Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155290606_155290612delinsTAGCCGGCA2481224810PKLRc.1685_1691delinsCCGGCTA (p.Ser562=)
c.1592_1598delinsCCGGCTA (p.Ser531=)
c.1844_1850delinsCCGGCTA (p.Ser615=)
c.1493_1499delinsCCGGCTA (p.Ser498=)
1g.155290611_155290616delCA889655239PKLRc.1685_1690del (p.Ser562_Gly563del)
c.1592_1597del (p.Ser531_Gly532del)
c.1844_1849del (p.Ser615_Gly616del)
c.1493_1498del (p.Ser498_Gly499del)
 dbSNP gnomAD v3 gnomAD v4
1g.155290611G>ACA1143924PKLRc.1686C>T (p.Ser562=)
c.1593C>T (p.Ser531=)
c.1845C>T (p.Ser615=)
c.1494C>T (p.Ser498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290611G>CCA421019296PKLRc.1686C>G (p.Ser562=)
c.1593C>G (p.Ser531=)
c.1845C>G (p.Ser615=)
c.1494C>G (p.Ser498=)
1g.155290611G=CA1141768795PKLRc.1686C= (p.Ser562=)
c.1593C= (p.Ser531=)
c.1845C= (p.Ser615=)
c.1494C= (p.Ser498=)
1g.155290611G>TCA1143925PKLRc.1686C>A (p.Ser562=)
c.1593C>A (p.Ser531=)
c.1845C>A (p.Ser615=)
c.1494C>A (p.Ser498=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290612G>ACA342748256PKLRc.1685C>T (p.Ser562Phe)
c.1592C>T (p.Ser531Phe)
c.1844C>T (p.Ser615Phe)
c.1493C>T (p.Ser498Phe)
1g.155290612G>CCA342748259PKLRc.1685C>G (p.Ser562Cys)
c.1592C>G (p.Ser531Cys)
c.1844C>G (p.Ser615Cys)
c.1493C>G (p.Ser498Cys)
1g.155290612G>TCA342748260PKLRc.1685C>A (p.Ser562Tyr)
c.1592C>A (p.Ser531Tyr)
c.1844C>A (p.Ser615Tyr)
c.1493C>A (p.Ser498Tyr)
 gnomAD v4
1g.155290613A>CCA342748262PKLRc.1684T>G (p.Ser562Ala)
c.1591T>G (p.Ser531Ala)
c.1843T>G (p.Ser615Ala)
c.1492T>G (p.Ser498Ala)
1g.155290613A>GCA342748265PKLRc.1684T>C (p.Ser562Pro)
c.1591T>C (p.Ser531Pro)
c.1843T>C (p.Ser615Pro)
c.1492T>C (p.Ser498Pro)
1g.155290613A>TCA342748270PKLRc.1684T>A (p.Ser562Thr)
c.1591T>A (p.Ser531Thr)
c.1843T>A (p.Ser615Thr)
c.1492T>A (p.Ser498Thr)
1g.155290615_155290618delCA2510661402PKLRc.1681_1684del (p.Gly561ProfsTer10)
c.1588_1591del (p.Gly530ProfsTer10)
c.1840_1843del (p.Gly614ProfsTer10)
c.1489_1492del (p.Gly497ProfsTer10)
1g.155290613_155290621delinsAGCCAGGTCCA2481224813PKLRc.1676_1684delinsGACCTGGCT (p.Arg559=)
c.1583_1591delinsGACCTGGCT (p.Arg528=)
c.1835_1843delinsGACCTGGCT (p.Arg612=)
c.1484_1492delinsGACCTGGCT (p.Arg495=)
1g.155290614G>ACA421019305PKLRc.1683C>T (p.Gly561=)
c.1590C>T (p.Gly530=)
c.1842C>T (p.Gly614=)
c.1491C>T (p.Gly497=)
1g.155290614G>CCA421019307PKLRc.1683C>G (p.Gly561=)
c.1590C>G (p.Gly530=)
c.1842C>G (p.Gly614=)
c.1491C>G (p.Gly497=)
1g.155290614G>TCA421019309PKLRc.1683C>A (p.Gly561=)
c.1590C>A (p.Gly530=)
c.1842C>A (p.Gly614=)
c.1491C>A (p.Gly497=)
1g.155290619_155290626delCA1143926PKLRc.1676_1683del (p.Arg559LeufsTer?)
c.1583_1590del (p.Arg528LeufsTer?)
c.1835_1842del (p.Arg612LeufsTer?)
c.1484_1491del (p.Arg495LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290615C>ACA342748287PKLRc.1682G>T (p.Gly561Val)
c.1589G>T (p.Gly530Val)
c.1841G>T (p.Gly614Val)
c.1490G>T (p.Gly497Val)
1g.155290615C>GCA342748285PKLRc.1682G>C (p.Gly561Ala)
c.1589G>C (p.Gly530Ala)
c.1841G>C (p.Gly614Ala)
c.1490G>C (p.Gly497Ala)
1g.155290615C>TCA342748283PKLRc.1682G>A (p.Gly561Asp)
c.1589G>A (p.Gly530Asp)
c.1841G>A (p.Gly614Asp)
c.1490G>A (p.Gly497Asp)
1g.155290616C>ACA342748291PKLRc.1681G>T (p.Gly561Cys)
c.1588G>T (p.Gly530Cys)
c.1840G>T (p.Gly614Cys)
c.1489G>T (p.Gly497Cys)
1g.155290616C>GCA342748294PKLRc.1681G>C (p.Gly561Arg)
c.1588G>C (p.Gly530Arg)
c.1840G>C (p.Gly614Arg)
c.1489G>C (p.Gly497Arg)
1g.155290616C>TCA342748296PKLRc.1681G>A (p.Gly561Ser)
c.1588G>A (p.Gly530Ser)
c.1840G>A (p.Gly614Ser)
c.1489G>A (p.Gly497Ser)
1g.155290617A=CA2481224814PKLRc.1680T= (p.Pro560=)
c.1587T= (p.Pro529=)
c.1839T= (p.Pro613=)
c.1488T= (p.Pro496=)
1g.155290617A>CCA421019320PKLRc.1680T>G (p.Pro560=)
c.1587T>G (p.Pro529=)
c.1839T>G (p.Pro613=)
c.1488T>G (p.Pro496=)
1g.155290617A>GCA421019322PKLRc.1680T>C (p.Pro560=)
c.1587T>C (p.Pro529=)
c.1839T>C (p.Pro613=)
c.1488T>C (p.Pro496=)
 dbSNP
1g.155290617A>TCA421019324PKLRc.1680T>A (p.Pro560=)
c.1587T>A (p.Pro529=)
c.1839T>A (p.Pro613=)
c.1488T>A (p.Pro496=)
 gnomAD v3 gnomAD v4
1g.155290618G>ACA342748304PKLRc.1679C>T (p.Pro560Leu)
c.1586C>T (p.Pro529Leu)
c.1838C>T (p.Pro613Leu)
c.1487C>T (p.Pro496Leu)
1g.155290618G>CCA342748306PKLRc.1679C>G (p.Pro560Arg)
c.1586C>G (p.Pro529Arg)
c.1838C>G (p.Pro613Arg)
c.1487C>G (p.Pro496Arg)
1g.155290618G>TCA342748317PKLRc.1679C>A (p.Pro560His)
c.1586C>A (p.Pro529His)
c.1838C>A (p.Pro613His)
c.1487C>A (p.Pro496His)
1g.155290619G>ACA342748320PKLRc.1678C>T (p.Pro560Ser)
c.1585C>T (p.Pro529Ser)
c.1837C>T (p.Pro613Ser)
c.1486C>T (p.Pro496Ser)
1g.155290619G>CCA342748326PKLRc.1678C>G (p.Pro560Ala)
c.1585C>G (p.Pro529Ala)
c.1837C>G (p.Pro613Ala)
c.1486C>G (p.Pro496Ala)
1g.155290619G>TCA342748329PKLRc.1678C>A (p.Pro560Thr)
c.1585C>A (p.Pro529Thr)
c.1837C>A (p.Pro613Thr)
c.1486C>A (p.Pro496Thr)
 gnomAD v4
1g.155290620T>ACA421019331PKLRc.1677A>T (p.Arg559=)
c.1584A>T (p.Arg528=)
c.1836A>T (p.Arg612=)
c.1485A>T (p.Arg495=)
1g.155290620T>CCA421019334PKLRc.1677A>G (p.Arg559=)
c.1584A>G (p.Arg528=)
c.1836A>G (p.Arg612=)
c.1485A>G (p.Arg495=)
1g.155290620T>GCA421019336PKLRc.1677A>C (p.Arg559=)
c.1584A>C (p.Arg528=)
c.1836A>C (p.Arg612=)
c.1485A>C (p.Arg495=)
1g.155290621C>ACA342748333PKLRc.1676G>T (p.Arg559Leu)
c.1583G>T (p.Arg528Leu)
c.1835G>T (p.Arg612Leu)
c.1484G>T (p.Arg495Leu)
1g.155290621C=CA2481224815PKLRc.1676G= (p.Arg559=)
c.1583G= (p.Arg528=)
c.1835G= (p.Arg612=)
c.1484G= (p.Arg495=)
1g.155290621C>GCA342748335PKLRc.1676G>C (p.Arg559Pro)
c.1583G>C (p.Arg528Pro)
c.1835G>C (p.Arg612Pro)
c.1484G>C (p.Arg495Pro)
 ClinVar
1g.155290621C>TCA342748336PKLRc.1676G>A (p.Arg559Gln)
c.1583G>A (p.Arg528Gln)
c.1835G>A (p.Arg612Gln)
c.1484G>A (p.Arg495Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.155290622G>ACA1143927PKLRc.1675C>T (p.Arg559Ter)
c.1582C>T (p.Arg528Ter)
c.1834C>T (p.Arg612Ter)
c.1483C>T (p.Arg495Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290622G>CCA342748341PKLRc.1675C>G (p.Arg559Gly)
c.1582C>G (p.Arg528Gly)
c.1834C>G (p.Arg612Gly)
c.1483C>G (p.Arg495Gly)
 ClinVar
1g.155290622G=CA1144613757PKLRc.1675C= (p.Arg559=)
c.1582C= (p.Arg528=)
c.1834C= (p.Arg612=)
c.1483C= (p.Arg495=)
1g.155290622G>TCA421019345PKLRc.1675C>A (p.Arg559=)
c.1582C>A (p.Arg528=)
c.1834C>A (p.Arg612=)
c.1483C>A (p.Arg495=)
 gnomAD v4
1g.155290623C>ACA342748347PKLRc.1674G>T (p.Trp558Cys)
c.1581G>T (p.Trp527Cys)
c.1833G>T (p.Trp611Cys)
c.1482G>T (p.Trp494Cys)
1g.155290623C>GCA342748351PKLRc.1674G>C (p.Trp558Cys)
c.1581G>C (p.Trp527Cys)
c.1833G>C (p.Trp611Cys)
c.1482G>C (p.Trp494Cys)
1g.155290623C>TCA342748352PKLRc.1674G>A (p.Trp558Ter)
c.1581G>A (p.Trp527Ter)
c.1833G>A (p.Trp611Ter)
c.1482G>A (p.Trp494Ter)
1g.155290624C>ACA342748353PKLRc.1673G>T (p.Trp558Leu)
c.1580G>T (p.Trp527Leu)
c.1832G>T (p.Trp611Leu)
c.1481G>T (p.Trp494Leu)
1g.155290624C=CA1143762595PKLRc.1673G= (p.Trp558=)
c.1580G= (p.Trp527=)
c.1832G= (p.Trp611=)
c.1481G= (p.Trp494=)
1g.155290624C>GCA342748354PKLRc.1673G>C (p.Trp558Ser)
c.1580G>C (p.Trp527Ser)
c.1832G>C (p.Trp611Ser)
c.1481G>C (p.Trp494Ser)
1g.155290624C>TCA1143928PKLRc.1673G>A (p.Trp558Ter)
c.1580G>A (p.Trp527Ter)
c.1832G>A (p.Trp611Ter)
c.1481G>A (p.Trp494Ter)
 dbSNP ExAC gnomAD v2
1g.155290625A>CCA342748359PKLRc.1672T>G (p.Trp558Gly)
c.1579T>G (p.Trp527Gly)
c.1831T>G (p.Trp611Gly)
c.1480T>G (p.Trp494Gly)
1g.155290625A>GCA342748361PKLRc.1672T>C (p.Trp558Arg)
c.1579T>C (p.Trp527Arg)
c.1831T>C (p.Trp611Arg)
c.1480T>C (p.Trp494Arg)
1g.155290625A>TCA342748364PKLRc.1672T>A (p.Trp558Arg)
c.1579T>A (p.Trp527Arg)
c.1831T>A (p.Trp611Arg)
c.1480T>A (p.Trp494Arg)
1g.155290625_155290629delCA2525498094PKLRc.1668_1672del (p.Gly557AlafsTer?)
c.1575_1579del (p.Gly526AlafsTer?)
c.1827_1831del (p.Gly610AlafsTer?)
c.1476_1480del (p.Gly493AlafsTer?)
1g.155290626G>ACA421019361PKLRc.1671C>T (p.Gly557=)
c.1578C>T (p.Gly526=)
c.1830C>T (p.Gly610=)
c.1479C>T (p.Gly493=)
1g.155290626G>CCA421019363PKLRc.1671C>G (p.Gly557=)
c.1578C>G (p.Gly526=)
c.1830C>G (p.Gly610=)
c.1479C>G (p.Gly493=)
1g.155290626G=CA2481224816PKLRc.1671C= (p.Gly557=)
c.1578C= (p.Gly526=)
c.1830C= (p.Gly610=)
c.1479C= (p.Gly493=)
1g.155290626G>TCA421019365PKLRc.1671C>A (p.Gly557=)
c.1578C>A (p.Gly526=)
c.1830C>A (p.Gly610=)
c.1479C>A (p.Gly493=)
 dbSNP gnomAD v2
1g.155290627C>ACA342748370PKLRc.1670G>T (p.Gly557Val)
c.1577G>T (p.Gly526Val)
c.1829G>T (p.Gly610Val)
c.1478G>T (p.Gly493Val)
1g.155290627C=CA2481224817PKLRc.1670G= (p.Gly557=)
c.1577G= (p.Gly526=)
c.1829G= (p.Gly610=)
c.1478G= (p.Gly493=)
1g.155290627C>GCA342748374PKLRc.1670G>C (p.Gly557Ala)
c.1577G>C (p.Gly526Ala)
c.1829G>C (p.Gly610Ala)
c.1478G>C (p.Gly493Ala)
 ClinVar dbSNP gnomAD v4
1g.155290627C>TCA342748379PKLRc.1670G>A (p.Gly557Asp)
c.1577G>A (p.Gly526Asp)
c.1829G>A (p.Gly610Asp)
c.1478G>A (p.Gly493Asp)
 gnomAD v4
1g.155290628C>ACA342748384PKLRc.1669G>T (p.Gly557Cys)
c.1576G>T (p.Gly526Cys)
c.1828G>T (p.Gly610Cys)
c.1477G>T (p.Gly493Cys)
1g.155290628C=CA2481224818PKLRc.1669G= (p.Gly557=)
c.1576G= (p.Gly526=)
c.1828G= (p.Gly610=)
c.1477G= (p.Gly493=)
1g.155290628C>GCA342748387PKLRc.1669G>C (p.Gly557Arg)
c.1576G>C (p.Gly526Arg)
c.1828G>C (p.Gly610Arg)
c.1477G>C (p.Gly493Arg)
1g.155290628C>TCA342748381PKLRc.1669G>A (p.Gly557Ser)
c.1576G>A (p.Gly526Ser)
c.1828G>A (p.Gly610Ser)
c.1477G>A (p.Gly493Ser)
 dbSNP
1g.155290629T>ACA421019375PKLRc.1668A>T (p.Thr556=)
c.1575A>T (p.Thr525=)
c.1827A>T (p.Thr609=)
c.1476A>T (p.Thr492=)
1g.155290629T>CCA421019377PKLRc.1668A>G (p.Thr556=)
c.1575A>G (p.Thr525=)
c.1827A>G (p.Thr609=)
c.1476A>G (p.Thr492=)
1g.155290629T>GCA421019380PKLRc.1668A>C (p.Thr556=)
c.1575A>C (p.Thr525=)
c.1827A>C (p.Thr609=)
c.1476A>C (p.Thr492=)
1g.155290630G>ACA342748401PKLRc.1667C>T (p.Thr556Ile)
c.1574C>T (p.Thr525Ile)
c.1826C>T (p.Thr609Ile)
c.1475C>T (p.Thr492Ile)
1g.155290630G>CCA342748389PKLRc.1667C>G (p.Thr556Arg)
c.1574C>G (p.Thr525Arg)
c.1826C>G (p.Thr609Arg)
c.1475C>G (p.Thr492Arg)
1g.155290630G>TCA342748399PKLRc.1667C>A (p.Thr556Lys)
c.1574C>A (p.Thr525Lys)
c.1826C>A (p.Thr609Lys)
c.1475C>A (p.Thr492Lys)
1g.155290631T>ACA342748405PKLRc.1666A>T (p.Thr556Ser)
c.1573A>T (p.Thr525Ser)
c.1825A>T (p.Thr609Ser)
c.1474A>T (p.Thr492Ser)
1g.155290631T>CCA342748408PKLRc.1666A>G (p.Thr556Ala)
c.1573A>G (p.Thr525Ala)
c.1825A>G (p.Thr609Ala)
c.1474A>G (p.Thr492Ala)
1g.155290631T>GCA342748410PKLRc.1666A>C (p.Thr556Pro)
c.1573A>C (p.Thr525Pro)
c.1825A>C (p.Thr609Pro)
c.1474A>C (p.Thr492Pro)
1g.155290632C>ACA421019390PKLRc.1665G>T (p.Val555=)
c.1572G>T (p.Val524=)
c.1824G>T (p.Val608=)
c.1473G>T (p.Val491=)
1g.155290632C>GCA421019391PKLRc.1665G>C (p.Val555=)
c.1572G>C (p.Val524=)
c.1824G>C (p.Val608=)
c.1473G>C (p.Val491=)
1g.155290632C>TCA421019393PKLRc.1665G>A (p.Val555=)
c.1572G>A (p.Val524=)
c.1824G>A (p.Val608=)
c.1473G>A (p.Val491=)
1g.155290633A>CCA342748425PKLRc.1664T>G (p.Val555Gly)
c.1571T>G (p.Val524Gly)
c.1823T>G (p.Val608Gly)
c.1472T>G (p.Val491Gly)
1g.155290633A>GCA342748424PKLRc.1664T>C (p.Val555Ala)
c.1571T>C (p.Val524Ala)
c.1823T>C (p.Val608Ala)
c.1472T>C (p.Val491Ala)
 gnomAD v4
1g.155290633A>TCA342748414PKLRc.1664T>A (p.Val555Glu)
c.1571T>A (p.Val524Glu)
c.1823T>A (p.Val608Glu)
c.1472T>A (p.Val491Glu)
1g.155290634C>ACA1143929PKLRc.1663G>T (p.Val555Leu)
c.1570G>T (p.Val524Leu)
c.1822G>T (p.Val608Leu)
c.1471G>T (p.Val491Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290634C=CA2481224819PKLRc.1663G= (p.Val555=)
c.1570G= (p.Val524=)
c.1822G= (p.Val608=)
c.1471G= (p.Val491=)
1g.155290634C>GCA342748427PKLRc.1663G>C (p.Val555Leu)
c.1570G>C (p.Val524Leu)
c.1822G>C (p.Val608Leu)
c.1471G>C (p.Val491Leu)
1g.155290634C>TCA342748428PKLRc.1663G>A (p.Val555Met)
c.1570G>A (p.Val524Met)
c.1822G>A (p.Val608Met)
c.1471G>A (p.Val491Met)
1g.155290635C>ACA421019408PKLRc.1662G>T (p.Val554=)
c.1569G>T (p.Val523=)
c.1821G>T (p.Val607=)
c.1470G>T (p.Val490=)
1g.155290635C>GCA421019406PKLRc.1662G>C (p.Val554=)
c.1569G>C (p.Val523=)
c.1821G>C (p.Val607=)
c.1470G>C (p.Val490=)
1g.155290635C>TCA421019405PKLRc.1662G>A (p.Val554=)
c.1569G>A (p.Val523=)
c.1821G>A (p.Val607=)
c.1470G>A (p.Val490=)
 gnomAD v4
1g.155290636A=CA2481224820PKLRc.1661T= (p.Val554=)
c.1568T= (p.Val523=)
c.1820T= (p.Val607=)
c.1469T= (p.Val490=)
1g.155290636A>CCA342748434PKLRc.1661T>G (p.Val554Gly)
c.1568T>G (p.Val523Gly)
c.1820T>G (p.Val607Gly)
c.1469T>G (p.Val490Gly)
1g.155290636A>GCA342748437PKLRc.1661T>C (p.Val554Ala)
c.1568T>C (p.Val523Ala)
c.1820T>C (p.Val607Ala)
c.1469T>C (p.Val490Ala)
 dbSNP gnomAD v4
1g.155290636A>TCA342748439PKLRc.1661T>A (p.Val554Glu)
c.1568T>A (p.Val523Glu)
c.1820T>A (p.Val607Glu)
c.1469T>A (p.Val490Glu)
1g.155290637C>ACA342748444PKLRc.1660G>T (p.Val554Leu)
c.1567G>T (p.Val523Leu)
c.1819G>T (p.Val607Leu)
c.1468G>T (p.Val490Leu)
1g.155290637C>GCA342748451PKLRc.1660G>C (p.Val554Leu)
c.1567G>C (p.Val523Leu)
c.1819G>C (p.Val607Leu)
c.1468G>C (p.Val490Leu)
1g.155290637C>TCA342748447PKLRc.1660G>A (p.Val554Met)
c.1567G>A (p.Val523Met)
c.1819G>A (p.Val607Met)
c.1468G>A (p.Val490Met)
1g.155290638A>CCA342748456PKLRc.1659T>G (p.Ile553Met)
c.1566T>G (p.Ile522Met)
c.1818T>G (p.Ile606Met)
c.1467T>G (p.Ile489Met)
1g.155290638A>GCA421019423PKLRc.1659T>C (p.Ile553=)
c.1566T>C (p.Ile522=)
c.1818T>C (p.Ile606=)
c.1467T>C (p.Ile489=)
1g.155290638A>TCA421019426PKLRc.1659T>A (p.Ile553=)
c.1566T>A (p.Ile522=)
c.1818T>A (p.Ile606=)
c.1467T>A (p.Ile489=)
1g.155290639A>CCA342748458PKLRc.1658T>G (p.Ile553Ser)
c.1565T>G (p.Ile522Ser)
c.1817T>G (p.Ile606Ser)
c.1466T>G (p.Ile489Ser)
1g.155290639A>GCA342748460PKLRc.1658T>C (p.Ile553Thr)
c.1565T>C (p.Ile522Thr)
c.1817T>C (p.Ile606Thr)
c.1466T>C (p.Ile489Thr)
1g.155290639A>TCA342748465PKLRc.1658T>A (p.Ile553Asn)
c.1565T>A (p.Ile522Asn)
c.1817T>A (p.Ile606Asn)
c.1466T>A (p.Ile489Asn)
1g.155290640T>ACA342748471PKLRc.1657A>T (p.Ile553Phe)
c.1564A>T (p.Ile522Phe)
c.1816A>T (p.Ile606Phe)
c.1465A>T (p.Ile489Phe)
1g.155290640T>CCA342748473PKLRc.1657A>G (p.Ile553Val)
c.1564A>G (p.Ile522Val)
c.1816A>G (p.Ile606Val)
c.1465A>G (p.Ile489Val)
1g.155290640T>GCA342748476PKLRc.1657A>C (p.Ile553Leu)
c.1564A>C (p.Ile522Leu)
c.1816A>C (p.Ile606Leu)
c.1465A>C (p.Ile489Leu)
1g.155290641C>ACA421019433PKLRc.1656G>T (p.Val552=)
c.1563G>T (p.Val521=)
c.1815G>T (p.Val605=)
c.1464G>T (p.Val488=)
1g.155290641C>GCA421019434PKLRc.1656G>C (p.Val552=)
c.1563G>C (p.Val521=)
c.1815G>C (p.Val605=)
c.1464G>C (p.Val488=)
1g.155290641C>TCA421019435PKLRc.1656G>A (p.Val552=)
c.1563G>A (p.Val521=)
c.1815G>A (p.Val605=)
c.1464G>A (p.Val488=)
1g.155290642A=CA2481224821PKLRc.1655T= (p.Val552=)
c.1562T= (p.Val521=)
c.1814T= (p.Val605=)
c.1463T= (p.Val488=)
1g.155290642A>CCA342748479PKLRc.1655T>G (p.Val552Gly)
c.1562T>G (p.Val521Gly)
c.1814T>G (p.Val605Gly)
c.1463T>G (p.Val488Gly)
1g.155290642A>GCA1143930PKLRc.1655T>C (p.Val552Ala)
c.1562T>C (p.Val521Ala)
c.1814T>C (p.Val605Ala)
c.1463T>C (p.Val488Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290642A>TCA342748483PKLRc.1655T>A (p.Val552Glu)
c.1562T>A (p.Val521Glu)
c.1814T>A (p.Val605Glu)
c.1463T>A (p.Val488Glu)
1g.155290643C>ACA342748492PKLRc.1654G>T (p.Val552Leu)
c.1561G>T (p.Val521Leu)
c.1813G>T (p.Val605Leu)
c.1462G>T (p.Val488Leu)
1g.155290643C=CA1143722280PKLRc.1654G= (p.Val552=)
c.1561G= (p.Val521=)
c.1813G= (p.Val605=)
c.1462G= (p.Val488=)
1g.155290643C>GCA342748489PKLRc.1654G>C (p.Val552Leu)
c.1561G>C (p.Val521Leu)
c.1813G>C (p.Val605Leu)
c.1462G>C (p.Val488Leu)
1g.155290643C>TCA30899381PKLRc.1654G>A (p.Val552Met)
c.1561G>A (p.Val521Met)
c.1813G>A (p.Val605Met)
c.1462G>A (p.Val488Met)
 ClinVar dbSNP gnomAD v4
1g.155290644C>ACA421019444PKLRc.1653G>T (p.Leu551=)
c.1560G>T (p.Leu520=)
c.1812G>T (p.Leu604=)
c.1461G>T (p.Leu487=)
1g.155290644C>GCA421019446PKLRc.1653G>C (p.Leu551=)
c.1560G>C (p.Leu520=)
c.1812G>C (p.Leu604=)
c.1461G>C (p.Leu487=)
 gnomAD v4
1g.155290644C>TCA421019447PKLRc.1653G>A (p.Leu551=)
c.1560G>A (p.Leu520=)
c.1812G>A (p.Leu604=)
c.1461G>A (p.Leu487=)
1g.155290645A=CA2481224822PKLRc.1652T= (p.Leu551=)
c.1559T= (p.Leu520=)
c.1811T= (p.Leu604=)
c.1460T= (p.Leu487=)
1g.155290645A>CCA342748496PKLRc.1652T>G (p.Leu551Arg)
c.1559T>G (p.Leu520Arg)
c.1811T>G (p.Leu604Arg)
c.1460T>G (p.Leu487Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155290645A>GCA342748499PKLRc.1652T>C (p.Leu551Pro)
c.1559T>C (p.Leu520Pro)
c.1811T>C (p.Leu604Pro)
c.1460T>C (p.Leu487Pro)
1g.155290645A>TCA342748501PKLRc.1652T>A (p.Leu551Gln)
c.1559T>A (p.Leu520Gln)
c.1811T>A (p.Leu604Gln)
c.1460T>A (p.Leu487Gln)
1g.155290646G>ACA421019452PKLRc.1651C>T (p.Leu551=)
c.1558C>T (p.Leu520=)
c.1810C>T (p.Leu604=)
c.1459C>T (p.Leu487=)
1g.155290646G>CCA342748505PKLRc.1651C>G (p.Leu551Val)
c.1558C>G (p.Leu520Val)
c.1810C>G (p.Leu604Val)
c.1459C>G (p.Leu487Val)
1g.155290646G>TCA342748508PKLRc.1651C>A (p.Leu551Met)
c.1558C>A (p.Leu520Met)
c.1810C>A (p.Leu604Met)
c.1459C>A (p.Leu487Met)
1g.155290647G>ACA421019454PKLRc.1650C>T (p.Asp550=)
c.1557C>T (p.Asp519=)
c.1809C>T (p.Asp603=)
c.1458C>T (p.Asp486=)
 gnomAD v4
1g.155290647G>CCA342748513PKLRc.1650C>G (p.Asp550Glu)
c.1557C>G (p.Asp519Glu)
c.1809C>G (p.Asp603Glu)
c.1458C>G (p.Asp486Glu)
1g.155290647G>TCA342748516PKLRc.1650C>A (p.Asp550Glu)
c.1557C>A (p.Asp519Glu)
c.1809C>A (p.Asp603Glu)
c.1458C>A (p.Asp486Glu)
1g.155290648T>ACA342748518PKLRc.1649A>T (p.Asp550Val)
c.1556A>T (p.Asp519Val)
c.1808A>T (p.Asp603Val)
c.1457A>T (p.Asp486Val)
1g.155290648T>CCA342748522PKLRc.1649A>G (p.Asp550Gly)
c.1556A>G (p.Asp519Gly)
c.1808A>G (p.Asp603Gly)
c.1457A>G (p.Asp486Gly)
1g.155290648T>GCA342748527PKLRc.1649A>C (p.Asp550Ala)
c.1556A>C (p.Asp519Ala)
c.1808A>C (p.Asp603Ala)
c.1457A>C (p.Asp486Ala)
1g.155290649C>ACA342748532PKLRc.1648G>T (p.Asp550Tyr)
c.1555G>T (p.Asp519Tyr)
c.1807G>T (p.Asp603Tyr)
c.1456G>T (p.Asp486Tyr)
1g.155290649C>GCA342748535PKLRc.1648G>C (p.Asp550His)
c.1555G>C (p.Asp519His)
c.1807G>C (p.Asp603His)
c.1456G>C (p.Asp486His)
1g.155290649C>TCA342748542PKLRc.1648G>A (p.Asp550Asn)
c.1555G>A (p.Asp519Asn)
c.1807G>A (p.Asp603Asn)
c.1456G>A (p.Asp486Asn)
1g.155290650T>ACA421019469PKLRc.1647A>T (p.Gly549=)
c.1554A>T (p.Gly518=)
c.1806A>T (p.Gly602=)
c.1455A>T (p.Gly485=)
1g.155290650T>CCA421019471PKLRc.1647A>G (p.Gly549=)
c.1554A>G (p.Gly518=)
c.1806A>G (p.Gly602=)
c.1455A>G (p.Gly485=)
1g.155290650T>GCA421019473PKLRc.1647A>C (p.Gly549=)
c.1554A>C (p.Gly518=)
c.1806A>C (p.Gly602=)
c.1455A>C (p.Gly485=)
1g.155290651C>ACA342748550PKLRc.1646G>T (p.Gly549Val)
c.1553G>T (p.Gly518Val)
c.1805G>T (p.Gly602Val)
c.1454G>T (p.Gly485Val)
1g.155290651C=CA2481224823PKLRc.1646G= (p.Gly549=)
c.1553G= (p.Gly518=)
c.1805G= (p.Gly602=)
c.1454G= (p.Gly485=)
1g.155290651C>GCA342748545PKLRc.1646G>C (p.Gly549Ala)
c.1553G>C (p.Gly518Ala)
c.1805G>C (p.Gly602Ala)
c.1454G>C (p.Gly485Ala)
1g.155290651C>TCA342748548PKLRc.1646G>A (p.Gly549Glu)
c.1553G>A (p.Gly518Glu)
c.1805G>A (p.Gly602Glu)
c.1454G>A (p.Gly485Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.155290652C>ACA342748552PKLRc.1645G>T (p.Gly549Ter)
c.1552G>T (p.Gly518Ter)
c.1804G>T (p.Gly602Ter)
c.1453G>T (p.Gly485Ter)
1g.155290652C=CA1143182628PKLRc.1645G= (p.Gly549=)
c.1552G= (p.Gly518=)
c.1804G= (p.Gly602=)
c.1453G= (p.Gly485=)
1g.155290652C>GCA342748559PKLRc.1645G>C (p.Gly549Arg)
c.1552G>C (p.Gly518Arg)
c.1804G>C (p.Gly602Arg)
c.1453G>C (p.Gly485Arg)
1g.155290652C>TCA1143931PKLRc.1645G>A (p.Gly549Arg)
c.1552G>A (p.Gly518Arg)
c.1804G>A (p.Gly602Arg)
c.1453G>A (p.Gly485Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290653A>CCA421019484PKLRc.1644T>G (p.Val548=)
c.1551T>G (p.Val517=)
c.1803T>G (p.Val601=)
c.1452T>G (p.Val484=)
 gnomAD v4
1g.155290653A>GCA421019486PKLRc.1644T>C (p.Val548=)
c.1551T>C (p.Val517=)
c.1803T>C (p.Val601=)
c.1452T>C (p.Val484=)
1g.155290653A>TCA421019488PKLRc.1644T>A (p.Val548=)
c.1551T>A (p.Val517=)
c.1803T>A (p.Val601=)
c.1452T>A (p.Val484=)
1g.155290654A>CCA342748561PKLRc.1643T>G (p.Val548Gly)
c.1550T>G (p.Val517Gly)
c.1802T>G (p.Val601Gly)
c.1451T>G (p.Val484Gly)
1g.155290654A>GCA342748563PKLRc.1643T>C (p.Val548Ala)
c.1550T>C (p.Val517Ala)
c.1802T>C (p.Val601Ala)
c.1451T>C (p.Val484Ala)
 gnomAD v4
1g.155290654A>TCA342748566PKLRc.1643T>A (p.Val548Asp)
c.1550T>A (p.Val517Asp)
c.1802T>A (p.Val601Asp)
c.1451T>A (p.Val484Asp)
 gnomAD v4
1g.155290655C>ACA342748569PKLRc.1642G>T (p.Val548Phe)
c.1549G>T (p.Val517Phe)
c.1801G>T (p.Val601Phe)
c.1450G>T (p.Val484Phe)
1g.155290655C>GCA342748570PKLRc.1642G>C (p.Val548Leu)
c.1549G>C (p.Val517Leu)
c.1801G>C (p.Val601Leu)
c.1450G>C (p.Val484Leu)
1g.155290655C>TCA342748571PKLRc.1642G>A (p.Val548Ile)
c.1549G>A (p.Val517Ile)
c.1801G>A (p.Val601Ile)
c.1450G>A (p.Val484Ile)
1g.155290655_155290656insTCA2586967467PKLRc.1641_1642insA (p.Val548SerfsTer?)
c.1548_1549insA (p.Val517SerfsTer?)
c.1800_1801insA (p.Val601SerfsTer?)
c.1449_1450insA (p.Val484SerfsTer?)
1g.155290656A>CCA421019498PKLRc.1641T>G (p.Arg547=)
c.1548T>G (p.Arg516=)
c.1800T>G (p.Arg600=)
c.1449T>G (p.Arg483=)
1g.155290656A>GCA421019499PKLRc.1641T>C (p.Arg547=)
c.1548T>C (p.Arg516=)
c.1800T>C (p.Arg600=)
c.1449T>C (p.Arg483=)
1g.155290656A>TCA421019496PKLRc.1641T>A (p.Arg547=)
c.1548T>A (p.Arg516=)
c.1800T>A (p.Arg600=)
c.1449T>A (p.Arg483=)
1g.155290657C>ACA342748572PKLRc.1640G>T (p.Arg547Leu)
c.1547G>T (p.Arg516Leu)
c.1799G>T (p.Arg600Leu)
c.1448G>T (p.Arg483Leu)
1g.155290657C=CA1144066080PKLRc.1640G= (p.Arg547=)
c.1547G= (p.Arg516=)
c.1799G= (p.Arg600=)
c.1448G= (p.Arg483=)
1g.155290657C>GCA342748573PKLRc.1640G>C (p.Arg547Pro)
c.1547G>C (p.Arg516Pro)
c.1799G>C (p.Arg600Pro)
c.1448G>C (p.Arg483Pro)
 ClinVar
1g.155290657C>TCA1143932PKLRc.1640G>A (p.Arg547His)
c.1547G>A (p.Arg516His)
c.1799G>A (p.Arg600His)
c.1448G>A (p.Arg483His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290658G>ACA1143933PKLRc.1639C>T (p.Arg547Cys)
c.1546C>T (p.Arg516Cys)
c.1798C>T (p.Arg600Cys)
c.1447C>T (p.Arg483Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290658G>CCA342748584PKLRc.1639C>G (p.Arg547Gly)
c.1546C>G (p.Arg516Gly)
c.1798C>G (p.Arg600Gly)
c.1447C>G (p.Arg483Gly)
1g.155290658G=CA2481224824PKLRc.1639C= (p.Arg547=)
c.1546C= (p.Arg516=)
c.1798C= (p.Arg600=)
c.1447C= (p.Arg483=)
1g.155290658G>TCA342748580PKLRc.1639C>A (p.Arg547Ser)
c.1546C>A (p.Arg516Ser)
c.1798C>A (p.Arg600Ser)
c.1447C>A (p.Arg483Ser)
 gnomAD v4
1g.155290659G>ACA421019515PKLRc.1638C>T (p.Leu546=)
c.1545C>T (p.Leu515=)
c.1797C>T (p.Leu599=)
c.1446C>T (p.Leu482=)
1g.155290659G>CCA421019511PKLRc.1638C>G (p.Leu546=)
c.1545C>G (p.Leu515=)
c.1797C>G (p.Leu599=)
c.1446C>G (p.Leu482=)
1g.155290659G>TCA421019513PKLRc.1638C>A (p.Leu546=)
c.1545C>A (p.Leu515=)
c.1797C>A (p.Leu599=)
c.1446C>A (p.Leu482=)
1g.155290660A>CCA342748585PKLRc.1637T>G (p.Leu546Arg)
c.1544T>G (p.Leu515Arg)
c.1796T>G (p.Leu599Arg)
c.1445T>G (p.Leu482Arg)
1g.155290660A>GCA342748588PKLRc.1637T>C (p.Leu546Pro)
c.1544T>C (p.Leu515Pro)
c.1796T>C (p.Leu599Pro)
c.1445T>C (p.Leu482Pro)
1g.155290660A>TCA342748586PKLRc.1637T>A (p.Leu546His)
c.1544T>A (p.Leu515His)
c.1796T>A (p.Leu599His)
c.1445T>A (p.Leu482His)
 gnomAD v4
1g.155290661G>ACA342748590PKLRc.1636C>T (p.Leu546Phe)
c.1543C>T (p.Leu515Phe)
c.1795C>T (p.Leu599Phe)
c.1444C>T (p.Leu482Phe)
 gnomAD v4
1g.155290661G>CCA342748596PKLRc.1636C>G (p.Leu546Val)
c.1543C>G (p.Leu515Val)
c.1795C>G (p.Leu599Val)
c.1444C>G (p.Leu482Val)
1g.155290661G>TCA342748593PKLRc.1636C>A (p.Leu546Ile)
c.1543C>A (p.Leu515Ile)
c.1795C>A (p.Leu599Ile)
c.1444C>A (p.Leu482Ile)
1g.155290662G>ACA421019528PKLRc.1635C>T (p.Phe545=)
c.1542C>T (p.Phe514=)
c.1794C>T (p.Phe598=)
c.1443C>T (p.Phe481=)
1g.155290662G>CCA342748602PKLRc.1635C>G (p.Phe545Leu)
c.1542C>G (p.Phe514Leu)
c.1794C>G (p.Phe598Leu)
c.1443C>G (p.Phe481Leu)
1g.155290662G>TCA342748605PKLRc.1635C>A (p.Phe545Leu)
c.1542C>A (p.Phe514Leu)
c.1794C>A (p.Phe598Leu)
c.1443C>A (p.Phe481Leu)
1g.155290663A>CCA342748616PKLRc.1634T>G (p.Phe545Cys)
c.1541T>G (p.Phe514Cys)
c.1793T>G (p.Phe598Cys)
c.1442T>G (p.Phe481Cys)
1g.155290663A>GCA342748617PKLRc.1634T>C (p.Phe545Ser)
c.1541T>C (p.Phe514Ser)
c.1793T>C (p.Phe598Ser)
c.1442T>C (p.Phe481Ser)
1g.155290663A>TCA342748618PKLRc.1634T>A (p.Phe545Tyr)
c.1541T>A (p.Phe514Tyr)
c.1793T>A (p.Phe598Tyr)
c.1442T>A (p.Phe481Tyr)
1g.155290664A=CA2481224825PKLRc.1633T= (p.Phe545=)
c.1540T= (p.Phe514=)
c.1792T= (p.Phe598=)
c.1441T= (p.Phe481=)
1g.155290664A>CCA342748620PKLRc.1633T>G (p.Phe545Val)
c.1540T>G (p.Phe514Val)
c.1792T>G (p.Phe598Val)
c.1441T>G (p.Phe481Val)
1g.155290664A>GCA342748623PKLRc.1633T>C (p.Phe545Leu)
c.1540T>C (p.Phe514Leu)
c.1792T>C (p.Phe598Leu)
c.1441T>C (p.Phe481Leu)
1g.155290664A>TCA342748626PKLRc.1633T>A (p.Phe545Ile)
c.1540T>A (p.Phe514Ile)
c.1792T>A (p.Phe598Ile)
c.1441T>A (p.Phe481Ile)
1g.155290665G>ACA421019551PKLRc.1632C>T (p.Gly544=)
c.1539C>T (p.Gly513=)
c.1791C>T (p.Gly597=)
c.1440C>T (p.Gly480=)
1g.155290665G>CCA421019553PKLRc.1632C>G (p.Gly544=)
c.1539C>G (p.Gly513=)
c.1791C>G (p.Gly597=)
c.1440C>G (p.Gly480=)
1g.155290665G>TCA421019555PKLRc.1632C>A (p.Gly544=)
c.1539C>A (p.Gly513=)
c.1791C>A (p.Gly597=)
c.1440C>A (p.Gly480=)
 gnomAD v4
1g.155290665_155290667dupCA2481224826PKLRc.1630_1632dup (p.Gly544_Phe545insGly)
c.1537_1539dup (p.Gly513_Phe514insGly)
c.1789_1791dup (p.Gly597_Phe598insGly)
c.1438_1440dup (p.Gly480_Phe481insGly)
 dbSNP
1g.155290666C>ACA1143934PKLRc.1631G>T (p.Gly544Val)
c.1538G>T (p.Gly513Val)
c.1790G>T (p.Gly597Val)
c.1439G>T (p.Gly480Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290666C=CA2481224827PKLRc.1631G= (p.Gly544=)
c.1538G= (p.Gly513=)
c.1790G= (p.Gly597=)
c.1439G= (p.Gly480=)
1g.155290666C>GCA342748631PKLRc.1631G>C (p.Gly544Ala)
c.1538G>C (p.Gly513Ala)
c.1790G>C (p.Gly597Ala)
c.1439G>C (p.Gly480Ala)
1g.155290666C>TCA342748634PKLRc.1631G>A (p.Gly544Asp)
c.1538G>A (p.Gly513Asp)
c.1790G>A (p.Gly597Asp)
c.1439G>A (p.Gly480Asp)
1g.155290667C>ACA342748637PKLRc.1630G>T (p.Gly544Cys)
c.1537G>T (p.Gly513Cys)
c.1789G>T (p.Gly597Cys)
c.1438G>T (p.Gly480Cys)
1g.155290667C>GCA342748635PKLRc.1630G>C (p.Gly544Arg)
c.1537G>C (p.Gly513Arg)
c.1789G>C (p.Gly597Arg)
c.1438G>C (p.Gly480Arg)
1g.155290667C>TCA342748636PKLRc.1630G>A (p.Gly544Ser)
c.1537G>A (p.Gly513Ser)
c.1789G>A (p.Gly597Ser)
c.1438G>A (p.Gly480Ser)
1g.155290668_155290669delCA2573915949PKLRc.1629_1630del (p.Gly544LeufsTer?)
c.1536_1537del (p.Gly513LeufsTer?)
c.1788_1789del (p.Gly597LeufsTer?)
c.1437_1438del (p.Gly480LeufsTer?)
1g.155290668A=CA2481224828PKLRc.1629T= (p.Arg543=)
c.1536T= (p.Arg512=)
c.1788T= (p.Arg596=)
c.1437T= (p.Arg479=)
1g.155290668A>CCA421019564PKLRc.1629T>G (p.Arg543=)
c.1536T>G (p.Arg512=)
c.1788T>G (p.Arg596=)
c.1437T>G (p.Arg479=)
1g.155290668A>GCA1143935PKLRc.1629T>C (p.Arg543=)
c.1536T>C (p.Arg512=)
c.1788T>C (p.Arg596=)
c.1437T>C (p.Arg479=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290668A>TCA421019567PKLRc.1629T>A (p.Arg543=)
c.1536T>A (p.Arg512=)
c.1788T>A (p.Arg596=)
c.1437T>A (p.Arg479=)
 dbSNP gnomAD v2 gnomAD v4
1g.155290669C>ACA342748645PKLRc.1628G>T (p.Arg543Leu)
c.1535G>T (p.Arg512Leu)
c.1787G>T (p.Arg596Leu)
c.1436G>T (p.Arg479Leu)
1g.155290669C=CA2481224829PKLRc.1628G= (p.Arg543=)
c.1535G= (p.Arg512=)
c.1787G= (p.Arg596=)
c.1436G= (p.Arg479=)
1g.155290669C>GCA342748647PKLRc.1628G>C (p.Arg543Pro)
c.1535G>C (p.Arg512Pro)
c.1787G>C (p.Arg596Pro)
c.1436G>C (p.Arg479Pro)
1g.155290669C>TCA1143936PKLRc.1628G>A (p.Arg543His)
c.1535G>A (p.Arg512His)
c.1787G>A (p.Arg596His)
c.1436G>A (p.Arg479His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290670G>ACA30899443PKLRc.1627C>T (p.Arg543Cys)
c.1534C>T (p.Arg512Cys)
c.1786C>T (p.Arg596Cys)
c.1435C>T (p.Arg479Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155290670G>CCA342748653PKLRc.1627C>G (p.Arg543Gly)
c.1534C>G (p.Arg512Gly)
c.1786C>G (p.Arg596Gly)
c.1435C>G (p.Arg479Gly)
1g.155290670G=CA2481224830PKLRc.1627C= (p.Arg543=)
c.1534C= (p.Arg512=)
c.1786C= (p.Arg596=)
c.1435C= (p.Arg479=)
1g.155290670G>TCA342748656PKLRc.1627C>A (p.Arg543Ser)
c.1534C>A (p.Arg512Ser)
c.1786C>A (p.Arg596Ser)
c.1435C>A (p.Arg479Ser)
 gnomAD v4
1g.155290671G>ACA421019579PKLRc.1626C>T (p.Leu542=)
c.1533C>T (p.Leu511=)
c.1785C>T (p.Leu595=)
c.1434C>T (p.Leu478=)
 gnomAD v4
1g.155290671G>CCA421019580PKLRc.1626C>G (p.Leu542=)
c.1533C>G (p.Leu511=)
c.1785C>G (p.Leu595=)
c.1434C>G (p.Leu478=)
1g.155290671G>TCA421019583PKLRc.1626C>A (p.Leu542=)
c.1533C>A (p.Leu511=)
c.1785C>A (p.Leu595=)
c.1434C>A (p.Leu478=)
1g.155290672A>CCA342748657PKLRc.1625T>G (p.Leu542Arg)
c.1532T>G (p.Leu511Arg)
c.1784T>G (p.Leu595Arg)
c.1433T>G (p.Leu478Arg)
1g.155290672A>GCA342748658PKLRc.1625T>C (p.Leu542Pro)
c.1532T>C (p.Leu511Pro)
c.1784T>C (p.Leu595Pro)
c.1433T>C (p.Leu478Pro)
 gnomAD v4
1g.155290672A>TCA342748659PKLRc.1625T>A (p.Leu542His)
c.1532T>A (p.Leu511His)
c.1784T>A (p.Leu595His)
c.1433T>A (p.Leu478His)
1g.155290673G>ACA342748662PKLRc.1624C>T (p.Leu542Phe)
c.1531C>T (p.Leu511Phe)
c.1783C>T (p.Leu595Phe)
c.1432C>T (p.Leu478Phe)
 dbSNP gnomAD v4
1g.155290673G>CCA342748665PKLRc.1624C>G (p.Leu542Val)
c.1531C>G (p.Leu511Val)
c.1783C>G (p.Leu595Val)
c.1432C>G (p.Leu478Val)
1g.155290673G=CA2481224831PKLRc.1624C= (p.Leu542=)
c.1531C= (p.Leu511=)
c.1783C= (p.Leu595=)
c.1432C= (p.Leu478=)
1g.155290673G>TCA342748661PKLRc.1624C>A (p.Leu542Ile)
c.1531C>A (p.Leu511Ile)
c.1783C>A (p.Leu595Ile)
c.1432C>A (p.Leu478Ile)
 gnomAD v4
1g.155290674C>ACA342748666PKLRc.1623G>T (p.Lys541Asn)
c.1530G>T (p.Lys510Asn)
c.1782G>T (p.Lys594Asn)
c.1431G>T (p.Lys477Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.155290674C=CA2481224832PKLRc.1623G= (p.Lys541=)
c.1530G= (p.Lys510=)
c.1782G= (p.Lys594=)
c.1431G= (p.Lys477=)
1g.155290674C>GCA342748668PKLRc.1623G>C (p.Lys541Asn)
c.1530G>C (p.Lys510Asn)
c.1782G>C (p.Lys594Asn)
c.1431G>C (p.Lys477Asn)
 ClinVar
1g.155290674C>TCA421019590PKLRc.1623G>A (p.Lys541=)
c.1530G>A (p.Lys510=)
c.1782G>A (p.Lys594=)
c.1431G>A (p.Lys477=)
1g.155290675T>ACA342748673PKLRc.1622A>T (p.Lys541Met)
c.1529A>T (p.Lys510Met)
c.1781A>T (p.Lys594Met)
c.1430A>T (p.Lys477Met)
1g.155290675T>CCA342748675PKLRc.1622A>G (p.Lys541Arg)
c.1529A>G (p.Lys510Arg)
c.1781A>G (p.Lys594Arg)
c.1430A>G (p.Lys477Arg)
1g.155290675T>GCA342748677PKLRc.1622A>C (p.Lys541Thr)
c.1529A>C (p.Lys510Thr)
c.1781A>C (p.Lys594Thr)
c.1430A>C (p.Lys477Thr)
1g.155290676T>ACA342748683PKLRc.1621A>T (p.Lys541Ter)
c.1528A>T (p.Lys510Ter)
c.1780A>T (p.Lys594Ter)
c.1429A>T (p.Lys477Ter)
1g.155290676T>CCA342748684PKLRc.1621A>G (p.Lys541Glu)
c.1528A>G (p.Lys510Glu)
c.1780A>G (p.Lys594Glu)
c.1429A>G (p.Lys477Glu)
 gnomAD v4
1g.155290676T>GCA342748688PKLRc.1621A>C (p.Lys541Gln)
c.1528A>C (p.Lys510Gln)
c.1780A>C (p.Lys594Gln)
c.1429A>C (p.Lys477Gln)
1g.155290677T>ACA421019602PKLRc.1620A>T (p.Gly540=)
c.1527A>T (p.Gly509=)
c.1779A>T (p.Gly593=)
c.1428A>T (p.Gly476=)
1g.155290677T>CCA421019600PKLRc.1620A>G (p.Gly540=)
c.1527A>G (p.Gly509=)
c.1779A>G (p.Gly593=)
c.1428A>G (p.Gly476=)
1g.155290677T>GCA421019598PKLRc.1620A>C (p.Gly540=)
c.1527A>C (p.Gly509=)
c.1779A>C (p.Gly593=)
c.1428A>C (p.Gly476=)
1g.155290678C>ACA342748691PKLRc.1619G>T (p.Gly540Val)
c.1526G>T (p.Gly509Val)
c.1778G>T (p.Gly593Val)
c.1427G>T (p.Gly476Val)
1g.155290678C>GCA342748693PKLRc.1619G>C (p.Gly540Ala)
c.1526G>C (p.Gly509Ala)
c.1778G>C (p.Gly593Ala)
c.1427G>C (p.Gly476Ala)
1g.155290678C>TCA342748696PKLRc.1619G>A (p.Gly540Glu)
c.1526G>A (p.Gly509Glu)
c.1778G>A (p.Gly593Glu)
c.1427G>A (p.Gly476Glu)
 gnomAD v4
1g.155290679C>ACA342748701PKLRc.1619-1G>T (n.1619-1G>T)
c.1526-1G>T (n.1526-1G>T)
c.1778-1G>T (n.1778-1G>T)
c.1427-1G>T (n.1427-1G>T)
1g.155290679C=CA2481224833PKLRc.1619-1G= (n.1619-1G=)
c.1526-1G= (n.1526-1G=)
c.1778-1G= (n.1778-1G=)
c.1427-1G= (n.1427-1G=)
1g.155290679C>GCA342748704PKLRc.1619-1G>C (n.1619-1G>C)
c.1526-1G>C (n.1526-1G>C)
c.1778-1G>C (n.1778-1G>C)
c.1427-1G>C (n.1427-1G>C)
1g.155290679C>TCA1143937PKLRc.1619-1G>A (n.1619-1G>A)
c.1526-1G>A (n.1526-1G>A)
c.1778-1G>A (n.1778-1G>A)
c.1427-1G>A (n.1427-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290680T>ACA342748707PKLRc.1619-2A>T (n.1619-2A>T)
c.1526-2A>T (n.1526-2A>T)
c.1778-2A>T (n.1778-2A>T)
c.1427-2A>T (n.1427-2A>T)
1g.155290680T>CCA342748717PKLRc.1619-2A>G (n.1619-2A>G)
c.1526-2A>G (n.1526-2A>G)
c.1778-2A>G (n.1778-2A>G)
c.1427-2A>G (n.1427-2A>G)
1g.155290680T>GCA342748718PKLRc.1619-2A>C (n.1619-2A>C)
c.1526-2A>C (n.1526-2A>C)
c.1778-2A>C (n.1778-2A>C)
c.1427-2A>C (n.1427-2A>C)
 gnomAD v4
1g.155290680T=CA2481224834PKLRc.1619-2A= (n.1619-2A=)
c.1526-2A= (n.1526-2A=)
c.1778-2A= (n.1778-2A=)
c.1427-2A= (n.1427-2A=)
1g.155290681G>ACA2648267114PKLRc.1619-3C>T (n.1619-3C>T)
c.1526-3C>T (n.1526-3C>T)
c.1778-3C>T (n.1778-3C>T)
c.1427-3C>T (n.1427-3C>T)
 gnomAD v4
1g.155290681G>CCA889655357PKLRc.1619-3C>G (n.1619-3C>G)
c.1526-3C>G (n.1526-3C>G)
c.1778-3C>G (n.1778-3C>G)
c.1427-3C>G (n.1427-3C>G)
 dbSNP
1g.155290681G=CA2481224835PKLRc.1619-3C= (n.1619-3C=)
c.1526-3C= (n.1526-3C=)
c.1778-3C= (n.1778-3C=)
c.1427-3C= (n.1427-3C=)
1g.155290681G>TCA1143938PKLRc.1619-3C>A (n.1619-3C>A)
c.1526-3C>A (n.1526-3C>A)
c.1778-3C>A (n.1778-3C>A)
c.1427-3C>A (n.1427-3C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155290685dupCA889655355PKLRc.1619-3dup (n.1619-3dup)
c.1526-3dup (n.1526-3dup)
c.1778-3dup (n.1778-3dup)
c.1427-3dup (n.1427-3dup)
 dbSNP gnomAD v4
1g.155290685delCA645531866PKLRc.1619-3del (n.1619-3del)
c.1526-3del (n.1526-3del)
c.1778-3del (n.1778-3del)
c.1427-3del (n.1427-3del)
 gnomAD v4 COSMIC
1g.155290682G>ACA2648267124PKLRc.1619-4C>T (n.1619-4C>T)
c.1526-4C>T (n.1526-4C>T)
c.1778-4C>T (n.1778-4C>T)
c.1427-4C>T (n.1427-4C>T)
 gnomAD v4
1g.155290682G>CCA2648267119PKLRc.1619-4C>G (n.1619-4C>G)
c.1526-4C>G (n.1526-4C>G)
c.1778-4C>G (n.1778-4C>G)
c.1427-4C>G (n.1427-4C>G)
 gnomAD v4
1g.155290682G>TCA2648267121PKLRc.1619-4C>A (n.1619-4C>A)
c.1526-4C>A (n.1526-4C>A)
c.1778-4C>A (n.1778-4C>A)
c.1427-4C>A (n.1427-4C>A)
 gnomAD v4
1g.155290683G>ACA2648267129PKLRc.1619-5C>T (n.1619-5C>T)
c.1526-5C>T (n.1526-5C>T)
c.1778-5C>T (n.1778-5C>T)
c.1427-5C>T (n.1427-5C>T)
 gnomAD v4
1g.155290683G>TCA2573915961PKLRc.1619-5C>A (n.1619-5C>A)
c.1526-5C>A (n.1526-5C>A)
c.1778-5C>A (n.1778-5C>A)
c.1427-5C>A (n.1427-5C>A)
 gnomAD v4
1g.155290684G>ACA30899452PKLRc.1619-6C>T (n.1619-6C>T)
c.1526-6C>T (n.1526-6C>T)
c.1778-6C>T (n.1778-6C>T)
c.1427-6C>T (n.1427-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155290684G=CA1143986803PKLRc.1619-6C= (n.1619-6C=)
c.1526-6C= (n.1526-6C=)
c.1778-6C= (n.1778-6C=)
c.1427-6C= (n.1427-6C=)
1g.155290684G>TCA2648267134PKLRc.1619-6C>A (n.1619-6C>A)
c.1526-6C>A (n.1526-6C>A)
c.1778-6C>A (n.1778-6C>A)
c.1427-6C>A (n.1427-6C>A)
 gnomAD v4
1g.155290685G>ACA526429865PKLRc.1619-7C>T (n.1619-7C>T)
c.1526-7C>T (n.1526-7C>T)
c.1778-7C>T (n.1778-7C>T)
c.1427-7C>T (n.1427-7C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155290685G=CA2481224836PKLRc.1619-7C= (n.1619-7C=)
c.1526-7C= (n.1526-7C=)
c.1778-7C= (n.1778-7C=)
c.1427-7C= (n.1427-7C=)
1g.155290685G>TCA2648267138PKLRc.1619-7C>A (n.1619-7C>A)
c.1526-7C>A (n.1526-7C>A)
c.1778-7C>A (n.1778-7C>A)
c.1427-7C>A (n.1427-7C>A)
 gnomAD v4
1g.155290686delCA2648267140PKLRc.1619-8del (n.1619-8del)
c.1526-8del (n.1526-8del)
c.1778-8del (n.1778-8del)
c.1427-8del (n.1427-8del)
 gnomAD v4
1g.155290686A>GCA2573916010PKLRc.1619-8T>C (n.1619-8T>C)
c.1526-8T>C (n.1526-8T>C)
c.1778-8T>C (n.1778-8T>C)
c.1427-8T>C (n.1427-8T>C)
 gnomAD v4
1g.155290687G>ACA2573568232PKLRc.1619-9C>T (n.1619-9C>T)
c.1526-9C>T (n.1526-9C>T)
c.1778-9C>T (n.1778-9C>T)
c.1427-9C>T (n.1427-9C>T)
 gnomAD v4
1g.155290687G>TCA2648267143PKLRc.1619-9C>A (n.1619-9C>A)
c.1526-9C>A (n.1526-9C>A)
c.1778-9C>A (n.1778-9C>A)
c.1427-9C>A (n.1427-9C>A)
 gnomAD v4
1g.155290688G>ACA1007984845PKLRc.1619-10C>T (n.1619-10C>T)
c.1526-10C>T (n.1526-10C>T)
c.1778-10C>T (n.1778-10C>T)
c.1427-10C>T (n.1427-10C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.155290688G=CA2481224837PKLRc.1619-10C= (n.1619-10C=)
c.1526-10C= (n.1526-10C=)
c.1778-10C= (n.1778-10C=)
c.1427-10C= (n.1427-10C=)
1g.155290688G>TCA2648267145PKLRc.1619-10C>A (n.1619-10C>A)
c.1526-10C>A (n.1526-10C>A)
c.1778-10C>A (n.1778-10C>A)
c.1427-10C>A (n.1427-10C>A)
 gnomAD v4
1g.155290689G>ACA526429867PKLRc.1619-11C>T (n.1619-11C>T)
c.1526-11C>T (n.1526-11C>T)
c.1778-11C>T (n.1778-11C>T)
c.1427-11C>T (n.1427-11C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.155290689G=CA2481224838PKLRc.1619-11C= (n.1619-11C=)
c.1526-11C= (n.1526-11C=)
c.1778-11C= (n.1778-11C=)
c.1427-11C= (n.1427-11C=)
1g.155290689G>TCA2573916016PKLRc.1619-11C>A (n.1619-11C>A)
c.1526-11C>A (n.1526-11C>A)
c.1778-11C>A (n.1778-11C>A)
c.1427-11C>A (n.1427-11C>A)
 gnomAD v4
1g.155290690A=CA2481224839PKLRc.1619-12T= (n.1619-12T=)
c.1526-12T= (n.1526-12T=)
c.1778-12T= (n.1778-12T=)
c.1427-12T= (n.1427-12T=)
1g.155290690A>CCA2481224840PKLRc.1619-12T>G (n.1619-12T>G)
c.1526-12T>G (n.1526-12T>G)
c.1778-12T>G (n.1778-12T>G)
c.1427-12T>G (n.1427-12T>G)
 dbSNP
1g.155290690A>TCA2648267156PKLRc.1619-12T>A (n.1619-12T>A)
c.1526-12T>A (n.1526-12T>A)
c.1778-12T>A (n.1778-12T>A)
c.1427-12T>A (n.1427-12T>A)
 gnomAD v4
1g.155290691A=CA2481224841PKLRc.1619-13T= (n.1619-13T=)
c.1526-13T= (n.1526-13T=)
c.1778-13T= (n.1778-13T=)
c.1427-13T= (n.1427-13T=)
1g.155290691A>GCA526429868PKLRc.1619-13T>C (n.1619-13T>C)
c.1526-13T>C (n.1526-13T>C)
c.1778-13T>C (n.1778-13T>C)
c.1427-13T>C (n.1427-13T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.155290693G>ACA2648267160PKLRc.1619-15C>T (n.1619-15C>T)
c.1526-15C>T (n.1526-15C>T)
c.1778-15C>T (n.1778-15C>T)
c.1427-15C>T (n.1427-15C>T)
 gnomAD v4
1g.155290693G>TCA2648267162PKLRc.1619-15C>A (n.1619-15C>A)
c.1526-15C>A (n.1526-15C>A)
c.1778-15C>A (n.1778-15C>A)
c.1427-15C>A (n.1427-15C>A)
 gnomAD v4
1g.155290694A>CCA2648267164PKLRc.1619-16T>G (n.1619-16T>G)
c.1526-16T>G (n.1526-16T>G)
c.1778-16T>G (n.1778-16T>G)
c.1427-16T>G (n.1427-16T>G)
 gnomAD v4
1g.155290694A>GCA2648267166PKLRc.1619-16T>C (n.1619-16T>C)
c.1526-16T>C (n.1526-16T>C)
c.1778-16T>C (n.1778-16T>C)
c.1427-16T>C (n.1427-16T>C)
 gnomAD v4
1g.155290695A>GCA2648267167PKLRc.1619-17T>C (n.1619-17T>C)
c.1526-17T>C (n.1526-17T>C)
c.1778-17T>C (n.1778-17T>C)
c.1427-17T>C (n.1427-17T>C)
 gnomAD v4
1g.155290696A>GCA2648267168PKLRc.1619-18T>C (n.1619-18T>C)
c.1526-18T>C (n.1526-18T>C)
c.1778-18T>C (n.1778-18T>C)
c.1427-18T>C (n.1427-18T>C)
 gnomAD v4
1g.155290697A>GCA2746210343PKLRc.1619-19T>C (n.1619-19T>C)
c.1526-19T>C (n.1526-19T>C)
c.1778-19T>C (n.1778-19T>C)
c.1427-19T>C (n.1427-19T>C)
1g.155290700A>CCA2573916017PKLRc.1619-22T>G (n.1619-22T>G)
c.1526-22T>G (n.1526-22T>G)
c.1778-22T>G (n.1778-22T>G)
c.1427-22T>G (n.1427-22T>G)
1g.155290700A>GCA2648267169PKLRc.1619-22T>C (n.1619-22T>C)
c.1526-22T>C (n.1526-22T>C)
c.1778-22T>C (n.1778-22T>C)
c.1427-22T>C (n.1427-22T>C)
 gnomAD v4
1g.155290700A>TCA2648267170PKLRc.1619-22T>A (n.1619-22T>A)
c.1526-22T>A (n.1526-22T>A)
c.1778-22T>A (n.1778-22T>A)
c.1427-22T>A (n.1427-22T>A)
 gnomAD v4
1g.155290701A>CCA2648267172PKLRc.1619-23T>G (n.1619-23T>G)
c.1526-23T>G (n.1526-23T>G)
c.1778-23T>G (n.1778-23T>G)
c.1427-23T>G (n.1427-23T>G)
 gnomAD v4
1g.155290701A>GCA2648267173PKLRc.1619-23T>C (n.1619-23T>C)
c.1526-23T>C (n.1526-23T>C)
c.1778-23T>C (n.1778-23T>C)
c.1427-23T>C (n.1427-23T>C)
 gnomAD v4
1g.155290702T>ACA2746210344PKLRc.1619-24A>T (n.1619-24A>T)
c.1526-24A>T (n.1526-24A>T)
c.1778-24A>T (n.1778-24A>T)
c.1427-24A>T (n.1427-24A>T)
1g.155290702T>CCA2648267175PKLRc.1619-24A>G (n.1619-24A>G)
c.1526-24A>G (n.1526-24A>G)
c.1778-24A>G (n.1778-24A>G)
c.1427-24A>G (n.1427-24A>G)
 gnomAD v4
1g.155290703C>TCA2746210345PKLRc.1619-25G>A (n.1619-25G>A)
c.1526-25G>A (n.1526-25G>A)
c.1778-25G>A (n.1778-25G>A)
c.1427-25G>A (n.1427-25G>A)
1g.155290704A>GCA2648267177PKLRc.1619-26T>C (n.1619-26T>C)
c.1526-26T>C (n.1526-26T>C)
c.1778-26T>C (n.1778-26T>C)
c.1427-26T>C (n.1427-26T>C)
 gnomAD v4
1g.155290705T>CCA1007984846PKLRc.1619-27A>G (n.1619-27A>G)
c.1526-27A>G (n.1526-27A>G)
c.1778-27A>G (n.1778-27A>G)
c.1427-27A>G (n.1427-27A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.155290705T=CA2481224842PKLRc.1619-27A= (n.1619-27A=)
c.1526-27A= (n.1526-27A=)
c.1778-27A= (n.1778-27A=)
c.1427-27A= (n.1427-27A=)
1g.155290707G>ACA2648267179PKLRc.1619-29C>T (n.1619-29C>T)
c.1526-29C>T (n.1526-29C>T)
c.1778-29C>T (n.1778-29C>T)
c.1427-29C>T (n.1427-29C>T)
 gnomAD v4
1g.155290707G>TCA2648267180PKLRc.1619-29C>A (n.1619-29C>A)
c.1526-29C>A (n.1526-29C>A)
c.1778-29C>A (n.1778-29C>A)
c.1427-29C>A (n.1427-29C>A)
 gnomAD v4
1g.155290708G>TCA2573568233PKLRc.1619-30C>A (n.1619-30C>A)
c.1526-30C>A (n.1526-30C>A)
c.1778-30C>A (n.1778-30C>A)
c.1427-30C>A (n.1427-30C>A)
 gnomAD v4
1g.155290710C=CA2481224843PKLRc.1619-32G= (n.1619-32G=)
c.1526-32G= (n.1526-32G=)
c.1778-32G= (n.1778-32G=)
c.1427-32G= (n.1427-32G=)
1g.155290710C>GCA2481224844PKLRc.1619-32G>C (n.1619-32G>C)
c.1526-32G>C (n.1526-32G>C)
c.1778-32G>C (n.1778-32G>C)
c.1427-32G>C (n.1427-32G>C)
 dbSNP
1g.155290710C>TCA1007984847PKLRc.1619-32G>A (n.1619-32G>A)
c.1526-32G>A (n.1526-32G>A)
c.1778-32G>A (n.1778-32G>A)
c.1427-32G>A (n.1427-32G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.155290711A=CA2481224845PKLRc.1619-33T= (n.1619-33T=)
c.1526-33T= (n.1526-33T=)
c.1778-33T= (n.1778-33T=)
c.1427-33T= (n.1427-33T=)
1g.155290711A>CCA1143939PKLRc.1619-33T>G (n.1619-33T>G)
c.1526-33T>G (n.1526-33T>G)
c.1778-33T>G (n.1778-33T>G)
c.1427-33T>G (n.1427-33T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155290711A>GCA2573916020PKLRc.1619-33T>C (n.1619-33T>C)
c.1526-33T>C (n.1526-33T>C)
c.1778-33T>C (n.1778-33T>C)
c.1427-33T>C (n.1427-33T>C)

Number of alleles fetched