Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=
2g.127428957T>CCA2660997790PROCc.*11T>C (n.*11T>C)
c.721T>C
n.1332-693A>G
n.3607-693A>G
n.4043-693A>G
 gnomAD v4
2g.127428960A=CA1286884739PROCc.*14A= (n.*14A=)
c.724A=
n.1332-696T=
n.3607-696T=
n.4043-696T=
2g.127428960A>CCA1036160583PROCc.*14A>C (n.*14A>C)
c.724A>C
n.1332-696T>G
n.3607-696T>G
n.4043-696T>G
 dbSNP gnomAD v3 gnomAD v4
2g.127428960A>GCA55351642PROCc.*14A>G (n.*14A>G)
c.724A>G
n.1332-696T>C
n.3607-696T>C
n.4043-696T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428961G>ACA1286884741PROCc.*15G>A (n.*15G>A)
c.725G>A
n.1332-697C>T
n.3607-697C>T
n.4043-697C>T
 dbSNP
2g.127428961G=CA1286884740PROCc.*15G= (n.*15G=)
c.725G=
n.1332-697C=
n.3607-697C=
n.4043-697C=
2g.127428961G>TCA2660997791PROCc.*15G>T (n.*15G>T)
c.725G>T
n.1332-697C>A
n.3607-697C>A
n.4043-697C>A
 gnomAD v4
2g.127428962G=CA1286884742PROCc.*16G= (n.*16G=)
c.726G=
n.1332-698C=
n.3607-698C=
n.4043-698C=
2g.127428962G>TCA536067741PROCc.*16G>T (n.*16G>T)
c.726G>T
n.1332-698C>A
n.3607-698C>A
n.4043-698C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428966G>ACA1859581PROCc.*20G>A (n.*20G>A)
c.730G>A
n.1332-702C>T
n.3607-702C>T
n.4043-702C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428966G>CCA2660997792PROCc.*20G>C (n.*20G>C)
c.730G>C
n.1332-702C>G
n.3607-702C>G
n.4043-702C>G
 gnomAD v4
2g.127428966G=CA1286884743PROCc.*20G= (n.*20G=)
c.730G=
n.1332-702C=
n.3607-702C=
n.4043-702C=
2g.127428967G>ACA756631637PROCc.*21G>A (n.*21G>A)
c.731G>A
n.1332-703C>T
n.3607-703C>T
n.4043-703C>T
 dbSNP gnomAD v4
2g.127428967G=CA1286884744PROCc.*21G= (n.*21G=)
c.731G=
n.1332-703C=
n.3607-703C=
n.4043-703C=
2g.127428967G>TCA55351653PROCc.*21G>T (n.*21G>T)
c.731G>T
n.1332-703C>A
n.3607-703C>A
n.4043-703C>A
 dbSNP gnomAD v4
2g.127428968G>TCA2660997793PROCc.*22G>T (n.*22G>T)
c.732G>T
n.1332-704C>A
n.3607-704C>A
n.4043-704C>A
 gnomAD v4
2g.127428970T>CCA2577090361PROCc.*24T>C (n.*24T>C)
c.734T>C
n.1332-706A>G
n.3607-706A>G
n.4043-706A>G
2g.127428973T>CCA2700552754PROCc.*27T>C (n.*27T>C)
c.737T>C
n.1332-709A>G
n.3607-709A>G
n.4043-709A>G
 dbSNP
2g.127428976A=CA1286884745PROCc.*30A= (n.*30A=)
c.740A=
n.1332-712T=
n.3607-712T=
n.4043-712T=
2g.127428976A>GCA536067742PROCc.*30A>G (n.*30A>G)
c.740A>G
n.1332-712T>C
n.3607-712T>C
n.4043-712T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428977T>CCA536067743PROCc.*31T>C (n.*31T>C)
c.741T>C
n.1332-713A>G
n.3607-713A>G
n.4043-713A>G
 dbSNP gnomAD v2 gnomAD v4
2g.127428977T=CA1286884746PROCc.*31T= (n.*31T=)
c.741T=
n.1332-713A=
n.3607-713A=
n.4043-713A=
2g.127428977_127428978insACA647164205PROCc.*31_*32insA (n.*31_*32insA)
c.741_742insA
n.1332-714_1332-713insT
n.3607-714_3607-713insT
n.4043-714_4043-713insT
 COSMIC
2g.127428978G>ACA1859582PROCc.*32G>A (n.*32G>A)
c.742G>A
n.1332-714C>T
n.3607-714C>T
n.4043-714C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428978G=CA1286884747PROCc.*32G= (n.*32G=)
c.742G=
n.1332-714C=
n.3607-714C=
n.4043-714C=
2g.127428978G>TCA536067744PROCc.*32G>T (n.*32G>T)
c.742G>T
n.1332-714C>A
n.3607-714C>A
n.4043-714C>A
 dbSNP gnomAD v2 gnomAD v4
2g.127428979G>ACA2577090362PROCc.*33G>A (n.*33G>A)
c.743G>A
n.1332-715C>T
n.3607-715C>T
n.4043-715C>T
2g.127428980C>TCA2660997794PROCc.*34C>T (n.*34C>T)
c.744C>T
n.1332-716G>A
n.3607-716G>A
n.4043-716G>A
 gnomAD v4
2g.127428981A>GCA2577090363PROCc.*35A>G (n.*35A>G)
c.745A>G
n.1332-717T>C
n.3607-717T>C
n.4043-717T>C
2g.127428982A>CCA2577090364PROCc.*36A>C (n.*36A>C)
c.746A>C
n.1332-718T>G
n.3607-718T>G
n.4043-718T>G
2g.127428982A>GCA2660997795PROCc.*36A>G (n.*36A>G)
c.746A>G
n.1332-718T>C
n.3607-718T>C
n.4043-718T>C
 gnomAD v4
2g.127428983T>CCA2660997796PROCc.*37T>C (n.*37T>C)
c.747T>C
n.1332-719A>G
n.3607-719A>G
n.4043-719A>G
 gnomAD v4
2g.127428985G>TCA2660997797PROCc.*39G>T (n.*39G>T)
c.749G>T
n.1332-721C>A
n.3607-721C>A
n.4043-721C>A
 gnomAD v4
2g.127428986A>TCA2660997798PROCc.*40A>T (n.*40A>T)
c.750A>T
n.1332-722T>A
n.3607-722T>A
n.4043-722T>A
 gnomAD v4
2g.127428989G>ACA1859583PROCc.*43G>A (n.*43G>A)
c.753G>A
n.1332-725C>T
n.3607-725C>T
n.4043-725C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127428989G=CA1286884748PROCc.*43G= (n.*43G=)
c.753G=
n.1332-725C=
n.3607-725C=
n.4043-725C=
2g.127428990G>CCA2660997799PROCc.*44G>C (n.*44G>C)
c.754G>C
n.1332-726C>G
n.3607-726C>G
n.4043-726C>G
 gnomAD v4
2g.127428991A>GCA2660997800PROCc.*45A>G (n.*45A>G)
c.755A>G
n.1332-727T>C
n.3607-727T>C
n.4043-727T>C
 gnomAD v4
2g.127428992C>ACA1286884750PROCc.*46C>A (n.*46C>A)
c.756C>A
n.1332-728G>T
n.3607-728G>T
n.4043-728G>T
 dbSNP
2g.127428992C=CA1286884749PROCc.*46C= (n.*46C=)
c.756C=
n.1332-728G=
n.3607-728G=
n.4043-728G=
2g.127428994T>CCA536067745PROCc.*48T>C (n.*48T>C)
c.758T>C
n.1332-730A>G
n.3607-730A>G
n.4043-730A>G
 dbSNP gnomAD v2 gnomAD v4
2g.127428994T=CA1286884751PROCc.*48T= (n.*48T=)
c.758T=
n.1332-730A=
n.3607-730A=
n.4043-730A=

Number of alleles fetched