.1267C>A (p.Leu423Ile)
c.1300C>A (p.Leu434Ile)
c.1318C>A (p.Leu440Ile)
 dbSNP gnomAD v4
2g.127428884C=CA1286884699PROCc.1324C= (p.Leu442=)
c.648C=
c.1426C= (p.Leu476=)
c.1507C= (p.Leu503=)
c.1489C= (p.Leu497=)
c.1387C= (p.Leu463=)
n.1332-620G=
c.1567C= (p.Leu523=)
c.1669C= (p.Leu557=)
c.1609C= (p.Leu537=)
n.3607-620G=
n.4043-620G=
c.1492C= (p.Leu498=)
c.1510C= (p.Leu504=)
c.1267C= (p.Leu423=)
c.1300C= (p.Leu434=)
c.1318C= (p.Leu440=)
2g.127428884C>GCA348406667PROCc.1324C>G (p.Leu442Val)
c.648C>G
c.1426C>G (p.Leu476Val)
c.1507C>G (p.Leu503Val)
c.1489C>G (p.Leu497Val)
c.1387C>G (p.Leu463Val)
n.1332-620G>C
c.1567C>G (p.Leu523Val)
c.1669C>G (p.Leu557Val)
c.1609C>G (p.Leu537Val)
n.3607-620G>C
n.4043-620G>C
c.1492C>G (p.Leu498Val)
c.1510C>G (p.Leu504Val)
c.1267C>G (p.Leu423Val)
c.1300C>G (p.Leu434Val)
c.1318C>G (p.Leu440Val)
2g.127428884C>TCA348406668PROCc.1324C>T (p.Leu442Phe)
c.648C>T
c.1426C>T (p.Leu476Phe)
c.1507C>T (p.Leu503Phe)
c.1489C>T (p.Leu497Phe)
c.1387C>T (p.Leu463Phe)
n.1332-620G>A
c.1567C>T (p.Leu523Phe)
c.1669C>T (p.Leu557Phe)
c.1609C>T (p.Leu537Phe)
n.3607-620G>A
n.4043-620G>A
c.1492C>T (p.Leu498Phe)
c.1510C>T (p.Leu504Phe)
c.1267C>T (p.Leu423Phe)
c.1300C>T (p.Leu434Phe)
c.1318C>T (p.Leu440Phe)
2g.127428885T>ACA348406669PROCc.1325T>A (p.Leu442His)
c.649T>A
c.1427T>A (p.Leu476His)
c.1508T>A (p.Leu503His)
c.1490T>A (p.Leu497His)
c.1388T>A (p.Leu463His)
n.1332-621A>T
c.1568T>A (p.Leu523His)
c.1670T>A (p.Leu557His)
c.1610T>A (p.Leu537His)
n.3607-621A>T
n.4043-621A>T
c.1493T>A (p.Leu498His)
c.1511T>A (p.Leu504His)
c.1268T>A (p.Leu423His)
c.1301T>A (p.Leu434His)
c.1319T>A (p.Leu440His)
2g.127428885T>CCA348406670PROCc.1325T>C (p.Leu442Pro)
c.649T>C
c.1427T>C (p.Leu476Pro)
c.1508T>C (p.Leu503Pro)
c.1490T>C (p.Leu497Pro)
c.1388T>C (p.Leu463Pro)
n.1332-621A>G
c.1568T>C (p.Leu523Pro)
c.1670T>C (p.Leu557Pro)
c.1610T>C (p.Leu537Pro)
n.3607-621A>G
n.4043-621A>G
c.1493T>C (p.Leu498Pro)
c.1511T>C (p.Leu504Pro)
c.1268T>C (p.Leu423Pro)
c.1301T>C (p.Leu434Pro)
c.1319T>C (p.Leu440Pro)
2g.127428885T>GCA348406671PROCc.1325T>G (p.Leu442Arg)
c.649T>G
c.1427T>G (p.Leu476Arg)
c.1508T>G (p.Leu503Arg)
c.1490T>G (p.Leu497Arg)
c.1388T>G (p.Leu463Arg)
n.1332-621A>C
c.1568T>G (p.Leu523Arg)
c.1670T>G (p.Leu557Arg)
c.1610T>G (p.Leu537Arg)
n.3607-621A>C
n.4043-621A>C
c.1493T>G (p.Leu498Arg)
c.1511T>G (p.Leu504Arg)
c.1268T>G (p.Leu423Arg)
c.1301T>G (p.Leu434Arg)
c.1319T>G (p.Leu440Arg)
2g.127428886C>ACA428873191PROCc.1326C>A (p.Leu442=)
c.650C>A
c.1428C>A (p.Leu476=)
c.1509C>A (p.Leu503=)
c.1491C>A (p.Leu497=)
c.1389C>A (p.Leu463=)
n.1332-622G>T
c.1569C>A (p.Leu523=)
c.1671C>A (p.Leu557=)
c.1611C>A (p.Leu537=)
n.3607-622G>T
n.4043-622G>T
c.1494C>A (p.Leu498=)
c.1512C>A (p.Leu504=)
c.1269C>A (p.Leu423=)
c.1302C>A (p.Leu434=)
c.1320C>A (p.Leu440=)
2g.127428886C=CA1286884700PROCc.1326C= (p.Leu442=)
c.650C=
c.1428C= (p.Leu476=)
c.1509C= (p.Leu503=)
c.1491C= (p.Leu497=)
c.1389C= (p.Leu463=)
n.1332-622G=
c.1569C= (p.Leu523=)
c.1671C= (p.Leu557=)
c.1611C= (p.Leu537=)
n.3607-622G=
n.4043-622G=
c.1494C= (p.Leu498=)
c.1512C= (p.Leu504=)
c.1269C= (p.Leu423=)
c.1302C= (p.Leu434=)
c.1320C= (p.Leu440=)
2g.127428886C>GCA55351504PROCc.1326C>G (p.Leu442=)
c.650C>G
c.1428C>G (p.Leu476=)
c.1509C>G (p.Leu503=)
c.1491C>G (p.Leu497=)
c.1389C>G (p.Leu463=)
n.1332-622G>C
c.1569C>G (p.Leu523=)
c.1671C>G (p.Leu557=)
c.1611C>G (p.Leu537=)
n.3607-622G>C
n.4043-622G>C
c.1494C>G (p.Leu498=)
c.1512C>G (p.Leu504=)
c.1269C>G (p.Leu423=)
c.1302C>G (p.Leu434=)
c.1320C>G (p.Leu440=)
 dbSNP gnomAD v4
2g.127428886C>TCA1859568PROCc.1326C>T (p.Leu442=)
c.650C>T
c.1428C>T (p.Leu476=)
c.1509C>T (p.Leu503=)
c.1491C>T (p.Leu497=)
c.1389C>T (p.Leu463=)
n.1332-622G>A
c.1569C>T (p.Leu523=)
c.1671C>T (p.Leu557=)
c.1611C>T (p.Leu537=)
n.3607-622G>A
n.4043-622G>A
c.1494C>T (p.Leu498=)
c.1512C>T (p.Leu504=)
c.1269C>T (p.Leu423=)
c.1302C>T (p.Leu434=)
c.1320C>T (p.Leu440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428887G>ACA348406672PROCc.1327G>A (p.Asp443Asn)
c.651G>A
c.1429G>A (p.Asp477Asn)
c.1510G>A (p.Asp504Asn)
c.1492G>A (p.Asp498Asn)
c.1390G>A (p.Asp464Asn)
n.1332-623C>T
c.1570G>A (p.Asp524Asn)
c.1672G>A (p.Asp558Asn)
c.1612G>A (p.Asp538Asn)
n.3607-623C>T
n.4043-623C>T
c.1495G>A (p.Asp499Asn)
c.1513G>A (p.Asp505Asn)
c.1270G>A (p.Asp424Asn)
c.1303G>A (p.Asp435Asn)
c.1321G>A (p.Asp441Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428887G>CCA348406673PROCc.1327G>C (p.Asp443His)
c.651G>C
c.1429G>C (p.Asp477His)
c.1510G>C (p.Asp504His)
c.1492G>C (p.Asp498His)
c.1390G>C (p.Asp464His)
n.1332-623C>G
c.1570G>C (p.Asp524His)
c.1672G>C (p.Asp558His)
c.1612G>C (p.Asp538His)
n.3607-623C>G
n.4043-623C>G
c.1495G>C (p.Asp499His)
c.1513G>C (p.Asp505His)
c.1270G>C (p.Asp424His)
c.1303G>C (p.Asp435His)
c.1321G>C (p.Asp441His)
 gnomAD v4
2g.127428887G=CA1286884701PROCc.1327G= (p.Asp443=)
c.651G=
c.1429G= (p.Asp477=)
c.1510G= (p.Asp504=)
c.1492G= (p.Asp498=)
c.1390G= (p.Asp464=)
n.1332-623C=
c.1570G= (p.Asp524=)
c.1672G= (p.Asp558=)
c.1612G= (p.Asp538=)
n.3607-623C=
n.4043-623C=
c.1495G= (p.Asp499=)
c.1513G= (p.Asp505=)
c.1270G= (p.Asp424=)
c.1303G= (p.Asp435=)
c.1321G= (p.Asp441=)
2g.127428887G>TCA348406674PROCc.1327G>T (p.Asp443Tyr)
c.651G>T
c.1429G>T (p.Asp477Tyr)
c.1510G>T (p.Asp504Tyr)
c.1492G>T (p.Asp498Tyr)
c.1390G>T (p.Asp464Tyr)
n.1332-623C>A
c.1570G>T (p.Asp524Tyr)
c.1672G>T (p.Asp558Tyr)
c.1612G>T (p.Asp538Tyr)
n.3607-623C>A
n.4043-623C>A
c.1495G>T (p.Asp499Tyr)
c.1513G>T (p.Asp505Tyr)
c.1270G>T (p.Asp424Tyr)
c.1303G>T (p.Asp435Tyr)
c.1321G>T (p.Asp441Tyr)
 gnomAD v4
2g.127428888A>CCA348406677PROCc.1328A>C (p.Asp443Ala)
c.652A>C
c.1430A>C (p.Asp477Ala)
c.1511A>C (p.Asp504Ala)
c.1493A>C (p.Asp498Ala)
c.1391A>C (p.Asp464Ala)
n.1332-624T>G
c.1571A>C (p.Asp524Ala)
c.1673A>C (p.Asp558Ala)
c.1613A>C (p.Asp538Ala)
n.3607-624T>G
n.4043-624T>G
c.1496A>C (p.Asp499Ala)
c.1514A>C (p.Asp505Ala)
c.1271A>C (p.Asp424Ala)
c.1304A>C (p.Asp435Ala)
c.1322A>C (p.Asp441Ala)
2g.127428888A>GCA348406676PROCc.1328A>G (p.Asp443Gly)
c.652A>G
c.1430A>G (p.Asp477Gly)
c.1511A>G (p.Asp504Gly)
c.1493A>G (p.Asp498Gly)
c.1391A>G (p.Asp464Gly)
n.1332-624T>C
c.1571A>G (p.Asp524Gly)
c.1673A>G (p.Asp558Gly)
c.1613A>G (p.Asp538Gly)
n.3607-624T>C
n.4043-624T>C
c.1496A>G (p.Asp499Gly)
c.1514A>G (p.Asp505Gly)
c.1271A>G (p.Asp424Gly)
c.1304A>G (p.Asp435Gly)
c.1322A>G (p.Asp441Gly)
2g.127428888A>TCA348406675PROCc.1328A>T (p.Asp443Val)
c.652A>T
c.1430A>T (p.Asp477Val)
c.1511A>T (p.Asp504Val)
c.1493A>T (p.Asp498Val)
c.1391A>T (p.Asp464Val)
n.1332-624T>A
c.1571A>T (p.Asp524Val)
c.1673A>T (p.Asp558Val)
c.1613A>T (p.Asp538Val)
n.3607-624T>A
n.4043-624T>A
c.1496A>T (p.Asp499Val)
c.1514A>T (p.Asp505Val)
c.1271A>T (p.Asp424Val)
c.1304A>T (p.Asp435Val)
c.1322A>T (p.Asp441Val)
2g.127428889C>ACA348406678PROCc.1329C>A (p.Asp443Glu)
c.653C>A
c.1431C>A (p.Asp477Glu)
c.1512C>A (p.Asp504Glu)
c.1494C>A (p.Asp498Glu)
c.1392C>A (p.Asp464Glu)
n.1332-625G>T
c.1572C>A (p.Asp524Glu)
c.1674C>A (p.Asp558Glu)
c.1614C>A (p.Asp538Glu)
n.3607-625G>T
n.4043-625G>T
c.1497C>A (p.Asp499Glu)
c.1515C>A (p.Asp505Glu)
c.1272C>A (p.Asp424Glu)
c.1305C>A (p.Asp435Glu)
c.1323C>A (p.Asp441Glu)
2g.127428889C>GCA348406679PROCc.1329C>G (p.Asp443Glu)
c.653C>G
c.1431C>G (p.Asp477Glu)
c.1512C>G (p.Asp504Glu)
c.1494C>G (p.Asp498Glu)
c.1392C>G (p.Asp464Glu)
n.1332-625G>C
c.1572C>G (p.Asp524Glu)
c.1674C>G (p.Asp558Glu)
c.1614C>G (p.Asp538Glu)
n.3607-625G>C
n.4043-625G>C
c.1497C>G (p.Asp499Glu)
c.1515C>G (p.Asp505Glu)
c.1272C>G (p.Asp424Glu)
c.1305C>G (p.Asp435Glu)
c.1323C>G (p.Asp441Glu)
2g.127428889C>TCA428873217PROCc.1329C>T (p.Asp443=)
c.653C>T
c.1431C>T (p.Asp477=)
c.1512C>T (p.Asp504=)
c.1494C>T (p.Asp498=)
c.1392C>T (p.Asp464=)
n.1332-625G>A
c.1572C>T (p.Asp524=)
c.1674C>T (p.Asp558=)
c.1614C>T (p.Asp538=)
n.3607-625G>A
n.4043-625G>A
c.1497C>T (p.Asp499=)
c.1515C>T (p.Asp505=)
c.1272C>T (p.Asp424=)
c.1305C>T (p.Asp435=)
c.1323C>T (p.Asp441=)
 ClinVar
2g.127428890T>ACA348406680PROCc.1330T>A (p.Trp444Arg)
c.654T>A
c.1432T>A (p.Trp478Arg)
c.1513T>A (p.Trp505Arg)
c.1495T>A (p.Trp499Arg)
c.1393T>A (p.Trp465Arg)
n.1332-626A>T
c.1573T>A (p.Trp525Arg)
c.1675T>A (p.Trp559Arg)
c.1615T>A (p.Trp539Arg)
n.3607-626A>T
n.4043-626A>T
c.1498T>A (p.Trp500Arg)
c.1516T>A (p.Trp506Arg)
c.1273T>A (p.Trp425Arg)
c.1306T>A (p.Trp436Arg)
c.1324T>A (p.Trp442Arg)
2g.127428890T>CCA348406681PROCc.1330T>C (p.Trp444Arg)
c.654T>C
c.1432T>C (p.Trp478Arg)
c.1513T>C (p.Trp505Arg)
c.1495T>C (p.Trp499Arg)
c.1393T>C (p.Trp465Arg)
n.1332-626A>G
c.1573T>C (p.Trp525Arg)
c.1675T>C (p.Trp559Arg)
c.1615T>C (p.Trp539Arg)
n.3607-626A>G
n.4043-626A>G
c.1498T>C (p.Trp500Arg)
c.1516T>C (p.Trp506Arg)
c.1273T>C (p.Trp425Arg)
c.1306T>C (p.Trp436Arg)
c.1324T>C (p.Trp442Arg)
 dbSNP
2g.127428890T>GCA348406682PROCc.1330T>G (p.Trp444Gly)
c.654T>G
c.1432T>G (p.Trp478Gly)
c.1513T>G (p.Trp505Gly)
c.1495T>G (p.Trp499Gly)
c.1393T>G (p.Trp465Gly)
n.1332-626A>C
c.1573T>G (p.Trp525Gly)
c.1675T>G (p.Trp559Gly)
c.1615T>G (p.Trp539Gly)
n.3607-626A>C
n.4043-626A>C
c.1498T>G (p.Trp500Gly)
c.1516T>G (p.Trp506Gly)
c.1273T>G (p.Trp425Gly)
c.1306T>G (p.Trp436Gly)
c.1324T>G (p.Trp442Gly)
2g.127428890T=CA1286884702PROCc.1330T= (p.Trp444=)
c.654T=
c.1432T= (p.Trp478=)
c.1513T= (p.Trp505=)
c.1495T= (p.Trp499=)
c.1393T= (p.Trp465=)
n.1332-626A=
c.1573T= (p.Trp525=)
c.1675T= (p.Trp559=)
c.1615T= (p.Trp539=)
n.3607-626A=
n.4043-626A=
c.1498T= (p.Trp500=)
c.1516T= (p.Trp506=)
c.1273T= (p.Trp425=)
c.1306T= (p.Trp436=)
c.1324T= (p.Trp442=)
2g.127428891G>ACA348406683PROCc.1331G>A (p.Trp444Ter)
c.655G>A
c.1433G>A (p.Trp478Ter)
c.1514G>A (p.Trp505Ter)
c.1496G>A (p.Trp499Ter)
c.1394G>A (p.Trp465Ter)
n.1332-627C>T
c.1574G>A (p.Trp525Ter)
c.1676G>A (p.Trp559Ter)
c.1616G>A (p.Trp539Ter)
n.3607-627C>T
n.4043-627C>T
c.1499G>A (p.Trp500Ter)
c.1517G>A (p.Trp506Ter)
c.1274G>A (p.Trp425Ter)
c.1307G>A (p.Trp436Ter)
c.1325G>A (p.Trp442Ter)
 ClinVar dbSNP COSMIC
2g.127428891G>CCA348406684PROCc.1331G>C (p.Trp444Ser)
c.655G>C
c.1433G>C (p.Trp478Ser)
c.1514G>C (p.Trp505Ser)
c.1496G>C (p.Trp499Ser)
c.1394G>C (p.Trp465Ser)
n.1332-627C>G
c.1574G>C (p.Trp525Ser)
c.1676G>C (p.Trp559Ser)
c.1616G>C (p.Trp539Ser)
n.3607-627C>G
n.4043-627C>G
c.1499G>C (p.Trp500Ser)
c.1517G>C (p.Trp506Ser)
c.1274G>C (p.Trp425Ser)
c.1307G>C (p.Trp436Ser)
c.1325G>C (p.Trp442Ser)
2g.127428891G=CA1286884703PROCc.1331G= (p.Trp444=)
c.655G=
c.1433G= (p.Trp478=)
c.1514G= (p.Trp505=)
c.1496G= (p.Trp499=)
c.1394G= (p.Trp465=)
n.1332-627C=
c.1574G= (p.Trp525=)
c.1676G= (p.Trp559=)
c.1616G= (p.Trp539=)
n.3607-627C=
n.4043-627C=
c.1499G= (p.Trp500=)
c.1517G= (p.Trp506=)
c.1274G= (p.Trp425=)
c.1307G= (p.Trp436=)
c.1325G= (p.Trp442=)
2g.127428891G>TCA348406685PROCc.1331G>T (p.Trp444Leu)
c.655G>T
c.1433G>T (p.Trp478Leu)
c.1514G>T (p.Trp505Leu)
c.1496G>T (p.Trp499Leu)
c.1394G>T (p.Trp465Leu)
n.1332-627C>A
c.1574G>T (p.Trp525Leu)
c.1676G>T (p.Trp559Leu)
c.1616G>T (p.Trp539Leu)
n.3607-627C>A
n.4043-627C>A
c.1499G>T (p.Trp500Leu)
c.1517G>T (p.Trp506Leu)
c.1274G>T (p.Trp425Leu)
c.1307G>T (p.Trp436Leu)
c.1325G>T (p.Trp442Leu)
2g.127428892G>ACA348406686PROCc.1332G>A (p.Trp444Ter)
c.656G>A
c.1434G>A (p.Trp478Ter)
c.1515G>A (p.Trp505Ter)
c.1497G>A (p.Trp499Ter)
c.1395G>A (p.Trp465Ter)
n.1332-628C>T
c.1575G>A (p.Trp525Ter)
c.1677G>A (p.Trp559Ter)
c.1617G>A (p.Trp539Ter)
n.3607-628C>T
n.4043-628C>T
c.1500G>A (p.Trp500Ter)
c.1518G>A (p.Trp506Ter)
c.1275G>A (p.Trp425Ter)
c.1308G>A (p.Trp436Ter)
c.1326G>A (p.Trp442Ter)
2g.127428892G>CCA114387PROCc.1332G>C (p.Trp444Cys)
c.656G>C
c.1434G>C (p.Trp478Cys)
c.1515G>C (p.Trp505Cys)
c.1497G>C (p.Trp499Cys)
c.1395G>C (p.Trp465Cys)
n.1332-628C>G
c.1575G>C (p.Trp525Cys)
c.1677G>C (p.Trp559Cys)
c.1617G>C (p.Trp539Cys)
n.3607-628C>G
n.4043-628C>G
c.1500G>C (p.Trp500Cys)
c.1518G>C (p.Trp506Cys)
c.1275G>C (p.Trp425Cys)
c.1308G>C (p.Trp436Cys)
c.1326G>C (p.Trp442Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127428892G=CA1286884704PROCc.1332G= (p.Trp444=)
c.656G=
c.1434G= (p.Trp478=)
c.1515G= (p.Trp505=)
c.1497G= (p.Trp499=)
c.1395G= (p.Trp465=)
n.1332-628C=
c.1575G= (p.Trp525=)
c.1677G= (p.Trp559=)
c.1617G= (p.Trp539=)
n.3607-628C=
n.4043-628C=
c.1500G= (p.Trp500=)
c.1518G= (p.Trp506=)
c.1275G= (p.Trp425=)
c.1308G= (p.Trp436=)
c.1326G= (p.Trp442=)
2g.127428892G>TCA348406687PROCc.1332G>T (p.Trp444Cys)
c.656G>T
c.1434G>T (p.Trp478Cys)
c.1515G>T (p.Trp505Cys)
c.1497G>T (p.Trp499Cys)
c.1395G>T (p.Trp465Cys)
n.1332-628C>A
c.1575G>T (p.Trp525Cys)
c.1677G>T (p.Trp559Cys)
c.1617G>T (p.Trp539Cys)
n.3607-628C>A
n.4043-628C>A
c.1500G>T (p.Trp500Cys)
c.1518G>T (p.Trp506Cys)
c.1275G>T (p.Trp425Cys)
c.1308G>T (p.Trp436Cys)
c.1326G>T (p.Trp442Cys)
2g.127428893A=CA1286884705PROCc.1333A= (p.Ile445=)
c.657A=
c.1435A= (p.Ile479=)
c.1516A= (p.Ile506=)
c.1498A= (p.Ile500=)
c.1396A= (p.Ile466=)
n.1332-629T=
c.1576A= (p.Ile526=)
c.1678A= (p.Ile560=)
c.1618A= (p.Ile540=)
n.3607-629T=
n.4043-629T=
c.1501A= (p.Ile501=)
c.1519A= (p.Ile507=)
c.1276A= (p.Ile426=)
c.1309A= (p.Ile437=)
c.1327A= (p.Ile443=)
2g.127428893A>CCA1859569PROCc.1333A>C (p.Ile445Leu)
c.657A>C
c.1435A>C (p.Ile479Leu)
c.1516A>C (p.Ile506Leu)
c.1498A>C (p.Ile500Leu)
c.1396A>C (p.Ile466Leu)
n.1332-629T>G
c.1576A>C (p.Ile526Leu)
c.1678A>C (p.Ile560Leu)
c.1618A>C (p.Ile540Leu)
n.3607-629T>G
n.4043-629T>G
c.1501A>C (p.Ile501Leu)
c.1519A>C (p.Ile507Leu)
c.1276A>C (p.Ile426Leu)
c.1309A>C (p.Ile437Leu)
c.1327A>C (p.Ile443Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428893A>GCA348406689PROCc.1333A>G (p.Ile445Val)
c.657A>G
c.1435A>G (p.Ile479Val)
c.1516A>G (p.Ile506Val)
c.1498A>G (p.Ile500Val)
c.1396A>G (p.Ile466Val)
n.1332-629T>C
c.1576A>G (p.Ile526Val)
c.1678A>G (p.Ile560Val)
c.1618A>G (p.Ile540Val)
n.3607-629T>C
n.4043-629T>C
c.1501A>G (p.Ile501Val)
c.1519A>G (p.Ile507Val)
c.1276A>G (p.Ile426Val)
c.1309A>G (p.Ile437Val)
c.1327A>G (p.Ile443Val)
2g.127428893A>TCA348406688PROCc.1333A>T (p.Ile445Phe)
c.657A>T
c.1435A>T (p.Ile479Phe)
c.1516A>T (p.Ile506Phe)
c.1498A>T (p.Ile500Phe)
c.1396A>T (p.Ile466Phe)
n.1332-629T>A
c.1576A>T (p.Ile526Phe)
c.1678A>T (p.Ile560Phe)
c.1618A>T (p.Ile540Phe)
n.3607-629T>A
n.4043-629T>A
c.1501A>T (p.Ile501Phe)
c.1519A>T (p.Ile507Phe)
c.1276A>T (p.Ile426Phe)
c.1309A>T (p.Ile437Phe)
c.1327A>T (p.Ile443Phe)
2g.127428894T>ACA348406690PROCc.1334T>A (p.Ile445Asn)
c.658T>A
c.1436T>A (p.Ile479Asn)
c.1517T>A (p.Ile506Asn)
c.1499T>A (p.Ile500Asn)
c.1397T>A (p.Ile466Asn)
n.1332-630A>T
c.1577T>A (p.Ile526Asn)
c.1679T>A (p.Ile560Asn)
c.1619T>A (p.Ile540Asn)
n.3607-630A>T
n.4043-630A>T
c.1502T>A (p.Ile501Asn)
c.1520T>A (p.Ile507Asn)
c.1277T>A (p.Ile426Asn)
c.1310T>A (p.Ile437Asn)
c.1328T>A (p.Ile443Asn)
2g.127428894T>CCA348406691PROCc.1334T>C (p.Ile445Thr)
c.658T>C
c.1436T>C (p.Ile479Thr)
c.1517T>C (p.Ile506Thr)
c.1499T>C (p.Ile500Thr)
c.1397T>C (p.Ile466Thr)
n.1332-630A>G
c.1577T>C (p.Ile526Thr)
c.1679T>C (p.Ile560Thr)
c.1619T>C (p.Ile540Thr)
n.3607-630A>G
n.4043-630A>G
c.1502T>C (p.Ile501Thr)
c.1520T>C (p.Ile507Thr)
c.1277T>C (p.Ile426Thr)
c.1310T>C (p.Ile437Thr)
c.1328T>C (p.Ile443Thr)
2g.127428894T>GCA348406692PROCc.1334T>G (p.Ile445Ser)
c.658T>G
c.1436T>G (p.Ile479Ser)
c.1517T>G (p.Ile506Ser)
c.1499T>G (p.Ile500Ser)
c.1397T>G (p.Ile466Ser)
n.1332-630A>C
c.1577T>G (p.Ile526Ser)
c.1679T>G (p.Ile560Ser)
c.1619T>G (p.Ile540Ser)
n.3607-630A>C
n.4043-630A>C
c.1502T>G (p.Ile501Ser)
c.1520T>G (p.Ile507Ser)
c.1277T>G (p.Ile426Ser)
c.1310T>G (p.Ile437Ser)
c.1328T>G (p.Ile443Ser)
2g.127428895C>ACA428873270PROCc.1335C>A (p.Ile445=)
c.659C>A
c.1437C>A (p.Ile479=)
c.1518C>A (p.Ile506=)
c.1500C>A (p.Ile500=)
c.1398C>A (p.Ile466=)
n.1332-631G>T
c.1578C>A (p.Ile526=)
c.1680C>A (p.Ile560=)
c.1620C>A (p.Ile540=)
n.3607-631G>T
n.4043-631G>T
c.1503C>A (p.Ile501=)
c.1521C>A (p.Ile507=)
c.1278C>A (p.Ile426=)
c.1311C>A (p.Ile437=)
c.1329C>A (p.Ile443=)
2g.127428895C=CA1286884706PROCc.1335C= (p.Ile445=)
c.659C=
c.1437C= (p.Ile479=)
c.1518C= (p.Ile506=)
c.1500C= (p.Ile500=)
c.1398C= (p.Ile466=)
n.1332-631G=
c.1578C= (p.Ile526=)
c.1680C= (p.Ile560=)
c.1620C= (p.Ile540=)
n.3607-631G=
n.4043-631G=
c.1503C= (p.Ile501=)
c.1521C= (p.Ile507=)
c.1278C= (p.Ile426=)
c.1311C= (p.Ile437=)
c.1329C= (p.Ile443=)
2g.127428895C>GCA114422PROCc.1335C>G (p.Ile445Met)
c.659C>G
c.1437C>G (p.Ile479Met)
c.1518C>G (p.Ile506Met)
c.1500C>G (p.Ile500Met)
c.1398C>G (p.Ile466Met)
n.1332-631G>C
c.1578C>G (p.Ile526Met)
c.1680C>G (p.Ile560Met)
c.1620C>G (p.Ile540Met)
n.3607-631G>C
n.4043-631G>C
c.1503C>G (p.Ile501Met)
c.1521C>G (p.Ile507Met)
c.1278C>G (p.Ile426Met)
c.1311C>G (p.Ile437Met)
c.1329C>G (p.Ile443Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428895C>TCA428873275PROCc.1335C>T (p.Ile445=)
c.659C>T
c.1437C>T (p.Ile479=)
c.1518C>T (p.Ile506=)
c.1500C>T (p.Ile500=)
c.1398C>T (p.Ile466=)
n.1332-631G>A
c.1578C>T (p.Ile526=)
c.1680C>T (p.Ile560=)
c.1620C>T (p.Ile540=)
n.3607-631G>A
n.4043-631G>A
c.1503C>T (p.Ile501=)
c.1521C>T (p.Ile507=)
c.1278C>T (p.Ile426=)
c.1311C>T (p.Ile437=)
c.1329C>T (p.Ile443=)
 ClinVar
2g.127428896delCA2586969926PROCc.1336del (p.His446MetfsTer?)
c.660del
c.1438del (p.His480MetfsTer?)
c.1519del (p.His507MetfsTer?)
c.1501del (p.His501MetfsTer?)
c.1399del (p.His467MetfsTer?)
n.1332-631del
c.1579del (p.His527MetfsTer?)
c.1681del (p.His561MetfsTer?)
c.1621del (p.His541MetfsTer?)
n.3607-631del
n.4043-631del
c.1504del (p.His502MetfsTer?)
c.1522del (p.His508MetfsTer?)
c.1279del (p.His427MetfsTer?)
c.1312del (p.His438MetfsTer?)
c.1330del (p.His444MetfsTer?)
2g.127428896C>ACA348406693PROCc.1336C>A (p.His446Asn)
c.660C>A
c.1438C>A (p.His480Asn)
c.1519C>A (p.His507Asn)
c.1501C>A (p.His501Asn)
c.1399C>A (p.His467Asn)
n.1332-632G>T
c.1579C>A (p.His527Asn)
c.1681C>A (p.His561Asn)
c.1621C>A (p.His541Asn)
n.3607-632G>T
n.4043-632G>T
c.1504C>A (p.His502Asn)
c.1522C>A (p.His508Asn)
c.1279C>A (p.His427Asn)
c.1312C>A (p.His438Asn)
c.1330C>A (p.His444Asn)
2g.127428896C>GCA348406694PROCc.1336C>G (p.His446Asp)
c.660C>G
c.1438C>G (p.His480Asp)
c.1519C>G (p.His507Asp)
c.1501C>G (p.His501Asp)
c.1399C>G (p.His467Asp)
n.1332-632G>C
c.1579C>G (p.His527Asp)
c.1681C>G (p.His561Asp)
c.1621C>G (p.His541Asp)
n.3607-632G>C
n.4043-632G>C
c.1504C>G (p.His502Asp)
c.1522C>G (p.His508Asp)
c.1279C>G (p.His427Asp)
c.1312C>G (p.His438Asp)
c.1330C>G (p.His444Asp)
2g.127428896C>TCA348406695PROCc.1336C>T (p.His446Tyr)
c.660C>T
c.1438C>T (p.His480Tyr)
c.1519C>T (p.His507Tyr)
c.1501C>T (p.His501Tyr)
c.1399C>T (p.His467Tyr)
n.1332-632G>A
c.1579C>T (p.His527Tyr)
c.1681C>T (p.His561Tyr)
c.1621C>T (p.His541Tyr)
n.3607-632G>A
n.4043-632G>A
c.1504C>T (p.His502Tyr)
c.1522C>T (p.His508Tyr)
c.1279C>T (p.His427Tyr)
c.1312C>T (p.His438Tyr)
c.1330C>T (p.His444Tyr)
2g.127428897A=CA1286884707PROCc.1337A= (p.His446=)
c.661A=
c.1439A= (p.His480=)
c.1520A= (p.His507=)
c.1502A= (p.His501=)
c.1400A= (p.His467=)
n.1332-633T=
c.1580A= (p.His527=)
c.1682A= (p.His561=)
c.1622A= (p.His541=)
n.3607-633T=
n.4043-633T=
c.1505A= (p.His502=)
c.1523A= (p.His508=)
c.1280A= (p.His427=)
c.1313A= (p.His438=)
c.1331A= (p.His444=)
2g.127428897A>CCA348406696PROCc.1337A>C (p.His446Pro)
c.661A>C
c.1439A>C (p.His480Pro)
c.1520A>C (p.His507Pro)
c.1502A>C (p.His501Pro)
c.1400A>C (p.His467Pro)
n.1332-633T>G
c.1580A>C (p.His527Pro)
c.1682A>C (p.His561Pro)
c.1622A>C (p.His541Pro)
n.3607-633T>G
n.4043-633T>G
c.1505A>C (p.His502Pro)
c.1523A>C (p.His508Pro)
c.1280A>C (p.His427Pro)
c.1313A>C (p.His438Pro)
c.1331A>C (p.His444Pro)
2g.127428897A>GCA348406697PROCc.1337A>G (p.His446Arg)
c.661A>G
c.1439A>G (p.His480Arg)
c.1520A>G (p.His507Arg)
c.1502A>G (p.His501Arg)
c.1400A>G (p.His467Arg)
n.1332-633T>C
c.1580A>G (p.His527Arg)
c.1682A>G (p.His561Arg)
c.1622A>G (p.His541Arg)
n.3607-633T>C
n.4043-633T>C
c.1505A>G (p.His502Arg)
c.1523A>G (p.His508Arg)
c.1280A>G (p.His427Arg)
c.1313A>G (p.His438Arg)
c.1331A>G (p.His444Arg)
 dbSNP gnomAD v4
2g.127428897A>TCA348406698PROCc.1337A>T (p.His446Leu)
c.661A>T
c.1439A>T (p.His480Leu)
c.1520A>T (p.His507Leu)
c.1502A>T (p.His501Leu)
c.1400A>T (p.His467Leu)
n.1332-633T>A
c.1580A>T (p.His527Leu)
c.1682A>T (p.His561Leu)
c.1622A>T (p.His541Leu)
n.3607-633T>A
n.4043-633T>A
c.1505A>T (p.His502Leu)
c.1523A>T (p.His508Leu)
c.1280A>T (p.His427Leu)
c.1313A>T (p.His438Leu)
c.1331A>T (p.His444Leu)
2g.127428898T>ACA348406699PROCc.1338T>A (p.His446Gln)
c.662T>A
c.1440T>A (p.His480Gln)
c.1521T>A (p.His507Gln)
c.1503T>A (p.His501Gln)
c.1401T>A (p.His467Gln)
n.1332-634A>T
c.1581T>A (p.His527Gln)
c.1683T>A (p.His561Gln)
c.1623T>A (p.His541Gln)
n.3607-634A>T
n.4043-634A>T
c.1506T>A (p.His502Gln)
c.1524T>A (p.His508Gln)
c.1281T>A (p.His427Gln)
c.1314T>A (p.His438Gln)
c.1332T>A (p.His444Gln)
2g.127428898T>CCA428873296PROCc.1338T>C (p.His446=)
c.662T>C
c.1440T>C (p.His480=)
c.1521T>C (p.His507=)
c.1503T>C (p.His501=)
c.1401T>C (p.His467=)
n.1332-634A>G
c.1581T>C (p.His527=)
c.1683T>C (p.His561=)
c.1623T>C (p.His541=)
n.3607-634A>G
n.4043-634A>G
c.1506T>C (p.His502=)
c.1524T>C (p.His508=)
c.1281T>C (p.His427=)
c.1314T>C (p.His438=)
c.1332T>C (p.His444=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127428898T>GCA348406700PROCc.1338T>G (p.His446Gln)
c.662T>G
c.1440T>G (p.His480Gln)
c.1521T>G (p.His507Gln)
c.1503T>G (p.His501Gln)
c.1401T>G (p.His467Gln)
n.1332-634A>C
c.1581T>G (p.His527Gln)
c.1683T>G (p.His561Gln)
c.1623T>G (p.His541Gln)
n.3607-634A>C
n.4043-634A>C
c.1506T>G (p.His502Gln)
c.1524T>G (p.His508Gln)
c.1281T>G (p.His427Gln)
c.1314T>G (p.His438Gln)
c.1332T>G (p.His444Gln)
2g.127428898T=CA1286884708PROCc.1338T= (p.His446=)
c.662T=
c.1440T= (p.His480=)
c.1521T= (p.His507=)
c.1503T= (p.His501=)
c.1401T= (p.His467=)
n.1332-634A=
c.1581T= (p.His527=)
c.1683T= (p.His561=)
c.1623T= (p.His541=)
n.3607-634A=
n.4043-634A=
c.1506T= (p.His502=)
c.1524T= (p.His508=)
c.1281T= (p.His427=)
c.1314T= (p.His438=)
c.1332T= (p.His444=)
2g.127428899G>ACA348406703PROCc.1339G>A (p.Gly447Arg)
c.663G>A
c.1441G>A (p.Gly481Arg)
c.1522G>A (p.Gly508Arg)
c.1504G>A (p.Gly502Arg)
c.1402G>A (p.Gly468Arg)
n.1332-635C>T
c.1582G>A (p.Gly528Arg)
c.1684G>A (p.Gly562Arg)
c.1624G>A (p.Gly542Arg)
n.3607-635C>T
n.4043-635C>T
c.1507G>A (p.Gly503Arg)
c.1525G>A (p.Gly509Arg)
c.1282G>A (p.Gly428Arg)
c.1315G>A (p.Gly439Arg)
c.1333G>A (p.Gly445Arg)
 COSMIC COSMIC
2g.127428899G>CCA348406701PROCc.1339G>C (p.Gly447Arg)
c.663G>C
c.1441G>C (p.Gly481Arg)
c.1522G>C (p.Gly508Arg)
c.1504G>C (p.Gly502Arg)
c.1402G>C (p.Gly468Arg)
n.1332-635C>G
c.1582G>C (p.Gly528Arg)
c.1684G>C (p.Gly562Arg)
c.1624G>C (p.Gly542Arg)
n.3607-635C>G
n.4043-635C>G
c.1507G>C (p.Gly503Arg)
c.1525G>C (p.Gly509Arg)
c.1282G>C (p.Gly428Arg)
c.1315G>C (p.Gly439Arg)
c.1333G>C (p.Gly445Arg)
2g.127428899G=CA1286884709PROCc.1339G= (p.Gly447=)
c.663G=
c.1441G= (p.Gly481=)
c.1522G= (p.Gly508=)
c.1504G= (p.Gly502=)
c.1402G= (p.Gly468=)
n.1332-635C=
c.1582G= (p.Gly528=)
c.1684G= (p.Gly562=)
c.1624G= (p.Gly542=)
n.3607-635C=
n.4043-635C=
c.1507G= (p.Gly503=)
c.1525G= (p.Gly509=)
c.1282G= (p.Gly428=)
c.1315G= (p.Gly439=)
c.1333G= (p.Gly445=)
2g.127428899G>TCA348406702PROCc.1339G>T (p.Gly447Trp)
c.663G>T
c.1441G>T (p.Gly481Trp)
c.1522G>T (p.Gly508Trp)
c.1504G>T (p.Gly502Trp)
c.1402G>T (p.Gly468Trp)
n.1332-635C>A
c.1582G>T (p.Gly528Trp)
c.1684G>T (p.Gly562Trp)
c.1624G>T (p.Gly542Trp)
n.3607-635C>A
n.4043-635C>A
c.1507G>T (p.Gly503Trp)
c.1525G>T (p.Gly509Trp)
c.1282G>T (p.Gly428Trp)
c.1315G>T (p.Gly439Trp)
c.1333G>T (p.Gly445Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.127428900G>ACA348406704PROCc.1340G>A (p.Gly447Glu)
c.664G>A
c.1442G>A (p.Gly481Glu)
c.1523G>A (p.Gly508Glu)
c.1505G>A (p.Gly502Glu)
c.1403G>A (p.Gly468Glu)
n.1332-636C>T
c.1583G>A (p.Gly528Glu)
c.1685G>A (p.Gly562Glu)
c.1625G>A (p.Gly542Glu)
n.3607-636C>T
n.4043-636C>T
c.1508G>A (p.Gly503Glu)
c.1526G>A (p.Gly509Glu)
c.1283G>A (p.Gly428Glu)
c.1316G>A (p.Gly439Glu)
c.1334G>A (p.Gly445Glu)
 gnomAD v4
2g.127428900G>CCA348406705PROCc.1340G>C (p.Gly447Ala)
c.664G>C
c.1442G>C (p.Gly481Ala)
c.1523G>C (p.Gly508Ala)
c.1505G>C (p.Gly502Ala)
c.1403G>C (p.Gly468Ala)
n.1332-636C>G
c.1583G>C (p.Gly528Ala)
c.1685G>C (p.Gly562Ala)
c.1625G>C (p.Gly542Ala)
n.3607-636C>G
n.4043-636C>G
c.1508G>C (p.Gly503Ala)
c.1526G>C (p.Gly509Ala)
c.1283G>C (p.Gly428Ala)
c.1316G>C (p.Gly439Ala)
c.1334G>C (p.Gly445Ala)
 gnomAD v4
2g.127428900G>TCA348406706PROCc.1340G>T (p.Gly447Val)
c.664G>T
c.1442G>T (p.Gly481Val)
c.1523G>T (p.Gly508Val)
c.1505G>T (p.Gly502Val)
c.1403G>T (p.Gly468Val)
n.1332-636C>A
c.1583G>T (p.Gly528Val)
c.1685G>T (p.Gly562Val)
c.1625G>T (p.Gly542Val)
n.3607-636C>A
n.4043-636C>A
c.1508G>T (p.Gly503Val)
c.1526G>T (p.Gly509Val)
c.1283G>T (p.Gly428Val)
c.1316G>T (p.Gly439Val)
c.1334G>T (p.Gly445Val)
2g.127428901G>ACA428873310PROCc.1341G>A (p.Gly447=)
c.665G>A
c.1443G>A (p.Gly481=)
c.1524G>A (p.Gly508=)
c.1506G>A (p.Gly502=)
c.1404G>A (p.Gly468=)
n.1332-637C>T
c.1584G>A (p.Gly528=)
c.1686G>A (p.Gly562=)
c.1626G>A (p.Gly542=)
n.3607-637C>T
n.4043-637C>T
c.1509G>A (p.Gly503=)
c.1527G>A (p.Gly509=)
c.1284G>A (p.Gly428=)
c.1317G>A (p.Gly439=)
c.1335G>A (p.Gly445=)
 dbSNP gnomAD v2
2g.127428901G>CCA428873313PROCc.1341G>C (p.Gly447=)
c.665G>C
c.1443G>C (p.Gly481=)
c.1524G>C (p.Gly508=)
c.1506G>C (p.Gly502=)
c.1404G>C (p.Gly468=)
n.1332-637C>G
c.1584G>C (p.Gly528=)
c.1686G>C (p.Gly562=)
c.1626G>C (p.Gly542=)
n.3607-637C>G
n.4043-637C>G
c.1509G>C (p.Gly503=)
c.1527G>C (p.Gly509=)
c.1284G>C (p.Gly428=)
c.1317G>C (p.Gly439=)
c.1335G>C (p.Gly445=)
2g.127428901G=CA1286884710PROCc.1341G= (p.Gly447=)
c.665G=
c.1443G= (p.Gly481=)
c.1524G= (p.Gly508=)
c.1506G= (p.Gly502=)
c.1404G= (p.Gly468=)
n.1332-637C=
c.1584G= (p.Gly528=)
c.1686G= (p.Gly562=)
c.1626G= (p.Gly542=)
n.3607-637C=
n.4043-637C=
c.1509G= (p.Gly503=)
c.1527G= (p.Gly509=)
c.1284G= (p.Gly428=)
c.1317G= (p.Gly439=)
c.1335G= (p.Gly445=)
2g.127428901G>TCA428873314PROCc.1341G>T (p.Gly447=)
c.665G>T
c.1443G>T (p.Gly481=)
c.1524G>T (p.Gly508=)
c.1506G>T (p.Gly502=)
c.1404G>T (p.Gly468=)
n.1332-637C>A
c.1584G>T (p.Gly528=)
c.1686G>T (p.Gly562=)
c.1626G>T (p.Gly542=)
n.3607-637C>A
n.4043-637C>A
c.1509G>T (p.Gly503=)
c.1527G>T (p.Gly509=)
c.1284G>T (p.Gly428=)
c.1317G>T (p.Gly439=)
c.1335G>T (p.Gly445=)
2g.127428902C>ACA348406707PROCc.1342C>A (p.His448Asn)
c.666C>A
c.1444C>A (p.His482Asn)
c.1525C>A (p.His509Asn)
c.1507C>A (p.His503Asn)
c.1405C>A (p.His469Asn)
n.1332-638G>T
c.1585C>A (p.His529Asn)
c.1687C>A (p.His563Asn)
c.1627C>A (p.His543Asn)
n.3607-638G>T
n.4043-638G>T
c.1510C>A (p.His504Asn)
c.1528C>A (p.His510Asn)
c.1285C>A (p.His429Asn)
c.1318C>A (p.His440Asn)
c.1336C>A (p.His446Asn)
2g.127428902C=CA1286884711PROCc.1342C= (p.His448=)
c.666C=
c.1444C= (p.His482=)
c.1525C= (p.His509=)
c.1507C= (p.His503=)
c.1405C= (p.His469=)
n.1332-638G=
c.1585C= (p.His529=)
c.1687C= (p.His563=)
c.1627C= (p.His543=)
n.3607-638G=
n.4043-638G=
c.1510C= (p.His504=)
c.1528C= (p.His510=)
c.1285C= (p.His429=)
c.1318C= (p.His440=)
c.1336C= (p.His446=)
2g.127428902C>GCA348406708PROCc.1342C>G (p.His448Asp)
c.666C>G
c.1444C>G (p.His482Asp)
c.1525C>G (p.His509Asp)
c.1507C>G (p.His503Asp)
c.1405C>G (p.His469Asp)
n.1332-638G>C
c.1585C>G (p.His529Asp)
c.1687C>G (p.His563Asp)
c.1627C>G (p.His543Asp)
n.3607-638G>C
n.4043-638G>C
c.1510C>G (p.His504Asp)
c.1528C>G (p.His510Asp)
c.1285C>G (p.His429Asp)
c.1318C>G (p.His440Asp)
c.1336C>G (p.His446Asp)
2g.127428902C>TCA1859570PROCc.1342C>T (p.His448Tyr)
c.666C>T
c.1444C>T (p.His482Tyr)
c.1525C>T (p.His509Tyr)
c.1507C>T (p.His503Tyr)
c.1405C>T (p.His469Tyr)
n.1332-638G>A
c.1585C>T (p.His529Tyr)
c.1687C>T (p.His563Tyr)
c.1627C>T (p.His543Tyr)
n.3607-638G>A
n.4043-638G>A
c.1510C>T (p.His504Tyr)
c.1528C>T (p.His510Tyr)
c.1285C>T (p.His429Tyr)
c.1318C>T (p.His440Tyr)
c.1336C>T (p.His446Tyr)
 dbSNP ExAC gnomAD v2
2g.127428903A>CCA348406709PROCc.1343A>C (p.His448Pro)
c.667A>C
c.1445A>C (p.His482Pro)
c.1526A>C (p.His509Pro)
c.1508A>C (p.His503Pro)
c.1406A>C (p.His469Pro)
n.1332-639T>G
c.1586A>C (p.His529Pro)
c.1688A>C (p.His563Pro)
c.1628A>C (p.His543Pro)
n.3607-639T>G
n.4043-639T>G
c.1511A>C (p.His504Pro)
c.1529A>C (p.His510Pro)
c.1286A>C (p.His429Pro)
c.1319A>C (p.His440Pro)
c.1337A>C (p.His446Pro)
2g.127428903A>GCA348406710PROCc.1343A>G (p.His448Arg)
c.667A>G
c.1445A>G (p.His482Arg)
c.1526A>G (p.His509Arg)
c.1508A>G (p.His503Arg)
c.1406A>G (p.His469Arg)
n.1332-639T>C
c.1586A>G (p.His529Arg)
c.1688A>G (p.His563Arg)
c.1628A>G (p.His543Arg)
n.3607-639T>C
n.4043-639T>C
c.1511A>G (p.His504Arg)
c.1529A>G (p.His510Arg)
c.1286A>G (p.His429Arg)
c.1319A>G (p.His440Arg)
c.1337A>G (p.His446Arg)
2g.127428903A>TCA348406711PROCc.1343A>T (p.His448Leu)
c.667A>T
c.1445A>T (p.His482Leu)
c.1526A>T (p.His509Leu)
c.1508A>T (p.His503Leu)
c.1406A>T (p.His469Leu)
n.1332-639T>A
c.1586A>T (p.His529Leu)
c.1688A>T (p.His563Leu)
c.1628A>T (p.His543Leu)
n.3607-639T>A
n.4043-639T>A
c.1511A>T (p.His504Leu)
c.1529A>T (p.His510Leu)
c.1286A>T (p.His429Leu)
c.1319A>T (p.His440Leu)
c.1337A>T (p.His446Leu)
2g.127428904C>ACA348406712PROCc.1344C>A (p.His448Gln)
c.668C>A
c.1446C>A (p.His482Gln)
c.1527C>A (p.His509Gln)
c.1509C>A (p.His503Gln)
c.1407C>A (p.His469Gln)
n.1332-640G>T
c.1587C>A (p.His529Gln)
c.1689C>A (p.His563Gln)
c.1629C>A (p.His543Gln)
n.3607-640G>T
n.4043-640G>T
c.1512C>A (p.His504Gln)
c.1530C>A (p.His510Gln)
c.1287C>A (p.His429Gln)
c.1320C>A (p.His440Gln)
c.1338C>A (p.His446Gln)
 gnomAD v4
2g.127428904C=CA1286884712PROCc.1344C= (p.His448=)
c.668C=
c.1446C= (p.His482=)
c.1527C= (p.His509=)
c.1509C= (p.His503=)
c.1407C= (p.His469=)
n.1332-640G=
c.1587C= (p.His529=)
c.1689C= (p.His563=)
c.1629C= (p.His543=)
n.3607-640G=
n.4043-640G=
c.1512C= (p.His504=)
c.1530C= (p.His510=)
c.1287C= (p.His429=)
c.1320C= (p.His440=)
c.1338C= (p.His446=)
2g.127428904C>GCA348406713PROCc.1344C>G (p.His448Gln)
c.668C>G
c.1446C>G (p.His482Gln)
c.1527C>G (p.His509Gln)
c.1509C>G (p.His503Gln)
c.1407C>G (p.His469Gln)
n.1332-640G>C
c.1587C>G (p.His529Gln)
c.1689C>G (p.His563Gln)
c.1629C>G (p.His543Gln)
n.3607-640G>C
n.4043-640G>C
c.1512C>G (p.His504Gln)
c.1530C>G (p.His510Gln)
c.1287C>G (p.His429Gln)
c.1320C>G (p.His440Gln)
c.1338C>G (p.His446Gln)
2g.127428904C>TCA55351534PROCc.1344C>T (p.His448=)
c.668C>T
c.1446C>T (p.His482=)
c.1527C>T (p.His509=)
c.1509C>T (p.His503=)
c.1407C>T (p.His469=)
n.1332-640G>A
c.1587C>T (p.His529=)
c.1689C>T (p.His563=)
c.1629C>T (p.His543=)
n.3607-640G>A
n.4043-640G>A
c.1512C>T (p.His504=)
c.1530C>T (p.His510=)
c.1287C>T (p.His429=)
c.1320C>T (p.His440=)
c.1338C>T (p.His446=)
 dbSNP gnomAD v4
2g.127428905A=CA1286884713PROCc.1345A= (p.Ile449=)
c.669A=
c.1447A= (p.Ile483=)
c.1528A= (p.Ile510=)
c.1510A= (p.Ile504=)
c.1408A= (p.Ile470=)
n.1332-641T=
c.1588A= (p.Ile530=)
c.1690A= (p.Ile564=)
c.1630A= (p.Ile544=)
n.3607-641T=
n.4043-641T=
c.1513A= (p.Ile505=)
c.1531A= (p.Ile511=)
c.1288A= (p.Ile430=)
c.1321A= (p.Ile441=)
c.1339A= (p.Ile447=)
2g.127428905A>CCA348406715PROCc.1345A>C (p.Ile449Leu)
c.669A>C
c.1447A>C (p.Ile483Leu)
c.1528A>C (p.Ile510Leu)
c.1510A>C (p.Ile504Leu)
c.1408A>C (p.Ile470Leu)
n.1332-641T>G
c.1588A>C (p.Ile530Leu)
c.1690A>C (p.Ile564Leu)
c.1630A>C (p.Ile544Leu)
n.3607-641T>G
n.4043-641T>G
c.1513A>C (p.Ile505Leu)
c.1531A>C (p.Ile511Leu)
c.1288A>C (p.Ile430Leu)
c.1321A>C (p.Ile441Leu)
c.1339A>C (p.Ile447Leu)
2g.127428905A>GCA1859571PROCc.1345A>G (p.Ile449Val)
c.669A>G
c.1447A>G (p.Ile483Val)
c.1528A>G (p.Ile510Val)
c.1510A>G (p.Ile504Val)
c.1408A>G (p.Ile470Val)
n.1332-641T>C
c.1588A>G (p.Ile530Val)
c.1690A>G (p.Ile564Val)
c.1630A>G (p.Ile544Val)
n.3607-641T>C
n.4043-641T>C
c.1513A>G (p.Ile505Val)
c.1531A>G (p.Ile511Val)
c.1288A>G (p.Ile430Val)
c.1321A>G (p.Ile441Val)
c.1339A>G (p.Ile447Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428905A>TCA348406714PROCc.1345A>T (p.Ile449Phe)
c.669A>T
c.1447A>T (p.Ile483Phe)
c.1528A>T (p.Ile510Phe)
c.1510A>T (p.Ile504Phe)
c.1408A>T (p.Ile470Phe)
n.1332-641T>A
c.1588A>T (p.Ile530Phe)
c.1690A>T (p.Ile564Phe)
c.1630A>T (p.Ile544Phe)
n.3607-641T>A
n.4043-641T>A
c.1513A>T (p.Ile505Phe)
c.1531A>T (p.Ile511Phe)
c.1288A>T (p.Ile430Phe)
c.1321A>T (p.Ile441Phe)
c.1339A>T (p.Ile447Phe)
2g.127428906T>ACA348406718PROCc.1346T>A (p.Ile449Asn)
c.670T>A
c.1448T>A (p.Ile483Asn)
c.1529T>A (p.Ile510Asn)
c.1511T>A (p.Ile504Asn)
c.1409T>A (p.Ile470Asn)
n.1332-642A>T
c.1589T>A (p.Ile530Asn)
c.1691T>A (p.Ile564Asn)
c.1631T>A (p.Ile544Asn)
n.3607-642A>T
n.4043-642A>T
c.1514T>A (p.Ile505Asn)
c.1532T>A (p.Ile511Asn)
c.1289T>A (p.Ile430Asn)
c.1322T>A (p.Ile441Asn)
c.1340T>A (p.Ile447Asn)
2g.127428906T>CCA348406716PROCc.1346T>C (p.Ile449Thr)
c.670T>C
c.1448T>C (p.Ile483Thr)
c.1529T>C (p.Ile510Thr)
c.1511T>C (p.Ile504Thr)
c.1409T>C (p.Ile470Thr)
n.1332-642A>G
c.1589T>C (p.Ile530Thr)
c.1691T>C (p.Ile564Thr)
c.1631T>C (p.Ile544Thr)
n.3607-642A>G
n.4043-642A>G
c.1514T>C (p.Ile505Thr)
c.1532T>C (p.Ile511Thr)
c.1289T>C (p.Ile430Thr)
c.1322T>C (p.Ile441Thr)
c.1340T>C (p.Ile447Thr)
2g.127428906T>GCA348406717PROCc.1346T>G (p.Ile449Ser)
c.670T>G
c.1448T>G (p.Ile483Ser)
c.1529T>G (p.Ile510Ser)
c.1511T>G (p.Ile504Ser)
c.1409T>G (p.Ile470Ser)
n.1332-642A>C
c.1589T>G (p.Ile530Ser)
c.1691T>G (p.Ile564Ser)
c.1631T>G (p.Ile544Ser)
n.3607-642A>C
n.4043-642A>C
c.1514T>G (p.Ile505Ser)
c.1532T>G (p.Ile511Ser)
c.1289T>G (p.Ile430Ser)
c.1322T>G (p.Ile441Ser)
c.1340T>G (p.Ile447Ser)
2g.127428907C>ACA428873364PROCc.1347C>A (p.Ile449=)
c.671C>A
c.1449C>A (p.Ile483=)
c.1530C>A (p.Ile510=)
c.1512C>A (p.Ile504=)
c.1410C>A (p.Ile470=)
n.1332-643G>T
c.1590C>A (p.Ile530=)
c.1692C>A (p.Ile564=)
c.1632C>A (p.Ile544=)
n.3607-643G>T
n.4043-643G>T
c.1515C>A (p.Ile505=)
c.1533C>A (p.Ile511=)
c.1290C>A (p.Ile430=)
c.1323C>A (p.Ile441=)
c.1341C>A (p.Ile447=)
2g.127428907C>GCA348406719PROCc.1347C>G (p.Ile449Met)
c.671C>G
c.1449C>G (p.Ile483Met)
c.1530C>G (p.Ile510Met)
c.1512C>G (p.Ile504Met)
c.1410C>G (p.Ile470Met)
n.1332-643G>C
c.1590C>G (p.Ile530Met)
c.1692C>G (p.Ile564Met)
c.1632C>G (p.Ile544Met)
n.3607-643G>C
n.4043-643G>C
c.1515C>G (p.Ile505Met)
c.1533C>G (p.Ile511Met)
c.1290C>G (p.Ile430Met)
c.1323C>G (p.Ile441Met)
c.1341C>G (p.Ile447Met)
2g.127428907C>TCA428873370PROCc.1347C>T (p.Ile449=)
c.671C>T
c.1449C>T (p.Ile483=)
c.1530C>T (p.Ile510=)
c.1512C>T (p.Ile504=)
c.1410C>T (p.Ile470=)
n.1332-643G>A
c.1590C>T (p.Ile530=)
c.1692C>T (p.Ile564=)
c.1632C>T (p.Ile544=)
n.3607-643G>A
n.4043-643G>A
c.1515C>T (p.Ile505=)
c.1533C>T (p.Ile511=)
c.1290C>T (p.Ile430=)
c.1323C>T (p.Ile441=)
c.1341C>T (p.Ile447=)
 gnomAD v4
2g.127428908A>CCA428873378PROCc.1348A>C (p.Arg450=)
c.672A>C
c.1450A>C (p.Arg484=)
c.1531A>C (p.Arg511=)
c.1513A>C (p.Arg505=)
c.1411A>C (p.Arg471=)
n.1332-644T>G
c.1591A>C (p.Arg531=)
c.1693A>C (p.Arg565=)
c.1633A>C (p.Arg545=)
n.3607-644T>G
n.4043-644T>G
c.1516A>C (p.Arg506=)
c.1534A>C (p.Arg512=)
c.1291A>C (p.Arg431=)
c.1324A>C (p.Arg442=)
c.1342A>C (p.Arg448=)
2g.127428908A>GCA348406720PROCc.1348A>G (p.Arg450Gly)
c.672A>G
c.1450A>G (p.Arg484Gly)
c.1531A>G (p.Arg511Gly)
c.1513A>G (p.Arg505Gly)
c.1411A>G (p.Arg471Gly)
n.1332-644T>C
c.1591A>G (p.Arg531Gly)
c.1693A>G (p.Arg565Gly)
c.1633A>G (p.Arg545Gly)
n.3607-644T>C
n.4043-644T>C
c.1516A>G (p.Arg506Gly)
c.1534A>G (p.Arg512Gly)
c.1291A>G (p.Arg431Gly)
c.1324A>G (p.Arg442Gly)
c.1342A>G (p.Arg448Gly)
2g.127428908A>TCA348406721PROCc.1348A>T (p.Arg450Ter)
c.672A>T
c.1450A>T (p.Arg484Ter)
c.1531A>T (p.Arg511Ter)
c.1513A>T (p.Arg505Ter)
c.1411A>T (p.Arg471Ter)
n.1332-644T>A
c.1591A>T (p.Arg531Ter)
c.1693A>T (p.Arg565Ter)
c.1633A>T (p.Arg545Ter)
n.3607-644T>A
n.4043-644T>A
c.1516A>T (p.Arg506Ter)
c.1534A>T (p.Arg512Ter)
c.1291A>T (p.Arg431Ter)
c.1324A>T (p.Arg442Ter)
c.1342A>T (p.Arg448Ter)
2g.127428909G>ACA348406722PROCc.1349G>A (p.Arg450Lys)
c.673G>A
c.1451G>A (p.Arg484Lys)
c.1532G>A (p.Arg511Lys)
c.1514G>A (p.Arg505Lys)
c.1412G>A (p.Arg471Lys)
n.1332-645C>T
c.1592G>A (p.Arg531Lys)
c.1694G>A (p.Arg565Lys)
c.1634G>A (p.Arg545Lys)
n.3607-645C>T
n.4043-645C>T
c.1517G>A (p.Arg506Lys)
c.1535G>A (p.Arg512Lys)
c.1292G>A (p.Arg431Lys)
c.1325G>A (p.Arg442Lys)
c.1343G>A (p.Arg448Lys)
2g.127428909G>CCA348406723PROCc.1349G>C (p.Arg450Thr)
c.673G>C
c.1451G>C (p.Arg484Thr)
c.1532G>C (p.Arg511Thr)
c.1514G>C (p.Arg505Thr)
c.1412G>C (p.Arg471Thr)
n.1332-645C>G
c.1592G>C (p.Arg531Thr)
c.1694G>C (p.Arg565Thr)
c.1634G>C (p.Arg545Thr)
n.3607-645C>G
n.4043-645C>G
c.1517G>C (p.Arg506Thr)
c.1535G>C (p.Arg512Thr)
c.1292G>C (p.Arg431Thr)
c.1325G>C (p.Arg442Thr)
c.1343G>C (p.Arg448Thr)
2g.127428909G>TCA348406724PROCc.1349G>T (p.Arg450Ile)
c.673G>T
c.1451G>T (p.Arg484Ile)
c.1532G>T (p.Arg511Ile)
c.1514G>T (p.Arg505Ile)
c.1412G>T (p.Arg471Ile)
n.1332-645C>A
c.1592G>T (p.Arg531Ile)
c.1694G>T (p.Arg565Ile)
c.1634G>T (p.Arg545Ile)
n.3607-645C>A
n.4043-645C>A
c.1517G>T (p.Arg506Ile)
c.1535G>T (p.Arg512Ile)
c.1292G>T (p.Arg431Ile)
c.1325G>T (p.Arg442Ile)
c.1343G>T (p.Arg448Ile)
2g.127428910A>CCA348406725PROCc.1350A>C (p.Arg450Ser)
c.674A>C
c.1452A>C (p.Arg484Ser)
c.1533A>C (p.Arg511Ser)
c.1515A>C (p.Arg505Ser)
c.1413A>C (p.Arg471Ser)
n.1332-646T>G
c.1593A>C (p.Arg531Ser)
c.1695A>C (p.Arg565Ser)
c.1635A>C (p.Arg545Ser)
n.3607-646T>G
n.4043-646T>G
c.1518A>C (p.Arg506Ser)
c.1536A>C (p.Arg512Ser)
c.1293A>C (p.Arg431Ser)
c.1326A>C (p.Arg442Ser)
c.1344A>C (p.Arg448Ser)
2g.127428910A>GCA428873403PROCc.1350A>G (p.Arg450=)
c.674A>G
c.1452A>G (p.Arg484=)
c.1533A>G (p.Arg511=)
c.1515A>G (p.Arg505=)
c.1413A>G (p.Arg471=)
n.1332-646T>C
c.1593A>G (p.Arg531=)
c.1695A>G (p.Arg565=)
c.1635A>G (p.Arg545=)
n.3607-646T>C
n.4043-646T>C
c.1518A>G (p.Arg506=)
c.1536A>G (p.Arg512=)
c.1293A>G (p.Arg431=)
c.1326A>G (p.Arg442=)
c.1344A>G (p.Arg448=)
2g.127428910A>TCA348406726PROCc.1350A>T (p.Arg450Ser)
c.674A>T
c.1452A>T (p.Arg484Ser)
c.1533A>T (p.Arg511Ser)
c.1515A>T (p.Arg505Ser)
c.1413A>T (p.Arg471Ser)
n.1332-646T>A
c.1593A>T (p.Arg531Ser)
c.1695A>T (p.Arg565Ser)
c.1635A>T (p.Arg545Ser)
n.3607-646T>A
n.4043-646T>A
c.1518A>T (p.Arg506Ser)
c.1536A>T (p.Arg512Ser)
c.1293A>T (p.Arg431Ser)
c.1326A>T (p.Arg442Ser)
c.1344A>T (p.Arg448Ser)
2g.127428911G>ACA348406727PROCc.1351G>A (p.Asp451Asn)
c.675G>A
c.1453G>A (p.Asp485Asn)
c.1534G>A (p.Asp512Asn)
c.1516G>A (p.Asp506Asn)
c.1414G>A (p.Asp472Asn)
n.1332-647C>T
c.1594G>A (p.Asp532Asn)
c.1696G>A (p.Asp566Asn)
c.1636G>A (p.Asp546Asn)
n.3607-647C>T
n.4043-647C>T
c.1519G>A (p.Asp507Asn)
c.1537G>A (p.Asp513Asn)
c.1294G>A (p.Asp432Asn)
c.1327G>A (p.Asp443Asn)
c.1345G>A (p.Asp449Asn)
2g.127428911G>CCA348406728PROCc.1351G>C (p.Asp451His)
c.675G>C
c.1453G>C (p.Asp485His)
c.1534G>C (p.Asp512His)
c.1516G>C (p.Asp506His)
c.1414G>C (p.Asp472His)
n.1332-647C>G
c.1594G>C (p.Asp532His)
c.1696G>C (p.Asp566His)
c.1636G>C (p.Asp546His)
n.3607-647C>G
n.4043-647C>G
c.1519G>C (p.Asp507His)
c.1537G>C (p.Asp513His)
c.1294G>C (p.Asp432His)
c.1327G>C (p.Asp443His)
c.1345G>C (p.Asp449His)
2g.127428911G>TCA348406729PROCc.1351G>T (p.Asp451Tyr)
c.675G>T
c.1453G>T (p.Asp485Tyr)
c.1534G>T (p.Asp512Tyr)
c.1516G>T (p.Asp506Tyr)
c.1414G>T (p.Asp472Tyr)
n.1332-647C>A
c.1594G>T (p.Asp532Tyr)
c.1696G>T (p.Asp566Tyr)
c.1636G>T (p.Asp546Tyr)
n.3607-647C>A
n.4043-647C>A
c.1519G>T (p.Asp507Tyr)
c.1537G>T (p.Asp513Tyr)
c.1294G>T (p.Asp432Tyr)
c.1327G>T (p.Asp443Tyr)
c.1345G>T (p.Asp449Tyr)
2g.127428912A>CCA348406732PROCc.1352A>C (p.Asp451Ala)
c.676A>C
c.1454A>C (p.Asp485Ala)
c.1535A>C (p.Asp512Ala)
c.1517A>C (p.Asp506Ala)
c.1415A>C (p.Asp472Ala)
n.1332-648T>G
c.1595A>C (p.Asp532Ala)
c.1697A>C (p.Asp566Ala)
c.1637A>C (p.Asp546Ala)
n.3607-648T>G
n.4043-648T>G
c.1520A>C (p.Asp507Ala)
c.1538A>C (p.Asp513Ala)
c.1295A>C (p.Asp432Ala)
c.1328A>C (p.Asp443Ala)
c.1346A>C (p.Asp449Ala)
2g.127428912A>GCA348406731PROCc.1352A>G (p.Asp451Gly)
c.676A>G
c.1454A>G (p.Asp485Gly)
c.1535A>G (p.Asp512Gly)
c.1517A>G (p.Asp506Gly)
c.1415A>G (p.Asp472Gly)
n.1332-648T>C
c.1595A>G (p.Asp532Gly)
c.1697A>G (p.Asp566Gly)
c.1637A>G (p.Asp546Gly)
n.3607-648T>C
n.4043-648T>C
c.1520A>G (p.Asp507Gly)
c.1538A>G (p.Asp513Gly)
c.1295A>G (p.Asp432Gly)
c.1328A>G (p.Asp443Gly)
c.1346A>G (p.Asp449Gly)
2g.127428912A>TCA348406730PROCc.1352A>T (p.Asp451Val)
c.676A>T
c.1454A>T (p.Asp485Val)
c.1535A>T (p.Asp512Val)
c.1517A>T (p.Asp506Val)
c.1415A>T (p.Asp472Val)
n.1332-648T>A
c.1595A>T (p.Asp532Val)
c.1697A>T (p.Asp566Val)
c.1637A>T (p.Asp546Val)
n.3607-648T>A
n.4043-648T>A
c.1520A>T (p.Asp507Val)
c.1538A>T (p.Asp513Val)
c.1295A>T (p.Asp432Val)
c.1328A>T (p.Asp443Val)
c.1346A>T (p.Asp449Val)
2g.127428913C>ACA348406733PROCc.1353C>A (p.Asp451Glu)
c.677C>A
c.1455C>A (p.Asp485Glu)
c.1536C>A (p.Asp512Glu)
c.1518C>A (p.Asp506Glu)
c.1416C>A (p.Asp472Glu)
n.1332-649G>T
c.1596C>A (p.Asp532Glu)
c.1698C>A (p.Asp566Glu)
c.1638C>A (p.Asp546Glu)
n.3607-649G>T
n.4043-649G>T
c.1521C>A (p.Asp507Glu)
c.1539C>A (p.Asp513Glu)
c.1296C>A (p.Asp432Glu)
c.1329C>A (p.Asp443Glu)
c.1347C>A (p.Asp449Glu)
 gnomAD v4
2g.127428913C>GCA348406734PROCc.1353C>G (p.Asp451Glu)
c.677C>G
c.1455C>G (p.Asp485Glu)
c.1536C>G (p.Asp512Glu)
c.1518C>G (p.Asp506Glu)
c.1416C>G (p.Asp472Glu)
n.1332-649G>C
c.1596C>G (p.Asp532Glu)
c.1698C>G (p.Asp566Glu)
c.1638C>G (p.Asp546Glu)
n.3607-649G>C
n.4043-649G>C
c.1521C>G (p.Asp507Glu)
c.1539C>G (p.Asp513Glu)
c.1296C>G (p.Asp432Glu)
c.1329C>G (p.Asp443Glu)
c.1347C>G (p.Asp449Glu)
2g.127428913C>TCA428873438PROCc.1353C>T (p.Asp451=)
c.677C>T
c.1455C>T (p.Asp485=)
c.1536C>T (p.Asp512=)
c.1518C>T (p.Asp506=)
c.1416C>T (p.Asp472=)
n.1332-649G>A
c.1596C>T (p.Asp532=)
c.1698C>T (p.Asp566=)
c.1638C>T (p.Asp546=)
n.3607-649G>A
n.4043-649G>A
c.1521C>T (p.Asp507=)
c.1539C>T (p.Asp513=)
c.1296C>T (p.Asp432=)
c.1329C>T (p.Asp443=)
c.1347C>T (p.Asp449=)
2g.127428914A=CA1286884714PROCc.1354A= (p.Lys452=)
c.678A=
c.1456A= (p.Lys486=)
c.1537A= (p.Lys513=)
c.1519A= (p.Lys507=)
c.1417A= (p.Lys473=)
n.1332-650T=
c.1597A= (p.Lys533=)
c.1699A= (p.Lys567=)
c.1639A= (p.Lys547=)
n.3607-650T=
n.4043-650T=
c.1522A= (p.Lys508=)
c.1540A= (p.Lys514=)
c.1297A= (p.Lys433=)
c.1330A= (p.Lys444=)
c.1348A= (p.Lys450=)
2g.127428914A>CCA348406735PROCc.1354A>C (p.Lys452Gln)
c.678A>C
c.1456A>C (p.Lys486Gln)
c.1537A>C (p.Lys513Gln)
c.1519A>C (p.Lys507Gln)
c.1417A>C (p.Lys473Gln)
n.1332-650T>G
c.1597A>C (p.Lys533Gln)
c.1699A>C (p.Lys567Gln)
c.1639A>C (p.Lys547Gln)
n.3607-650T>G
n.4043-650T>G
c.1522A>C (p.Lys508Gln)
c.1540A>C (p.Lys514Gln)
c.1297A>C (p.Lys433Gln)
c.1330A>C (p.Lys444Gln)
c.1348A>C (p.Lys450Gln)
 gnomAD v4
2g.127428914A>GCA1859572PROCc.1354A>G (p.Lys452Glu)
c.678A>G
c.1456A>G (p.Lys486Glu)
c.1537A>G (p.Lys513Glu)
c.1519A>G (p.Lys507Glu)
c.1417A>G (p.Lys473Glu)
n.1332-650T>C
c.1597A>G (p.Lys533Glu)
c.1699A>G (p.Lys567Glu)
c.1639A>G (p.Lys547Glu)
n.3607-650T>C
n.4043-650T>C
c.1522A>G (p.Lys508Glu)
c.1540A>G (p.Lys514Glu)
c.1297A>G (p.Lys433Glu)
c.1330A>G (p.Lys444Glu)
c.1348A>G (p.Lys450Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428914A>TCA348406736PROCc.1354A>T (p.Lys452Ter)
c.678A>T
c.1456A>T (p.Lys486Ter)
c.1537A>T (p.Lys513Ter)
c.1519A>T (p.Lys507Ter)
c.1417A>T (p.Lys473Ter)
n.1332-650T>A
c.1597A>T (p.Lys533Ter)
c.1699A>T (p.Lys567Ter)
c.1639A>T (p.Lys547Ter)
n.3607-650T>A
n.4043-650T>A
c.1522A>T (p.Lys508Ter)
c.1540A>T (p.Lys514Ter)
c.1297A>T (p.Lys433Ter)
c.1330A>T (p.Lys444Ter)
c.1348A>T (p.Lys450Ter)
2g.127428915A>CCA348406737PROCc.1355A>C (p.Lys452Thr)
c.679A>C
c.1457A>C (p.Lys486Thr)
c.1538A>C (p.Lys513Thr)
c.1520A>C (p.Lys507Thr)
c.1418A>C (p.Lys473Thr)
n.1332-651T>G
c.1598A>C (p.Lys533Thr)
c.1700A>C (p.Lys567Thr)
c.1640A>C (p.Lys547Thr)
n.3607-651T>G
n.4043-651T>G
c.1523A>C (p.Lys508Thr)
c.1541A>C (p.Lys514Thr)
c.1298A>C (p.Lys433Thr)
c.1331A>C (p.Lys444Thr)
c.1349A>C (p.Lys450Thr)
2g.127428915A>GCA348406738PROCc.1355A>G (p.Lys452Arg)
c.679A>G
c.1457A>G (p.Lys486Arg)
c.1538A>G (p.Lys513Arg)
c.1520A>G (p.Lys507Arg)
c.1418A>G (p.Lys473Arg)
n.1332-651T>C
c.1598A>G (p.Lys533Arg)
c.1700A>G (p.Lys567Arg)
c.1640A>G (p.Lys547Arg)
n.3607-651T>C
n.4043-651T>C
c.1523A>G (p.Lys508Arg)
c.1541A>G (p.Lys514Arg)
c.1298A>G (p.Lys433Arg)
c.1331A>G (p.Lys444Arg)
c.1349A>G (p.Lys450Arg)
2g.127428915A>TCA348406739PROCc.1355A>T (p.Lys452Met)
c.679A>T
c.1457A>T (p.Lys486Met)
c.1538A>T (p.Lys513Met)
c.1520A>T (p.Lys507Met)
c.1418A>T (p.Lys473Met)
n.1332-651T>A
c.1598A>T (p.Lys533Met)
c.1700A>T (p.Lys567Met)
c.1640A>T (p.Lys547Met)
n.3607-651T>A
n.4043-651T>A
c.1523A>T (p.Lys508Met)
c.1541A>T (p.Lys514Met)
c.1298A>T (p.Lys433Met)
c.1331A>T (p.Lys444Met)
c.1349A>T (p.Lys450Met)
2g.127428916G>ACA1859573PROCc.1356G>A (p.Lys452=)
c.680G>A
c.1458G>A (p.Lys486=)
c.1539G>A (p.Lys513=)
c.1521G>A (p.Lys507=)
c.1419G>A (p.Lys473=)
n.1332-652C>T
c.1599G>A (p.Lys533=)
c.1701G>A (p.Lys567=)
c.1641G>A (p.Lys547=)
n.3607-652C>T
n.4043-652C>T
c.1524G>A (p.Lys508=)
c.1542G>A (p.Lys514=)
c.1299G>A (p.Lys433=)
c.1332G>A (p.Lys444=)
c.1350G>A (p.Lys450=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428916G>CCA348406740PROCc.1356G>C (p.Lys452Asn)
c.680G>C
c.1458G>C (p.Lys486Asn)
c.1539G>C (p.Lys513Asn)
c.1521G>C (p.Lys507Asn)
c.1419G>C (p.Lys473Asn)
n.1332-652C>G
c.1599G>C (p.Lys533Asn)
c.1701G>C (p.Lys567Asn)
c.1641G>C (p.Lys547Asn)
n.3607-652C>G
n.4043-652C>G
c.1524G>C (p.Lys508Asn)
c.1542G>C (p.Lys514Asn)
c.1299G>C (p.Lys433Asn)
c.1332G>C (p.Lys444Asn)
c.1350G>C (p.Lys450Asn)
2g.127428916G=CA1286884715PROCc.1356G= (p.Lys452=)
c.680G=
c.1458G= (p.Lys486=)
c.1539G= (p.Lys513=)
c.1521G= (p.Lys507=)
c.1419G= (p.Lys473=)
n.1332-652C=
c.1599G= (p.Lys533=)
c.1701G= (p.Lys567=)
c.1641G= (p.Lys547=)
n.3607-652C=
n.4043-652C=
c.1524G= (p.Lys508=)
c.1542G= (p.Lys514=)
c.1299G= (p.Lys433=)
c.1332G= (p.Lys444=)
c.1350G= (p.Lys450=)
2g.127428916G>TCA348406741PROCc.1356G>T (p.Lys452Asn)
c.680G>T
c.1458G>T (p.Lys486Asn)
c.1539G>T (p.Lys513Asn)
c.1521G>T (p.Lys507Asn)
c.1419G>T (p.Lys473Asn)
n.1332-652C>A
c.1599G>T (p.Lys533Asn)
c.1701G>T (p.Lys567Asn)
c.1641G>T (p.Lys547Asn)
n.3607-652C>A
n.4043-652C>A
c.1524G>T (p.Lys508Asn)
c.1542G>T (p.Lys514Asn)
c.1299G>T (p.Lys433Asn)
c.1332G>T (p.Lys444Asn)
c.1350G>T (p.Lys450Asn)
2g.127428917G>ACA348406742PROCc.1357G>A (p.Glu453Lys)
c.681G>A
c.1459G>A (p.Glu487Lys)
c.1540G>A (p.Glu514Lys)
c.1522G>A (p.Glu508Lys)
c.1420G>A (p.Glu474Lys)
n.1332-653C>T
c.1600G>A (p.Glu534Lys)
c.1702G>A (p.Glu568Lys)
c.1642G>A (p.Glu548Lys)
n.3607-653C>T
n.4043-653C>T
c.1525G>A (p.Glu509Lys)
c.1543G>A (p.Glu515Lys)
c.1300G>A (p.Glu434Lys)
c.1333G>A (p.Glu445Lys)
c.1351G>A (p.Glu451Lys)
2g.127428917G>CCA348406743PROCc.1357G>C (p.Glu453Gln)
c.681G>C
c.1459G>C (p.Glu487Gln)
c.1540G>C (p.Glu514Gln)
c.1522G>C (p.Glu508Gln)
c.1420G>C (p.Glu474Gln)
n.1332-653C>G
c.1600G>C (p.Glu534Gln)
c.1702G>C (p.Glu568Gln)
c.1642G>C (p.Glu548Gln)
n.3607-653C>G
n.4043-653C>G
c.1525G>C (p.Glu509Gln)
c.1543G>C (p.Glu515Gln)
c.1300G>C (p.Glu434Gln)
c.1333G>C (p.Glu445Gln)
c.1351G>C (p.Glu451Gln)
2g.127428917G>TCA348406744PROCc.1357G>T (p.Glu453Ter)
c.681G>T
c.1459G>T (p.Glu487Ter)
c.1540G>T (p.Glu514Ter)
c.1522G>T (p.Glu508Ter)
c.1420G>T (p.Glu474Ter)
n.1332-653C>A
c.1600G>T (p.Glu534Ter)
c.1702G>T (p.Glu568Ter)
c.1642G>T (p.Glu548Ter)
n.3607-653C>A
n.4043-653C>A
c.1525G>T (p.Glu509Ter)
c.1543G>T (p.Glu515Ter)
c.1300G>T (p.Glu434Ter)
c.1333G>T (p.Glu445Ter)
c.1351G>T (p.Glu451Ter)
2g.127428918A>CCA348406746PROCc.1358A>C (p.Glu453Ala)
c.682A>C
c.1460A>C (p.Glu487Ala)
c.1541A>C (p.Glu514Ala)
c.1523A>C (p.Glu508Ala)
c.1421A>C (p.Glu474Ala)
n.1332-654T>G
c.1601A>C (p.Glu534Ala)
c.1703A>C (p.Glu568Ala)
c.1643A>C (p.Glu548Ala)
n.3607-654T>G
n.4043-654T>G
c.1526A>C (p.Glu509Ala)
c.1544A>C (p.Glu515Ala)
c.1301A>C (p.Glu434Ala)
c.1334A>C (p.Glu445Ala)
c.1352A>C (p.Glu451Ala)
2g.127428918A>GCA348406747PROCc.1358A>G (p.Glu453Gly)
c.682A>G
c.1460A>G (p.Glu487Gly)
c.1541A>G (p.Glu514Gly)
c.1523A>G (p.Glu508Gly)
c.1421A>G (p.Glu474Gly)
n.1332-654T>C
c.1601A>G (p.Glu534Gly)
c.1703A>G (p.Glu568Gly)
c.1643A>G (p.Glu548Gly)
n.3607-654T>C
n.4043-654T>C
c.1526A>G (p.Glu509Gly)
c.1544A>G (p.Glu515Gly)
c.1301A>G (p.Glu434Gly)
c.1334A>G (p.Glu445Gly)
c.1352A>G (p.Glu451Gly)
 gnomAD v4
2g.127428918A>TCA348406745PROCc.1358A>T (p.Glu453Val)
c.682A>T
c.1460A>T (p.Glu487Val)
c.1541A>T (p.Glu514Val)
c.1523A>T (p.Glu508Val)
c.1421A>T (p.Glu474Val)
n.1332-654T>A
c.1601A>T (p.Glu534Val)
c.1703A>T (p.Glu568Val)
c.1643A>T (p.Glu548Val)
n.3607-654T>A
n.4043-654T>A
c.1526A>T (p.Glu509Val)
c.1544A>T (p.Glu515Val)
c.1301A>T (p.Glu434Val)
c.1334A>T (p.Glu445Val)
c.1352A>T (p.Glu451Val)
 gnomAD v4
2g.127428919A=CA1286884716PROCc.1359A= (p.Glu453=)
c.683A=
c.1461A= (p.Glu487=)
c.1542A= (p.Glu514=)
c.1524A= (p.Glu508=)
c.1422A= (p.Glu474=)
n.1332-655T=
c.1602A= (p.Glu534=)
c.1704A= (p.Glu568=)
c.1644A= (p.Glu548=)
n.3607-655T=
n.4043-655T=
c.1527A= (p.Glu509=)
c.1545A= (p.Glu515=)
c.1302A= (p.Glu434=)
c.1335A= (p.Glu445=)
c.1353A= (p.Glu451=)
2g.127428919A>CCA348406748PROCc.1359A>C (p.Glu453Asp)
c.683A>C
c.1461A>C (p.Glu487Asp)
c.1542A>C (p.Glu514Asp)
c.1524A>C (p.Glu508Asp)
c.1422A>C (p.Glu474Asp)
n.1332-655T>G
c.1602A>C (p.Glu534Asp)
c.1704A>C (p.Glu568Asp)
c.1644A>C (p.Glu548Asp)
n.3607-655T>G
n.4043-655T>G
c.1527A>C (p.Glu509Asp)
c.1545A>C (p.Glu515Asp)
c.1302A>C (p.Glu434Asp)
c.1335A>C (p.Glu445Asp)
c.1353A>C (p.Glu451Asp)
2g.127428919A>GCA1859574PROCc.1359A>G (p.Glu453=)
c.683A>G
c.1461A>G (p.Glu487=)
c.1542A>G (p.Glu514=)
c.1524A>G (p.Glu508=)
c.1422A>G (p.Glu474=)
n.1332-655T>C
c.1602A>G (p.Glu534=)
c.1704A>G (p.Glu568=)
c.1644A>G (p.Glu548=)
n.3607-655T>C
n.4043-655T>C
c.1527A>G (p.Glu509=)
c.1545A>G (p.Glu515=)
c.1302A>G (p.Glu434=)
c.1335A>G (p.Glu445=)
c.1353A>G (p.Glu451=)
 dbSNP ExAC gnomAD v2
2g.127428919A>TCA348406749PROCc.1359A>T (p.Glu453Asp)
c.683A>T
c.1461A>T (p.Glu487Asp)
c.1542A>T (p.Glu514Asp)
c.1524A>T (p.Glu508Asp)
c.1422A>T (p.Glu474Asp)
n.1332-655T>A
c.1602A>T (p.Glu534Asp)
c.1704A>T (p.Glu568Asp)
c.1644A>T (p.Glu548Asp)
n.3607-655T>A
n.4043-655T>A
c.1527A>T (p.Glu509Asp)
c.1545A>T (p.Glu515Asp)
c.1302A>T (p.Glu434Asp)
c.1335A>T (p.Glu445Asp)
c.1353A>T (p.Glu451Asp)
2g.127428920G>ACA348406750PROCc.1360G>A (p.Ala454Thr)
c.684G>A
c.1462G>A (p.Ala488Thr)
c.1543G>A (p.Ala515Thr)
c.1525G>A (p.Ala509Thr)
c.1423G>A (p.Ala475Thr)
n.1332-656C>T
c.1603G>A (p.Ala535Thr)
c.1705G>A (p.Ala569Thr)
c.1645G>A (p.Ala549Thr)
n.3607-656C>T
n.4043-656C>T
c.1528G>A (p.Ala510Thr)
c.1546G>A (p.Ala516Thr)
c.1303G>A (p.Ala435Thr)
c.1336G>A (p.Ala446Thr)
c.1354G>A (p.Ala452Thr)
 COSMIC
2g.127428920G>CCA348406751PROCc.1360G>C (p.Ala454Pro)
c.684G>C
c.1462G>C (p.Ala488Pro)
c.1543G>C (p.Ala515Pro)
c.1525G>C (p.Ala509Pro)
c.1423G>C (p.Ala475Pro)
n.1332-656C>G
c.1603G>C (p.Ala535Pro)
c.1705G>C (p.Ala569Pro)
c.1645G>C (p.Ala549Pro)
n.3607-656C>G
n.4043-656C>G
c.1528G>C (p.Ala510Pro)
c.1546G>C (p.Ala516Pro)
c.1303G>C (p.Ala435Pro)
c.1336G>C (p.Ala446Pro)
c.1354G>C (p.Ala452Pro)
2g.127428920G>TCA348406752PROCc.1360G>T (p.Ala454Ser)
c.684G>T
c.1462G>T (p.Ala488Ser)
c.1543G>T (p.Ala515Ser)
c.1525G>T (p.Ala509Ser)
c.1423G>T (p.Ala475Ser)
n.1332-656C>A
c.1603G>T (p.Ala535Ser)
c.1705G>T (p.Ala569Ser)
c.1645G>T (p.Ala549Ser)
n.3607-656C>A
n.4043-656C>A
c.1528G>T (p.Ala510Ser)
c.1546G>T (p.Ala516Ser)
c.1303G>T (p.Ala435Ser)
c.1336G>T (p.Ala446Ser)
c.1354G>T (p.Ala452Ser)
2g.127428921C>ACA348406753PROCc.1361C>A (p.Ala454Asp)
c.685C>A
c.1463C>A (p.Ala488Asp)
c.1544C>A (p.Ala515Asp)
c.1526C>A (p.Ala509Asp)
c.1424C>A (p.Ala475Asp)
n.1332-657G>T
c.1604C>A (p.Ala535Asp)
c.1706C>A (p.Ala569Asp)
c.1646C>A (p.Ala549Asp)
n.3607-657G>T
n.4043-657G>T
c.1529C>A (p.Ala510Asp)
c.1547C>A (p.Ala516Asp)
c.1304C>A (p.Ala435Asp)
c.1337C>A (p.Ala446Asp)
c.1355C>A (p.Ala452Asp)
2g.127428921C=CA1286884717PROCc.1361C= (p.Ala454=)
c.685C=
c.1463C= (p.Ala488=)
c.1544C= (p.Ala515=)
c.1526C= (p.Ala509=)
c.1424C= (p.Ala475=)
n.1332-657G=
c.1604C= (p.Ala535=)
c.1706C= (p.Ala569=)
c.1646C= (p.Ala549=)
n.3607-657G=
n.4043-657G=
c.1529C= (p.Ala510=)
c.1547C= (p.Ala516=)
c.1304C= (p.Ala435=)
c.1337C= (p.Ala446=)
c.1355C= (p.Ala452=)
2g.127428921C>GCA348406754PROCc.1361C>G (p.Ala454Gly)
c.685C>G
c.1463C>G (p.Ala488Gly)
c.1544C>G (p.Ala515Gly)
c.1526C>G (p.Ala509Gly)
c.1424C>G (p.Ala475Gly)
n.1332-657G>C
c.1604C>G (p.Ala535Gly)
c.1706C>G (p.Ala569Gly)
c.1646C>G (p.Ala549Gly)
n.3607-657G>C
n.4043-657G>C
c.1529C>G (p.Ala510Gly)
c.1547C>G (p.Ala516Gly)
c.1304C>G (p.Ala435Gly)
c.1337C>G (p.Ala446Gly)
c.1355C>G (p.Ala452Gly)
2g.127428921C>TCA348406755PROCc.1361C>T (p.Ala454Val)
c.685C>T
c.1463C>T (p.Ala488Val)
c.1544C>T (p.Ala515Val)
c.1526C>T (p.Ala509Val)
c.1424C>T (p.Ala475Val)
n.1332-657G>A
c.1604C>T (p.Ala535Val)
c.1706C>T (p.Ala569Val)
c.1646C>T (p.Ala549Val)
n.3607-657G>A
n.4043-657G>A
c.1529C>T (p.Ala510Val)
c.1547C>T (p.Ala516Val)
c.1304C>T (p.Ala435Val)
c.1337C>T (p.Ala446Val)
c.1355C>T (p.Ala452Val)
 dbSNP gnomAD v2 gnomAD v4
2g.127428926dupCA2586969928PROCc.1366dup (p.Gln456ProfsTer?)
c.690dup
c.1468dup (p.Gln490ProfsTer?)
c.1549dup (p.Gln517ProfsTer?)
c.1531dup (p.Gln511ProfsTer?)
c.1429dup (p.Gln477ProfsTer?)
n.1332-657dup
c.1609dup (p.Gln537ProfsTer?)
c.1711dup (p.Gln571ProfsTer?)
c.1651dup (p.Gln551ProfsTer?)
n.3607-657dup
n.4043-657dup
c.1534dup (p.Gln512ProfsTer?)
c.1552dup (p.Gln518ProfsTer?)
c.1309dup (p.Gln437ProfsTer?)
c.1342dup (p.Gln448ProfsTer?)
c.1360dup (p.Gln454ProfsTer?)
2g.127428925_127428926dupCA2660997784PROCc.1365_1366dup (p.Gln456ProfsTer?)
c.689_690dup
c.1467_1468dup (p.Gln490ProfsTer?)
c.1548_1549dup (p.Gln517ProfsTer?)
c.1530_1531dup (p.Gln511ProfsTer?)
c.1428_1429dup (p.Gln477ProfsTer?)
n.1332-658_1332-657dup
c.1608_1609dup (p.Gln537ProfsTer?)
c.1710_1711dup (p.Gln571ProfsTer?)
c.1650_1651dup (p.Gln551ProfsTer?)
n.3607-658_3607-657dup
n.4043-658_4043-657dup
c.1533_1534dup (p.Gln512ProfsTer?)
c.1551_1552dup (p.Gln518ProfsTer?)
c.1308_1309dup (p.Gln437ProfsTer?)
c.1341_1342dup (p.Gln448ProfsTer?)
c.1359_1360dup (p.Gln454ProfsTer?)
 gnomAD v4
2g.127428926delCA2586969927PROCc.1366del (p.Gln456ArgfsTer?)
c.690del
c.1468del (p.Gln490ArgfsTer?)
c.1549del (p.Gln517ArgfsTer?)
c.1531del (p.Gln511ArgfsTer?)
c.1429del (p.Gln477ArgfsTer?)
n.1332-657del
c.1609del (p.Gln537ArgfsTer?)
c.1711del (p.Gln571ArgfsTer?)
c.1651del (p.Gln551ArgfsTer?)
n.3607-657del
n.4043-657del
c.1534del (p.Gln512ArgfsTer?)
c.1552del (p.Gln518ArgfsTer?)
c.1309del (p.Gln437ArgfsTer?)
c.1342del (p.Gln448ArgfsTer?)
c.1360del (p.Gln454ArgfsTer?)
2g.127428922C>ACA428873492PROCc.1362C>A (p.Ala454=)
c.686C>A
c.1464C>A (p.Ala488=)
c.1545C>A (p.Ala515=)
c.1527C>A (p.Ala509=)
c.1425C>A (p.Ala475=)
n.1332-658G>T
c.1605C>A (p.Ala535=)
c.1707C>A (p.Ala569=)
c.1647C>A (p.Ala549=)
n.3607-658G>T
n.4043-658G>T
c.1530C>A (p.Ala510=)
c.1548C>A (p.Ala516=)
c.1305C>A (p.Ala435=)
c.1338C>A (p.Ala446=)
c.1356C>A (p.Ala452=)
2g.127428922C>GCA428873494PROCc.1362C>G (p.Ala454=)
c.686C>G
c.1464C>G (p.Ala488=)
c.1545C>G (p.Ala515=)
c.1527C>G (p.Ala509=)
c.1425C>G (p.Ala475=)
n.1332-658G>C
c.1605C>G (p.Ala535=)
c.1707C>G (p.Ala569=)
c.1647C>G (p.Ala549=)
n.3607-658G>C
n.4043-658G>C
c.1530C>G (p.Ala510=)
c.1548C>G (p.Ala516=)
c.1305C>G (p.Ala435=)
c.1338C>G (p.Ala446=)
c.1356C>G (p.Ala452=)
2g.127428922C>TCA428873500PROCc.1362C>T (p.Ala454=)
c.686C>T
c.1464C>T (p.Ala488=)
c.1545C>T (p.Ala515=)
c.1527C>T (p.Ala509=)
c.1425C>T (p.Ala475=)
n.1332-658G>A
c.1605C>T (p.Ala535=)
c.1707C>T (p.Ala569=)
c.1647C>T (p.Ala549=)
n.3607-658G>A
n.4043-658G>A
c.1530C>T (p.Ala510=)
c.1548C>T (p.Ala516=)
c.1305C>T (p.Ala435=)
c.1338C>T (p.Ala446=)
c.1356C>T (p.Ala452=)
2g.127428923C>ACA348406756PROCc.1363C>A (p.Pro455Thr)
c.687C>A
c.1465C>A (p.Pro489Thr)
c.1546C>A (p.Pro516Thr)
c.1528C>A (p.Pro510Thr)
c.1426C>A (p.Pro476Thr)
n.1332-659G>T
c.1606C>A (p.Pro536Thr)
c.1708C>A (p.Pro570Thr)
c.1648C>A (p.Pro550Thr)
n.3607-659G>T
n.4043-659G>T
c.1531C>A (p.Pro511Thr)
c.1549C>A (p.Pro517Thr)
c.1306C>A (p.Pro436Thr)
c.1339C>A (p.Pro447Thr)
c.1357C>A (p.Pro453Thr)
2g.127428923C=CA1286884718PROCc.1363C= (p.Pro455=)
c.687C=
c.1465C= (p.Pro489=)
c.1546C= (p.Pro516=)
c.1528C= (p.Pro510=)
c.1426C= (p.Pro476=)
n.1332-659G=
c.1606C= (p.Pro536=)
c.1708C= (p.Pro570=)
c.1648C= (p.Pro550=)
n.3607-659G=
n.4043-659G=
c.1531C= (p.Pro511=)
c.1549C= (p.Pro517=)
c.1306C= (p.Pro436=)
c.1339C= (p.Pro447=)
c.1357C= (p.Pro453=)
2g.127428923C>GCA348406757PROCc.1363C>G (p.Pro455Ala)
c.687C>G
c.1465C>G (p.Pro489Ala)
c.1546C>G (p.Pro516Ala)
c.1528C>G (p.Pro510Ala)
c.1426C>G (p.Pro476Ala)
n.1332-659G>C
c.1606C>G (p.Pro536Ala)
c.1708C>G (p.Pro570Ala)
c.1648C>G (p.Pro550Ala)
n.3607-659G>C
n.4043-659G>C
c.1531C>G (p.Pro511Ala)
c.1549C>G (p.Pro517Ala)
c.1306C>G (p.Pro436Ala)
c.1339C>G (p.Pro447Ala)
c.1357C>G (p.Pro453Ala)
2g.127428923C>TCA348406758PROCc.1363C>T (p.Pro455Ser)
c.687C>T
c.1465C>T (p.Pro489Ser)
c.1546C>T (p.Pro516Ser)
c.1528C>T (p.Pro510Ser)
c.1426C>T (p.Pro476Ser)
n.1332-659G>A
c.1606C>T (p.Pro536Ser)
c.1708C>T (p.Pro570Ser)
c.1648C>T (p.Pro550Ser)
n.3607-659G>A
n.4043-659G>A
c.1531C>T (p.Pro511Ser)
c.1549C>T (p.Pro517Ser)
c.1306C>T (p.Pro436Ser)
c.1339C>T (p.Pro447Ser)
c.1357C>T (p.Pro453Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.127428924C>ACA348406761PROCc.1364C>A (p.Pro455His)
c.688C>A
c.1466C>A (p.Pro489His)
c.1547C>A (p.Pro516His)
c.1529C>A (p.Pro510His)
c.1427C>A (p.Pro476His)
n.1332-660G>T
c.1607C>A (p.Pro536His)
c.1709C>A (p.Pro570His)
c.1649C>A (p.Pro550His)
n.3607-660G>T
n.4043-660G>T
c.1532C>A (p.Pro511His)
c.1550C>A (p.Pro517His)
c.1307C>A (p.Pro436His)
c.1340C>A (p.Pro447His)
c.1358C>A (p.Pro453His)
2g.127428924C=CA1286884719PROCc.1364C= (p.Pro455=)
c.688C=
c.1466C= (p.Pro489=)
c.1547C= (p.Pro516=)
c.1529C= (p.Pro510=)
c.1427C= (p.Pro476=)
n.1332-660G=
c.1607C= (p.Pro536=)
c.1709C= (p.Pro570=)
c.1649C= (p.Pro550=)
n.3607-660G=
n.4043-660G=
c.1532C= (p.Pro511=)
c.1550C= (p.Pro517=)
c.1307C= (p.Pro436=)
c.1340C= (p.Pro447=)
c.1358C= (p.Pro453=)
2g.127428924C>GCA348406759PROCc.1364C>G (p.Pro455Arg)
c.688C>G
c.1466C>G (p.Pro489Arg)
c.1547C>G (p.Pro516Arg)
c.1529C>G (p.Pro510Arg)
c.1427C>G (p.Pro476Arg)
n.1332-660G>C
c.1607C>G (p.Pro536Arg)
c.1709C>G (p.Pro570Arg)
c.1649C>G (p.Pro550Arg)
n.3607-660G>C
n.4043-660G>C
c.1532C>G (p.Pro511Arg)
c.1550C>G (p.Pro517Arg)
c.1307C>G (p.Pro436Arg)
c.1340C>G (p.Pro447Arg)
c.1358C>G (p.Pro453Arg)
 gnomAD v4
2g.127428924C>TCA348406760PROCc.1364C>T (p.Pro455Leu)
c.688C>T
c.1466C>T (p.Pro489Leu)
c.1547C>T (p.Pro516Leu)
c.1529C>T (p.Pro510Leu)
c.1427C>T (p.Pro476Leu)
n.1332-660G>A
c.1607C>T (p.Pro536Leu)
c.1709C>T (p.Pro570Leu)
c.1649C>T (p.Pro550Leu)
n.3607-660G>A
n.4043-660G>A
c.1532C>T (p.Pro511Leu)
c.1550C>T (p.Pro517Leu)
c.1307C>T (p.Pro436Leu)
c.1340C>T (p.Pro447Leu)
c.1358C>T (p.Pro453Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.127428925C>ACA428873546PROCc.1365C>A (p.Pro455=)
c.689C>A
c.1467C>A (p.Pro489=)
c.1548C>A (p.Pro516=)
c.1530C>A (p.Pro510=)
c.1428C>A (p.Pro476=)
n.1332-661G>T
c.1608C>A (p.Pro536=)
c.1710C>A (p.Pro570=)
c.1650C>A (p.Pro550=)
n.3607-661G>T
n.4043-661G>T
c.1533C>A (p.Pro511=)
c.1551C>A (p.Pro517=)
c.1308C>A (p.Pro436=)
c.1341C>A (p.Pro447=)
c.1359C>A (p.Pro453=)
2g.127428925C>GCA428873542PROCc.1365C>G (p.Pro455=)
c.689C>G
c.1467C>G (p.Pro489=)
c.1548C>G (p.Pro516=)
c.1530C>G (p.Pro510=)
c.1428C>G (p.Pro476=)
n.1332-661G>C
c.1608C>G (p.Pro536=)
c.1710C>G (p.Pro570=)
c.1650C>G (p.Pro550=)
n.3607-661G>C
n.4043-661G>C
c.1533C>G (p.Pro511=)
c.1551C>G (p.Pro517=)
c.1308C>G (p.Pro436=)
c.1341C>G (p.Pro447=)
c.1359C>G (p.Pro453=)
2g.127428925C>TCA428873541PROCc.1365C>T (p.Pro455=)
c.689C>T
c.1467C>T (p.Pro489=)
c.1548C>T (p.Pro516=)
c.1530C>T (p.Pro510=)
c.1428C>T (p.Pro476=)
n.1332-661G>A
c.1608C>T (p.Pro536=)
c.1710C>T (p.Pro570=)
c.1650C>T (p.Pro550=)
n.3607-661G>A
n.4043-661G>A
c.1533C>T (p.Pro511=)
c.1551C>T (p.Pro517=)
c.1308C>T (p.Pro436=)
c.1341C>T (p.Pro447=)
c.1359C>T (p.Pro453=)
2g.127428926C>ACA348406762PROCc.1366C>A (p.Gln456Lys)
c.690C>A
c.1468C>A (p.Gln490Lys)
c.1549C>A (p.Gln517Lys)
c.1531C>A (p.Gln511Lys)
c.1429C>A (p.Gln477Lys)
n.1332-662G>T
c.1609C>A (p.Gln537Lys)
c.1711C>A (p.Gln571Lys)
c.1651C>A (p.Gln551Lys)
n.3607-662G>T
n.4043-662G>T
c.1534C>A (p.Gln512Lys)
c.1552C>A (p.Gln518Lys)
c.1309C>A (p.Gln437Lys)
c.1342C>A (p.Gln448Lys)
c.1360C>A (p.Gln454Lys)
2g.127428926C=CA1286884720PROCc.1366C= (p.Gln456=)
c.690C=
c.1468C= (p.Gln490=)
c.1549C= (p.Gln517=)
c.1531C= (p.Gln511=)
c.1429C= (p.Gln477=)
n.1332-662G=
c.1609C= (p.Gln537=)
c.1711C= (p.Gln571=)
c.1651C= (p.Gln551=)
n.3607-662G=
n.4043-662G=
c.1534C= (p.Gln512=)
c.1552C= (p.Gln518=)
c.1309C= (p.Gln437=)
c.1342C= (p.Gln448=)
c.1360C= (p.Gln454=)
2g.127428926C>GCA348406763PROCc.1366C>G (p.Gln456Glu)
c.690C>G
c.1468C>G (p.Gln490Glu)
c.1549C>G (p.Gln517Glu)
c.1531C>G (p.Gln511Glu)
c.1429C>G (p.Gln477Glu)
n.1332-662G>C
c.1609C>G (p.Gln537Glu)
c.1711C>G (p.Gln571Glu)
c.1651C>G (p.Gln551Glu)
n.3607-662G>C
n.4043-662G>C
c.1534C>G (p.Gln512Glu)
c.1552C>G (p.Gln518Glu)
c.1309C>G (p.Gln437Glu)
c.1342C>G (p.Gln448Glu)
c.1360C>G (p.Gln454Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428926C>TCA348406764PROCc.1366C>T (p.Gln456Ter)
c.690C>T
c.1468C>T (p.Gln490Ter)
c.1549C>T (p.Gln517Ter)
c.1531C>T (p.Gln511Ter)
c.1429C>T (p.Gln477Ter)
n.1332-662G>A
c.1609C>T (p.Gln537Ter)
c.1711C>T (p.Gln571Ter)
c.1651C>T (p.Gln551Ter)
n.3607-662G>A
n.4043-662G>A
c.1534C>T (p.Gln512Ter)
c.1552C>T (p.Gln518Ter)
c.1309C>T (p.Gln437Ter)
c.1342C>T (p.Gln448Ter)
c.1360C>T (p.Gln454Ter)
 gnomAD v4
2g.127428927A>CCA348406765PROCc.1367A>C (p.Gln456Pro)
c.691A>C
c.1469A>C (p.Gln490Pro)
c.1550A>C (p.Gln517Pro)
c.1532A>C (p.Gln511Pro)
c.1430A>C (p.Gln477Pro)
n.1332-663T>G
c.1610A>C (p.Gln537Pro)
c.1712A>C (p.Gln571Pro)
c.1652A>C (p.Gln551Pro)
n.3607-663T>G
n.4043-663T>G
c.1535A>C (p.Gln512Pro)
c.1553A>C (p.Gln518Pro)
c.1310A>C (p.Gln437Pro)
c.1343A>C (p.Gln448Pro)
c.1361A>C (p.Gln454Pro)
2g.127428927A>GCA348406766PROCc.1367A>G (p.Gln456Arg)
c.691A>G
c.1469A>G (p.Gln490Arg)
c.1550A>G (p.Gln517Arg)
c.1532A>G (p.Gln511Arg)
c.1430A>G (p.Gln477Arg)
n.1332-663T>C
c.1610A>G (p.Gln537Arg)
c.1712A>G (p.Gln571Arg)
c.1652A>G (p.Gln551Arg)
n.3607-663T>C
n.4043-663T>C
c.1535A>G (p.Gln512Arg)
c.1553A>G (p.Gln518Arg)
c.1310A>G (p.Gln437Arg)
c.1343A>G (p.Gln448Arg)
c.1361A>G (p.Gln454Arg)
2g.127428927A>TCA348406767PROCc.1367A>T (p.Gln456Leu)
c.691A>T
c.1469A>T (p.Gln490Leu)
c.1550A>T (p.Gln517Leu)
c.1532A>T (p.Gln511Leu)
c.1430A>T (p.Gln477Leu)
n.1332-663T>A
c.1610A>T (p.Gln537Leu)
c.1712A>T (p.Gln571Leu)
c.1652A>T (p.Gln551Leu)
n.3607-663T>A
n.4043-663T>A
c.1535A>T (p.Gln512Leu)
c.1553A>T (p.Gln518Leu)
c.1310A>T (p.Gln437Leu)
c.1343A>T (p.Gln448Leu)
c.1361A>T (p.Gln454Leu)
2g.127428927_127428928delinsAGCA1286884721PROCc.1367_1368delinsAG (p.Gln456=)
c.691_692delinsAG
c.1469_1470delinsAG (p.Gln490=)
c.1550_1551delinsAG (p.Gln517=)
c.1532_1533delinsAG (p.Gln511=)
c.1430_1431delinsAG (p.Gln477=)
n.1332-664_1332-663delinsCT
c.1610_1611delinsAG (p.Gln537=)
c.1712_1713delinsAG (p.Gln571=)
c.1652_1653delinsAG (p.Gln551=)
n.3607-664_3607-663delinsCT
n.4043-664_4043-663delinsCT
c.1535_1536delinsAG (p.Gln512=)
c.1553_1554delinsAG (p.Gln518=)
c.1310_1311delinsAG (p.Gln437=)
c.1343_1344delinsAG (p.Gln448=)
c.1361_1362delinsAG (p.Gln454=)
2g.127428928delCA915944097PROCc.1368del (p.Lys457ArgfsTer?)
c.692del
c.1470del (p.Lys491ArgfsTer?)
c.1551del (p.Lys518ArgfsTer?)
c.1533del (p.Lys512ArgfsTer?)
c.1431del (p.Lys478ArgfsTer?)
n.1332-664del
c.1611del (p.Lys538ArgfsTer?)
c.1713del (p.Lys572ArgfsTer?)
c.1653del (p.Lys552ArgfsTer?)
n.3607-664del
n.4043-664del
c.1536del (p.Lys513ArgfsTer?)
c.1554del (p.Lys519ArgfsTer?)
c.1311del (p.Lys438ArgfsTer?)
c.1344del (p.Lys449ArgfsTer?)
c.1362del (p.Lys455ArgfsTer?)
 ClinVar dbSNP
2g.127428928G>ACA428873566PROCc.1368G>A (p.Gln456=)
c.692G>A
c.1470G>A (p.Gln490=)
c.1551G>A (p.Gln517=)
c.1533G>A (p.Gln511=)
c.1431G>A (p.Gln477=)
n.1332-664C>T
c.1611G>A (p.Gln537=)
c.1713G>A (p.Gln571=)
c.1653G>A (p.Gln551=)
n.3607-664C>T
n.4043-664C>T
c.1536G>A (p.Gln512=)
c.1554G>A (p.Gln518=)
c.1311G>A (p.Gln437=)
c.1344G>A (p.Gln448=)
c.1362G>A (p.Gln454=)
2g.127428928G>CCA348406768PROCc.1368G>C (p.Gln456His)
c.692G>C
c.1470G>C (p.Gln490His)
c.1551G>C (p.Gln517His)
c.1533G>C (p.Gln511His)
c.1431G>C (p.Gln477His)
n.1332-664C>G
c.1611G>C (p.Gln537His)
c.1713G>C (p.Gln571His)
c.1653G>C (p.Gln551His)
n.3607-664C>G
n.4043-664C>G
c.1536G>C (p.Gln512His)
c.1554G>C (p.Gln518His)
c.1311G>C (p.Gln437His)
c.1344G>C (p.Gln448His)
c.1362G>C (p.Gln454His)
2g.127428928G>TCA348406769PROCc.1368G>T (p.Gln456His)
c.692G>T
c.1470G>T (p.Gln490His)
c.1551G>T (p.Gln517His)
c.1533G>T (p.Gln511His)
c.1431G>T (p.Gln477His)
n.1332-664C>A
c.1611G>T (p.Gln537His)
c.1713G>T (p.Gln571His)
c.1653G>T (p.Gln551His)
n.3607-664C>A
n.4043-664C>A
c.1536G>T (p.Gln512His)
c.1554G>T (p.Gln518His)
c.1311G>T (p.Gln437His)
c.1344G>T (p.Gln448His)
c.1362G>T (p.Gln454His)
2g.127428929A>CCA348406770PROCc.1369A>C (p.Lys457Gln)
c.693A>C
c.1471A>C (p.Lys491Gln)
c.1552A>C (p.Lys518Gln)
c.1534A>C (p.Lys512Gln)
c.1432A>C (p.Lys478Gln)
n.1332-665T>G
c.1612A>C (p.Lys538Gln)
c.1714A>C (p.Lys572Gln)
c.1654A>C (p.Lys552Gln)
n.3607-665T>G
n.4043-665T>G
c.1537A>C (p.Lys513Gln)
c.1555A>C (p.Lys519Gln)
c.1312A>C (p.Lys438Gln)
c.1345A>C (p.Lys449Gln)
c.1363A>C (p.Lys455Gln)
 COSMIC
2g.127428929A>GCA348406771PROCc.1369A>G (p.Lys457Glu)
c.693A>G
c.1471A>G (p.Lys491Glu)
c.1552A>G (p.Lys518Glu)
c.1534A>G (p.Lys512Glu)
c.1432A>G (p.Lys478Glu)
n.1332-665T>C
c.1612A>G (p.Lys538Glu)
c.1714A>G (p.Lys572Glu)
c.1654A>G (p.Lys552Glu)
n.3607-665T>C
n.4043-665T>C
c.1537A>G (p.Lys513Glu)
c.1555A>G (p.Lys519Glu)
c.1312A>G (p.Lys438Glu)
c.1345A>G (p.Lys449Glu)
c.1363A>G (p.Lys455Glu)
2g.127428929A>TCA348406772PROCc.1369A>T (p.Lys457Ter)
c.693A>T
c.1471A>T (p.Lys491Ter)
c.1552A>T (p.Lys518Ter)
c.1534A>T (p.Lys512Ter)
c.1432A>T (p.Lys478Ter)
n.1332-665T>A
c.1612A>T (p.Lys538Ter)
c.1714A>T (p.Lys572Ter)
c.1654A>T (p.Lys552Ter)
n.3607-665T>A
n.4043-665T>A
c.1537A>T (p.Lys513Ter)
c.1555A>T (p.Lys519Ter)
c.1312A>T (p.Lys438Ter)
c.1345A>T (p.Lys449Ter)
c.1363A>T (p.Lys455Ter)
2g.127428930A>CCA348406775PROCc.1370A>C (p.Lys457Thr)
c.694A>C
c.1472A>C (p.Lys491Thr)
c.1553A>C (p.Lys518Thr)
c.1535A>C (p.Lys512Thr)
c.1433A>C (p.Lys478Thr)
n.1332-666T>G
c.1613A>C (p.Lys538Thr)
c.1715A>C (p.Lys572Thr)
c.1655A>C (p.Lys552Thr)
n.3607-666T>G
n.4043-666T>G
c.1538A>C (p.Lys513Thr)
c.1556A>C (p.Lys519Thr)
c.1313A>C (p.Lys438Thr)
c.1346A>C (p.Lys449Thr)
c.1364A>C (p.Lys455Thr)
2g.127428930A>GCA348406774PROCc.1370A>G (p.Lys457Arg)
c.694A>G
c.1472A>G (p.Lys491Arg)
c.1553A>G (p.Lys518Arg)
c.1535A>G (p.Lys512Arg)
c.1433A>G (p.Lys478Arg)
n.1332-666T>C
c.1613A>G (p.Lys538Arg)
c.1715A>G (p.Lys572Arg)
c.1655A>G (p.Lys552Arg)
n.3607-666T>C
n.4043-666T>C
c.1538A>G (p.Lys513Arg)
c.1556A>G (p.Lys519Arg)
c.1313A>G (p.Lys438Arg)
c.1346A>G (p.Lys449Arg)
c.1364A>G (p.Lys455Arg)
2g.127428930A>TCA348406773PROCc.1370A>T (p.Lys457Met)
c.694A>T
c.1472A>T (p.Lys491Met)
c.1553A>T (p.Lys518Met)
c.1535A>T (p.Lys512Met)
c.1433A>T (p.Lys478Met)
n.1332-666T>A
c.1613A>T (p.Lys538Met)
c.1715A>T (p.Lys572Met)
c.1655A>T (p.Lys552Met)
n.3607-666T>A
n.4043-666T>A
c.1538A>T (p.Lys513Met)
c.1556A>T (p.Lys519Met)
c.1313A>T (p.Lys438Met)
c.1346A>T (p.Lys449Met)
c.1364A>T (p.Lys455Met)
2g.127428931G>ACA428873584PROCc.1371G>A (p.Lys457=)
c.695G>A
c.1473G>A (p.Lys491=)
c.1554G>A (p.Lys518=)
c.1536G>A (p.Lys512=)
c.1434G>A (p.Lys478=)
n.1332-667C>T
c.1614G>A (p.Lys538=)
c.1716G>A (p.Lys572=)
c.1656G>A (p.Lys552=)
n.3607-667C>T
n.4043-667C>T
c.1539G>A (p.Lys513=)
c.1557G>A (p.Lys519=)
c.1314G>A (p.Lys438=)
c.1347G>A (p.Lys449=)
c.1365G>A (p.Lys455=)
 dbSNP gnomAD v3 gnomAD v4
2g.127428931G>CCA348406776PROCc.1371G>C (p.Lys457Asn)
c.695G>C
c.1473G>C (p.Lys491Asn)
c.1554G>C (p.Lys518Asn)
c.1536G>C (p.Lys512Asn)
c.1434G>C (p.Lys478Asn)
n.1332-667C>G
c.1614G>C (p.Lys538Asn)
c.1716G>C (p.Lys572Asn)
c.1656G>C (p.Lys552Asn)
n.3607-667C>G
n.4043-667C>G
c.1539G>C (p.Lys513Asn)
c.1557G>C (p.Lys519Asn)
c.1314G>C (p.Lys438Asn)
c.1347G>C (p.Lys449Asn)
c.1365G>C (p.Lys455Asn)
 gnomAD v4
2g.127428931G=CA1286884722PROCc.1371G= (p.Lys457=)
c.695G=
c.1473G= (p.Lys491=)
c.1554G= (p.Lys518=)
c.1536G= (p.Lys512=)
c.1434G= (p.Lys478=)
n.1332-667C=
c.1614G= (p.Lys538=)
c.1716G= (p.Lys572=)
c.1656G= (p.Lys552=)
n.3607-667C=
n.4043-667C=
c.1539G= (p.Lys513=)
c.1557G= (p.Lys519=)
c.1314G= (p.Lys438=)
c.1347G= (p.Lys449=)
c.1365G= (p.Lys455=)
2g.127428931G>TCA348406777PROCc.1371G>T (p.Lys457Asn)
c.695G>T
c.1473G>T (p.Lys491Asn)
c.1554G>T (p.Lys518Asn)
c.1536G>T (p.Lys512Asn)
c.1434G>T (p.Lys478Asn)
n.1332-667C>A
c.1614G>T (p.Lys538Asn)
c.1716G>T (p.Lys572Asn)
c.1656G>T (p.Lys552Asn)
n.3607-667C>A
n.4043-667C>A
c.1539G>T (p.Lys513Asn)
c.1557G>T (p.Lys519Asn)
c.1314G>T (p.Lys438Asn)
c.1347G>T (p.Lys449Asn)
c.1365G>T (p.Lys455Asn)
2g.127428932A>CCA348406778PROCc.1372A>C (p.Ser458Arg)
c.696A>C
c.1474A>C (p.Ser492Arg)
c.1555A>C (p.Ser519Arg)
c.1537A>C (p.Ser513Arg)
c.1435A>C (p.Ser479Arg)
n.1332-668T>G
c.1615A>C (p.Ser539Arg)
c.1717A>C (p.Ser573Arg)
c.1657A>C (p.Ser553Arg)
n.3607-668T>G
n.4043-668T>G
c.1540A>C (p.Ser514Arg)
c.1558A>C (p.Ser520Arg)
c.1315A>C (p.Ser439Arg)
c.1348A>C (p.Ser450Arg)
c.1366A>C (p.Ser456Arg)
2g.127428932A>GCA348406779PROCc.1372A>G (p.Ser458Gly)
c.696A>G
c.1474A>G (p.Ser492Gly)
c.1555A>G (p.Ser519Gly)
c.1537A>G (p.Ser513Gly)
c.1435A>G (p.Ser479Gly)
n.1332-668T>C
c.1615A>G (p.Ser539Gly)
c.1717A>G (p.Ser573Gly)
c.1657A>G (p.Ser553Gly)
n.3607-668T>C
n.4043-668T>C
c.1540A>G (p.Ser514Gly)
c.1558A>G (p.Ser520Gly)
c.1315A>G (p.Ser439Gly)
c.1348A>G (p.Ser450Gly)
c.1366A>G (p.Ser456Gly)
2g.127428932A>TCA348406780PROCc.1372A>T (p.Ser458Cys)
c.696A>T
c.1474A>T (p.Ser492Cys)
c.1555A>T (p.Ser519Cys)
c.1537A>T (p.Ser513Cys)
c.1435A>T (p.Ser479Cys)
n.1332-668T>A
c.1615A>T (p.Ser539Cys)
c.1717A>T (p.Ser573Cys)
c.1657A>T (p.Ser553Cys)
n.3607-668T>A
n.4043-668T>A
c.1540A>T (p.Ser514Cys)
c.1558A>T (p.Ser520Cys)
c.1315A>T (p.Ser439Cys)
c.1348A>T (p.Ser450Cys)
c.1366A>T (p.Ser456Cys)
 gnomAD v4
2g.127428933G>ACA348406781PROCc.1373G>A (p.Ser458Asn)
c.697G>A
c.1475G>A (p.Ser492Asn)
c.1556G>A (p.Ser519Asn)
c.1538G>A (p.Ser513Asn)
c.1436G>A (p.Ser479Asn)
n.1332-669C>T
c.1616G>A (p.Ser539Asn)
c.1718G>A (p.Ser573Asn)
c.1658G>A (p.Ser553Asn)
n.3607-669C>T
n.4043-669C>T
c.1541G>A (p.Ser514Asn)
c.1559G>A (p.Ser520Asn)
c.1316G>A (p.Ser439Asn)
c.1349G>A (p.Ser450Asn)
c.1367G>A (p.Ser456Asn)
2g.127428933G>CCA348406782PROCc.1373G>C (p.Ser458Thr)
c.697G>C
c.1475G>C (p.Ser492Thr)
c.1556G>C (p.Ser519Thr)
c.1538G>C (p.Ser513Thr)
c.1436G>C (p.Ser479Thr)
n.1332-669C>G
c.1616G>C (p.Ser539Thr)
c.1718G>C (p.Ser573Thr)
c.1658G>C (p.Ser553Thr)
n.3607-669C>G
n.4043-669C>G
c.1541G>C (p.Ser514Thr)
c.1559G>C (p.Ser520Thr)
c.1316G>C (p.Ser439Thr)
c.1349G>C (p.Ser450Thr)
c.1367G>C (p.Ser456Thr)
2g.127428933G>TCA348406783PROCc.1373G>T (p.Ser458Ile)
c.697G>T
c.1475G>T (p.Ser492Ile)
c.1556G>T (p.Ser519Ile)
c.1538G>T (p.Ser513Ile)
c.1436G>T (p.Ser479Ile)
n.1332-669C>A
c.1616G>T (p.Ser539Ile)
c.1718G>T (p.Ser573Ile)
c.1658G>T (p.Ser553Ile)
n.3607-669C>A
n.4043-669C>A
c.1541G>T (p.Ser514Ile)
c.1559G>T (p.Ser520Ile)
c.1316G>T (p.Ser439Ile)
c.1349G>T (p.Ser450Ile)
c.1367G>T (p.Ser456Ile)
2g.127428934C>ACA55351579PROCc.1374C>A (p.Ser458Arg)
c.698C>A
c.1476C>A (p.Ser492Arg)
c.1557C>A (p.Ser519Arg)
c.1539C>A (p.Ser513Arg)
c.1437C>A (p.Ser479Arg)
n.1332-670G>T
c.1617C>A (p.Ser539Arg)
c.1719C>A (p.Ser573Arg)
c.1659C>A (p.Ser553Arg)
n.3607-670G>T
n.4043-670G>T
c.1542C>A (p.Ser514Arg)
c.1560C>A (p.Ser520Arg)
c.1317C>A (p.Ser439Arg)
c.1350C>A (p.Ser450Arg)
c.1368C>A (p.Ser456Arg)
 dbSNP gnomAD v4
2g.127428934C=CA1286884723PROCc.1374C= (p.Ser458=)
c.698C=
c.1476C= (p.Ser492=)
c.1557C= (p.Ser519=)
c.1539C= (p.Ser513=)
c.1437C= (p.Ser479=)
n.1332-670G=
c.1617C= (p.Ser539=)
c.1719C= (p.Ser573=)
c.1659C= (p.Ser553=)
n.3607-670G=
n.4043-670G=
c.1542C= (p.Ser514=)
c.1560C= (p.Ser520=)
c.1317C= (p.Ser439=)
c.1350C= (p.Ser450=)
c.1368C= (p.Ser456=)
2g.127428934C>GCA1859575PROCc.1374C>G (p.Ser458Arg)
c.698C>G
c.1476C>G (p.Ser492Arg)
c.1557C>G (p.Ser519Arg)
c.1539C>G (p.Ser513Arg)
c.1437C>G (p.Ser479Arg)
n.1332-670G>C
c.1617C>G (p.Ser539Arg)
c.1719C>G (p.Ser573Arg)
c.1659C>G (p.Ser553Arg)
n.3607-670G>C
n.4043-670G>C
c.1542C>G (p.Ser514Arg)
c.1560C>G (p.Ser520Arg)
c.1317C>G (p.Ser439Arg)
c.1350C>G (p.Ser450Arg)
c.1368C>G (p.Ser456Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428934C>TCA428873615PROCc.1374C>T (p.Ser458=)
c.698C>T
c.1476C>T (p.Ser492=)
c.1557C>T (p.Ser519=)
c.1539C>T (p.Ser513=)
c.1437C>T (p.Ser479=)
n.1332-670G>A
c.1617C>T (p.Ser539=)
c.1719C>T (p.Ser573=)
c.1659C>T (p.Ser553=)
n.3607-670G>A
n.4043-670G>A
c.1542C>T (p.Ser514=)
c.1560C>T (p.Ser520=)
c.1317C>T (p.Ser439=)
c.1350C>T (p.Ser450=)
c.1368C>T (p.Ser456=)
2g.127428935T>ACA348406784PROCc.1375T>A (p.Trp459Arg)
c.699T>A
c.1477T>A (p.Trp493Arg)
c.1558T>A (p.Trp520Arg)
c.1540T>A (p.Trp514Arg)
c.1438T>A (p.Trp480Arg)
n.1332-671A>T
c.1618T>A (p.Trp540Arg)
c.1720T>A (p.Trp574Arg)
c.1660T>A (p.Trp554Arg)
n.3607-671A>T
n.4043-671A>T
c.1543T>A (p.Trp515Arg)
c.1561T>A (p.Trp521Arg)
c.1318T>A (p.Trp440Arg)
c.1351T>A (p.Trp451Arg)
c.1369T>A (p.Trp457Arg)
2g.127428935T>CCA348406785PROCc.1375T>C (p.Trp459Arg)
c.699T>C
c.1477T>C (p.Trp493Arg)
c.1558T>C (p.Trp520Arg)
c.1540T>C (p.Trp514Arg)
c.1438T>C (p.Trp480Arg)
n.1332-671A>G
c.1618T>C (p.Trp540Arg)
c.1720T>C (p.Trp574Arg)
c.1660T>C (p.Trp554Arg)
n.3607-671A>G
n.4043-671A>G
c.1543T>C (p.Trp515Arg)
c.1561T>C (p.Trp521Arg)
c.1318T>C (p.Trp440Arg)
c.1351T>C (p.Trp451Arg)
c.1369T>C (p.Trp457Arg)
2g.127428935T>GCA348406786PROCc.1375T>G (p.Trp459Gly)
c.699T>G
c.1477T>G (p.Trp493Gly)
c.1558T>G (p.Trp520Gly)
c.1540T>G (p.Trp514Gly)
c.1438T>G (p.Trp480Gly)
n.1332-671A>C
c.1618T>G (p.Trp540Gly)
c.1720T>G (p.Trp574Gly)
c.1660T>G (p.Trp554Gly)
n.3607-671A>C
n.4043-671A>C
c.1543T>G (p.Trp515Gly)
c.1561T>G (p.Trp521Gly)
c.1318T>G (p.Trp440Gly)
c.1351T>G (p.Trp451Gly)
c.1369T>G (p.Trp457Gly)
2g.127428936G>ACA348406790PROCc.1376G>A (p.Trp459Ter)
c.700G>A
c.1478G>A (p.Trp493Ter)
c.1559G>A (p.Trp520Ter)
c.1541G>A (p.Trp514Ter)
c.1439G>A (p.Trp480Ter)
n.1332-672C>T
c.1619G>A (p.Trp540Ter)
c.1721G>A (p.Trp574Ter)
c.1661G>A (p.Trp554Ter)
n.3607-672C>T
n.4043-672C>T
c.1544G>A (p.Trp515Ter)
c.1562G>A (p.Trp521Ter)
c.1319G>A (p.Trp440Ter)
c.1352G>A (p.Trp451Ter)
c.1370G>A (p.Trp457Ter)
2g.127428936G>CCA348406788PROCc.1376G>C (p.Trp459Ser)
c.700G>C
c.1478G>C (p.Trp493Ser)
c.1559G>C (p.Trp520Ser)
c.1541G>C (p.Trp514Ser)
c.1439G>C (p.Trp480Ser)
n.1332-672C>G
c.1619G>C (p.Trp540Ser)
c.1721G>C (p.Trp574Ser)
c.1661G>C (p.Trp554Ser)
n.3607-672C>G
n.4043-672C>G
c.1544G>C (p.Trp515Ser)
c.1562G>C (p.Trp521Ser)
c.1319G>C (p.Trp440Ser)
c.1352G>C (p.Trp451Ser)
c.1370G>C (p.Trp457Ser)
2g.127428936G>TCA348406787PROCc.1376G>T (p.Trp459Leu)
c.700G>T
c.1478G>T (p.Trp493Leu)
c.1559G>T (p.Trp520Leu)
c.1541G>T (p.Trp514Leu)
c.1439G>T (p.Trp480Leu)
n.1332-672C>A
c.1619G>T (p.Trp540Leu)
c.1721G>T (p.Trp574Leu)
c.1661G>T (p.Trp554Leu)
n.3607-672C>A
n.4043-672C>A
c.1544G>T (p.Trp515Leu)
c.1562G>T (p.Trp521Leu)
c.1319G>T (p.Trp440Leu)
c.1352G>T (p.Trp451Leu)
c.1370G>T (p.Trp457Leu)
2g.127428938delCA2660997785PROCc.1378del (p.Ala460HisfsTer?)
c.702del
c.1480del (p.Ala494HisfsTer?)
c.1561del (p.Ala521HisfsTer?)
c.1543del (p.Ala515HisfsTer?)
c.1441del (p.Ala481HisfsTer?)
n.1332-672del
c.1621del (p.Ala541HisfsTer?)
c.1723del (p.Ala575HisfsTer?)
c.1663del (p.Ala555HisfsTer?)
n.3607-672del
n.4043-672del
c.1546del (p.Ala516HisfsTer?)
c.1564del (p.Ala522HisfsTer?)
c.1321del (p.Ala441HisfsTer?)
c.1354del (p.Ala452HisfsTer?)
c.1372del (p.Ala458HisfsTer?)
 gnomAD v4
2g.127428937G>ACA348406792PROCc.1377G>A (p.Trp459Ter)
c.701G>A
c.1479G>A (p.Trp493Ter)
c.1560G>A (p.Trp520Ter)
c.1542G>A (p.Trp514Ter)
c.1440G>A (p.Trp480Ter)
n.1332-673C>T
c.1620G>A (p.Trp540Ter)
c.1722G>A (p.Trp574Ter)
c.1662G>A (p.Trp554Ter)
n.3607-673C>T
n.4043-673C>T
c.1545G>A (p.Trp515Ter)
c.1563G>A (p.Trp521Ter)
c.1320G>A (p.Trp440Ter)
c.1353G>A (p.Trp451Ter)
c.1371G>A (p.Trp457Ter)
2g.127428937G>CCA348406794PROCc.1377G>C (p.Trp459Cys)
c.701G>C
c.1479G>C (p.Trp493Cys)
c.1560G>C (p.Trp520Cys)
c.1542G>C (p.Trp514Cys)
c.1440G>C (p.Trp480Cys)
n.1332-673C>G
c.1620G>C (p.Trp540Cys)
c.1722G>C (p.Trp574Cys)
c.1662G>C (p.Trp554Cys)
n.3607-673C>G
n.4043-673C>G
c.1545G>C (p.Trp515Cys)
c.1563G>C (p.Trp521Cys)
c.1320G>C (p.Trp440Cys)
c.1353G>C (p.Trp451Cys)
c.1371G>C (p.Trp457Cys)
2g.127428937G=CA1286884724PROCc.1377G= (p.Trp459=)
c.701G=
c.1479G= (p.Trp493=)
c.1560G= (p.Trp520=)
c.1542G= (p.Trp514=)
c.1440G= (p.Trp480=)
n.1332-673C=
c.1620G= (p.Trp540=)
c.1722G= (p.Trp574=)
c.1662G= (p.Trp554=)
n.3607-673C=
n.4043-673C=
c.1545G= (p.Trp515=)
c.1563G= (p.Trp521=)
c.1320G= (p.Trp440=)
c.1353G= (p.Trp451=)
c.1371G= (p.Trp457=)
2g.127428937G>TCA348406796PROCc.1377G>T (p.Trp459Cys)
c.701G>T
c.1479G>T (p.Trp493Cys)
c.1560G>T (p.Trp520Cys)
c.1542G>T (p.Trp514Cys)
c.1440G>T (p.Trp480Cys)
n.1332-673C>A
c.1620G>T (p.Trp540Cys)
c.1722G>T (p.Trp574Cys)
c.1662G>T (p.Trp554Cys)
n.3607-673C>A
n.4043-673C>A
c.1545G>T (p.Trp515Cys)
c.1563G>T (p.Trp521Cys)
c.1320G>T (p.Trp440Cys)
c.1353G>T (p.Trp451Cys)
c.1371G>T (p.Trp457Cys)
2g.127428938G>ACA348406799PROCc.1378G>A (p.Ala460Thr)
c.702G>A
c.1480G>A (p.Ala494Thr)
c.1561G>A (p.Ala521Thr)
c.1543G>A (p.Ala515Thr)
c.1441G>A (p.Ala481Thr)
n.1332-674C>T
c.1621G>A (p.Ala541Thr)
c.1723G>A (p.Ala575Thr)
c.1663G>A (p.Ala555Thr)
n.3607-674C>T
n.4043-674C>T
c.1546G>A (p.Ala516Thr)
c.1564G>A (p.Ala522Thr)
c.1321G>A (p.Ala441Thr)
c.1354G>A (p.Ala452Thr)
c.1372G>A (p.Ala458Thr)
 gnomAD v4
2g.127428938G>CCA348406801PROCc.1378G>C (p.Ala460Pro)
c.702G>C
c.1480G>C (p.Ala494Pro)
c.1561G>C (p.Ala521Pro)
c.1543G>C (p.Ala515Pro)
c.1441G>C (p.Ala481Pro)
n.1332-674C>G
c.1621G>C (p.Ala541Pro)
c.1723G>C (p.Ala575Pro)
c.1663G>C (p.Ala555Pro)
n.3607-674C>G
n.4043-674C>G
c.1546G>C (p.Ala516Pro)
c.1564G>C (p.Ala522Pro)
c.1321G>C (p.Ala441Pro)
c.1354G>C (p.Ala452Pro)
c.1372G>C (p.Ala458Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.127428938G=CA1286884725PROCc.1378G= (p.Ala460=)
c.702G=
c.1480G= (p.Ala494=)
c.1561G= (p.Ala521=)
c.1543G= (p.Ala515=)
c.1441G= (p.Ala481=)
n.1332-674C=
c.1621G= (p.Ala541=)
c.1723G= (p.Ala575=)
c.1663G= (p.Ala555=)
n.3607-674C=
n.4043-674C=
c.1546G= (p.Ala516=)
c.1564G= (p.Ala522=)
c.1321G= (p.Ala441=)
c.1354G= (p.Ala452=)
c.1372G= (p.Ala458=)
2g.127428938G>TCA348406803PROCc.1378G>T (p.Ala460Ser)
c.702G>T
c.1480G>T (p.Ala494Ser)
c.1561G>T (p.Ala521Ser)
c.1543G>T (p.Ala515Ser)
c.1441G>T (p.Ala481Ser)
n.1332-674C>A
c.1621G>T (p.Ala541Ser)
c.1723G>T (p.Ala575Ser)
c.1663G>T (p.Ala555Ser)
n.3607-674C>A
n.4043-674C>A
c.1546G>T (p.Ala516Ser)
c.1564G>T (p.Ala522Ser)
c.1321G>T (p.Ala441Ser)
c.1354G>T (p.Ala452Ser)
c.1372G>T (p.Ala458Ser)
2g.127428938_127428939dupCA915944098PROCc.1378_1379dup (p.Pro461HisfsTer?)
c.702_703dup
c.1480_1481dup (p.Pro495HisfsTer?)
c.1561_1562dup (p.Pro522HisfsTer?)
c.1543_1544dup (p.Pro516HisfsTer?)
c.1441_1442dup (p.Pro482HisfsTer?)
n.1332-675_1332-674dup
c.1621_1622dup (p.Pro542HisfsTer?)
c.1723_1724dup (p.Pro576HisfsTer?)
c.1663_1664dup (p.Pro556HisfsTer?)
n.3607-675_3607-674dup
n.4043-675_4043-674dup
c.1546_1547dup (p.Pro517HisfsTer?)
c.1564_1565dup (p.Pro523HisfsTer?)
c.1321_1322dup (p.Pro442HisfsTer?)
c.1354_1355dup (p.Pro453HisfsTer?)
c.1372_1373dup (p.Pro459HisfsTer?)
 ClinVar dbSNP
2g.127428939C>ACA1859576PROCc.1379C>A (p.Ala460Glu)
c.703C>A
c.1481C>A (p.Ala494Glu)
c.1562C>A (p.Ala521Glu)
c.1544C>A (p.Ala515Glu)
c.1442C>A (p.Ala481Glu)
n.1332-675G>T
c.1622C>A (p.Ala541Glu)
c.1724C>A (p.Ala575Glu)
c.1664C>A (p.Ala555Glu)
n.3607-675G>T
n.4043-675G>T
c.1547C>A (p.Ala516Glu)
c.1565C>A (p.Ala522Glu)
c.1322C>A (p.Ala441Glu)
c.1355C>A (p.Ala452Glu)
c.1373C>A (p.Ala458Glu)
 dbSNP ExAC gnomAD v2
2g.127428939C=CA1286884726PROCc.1379C= (p.Ala460=)
c.703C=
c.1481C= (p.Ala494=)
c.1562C= (p.Ala521=)
c.1544C= (p.Ala515=)
c.1442C= (p.Ala481=)
n.1332-675G=
c.1622C= (p.Ala541=)
c.1724C= (p.Ala575=)
c.1664C= (p.Ala555=)
n.3607-675G=
n.4043-675G=
c.1547C= (p.Ala516=)
c.1565C= (p.Ala522=)
c.1322C= (p.Ala441=)
c.1355C= (p.Ala452=)
c.1373C= (p.Ala458=)
2g.127428939C>GCA348406807PROCc.1379C>G (p.Ala460Gly)
c.703C>G
c.1481C>G (p.Ala494Gly)
c.1562C>G (p.Ala521Gly)
c.1544C>G (p.Ala515Gly)
c.1442C>G (p.Ala481Gly)
n.1332-675G>C
c.1622C>G (p.Ala541Gly)
c.1724C>G (p.Ala575Gly)
c.1664C>G (p.Ala555Gly)
n.3607-675G>C
n.4043-675G>C
c.1547C>G (p.Ala516Gly)
c.1565C>G (p.Ala522Gly)
c.1322C>G (p.Ala441Gly)
c.1355C>G (p.Ala452Gly)
c.1373C>G (p.Ala458Gly)
2g.127428939C>TCA348406809PROCc.1379C>T (p.Ala460Val)
c.703C>T
c.1481C>T (p.Ala494Val)
c.1562C>T (p.Ala521Val)
c.1544C>T (p.Ala515Val)
c.1442C>T (p.Ala481Val)
n.1332-675G>A
c.1622C>T (p.Ala541Val)
c.1724C>T (p.Ala575Val)
c.1664C>T (p.Ala555Val)
n.3607-675G>A
n.4043-675G>A
c.1547C>T (p.Ala516Val)
c.1565C>T (p.Ala522Val)
c.1322C>T (p.Ala441Val)
c.1355C>T (p.Ala452Val)
c.1373C>T (p.Ala458Val)
2g.127428940A>CCA428873659PROCc.1380A>C (p.Ala460=)
c.704A>C
c.1482A>C (p.Ala494=)
c.1563A>C (p.Ala521=)
c.1545A>C (p.Ala515=)
c.1443A>C (p.Ala481=)
n.1332-676T>G
c.1623A>C (p.Ala541=)
c.1725A>C (p.Ala575=)
c.1665A>C (p.Ala555=)
n.3607-676T>G
n.4043-676T>G
c.1548A>C (p.Ala516=)
c.1566A>C (p.Ala522=)
c.1323A>C (p.Ala441=)
c.1356A>C (p.Ala452=)
c.1374A>C (p.Ala458=)
2g.127428940A>GCA428873661PROCc.1380A>G (p.Ala460=)
c.704A>G
c.1482A>G (p.Ala494=)
c.1563A>G (p.Ala521=)
c.1545A>G (p.Ala515=)
c.1443A>G (p.Ala481=)
n.1332-676T>C
c.1623A>G (p.Ala541=)
c.1725A>G (p.Ala575=)
c.1665A>G (p.Ala555=)
n.3607-676T>C
n.4043-676T>C
c.1548A>G (p.Ala516=)
c.1566A>G (p.Ala522=)
c.1323A>G (p.Ala441=)
c.1356A>G (p.Ala452=)
c.1374A>G (p.Ala458=)
2g.127428940A>TCA428873663PROCc.1380A>T (p.Ala460=)
c.704A>T
c.1482A>T (p.Ala494=)
c.1563A>T (p.Ala521=)
c.1545A>T (p.Ala515=)
c.1443A>T (p.Ala481=)
n.1332-676T>A
c.1623A>T (p.Ala541=)
c.1725A>T (p.Ala575=)
c.1665A>T (p.Ala555=)
n.3607-676T>A
n.4043-676T>A
c.1548A>T (p.Ala516=)
c.1566A>T (p.Ala522=)
c.1323A>T (p.Ala441=)
c.1356A>T (p.Ala452=)
c.1374A>T (p.Ala458=)
2g.127428941C>ACA348406813PROCc.1381C>A (p.Pro461Thr)
c.705C>A
c.1483C>A (p.Pro495Thr)
c.1564C>A (p.Pro522Thr)
c.1546C>A (p.Pro516Thr)
c.1444C>A (p.Pro482Thr)
n.1332-677G>T
c.1624C>A (p.Pro542Thr)
c.1726C>A (p.Pro576Thr)
c.1666C>A (p.Pro556Thr)
n.3607-677G>T
n.4043-677G>T
c.1549C>A (p.Pro517Thr)
c.1567C>A (p.Pro523Thr)
c.1324C>A (p.Pro442Thr)
c.1357C>A (p.Pro453Thr)
c.1375C>A (p.Pro459Thr)
 gnomAD v4
2g.127428941C>GCA348406815PROCc.1381C>G (p.Pro461Ala)
c.705C>G
c.1483C>G (p.Pro495Ala)
c.1564C>G (p.Pro522Ala)
c.1546C>G (p.Pro516Ala)
c.1444C>G (p.Pro482Ala)
n.1332-677G>C
c.1624C>G (p.Pro542Ala)
c.1726C>G (p.Pro576Ala)
c.1666C>G (p.Pro556Ala)
n.3607-677G>C
n.4043-677G>C
c.1549C>G (p.Pro517Ala)
c.1567C>G (p.Pro523Ala)
c.1324C>G (p.Pro442Ala)
c.1357C>G (p.Pro453Ala)
c.1375C>G (p.Pro459Ala)
2g.127428941C>TCA348406816PROCc.1381C>T (p.Pro461Ser)
c.705C>T
c.1483C>T (p.Pro495Ser)
c.1564C>T (p.Pro522Ser)
c.1546C>T (p.Pro516Ser)
c.1444C>T (p.Pro482Ser)
n.1332-677G>A
c.1624C>T (p.Pro542Ser)
c.1726C>T (p.Pro576Ser)
c.1666C>T (p.Pro556Ser)
n.3607-677G>A
n.4043-677G>A
c.1549C>T (p.Pro517Ser)
c.1567C>T (p.Pro523Ser)
c.1324C>T (p.Pro442Ser)
c.1357C>T (p.Pro453Ser)
c.1375C>T (p.Pro459Ser)
2g.127428942C>ACA348406822PROCc.1382C>A (p.Pro461His)
c.706C>A
c.1484C>A (p.Pro495His)
c.1565C>A (p.Pro522His)
c.1547C>A (p.Pro516His)
c.1445C>A (p.Pro482His)
n.1332-678G>T
c.1625C>A (p.Pro542His)
c.1727C>A (p.Pro576His)
c.1667C>A (p.Pro556His)
n.3607-678G>T
n.4043-678G>T
c.1550C>A (p.Pro517His)
c.1568C>A (p.Pro523His)
c.1325C>A (p.Pro442His)
c.1358C>A (p.Pro453His)
c.1376C>A (p.Pro459His)
2g.127428942C=CA1286884727PROCc.1382C= (p.Pro461=)
c.706C=
c.1484C= (p.Pro495=)
c.1565C= (p.Pro522=)
c.1547C= (p.Pro516=)
c.1445C= (p.Pro482=)
n.1332-678G=
c.1625C= (p.Pro542=)
c.1727C= (p.Pro576=)
c.1667C= (p.Pro556=)
n.3607-678G=
n.4043-678G=
c.1550C= (p.Pro517=)
c.1568C= (p.Pro523=)
c.1325C= (p.Pro442=)
c.1358C= (p.Pro453=)
c.1376C= (p.Pro459=)
2g.127428942C>GCA348406823PROCc.1382C>G (p.Pro461Arg)
c.706C>G
c.1484C>G (p.Pro495Arg)
c.1565C>G (p.Pro522Arg)
c.1547C>G (p.Pro516Arg)
c.1445C>G (p.Pro482Arg)
n.1332-678G>C
c.1625C>G (p.Pro542Arg)
c.1727C>G (p.Pro576Arg)
c.1667C>G (p.Pro556Arg)
n.3607-678G>C
n.4043-678G>C
c.1550C>G (p.Pro517Arg)
c.1568C>G (p.Pro523Arg)
c.1325C>G (p.Pro442Arg)
c.1358C>G (p.Pro453Arg)
c.1376C>G (p.Pro459Arg)
2g.127428942C>TCA1859577PROCc.1382C>T (p.Pro461Leu)
c.706C>T
c.1484C>T (p.Pro495Leu)
c.1565C>T (p.Pro522Leu)
c.1547C>T (p.Pro516Leu)
c.1445C>T (p.Pro482Leu)
n.1332-678G>A
c.1625C>T (p.Pro542Leu)
c.1727C>T (p.Pro576Leu)
c.1667C>T (p.Pro556Leu)
n.3607-678G>A
n.4043-678G>A
c.1550C>T (p.Pro517Leu)
c.1568C>T (p.Pro523Leu)
c.1325C>T (p.Pro442Leu)
c.1358C>T (p.Pro453Leu)
c.1376C>T (p.Pro459Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428943T>ACA428873683PROCc.1383T>A (p.Pro461=)
c.707T>A
c.1485T>A (p.Pro495=)
c.1566T>A (p.Pro522=)
c.1548T>A (p.Pro516=)
c.1446T>A (p.Pro482=)
n.1332-679A>T
c.1626T>A (p.Pro542=)
c.1728T>A (p.Pro576=)
c.1668T>A (p.Pro556=)
n.3607-679A>T
n.4043-679A>T
c.1551T>A (p.Pro517=)
c.1569T>A (p.Pro523=)
c.1326T>A (p.Pro442=)
c.1359T>A (p.Pro453=)
c.1377T>A (p.Pro459=)
 gnomAD v4
2g.127428943T>CCA428873686PROCc.1383T>C (p.Pro461=)
c.707T>C
c.1485T>C (p.Pro495=)
c.1566T>C (p.Pro522=)
c.1548T>C (p.Pro516=)
c.1446T>C (p.Pro482=)
n.1332-679A>G
c.1626T>C (p.Pro542=)
c.1728T>C (p.Pro576=)
c.1668T>C (p.Pro556=)
n.3607-679A>G
n.4043-679A>G
c.1551T>C (p.Pro517=)
c.1569T>C (p.Pro523=)
c.1326T>C (p.Pro442=)
c.1359T>C (p.Pro453=)
c.1377T>C (p.Pro459=)
2g.127428943T>GCA428873688PROCc.1383T>G (p.Pro461=)
c.707T>G
c.1485T>G (p.Pro495=)
c.1566T>G (p.Pro522=)
c.1548T>G (p.Pro516=)
c.1446T>G (p.Pro482=)
n.1332-679A>C
c.1626T>G (p.Pro542=)
c.1728T>G (p.Pro576=)
c.1668T>G (p.Pro556=)
n.3607-679A>C
n.4043-679A>C
c.1551T>G (p.Pro517=)
c.1569T>G (p.Pro523=)
c.1326T>G (p.Pro442=)
c.1359T>G (p.Pro453=)
c.1377T>G (p.Pro459=)
 dbSNP gnomAD v2 gnomAD v4
2g.127428943T=CA1286884728PROCc.1383T= (p.Pro461=)
c.707T=
c.1485T= (p.Pro495=)
c.1566T= (p.Pro522=)
c.1548T= (p.Pro516=)
c.1446T= (p.Pro482=)
n.1332-679A=
c.1626T= (p.Pro542=)
c.1728T= (p.Pro576=)
c.1668T= (p.Pro556=)
n.3607-679A=
n.4043-679A=
c.1551T= (p.Pro517=)
c.1569T= (p.Pro523=)
c.1326T= (p.Pro442=)
c.1359T= (p.Pro453=)
c.1377T= (p.Pro459=)
2g.127428944T>ACA348406826PROCc.1384T>A (p.Ter462Lys)
c.708T>A
c.1486T>A (p.Ter496Lys)
c.1567T>A (p.Ter523Lys)
c.1549T>A (p.Ter517Lys)
c.1447T>A (p.Ter483Lys)
n.1332-680A>T
c.1627T>A (p.Ter543Lys)
c.1729T>A (p.Ter577Lys)
c.1669T>A (p.Ter557Lys)
n.3607-680A>T
n.4043-680A>T
c.1552T>A (p.Ter518Lys)
c.1570T>A (p.Ter524Lys)
c.1327T>A (p.Ter443Lys)
c.1360T>A (p.Ter454Lys)
c.1378T>A (p.Ter460Lys)
2g.127428944T>CCA1859578PROCc.1384T>C (p.Ter462Gln)
c.708T>C
c.1486T>C (p.Ter496Gln)
c.1567T>C (p.Ter523Gln)
c.1549T>C (p.Ter517Gln)
c.1447T>C (p.Ter483Gln)
n.1332-680A>G
c.1627T>C (p.Ter543Gln)
c.1729T>C (p.Ter577Gln)
c.1669T>C (p.Ter557Gln)
n.3607-680A>G
n.4043-680A>G
c.1552T>C (p.Ter518Gln)
c.1570T>C (p.Ter524Gln)
c.1327T>C (p.Ter443Gln)
c.1360T>C (p.Ter454Gln)
c.1378T>C (p.Ter460Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127428944T>GCA348406830PROCc.1384T>G (p.Ter462Glu)
c.708T>G
c.1486T>G (p.Ter496Glu)
c.1567T>G (p.Ter523Glu)
c.1549T>G (p.Ter517Glu)
c.1447T>G (p.Ter483Glu)
n.1332-680A>C
c.1627T>G (p.Ter543Glu)
c.1729T>G (p.Ter577Glu)
c.1669T>G (p.Ter557Glu)
n.3607-680A>C
n.4043-680A>C
c.1552T>G (p.Ter518Glu)
c.1570T>G (p.Ter524Glu)
c.1327T>G (p.Ter443Glu)
c.1360T>G (p.Ter454Glu)
c.1378T>G (p.Ter460Glu)
2g.127428944T=CA1286884729PROCc.1384T= (p.Ter462=)
c.708T=
c.1486T= (p.Ter496=)
c.1567T= (p.Ter523=)
c.1549T= (p.Ter517=)
c.1447T= (p.Ter483=)
n.1332-680A=
c.1627T= (p.Ter543=)
c.1729T= (p.Ter577=)
c.1669T= (p.Ter557=)
n.3607-680A=
n.4043-680A=
c.1552T= (p.Ter518=)
c.1570T= (p.Ter524=)
c.1327T= (p.Ter443=)
c.1360T= (p.Ter454=)
c.1378T= (p.Ter460=)
2g.127428945A>CCA348406833PROCc.1385A>C (p.Ter462Ser)
c.709A>C
c.1487A>C (p.Ter496Ser)
c.1568A>C (p.Ter523Ser)
c.1550A>C (p.Ter517Ser)
c.1448A>C (p.Ter483Ser)
n.1332-681T>G
c.1628A>C (p.Ter543Ser)
c.1730A>C (p.Ter577Ser)
c.1670A>C (p.Ter557Ser)
n.3607-681T>G
n.4043-681T>G
c.1553A>C (p.Ter518Ser)
c.1571A>C (p.Ter524Ser)
c.1328A>C (p.Ter443Ser)
c.1361A>C (p.Ter454Ser)
c.1379A>C (p.Ter460Ser)
2g.127428945A>GCA348406834PROCc.1385A>G (p.Ter462Trp)
c.709A>G
c.1487A>G (p.Ter496Trp)
c.1568A>G (p.Ter523Trp)
c.1550A>G (p.Ter517Trp)
c.1448A>G (p.Ter483Trp)
n.1332-681T>C
c.1628A>G (p.Ter543Trp)
c.1730A>G (p.Ter577Trp)
c.1670A>G (p.Ter557Trp)
n.3607-681T>C
n.4043-681T>C
c.1553A>G (p.Ter518Trp)
c.1571A>G (p.Ter524Trp)
c.1328A>G (p.Ter443Trp)
c.1361A>G (p.Ter454Trp)
c.1379A>G (p.Ter460Trp)
2g.127428945A>TCA348406836PROCc.1385A>T (p.Ter462Leu)
c.709A>T
c.1487A>T (p.Ter496Leu)
c.1568A>T (p.Ter523Leu)
c.1550A>T (p.Ter517Leu)
c.1448A>T (p.Ter483Leu)
n.1332-681T>A
c.1628A>T (p.Ter543Leu)
c.1730A>T (p.Ter577Leu)
c.1670A>T (p.Ter557Leu)
n.3607-681T>A
n.4043-681T>A
c.1553A>T (p.Ter518Leu)
c.1571A>T (p.Ter524Leu)
c.1328A>T (p.Ter443Leu)
c.1361A>T (p.Ter454Leu)
c.1379A>T (p.Ter460Leu)
2g.127428946G>ACA428873700PROCc.1386G>A (p.Ter462=)
c.710G>A
c.1488G>A (p.Ter496=)
c.1569G>A (p.Ter523=)
c.1551G>A (p.Ter517=)
c.1449G>A (p.Ter483=)
n.1332-682C>T
c.1629G>A (p.Ter543=)
c.1731G>A (p.Ter577=)
c.1671G>A (p.Ter557=)
n.3607-682C>T
n.4043-682C>T
c.1554G>A (p.Ter518=)
c.1572G>A (p.Ter524=)
c.1329G>A (p.Ter443=)
c.1362G>A (p.Ter454=)
c.1380G>A (p.Ter460=)
2g.127428946G>CCA348406838PROCc.1386G>C (p.Ter462Tyr)
c.710G>C
c.1488G>C (p.Ter496Tyr)
c.1569G>C (p.Ter523Tyr)
c.1551G>C (p.Ter517Tyr)
c.1449G>C (p.Ter483Tyr)
n.1332-682C>G
c.1629G>C (p.Ter543Tyr)
c.1731G>C (p.Ter577Tyr)
c.1671G>C (p.Ter557Tyr)
n.3607-682C>G
n.4043-682C>G
c.1554G>C (p.Ter518Tyr)
c.1572G>C (p.Ter524Tyr)
c.1329G>C (p.Ter443Tyr)
c.1362G>C (p.Ter454Tyr)
c.1380G>C (p.Ter460Tyr)
2g.127428946G>TCA348406841PROCc.1386G>T (p.Ter462Tyr)
c.710G>T
c.1488G>T (p.Ter496Tyr)
c.1569G>T (p.Ter523Tyr)
c.1551G>T (p.Ter517Tyr)
c.1449G>T (p.Ter483Tyr)
n.1332-682C>A
c.1629G>T (p.Ter543Tyr)
c.1731G>T (p.Ter577Tyr)
c.1671G>T (p.Ter557Tyr)
n.3607-682C>A
n.4043-682C>A
c.1554G>T (p.Ter518Tyr)
c.1572G>T (p.Ter524Tyr)
c.1329G>T (p.Ter443Tyr)
c.1362G>T (p.Ter454Tyr)
c.1380G>T (p.Ter460Tyr)
2g.127428947C=CA1286884730PROCc.*1C= (n.*1C=)
c.711C=
n.1332-683G=
n.3607-683G=
n.4043-683G=
2g.127428947C>TCA1859579PROCc.*1C>T (n.*1C>T)
c.711C>T
n.1332-683G>A
n.3607-683G>A
n.4043-683G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428948G>ACA55351640PROCc.*2G>A (n.*2G>A)
c.712G>A
n.1332-684C>T
n.3607-684C>T
n.4043-684C>T
 dbSNP gnomAD v2 gnomAD v4
2g.127428948G>CCA2660997786PROCc.*2G>C (n.*2G>C)
c.712G>C
n.1332-684C>G
n.3607-684C>G
n.4043-684C>G
 gnomAD v4
2g.127428948G=CA1286884731PROCc.*2G= (n.*2G=)
c.712G=
n.1332-684C=
n.3607-684C=
n.4043-684C=
2g.127428948G>TCA2660997787PROCc.*2G>T (n.*2G>T)
c.712G>T
n.1332-684C>A
n.3607-684C>A
n.4043-684C>A
 gnomAD v4
2g.127428949A=CA1286884732PROCc.*3A= (n.*3A=)
c.713A=
n.1332-685T=
n.3607-685T=
n.4043-685T=
2g.127428949A>GCA1286884733PROCc.*3A>G (n.*3A>G)
c.713A>G
n.1332-685T>C
n.3607-685T>C
n.4043-685T>C
 dbSNP gnomAD v4
2g.127428950C>ACA536067740PROCc.*4C>A (n.*4C>A)
c.714C>A
n.1332-686G>T
n.3607-686G>T
n.4043-686G>T
 dbSNP gnomAD v2 gnomAD v4
2g.127428950C=CA1286884734PROCc.*4C= (n.*4C=)
c.714C=
n.1332-686G=
n.3607-686G=
n.4043-686G=
2g.127428950C>TCA1286884735PROCc.*4C>T (n.*4C>T)
c.714C>T
n.1332-686G>A
n.3607-686G>A
n.4043-686G>A
 dbSNP
2g.127428952dupCA2660997788PROCc.*6dup (n.*6dup)
c.716dup
n.1332-686dup
n.3607-686dup
n.4043-686dup
 gnomAD v4
2g.127428951C>ACA2660997789PROCc.*5C>A (n.*5C>A)
c.715C>A
n.1332-687G>T
n.3607-687G>T
n.4043-687G>T
 gnomAD v4
2g.127428951C=CA1286884736PROCc.*5C= (n.*5C=)
c.715C=
n.1332-687G=
n.3607-687G=
n.4043-687G=
2g.127428951C>TCA1859580PROCc.*5C>T (n.*5C>T)
c.715C>T
n.1332-687G>A
n.3607-687G>A
n.4043-687G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428952C>ACA2577090360PROCc.*6C>A (n.*6C>A)
c.716C>A
n.1332-688G>T
n.3607-688G>T
n.4043-688G>T
2g.127428953T>ACA1286884737PROCc.*7T>A (n.*7T>A)
c.717T>A
n.1332-689A>T
n.3607-689A>T
n.4043-689A>T
 dbSNP gnomAD v4
2g.127428953T=CA1286884738PROCc.*7T= (n.*7T=)
c.717T=
n.1332-689A=
n.3607-689A=
n.4043-689A=

Number of alleles fetched