Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74181360T>ACA393129404STRA6c.1619A>T (p.Asn540Ile)
c.1595A>T (p.Asn532Ile)
c.1592A>T (p.Asn531Ile)
c.1730A>T (p.Asn577Ile)
n.1328A>T
c.1736A>T (p.Asn579Ile)
c.474A>T
c.1664A>T (p.Asn555Ile)
n.1891A>T
c.1430A>T (p.Asn477Ile)
c.1667A>T (p.Asn556Ile)
15g.74181360T>CCA393129402STRA6c.1619A>G (p.Asn540Ser)
c.1595A>G (p.Asn532Ser)
c.1592A>G (p.Asn531Ser)
c.1730A>G (p.Asn577Ser)
n.1328A>G
c.1736A>G (p.Asn579Ser)
c.474A>G
c.1664A>G (p.Asn555Ser)
n.1891A>G
c.1430A>G (p.Asn477Ser)
c.1667A>G (p.Asn556Ser)
15g.74181360T>GCA393129403STRA6c.1619A>C (p.Asn540Thr)
c.1595A>C (p.Asn532Thr)
c.1592A>C (p.Asn531Thr)
c.1730A>C (p.Asn577Thr)
n.1328A>C
c.1736A>C (p.Asn579Thr)
c.474A>C
c.1664A>C (p.Asn555Thr)
n.1891A>C
c.1430A>C (p.Asn477Thr)
c.1667A>C (p.Asn556Thr)
15g.74181361T>ACA393129405STRA6c.1618A>T (p.Asn540Tyr)
c.1594A>T (p.Asn532Tyr)
c.1591A>T (p.Asn531Tyr)
c.1729A>T (p.Asn577Tyr)
n.1327A>T
c.1735A>T (p.Asn579Tyr)
c.473A>T
c.1663A>T (p.Asn555Tyr)
n.1890A>T
c.1429A>T (p.Asn477Tyr)
c.1666A>T (p.Asn556Tyr)
15g.74181361T>CCA393129406STRA6c.1618A>G (p.Asn540Asp)
c.1594A>G (p.Asn532Asp)
c.1591A>G (p.Asn531Asp)
c.1729A>G (p.Asn577Asp)
n.1327A>G
c.1735A>G (p.Asn579Asp)
c.473A>G
c.1663A>G (p.Asn555Asp)
n.1890A>G
c.1429A>G (p.Asn477Asp)
c.1666A>G (p.Asn556Asp)
15g.74181361T>GCA393129407STRA6c.1618A>C (p.Asn540His)
c.1594A>C (p.Asn532His)
c.1591A>C (p.Asn531His)
c.1729A>C (p.Asn577His)
n.1327A>C
c.1735A>C (p.Asn579His)
c.473A>C
c.1663A>C (p.Asn555His)
n.1890A>C
c.1429A>C (p.Asn477His)
c.1666A>C (p.Asn556His)
dbSNP
15g.74181361T=CA2187550300STRA6c.1618A= (p.Asn540=)
c.1594A= (p.Asn532=)
c.1591A= (p.Asn531=)
c.1729A= (p.Asn577=)
n.1327A=
c.1735A= (p.Asn579=)
c.473A=
c.1663A= (p.Asn555=)
n.1890A=
c.1429A= (p.Asn477=)
c.1666A= (p.Asn556=)
15g.74181362G>ACA491170998STRA6c.1617C>T (p.Tyr539=)
c.1593C>T (p.Tyr531=)
c.1590C>T (p.Tyr530=)
c.1728C>T (p.Tyr576=)
n.1326C>T
c.1734C>T (p.Tyr578=)
c.472C>T
c.1662C>T (p.Tyr554=)
n.1889C>T
c.1428C>T (p.Tyr476=)
c.1665C>T (p.Tyr555=)
15g.74181362G>CCA393129408STRA6c.1617C>G (p.Tyr539Ter)
c.1593C>G (p.Tyr531Ter)
c.1590C>G (p.Tyr530Ter)
c.1728C>G (p.Tyr576Ter)
n.1326C>G
c.1734C>G (p.Tyr578Ter)
c.472C>G
c.1662C>G (p.Tyr554Ter)
n.1889C>G
c.1428C>G (p.Tyr476Ter)
c.1665C>G (p.Tyr555Ter)
15g.74181362G>TCA393129409STRA6c.1617C>A (p.Tyr539Ter)
c.1593C>A (p.Tyr531Ter)
c.1590C>A (p.Tyr530Ter)
c.1728C>A (p.Tyr576Ter)
n.1326C>A
c.1734C>A (p.Tyr578Ter)
c.472C>A
c.1662C>A (p.Tyr554Ter)
n.1889C>A
c.1428C>A (p.Tyr476Ter)
c.1665C>A (p.Tyr555Ter)
15g.74181363T>ACA393129412STRA6c.1616A>T (p.Tyr539Phe)
c.1592A>T (p.Tyr531Phe)
c.1589A>T (p.Tyr530Phe)
c.1727A>T (p.Tyr576Phe)
n.1325A>T
c.1733A>T (p.Tyr578Phe)
c.471A>T
c.1661A>T (p.Tyr554Phe)
n.1888A>T
c.1427A>T (p.Tyr476Phe)
c.1664A>T (p.Tyr555Phe)
15g.74181363T>CCA393129410STRA6c.1616A>G (p.Tyr539Cys)
c.1592A>G (p.Tyr531Cys)
c.1589A>G (p.Tyr530Cys)
c.1727A>G (p.Tyr576Cys)
n.1325A>G
c.1733A>G (p.Tyr578Cys)
c.471A>G
c.1661A>G (p.Tyr554Cys)
n.1888A>G
c.1427A>G (p.Tyr476Cys)
c.1664A>G (p.Tyr555Cys)
15g.74181363T>GCA393129411STRA6c.1616A>C (p.Tyr539Ser)
c.1592A>C (p.Tyr531Ser)
c.1589A>C (p.Tyr530Ser)
c.1727A>C (p.Tyr576Ser)
n.1325A>C
c.1733A>C (p.Tyr578Ser)
c.471A>C
c.1661A>C (p.Tyr554Ser)
n.1888A>C
c.1427A>C (p.Tyr476Ser)
c.1664A>C (p.Tyr555Ser)
15g.74181364A>CCA393129413STRA6c.1615T>G (p.Tyr539Asp)
c.1591T>G (p.Tyr531Asp)
c.1588T>G (p.Tyr530Asp)
c.1726T>G (p.Tyr576Asp)
n.1324T>G
c.1732T>G (p.Tyr578Asp)
c.470T>G
c.1660T>G (p.Tyr554Asp)
n.1887T>G
c.1426T>G (p.Tyr476Asp)
c.1663T>G (p.Tyr555Asp)
15g.74181364A>GCA393129414STRA6c.1615T>C (p.Tyr539His)
c.1591T>C (p.Tyr531His)
c.1588T>C (p.Tyr530His)
c.1726T>C (p.Tyr576His)
n.1324T>C
c.1732T>C (p.Tyr578His)
c.470T>C
c.1660T>C (p.Tyr554His)
n.1887T>C
c.1426T>C (p.Tyr476His)
c.1663T>C (p.Tyr555His)
15g.74181364A>TCA393129415STRA6c.1615T>A (p.Tyr539Asn)
c.1591T>A (p.Tyr531Asn)
c.1588T>A (p.Tyr530Asn)
c.1726T>A (p.Tyr576Asn)
n.1324T>A
c.1732T>A (p.Tyr578Asn)
c.470T>A
c.1660T>A (p.Tyr554Asn)
n.1887T>A
c.1426T>A (p.Tyr476Asn)
c.1663T>A (p.Tyr555Asn)
15g.74181365G>ACA491171009STRA6c.1614C>T (p.Leu538=)
c.1590C>T (p.Leu530=)
c.1587C>T (p.Leu529=)
c.1725C>T (p.Leu575=)
n.1323C>T
c.1731C>T (p.Leu577=)
c.469C>T
c.1659C>T (p.Leu553=)
n.1886C>T
c.1425C>T (p.Leu475=)
c.1662C>T (p.Leu554=)
dbSNP gnomAD v4
15g.74181365G>CCA491171011STRA6c.1614C>G (p.Leu538=)
c.1590C>G (p.Leu530=)
c.1587C>G (p.Leu529=)
c.1725C>G (p.Leu575=)
n.1323C>G
c.1731C>G (p.Leu577=)
c.469C>G
c.1659C>G (p.Leu553=)
n.1886C>G
c.1425C>G (p.Leu475=)
c.1662C>G (p.Leu554=)
15g.74181365G=CA2187550301STRA6c.1614C= (p.Leu538=)
c.1590C= (p.Leu530=)
c.1587C= (p.Leu529=)
c.1725C= (p.Leu575=)
n.1323C=
c.1731C= (p.Leu577=)
c.469C=
c.1659C= (p.Leu553=)
n.1886C=
c.1425C= (p.Leu475=)
c.1662C= (p.Leu554=)
15g.74181365G>TCA491171012STRA6c.1614C>A (p.Leu538=)
c.1590C>A (p.Leu530=)
c.1587C>A (p.Leu529=)
c.1725C>A (p.Leu575=)
n.1323C>A
c.1731C>A (p.Leu577=)
c.469C>A
c.1659C>A (p.Leu553=)
n.1886C>A
c.1425C>A (p.Leu475=)
c.1662C>A (p.Leu554=)
15g.74181366A>CCA393129416STRA6c.1613T>G (p.Leu538Arg)
c.1589T>G (p.Leu530Arg)
c.1586T>G (p.Leu529Arg)
c.1724T>G (p.Leu575Arg)
n.1322T>G
c.1730T>G (p.Leu577Arg)
c.468T>G
c.1658T>G (p.Leu553Arg)
n.1885T>G
c.1424T>G (p.Leu475Arg)
c.1661T>G (p.Leu554Arg)
15g.74181366A>GCA393129417STRA6c.1613T>C (p.Leu538Pro)
c.1589T>C (p.Leu530Pro)
c.1586T>C (p.Leu529Pro)
c.1724T>C (p.Leu575Pro)
n.1322T>C
c.1730T>C (p.Leu577Pro)
c.468T>C
c.1658T>C (p.Leu553Pro)
n.1885T>C
c.1424T>C (p.Leu475Pro)
c.1661T>C (p.Leu554Pro)
15g.74181366A>TCA393129418STRA6c.1613T>A (p.Leu538His)
c.1589T>A (p.Leu530His)
c.1586T>A (p.Leu529His)
c.1724T>A (p.Leu575His)
n.1322T>A
c.1730T>A (p.Leu577His)
c.468T>A
c.1658T>A (p.Leu553His)
n.1885T>A
c.1424T>A (p.Leu475His)
c.1661T>A (p.Leu554His)
15g.74181367G>ACA7654506STRA6c.1612C>T (p.Leu538Phe)
c.1588C>T (p.Leu530Phe)
c.1585C>T (p.Leu529Phe)
c.1723C>T (p.Leu575Phe)
n.1321C>T
c.1729C>T (p.Leu577Phe)
c.467C>T
c.1657C>T (p.Leu553Phe)
n.1884C>T
c.1423C>T (p.Leu475Phe)
c.1660C>T (p.Leu554Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181367G>CCA393129419STRA6c.1612C>G (p.Leu538Val)
c.1588C>G (p.Leu530Val)
c.1585C>G (p.Leu529Val)
c.1723C>G (p.Leu575Val)
n.1321C>G
c.1729C>G (p.Leu577Val)
c.467C>G
c.1657C>G (p.Leu553Val)
n.1884C>G
c.1423C>G (p.Leu475Val)
c.1660C>G (p.Leu554Val)
dbSNP gnomAD v4
15g.74181367G=CA2187550302STRA6c.1612C= (p.Leu538=)
c.1588C= (p.Leu530=)
c.1585C= (p.Leu529=)
c.1723C= (p.Leu575=)
n.1321C=
c.1729C= (p.Leu577=)
c.467C=
c.1657C= (p.Leu553=)
n.1884C=
c.1423C= (p.Leu475=)
c.1660C= (p.Leu554=)
15g.74181367G>TCA393129420STRA6c.1612C>A (p.Leu538Ile)
c.1588C>A (p.Leu530Ile)
c.1585C>A (p.Leu529Ile)
c.1723C>A (p.Leu575Ile)
n.1321C>A
c.1729C>A (p.Leu577Ile)
c.467C>A
c.1657C>A (p.Leu553Ile)
n.1884C>A
c.1423C>A (p.Leu475Ile)
c.1660C>A (p.Leu554Ile)
gnomAD v4
15g.74181368G>ACA491171021STRA6c.1611C>T (p.Ala537=)
c.1587C>T (p.Ala529=)
c.1584C>T (p.Ala528=)
c.1722C>T (p.Ala574=)
n.1320C>T
c.1728C>T (p.Ala576=)
c.466C>T
c.1656C>T (p.Ala552=)
n.1883C>T
c.1422C>T (p.Ala474=)
c.1659C>T (p.Ala553=)
dbSNP gnomAD v2 gnomAD v4
15g.74181368G>CCA491171022STRA6c.1611C>G (p.Ala537=)
c.1587C>G (p.Ala529=)
c.1584C>G (p.Ala528=)
c.1722C>G (p.Ala574=)
n.1320C>G
c.1728C>G (p.Ala576=)
c.466C>G
c.1656C>G (p.Ala552=)
n.1883C>G
c.1422C>G (p.Ala474=)
c.1659C>G (p.Ala553=)
15g.74181368G=CA2187550303STRA6c.1611C= (p.Ala537=)
c.1587C= (p.Ala529=)
c.1584C= (p.Ala528=)
c.1722C= (p.Ala574=)
n.1320C=
c.1728C= (p.Ala576=)
c.466C=
c.1656C= (p.Ala552=)
n.1883C=
c.1422C= (p.Ala474=)
c.1659C= (p.Ala553=)
15g.74181368G>TCA491171023STRA6c.1611C>A (p.Ala537=)
c.1587C>A (p.Ala529=)
c.1584C>A (p.Ala528=)
c.1722C>A (p.Ala574=)
n.1320C>A
c.1728C>A (p.Ala576=)
c.466C>A
c.1656C>A (p.Ala552=)
n.1883C>A
c.1422C>A (p.Ala474=)
c.1659C>A (p.Ala553=)
gnomAD v4
15g.74181369G>ACA393129421STRA6c.1610C>T (p.Ala537Val)
c.1586C>T (p.Ala529Val)
c.1583C>T (p.Ala528Val)
c.1721C>T (p.Ala574Val)
n.1319C>T
c.1727C>T (p.Ala576Val)
c.465C>T
c.1655C>T (p.Ala552Val)
n.1882C>T
c.1421C>T (p.Ala474Val)
c.1658C>T (p.Ala553Val)
gnomAD v4
15g.74181369G>CCA393129422STRA6c.1610C>G (p.Ala537Gly)
c.1586C>G (p.Ala529Gly)
c.1583C>G (p.Ala528Gly)
c.1721C>G (p.Ala574Gly)
n.1319C>G
c.1727C>G (p.Ala576Gly)
c.465C>G
c.1655C>G (p.Ala552Gly)
n.1882C>G
c.1421C>G (p.Ala474Gly)
c.1658C>G (p.Ala553Gly)
15g.74181369G>TCA393129423STRA6c.1610C>A (p.Ala537Asp)
c.1586C>A (p.Ala529Asp)
c.1583C>A (p.Ala528Asp)
c.1721C>A (p.Ala574Asp)
n.1319C>A
c.1727C>A (p.Ala576Asp)
c.465C>A
c.1655C>A (p.Ala552Asp)
n.1882C>A
c.1421C>A (p.Ala474Asp)
c.1658C>A (p.Ala553Asp)
15g.74181370C>ACA393129424STRA6c.1609G>T (p.Ala537Ser)
c.1585G>T (p.Ala529Ser)
c.1582G>T (p.Ala528Ser)
c.1720G>T (p.Ala574Ser)
n.1318G>T
c.1726G>T (p.Ala576Ser)
c.464G>T
c.1654G>T (p.Ala552Ser)
n.1881G>T
c.1420G>T (p.Ala474Ser)
c.1657G>T (p.Ala553Ser)
15g.74181370C>GCA393129426STRA6c.1609G>C (p.Ala537Pro)
c.1585G>C (p.Ala529Pro)
c.1582G>C (p.Ala528Pro)
c.1720G>C (p.Ala574Pro)
n.1318G>C
c.1726G>C (p.Ala576Pro)
c.464G>C
c.1654G>C (p.Ala552Pro)
n.1881G>C
c.1420G>C (p.Ala474Pro)
c.1657G>C (p.Ala553Pro)
15g.74181370C>TCA393129425STRA6c.1609G>A (p.Ala537Thr)
c.1585G>A (p.Ala529Thr)
c.1582G>A (p.Ala528Thr)
c.1720G>A (p.Ala574Thr)
n.1318G>A
c.1726G>A (p.Ala576Thr)
c.464G>A
c.1654G>A (p.Ala552Thr)
n.1881G>A
c.1420G>A (p.Ala474Thr)
c.1657G>A (p.Ala553Thr)
15g.74181371A>CCA491171031STRA6c.1608T>G (p.Ser536=)
c.1584T>G (p.Ser528=)
c.1581T>G (p.Ser527=)
c.1719T>G (p.Ser573=)
n.1317T>G
c.1725T>G (p.Ser575=)
c.463T>G
c.1653T>G (p.Ser551=)
n.1880T>G
c.1419T>G (p.Ser473=)
c.1656T>G (p.Ser552=)
15g.74181371A>GCA491171033STRA6c.1608T>C (p.Ser536=)
c.1584T>C (p.Ser528=)
c.1581T>C (p.Ser527=)
c.1719T>C (p.Ser573=)
n.1317T>C
c.1725T>C (p.Ser575=)
c.463T>C
c.1653T>C (p.Ser551=)
n.1880T>C
c.1419T>C (p.Ser473=)
c.1656T>C (p.Ser552=)
15g.74181371A>TCA491171034STRA6c.1608T>A (p.Ser536=)
c.1584T>A (p.Ser528=)
c.1581T>A (p.Ser527=)
c.1719T>A (p.Ser573=)
n.1317T>A
c.1725T>A (p.Ser575=)
c.463T>A
c.1653T>A (p.Ser551=)
n.1880T>A
c.1419T>A (p.Ser473=)
c.1656T>A (p.Ser552=)
15g.74181372G>ACA393129427STRA6c.1607C>T (p.Ser536Phe)
c.1583C>T (p.Ser528Phe)
c.1580C>T (p.Ser527Phe)
c.1718C>T (p.Ser573Phe)
n.1316C>T
c.1724C>T (p.Ser575Phe)
c.462C>T
c.1652C>T (p.Ser551Phe)
n.1879C>T
c.1418C>T (p.Ser473Phe)
c.1655C>T (p.Ser552Phe)
15g.74181372G>CCA393129428STRA6c.1607C>G (p.Ser536Cys)
c.1583C>G (p.Ser528Cys)
c.1580C>G (p.Ser527Cys)
c.1718C>G (p.Ser573Cys)
n.1316C>G
c.1724C>G (p.Ser575Cys)
c.462C>G
c.1652C>G (p.Ser551Cys)
n.1879C>G
c.1418C>G (p.Ser473Cys)
c.1655C>G (p.Ser552Cys)
15g.74181372G>TCA393129429STRA6c.1607C>A (p.Ser536Tyr)
c.1583C>A (p.Ser528Tyr)
c.1580C>A (p.Ser527Tyr)
c.1718C>A (p.Ser573Tyr)
n.1316C>A
c.1724C>A (p.Ser575Tyr)
c.462C>A
c.1652C>A (p.Ser551Tyr)
n.1879C>A
c.1418C>A (p.Ser473Tyr)
c.1655C>A (p.Ser552Tyr)
15g.74181373A>CCA393129430STRA6c.1606T>G (p.Ser536Ala)
c.1582T>G (p.Ser528Ala)
c.1579T>G (p.Ser527Ala)
c.1717T>G (p.Ser573Ala)
n.1315T>G
c.1723T>G (p.Ser575Ala)
c.461T>G
c.1651T>G (p.Ser551Ala)
n.1878T>G
c.1417T>G (p.Ser473Ala)
c.1654T>G (p.Ser552Ala)
15g.74181373A>GCA393129431STRA6c.1606T>C (p.Ser536Pro)
c.1582T>C (p.Ser528Pro)
c.1579T>C (p.Ser527Pro)
c.1717T>C (p.Ser573Pro)
n.1315T>C
c.1723T>C (p.Ser575Pro)
c.461T>C
c.1651T>C (p.Ser551Pro)
n.1878T>C
c.1417T>C (p.Ser473Pro)
c.1654T>C (p.Ser552Pro)
15g.74181373A>TCA393129432STRA6c.1606T>A (p.Ser536Thr)
c.1582T>A (p.Ser528Thr)
c.1579T>A (p.Ser527Thr)
c.1717T>A (p.Ser573Thr)
n.1315T>A
c.1723T>A (p.Ser575Thr)
c.461T>A
c.1651T>A (p.Ser551Thr)
n.1878T>A
c.1417T>A (p.Ser473Thr)
c.1654T>A (p.Ser552Thr)
15g.74181374G>ACA240957STRA6c.1605C>T (p.Leu535=)
c.1581C>T (p.Leu527=)
c.1578C>T (p.Leu526=)
c.1716C>T (p.Leu572=)
n.1314C>T
c.1722C>T (p.Leu574=)
c.460C>T
c.1650C>T (p.Leu550=)
n.1877C>T
c.1416C>T (p.Leu472=)
c.1653C>T (p.Leu551=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181374G>CCA491171044STRA6c.1605C>G (p.Leu535=)
c.1581C>G (p.Leu527=)
c.1578C>G (p.Leu526=)
c.1716C>G (p.Leu572=)
n.1314C>G
c.1722C>G (p.Leu574=)
c.460C>G
c.1650C>G (p.Leu550=)
n.1877C>G
c.1416C>G (p.Leu472=)
c.1653C>G (p.Leu551=)
gnomAD v4
15g.74181374G=CA2187550304STRA6c.1605C= (p.Leu535=)
c.1581C= (p.Leu527=)
c.1578C= (p.Leu526=)
c.1716C= (p.Leu572=)
n.1314C=
c.1722C= (p.Leu574=)
c.460C=
c.1650C= (p.Leu550=)
n.1877C=
c.1416C= (p.Leu472=)
c.1653C= (p.Leu551=)
15g.74181374G>TCA7654507STRA6c.1605C>A (p.Leu535=)
c.1581C>A (p.Leu527=)
c.1578C>A (p.Leu526=)
c.1716C>A (p.Leu572=)
n.1314C>A
c.1722C>A (p.Leu574=)
c.460C>A
c.1650C>A (p.Leu550=)
n.1877C>A
c.1416C>A (p.Leu472=)
c.1653C>A (p.Leu551=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181375A>CCA393129433STRA6c.1604T>G (p.Leu535Arg)
c.1580T>G (p.Leu527Arg)
c.1577T>G (p.Leu526Arg)
c.1715T>G (p.Leu572Arg)
n.1313T>G
c.1721T>G (p.Leu574Arg)
c.459T>G
c.1649T>G (p.Leu550Arg)
n.1876T>G
c.1415T>G (p.Leu472Arg)
c.1652T>G (p.Leu551Arg)
15g.74181375A>GCA393129435STRA6c.1604T>C (p.Leu535Pro)
c.1580T>C (p.Leu527Pro)
c.1577T>C (p.Leu526Pro)
c.1715T>C (p.Leu572Pro)
n.1313T>C
c.1721T>C (p.Leu574Pro)
c.459T>C
c.1649T>C (p.Leu550Pro)
n.1876T>C
c.1415T>C (p.Leu472Pro)
c.1652T>C (p.Leu551Pro)
15g.74181375A>TCA393129434STRA6c.1604T>A (p.Leu535His)
c.1580T>A (p.Leu527His)
c.1577T>A (p.Leu526His)
c.1715T>A (p.Leu572His)
n.1313T>A
c.1721T>A (p.Leu574His)
c.459T>A
c.1649T>A (p.Leu550His)
n.1876T>A
c.1415T>A (p.Leu472His)
c.1652T>A (p.Leu551His)
COSMIC COSMIC
15g.74181376G>ACA272747050STRA6c.1603C>T (p.Leu535Phe)
c.1579C>T (p.Leu527Phe)
c.1576C>T (p.Leu526Phe)
c.1714C>T (p.Leu572Phe)
n.1312C>T
c.1720C>T (p.Leu574Phe)
c.458C>T
c.1648C>T (p.Leu550Phe)
n.1875C>T
c.1414C>T (p.Leu472Phe)
c.1651C>T (p.Leu551Phe)
dbSNP gnomAD v4
15g.74181376G>CCA393129436STRA6c.1603C>G (p.Leu535Val)
c.1579C>G (p.Leu527Val)
c.1576C>G (p.Leu526Val)
c.1714C>G (p.Leu572Val)
n.1312C>G
c.1720C>G (p.Leu574Val)
c.458C>G
c.1648C>G (p.Leu550Val)
n.1875C>G
c.1414C>G (p.Leu472Val)
c.1651C>G (p.Leu551Val)
15g.74181376G=CA2187550305STRA6c.1603C= (p.Leu535=)
c.1579C= (p.Leu527=)
c.1576C= (p.Leu526=)
c.1714C= (p.Leu572=)
n.1312C=
c.1720C= (p.Leu574=)
c.458C=
c.1648C= (p.Leu550=)
n.1875C=
c.1414C= (p.Leu472=)
c.1651C= (p.Leu551=)
15g.74181376G>TCA393129437STRA6c.1603C>A (p.Leu535Ile)
c.1579C>A (p.Leu527Ile)
c.1576C>A (p.Leu526Ile)
c.1714C>A (p.Leu572Ile)
n.1312C>A
c.1720C>A (p.Leu574Ile)
c.458C>A
c.1648C>A (p.Leu550Ile)
n.1875C>A
c.1414C>A (p.Leu472Ile)
c.1651C>A (p.Leu551Ile)
15g.74181377G>ACA272747053STRA6c.1602C>T (p.Leu534=)
c.1578C>T (p.Leu526=)
c.1575C>T (p.Leu525=)
c.1713C>T (p.Leu571=)
n.1311C>T
c.1719C>T (p.Leu573=)
c.457C>T
c.1647C>T (p.Leu549=)
n.1874C>T
c.1413C>T (p.Leu471=)
c.1650C>T (p.Leu550=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74181377G>CCA491171056STRA6c.1602C>G (p.Leu534=)
c.1578C>G (p.Leu526=)
c.1575C>G (p.Leu525=)
c.1713C>G (p.Leu571=)
n.1311C>G
c.1719C>G (p.Leu573=)
c.457C>G
c.1647C>G (p.Leu549=)
n.1874C>G
c.1413C>G (p.Leu471=)
c.1650C>G (p.Leu550=)
gnomAD v4
15g.74181377G=CA2187550306STRA6c.1602C= (p.Leu534=)
c.1578C= (p.Leu526=)
c.1575C= (p.Leu525=)
c.1713C= (p.Leu571=)
n.1311C=
c.1719C= (p.Leu573=)
c.457C=
c.1647C= (p.Leu549=)
n.1874C=
c.1413C= (p.Leu471=)
c.1650C= (p.Leu550=)
15g.74181377G>TCA491171054STRA6c.1602C>A (p.Leu534=)
c.1578C>A (p.Leu526=)
c.1575C>A (p.Leu525=)
c.1713C>A (p.Leu571=)
n.1311C>A
c.1719C>A (p.Leu573=)
c.457C>A
c.1647C>A (p.Leu549=)
n.1874C>A
c.1413C>A (p.Leu471=)
c.1650C>A (p.Leu550=)
dbSNP
15g.74181378A>CCA393129438STRA6c.1601T>G (p.Leu534Arg)
c.1577T>G (p.Leu526Arg)
c.1574T>G (p.Leu525Arg)
c.1712T>G (p.Leu571Arg)
n.1310T>G
c.1718T>G (p.Leu573Arg)
c.456T>G
c.1646T>G (p.Leu549Arg)
n.1873T>G
c.1412T>G (p.Leu471Arg)
c.1649T>G (p.Leu550Arg)
15g.74181378A>GCA393129440STRA6c.1601T>C (p.Leu534Pro)
c.1577T>C (p.Leu526Pro)
c.1574T>C (p.Leu525Pro)
c.1712T>C (p.Leu571Pro)
n.1310T>C
c.1718T>C (p.Leu573Pro)
c.456T>C
c.1646T>C (p.Leu549Pro)
n.1873T>C
c.1412T>C (p.Leu471Pro)
c.1649T>C (p.Leu550Pro)
15g.74181378A>TCA393129439STRA6c.1601T>A (p.Leu534His)
c.1577T>A (p.Leu526His)
c.1574T>A (p.Leu525His)
c.1712T>A (p.Leu571His)
n.1310T>A
c.1718T>A (p.Leu573His)
c.456T>A
c.1646T>A (p.Leu549His)
n.1873T>A
c.1412T>A (p.Leu471His)
c.1649T>A (p.Leu550His)
15g.74181379G>ACA393129441STRA6c.1600C>T (p.Leu534Phe)
c.1576C>T (p.Leu526Phe)
c.1573C>T (p.Leu525Phe)
c.1711C>T (p.Leu571Phe)
n.1309C>T
c.1717C>T (p.Leu573Phe)
c.455C>T
c.1645C>T (p.Leu549Phe)
n.1872C>T
c.1411C>T (p.Leu471Phe)
c.1648C>T (p.Leu550Phe)
15g.74181379G>CCA393129442STRA6c.1600C>G (p.Leu534Val)
c.1576C>G (p.Leu526Val)
c.1573C>G (p.Leu525Val)
c.1711C>G (p.Leu571Val)
n.1309C>G
c.1717C>G (p.Leu573Val)
c.455C>G
c.1645C>G (p.Leu549Val)
n.1872C>G
c.1411C>G (p.Leu471Val)
c.1648C>G (p.Leu550Val)
15g.74181379G>TCA393129443STRA6c.1600C>A (p.Leu534Ile)
c.1576C>A (p.Leu526Ile)
c.1573C>A (p.Leu525Ile)
c.1711C>A (p.Leu571Ile)
n.1309C>A
c.1717C>A (p.Leu573Ile)
c.455C>A
c.1645C>A (p.Leu549Ile)
n.1872C>A
c.1411C>A (p.Leu471Ile)
c.1648C>A (p.Leu550Ile)
15g.74181380C>ACA491171065STRA6c.1599G>T (p.Val533=)
c.1575G>T (p.Val525=)
c.1572G>T (p.Val524=)
c.1710G>T (p.Val570=)
n.1308G>T
c.1716G>T (p.Val572=)
c.454G>T
c.1644G>T (p.Val548=)
n.1871G>T
c.1410G>T (p.Val470=)
c.1647G>T (p.Val549=)
gnomAD v4
15g.74181380C>GCA491171069STRA6c.1599G>C (p.Val533=)
c.1575G>C (p.Val525=)
c.1572G>C (p.Val524=)
c.1710G>C (p.Val570=)
n.1308G>C
c.1716G>C (p.Val572=)
c.454G>C
c.1644G>C (p.Val548=)
n.1871G>C
c.1410G>C (p.Val470=)
c.1647G>C (p.Val549=)
15g.74181380C>TCA491171067STRA6c.1599G>A (p.Val533=)
c.1575G>A (p.Val525=)
c.1572G>A (p.Val524=)
c.1710G>A (p.Val570=)
n.1308G>A
c.1716G>A (p.Val572=)
c.454G>A
c.1644G>A (p.Val548=)
n.1871G>A
c.1410G>A (p.Val470=)
c.1647G>A (p.Val549=)
15g.74181381A=CA2187550307STRA6c.1598T= (p.Val533=)
c.1574T= (p.Val525=)
c.1571T= (p.Val524=)
c.1709T= (p.Val570=)
n.1307T=
c.1715T= (p.Val572=)
c.453T=
c.1643T= (p.Val548=)
n.1870T=
c.1409T= (p.Val470=)
c.1646T= (p.Val549=)
15g.74181381A>CCA393129444STRA6c.1598T>G (p.Val533Gly)
c.1574T>G (p.Val525Gly)
c.1571T>G (p.Val524Gly)
c.1709T>G (p.Val570Gly)
n.1307T>G
c.1715T>G (p.Val572Gly)
c.453T>G
c.1643T>G (p.Val548Gly)
n.1870T>G
c.1409T>G (p.Val470Gly)
c.1646T>G (p.Val549Gly)
dbSNP
15g.74181381A>GCA393129445STRA6c.1598T>C (p.Val533Ala)
c.1574T>C (p.Val525Ala)
c.1571T>C (p.Val524Ala)
c.1709T>C (p.Val570Ala)
n.1307T>C
c.1715T>C (p.Val572Ala)
c.453T>C
c.1643T>C (p.Val548Ala)
n.1870T>C
c.1409T>C (p.Val470Ala)
c.1646T>C (p.Val549Ala)
15g.74181381A>TCA393129446STRA6c.1598T>A (p.Val533Glu)
c.1574T>A (p.Val525Glu)
c.1571T>A (p.Val524Glu)
c.1709T>A (p.Val570Glu)
n.1307T>A
c.1715T>A (p.Val572Glu)
c.453T>A
c.1643T>A (p.Val548Glu)
n.1870T>A
c.1409T>A (p.Val470Glu)
c.1646T>A (p.Val549Glu)
15g.74181382C>ACA393129447STRA6c.1597G>T (p.Val533Leu)
c.1573G>T (p.Val525Leu)
c.1570G>T (p.Val524Leu)
c.1708G>T (p.Val570Leu)
n.1306G>T
c.1714G>T (p.Val572Leu)
c.452G>T
c.1642G>T (p.Val548Leu)
n.1869G>T
c.1408G>T (p.Val470Leu)
c.1645G>T (p.Val549Leu)
gnomAD v4
15g.74181382C>GCA393129448STRA6c.1597G>C (p.Val533Leu)
c.1573G>C (p.Val525Leu)
c.1570G>C (p.Val524Leu)
c.1708G>C (p.Val570Leu)
n.1306G>C
c.1714G>C (p.Val572Leu)
c.452G>C
c.1642G>C (p.Val548Leu)
n.1869G>C
c.1408G>C (p.Val470Leu)
c.1645G>C (p.Val549Leu)
15g.74181382C>TCA393129449STRA6c.1597G>A (p.Val533Met)
c.1573G>A (p.Val525Met)
c.1570G>A (p.Val524Met)
c.1708G>A (p.Val570Met)
n.1306G>A
c.1714G>A (p.Val572Met)
c.452G>A
c.1642G>A (p.Val548Met)
n.1869G>A
c.1408G>A (p.Val470Met)
c.1645G>A (p.Val549Met)
gnomAD v4
15g.74181383T>ACA491171077STRA6c.1596A>T (p.Arg532=)
c.1572A>T (p.Arg524=)
c.1569A>T (p.Arg523=)
c.1707A>T (p.Arg569=)
n.1305A>T
c.1713A>T (p.Arg571=)
c.451A>T
c.1641A>T (p.Arg547=)
n.1868A>T
c.1407A>T (p.Arg469=)
c.1644A>T (p.Arg548=)
dbSNP
15g.74181383T>CCA491171078STRA6c.1596A>G (p.Arg532=)
c.1572A>G (p.Arg524=)
c.1569A>G (p.Arg523=)
c.1707A>G (p.Arg569=)
n.1305A>G
c.1713A>G (p.Arg571=)
c.451A>G
c.1641A>G (p.Arg547=)
n.1868A>G
c.1407A>G (p.Arg469=)
c.1644A>G (p.Arg548=)
15g.74181383T>GCA491171080STRA6c.1596A>C (p.Arg532=)
c.1572A>C (p.Arg524=)
c.1569A>C (p.Arg523=)
c.1707A>C (p.Arg569=)
n.1305A>C
c.1713A>C (p.Arg571=)
c.451A>C
c.1641A>C (p.Arg547=)
n.1868A>C
c.1407A>C (p.Arg469=)
c.1644A>C (p.Arg548=)
15g.74181383T=CA2187550308STRA6c.1596A= (p.Arg532=)
c.1572A= (p.Arg524=)
c.1569A= (p.Arg523=)
c.1707A= (p.Arg569=)
n.1305A=
c.1713A= (p.Arg571=)
c.451A=
c.1641A= (p.Arg547=)
n.1868A=
c.1407A= (p.Arg469=)
c.1644A= (p.Arg548=)
15g.74181384C>ACA393129450STRA6c.1595G>T (p.Arg532Leu)
c.1571G>T (p.Arg524Leu)
c.1568G>T (p.Arg523Leu)
c.1706G>T (p.Arg569Leu)
n.1304G>T
c.1712G>T (p.Arg571Leu)
c.450G>T
c.1640G>T (p.Arg547Leu)
n.1867G>T
c.1406G>T (p.Arg469Leu)
c.1643G>T (p.Arg548Leu)
ClinVar dbSNP
15g.74181384C=CA2187550309STRA6c.1595G= (p.Arg532=)
c.1571G= (p.Arg524=)
c.1568G= (p.Arg523=)
c.1706G= (p.Arg569=)
n.1304G=
c.1712G= (p.Arg571=)
c.450G=
c.1640G= (p.Arg547=)
n.1867G=
c.1406G= (p.Arg469=)
c.1643G= (p.Arg548=)
15g.74181384C>GCA393129451STRA6c.1595G>C (p.Arg532Pro)
c.1571G>C (p.Arg524Pro)
c.1568G>C (p.Arg523Pro)
c.1706G>C (p.Arg569Pro)
n.1304G>C
c.1712G>C (p.Arg571Pro)
c.450G>C
c.1640G>C (p.Arg547Pro)
n.1867G>C
c.1406G>C (p.Arg469Pro)
c.1643G>C (p.Arg548Pro)
15g.74181384C>TCA393129452STRA6c.1595G>A (p.Arg532Gln)
c.1571G>A (p.Arg524Gln)
c.1568G>A (p.Arg523Gln)
c.1706G>A (p.Arg569Gln)
n.1304G>A
c.1712G>A (p.Arg571Gln)
c.450G>A
c.1640G>A (p.Arg547Gln)
n.1867G>A
c.1406G>A (p.Arg469Gln)
c.1643G>A (p.Arg548Gln)
dbSNP gnomAD v4
15g.74181385G>ACA393129878STRA6c.1594C>T (p.Arg532Ter)
c.1570C>T (p.Arg524Ter)
c.1567C>T (p.Arg523Ter)
c.1705C>T (p.Arg569Ter)
n.1303C>T
c.1711C>T (p.Arg571Ter)
c.449C>T
c.1639C>T (p.Arg547Ter)
n.1866C>T
c.1405C>T (p.Arg469Ter)
c.1642C>T (p.Arg548Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74181385G>CCA393129882STRA6c.1594C>G (p.Arg532Gly)
c.1570C>G (p.Arg524Gly)
c.1567C>G (p.Arg523Gly)
c.1705C>G (p.Arg569Gly)
n.1303C>G
c.1711C>G (p.Arg571Gly)
c.449C>G
c.1639C>G (p.Arg547Gly)
n.1866C>G
c.1405C>G (p.Arg469Gly)
c.1642C>G (p.Arg548Gly)
ClinVar dbSNP gnomAD v4
15g.74181385G=CA2187550310STRA6c.1594C= (p.Arg532=)
c.1570C= (p.Arg524=)
c.1567C= (p.Arg523=)
c.1705C= (p.Arg569=)
n.1303C=
c.1711C= (p.Arg571=)
c.449C=
c.1639C= (p.Arg547=)
n.1866C=
c.1405C= (p.Arg469=)
c.1642C= (p.Arg548=)
15g.74181385G>TCA7654508STRA6c.1594C>A (p.Arg532=)
c.1570C>A (p.Arg524=)
c.1567C>A (p.Arg523=)
c.1705C>A (p.Arg569=)
n.1303C>A
c.1711C>A (p.Arg571=)
c.449C>A
c.1639C>A (p.Arg547=)
n.1866C>A
c.1405C>A (p.Arg469=)
c.1642C>A (p.Arg548=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181386C>ACA393129885STRA6c.1593G>T (p.Trp531Cys)
c.1569G>T (p.Trp523Cys)
c.1566G>T (p.Trp522Cys)
c.1704G>T (p.Trp568Cys)
n.1302G>T
c.1710G>T (p.Trp570Cys)
c.448G>T
c.1638G>T (p.Trp546Cys)
n.1865G>T
c.1404G>T (p.Trp468Cys)
c.1641G>T (p.Trp547Cys)
15g.74181386C>GCA393129887STRA6c.1593G>C (p.Trp531Cys)
c.1569G>C (p.Trp523Cys)
c.1566G>C (p.Trp522Cys)
c.1704G>C (p.Trp568Cys)
n.1302G>C
c.1710G>C (p.Trp570Cys)
c.448G>C
c.1638G>C (p.Trp546Cys)
n.1865G>C
c.1404G>C (p.Trp468Cys)
c.1641G>C (p.Trp547Cys)
15g.74181386C>TCA393129889STRA6c.1593G>A (p.Trp531Ter)
c.1569G>A (p.Trp523Ter)
c.1566G>A (p.Trp522Ter)
c.1704G>A (p.Trp568Ter)
n.1302G>A
c.1710G>A (p.Trp570Ter)
c.448G>A
c.1638G>A (p.Trp546Ter)
n.1865G>A
c.1404G>A (p.Trp468Ter)
c.1641G>A (p.Trp547Ter)
15g.74181387C>ACA393129892STRA6c.1592G>T (p.Trp531Leu)
c.1568G>T (p.Trp523Leu)
c.1565G>T (p.Trp522Leu)
c.1703G>T (p.Trp568Leu)
n.1301G>T
c.1709G>T (p.Trp570Leu)
c.447G>T
c.1637G>T (p.Trp546Leu)
n.1864G>T
c.1403G>T (p.Trp468Leu)
c.1640G>T (p.Trp547Leu)
15g.74181387C=CA2187550311STRA6c.1592G= (p.Trp531=)
c.1568G= (p.Trp523=)
c.1565G= (p.Trp522=)
c.1703G= (p.Trp568=)
n.1301G=
c.1709G= (p.Trp570=)
c.447G=
c.1637G= (p.Trp546=)
n.1864G=
c.1403G= (p.Trp468=)
c.1640G= (p.Trp547=)
15g.74181387C>GCA393129893STRA6c.1592G>C (p.Trp531Ser)
c.1568G>C (p.Trp523Ser)
c.1565G>C (p.Trp522Ser)
c.1703G>C (p.Trp568Ser)
n.1301G>C
c.1709G>C (p.Trp570Ser)
c.447G>C
c.1637G>C (p.Trp546Ser)
n.1864G>C
c.1403G>C (p.Trp468Ser)
c.1640G>C (p.Trp547Ser)
dbSNP
15g.74181387C>TCA393129896STRA6c.1592G>A (p.Trp531Ter)
c.1568G>A (p.Trp523Ter)
c.1565G>A (p.Trp522Ter)
c.1703G>A (p.Trp568Ter)
n.1301G>A
c.1709G>A (p.Trp570Ter)
c.447G>A
c.1637G>A (p.Trp546Ter)
n.1864G>A
c.1403G>A (p.Trp468Ter)
c.1640G>A (p.Trp547Ter)
15g.74181388A>CCA393129899STRA6c.1591T>G (p.Trp531Gly)
c.1567T>G (p.Trp523Gly)
c.1564T>G (p.Trp522Gly)
c.1702T>G (p.Trp568Gly)
n.1300T>G
c.1708T>G (p.Trp570Gly)
c.446T>G
c.1636T>G (p.Trp546Gly)
n.1863T>G
c.1402T>G (p.Trp468Gly)
c.1639T>G (p.Trp547Gly)
15g.74181388A>GCA393129902STRA6c.1591T>C (p.Trp531Arg)
c.1567T>C (p.Trp523Arg)
c.1564T>C (p.Trp522Arg)
c.1702T>C (p.Trp568Arg)
n.1300T>C
c.1708T>C (p.Trp570Arg)
c.446T>C
c.1636T>C (p.Trp546Arg)
n.1863T>C
c.1402T>C (p.Trp468Arg)
c.1639T>C (p.Trp547Arg)
15g.74181388A>TCA393129905STRA6c.1591T>A (p.Trp531Arg)
c.1567T>A (p.Trp523Arg)
c.1564T>A (p.Trp522Arg)
c.1702T>A (p.Trp568Arg)
n.1300T>A
c.1708T>A (p.Trp570Arg)
c.446T>A
c.1636T>A (p.Trp546Arg)
n.1863T>A
c.1402T>A (p.Trp468Arg)
c.1639T>A (p.Trp547Arg)
15g.74181389G>ACA491171340STRA6c.1590C>T (p.Thr530=)
c.1566C>T (p.Thr522=)
c.1563C>T (p.Thr521=)
c.1701C>T (p.Thr567=)
n.1299C>T
c.1707C>T (p.Thr569=)
c.445C>T
c.1635C>T (p.Thr545=)
n.1862C>T
c.1401C>T (p.Thr467=)
c.1638C>T (p.Thr546=)
15g.74181389G>CCA491171341STRA6c.1590C>G (p.Thr530=)
c.1566C>G (p.Thr522=)
c.1563C>G (p.Thr521=)
c.1701C>G (p.Thr567=)
n.1299C>G
c.1707C>G (p.Thr569=)
c.445C>G
c.1635C>G (p.Thr545=)
n.1862C>G
c.1401C>G (p.Thr467=)
c.1638C>G (p.Thr546=)
15g.74181389G>TCA491171342STRA6c.1590C>A (p.Thr530=)
c.1566C>A (p.Thr522=)
c.1563C>A (p.Thr521=)
c.1701C>A (p.Thr567=)
n.1299C>A
c.1707C>A (p.Thr569=)
c.445C>A
c.1635C>A (p.Thr545=)
n.1862C>A
c.1401C>A (p.Thr467=)
c.1638C>A (p.Thr546=)
15g.74181390G>ACA393129910STRA6c.1589C>T (p.Thr530Ile)
c.1565C>T (p.Thr522Ile)
c.1562C>T (p.Thr521Ile)
c.1700C>T (p.Thr567Ile)
n.1298C>T
c.1706C>T (p.Thr569Ile)
c.444C>T
c.1634C>T (p.Thr545Ile)
n.1861C>T
c.1400C>T (p.Thr467Ile)
c.1637C>T (p.Thr546Ile)
gnomAD v4
15g.74181390G>CCA393129912STRA6c.1589C>G (p.Thr530Ser)
c.1565C>G (p.Thr522Ser)
c.1562C>G (p.Thr521Ser)
c.1700C>G (p.Thr567Ser)
n.1298C>G
c.1706C>G (p.Thr569Ser)
c.444C>G
c.1634C>G (p.Thr545Ser)
n.1861C>G
c.1400C>G (p.Thr467Ser)
c.1637C>G (p.Thr546Ser)
15g.74181390G>TCA393129915STRA6c.1589C>A (p.Thr530Asn)
c.1565C>A (p.Thr522Asn)
c.1562C>A (p.Thr521Asn)
c.1700C>A (p.Thr567Asn)
n.1298C>A
c.1706C>A (p.Thr569Asn)
c.444C>A
c.1634C>A (p.Thr545Asn)
n.1861C>A
c.1400C>A (p.Thr467Asn)
c.1637C>A (p.Thr546Asn)
15g.74181391T>ACA393129926STRA6c.1588A>T (p.Thr530Ser)
c.1564A>T (p.Thr522Ser)
c.1561A>T (p.Thr521Ser)
c.1699A>T (p.Thr567Ser)
n.1297A>T
c.1705A>T (p.Thr569Ser)
c.443A>T
c.1633A>T (p.Thr545Ser)
n.1860A>T
c.1399A>T (p.Thr467Ser)
c.1636A>T (p.Thr546Ser)
15g.74181391T>CCA393129923STRA6c.1588A>G (p.Thr530Ala)
c.1564A>G (p.Thr522Ala)
c.1561A>G (p.Thr521Ala)
c.1699A>G (p.Thr567Ala)
n.1297A>G
c.1705A>G (p.Thr569Ala)
c.443A>G
c.1633A>G (p.Thr545Ala)
n.1860A>G
c.1399A>G (p.Thr467Ala)
c.1636A>G (p.Thr546Ala)
15g.74181391T>GCA393129920STRA6c.1588A>C (p.Thr530Pro)
c.1564A>C (p.Thr522Pro)
c.1561A>C (p.Thr521Pro)
c.1699A>C (p.Thr567Pro)
n.1297A>C
c.1705A>C (p.Thr569Pro)
c.443A>C
c.1633A>C (p.Thr545Pro)
n.1860A>C
c.1399A>C (p.Thr467Pro)
c.1636A>C (p.Thr546Pro)
15g.74181392G>ACA491171343STRA6c.1587C>T (p.Ala529=)
c.1563C>T (p.Ala521=)
c.1560C>T (p.Ala520=)
c.1698C>T (p.Ala566=)
n.1296C>T
c.1704C>T (p.Ala568=)
c.442C>T
c.1632C>T (p.Ala544=)
n.1859C>T
c.1398C>T (p.Ala466=)
c.1635C>T (p.Ala545=)
dbSNP gnomAD v3 gnomAD v4
15g.74181392G>CCA491171344STRA6c.1587C>G (p.Ala529=)
c.1563C>G (p.Ala521=)
c.1560C>G (p.Ala520=)
c.1698C>G (p.Ala566=)
n.1296C>G
c.1704C>G (p.Ala568=)
c.442C>G
c.1632C>G (p.Ala544=)
n.1859C>G
c.1398C>G (p.Ala466=)
c.1635C>G (p.Ala545=)
15g.74181392G=CA2187550312STRA6c.1587C= (p.Ala529=)
c.1563C= (p.Ala521=)
c.1560C= (p.Ala520=)
c.1698C= (p.Ala566=)
n.1296C=
c.1704C= (p.Ala568=)
c.442C=
c.1632C= (p.Ala544=)
n.1859C=
c.1398C= (p.Ala466=)
c.1635C= (p.Ala545=)
15g.74181392G>TCA491171345STRA6c.1587C>A (p.Ala529=)
c.1563C>A (p.Ala521=)
c.1560C>A (p.Ala520=)
c.1698C>A (p.Ala566=)
n.1296C>A
c.1704C>A (p.Ala568=)
c.442C>A
c.1632C>A (p.Ala544=)
n.1859C>A
c.1398C>A (p.Ala466=)
c.1635C>A (p.Ala545=)
15g.74181393G>ACA272747064STRA6c.1586C>T (p.Ala529Val)
c.1562C>T (p.Ala521Val)
c.1559C>T (p.Ala520Val)
c.1697C>T (p.Ala566Val)
n.1295C>T
c.1703C>T (p.Ala568Val)
c.441C>T
c.1631C>T (p.Ala544Val)
n.1858C>T
c.1397C>T (p.Ala466Val)
c.1634C>T (p.Ala545Val)
dbSNP gnomAD v4
15g.74181393G>CCA393129931STRA6c.1586C>G (p.Ala529Gly)
c.1562C>G (p.Ala521Gly)
c.1559C>G (p.Ala520Gly)
c.1697C>G (p.Ala566Gly)
n.1295C>G
c.1703C>G (p.Ala568Gly)
c.441C>G
c.1631C>G (p.Ala544Gly)
n.1858C>G
c.1397C>G (p.Ala466Gly)
c.1634C>G (p.Ala545Gly)
15g.74181393G=CA2187550313STRA6c.1586C= (p.Ala529=)
c.1562C= (p.Ala521=)
c.1559C= (p.Ala520=)
c.1697C= (p.Ala566=)
n.1295C=
c.1703C= (p.Ala568=)
c.441C=
c.1631C= (p.Ala544=)
n.1858C=
c.1397C= (p.Ala466=)
c.1634C= (p.Ala545=)
15g.74181393G>TCA393129934STRA6c.1586C>A (p.Ala529Asp)
c.1562C>A (p.Ala521Asp)
c.1559C>A (p.Ala520Asp)
c.1697C>A (p.Ala566Asp)
n.1295C>A
c.1703C>A (p.Ala568Asp)
c.441C>A
c.1631C>A (p.Ala544Asp)
n.1858C>A
c.1397C>A (p.Ala466Asp)
c.1634C>A (p.Ala545Asp)
gnomAD v4
15g.74181394C>ACA393129938STRA6c.1585G>T (p.Ala529Ser)
c.1561G>T (p.Ala521Ser)
c.1558G>T (p.Ala520Ser)
c.1696G>T (p.Ala566Ser)
n.1294G>T
c.1702G>T (p.Ala568Ser)
c.440G>T
c.1630G>T (p.Ala544Ser)
n.1857G>T
c.1396G>T (p.Ala466Ser)
c.1633G>T (p.Ala545Ser)
15g.74181394C=CA2187550314STRA6c.1585G= (p.Ala529=)
c.1561G= (p.Ala521=)
c.1558G= (p.Ala520=)
c.1696G= (p.Ala566=)
n.1294G=
c.1702G= (p.Ala568=)
c.440G=
c.1630G= (p.Ala544=)
n.1857G=
c.1396G= (p.Ala466=)
c.1633G= (p.Ala545=)
15g.74181394C>GCA393129943STRA6c.1585G>C (p.Ala529Pro)
c.1561G>C (p.Ala521Pro)
c.1558G>C (p.Ala520Pro)
c.1696G>C (p.Ala566Pro)
n.1294G>C
c.1702G>C (p.Ala568Pro)
c.440G>C
c.1630G>C (p.Ala544Pro)
n.1857G>C
c.1396G>C (p.Ala466Pro)
c.1633G>C (p.Ala545Pro)
15g.74181394C>TCA7654509STRA6c.1585G>A (p.Ala529Thr)
c.1561G>A (p.Ala521Thr)
c.1558G>A (p.Ala520Thr)
c.1696G>A (p.Ala566Thr)
n.1294G>A
c.1702G>A (p.Ala568Thr)
c.440G>A
c.1630G>A (p.Ala544Thr)
n.1857G>A
c.1396G>A (p.Ala466Thr)
c.1633G>A (p.Ala545Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181395C>ACA491171346STRA6c.1584G>T (p.Val528=)
c.1560G>T (p.Val520=)
c.1557G>T (p.Val519=)
c.1695G>T (p.Val565=)
n.1293G>T
c.1701G>T (p.Val567=)
c.439G>T
c.1629G>T (p.Val543=)
n.1856G>T
c.1395G>T (p.Val465=)
c.1632G>T (p.Val544=)
15g.74181395C=CA2187550315STRA6c.1584G= (p.Val528=)
c.1560G= (p.Val520=)
c.1557G= (p.Val519=)
c.1695G= (p.Val565=)
n.1293G=
c.1701G= (p.Val567=)
c.439G=
c.1629G= (p.Val543=)
n.1856G=
c.1395G= (p.Val465=)
c.1632G= (p.Val544=)
15g.74181395C>GCA491171348STRA6c.1584G>C (p.Val528=)
c.1560G>C (p.Val520=)
c.1557G>C (p.Val519=)
c.1695G>C (p.Val565=)
n.1293G>C
c.1701G>C (p.Val567=)
c.439G>C
c.1629G>C (p.Val543=)
n.1856G>C
c.1395G>C (p.Val465=)
c.1632G>C (p.Val544=)
15g.74181395C>TCA272747072STRA6c.1584G>A (p.Val528=)
c.1560G>A (p.Val520=)
c.1557G>A (p.Val519=)
c.1695G>A (p.Val565=)
n.1293G>A
c.1701G>A (p.Val567=)
c.439G>A
c.1629G>A (p.Val543=)
n.1856G>A
c.1395G>A (p.Val465=)
c.1632G>A (p.Val544=)
dbSNP gnomAD v2 gnomAD v4
15g.74181396A=CA2187550316STRA6c.1583T= (p.Val528=)
c.1559T= (p.Val520=)
c.1556T= (p.Val519=)
c.1694T= (p.Val565=)
n.1292T=
c.1700T= (p.Val567=)
c.438T=
c.1628T= (p.Val543=)
n.1855T=
c.1394T= (p.Val465=)
c.1631T= (p.Val544=)
15g.74181396A>CCA393129949STRA6c.1583T>G (p.Val528Gly)
c.1559T>G (p.Val520Gly)
c.1556T>G (p.Val519Gly)
c.1694T>G (p.Val565Gly)
n.1292T>G
c.1700T>G (p.Val567Gly)
c.438T>G
c.1628T>G (p.Val543Gly)
n.1855T>G
c.1394T>G (p.Val465Gly)
c.1631T>G (p.Val544Gly)
15g.74181396A>GCA393129950STRA6c.1583T>C (p.Val528Ala)
c.1559T>C (p.Val520Ala)
c.1556T>C (p.Val519Ala)
c.1694T>C (p.Val565Ala)
n.1292T>C
c.1700T>C (p.Val567Ala)
c.438T>C
c.1628T>C (p.Val543Ala)
n.1855T>C
c.1394T>C (p.Val465Ala)
c.1631T>C (p.Val544Ala)
dbSNP gnomAD v2 gnomAD v4
15g.74181396A>TCA393129954STRA6c.1583T>A (p.Val528Glu)
c.1559T>A (p.Val520Glu)
c.1556T>A (p.Val519Glu)
c.1694T>A (p.Val565Glu)
n.1292T>A
c.1700T>A (p.Val567Glu)
c.438T>A
c.1628T>A (p.Val543Glu)
n.1855T>A
c.1394T>A (p.Val465Glu)
c.1631T>A (p.Val544Glu)
15g.74181397C>ACA393129958STRA6c.1582G>T (p.Val528Leu)
c.1558G>T (p.Val520Leu)
c.1555G>T (p.Val519Leu)
c.1693G>T (p.Val565Leu)
n.1291G>T
c.1699G>T (p.Val567Leu)
c.437G>T
c.1627G>T (p.Val543Leu)
n.1854G>T
c.1393G>T (p.Val465Leu)
c.1630G>T (p.Val544Leu)
15g.74181397C=CA2187550317STRA6c.1582G= (p.Val528=)
c.1558G= (p.Val520=)
c.1555G= (p.Val519=)
c.1693G= (p.Val565=)
n.1291G=
c.1699G= (p.Val567=)
c.437G=
c.1627G= (p.Val543=)
n.1854G=
c.1393G= (p.Val465=)
c.1630G= (p.Val544=)
15g.74181397C>GCA393129961STRA6c.1582G>C (p.Val528Leu)
c.1558G>C (p.Val520Leu)
c.1555G>C (p.Val519Leu)
c.1693G>C (p.Val565Leu)
n.1291G>C
c.1699G>C (p.Val567Leu)
c.437G>C
c.1627G>C (p.Val543Leu)
n.1854G>C
c.1393G>C (p.Val465Leu)
c.1630G>C (p.Val544Leu)
15g.74181397C>TCA7654510STRA6c.1582G>A (p.Val528Met)
c.1558G>A (p.Val520Met)
c.1555G>A (p.Val519Met)
c.1693G>A (p.Val565Met)
n.1291G>A
c.1699G>A (p.Val567Met)
c.437G>A
c.1627G>A (p.Val543Met)
n.1854G>A
c.1393G>A (p.Val465Met)
c.1630G>A (p.Val544Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181398C>ACA393129966STRA6c.1581G>T (p.Met527Ile)
c.1557G>T (p.Met519Ile)
c.1554G>T (p.Met518Ile)
c.1692G>T (p.Met564Ile)
n.1290G>T
c.1698G>T (p.Met566Ile)
c.436G>T
c.1626G>T (p.Met542Ile)
n.1853G>T
c.1392G>T (p.Met464Ile)
c.1629G>T (p.Met543Ile)
15g.74181398C=CA2187550318STRA6c.1581G= (p.Met527=)
c.1557G= (p.Met519=)
c.1554G= (p.Met518=)
c.1692G= (p.Met564=)
n.1290G=
c.1698G= (p.Met566=)
c.436G=
c.1626G= (p.Met542=)
n.1853G=
c.1392G= (p.Met464=)
c.1629G= (p.Met543=)
15g.74181398C>GCA393129971STRA6c.1581G>C (p.Met527Ile)
c.1557G>C (p.Met519Ile)
c.1554G>C (p.Met518Ile)
c.1692G>C (p.Met564Ile)
n.1290G>C
c.1698G>C (p.Met566Ile)
c.436G>C
c.1626G>C (p.Met542Ile)
n.1853G>C
c.1392G>C (p.Met464Ile)
c.1629G>C (p.Met543Ile)
dbSNP
15g.74181398C>TCA7654511STRA6c.1581G>A (p.Met527Ile)
c.1557G>A (p.Met519Ile)
c.1554G>A (p.Met518Ile)
c.1692G>A (p.Met564Ile)
n.1290G>A
c.1698G>A (p.Met566Ile)
c.436G>A
c.1626G>A (p.Met542Ile)
n.1853G>A
c.1392G>A (p.Met464Ile)
c.1629G>A (p.Met543Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181399A=CA2187550319STRA6c.1580T= (p.Met527=)
c.1556T= (p.Met519=)
c.1553T= (p.Met518=)
c.1691T= (p.Met564=)
n.1289T=
c.1697T= (p.Met566=)
c.435T=
c.1625T= (p.Met542=)
n.1852T=
c.1391T= (p.Met464=)
c.1628T= (p.Met543=)
15g.74181399A>CCA393129976STRA6c.1580T>G (p.Met527Arg)
c.1556T>G (p.Met519Arg)
c.1553T>G (p.Met518Arg)
c.1691T>G (p.Met564Arg)
n.1289T>G
c.1697T>G (p.Met566Arg)
c.435T>G
c.1625T>G (p.Met542Arg)
n.1852T>G
c.1391T>G (p.Met464Arg)
c.1628T>G (p.Met543Arg)
15g.74181399A>GCA393129982STRA6c.1580T>C (p.Met527Thr)
c.1556T>C (p.Met519Thr)
c.1553T>C (p.Met518Thr)
c.1691T>C (p.Met564Thr)
n.1289T>C
c.1697T>C (p.Met566Thr)
c.435T>C
c.1625T>C (p.Met542Thr)
n.1852T>C
c.1391T>C (p.Met464Thr)
c.1628T>C (p.Met543Thr)
dbSNP gnomAD v2 gnomAD v4
15g.74181399A>TCA393129979STRA6c.1580T>A (p.Met527Lys)
c.1556T>A (p.Met519Lys)
c.1553T>A (p.Met518Lys)
c.1691T>A (p.Met564Lys)
n.1289T>A
c.1697T>A (p.Met566Lys)
c.435T>A
c.1625T>A (p.Met542Lys)
n.1852T>A
c.1391T>A (p.Met464Lys)
c.1628T>A (p.Met543Lys)
15g.74181400T>ACA393129986STRA6c.1579A>T (p.Met527Leu)
c.1555A>T (p.Met519Leu)
c.1552A>T (p.Met518Leu)
c.1690A>T (p.Met564Leu)
n.1288A>T
c.1696A>T (p.Met566Leu)
c.434A>T
c.1624A>T (p.Met542Leu)
n.1851A>T
c.1390A>T (p.Met464Leu)
c.1627A>T (p.Met543Leu)
15g.74181400T>CCA393129992STRA6c.1579A>G (p.Met527Val)
c.1555A>G (p.Met519Val)
c.1552A>G (p.Met518Val)
c.1690A>G (p.Met564Val)
n.1288A>G
c.1696A>G (p.Met566Val)
c.434A>G
c.1624A>G (p.Met542Val)
n.1851A>G
c.1390A>G (p.Met464Val)
c.1627A>G (p.Met543Val)
15g.74181400T>GCA393129989STRA6c.1579A>C (p.Met527Leu)
c.1555A>C (p.Met519Leu)
c.1552A>C (p.Met518Leu)
c.1690A>C (p.Met564Leu)
n.1288A>C
c.1696A>C (p.Met566Leu)
c.434A>C
c.1624A>C (p.Met542Leu)
n.1851A>C
c.1390A>C (p.Met464Leu)
c.1627A>C (p.Met543Leu)
gnomAD v4
15g.74181401G>ACA491171371STRA6c.1578C>T (p.Ala526=)
c.1554C>T (p.Ala518=)
c.1551C>T (p.Ala517=)
c.1689C>T (p.Ala563=)
n.1287C>T
c.1695C>T (p.Ala565=)
c.433C>T
c.1623C>T (p.Ala541=)
n.1850C>T
c.1389C>T (p.Ala463=)
c.1626C>T (p.Ala542=)
15g.74181401G>CCA491171369STRA6c.1578C>G (p.Ala526=)
c.1554C>G (p.Ala518=)
c.1551C>G (p.Ala517=)
c.1689C>G (p.Ala563=)
n.1287C>G
c.1695C>G (p.Ala565=)
c.433C>G
c.1623C>G (p.Ala541=)
n.1850C>G
c.1389C>G (p.Ala463=)
c.1626C>G (p.Ala542=)
15g.74181401G>TCA491171367STRA6c.1578C>A (p.Ala526=)
c.1554C>A (p.Ala518=)
c.1551C>A (p.Ala517=)
c.1689C>A (p.Ala563=)
n.1287C>A
c.1695C>A (p.Ala565=)
c.433C>A
c.1623C>A (p.Ala541=)
n.1850C>A
c.1389C>A (p.Ala463=)
c.1626C>A (p.Ala542=)
15g.74181402G>ACA7654512STRA6c.1577C>T (p.Ala526Val)
c.1553C>T (p.Ala518Val)
c.1550C>T (p.Ala517Val)
c.1688C>T (p.Ala563Val)
n.1286C>T
c.1694C>T (p.Ala565Val)
c.432C>T
c.1622C>T (p.Ala541Val)
n.1849C>T
c.1388C>T (p.Ala463Val)
c.1625C>T (p.Ala542Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181402G>CCA393129998STRA6c.1577C>G (p.Ala526Gly)
c.1553C>G (p.Ala518Gly)
c.1550C>G (p.Ala517Gly)
c.1688C>G (p.Ala563Gly)
n.1286C>G
c.1694C>G (p.Ala565Gly)
c.432C>G
c.1622C>G (p.Ala541Gly)
n.1849C>G
c.1388C>G (p.Ala463Gly)
c.1625C>G (p.Ala542Gly)
15g.74181402G=CA2187550320STRA6c.1577C= (p.Ala526=)
c.1553C= (p.Ala518=)
c.1550C= (p.Ala517=)
c.1688C= (p.Ala563=)
n.1286C=
c.1694C= (p.Ala565=)
c.432C=
c.1622C= (p.Ala541=)
n.1849C=
c.1388C= (p.Ala463=)
c.1625C= (p.Ala542=)
15g.74181402G>TCA393129996STRA6c.1577C>A (p.Ala526Asp)
c.1553C>A (p.Ala518Asp)
c.1550C>A (p.Ala517Asp)
c.1688C>A (p.Ala563Asp)
n.1286C>A
c.1694C>A (p.Ala565Asp)
c.432C>A
c.1622C>A (p.Ala541Asp)
n.1849C>A
c.1388C>A (p.Ala463Asp)
c.1625C>A (p.Ala542Asp)
15g.74181403C>ACA393130002STRA6c.1576G>T (p.Ala526Ser)
c.1552G>T (p.Ala518Ser)
c.1549G>T (p.Ala517Ser)
c.1687G>T (p.Ala563Ser)
n.1285G>T
c.1693G>T (p.Ala565Ser)
c.431G>T
c.1621G>T (p.Ala541Ser)
n.1848G>T
c.1387G>T (p.Ala463Ser)
c.1624G>T (p.Ala542Ser)
15g.74181403C=CA2187550321STRA6c.1576G= (p.Ala526=)
c.1552G= (p.Ala518=)
c.1549G= (p.Ala517=)
c.1687G= (p.Ala563=)
n.1285G=
c.1693G= (p.Ala565=)
c.431G=
c.1621G= (p.Ala541=)
n.1848G=
c.1387G= (p.Ala463=)
c.1624G= (p.Ala542=)
15g.74181403C>GCA393130006STRA6c.1576G>C (p.Ala526Pro)
c.1552G>C (p.Ala518Pro)
c.1549G>C (p.Ala517Pro)
c.1687G>C (p.Ala563Pro)
n.1285G>C
c.1693G>C (p.Ala565Pro)
c.431G>C
c.1621G>C (p.Ala541Pro)
n.1848G>C
c.1387G>C (p.Ala463Pro)
c.1624G>C (p.Ala542Pro)
15g.74181403C>TCA7654513STRA6c.1576G>A (p.Ala526Thr)
c.1552G>A (p.Ala518Thr)
c.1549G>A (p.Ala517Thr)
c.1687G>A (p.Ala563Thr)
n.1285G>A
c.1693G>A (p.Ala565Thr)
c.431G>A
c.1621G>A (p.Ala541Thr)
n.1848G>A
c.1387G>A (p.Ala463Thr)
c.1624G>A (p.Ala542Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181404A>CCA491171379STRA6c.1575T>G (p.Gly525=)
c.1551T>G (p.Gly517=)
c.1548T>G (p.Gly516=)
c.1686T>G (p.Gly562=)
n.1284T>G
c.1692T>G (p.Gly564=)
c.430T>G
c.1620T>G (p.Gly540=)
n.1847T>G
c.1386T>G (p.Gly462=)
c.1623T>G (p.Gly541=)
15g.74181404A>GCA491171381STRA6c.1575T>C (p.Gly525=)
c.1551T>C (p.Gly517=)
c.1548T>C (p.Gly516=)
c.1686T>C (p.Gly562=)
n.1284T>C
c.1692T>C (p.Gly564=)
c.430T>C
c.1620T>C (p.Gly540=)
n.1847T>C
c.1386T>C (p.Gly462=)
c.1623T>C (p.Gly541=)
15g.74181404A>TCA491171382STRA6c.1575T>A (p.Gly525=)
c.1551T>A (p.Gly517=)
c.1548T>A (p.Gly516=)
c.1686T>A (p.Gly562=)
n.1284T>A
c.1692T>A (p.Gly564=)
c.430T>A
c.1620T>A (p.Gly540=)
n.1847T>A
c.1386T>A (p.Gly462=)
c.1623T>A (p.Gly541=)
15g.74181405C>ACA393130012STRA6c.1574G>T (p.Gly525Val)
c.1550G>T (p.Gly517Val)
c.1547G>T (p.Gly516Val)
c.1685G>T (p.Gly562Val)
n.1283G>T
c.1691G>T (p.Gly564Val)
c.429G>T
c.1619G>T (p.Gly540Val)
n.1846G>T
c.1385G>T (p.Gly462Val)
c.1622G>T (p.Gly541Val)
15g.74181405C>GCA393130013STRA6c.1574G>C (p.Gly525Ala)
c.1550G>C (p.Gly517Ala)
c.1547G>C (p.Gly516Ala)
c.1685G>C (p.Gly562Ala)
n.1283G>C
c.1691G>C (p.Gly564Ala)
c.429G>C
c.1619G>C (p.Gly540Ala)
n.1846G>C
c.1385G>C (p.Gly462Ala)
c.1622G>C (p.Gly541Ala)
15g.74181405C>TCA393130016STRA6c.1574G>A (p.Gly525Asp)
c.1550G>A (p.Gly517Asp)
c.1547G>A (p.Gly516Asp)
c.1685G>A (p.Gly562Asp)
n.1283G>A
c.1691G>A (p.Gly564Asp)
c.429G>A
c.1619G>A (p.Gly540Asp)
n.1846G>A
c.1385G>A (p.Gly462Asp)
c.1622G>A (p.Gly541Asp)
15g.74181406C>ACA393130019STRA6c.1573G>T (p.Gly525Cys)
c.1549G>T (p.Gly517Cys)
c.1546G>T (p.Gly516Cys)
c.1684G>T (p.Gly562Cys)
n.1282G>T
c.1690G>T (p.Gly564Cys)
c.428G>T
c.1618G>T (p.Gly540Cys)
n.1845G>T
c.1384G>T (p.Gly462Cys)
c.1621G>T (p.Gly541Cys)
15g.74181406C>GCA393130021STRA6c.1573G>C (p.Gly525Arg)
c.1549G>C (p.Gly517Arg)
c.1546G>C (p.Gly516Arg)
c.1684G>C (p.Gly562Arg)
n.1282G>C
c.1690G>C (p.Gly564Arg)
c.428G>C
c.1618G>C (p.Gly540Arg)
n.1845G>C
c.1384G>C (p.Gly462Arg)
c.1621G>C (p.Gly541Arg)
15g.74181406C>TCA393130024STRA6c.1573G>A (p.Gly525Ser)
c.1549G>A (p.Gly517Ser)
c.1546G>A (p.Gly516Ser)
c.1684G>A (p.Gly562Ser)
n.1282G>A
c.1690G>A (p.Gly564Ser)
c.428G>A
c.1618G>A (p.Gly540Ser)
n.1845G>A
c.1384G>A (p.Gly462Ser)
c.1621G>A (p.Gly541Ser)
gnomAD v4
15g.74181407C>ACA491171391STRA6c.1572G>T (p.Val524=)
c.1548G>T (p.Val516=)
c.1545G>T (p.Val515=)
c.1683G>T (p.Val561=)
n.1281G>T
c.1689G>T (p.Val563=)
c.427G>T
c.1617G>T (p.Val539=)
n.1844G>T
c.1383G>T (p.Val461=)
c.1620G>T (p.Val540=)
15g.74181407C>GCA491171395STRA6c.1572G>C (p.Val524=)
c.1548G>C (p.Val516=)
c.1545G>C (p.Val515=)
c.1683G>C (p.Val561=)
n.1281G>C
c.1689G>C (p.Val563=)
c.427G>C
c.1617G>C (p.Val539=)
n.1844G>C
c.1383G>C (p.Val461=)
c.1620G>C (p.Val540=)
15g.74181407C>TCA491171393STRA6c.1572G>A (p.Val524=)
c.1548G>A (p.Val516=)
c.1545G>A (p.Val515=)
c.1683G>A (p.Val561=)
n.1281G>A
c.1689G>A (p.Val563=)
c.427G>A
c.1617G>A (p.Val539=)
n.1844G>A
c.1383G>A (p.Val461=)
c.1620G>A (p.Val540=)
15g.74181408A>CCA393130028STRA6c.1571T>G (p.Val524Gly)
c.1547T>G (p.Val516Gly)
c.1544T>G (p.Val515Gly)
c.1682T>G (p.Val561Gly)
n.1280T>G
c.1688T>G (p.Val563Gly)
c.426T>G
c.1616T>G (p.Val539Gly)
n.1843T>G
c.1382T>G (p.Val461Gly)
c.1619T>G (p.Val540Gly)
15g.74181408A>GCA393130030STRA6c.1571T>C (p.Val524Ala)
c.1547T>C (p.Val516Ala)
c.1544T>C (p.Val515Ala)
c.1682T>C (p.Val561Ala)
n.1280T>C
c.1688T>C (p.Val563Ala)
c.426T>C
c.1616T>C (p.Val539Ala)
n.1843T>C
c.1382T>C (p.Val461Ala)
c.1619T>C (p.Val540Ala)
15g.74181408A>TCA393130032STRA6c.1571T>A (p.Val524Glu)
c.1547T>A (p.Val516Glu)
c.1544T>A (p.Val515Glu)
c.1682T>A (p.Val561Glu)
n.1280T>A
c.1688T>A (p.Val563Glu)
c.426T>A
c.1616T>A (p.Val539Glu)
n.1843T>A
c.1382T>A (p.Val461Glu)
c.1619T>A (p.Val540Glu)
15g.74181409C>ACA393130035STRA6c.1570G>T (p.Val524Leu)
c.1546G>T (p.Val516Leu)
c.1543G>T (p.Val515Leu)
c.1681G>T (p.Val561Leu)
n.1279G>T
c.1687G>T (p.Val563Leu)
c.425G>T
c.1615G>T (p.Val539Leu)
n.1842G>T
c.1381G>T (p.Val461Leu)
c.1618G>T (p.Val540Leu)
15g.74181409C>GCA393130039STRA6c.1570G>C (p.Val524Leu)
c.1546G>C (p.Val516Leu)
c.1543G>C (p.Val515Leu)
c.1681G>C (p.Val561Leu)
n.1279G>C
c.1687G>C (p.Val563Leu)
c.425G>C
c.1615G>C (p.Val539Leu)
n.1842G>C
c.1381G>C (p.Val461Leu)
c.1618G>C (p.Val540Leu)
15g.74181409C>TCA393130041STRA6c.1570G>A (p.Val524Met)
c.1546G>A (p.Val516Met)
c.1543G>A (p.Val515Met)
c.1681G>A (p.Val561Met)
n.1279G>A
c.1687G>A (p.Val563Met)
c.425G>A
c.1615G>A (p.Val539Met)
n.1842G>A
c.1381G>A (p.Val461Met)
c.1618G>A (p.Val540Met)
15g.74181410C>ACA491171403STRA6c.1569G>T (p.Leu523=)
c.1545G>T (p.Leu515=)
c.1542G>T (p.Leu514=)
c.1680G>T (p.Leu560=)
n.1278G>T
c.1686G>T (p.Leu562=)
c.424G>T
c.1614G>T (p.Leu538=)
n.1841G>T
c.1380G>T (p.Leu460=)
c.1617G>T (p.Leu539=)
15g.74181410C=CA2187550322STRA6c.1569G= (p.Leu523=)
c.1545G= (p.Leu515=)
c.1542G= (p.Leu514=)
c.1680G= (p.Leu560=)
n.1278G=
c.1686G= (p.Leu562=)
c.424G=
c.1614G= (p.Leu538=)
n.1841G=
c.1380G= (p.Leu460=)
c.1617G= (p.Leu539=)
15g.74181410C>GCA491171405STRA6c.1569G>C (p.Leu523=)
c.1545G>C (p.Leu515=)
c.1542G>C (p.Leu514=)
c.1680G>C (p.Leu560=)
n.1278G>C
c.1686G>C (p.Leu562=)
c.424G>C
c.1614G>C (p.Leu538=)
n.1841G>C
c.1380G>C (p.Leu460=)
c.1617G>C (p.Leu539=)
15g.74181410C>TCA491171407STRA6c.1569G>A (p.Leu523=)
c.1545G>A (p.Leu515=)
c.1542G>A (p.Leu514=)
c.1680G>A (p.Leu560=)
n.1278G>A
c.1686G>A (p.Leu562=)
c.424G>A
c.1614G>A (p.Leu538=)
n.1841G>A
c.1380G>A (p.Leu460=)
c.1617G>A (p.Leu539=)
dbSNP
15g.74181411A=CA2187550323STRA6c.1568T= (p.Leu523=)
c.1544T= (p.Leu515=)
c.1541T= (p.Leu514=)
c.1679T= (p.Leu560=)
n.1277T=
c.1685T= (p.Leu562=)
c.423T=
c.1613T= (p.Leu538=)
n.1840T=
c.1379T= (p.Leu460=)
c.1616T= (p.Leu539=)
15g.74181411A>CCA393130050STRA6c.1568T>G (p.Leu523Arg)
c.1544T>G (p.Leu515Arg)
c.1541T>G (p.Leu514Arg)
c.1679T>G (p.Leu560Arg)
n.1277T>G
c.1685T>G (p.Leu562Arg)
c.423T>G
c.1613T>G (p.Leu538Arg)
n.1840T>G
c.1379T>G (p.Leu460Arg)
c.1616T>G (p.Leu539Arg)
dbSNP gnomAD v4
15g.74181411A>GCA393130044STRA6c.1568T>C (p.Leu523Pro)
c.1544T>C (p.Leu515Pro)
c.1541T>C (p.Leu514Pro)
c.1679T>C (p.Leu560Pro)
n.1277T>C
c.1685T>C (p.Leu562Pro)
c.423T>C
c.1613T>C (p.Leu538Pro)
n.1840T>C
c.1379T>C (p.Leu460Pro)
c.1616T>C (p.Leu539Pro)
15g.74181411A>TCA393130046STRA6c.1568T>A (p.Leu523Gln)
c.1544T>A (p.Leu515Gln)
c.1541T>A (p.Leu514Gln)
c.1679T>A (p.Leu560Gln)
n.1277T>A
c.1685T>A (p.Leu562Gln)
c.423T>A
c.1613T>A (p.Leu538Gln)
n.1840T>A
c.1379T>A (p.Leu460Gln)
c.1616T>A (p.Leu539Gln)
15g.74181412G>ACA272747080STRA6c.1567C>T (p.Leu523=)
c.1543C>T (p.Leu515=)
c.1540C>T (p.Leu514=)
c.1678C>T (p.Leu560=)
n.1276C>T
c.1684C>T (p.Leu562=)
c.422C>T
c.1612C>T (p.Leu538=)
n.1839C>T
c.1378C>T (p.Leu460=)
c.1615C>T (p.Leu539=)
dbSNP
15g.74181412G>CCA393130054STRA6c.1567C>G (p.Leu523Val)
c.1543C>G (p.Leu515Val)
c.1540C>G (p.Leu514Val)
c.1678C>G (p.Leu560Val)
n.1276C>G
c.1684C>G (p.Leu562Val)
c.422C>G
c.1612C>G (p.Leu538Val)
n.1839C>G
c.1378C>G (p.Leu460Val)
c.1615C>G (p.Leu539Val)
15g.74181412G=CA2187550324STRA6c.1567C= (p.Leu523=)
c.1543C= (p.Leu515=)
c.1540C= (p.Leu514=)
c.1678C= (p.Leu560=)
n.1276C=
c.1684C= (p.Leu562=)
c.422C=
c.1612C= (p.Leu538=)
n.1839C=
c.1378C= (p.Leu460=)
c.1615C= (p.Leu539=)
15g.74181412G>TCA393130057STRA6c.1567C>A (p.Leu523Met)
c.1543C>A (p.Leu515Met)
c.1540C>A (p.Leu514Met)
c.1678C>A (p.Leu560Met)
n.1276C>A
c.1684C>A (p.Leu562Met)
c.422C>A
c.1612C>A (p.Leu538Met)
n.1839C>A
c.1378C>A (p.Leu460Met)
c.1615C>A (p.Leu539Met)
15g.74181413C>ACA10636566STRA6c.1566G>T (p.Val522=)
c.1542G>T (p.Val514=)
c.1539G>T (p.Val513=)
c.1677G>T (p.Val559=)
n.1275G>T
c.1683G>T (p.Val561=)
c.421G>T
c.1611G>T (p.Val537=)
n.1838G>T
c.1377G>T (p.Val459=)
c.1614G>T (p.Val538=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74181413C=CA2187550325STRA6c.1566G= (p.Val522=)
c.1542G= (p.Val514=)
c.1539G= (p.Val513=)
c.1677G= (p.Val559=)
n.1275G=
c.1683G= (p.Val561=)
c.421G=
c.1611G= (p.Val537=)
n.1838G=
c.1377G= (p.Val459=)
c.1614G= (p.Val538=)
15g.74181413C>GCA491171419STRA6c.1566G>C (p.Val522=)
c.1542G>C (p.Val514=)
c.1539G>C (p.Val513=)
c.1677G>C (p.Val559=)
n.1275G>C
c.1683G>C (p.Val561=)
c.421G>C
c.1611G>C (p.Val537=)
n.1838G>C
c.1377G>C (p.Val459=)
c.1614G>C (p.Val538=)
dbSNP
15g.74181413C>TCA491171417STRA6c.1566G>A (p.Val522=)
c.1542G>A (p.Val514=)
c.1539G>A (p.Val513=)
c.1677G>A (p.Val559=)
n.1275G>A
c.1683G>A (p.Val561=)
c.421G>A
c.1611G>A (p.Val537=)
n.1838G>A
c.1377G>A (p.Val459=)
c.1614G>A (p.Val538=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74181414A=CA2187550326STRA6c.1565T= (p.Val522=)
c.1541T= (p.Val514=)
c.1538T= (p.Val513=)
c.1676T= (p.Val559=)
n.1274T=
c.1682T= (p.Val561=)
c.420T=
c.1610T= (p.Val537=)
n.1837T=
c.1376T= (p.Val459=)
c.1613T= (p.Val538=)
15g.74181414A>CCA7654514STRA6c.1565T>G (p.Val522Gly)
c.1541T>G (p.Val514Gly)
c.1538T>G (p.Val513Gly)
c.1676T>G (p.Val559Gly)
n.1274T>G
c.1682T>G (p.Val561Gly)
c.420T>G
c.1610T>G (p.Val537Gly)
n.1837T>G
c.1376T>G (p.Val459Gly)
c.1613T>G (p.Val538Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181414A>GCA393130062STRA6c.1565T>C (p.Val522Ala)
c.1541T>C (p.Val514Ala)
c.1538T>C (p.Val513Ala)
c.1676T>C (p.Val559Ala)
n.1274T>C
c.1682T>C (p.Val561Ala)
c.420T>C
c.1610T>C (p.Val537Ala)
n.1837T>C
c.1376T>C (p.Val459Ala)
c.1613T>C (p.Val538Ala)
15g.74181414A>TCA393130064STRA6c.1565T>A (p.Val522Glu)
c.1541T>A (p.Val514Glu)
c.1538T>A (p.Val513Glu)
c.1676T>A (p.Val559Glu)
n.1274T>A
c.1682T>A (p.Val561Glu)
c.420T>A
c.1610T>A (p.Val537Glu)
n.1837T>A
c.1376T>A (p.Val459Glu)
c.1613T>A (p.Val538Glu)
15g.74181415C>ACA393130069STRA6c.1564G>T (p.Val522Leu)
c.1540G>T (p.Val514Leu)
c.1537G>T (p.Val513Leu)
c.1675G>T (p.Val559Leu)
n.1273G>T
c.1681G>T (p.Val561Leu)
c.419G>T
c.1609G>T (p.Val537Leu)
n.1836G>T
c.1375G>T (p.Val459Leu)
c.1612G>T (p.Val538Leu)
dbSNP gnomAD v3 gnomAD v4
15g.74181415C=CA2187550327STRA6c.1564G= (p.Val522=)
c.1540G= (p.Val514=)
c.1537G= (p.Val513=)
c.1675G= (p.Val559=)
n.1273G=
c.1681G= (p.Val561=)
c.419G=
c.1609G= (p.Val537=)
n.1836G=
c.1375G= (p.Val459=)
c.1612G= (p.Val538=)
15g.74181415C>GCA393130071STRA6c.1564G>C (p.Val522Leu)
c.1540G>C (p.Val514Leu)
c.1537G>C (p.Val513Leu)
c.1675G>C (p.Val559Leu)
n.1273G>C
c.1681G>C (p.Val561Leu)
c.419G>C
c.1609G>C (p.Val537Leu)
n.1836G>C
c.1375G>C (p.Val459Leu)
c.1612G>C (p.Val538Leu)
gnomAD v4
15g.74181415C>TCA393130073STRA6c.1564G>A (p.Val522Met)
c.1540G>A (p.Val514Met)
c.1537G>A (p.Val513Met)
c.1675G>A (p.Val559Met)
n.1273G>A
c.1681G>A (p.Val561Met)
c.419G>A
c.1609G>A (p.Val537Met)
n.1836G>A
c.1375G>A (p.Val459Met)
c.1612G>A (p.Val538Met)
gnomAD v4
15g.74181416A=CA2187550328STRA6c.1563T= (p.Asn521=)
c.1539T= (p.Asn513=)
c.1536T= (p.Asn512=)
c.1674T= (p.Asn558=)
n.1272T=
c.1680T= (p.Asn560=)
c.418T=
c.1608T= (p.Asn536=)
n.1835T=
c.1374T= (p.Asn458=)
c.1611T= (p.Asn537=)
15g.74181416A>CCA393130077STRA6c.1563T>G (p.Asn521Lys)
c.1539T>G (p.Asn513Lys)
c.1536T>G (p.Asn512Lys)
c.1674T>G (p.Asn558Lys)
n.1272T>G
c.1680T>G (p.Asn560Lys)
c.418T>G
c.1608T>G (p.Asn536Lys)
n.1835T>G
c.1374T>G (p.Asn458Lys)
c.1611T>G (p.Asn537Lys)
15g.74181416A>GCA491171429STRA6c.1563T>C (p.Asn521=)
c.1539T>C (p.Asn513=)
c.1536T>C (p.Asn512=)
c.1674T>C (p.Asn558=)
n.1272T>C
c.1680T>C (p.Asn560=)
c.418T>C
c.1608T>C (p.Asn536=)
n.1835T>C
c.1374T>C (p.Asn458=)
c.1611T>C (p.Asn537=)
dbSNP gnomAD v3 gnomAD v4
15g.74181416A>TCA393130079STRA6c.1563T>A (p.Asn521Lys)
c.1539T>A (p.Asn513Lys)
c.1536T>A (p.Asn512Lys)
c.1674T>A (p.Asn558Lys)
n.1272T>A
c.1680T>A (p.Asn560Lys)
c.418T>A
c.1608T>A (p.Asn536Lys)
n.1835T>A
c.1374T>A (p.Asn458Lys)
c.1611T>A (p.Asn537Lys)
15g.74181417T>ACA393130089STRA6c.1562A>T (p.Asn521Ile)
c.1538A>T (p.Asn513Ile)
c.1535A>T (p.Asn512Ile)
c.1673A>T (p.Asn558Ile)
n.1271A>T
c.1679A>T (p.Asn560Ile)
c.417A>T
c.1607A>T (p.Asn536Ile)
n.1834A>T
c.1373A>T (p.Asn458Ile)
c.1610A>T (p.Asn537Ile)
15g.74181417T>CCA393130086STRA6c.1562A>G (p.Asn521Ser)
c.1538A>G (p.Asn513Ser)
c.1535A>G (p.Asn512Ser)
c.1673A>G (p.Asn558Ser)
n.1271A>G
c.1679A>G (p.Asn560Ser)
c.417A>G
c.1607A>G (p.Asn536Ser)
n.1834A>G
c.1373A>G (p.Asn458Ser)
c.1610A>G (p.Asn537Ser)
15g.74181417T>GCA393130083STRA6c.1562A>C (p.Asn521Thr)
c.1538A>C (p.Asn513Thr)
c.1535A>C (p.Asn512Thr)
c.1673A>C (p.Asn558Thr)
n.1271A>C
c.1679A>C (p.Asn560Thr)
c.417A>C
c.1607A>C (p.Asn536Thr)
n.1834A>C
c.1373A>C (p.Asn458Thr)
c.1610A>C (p.Asn537Thr)
gnomAD v4
15g.74181418T>ACA393130098STRA6c.1561A>T (p.Asn521Tyr)
c.1537A>T (p.Asn513Tyr)
c.1534A>T (p.Asn512Tyr)
c.1672A>T (p.Asn558Tyr)
n.1270A>T
c.1678A>T (p.Asn560Tyr)
c.416A>T
c.1606A>T (p.Asn536Tyr)
n.1833A>T
c.1372A>T (p.Asn458Tyr)
c.1609A>T (p.Asn537Tyr)
15g.74181418T>CCA393130093STRA6c.1561A>G (p.Asn521Asp)
c.1537A>G (p.Asn513Asp)
c.1534A>G (p.Asn512Asp)
c.1672A>G (p.Asn558Asp)
n.1270A>G
c.1678A>G (p.Asn560Asp)
c.416A>G
c.1606A>G (p.Asn536Asp)
n.1833A>G
c.1372A>G (p.Asn458Asp)
c.1609A>G (p.Asn537Asp)
15g.74181418T>GCA393130095STRA6c.1561A>C (p.Asn521His)
c.1537A>C (p.Asn513His)
c.1534A>C (p.Asn512His)
c.1672A>C (p.Asn558His)
n.1270A>C
c.1678A>C (p.Asn560His)
c.416A>C
c.1606A>C (p.Asn536His)
n.1833A>C
c.1372A>C (p.Asn458His)
c.1609A>C (p.Asn537His)
15g.74181419G>ACA491171438STRA6c.1560C>T (p.Leu520=)
c.1536C>T (p.Leu512=)
c.1533C>T (p.Leu511=)
c.1671C>T (p.Leu557=)
n.1269C>T
c.1677C>T (p.Leu559=)
c.415C>T
c.1605C>T (p.Leu535=)
n.1832C>T
c.1371C>T (p.Leu457=)
c.1608C>T (p.Leu536=)
dbSNP gnomAD v2
15g.74181419G>CCA491171440STRA6c.1560C>G (p.Leu520=)
c.1536C>G (p.Leu512=)
c.1533C>G (p.Leu511=)
c.1671C>G (p.Leu557=)
n.1269C>G
c.1677C>G (p.Leu559=)
c.415C>G
c.1605C>G (p.Leu535=)
n.1832C>G
c.1371C>G (p.Leu457=)
c.1608C>G (p.Leu536=)
gnomAD v4
15g.74181419G=CA2187550329STRA6c.1560C= (p.Leu520=)
c.1536C= (p.Leu512=)
c.1533C= (p.Leu511=)
c.1671C= (p.Leu557=)
n.1269C=
c.1677C= (p.Leu559=)
c.415C=
c.1605C= (p.Leu535=)
n.1832C=
c.1371C= (p.Leu457=)
c.1608C= (p.Leu536=)
15g.74181419G>TCA491171442STRA6c.1560C>A (p.Leu520=)
c.1536C>A (p.Leu512=)
c.1533C>A (p.Leu511=)
c.1671C>A (p.Leu557=)
n.1269C>A
c.1677C>A (p.Leu559=)
c.415C>A
c.1605C>A (p.Leu535=)
n.1832C>A
c.1371C>A (p.Leu457=)
c.1608C>A (p.Leu536=)
gnomAD v4
15g.74181420A>CCA393130102STRA6c.1559T>G (p.Leu520Arg)
c.1535T>G (p.Leu512Arg)
c.1532T>G (p.Leu511Arg)
c.1670T>G (p.Leu557Arg)
n.1268T>G
c.1676T>G (p.Leu559Arg)
c.414T>G
c.1604T>G (p.Leu535Arg)
n.1831T>G
c.1370T>G (p.Leu457Arg)
c.1607T>G (p.Leu536Arg)
15g.74181420A>GCA393130104STRA6c.1559T>C (p.Leu520Pro)
c.1535T>C (p.Leu512Pro)
c.1532T>C (p.Leu511Pro)
c.1670T>C (p.Leu557Pro)
n.1268T>C
c.1676T>C (p.Leu559Pro)
c.414T>C
c.1604T>C (p.Leu535Pro)
n.1831T>C
c.1370T>C (p.Leu457Pro)
c.1607T>C (p.Leu536Pro)
15g.74181420A>TCA393130108STRA6c.1559T>A (p.Leu520His)
c.1535T>A (p.Leu512His)
c.1532T>A (p.Leu511His)
c.1670T>A (p.Leu557His)
n.1268T>A
c.1676T>A (p.Leu559His)
c.414T>A
c.1604T>A (p.Leu535His)
n.1831T>A
c.1370T>A (p.Leu457His)
c.1607T>A (p.Leu536His)
15g.74181421G>ACA393130111STRA6c.1558C>T (p.Leu520Phe)
c.1534C>T (p.Leu512Phe)
c.1531C>T (p.Leu511Phe)
c.1669C>T (p.Leu557Phe)
n.1267C>T
c.1675C>T (p.Leu559Phe)
c.413C>T
c.1603C>T (p.Leu535Phe)
n.1830C>T
c.1369C>T (p.Leu457Phe)
c.1606C>T (p.Leu536Phe)
dbSNP gnomAD v3 gnomAD v4
15g.74181421G>CCA7654515STRA6c.1558C>G (p.Leu520Val)
c.1534C>G (p.Leu512Val)
c.1531C>G (p.Leu511Val)
c.1669C>G (p.Leu557Val)
n.1267C>G
c.1675C>G (p.Leu559Val)
c.413C>G
c.1603C>G (p.Leu535Val)
n.1830C>G
c.1369C>G (p.Leu457Val)
c.1606C>G (p.Leu536Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181421G=CA2187550330STRA6c.1558C= (p.Leu520=)
c.1534C= (p.Leu512=)
c.1531C= (p.Leu511=)
c.1669C= (p.Leu557=)
n.1267C=
c.1675C= (p.Leu559=)
c.413C=
c.1603C= (p.Leu535=)
n.1830C=
c.1369C= (p.Leu457=)
c.1606C= (p.Leu536=)
15g.74181421G>TCA393130115STRA6c.1558C>A (p.Leu520Ile)
c.1534C>A (p.Leu512Ile)
c.1531C>A (p.Leu511Ile)
c.1669C>A (p.Leu557Ile)
n.1267C>A
c.1675C>A (p.Leu559Ile)
c.413C>A
c.1603C>A (p.Leu535Ile)
n.1830C>A
c.1369C>A (p.Leu457Ile)
c.1606C>A (p.Leu536Ile)
gnomAD v4
15g.74181425delCA645575927STRA6c.1558del (p.Leu520SerfsTer?)
c.1534del (p.Leu512SerfsTer?)
c.1531del (p.Leu511SerfsTer?)
c.1669del (p.Leu557SerfsTer?)
n.1267del
c.1675del (p.Leu559SerfsTer?)
c.413del
c.1603del (p.Leu535SerfsTer?)
n.1830del
c.1369del (p.Leu457SerfsTer?)
c.1606del (p.Leu536SerfsTer?)
COSMIC COSMIC
15g.74181422G>ACA491171454STRA6c.1557C>T (p.Pro519=)
c.1533C>T (p.Pro511=)
c.1530C>T (p.Pro510=)
c.1668C>T (p.Pro556=)
n.1266C>T
c.1674C>T (p.Pro558=)
c.412C>T
c.1602C>T (p.Pro534=)
n.1829C>T
c.1368C>T (p.Pro456=)
c.1605C>T (p.Pro535=)
gnomAD v4
15g.74181422G>CCA491171451STRA6c.1557C>G (p.Pro519=)
c.1533C>G (p.Pro511=)
c.1530C>G (p.Pro510=)
c.1668C>G (p.Pro556=)
n.1266C>G
c.1674C>G (p.Pro558=)
c.412C>G
c.1602C>G (p.Pro534=)
n.1829C>G
c.1368C>G (p.Pro456=)
c.1605C>G (p.Pro535=)
gnomAD v4
15g.74181422G>TCA491171452STRA6c.1557C>A (p.Pro519=)
c.1533C>A (p.Pro511=)
c.1530C>A (p.Pro510=)
c.1668C>A (p.Pro556=)
n.1266C>A
c.1674C>A (p.Pro558=)
c.412C>A
c.1602C>A (p.Pro534=)
n.1829C>A
c.1368C>A (p.Pro456=)
c.1605C>A (p.Pro535=)
15g.74181423G>ACA7654516STRA6c.1556C>T (p.Pro519Leu)
c.1532C>T (p.Pro511Leu)
c.1529C>T (p.Pro510Leu)
c.1667C>T (p.Pro556Leu)
n.1265C>T
c.1673C>T (p.Pro558Leu)
c.411C>T
c.1601C>T (p.Pro534Leu)
n.1828C>T
c.1367C>T (p.Pro456Leu)
c.1604C>T (p.Pro535Leu)
dbSNP ExAC gnomAD v2
15g.74181423G>CCA393130120STRA6c.1556C>G (p.Pro519Arg)
c.1532C>G (p.Pro511Arg)
c.1529C>G (p.Pro510Arg)
c.1667C>G (p.Pro556Arg)
n.1265C>G
c.1673C>G (p.Pro558Arg)
c.411C>G
c.1601C>G (p.Pro534Arg)
n.1828C>G
c.1367C>G (p.Pro456Arg)
c.1604C>G (p.Pro535Arg)
15g.74181423G=CA2187550331STRA6c.1556C= (p.Pro519=)
c.1532C= (p.Pro511=)
c.1529C= (p.Pro510=)
c.1667C= (p.Pro556=)
n.1265C=
c.1673C= (p.Pro558=)
c.411C=
c.1601C= (p.Pro534=)
n.1828C=
c.1367C= (p.Pro456=)
c.1604C= (p.Pro535=)
15g.74181423G>TCA393130122STRA6c.1556C>A (p.Pro519His)
c.1532C>A (p.Pro511His)
c.1529C>A (p.Pro510His)
c.1667C>A (p.Pro556His)
n.1265C>A
c.1673C>A (p.Pro558His)
c.411C>A
c.1601C>A (p.Pro534His)
n.1828C>A
c.1367C>A (p.Pro456His)
c.1604C>A (p.Pro535His)
15g.74181424G>ACA393130126STRA6c.1555C>T (p.Pro519Ser)
c.1531C>T (p.Pro511Ser)
c.1528C>T (p.Pro510Ser)
c.1666C>T (p.Pro556Ser)
n.1264C>T
c.1672C>T (p.Pro558Ser)
c.410C>T
c.1600C>T (p.Pro534Ser)
n.1827C>T
c.1366C>T (p.Pro456Ser)
c.1603C>T (p.Pro535Ser)
dbSNP gnomAD v2
15g.74181424G>CCA393130129STRA6c.1555C>G (p.Pro519Ala)
c.1531C>G (p.Pro511Ala)
c.1528C>G (p.Pro510Ala)
c.1666C>G (p.Pro556Ala)
n.1264C>G
c.1672C>G (p.Pro558Ala)
c.410C>G
c.1600C>G (p.Pro534Ala)
n.1827C>G
c.1366C>G (p.Pro456Ala)
c.1603C>G (p.Pro535Ala)
gnomAD v4
15g.74181424G=CA2187550332STRA6c.1555C= (p.Pro519=)
c.1531C= (p.Pro511=)
c.1528C= (p.Pro510=)
c.1666C= (p.Pro556=)
n.1264C=
c.1672C= (p.Pro558=)
c.410C=
c.1600C= (p.Pro534=)
n.1827C=
c.1366C= (p.Pro456=)
c.1603C= (p.Pro535=)
15g.74181424G>TCA393130132STRA6c.1555C>A (p.Pro519Thr)
c.1531C>A (p.Pro511Thr)
c.1528C>A (p.Pro510Thr)
c.1666C>A (p.Pro556Thr)
n.1264C>A
c.1672C>A (p.Pro558Thr)
c.410C>A
c.1600C>A (p.Pro534Thr)
n.1827C>A
c.1366C>A (p.Pro456Thr)
c.1603C>A (p.Pro535Thr)
15g.74181425G>ACA491171461STRA6c.1554C>T (p.Phe518=)
c.1530C>T (p.Phe510=)
c.1527C>T (p.Phe509=)
c.1665C>T (p.Phe555=)
n.1263C>T
c.1671C>T (p.Phe557=)
c.409C>T
c.1599C>T (p.Phe533=)
n.1826C>T
c.1365C>T (p.Phe455=)
c.1602C>T (p.Phe534=)
gnomAD v4 COSMIC COSMIC
15g.74181425G>CCA393130135STRA6c.1554C>G (p.Phe518Leu)
c.1530C>G (p.Phe510Leu)
c.1527C>G (p.Phe509Leu)
c.1665C>G (p.Phe555Leu)
n.1263C>G
c.1671C>G (p.Phe557Leu)
c.409C>G
c.1599C>G (p.Phe533Leu)
n.1826C>G
c.1365C>G (p.Phe455Leu)
c.1602C>G (p.Phe534Leu)
15g.74181425G>TCA393130138STRA6c.1554C>A (p.Phe518Leu)
c.1530C>A (p.Phe510Leu)
c.1527C>A (p.Phe509Leu)
c.1665C>A (p.Phe555Leu)
n.1263C>A
c.1671C>A (p.Phe557Leu)
c.409C>A
c.1599C>A (p.Phe533Leu)
n.1826C>A
c.1365C>A (p.Phe455Leu)
c.1602C>A (p.Phe534Leu)
15g.74181426A=CA2187550333STRA6c.1553T= (p.Phe518=)
c.1529T= (p.Phe510=)
c.1526T= (p.Phe509=)
c.1664T= (p.Phe555=)
n.1262T=
c.1670T= (p.Phe557=)
c.408T=
c.1598T= (p.Phe533=)
n.1825T=
c.1364T= (p.Phe455=)
c.1601T= (p.Phe534=)
15g.74181426A>CCA7654517STRA6c.1553T>G (p.Phe518Cys)
c.1529T>G (p.Phe510Cys)
c.1526T>G (p.Phe509Cys)
c.1664T>G (p.Phe555Cys)
n.1262T>G
c.1670T>G (p.Phe557Cys)
c.408T>G
c.1598T>G (p.Phe533Cys)
n.1825T>G
c.1364T>G (p.Phe455Cys)
c.1601T>G (p.Phe534Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181426A>GCA393130142STRA6c.1553T>C (p.Phe518Ser)
c.1529T>C (p.Phe510Ser)
c.1526T>C (p.Phe509Ser)
c.1664T>C (p.Phe555Ser)
n.1262T>C
c.1670T>C (p.Phe557Ser)
c.408T>C
c.1598T>C (p.Phe533Ser)
n.1825T>C
c.1364T>C (p.Phe455Ser)
c.1601T>C (p.Phe534Ser)
15g.74181426A>TCA393130146STRA6c.1553T>A (p.Phe518Tyr)
c.1529T>A (p.Phe510Tyr)
c.1526T>A (p.Phe509Tyr)
c.1664T>A (p.Phe555Tyr)
n.1262T>A
c.1670T>A (p.Phe557Tyr)
c.408T>A
c.1598T>A (p.Phe533Tyr)
n.1825T>A
c.1364T>A (p.Phe455Tyr)
c.1601T>A (p.Phe534Tyr)
15g.74181427A>CCA393130149STRA6c.1552T>G (p.Phe518Val)
c.1528T>G (p.Phe510Val)
c.1525T>G (p.Phe509Val)
c.1663T>G (p.Phe555Val)
n.1261T>G
c.1669T>G (p.Phe557Val)
c.407T>G
c.1597T>G (p.Phe533Val)
n.1824T>G
c.1363T>G (p.Phe455Val)
c.1600T>G (p.Phe534Val)
15g.74181427A>GCA393130152STRA6c.1552T>C (p.Phe518Leu)
c.1528T>C (p.Phe510Leu)
c.1525T>C (p.Phe509Leu)
c.1663T>C (p.Phe555Leu)
n.1261T>C
c.1669T>C (p.Phe557Leu)
c.407T>C
c.1597T>C (p.Phe533Leu)
n.1824T>C
c.1363T>C (p.Phe455Leu)
c.1600T>C (p.Phe534Leu)
15g.74181427A>TCA393130155STRA6c.1552T>A (p.Phe518Ile)
c.1528T>A (p.Phe510Ile)
c.1525T>A (p.Phe509Ile)
c.1663T>A (p.Phe555Ile)
n.1261T>A
c.1669T>A (p.Phe557Ile)
c.407T>A
c.1597T>A (p.Phe533Ile)
n.1824T>A
c.1363T>A (p.Phe455Ile)
c.1600T>A (p.Phe534Ile)
15g.74181428G>ACA491171472STRA6c.1551C>T (p.Leu517=)
c.1527C>T (p.Leu509=)
c.1524C>T (p.Leu508=)
c.1662C>T (p.Leu554=)
n.1260C>T
c.1668C>T (p.Leu556=)
c.406C>T
c.1596C>T (p.Leu532=)
n.1823C>T
c.1362C>T (p.Leu454=)
c.1599C>T (p.Leu533=)
15g.74181428G>CCA491171474STRA6c.1551C>G (p.Leu517=)
c.1527C>G (p.Leu509=)
c.1524C>G (p.Leu508=)
c.1662C>G (p.Leu554=)
n.1260C>G
c.1668C>G (p.Leu556=)
c.406C>G
c.1596C>G (p.Leu532=)
n.1823C>G
c.1362C>G (p.Leu454=)
c.1599C>G (p.Leu533=)
15g.74181428G>TCA491171476STRA6c.1551C>A (p.Leu517=)
c.1527C>A (p.Leu509=)
c.1524C>A (p.Leu508=)
c.1662C>A (p.Leu554=)
n.1260C>A
c.1668C>A (p.Leu556=)
c.406C>A
c.1596C>A (p.Leu532=)
n.1823C>A
c.1362C>A (p.Leu454=)
c.1599C>A (p.Leu533=)
15g.74181429A>CCA393130158STRA6c.1550T>G (p.Leu517Arg)
c.1526T>G (p.Leu509Arg)
c.1523T>G (p.Leu508Arg)
c.1661T>G (p.Leu554Arg)
n.1259T>G
c.1667T>G (p.Leu556Arg)
c.405T>G
c.1595T>G (p.Leu532Arg)
n.1822T>G
c.1361T>G (p.Leu454Arg)
c.1598T>G (p.Leu533Arg)
15g.74181429A>GCA393130162STRA6c.1550T>C (p.Leu517Pro)
c.1526T>C (p.Leu509Pro)
c.1523T>C (p.Leu508Pro)
c.1661T>C (p.Leu554Pro)
n.1259T>C
c.1667T>C (p.Leu556Pro)
c.405T>C
c.1595T>C (p.Leu532Pro)
n.1822T>C
c.1361T>C (p.Leu454Pro)
c.1598T>C (p.Leu533Pro)
15g.74181429A>TCA393130165STRA6c.1550T>A (p.Leu517His)
c.1526T>A (p.Leu509His)
c.1523T>A (p.Leu508His)
c.1661T>A (p.Leu554His)
n.1259T>A
c.1667T>A (p.Leu556His)
c.405T>A
c.1595T>A (p.Leu532His)
n.1822T>A
c.1361T>A (p.Leu454His)
c.1598T>A (p.Leu533His)
15g.74181430G>ACA272747092STRA6c.1549C>T (p.Leu517Phe)
c.1525C>T (p.Leu509Phe)
c.1522C>T (p.Leu508Phe)
c.1660C>T (p.Leu554Phe)
n.1258C>T
c.1666C>T (p.Leu556Phe)
c.404C>T
c.1594C>T (p.Leu532Phe)
n.1821C>T
c.1360C>T (p.Leu454Phe)
c.1597C>T (p.Leu533Phe)
dbSNP
15g.74181430G>CCA393130169STRA6c.1549C>G (p.Leu517Val)
c.1525C>G (p.Leu509Val)
c.1522C>G (p.Leu508Val)
c.1660C>G (p.Leu554Val)
n.1258C>G
c.1666C>G (p.Leu556Val)
c.404C>G
c.1594C>G (p.Leu532Val)
n.1821C>G
c.1360C>G (p.Leu454Val)
c.1597C>G (p.Leu533Val)
15g.74181430G=CA2187550334STRA6c.1549C= (p.Leu517=)
c.1525C= (p.Leu509=)
c.1522C= (p.Leu508=)
c.1660C= (p.Leu554=)
n.1258C=
c.1666C= (p.Leu556=)
c.404C=
c.1594C= (p.Leu532=)
n.1821C=
c.1360C= (p.Leu454=)
c.1597C= (p.Leu533=)
15g.74181430G>TCA393130173STRA6c.1549C>A (p.Leu517Ile)
c.1525C>A (p.Leu509Ile)
c.1522C>A (p.Leu508Ile)
c.1660C>A (p.Leu554Ile)
n.1258C>A
c.1666C>A (p.Leu556Ile)
c.404C>A
c.1594C>A (p.Leu532Ile)
n.1821C>A
c.1360C>A (p.Leu454Ile)
c.1597C>A (p.Leu533Ile)
15g.74181431A>CCA491171484STRA6c.1548T>G (p.Leu516=)
c.1524T>G (p.Leu508=)
c.1521T>G (p.Leu507=)
c.1659T>G (p.Leu553=)
n.1257T>G
c.1665T>G (p.Leu555=)
c.403T>G
c.1593T>G (p.Leu531=)
n.1820T>G
c.1359T>G (p.Leu453=)
c.1596T>G (p.Leu532=)
gnomAD v4
15g.74181431A>GCA491171486STRA6c.1548T>C (p.Leu516=)
c.1524T>C (p.Leu508=)
c.1521T>C (p.Leu507=)
c.1659T>C (p.Leu553=)
n.1257T>C
c.1665T>C (p.Leu555=)
c.403T>C
c.1593T>C (p.Leu531=)
n.1820T>C
c.1359T>C (p.Leu453=)
c.1596T>C (p.Leu532=)
15g.74181431A>TCA491171488STRA6c.1548T>A (p.Leu516=)
c.1524T>A (p.Leu508=)
c.1521T>A (p.Leu507=)
c.1659T>A (p.Leu553=)
n.1257T>A
c.1665T>A (p.Leu555=)
c.403T>A
c.1593T>A (p.Leu531=)
n.1820T>A
c.1359T>A (p.Leu453=)
c.1596T>A (p.Leu532=)
15g.74181432A>CCA393130179STRA6c.1547T>G (p.Leu516Arg)
c.1523T>G (p.Leu508Arg)
c.1520T>G (p.Leu507Arg)
c.1658T>G (p.Leu553Arg)
n.1256T>G
c.1664T>G (p.Leu555Arg)
c.402T>G
c.1592T>G (p.Leu531Arg)
n.1819T>G
c.1358T>G (p.Leu453Arg)
c.1595T>G (p.Leu532Arg)
15g.74181432A>GCA393130182STRA6c.1547T>C (p.Leu516Pro)
c.1523T>C (p.Leu508Pro)
c.1520T>C (p.Leu507Pro)
c.1658T>C (p.Leu553Pro)
n.1256T>C
c.1664T>C (p.Leu555Pro)
c.402T>C
c.1592T>C (p.Leu531Pro)
n.1819T>C
c.1358T>C (p.Leu453Pro)
c.1595T>C (p.Leu532Pro)
15g.74181432A>TCA393130177STRA6c.1547T>A (p.Leu516His)
c.1523T>A (p.Leu508His)
c.1520T>A (p.Leu507His)
c.1658T>A (p.Leu553His)
n.1256T>A
c.1664T>A (p.Leu555His)
c.402T>A
c.1592T>A (p.Leu531His)
n.1819T>A
c.1358T>A (p.Leu453His)
c.1595T>A (p.Leu532His)
15g.74181433G>ACA393130185STRA6c.1546C>T (p.Leu516Phe)
c.1522C>T (p.Leu508Phe)
c.1519C>T (p.Leu507Phe)
c.1657C>T (p.Leu553Phe)
n.1255C>T
c.1663C>T (p.Leu555Phe)
c.401C>T
c.1591C>T (p.Leu531Phe)
n.1818C>T
c.1357C>T (p.Leu453Phe)
c.1594C>T (p.Leu532Phe)
15g.74181433G>CCA393130189STRA6c.1546C>G (p.Leu516Val)
c.1522C>G (p.Leu508Val)
c.1519C>G (p.Leu507Val)
c.1657C>G (p.Leu553Val)
n.1255C>G
c.1663C>G (p.Leu555Val)
c.401C>G
c.1591C>G (p.Leu531Val)
n.1818C>G
c.1357C>G (p.Leu453Val)
c.1594C>G (p.Leu532Val)
15g.74181433G>TCA393130187STRA6c.1546C>A (p.Leu516Ile)
c.1522C>A (p.Leu508Ile)
c.1519C>A (p.Leu507Ile)
c.1657C>A (p.Leu553Ile)
n.1255C>A
c.1663C>A (p.Leu555Ile)
c.401C>A
c.1591C>A (p.Leu531Ile)
n.1818C>A
c.1357C>A (p.Leu453Ile)
c.1594C>A (p.Leu532Ile)
15g.74181434A>CCA393130192STRA6c.1545T>G (p.Phe515Leu)
c.1521T>G (p.Phe507Leu)
c.1518T>G (p.Phe506Leu)
c.1656T>G (p.Phe552Leu)
n.1254T>G
c.1662T>G (p.Phe554Leu)
c.400T>G
c.1590T>G (p.Phe530Leu)
n.1817T>G
c.1356T>G (p.Phe452Leu)
c.1593T>G (p.Phe531Leu)
15g.74181434A>GCA491171497STRA6c.1545T>C (p.Phe515=)
c.1521T>C (p.Phe507=)
c.1518T>C (p.Phe506=)
c.1656T>C (p.Phe552=)
n.1254T>C
c.1662T>C (p.Phe554=)
c.400T>C
c.1590T>C (p.Phe530=)
n.1817T>C
c.1356T>C (p.Phe452=)
c.1593T>C (p.Phe531=)
15g.74181434A>TCA393130194STRA6c.1545T>A (p.Phe515Leu)
c.1521T>A (p.Phe507Leu)
c.1518T>A (p.Phe506Leu)
c.1656T>A (p.Phe552Leu)
n.1254T>A
c.1662T>A (p.Phe554Leu)
c.400T>A
c.1590T>A (p.Phe530Leu)
n.1817T>A
c.1356T>A (p.Phe452Leu)
c.1593T>A (p.Phe531Leu)
15g.74181435A=CA2187550335STRA6c.1544T= (p.Phe515=)
c.1520T= (p.Phe507=)
c.1517T= (p.Phe506=)
c.1655T= (p.Phe552=)
n.1253T=
c.1661T= (p.Phe554=)
c.399T=
c.1589T= (p.Phe530=)
n.1816T=
c.1355T= (p.Phe452=)
c.1592T= (p.Phe531=)
15g.74181435A>CCA272747094STRA6c.1544T>G (p.Phe515Cys)
c.1520T>G (p.Phe507Cys)
c.1517T>G (p.Phe506Cys)
c.1655T>G (p.Phe552Cys)
n.1253T>G
c.1661T>G (p.Phe554Cys)
c.399T>G
c.1589T>G (p.Phe530Cys)
n.1816T>G
c.1355T>G (p.Phe452Cys)
c.1592T>G (p.Phe531Cys)
dbSNP
15g.74181435A>GCA393130198STRA6c.1544T>C (p.Phe515Ser)
c.1520T>C (p.Phe507Ser)
c.1517T>C (p.Phe506Ser)
c.1655T>C (p.Phe552Ser)
n.1253T>C
c.1661T>C (p.Phe554Ser)
c.399T>C
c.1589T>C (p.Phe530Ser)
n.1816T>C
c.1355T>C (p.Phe452Ser)
c.1592T>C (p.Phe531Ser)
15g.74181435A>TCA393130200STRA6c.1544T>A (p.Phe515Tyr)
c.1520T>A (p.Phe507Tyr)
c.1517T>A (p.Phe506Tyr)
c.1655T>A (p.Phe552Tyr)
n.1253T>A
c.1661T>A (p.Phe554Tyr)
c.399T>A
c.1589T>A (p.Phe530Tyr)
n.1816T>A
c.1355T>A (p.Phe452Tyr)
c.1592T>A (p.Phe531Tyr)
15g.74181436A>CCA393130204STRA6c.1543T>G (p.Phe515Val)
c.1519T>G (p.Phe507Val)
c.1516T>G (p.Phe506Val)
c.1654T>G (p.Phe552Val)
n.1252T>G
c.1660T>G (p.Phe554Val)
c.398T>G
c.1588T>G (p.Phe530Val)
n.1815T>G
c.1354T>G (p.Phe452Val)
c.1591T>G (p.Phe531Val)
15g.74181436A>GCA393130205STRA6c.1543T>C (p.Phe515Leu)
c.1519T>C (p.Phe507Leu)
c.1516T>C (p.Phe506Leu)
c.1654T>C (p.Phe552Leu)
n.1252T>C
c.1660T>C (p.Phe554Leu)
c.398T>C
c.1588T>C (p.Phe530Leu)
n.1815T>C
c.1354T>C (p.Phe452Leu)
c.1591T>C (p.Phe531Leu)
15g.74181436A>TCA393130207STRA6c.1543T>A (p.Phe515Ile)
c.1519T>A (p.Phe507Ile)
c.1516T>A (p.Phe506Ile)
c.1654T>A (p.Phe552Ile)
n.1252T>A
c.1660T>A (p.Phe554Ile)
c.398T>A
c.1588T>A (p.Phe530Ile)
n.1815T>A
c.1354T>A (p.Phe452Ile)
c.1591T>A (p.Phe531Ile)
15g.74181437G>ACA491171506STRA6c.1542C>T (p.Thr514=)
c.1518C>T (p.Thr506=)
c.1515C>T (p.Thr505=)
c.1653C>T (p.Thr551=)
n.1251C>T
c.1659C>T (p.Thr553=)
c.397C>T
c.1587C>T (p.Thr529=)
n.1814C>T
c.1353C>T (p.Thr451=)
c.1590C>T (p.Thr530=)
15g.74181437G>CCA7654518STRA6c.1542C>G (p.Thr514=)
c.1518C>G (p.Thr506=)
c.1515C>G (p.Thr505=)
c.1653C>G (p.Thr551=)
n.1251C>G
c.1659C>G (p.Thr553=)
c.397C>G
c.1587C>G (p.Thr529=)
n.1814C>G
c.1353C>G (p.Thr451=)
c.1590C>G (p.Thr530=)
dbSNP ExAC gnomAD v2
15g.74181437G=CA2187550336STRA6c.1542C= (p.Thr514=)
c.1518C= (p.Thr506=)
c.1515C= (p.Thr505=)
c.1653C= (p.Thr551=)
n.1251C=
c.1659C= (p.Thr553=)
c.397C=
c.1587C= (p.Thr529=)
n.1814C=
c.1353C= (p.Thr451=)
c.1590C= (p.Thr530=)
15g.74181437G>TCA491171508STRA6c.1542C>A (p.Thr514=)
c.1518C>A (p.Thr506=)
c.1515C>A (p.Thr505=)
c.1653C>A (p.Thr551=)
n.1251C>A
c.1659C>A (p.Thr553=)
c.397C>A
c.1587C>A (p.Thr529=)
n.1814C>A
c.1353C>A (p.Thr451=)
c.1590C>A (p.Thr530=)
15g.74181438G>ACA7654519STRA6c.1541C>T (p.Thr514Ile)
c.1517C>T (p.Thr506Ile)
c.1514C>T (p.Thr505Ile)
c.1652C>T (p.Thr551Ile)
n.1250C>T
c.1658C>T (p.Thr553Ile)
c.396C>T
c.1586C>T (p.Thr529Ile)
n.1813C>T
c.1352C>T (p.Thr451Ile)
c.1589C>T (p.Thr530Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181438G>CCA393130212STRA6c.1541C>G (p.Thr514Ser)
c.1517C>G (p.Thr506Ser)
c.1514C>G (p.Thr505Ser)
c.1652C>G (p.Thr551Ser)
n.1250C>G
c.1658C>G (p.Thr553Ser)
c.396C>G
c.1586C>G (p.Thr529Ser)
n.1813C>G
c.1352C>G (p.Thr451Ser)
c.1589C>G (p.Thr530Ser)
dbSNP gnomAD v2 gnomAD v4
15g.74181438G=CA2187550337STRA6c.1541C= (p.Thr514=)
c.1517C= (p.Thr506=)
c.1514C= (p.Thr505=)
c.1652C= (p.Thr551=)
n.1250C=
c.1658C= (p.Thr553=)
c.396C=
c.1586C= (p.Thr529=)
n.1813C=
c.1352C= (p.Thr451=)
c.1589C= (p.Thr530=)
15g.74181438G>TCA393130214STRA6c.1541C>A (p.Thr514Asn)
c.1517C>A (p.Thr506Asn)
c.1514C>A (p.Thr505Asn)
c.1652C>A (p.Thr551Asn)
n.1250C>A
c.1658C>A (p.Thr553Asn)
c.396C>A
c.1586C>A (p.Thr529Asn)
n.1813C>A
c.1352C>A (p.Thr451Asn)
c.1589C>A (p.Thr530Asn)
15g.74181439T>ACA393130217STRA6c.1540A>T (p.Thr514Ser)
c.1516A>T (p.Thr506Ser)
c.1513A>T (p.Thr505Ser)
c.1651A>T (p.Thr551Ser)
n.1249A>T
c.1657A>T (p.Thr553Ser)
c.395A>T
c.1585A>T (p.Thr529Ser)
n.1812A>T
c.1351A>T (p.Thr451Ser)
c.1588A>T (p.Thr530Ser)
15g.74181439T>CCA393130223STRA6c.1540A>G (p.Thr514Ala)
c.1516A>G (p.Thr506Ala)
c.1513A>G (p.Thr505Ala)
c.1651A>G (p.Thr551Ala)
n.1249A>G
c.1657A>G (p.Thr553Ala)
c.395A>G
c.1585A>G (p.Thr529Ala)
n.1812A>G
c.1351A>G (p.Thr451Ala)
c.1588A>G (p.Thr530Ala)
15g.74181439T>GCA393130219STRA6c.1540A>C (p.Thr514Pro)
c.1516A>C (p.Thr506Pro)
c.1513A>C (p.Thr505Pro)
c.1651A>C (p.Thr551Pro)
n.1249A>C
c.1657A>C (p.Thr553Pro)
c.395A>C
c.1585A>C (p.Thr529Pro)
n.1812A>C
c.1351A>C (p.Thr451Pro)
c.1588A>C (p.Thr530Pro)
15g.74181440G>ACA491171515STRA6c.1539C>T (p.Ala513=)
c.1515C>T (p.Ala505=)
c.1512C>T (p.Ala504=)
c.1650C>T (p.Ala550=)
n.1248C>T
c.1656C>T (p.Ala552=)
c.394C>T
c.1584C>T (p.Ala528=)
n.1811C>T
c.1350C>T (p.Ala450=)
c.1587C>T (p.Ala529=)
n.1622C>T
15g.74181440G>CCA491171517STRA6c.1539C>G (p.Ala513=)
c.1515C>G (p.Ala505=)
c.1512C>G (p.Ala504=)
c.1650C>G (p.Ala550=)
n.1248C>G
c.1656C>G (p.Ala552=)
c.394C>G
c.1584C>G (p.Ala528=)
n.1811C>G
c.1350C>G (p.Ala450=)
c.1587C>G (p.Ala529=)
n.1622C>G
15g.74181440G>TCA491171519STRA6c.1539C>A (p.Ala513=)
c.1515C>A (p.Ala505=)
c.1512C>A (p.Ala504=)
c.1650C>A (p.Ala550=)
n.1248C>A
c.1656C>A (p.Ala552=)
c.394C>A
c.1584C>A (p.Ala528=)
n.1811C>A
c.1350C>A (p.Ala450=)
c.1587C>A (p.Ala529=)
n.1622C>A
15g.74181441G>ACA393130226STRA6c.1538C>T (p.Ala513Val)
c.1514C>T (p.Ala505Val)
c.1511C>T (p.Ala504Val)
c.1649C>T (p.Ala550Val)
n.1247C>T
c.1655C>T (p.Ala552Val)
c.393C>T
c.1583C>T (p.Ala528Val)
n.1810C>T
c.1349C>T (p.Ala450Val)
n.1621C>T
c.1586C>T (p.Ala529Val)
15g.74181441G>CCA393130228STRA6c.1538C>G (p.Ala513Gly)
c.1514C>G (p.Ala505Gly)
c.1511C>G (p.Ala504Gly)
c.1649C>G (p.Ala550Gly)
n.1247C>G
c.1655C>G (p.Ala552Gly)
c.393C>G
c.1583C>G (p.Ala528Gly)
n.1810C>G
c.1349C>G (p.Ala450Gly)
n.1621C>G
c.1586C>G (p.Ala529Gly)
15g.74181441G>TCA393130231STRA6c.1538C>A (p.Ala513Asp)
c.1514C>A (p.Ala505Asp)
c.1511C>A (p.Ala504Asp)
c.1649C>A (p.Ala550Asp)
n.1247C>A
c.1655C>A (p.Ala552Asp)
c.393C>A
c.1583C>A (p.Ala528Asp)
n.1810C>A
c.1349C>A (p.Ala450Asp)
n.1621C>A
c.1586C>A (p.Ala529Asp)
15g.74181442C>ACA393130234STRA6c.1537G>T (p.Ala513Ser)
c.1513G>T (p.Ala505Ser)
c.1510G>T (p.Ala504Ser)
c.1648G>T (p.Ala550Ser)
n.1246G>T
c.1654G>T (p.Ala552Ser)
c.392G>T
c.1582G>T (p.Ala528Ser)
n.1809G>T
c.1348G>T (p.Ala450Ser)
n.1620G>T
c.1585G>T (p.Ala529Ser)
15g.74181442C>GCA393130236STRA6c.1537G>C (p.Ala513Pro)
c.1513G>C (p.Ala505Pro)
c.1510G>C (p.Ala504Pro)
c.1648G>C (p.Ala550Pro)
n.1246G>C
c.1654G>C (p.Ala552Pro)
c.392G>C
c.1582G>C (p.Ala528Pro)
n.1809G>C
c.1348G>C (p.Ala450Pro)
n.1620G>C
c.1585G>C (p.Ala529Pro)
15g.74181442C>TCA393130238STRA6c.1537G>A (p.Ala513Thr)
c.1513G>A (p.Ala505Thr)
c.1510G>A (p.Ala504Thr)
c.1648G>A (p.Ala550Thr)
n.1246G>A
c.1654G>A (p.Ala552Thr)
c.392G>A
c.1582G>A (p.Ala528Thr)
n.1809G>A
c.1348G>A (p.Ala450Thr)
n.1620G>A
c.1585G>A (p.Ala529Thr)
15g.74181443T>ACA491171531STRA6c.1536A>T (p.Ala512=)
c.1512A>T (p.Ala504=)
c.1509A>T (p.Ala503=)
c.1647A>T (p.Ala549=)
n.1245A>T
c.1653A>T (p.Ala551=)
c.391A>T
c.1581A>T (p.Ala527=)
n.1808A>T
c.1347A>T (p.Ala449=)
n.1619A>T
c.1584A>T (p.Ala528=)
15g.74181443T>CCA491171530STRA6c.1536A>G (p.Ala512=)
c.1512A>G (p.Ala504=)
c.1509A>G (p.Ala503=)
c.1647A>G (p.Ala549=)
n.1245A>G
c.1653A>G (p.Ala551=)
c.391A>G
c.1581A>G (p.Ala527=)
n.1808A>G
c.1347A>G (p.Ala449=)
n.1619A>G
c.1584A>G (p.Ala528=)
gnomAD v4
15g.74181443T>GCA491171528STRA6c.1536A>C (p.Ala512=)
c.1512A>C (p.Ala504=)
c.1509A>C (p.Ala503=)
c.1647A>C (p.Ala549=)
n.1245A>C
c.1653A>C (p.Ala551=)
c.391A>C
c.1581A>C (p.Ala527=)
n.1808A>C
c.1347A>C (p.Ala449=)
n.1619A>C
c.1584A>C (p.Ala528=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74181443T=CA2187550338STRA6c.1536A= (p.Ala512=)
c.1512A= (p.Ala504=)
c.1509A= (p.Ala503=)
c.1647A= (p.Ala549=)
n.1245A=
c.1653A= (p.Ala551=)
c.391A=
c.1581A= (p.Ala527=)
n.1808A=
c.1347A= (p.Ala449=)
n.1619A=
c.1584A= (p.Ala528=)
15g.74181444G>ACA393130241STRA6c.1535C>T (p.Ala512Val)
c.1511C>T (p.Ala504Val)
c.1508C>T (p.Ala503Val)
c.1646C>T (p.Ala549Val)
n.1244C>T
c.1652C>T (p.Ala551Val)
c.390C>T
c.1580C>T (p.Ala527Val)
n.1807C>T
c.1346C>T (p.Ala449Val)
n.1618C>T
c.1583C>T (p.Ala528Val)
gnomAD v4
15g.74181444G>CCA393130244STRA6c.1535C>G (p.Ala512Gly)
c.1511C>G (p.Ala504Gly)
c.1508C>G (p.Ala503Gly)
c.1646C>G (p.Ala549Gly)
n.1244C>G
c.1652C>G (p.Ala551Gly)
c.390C>G
c.1580C>G (p.Ala527Gly)
n.1807C>G
c.1346C>G (p.Ala449Gly)
n.1618C>G
c.1583C>G (p.Ala528Gly)
15g.74181444G>TCA393130246STRA6c.1535C>A (p.Ala512Glu)
c.1511C>A (p.Ala504Glu)
c.1508C>A (p.Ala503Glu)
c.1646C>A (p.Ala549Glu)
n.1244C>A
c.1652C>A (p.Ala551Glu)
c.390C>A
c.1580C>A (p.Ala527Glu)
n.1807C>A
c.1346C>A (p.Ala449Glu)
n.1618C>A
c.1583C>A (p.Ala528Glu)
15g.74181445C>ACA393130252STRA6c.1534G>T (p.Ala512Ser)
c.1510G>T (p.Ala504Ser)
c.1507G>T (p.Ala503Ser)
c.1645G>T (p.Ala549Ser)
n.1243G>T
c.1651G>T (p.Ala551Ser)
c.389G>T
c.1579G>T (p.Ala527Ser)
n.1806G>T
c.1345G>T (p.Ala449Ser)
n.1617G>T
c.1582G>T (p.Ala528Ser)
15g.74181445C>GCA393130253STRA6c.1534G>C (p.Ala512Pro)
c.1510G>C (p.Ala504Pro)
c.1507G>C (p.Ala503Pro)
c.1645G>C (p.Ala549Pro)
n.1243G>C
c.1651G>C (p.Ala551Pro)
c.389G>C
c.1579G>C (p.Ala527Pro)
n.1806G>C
c.1345G>C (p.Ala449Pro)
n.1617G>C
c.1582G>C (p.Ala528Pro)
15g.74181445C>TCA393130250STRA6c.1534G>A (p.Ala512Thr)
c.1510G>A (p.Ala504Thr)
c.1507G>A (p.Ala503Thr)
c.1645G>A (p.Ala549Thr)
n.1243G>A
c.1651G>A (p.Ala551Thr)
c.389G>A
c.1579G>A (p.Ala527Thr)
n.1806G>A
c.1345G>A (p.Ala449Thr)
n.1617G>A
c.1582G>A (p.Ala528Thr)
15g.74181446A>CCA393130256STRA6c.1533T>G (p.Tyr511Ter)
c.1509T>G (p.Tyr503Ter)
c.1506T>G (p.Tyr502Ter)
c.1644T>G (p.Tyr548Ter)
n.1242T>G
c.1650T>G (p.Tyr550Ter)
c.388T>G
c.1578T>G (p.Tyr526Ter)
n.1805T>G
c.1344T>G (p.Tyr448Ter)
n.1616T>G
c.1581T>G (p.Tyr527Ter)
15g.74181446A>GCA491171539STRA6c.1533T>C (p.Tyr511=)
c.1509T>C (p.Tyr503=)
c.1506T>C (p.Tyr502=)
c.1644T>C (p.Tyr548=)
n.1242T>C
c.1650T>C (p.Tyr550=)
c.388T>C
c.1578T>C (p.Tyr526=)
n.1805T>C
c.1344T>C (p.Tyr448=)
n.1616T>C
c.1581T>C (p.Tyr527=)
gnomAD v4
15g.74181446A>TCA393130258STRA6c.1533T>A (p.Tyr511Ter)
c.1509T>A (p.Tyr503Ter)
c.1506T>A (p.Tyr502Ter)
c.1644T>A (p.Tyr548Ter)
n.1242T>A
c.1650T>A (p.Tyr550Ter)
c.388T>A
c.1578T>A (p.Tyr526Ter)
n.1805T>A
c.1344T>A (p.Tyr448Ter)
n.1616T>A
c.1581T>A (p.Tyr527Ter)
15g.74181447T>ACA393130261STRA6c.1532A>T (p.Tyr511Phe)
c.1508A>T (p.Tyr503Phe)
c.1505A>T (p.Tyr502Phe)
c.1643A>T (p.Tyr548Phe)
n.1241A>T
c.1649A>T (p.Tyr550Phe)
c.387A>T
c.1577A>T (p.Tyr526Phe)
n.1804A>T
c.1343A>T (p.Tyr448Phe)
n.1615A>T
c.1580A>T (p.Tyr527Phe)
15g.74181447T>CCA7654520STRA6c.1532A>G (p.Tyr511Cys)
c.1508A>G (p.Tyr503Cys)
c.1505A>G (p.Tyr502Cys)
c.1643A>G (p.Tyr548Cys)
n.1241A>G
c.1649A>G (p.Tyr550Cys)
c.387A>G
c.1577A>G (p.Tyr526Cys)
n.1804A>G
c.1343A>G (p.Tyr448Cys)
n.1615A>G
c.1580A>G (p.Tyr527Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181447T>GCA393130265STRA6c.1532A>C (p.Tyr511Ser)
c.1508A>C (p.Tyr503Ser)
c.1505A>C (p.Tyr502Ser)
c.1643A>C (p.Tyr548Ser)
n.1241A>C
c.1649A>C (p.Tyr550Ser)
c.387A>C
c.1577A>C (p.Tyr526Ser)
n.1804A>C
c.1343A>C (p.Tyr448Ser)
n.1615A>C
c.1580A>C (p.Tyr527Ser)
15g.74181447T=CA2187550339STRA6c.1532A= (p.Tyr511=)
c.1508A= (p.Tyr503=)
c.1505A= (p.Tyr502=)
c.1643A= (p.Tyr548=)
n.1241A=
c.1649A= (p.Tyr550=)
c.387A=
c.1577A= (p.Tyr526=)
n.1804A=
c.1343A= (p.Tyr448=)
n.1615A=
c.1580A= (p.Tyr527=)
15g.74181448A>CCA393130267STRA6c.1531T>G (p.Tyr511Asp)
c.1507T>G (p.Tyr503Asp)
c.1504T>G (p.Tyr502Asp)
c.1642T>G (p.Tyr548Asp)
n.1240T>G
c.1648T>G (p.Tyr550Asp)
c.386T>G
c.1576T>G (p.Tyr526Asp)
n.1803T>G
c.1342T>G (p.Tyr448Asp)
n.1614T>G
c.1579T>G (p.Tyr527Asp)
15g.74181448A>GCA393130269STRA6c.1531T>C (p.Tyr511His)
c.1507T>C (p.Tyr503His)
c.1504T>C (p.Tyr502His)
c.1642T>C (p.Tyr548His)
n.1240T>C
c.1648T>C (p.Tyr550His)
c.386T>C
c.1576T>C (p.Tyr526His)
n.1803T>C
c.1342T>C (p.Tyr448His)
n.1614T>C
c.1579T>C (p.Tyr527His)
15g.74181448A>TCA393130271STRA6c.1531T>A (p.Tyr511Asn)
c.1507T>A (p.Tyr503Asn)
c.1504T>A (p.Tyr502Asn)
c.1642T>A (p.Tyr548Asn)
n.1240T>A
c.1648T>A (p.Tyr550Asn)
c.386T>A
c.1576T>A (p.Tyr526Asn)
n.1803T>A
c.1342T>A (p.Tyr448Asn)
n.1614T>A
c.1579T>A (p.Tyr527Asn)
15g.74181450_74181451delCA2629452565STRA6c.1530_1531del (p.Tyr511CysfsTer?)
c.1506_1507del (p.Tyr503CysfsTer?)
c.1503_1504del (p.Tyr502CysfsTer?)
c.1641_1642del (p.Tyr548CysfsTer?)
n.1239_1240del
c.1647_1648del (p.Tyr550CysfsTer?)
c.385_386del
c.1575_1576del (p.Tyr526CysfsTer?)
n.1802_1803del
c.1341_1342del (p.Tyr448CysfsTer?)
n.1613_1614del
c.1578_1579del (p.Tyr527CysfsTer?)
gnomAD v4
15g.74181449G>ACA491171549STRA6c.1530C>T (p.Leu510=)
c.1506C>T (p.Leu502=)
c.1503C>T (p.Leu501=)
c.1641C>T (p.Leu547=)
n.1239C>T
c.1647C>T (p.Leu549=)
c.385C>T
c.1575C>T (p.Leu525=)
n.1802C>T
c.1341C>T (p.Leu447=)
n.1613C>T
c.1578C>T (p.Leu526=)
15g.74181449G>CCA7654521STRA6c.1530C>G (p.Leu510=)
c.1506C>G (p.Leu502=)
c.1503C>G (p.Leu501=)
c.1641C>G (p.Leu547=)
n.1239C>G
c.1647C>G (p.Leu549=)
c.385C>G
c.1575C>G (p.Leu525=)
n.1802C>G
c.1341C>G (p.Leu447=)
n.1613C>G
c.1578C>G (p.Leu526=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74181449G=CA2187550340STRA6c.1530C= (p.Leu510=)
c.1506C= (p.Leu502=)
c.1503C= (p.Leu501=)
c.1641C= (p.Leu547=)
n.1239C=
c.1647C= (p.Leu549=)
c.385C=
c.1575C= (p.Leu525=)
n.1802C=
c.1341C= (p.Leu447=)
n.1613C=
c.1578C= (p.Leu526=)
15g.74181449G>TCA491171551STRA6c.1530C>A (p.Leu510=)
c.1506C>A (p.Leu502=)
c.1503C>A (p.Leu501=)
c.1641C>A (p.Leu547=)
n.1239C>A
c.1647C>A (p.Leu549=)
c.385C>A
c.1575C>A (p.Leu525=)
n.1802C>A
c.1341C>A (p.Leu447=)
n.1613C>A
c.1578C>A (p.Leu526=)
15g.74181450A>CCA393130276STRA6c.1529T>G (p.Leu510Arg)
c.1505T>G (p.Leu502Arg)
c.1502T>G (p.Leu501Arg)
c.1640T>G (p.Leu547Arg)
n.1238T>G
c.1646T>G (p.Leu549Arg)
c.384T>G
c.1574T>G (p.Leu525Arg)
n.1801T>G
c.1340T>G (p.Leu447Arg)
n.1612T>G
c.1577T>G (p.Leu526Arg)
15g.74181450A>GCA393130278STRA6c.1529T>C (p.Leu510Pro)
c.1505T>C (p.Leu502Pro)
c.1502T>C (p.Leu501Pro)
c.1640T>C (p.Leu547Pro)
n.1238T>C
c.1646T>C (p.Leu549Pro)
c.384T>C
c.1574T>C (p.Leu525Pro)
n.1801T>C
c.1340T>C (p.Leu447Pro)
n.1612T>C
c.1577T>C (p.Leu526Pro)
15g.74181450A>TCA393130281STRA6c.1529T>A (p.Leu510His)
c.1505T>A (p.Leu502His)
c.1502T>A (p.Leu501His)
c.1640T>A (p.Leu547His)
n.1238T>A
c.1646T>A (p.Leu549His)
c.384T>A
c.1574T>A (p.Leu525His)
n.1801T>A
c.1340T>A (p.Leu447His)
n.1612T>A
c.1577T>A (p.Leu526His)
15g.74181450_74181451delinsAGCA2187550341STRA6c.1528_1529delinsCT (p.Leu510=)
c.1504_1505delinsCT (p.Leu502=)
c.1501_1502delinsCT (p.Leu501=)
c.1639_1640delinsCT (p.Leu547=)
n.1237_1238delinsCT
c.1645_1646delinsCT (p.Leu549=)
c.383_384delinsCT
c.1573_1574delinsCT (p.Leu525=)
n.1800_1801delinsCT
c.1339_1340delinsCT (p.Leu447=)
n.1611_1612delinsCT
c.1576_1577delinsCT (p.Leu526=)
15g.74181451delCA619109626STRA6c.1528del (p.Leu510SerfsTer?)
c.1504del (p.Leu502SerfsTer?)
c.1501del (p.Leu501SerfsTer?)
c.1639del (p.Leu547SerfsTer?)
n.1237del
c.1645del (p.Leu549SerfsTer?)
c.383del
c.1573del (p.Leu525SerfsTer?)
n.1800del
c.1339del (p.Leu447SerfsTer?)
n.1611del
c.1576del (p.Leu526SerfsTer?)
dbSNP gnomAD v2 gnomAD v4
15g.74181451G>ACA393130291STRA6c.1528C>T (p.Leu510Phe)
c.1504C>T (p.Leu502Phe)
c.1501C>T (p.Leu501Phe)
c.1639C>T (p.Leu547Phe)
n.1237C>T
c.1645C>T (p.Leu549Phe)
c.383C>T
c.1573C>T (p.Leu525Phe)
n.1800C>T
c.1339C>T (p.Leu447Phe)
n.1611C>T
c.1576C>T (p.Leu526Phe)
15g.74181451G>CCA393130285STRA6c.1528C>G (p.Leu510Val)
c.1504C>G (p.Leu502Val)
c.1501C>G (p.Leu501Val)
c.1639C>G (p.Leu547Val)
n.1237C>G
c.1645C>G (p.Leu549Val)
c.383C>G
c.1573C>G (p.Leu525Val)
n.1800C>G
c.1339C>G (p.Leu447Val)
n.1611C>G
c.1576C>G (p.Leu526Val)
15g.74181451G=CA2187550342STRA6c.1528C= (p.Leu510=)
c.1504C= (p.Leu502=)
c.1501C= (p.Leu501=)
c.1639C= (p.Leu547=)
n.1237C=
c.1645C= (p.Leu549=)
c.383C=
c.1573C= (p.Leu525=)
n.1800C=
c.1339C= (p.Leu447=)
n.1611C=
c.1576C= (p.Leu526=)
15g.74181451G>TCA393130288STRA6c.1528C>A (p.Leu510Ile)
c.1504C>A (p.Leu502Ile)
c.1501C>A (p.Leu501Ile)
c.1639C>A (p.Leu547Ile)
n.1237C>A
c.1645C>A (p.Leu549Ile)
c.383C>A
c.1573C>A (p.Leu525Ile)
n.1800C>A
c.1339C>A (p.Leu447Ile)
n.1611C>A
c.1576C>A (p.Leu526Ile)
dbSNP gnomAD v3 gnomAD v4
15g.74181452C>ACA491171558STRA6c.1527G>T (p.Val509=)
c.1503G>T (p.Val501=)
c.1500G>T (p.Val500=)
c.1638G>T (p.Val546=)
n.1236G>T
c.1644G>T (p.Val548=)
c.382G>T
c.1572G>T (p.Val524=)
n.1799G>T
c.1338G>T (p.Val446=)
n.1610G>T
c.1575G>T (p.Val525=)
15g.74181452C=CA2187550343STRA6c.1527G= (p.Val509=)
c.1503G= (p.Val501=)
c.1500G= (p.Val500=)
c.1638G= (p.Val546=)
n.1236G=
c.1644G= (p.Val548=)
c.382G=
c.1572G= (p.Val524=)
n.1799G=
c.1338G= (p.Val446=)
n.1610G=
c.1575G= (p.Val525=)
15g.74181452C>GCA491171560STRA6c.1527G>C (p.Val509=)
c.1503G>C (p.Val501=)
c.1500G>C (p.Val500=)
c.1638G>C (p.Val546=)
n.1236G>C
c.1644G>C (p.Val548=)
c.382G>C
c.1572G>C (p.Val524=)
n.1799G>C
c.1338G>C (p.Val446=)
n.1610G>C
c.1575G>C (p.Val525=)
15g.74181452C>TCA7654522STRA6c.1527G>A (p.Val509=)
c.1503G>A (p.Val501=)
c.1500G>A (p.Val500=)
c.1638G>A (p.Val546=)
n.1236G>A
c.1644G>A (p.Val548=)
c.382G>A
c.1572G>A (p.Val524=)
n.1799G>A
c.1338G>A (p.Val446=)
n.1610G>A
c.1575G>A (p.Val525=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74181453A>CCA393130298STRA6c.1526T>G (p.Val509Gly)
c.1502T>G (p.Val501Gly)
c.1499T>G (p.Val500Gly)
c.1637T>G (p.Val546Gly)
n.1235T>G
c.1643T>G (p.Val548Gly)
c.381T>G
c.1571T>G (p.Val524Gly)
n.1798T>G
c.1337T>G (p.Val446Gly)
n.1609T>G
c.1574T>G (p.Val525Gly)
15g.74181453A>GCA393130301STRA6c.1526T>C (p.Val509Ala)
c.1502T>C (p.Val501Ala)
c.1499T>C (p.Val500Ala)
c.1637T>C (p.Val546Ala)
n.1235T>C
c.1643T>C (p.Val548Ala)
c.381T>C
c.1571T>C (p.Val524Ala)
n.1798T>C
c.1337T>C (p.Val446Ala)
n.1609T>C
c.1574T>C (p.Val525Ala)
gnomAD v4
15g.74181453A>TCA393130303STRA6c.1526T>A (p.Val509Glu)
c.1502T>A (p.Val501Glu)
c.1499T>A (p.Val500Glu)
c.1637T>A (p.Val546Glu)
n.1235T>A
c.1643T>A (p.Val548Glu)
c.381T>A
c.1571T>A (p.Val524Glu)
n.1798T>A
c.1337T>A (p.Val446Glu)
n.1609T>A
c.1574T>A (p.Val525Glu)
15g.74181454C>ACA393130308STRA6c.1525G>T (p.Val509Leu)
c.1501G>T (p.Val501Leu)
c.1498G>T (p.Val500Leu)
c.1636G>T (p.Val546Leu)
n.1234G>T
c.1642G>T (p.Val548Leu)
c.380G>T
c.1570G>T (p.Val524Leu)
n.1797G>T
c.1336G>T (p.Val446Leu)
n.1608G>T
c.1573G>T (p.Val525Leu)
15g.74181454C>GCA393130310STRA6c.1525G>C (p.Val509Leu)
c.1501G>C (p.Val501Leu)
c.1498G>C (p.Val500Leu)
c.1636G>C (p.Val546Leu)
n.1234G>C
c.1642G>C (p.Val548Leu)
c.380G>C
c.1570G>C (p.Val524Leu)
n.1797G>C
c.1336G>C (p.Val446Leu)
n.1608G>C
c.1573G>C (p.Val525Leu)
15g.74181454C>TCA393130313STRA6c.1525G>A (p.Val509Met)
c.1501G>A (p.Val501Met)
c.1498G>A (p.Val500Met)
c.1636G>A (p.Val546Met)
n.1234G>A
c.1642G>A (p.Val548Met)
c.380G>A
c.1570G>A (p.Val524Met)
n.1797G>A
c.1336G>A (p.Val446Met)
n.1608G>A
c.1573G>A (p.Val525Met)
15g.74181455T>ACA491171569STRA6c.1524A>T (p.Arg508=)
c.1500A>T (p.Arg500=)
c.1497A>T (p.Arg499=)
c.1635A>T (p.Arg545=)
n.1233A>T
c.1641A>T (p.Arg547=)
c.379A>T
c.1569A>T (p.Arg523=)
n.1796A>T
c.1335A>T (p.Arg445=)
n.1607A>T
c.1572A>T (p.Arg524=)
15g.74181455T>CCA491171571STRA6c.1524A>G (p.Arg508=)
c.1500A>G (p.Arg500=)
c.1497A>G (p.Arg499=)
c.1635A>G (p.Arg545=)
n.1233A>G
c.1641A>G (p.Arg547=)
c.379A>G
c.1569A>G (p.Arg523=)
n.1796A>G
c.1335A>G (p.Arg445=)
n.1607A>G
c.1572A>G (p.Arg524=)
15g.74181455T>GCA491171572STRA6c.1524A>C (p.Arg508=)
c.1500A>C (p.Arg500=)
c.1497A>C (p.Arg499=)
c.1635A>C (p.Arg545=)
n.1233A>C
c.1641A>C (p.Arg547=)
c.379A>C
c.1569A>C (p.Arg523=)
n.1796A>C
c.1335A>C (p.Arg445=)
n.1607A>C
c.1572A>C (p.Arg524=)
15g.74181456C>ACA393130314STRA6c.1523G>T (p.Arg508Leu)
c.1499G>T (p.Arg500Leu)
c.1496G>T (p.Arg499Leu)
c.1634G>T (p.Arg545Leu)
n.1232G>T
c.1640G>T (p.Arg547Leu)
c.378G>T
c.1568G>T (p.Arg523Leu)
n.1795G>T
c.1334G>T (p.Arg445Leu)
n.1606G>T
c.1571G>T (p.Arg524Leu)
15g.74181456C=CA2187550344STRA6c.1523G= (p.Arg508=)
c.1499G= (p.Arg500=)
c.1496G= (p.Arg499=)
c.1634G= (p.Arg545=)
n.1232G=
c.1640G= (p.Arg547=)
c.378G=
c.1568G= (p.Arg523=)
n.1795G=
c.1334G= (p.Arg445=)
n.1606G=
c.1571G= (p.Arg524=)
15g.74181456C>GCA393130315STRA6c.1523G>C (p.Arg508Pro)
c.1499G>C (p.Arg500Pro)
c.1496G>C (p.Arg499Pro)
c.1634G>C (p.Arg545Pro)
n.1232G>C
c.1640G>C (p.Arg547Pro)
c.378G>C
c.1568G>C (p.Arg523Pro)
n.1795G>C
c.1334G>C (p.Arg445Pro)
n.1606G>C
c.1571G>C (p.Arg524Pro)
15g.74181456C>TCA7654523STRA6c.1523G>A (p.Arg508Gln)
c.1499G>A (p.Arg500Gln)
c.1496G>A (p.Arg499Gln)
c.1634G>A (p.Arg545Gln)
n.1232G>A
c.1640G>A (p.Arg547Gln)
c.378G>A
c.1568G>A (p.Arg523Gln)
n.1795G>A
c.1334G>A (p.Arg445Gln)
n.1606G>A
c.1571G>A (p.Arg524Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
15g.74181457G>ACA393130316STRA6c.1522C>T (p.Arg508Ter)
c.1498C>T (p.Arg500Ter)
c.1495C>T (p.Arg499Ter)
c.1633C>T (p.Arg545Ter)
n.1231C>T
c.1639C>T (p.Arg547Ter)
c.377C>T
c.1567C>T (p.Arg523Ter)
n.1794C>T
c.1333C>T (p.Arg445Ter)
n.1605C>T
c.1570C>T (p.Arg524Ter)
dbSNP gnomAD v2 gnomAD v4
15g.74181457G>CCA393130318STRA6c.1522C>G (p.Arg508Gly)
c.1498C>G (p.Arg500Gly)
c.1495C>G (p.Arg499Gly)
c.1633C>G (p.Arg545Gly)
n.1231C>G
c.1639C>G (p.Arg547Gly)
c.377C>G
c.1567C>G (p.Arg523Gly)
n.1794C>G
c.1333C>G (p.Arg445Gly)
n.1605C>G
c.1570C>G (p.Arg524Gly)
15g.74181457G=CA2187550345STRA6c.1522C= (p.Arg508=)
c.1498C= (p.Arg500=)
c.1495C= (p.Arg499=)
c.1633C= (p.Arg545=)
n.1231C=
c.1639C= (p.Arg547=)
c.377C=
c.1567C= (p.Arg523=)
n.1794C=
c.1333C= (p.Arg445=)
n.1605C=
c.1570C= (p.Arg524=)
15g.74181457G>TCA491171580STRA6c.1522C>A (p.Arg508=)
c.1498C>A (p.Arg500=)
c.1495C>A (p.Arg499=)
c.1633C>A (p.Arg545=)
n.1231C>A
c.1639C>A (p.Arg547=)
c.377C>A
c.1567C>A (p.Arg523=)
n.1794C>A
c.1333C>A (p.Arg445=)
n.1605C>A
c.1570C>A (p.Arg524=)
15g.74181458C>ACA491171582STRA6c.1521G>T (p.Arg507=)
c.1497G>T (p.Arg499=)
c.1494G>T (p.Arg498=)
c.1632G>T (p.Arg544=)
n.1230G>T
c.1638G>T (p.Arg546=)
c.376G>T
c.1566G>T (p.Arg522=)
n.1793G>T
c.1332G>T (p.Arg444=)
n.1604G>T
c.1569G>T (p.Arg523=)
15g.74181458C>GCA491171584STRA6c.1521G>C (p.Arg507=)
c.1497G>C (p.Arg499=)
c.1494G>C (p.Arg498=)
c.1632G>C (p.Arg544=)
n.1230G>C
c.1638G>C (p.Arg546=)
c.376G>C
c.1566G>C (p.Arg522=)
n.1793G>C
c.1332G>C (p.Arg444=)
n.1604G>C
c.1569G>C (p.Arg523=)
15g.74181458C>TCA491171585STRA6c.1521G>A (p.Arg507=)
c.1497G>A (p.Arg499=)
c.1494G>A (p.Arg498=)
c.1632G>A (p.Arg544=)
n.1230G>A
c.1638G>A (p.Arg546=)
c.376G>A
c.1566G>A (p.Arg522=)
n.1793G>A
c.1332G>A (p.Arg444=)
n.1604G>A
c.1569G>A (p.Arg523=)
15g.74181459C>ACA393130325STRA6c.1521-1G>T (n.1521-1G>T)
c.1497-1G>T (n.1497-1G>T)
c.1494-1G>T (n.1494-1G>T)
c.1632-1G>T (n.1632-1G>T)
n.1230-1G>T
c.1638-1G>T (n.1638-1G>T)
c.376-1G>T
c.1566-1G>T (n.1566-1G>T)
n.1793-1G>T
c.1332-1G>T (n.1332-1G>T)
n.1604-1G>T
c.1569-1G>T (n.1569-1G>T)
15g.74181459C=CA2187550346STRA6c.1521-1G= (n.1521-1G=)
c.1497-1G= (n.1497-1G=)
c.1494-1G= (n.1494-1G=)
c.1632-1G= (n.1632-1G=)
n.1230-1G=
c.1638-1G= (n.1638-1G=)
c.376-1G=
c.1566-1G= (n.1566-1G=)
n.1793-1G=
c.1332-1G= (n.1332-1G=)
n.1604-1G=
c.1569-1G= (n.1569-1G=)
15g.74181459C>GCA393130321STRA6c.1521-1G>C (n.1521-1G>C)
c.1497-1G>C (n.1497-1G>C)
c.1494-1G>C (n.1494-1G>C)
c.1632-1G>C (n.1632-1G>C)
n.1230-1G>C
c.1638-1G>C (n.1638-1G>C)
c.376-1G>C
c.1566-1G>C (n.1566-1G>C)
n.1793-1G>C
c.1332-1G>C (n.1332-1G>C)
n.1604-1G>C
c.1569-1G>C (n.1569-1G>C)
15g.74181459C>TCA145347STRA6c.1521-1G>A (n.1521-1G>A)
c.1497-1G>A (n.1497-1G>A)
c.1494-1G>A (n.1494-1G>A)
c.1632-1G>A (n.1632-1G>A)
n.1230-1G>A
c.1638-1G>A (n.1638-1G>A)
c.376-1G>A
c.1566-1G>A (n.1566-1G>A)
n.1793-1G>A
c.1332-1G>A (n.1332-1G>A)
n.1604-1G>A
c.1569-1G>A (n.1569-1G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74181460T>ACA393130337STRA6c.1521-2A>T (n.1521-2A>T)
c.1497-2A>T (n.1497-2A>T)
c.1494-2A>T (n.1494-2A>T)
c.1632-2A>T (n.1632-2A>T)
n.1230-2A>T
c.1638-2A>T (n.1638-2A>T)
c.376-2A>T
c.1566-2A>T (n.1566-2A>T)
n.1793-2A>T
c.1332-2A>T (n.1332-2A>T)
n.1604-2A>T
c.1569-2A>T (n.1569-2A>T)
15g.74181460T>CCA393130342STRA6c.1521-2A>G (n.1521-2A>G)
c.1497-2A>G (n.1497-2A>G)
c.1494-2A>G (n.1494-2A>G)
c.1632-2A>G (n.1632-2A>G)
n.1230-2A>G
c.1638-2A>G (n.1638-2A>G)
c.376-2A>G
c.1566-2A>G (n.1566-2A>G)
n.1793-2A>G
c.1332-2A>G (n.1332-2A>G)
n.1604-2A>G
c.1569-2A>G (n.1569-2A>G)
gnomAD v4
15g.74181460T>GCA393130339STRA6c.1521-2A>C (n.1521-2A>C)
c.1497-2A>C (n.1497-2A>C)
c.1494-2A>C (n.1494-2A>C)
c.1632-2A>C (n.1632-2A>C)
n.1230-2A>C
c.1638-2A>C (n.1638-2A>C)
c.376-2A>C
c.1566-2A>C (n.1566-2A>C)
n.1793-2A>C
c.1332-2A>C (n.1332-2A>C)
n.1604-2A>C
c.1569-2A>C (n.1569-2A>C)

Number of alleles fetched