Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155291817_155291822delCA2586967518PKLRc.1553_1558del (p.Arg518_Glu519del)
c.1460_1465del (p.Arg487_Glu488del)
c.1712_1717del (p.Arg571_Glu572del)
c.1361_1366del (p.Arg454_Glu455del)
1g.155291818T>ACA342750749PKLRc.1556A>T (p.Glu519Val)
c.1463A>T (p.Glu488Val)
c.1715A>T (p.Glu572Val)
c.1364A>T (p.Glu455Val)
1g.155291818T>CCA342750752PKLRc.1556A>G (p.Glu519Gly)
c.1463A>G (p.Glu488Gly)
c.1715A>G (p.Glu572Gly)
c.1364A>G (p.Glu455Gly)
1g.155291818T>GCA342750754PKLRc.1556A>C (p.Glu519Ala)
c.1463A>C (p.Glu488Ala)
c.1715A>C (p.Glu572Ala)
c.1364A>C (p.Glu455Ala)
1g.155291819C>ACA342750760PKLRc.1555G>T (p.Glu519Ter)
c.1462G>T (p.Glu488Ter)
c.1714G>T (p.Glu572Ter)
c.1363G>T (p.Glu455Ter)
1g.155291819C=CA2481225407PKLRc.1555G= (p.Glu519=)
c.1462G= (p.Glu488=)
c.1714G= (p.Glu572=)
c.1363G= (p.Glu455=)
1g.155291819C>GCA342750763PKLRc.1555G>C (p.Glu519Gln)
c.1462G>C (p.Glu488Gln)
c.1714G>C (p.Glu572Gln)
c.1363G>C (p.Glu455Gln)
 dbSNP gnomAD v4
1g.155291819C>TCA342750757PKLRc.1555G>A (p.Glu519Lys)
c.1462G>A (p.Glu488Lys)
c.1714G>A (p.Glu572Lys)
c.1363G>A (p.Glu455Lys)
 ClinVar gnomAD v4
1g.155291820A=CA1149126240PKLRc.1554T= (p.Arg518=)
c.1461T= (p.Arg487=)
c.1713T= (p.Arg571=)
c.1362T= (p.Arg454=)
1g.155291820A>CCA421020154PKLRc.1554T>G (p.Arg518=)
c.1461T>G (p.Arg487=)
c.1713T>G (p.Arg571=)
c.1362T>G (p.Arg454=)
1g.155291820A>GCA421020155PKLRc.1554T>C (p.Arg518=)
c.1461T>C (p.Arg487=)
c.1713T>C (p.Arg571=)
c.1362T>C (p.Arg454=)
1g.155291820A>TCA1143968PKLRc.1554T>A (p.Arg518=)
c.1461T>A (p.Arg487=)
c.1713T>A (p.Arg571=)
c.1362T>A (p.Arg454=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291821delCA2586967519PKLRc.1553del (p.Arg518LeufsTer12)
c.1460del (p.Arg487LeufsTer12)
c.1712del (p.Arg571LeufsTer12)
c.1361del (p.Arg454LeufsTer12)
1g.155291821C>ACA342750770PKLRc.1553G>T (p.Arg518Leu)
c.1460G>T (p.Arg487Leu)
c.1712G>T (p.Arg571Leu)
c.1361G>T (p.Arg454Leu)
1g.155291821C=CA2481225408PKLRc.1553G= (p.Arg518=)
c.1460G= (p.Arg487=)
c.1712G= (p.Arg571=)
c.1361G= (p.Arg454=)
1g.155291821C>GCA342750771PKLRc.1553G>C (p.Arg518Pro)
c.1460G>C (p.Arg487Pro)
c.1712G>C (p.Arg571Pro)
c.1361G>C (p.Arg454Pro)
1g.155291821C>TCA1143969PKLRc.1553G>A (p.Arg518His)
c.1460G>A (p.Arg487His)
c.1712G>A (p.Arg571His)
c.1361G>A (p.Arg454His)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.155291822G>ACA1143970PKLRc.1552C>T (p.Arg518Cys)
c.1459C>T (p.Arg487Cys)
c.1711C>T (p.Arg571Cys)
c.1360C>T (p.Arg454Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291822G>CCA342750776PKLRc.1552C>G (p.Arg518Gly)
c.1459C>G (p.Arg487Gly)
c.1711C>G (p.Arg571Gly)
c.1360C>G (p.Arg454Gly)
1g.155291822G=CA1141653696PKLRc.1552C= (p.Arg518=)
c.1459C= (p.Arg487=)
c.1711C= (p.Arg571=)
c.1360C= (p.Arg454=)
1g.155291822G>TCA342750782PKLRc.1552C>A (p.Arg518Ser)
c.1459C>A (p.Arg487Ser)
c.1711C>A (p.Arg571Ser)
c.1360C>A (p.Arg454Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155291823G>ACA421020156PKLRc.1551C>T (p.Tyr517=)
c.1458C>T (p.Tyr486=)
c.1710C>T (p.Tyr570=)
c.1359C>T (p.Tyr453=)
 gnomAD v4
1g.155291823G>CCA342750786PKLRc.1551C>G (p.Tyr517Ter)
c.1458C>G (p.Tyr486Ter)
c.1710C>G (p.Tyr570Ter)
c.1359C>G (p.Tyr453Ter)
1g.155291823G>TCA342750789PKLRc.1551C>A (p.Tyr517Ter)
c.1458C>A (p.Tyr486Ter)
c.1710C>A (p.Tyr570Ter)
c.1359C>A (p.Tyr453Ter)
1g.155291824T>ACA342750811PKLRc.1550A>T (p.Tyr517Phe)
c.1457A>T (p.Tyr486Phe)
c.1709A>T (p.Tyr570Phe)
c.1358A>T (p.Tyr453Phe)
1g.155291824T>CCA342750813PKLRc.1550A>G (p.Tyr517Cys)
c.1457A>G (p.Tyr486Cys)
c.1709A>G (p.Tyr570Cys)
c.1358A>G (p.Tyr453Cys)
1g.155291824T>GCA342750816PKLRc.1550A>C (p.Tyr517Ser)
c.1457A>C (p.Tyr486Ser)
c.1709A>C (p.Tyr570Ser)
c.1358A>C (p.Tyr453Ser)
 dbSNP
1g.155291825A>CCA342750824PKLRc.1549T>G (p.Tyr517Asp)
c.1456T>G (p.Tyr486Asp)
c.1708T>G (p.Tyr570Asp)
c.1357T>G (p.Tyr453Asp)
1g.155291825A>GCA342750831PKLRc.1549T>C (p.Tyr517His)
c.1456T>C (p.Tyr486His)
c.1708T>C (p.Tyr570His)
c.1357T>C (p.Tyr453His)
1g.155291825A>TCA342750822PKLRc.1549T>A (p.Tyr517Asn)
c.1456T>A (p.Tyr486Asn)
c.1708T>A (p.Tyr570Asn)
c.1357T>A (p.Tyr453Asn)
1g.155291826A>CCA421020157PKLRc.1548T>G (p.Leu516=)
c.1455T>G (p.Leu485=)
c.1707T>G (p.Leu569=)
c.1356T>G (p.Leu452=)
1g.155291826A>GCA421020158PKLRc.1548T>C (p.Leu516=)
c.1455T>C (p.Leu485=)
c.1707T>C (p.Leu569=)
c.1356T>C (p.Leu452=)
1g.155291826A>TCA421020159PKLRc.1548T>A (p.Leu516=)
c.1455T>A (p.Leu485=)
c.1707T>A (p.Leu569=)
c.1356T>A (p.Leu452=)
1g.155291827A=CA2481225409PKLRc.1547T= (p.Leu516=)
c.1454T= (p.Leu485=)
c.1706T= (p.Leu569=)
c.1355T= (p.Leu452=)
1g.155291827A>CCA342750834PKLRc.1547T>G (p.Leu516Arg)
c.1454T>G (p.Leu485Arg)
c.1706T>G (p.Leu569Arg)
c.1355T>G (p.Leu452Arg)
1g.155291827A>GCA30900269PKLRc.1547T>C (p.Leu516Pro)
c.1454T>C (p.Leu485Pro)
c.1706T>C (p.Leu569Pro)
c.1355T>C (p.Leu452Pro)
 dbSNP
1g.155291827A>TCA342750840PKLRc.1547T>A (p.Leu516His)
c.1454T>A (p.Leu485His)
c.1706T>A (p.Leu569His)
c.1355T>A (p.Leu452His)
1g.155291828G>ACA342750851PKLRc.1546C>T (p.Leu516Phe)
c.1453C>T (p.Leu485Phe)
c.1705C>T (p.Leu569Phe)
c.1354C>T (p.Leu452Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.155291828G>CCA342750852PKLRc.1546C>G (p.Leu516Val)
c.1453C>G (p.Leu485Val)
c.1705C>G (p.Leu569Val)
c.1354C>G (p.Leu452Val)
 gnomAD v4
1g.155291828G=CA2481225410PKLRc.1546C= (p.Leu516=)
c.1453C= (p.Leu485=)
c.1705C= (p.Leu569=)
c.1354C= (p.Leu452=)
1g.155291828G>TCA342750854PKLRc.1546C>A (p.Leu516Ile)
c.1453C>A (p.Leu485Ile)
c.1705C>A (p.Leu569Ile)
c.1354C>A (p.Leu452Ile)
1g.155291829C>ACA342750860PKLRc.1545G>T (p.Leu515Phe)
c.1452G>T (p.Leu484Phe)
c.1704G>T (p.Leu568Phe)
c.1353G>T (p.Leu451Phe)
1g.155291829C>GCA342750861PKLRc.1545G>C (p.Leu515Phe)
c.1452G>C (p.Leu484Phe)
c.1704G>C (p.Leu568Phe)
c.1353G>C (p.Leu451Phe)
1g.155291829C>TCA421020160PKLRc.1545G>A (p.Leu515=)
c.1452G>A (p.Leu484=)
c.1704G>A (p.Leu568=)
c.1353G>A (p.Leu451=)
1g.155291830A=CA2481225411PKLRc.1544T= (p.Leu515=)
c.1451T= (p.Leu484=)
c.1703T= (p.Leu568=)
c.1352T= (p.Leu451=)
1g.155291830A>CCA342750862PKLRc.1544T>G (p.Leu515Trp)
c.1451T>G (p.Leu484Trp)
c.1703T>G (p.Leu568Trp)
c.1352T>G (p.Leu451Trp)
1g.155291830A>GCA342750863PKLRc.1544T>C (p.Leu515Ser)
c.1451T>C (p.Leu484Ser)
c.1703T>C (p.Leu568Ser)
c.1352T>C (p.Leu451Ser)
 dbSNP
1g.155291830A>TCA342750864PKLRc.1544T>A (p.Leu515Ter)
c.1451T>A (p.Leu484Ter)
c.1703T>A (p.Leu568Ter)
c.1352T>A (p.Leu451Ter)
1g.155291831A>CCA342750867PKLRc.1543T>G (p.Leu515Val)
c.1450T>G (p.Leu484Val)
c.1702T>G (p.Leu568Val)
c.1351T>G (p.Leu451Val)
1g.155291831A>GCA421020161PKLRc.1543T>C (p.Leu515=)
c.1450T>C (p.Leu484=)
c.1702T>C (p.Leu568=)
c.1351T>C (p.Leu451=)
1g.155291831A>TCA342750874PKLRc.1543T>A (p.Leu515Met)
c.1450T>A (p.Leu484Met)
c.1702T>A (p.Leu568Met)
c.1351T>A (p.Leu451Met)
1g.155291832G>ACA421020164PKLRc.1542C>T (p.Pro514=)
c.1449C>T (p.Pro483=)
c.1701C>T (p.Pro567=)
c.1350C>T (p.Pro450=)
1g.155291832G>CCA421020163PKLRc.1542C>G (p.Pro514=)
c.1449C>G (p.Pro483=)
c.1701C>G (p.Pro567=)
c.1350C>G (p.Pro450=)
1g.155291832G>TCA421020162PKLRc.1542C>A (p.Pro514=)
c.1449C>A (p.Pro483=)
c.1701C>A (p.Pro567=)
c.1350C>A (p.Pro450=)
1g.155291835dupCA2580061122PKLRc.1542dup (p.Leu516AlafsTer4)
c.1449dup (p.Leu485AlafsTer4)
c.1701dup (p.Leu569AlafsTer4)
c.1350dup (p.Leu452AlafsTer4)
 ClinVar
1g.155291833G>ACA342750879PKLRc.1541C>T (p.Pro514Leu)
c.1448C>T (p.Pro483Leu)
c.1700C>T (p.Pro567Leu)
c.1349C>T (p.Pro450Leu)
1g.155291833G>CCA342750882PKLRc.1541C>G (p.Pro514Arg)
c.1448C>G (p.Pro483Arg)
c.1700C>G (p.Pro567Arg)
c.1349C>G (p.Pro450Arg)
 gnomAD v4
1g.155291833G>TCA342750881PKLRc.1541C>A (p.Pro514His)
c.1448C>A (p.Pro483His)
c.1700C>A (p.Pro567His)
c.1349C>A (p.Pro450His)
1g.155291834G>ACA342750883PKLRc.1540C>T (p.Pro514Ser)
c.1447C>T (p.Pro483Ser)
c.1699C>T (p.Pro567Ser)
c.1348C>T (p.Pro450Ser)
1g.155291834G>CCA342750890PKLRc.1540C>G (p.Pro514Ala)
c.1447C>G (p.Pro483Ala)
c.1699C>G (p.Pro567Ala)
c.1348C>G (p.Pro450Ala)
1g.155291834G>TCA342750886PKLRc.1540C>A (p.Pro514Thr)
c.1447C>A (p.Pro483Thr)
c.1699C>A (p.Pro567Thr)
c.1348C>A (p.Pro450Thr)
1g.155291835G>ACA1143971PKLRc.1539C>T (p.Phe513=)
c.1446C>T (p.Phe482=)
c.1698C>T (p.Phe566=)
c.1347C>T (p.Phe449=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291835G>CCA342750896PKLRc.1539C>G (p.Phe513Leu)
c.1446C>G (p.Phe482Leu)
c.1698C>G (p.Phe566Leu)
c.1347C>G (p.Phe449Leu)
1g.155291835G=CA1143799118PKLRc.1539C= (p.Phe513=)
c.1446C= (p.Phe482=)
c.1698C= (p.Phe566=)
c.1347C= (p.Phe449=)
1g.155291835G>TCA342750903PKLRc.1539C>A (p.Phe513Leu)
c.1446C>A (p.Phe482Leu)
c.1698C>A (p.Phe566Leu)
c.1347C>A (p.Phe449Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.155291836A>CCA342750906PKLRc.1538T>G (p.Phe513Cys)
c.1445T>G (p.Phe482Cys)
c.1697T>G (p.Phe566Cys)
c.1346T>G (p.Phe449Cys)
1g.155291836A>GCA342750908PKLRc.1538T>C (p.Phe513Ser)
c.1445T>C (p.Phe482Ser)
c.1697T>C (p.Phe566Ser)
c.1346T>C (p.Phe449Ser)
1g.155291836A>TCA342750912PKLRc.1538T>A (p.Phe513Tyr)
c.1445T>A (p.Phe482Tyr)
c.1697T>A (p.Phe566Tyr)
c.1346T>A (p.Phe449Tyr)
1g.155291837A=CA2481225412PKLRc.1537T= (p.Phe513=)
c.1444T= (p.Phe482=)
c.1696T= (p.Phe566=)
c.1345T= (p.Phe449=)
1g.155291837A>CCA342750917PKLRc.1537T>G (p.Phe513Val)
c.1444T>G (p.Phe482Val)
c.1696T>G (p.Phe566Val)
c.1345T>G (p.Phe449Val)
1g.155291837A>GCA342750919PKLRc.1537T>C (p.Phe513Leu)
c.1444T>C (p.Phe482Leu)
c.1696T>C (p.Phe566Leu)
c.1345T>C (p.Phe449Leu)
 dbSNP
1g.155291837A>TCA342750921PKLRc.1537T>A (p.Phe513Ile)
c.1444T>A (p.Phe482Ile)
c.1696T>A (p.Phe566Ile)
c.1345T>A (p.Phe449Ile)
1g.155291838G>ACA421020165PKLRc.1536C>T (p.Val512=)
c.1443C>T (p.Val481=)
c.1695C>T (p.Val565=)
c.1344C>T (p.Val448=)
1g.155291838G>CCA421020166PKLRc.1536C>G (p.Val512=)
c.1443C>G (p.Val481=)
c.1695C>G (p.Val565=)
c.1344C>G (p.Val448=)
1g.155291838G>TCA421020167PKLRc.1536C>A (p.Val512=)
c.1443C>A (p.Val481=)
c.1695C>A (p.Val565=)
c.1344C>A (p.Val448=)
1g.155291839A>CCA342750922PKLRc.1535T>G (p.Val512Gly)
c.1442T>G (p.Val481Gly)
c.1694T>G (p.Val565Gly)
c.1343T>G (p.Val448Gly)
1g.155291839A>GCA342750923PKLRc.1535T>C (p.Val512Ala)
c.1442T>C (p.Val481Ala)
c.1694T>C (p.Val565Ala)
c.1343T>C (p.Val448Ala)
 gnomAD v4
1g.155291839A>TCA342750926PKLRc.1535T>A (p.Val512Asp)
c.1442T>A (p.Val481Asp)
c.1694T>A (p.Val565Asp)
c.1343T>A (p.Val448Asp)
1g.155291840C>ACA342750936PKLRc.1534G>T (p.Val512Phe)
c.1441G>T (p.Val481Phe)
c.1693G>T (p.Val565Phe)
c.1342G>T (p.Val448Phe)
1g.155291840C>GCA342750934PKLRc.1534G>C (p.Val512Leu)
c.1441G>C (p.Val481Leu)
c.1693G>C (p.Val565Leu)
c.1342G>C (p.Val448Leu)
1g.155291840C>TCA342750935PKLRc.1534G>A (p.Val512Ile)
c.1441G>A (p.Val481Ile)
c.1693G>A (p.Val565Ile)
c.1342G>A (p.Val448Ile)
1g.155291843_155291845delCA2648267771PKLRc.1532_1534del (p.Gly511del)
c.1439_1441del (p.Gly480del)
c.1691_1693del (p.Gly564del)
c.1340_1342del (p.Gly447del)
 gnomAD v4
1g.155291841T>ACA421020168PKLRc.1533A>T (p.Gly511=)
c.1440A>T (p.Gly480=)
c.1692A>T (p.Gly564=)
c.1341A>T (p.Gly447=)
1g.155291841T>CCA421020169PKLRc.1533A>G (p.Gly511=)
c.1440A>G (p.Gly480=)
c.1692A>G (p.Gly564=)
c.1341A>G (p.Gly447=)
1g.155291841T>GCA421020170PKLRc.1533A>C (p.Gly511=)
c.1440A>C (p.Gly480=)
c.1692A>C (p.Gly564=)
c.1341A>C (p.Gly447=)
1g.155291842C>ACA342750937PKLRc.1532G>T (p.Gly511Val)
c.1439G>T (p.Gly480Val)
c.1691G>T (p.Gly564Val)
c.1340G>T (p.Gly447Val)
1g.155291842C>GCA342750939PKLRc.1532G>C (p.Gly511Ala)
c.1439G>C (p.Gly480Ala)
c.1691G>C (p.Gly564Ala)
c.1340G>C (p.Gly447Ala)
1g.155291842C>TCA342750941PKLRc.1532G>A (p.Gly511Glu)
c.1439G>A (p.Gly480Glu)
c.1691G>A (p.Gly564Glu)
c.1340G>A (p.Gly447Glu)
1g.155291843C>ACA342750946PKLRc.1531G>T (p.Gly511Ter)
c.1438G>T (p.Gly480Ter)
c.1690G>T (p.Gly564Ter)
c.1339G>T (p.Gly447Ter)
1g.155291843C=CA2481225413PKLRc.1531G= (p.Gly511=)
c.1438G= (p.Gly480=)
c.1690G= (p.Gly564=)
c.1339G= (p.Gly447=)
1g.155291843C>GCA342750951PKLRc.1531G>C (p.Gly511Arg)
c.1438G>C (p.Gly480Arg)
c.1690G>C (p.Gly564Arg)
c.1339G>C (p.Gly447Arg)
1g.155291843C>TCA342750954PKLRc.1531G>A (p.Gly511Arg)
c.1438G>A (p.Gly480Arg)
c.1690G>A (p.Gly564Arg)
c.1339G>A (p.Gly447Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155291844T>ACA421020171PKLRc.1530A>T (p.Arg510=)
c.1437A>T (p.Arg479=)
c.1689A>T (p.Arg563=)
c.1338A>T (p.Arg446=)
1g.155291844T>CCA421020172PKLRc.1530A>G (p.Arg510=)
c.1437A>G (p.Arg479=)
c.1689A>G (p.Arg563=)
c.1338A>G (p.Arg446=)
1g.155291844T>GCA421020173PKLRc.1530A>C (p.Arg510=)
c.1437A>C (p.Arg479=)
c.1689A>C (p.Arg563=)
c.1338A>C (p.Arg446=)
1g.155291845C>ACA342750962PKLRc.1529G>T (p.Arg510Leu)
c.1436G>T (p.Arg479Leu)
c.1688G>T (p.Arg563Leu)
c.1337G>T (p.Arg446Leu)
 gnomAD v4
1g.155291845C=CA1141334538PKLRc.1529G= (p.Arg510=)
c.1436G= (p.Arg479=)
c.1688G= (p.Arg563=)
c.1337G= (p.Arg446=)
1g.155291845C>GCA342750964PKLRc.1529G>C (p.Arg510Pro)
c.1436G>C (p.Arg479Pro)
c.1688G>C (p.Arg563Pro)
c.1337G>C (p.Arg446Pro)
1g.155291845C>TCA215079PKLRc.1529G>A (p.Arg510Gln)
c.1436G>A (p.Arg479Gln)
c.1688G>A (p.Arg563Gln)
c.1337G>A (p.Arg446Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291846G>ACA342750975PKLRc.1528C>T (p.Arg510Ter)
c.1435C>T (p.Arg479Ter)
c.1687C>T (p.Arg563Ter)
c.1336C>T (p.Arg446Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291846G>CCA342750980PKLRc.1528C>G (p.Arg510Gly)
c.1435C>G (p.Arg479Gly)
c.1687C>G (p.Arg563Gly)
c.1336C>G (p.Arg446Gly)
 gnomAD v4
1g.155291846G=CA2481225414PKLRc.1528C= (p.Arg510=)
c.1435C= (p.Arg479=)
c.1687C= (p.Arg563=)
c.1336C= (p.Arg446=)
1g.155291846G>TCA421020174PKLRc.1528C>A (p.Arg510=)
c.1435C>A (p.Arg479=)
c.1687C>A (p.Arg563=)
c.1336C>A (p.Arg446=)
1g.155291847G>ACA421020175PKLRc.1527C>T (p.Cys509=)
c.1434C>T (p.Cys478=)
c.1686C>T (p.Cys562=)
c.1335C>T (p.Cys445=)
1g.155291847G>CCA342750990PKLRc.1527C>G (p.Cys509Trp)
c.1434C>G (p.Cys478Trp)
c.1686C>G (p.Cys562Trp)
c.1335C>G (p.Cys445Trp)
1g.155291847G=CA2481225415PKLRc.1527C= (p.Cys509=)
c.1434C= (p.Cys478=)
c.1686C= (p.Cys562=)
c.1335C= (p.Cys445=)
1g.155291847G>TCA342750988PKLRc.1527C>A (p.Cys509Ter)
c.1434C>A (p.Cys478Ter)
c.1686C>A (p.Cys562Ter)
c.1335C>A (p.Cys445Ter)
 dbSNP
1g.155291848C>ACA342750993PKLRc.1526G>T (p.Cys509Phe)
c.1433G>T (p.Cys478Phe)
c.1685G>T (p.Cys562Phe)
c.1334G>T (p.Cys445Phe)
1g.155291848C>GCA342750995PKLRc.1526G>C (p.Cys509Ser)
c.1433G>C (p.Cys478Ser)
c.1685G>C (p.Cys562Ser)
c.1334G>C (p.Cys445Ser)
1g.155291848C>TCA342751000PKLRc.1526G>A (p.Cys509Tyr)
c.1433G>A (p.Cys478Tyr)
c.1685G>A (p.Cys562Tyr)
c.1334G>A (p.Cys445Tyr)
1g.155291849A=CA2481225416PKLRc.1525T= (p.Cys509=)
c.1432T= (p.Cys478=)
c.1684T= (p.Cys562=)
c.1333T= (p.Cys445=)
1g.155291849A>CCA342751005PKLRc.1525T>G (p.Cys509Gly)
c.1432T>G (p.Cys478Gly)
c.1684T>G (p.Cys562Gly)
c.1333T>G (p.Cys445Gly)
1g.155291849A>GCA30900280PKLRc.1525T>C (p.Cys509Arg)
c.1432T>C (p.Cys478Arg)
c.1684T>C (p.Cys562Arg)
c.1333T>C (p.Cys445Arg)
 dbSNP gnomAD v4
1g.155291849A>TCA342751021PKLRc.1525T>A (p.Cys509Ser)
c.1432T>A (p.Cys478Ser)
c.1684T>A (p.Cys562Ser)
c.1333T>A (p.Cys445Ser)
1g.155291850T>ACA342751026PKLRc.1524A>T (p.Leu508Phe)
c.1431A>T (p.Leu477Phe)
c.1683A>T (p.Leu561Phe)
c.1332A>T (p.Leu444Phe)
1g.155291850T>CCA421020176PKLRc.1524A>G (p.Leu508=)
c.1431A>G (p.Leu477=)
c.1683A>G (p.Leu561=)
c.1332A>G (p.Leu444=)
1g.155291850T>GCA342751030PKLRc.1524A>C (p.Leu508Phe)
c.1431A>C (p.Leu477Phe)
c.1683A>C (p.Leu561Phe)
c.1332A>C (p.Leu444Phe)
1g.155291851A>CCA342751035PKLRc.1523T>G (p.Leu508Ter)
c.1430T>G (p.Leu477Ter)
c.1682T>G (p.Leu561Ter)
c.1331T>G (p.Leu444Ter)
1g.155291851A>GCA342751040PKLRc.1523T>C (p.Leu508Ser)
c.1430T>C (p.Leu477Ser)
c.1682T>C (p.Leu561Ser)
c.1331T>C (p.Leu444Ser)
1g.155291851A>TCA342751041PKLRc.1523T>A (p.Leu508Ter)
c.1430T>A (p.Leu477Ter)
c.1682T>A (p.Leu561Ter)
c.1331T>A (p.Leu444Ter)
 gnomAD v4
1g.155291852A>CCA342751054PKLRc.1522T>G (p.Leu508Val)
c.1429T>G (p.Leu477Val)
c.1681T>G (p.Leu561Val)
c.1330T>G (p.Leu444Val)
1g.155291852A>GCA421020177PKLRc.1522T>C (p.Leu508=)
c.1429T>C (p.Leu477=)
c.1681T>C (p.Leu561=)
c.1330T>C (p.Leu444=)
1g.155291852A>TCA342751058PKLRc.1522T>A (p.Leu508Ile)
c.1429T>A (p.Leu477Ile)
c.1681T>A (p.Leu561Ile)
c.1330T>A (p.Leu444Ile)
1g.155291853G>ACA1143972PKLRc.1521C>T (p.His507=)
c.1428C>T (p.His476=)
c.1680C>T (p.His560=)
c.1329C>T (p.His443=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291853G>CCA342751062PKLRc.1521C>G (p.His507Gln)
c.1428C>G (p.His476Gln)
c.1680C>G (p.His560Gln)
c.1329C>G (p.His443Gln)
 gnomAD v4
1g.155291853G=CA1143455084PKLRc.1521C= (p.His507=)
c.1428C= (p.His476=)
c.1680C= (p.His560=)
c.1329C= (p.His443=)
1g.155291853G>TCA342751068PKLRc.1521C>A (p.His507Gln)
c.1428C>A (p.His476Gln)
c.1680C>A (p.His560Gln)
c.1329C>A (p.His443Gln)
1g.155291854T>ACA342751075PKLRc.1520A>T (p.His507Leu)
c.1427A>T (p.His476Leu)
c.1679A>T (p.His560Leu)
c.1328A>T (p.His443Leu)
1g.155291854T>CCA342751077PKLRc.1520A>G (p.His507Arg)
c.1427A>G (p.His476Arg)
c.1679A>G (p.His560Arg)
c.1328A>G (p.His443Arg)
1g.155291854T>GCA342751083PKLRc.1520A>C (p.His507Pro)
c.1427A>C (p.His476Pro)
c.1679A>C (p.His560Pro)
c.1328A>C (p.His443Pro)
1g.155291855G>ACA342751088PKLRc.1519C>T (p.His507Tyr)
c.1426C>T (p.His476Tyr)
c.1678C>T (p.His560Tyr)
c.1327C>T (p.His443Tyr)
 gnomAD v4
1g.155291855G>CCA342751089PKLRc.1519C>G (p.His507Asp)
c.1426C>G (p.His476Asp)
c.1678C>G (p.His560Asp)
c.1327C>G (p.His443Asp)
1g.155291855G=CA2481225417PKLRc.1519C= (p.His507=)
c.1426C= (p.His476=)
c.1678C= (p.His560=)
c.1327C= (p.His443=)
1g.155291855G>TCA1143973PKLRc.1519C>A (p.His507Asn)
c.1426C>A (p.His476Asn)
c.1678C>A (p.His560Asn)
c.1327C>A (p.His443Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291856G>ACA1143974PKLRc.1518C>T (p.Val506=)
c.1425C>T (p.Val475=)
c.1677C>T (p.Val559=)
c.1326C>T (p.Val442=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291856G>CCA421020178PKLRc.1518C>G (p.Val506=)
c.1425C>G (p.Val475=)
c.1677C>G (p.Val559=)
c.1326C>G (p.Val442=)
1g.155291856G=CA1144102829PKLRc.1518C= (p.Val506=)
c.1425C= (p.Val475=)
c.1677C= (p.Val559=)
c.1326C= (p.Val442=)
1g.155291856G>TCA421020179PKLRc.1518C>A (p.Val506=)
c.1425C>A (p.Val475=)
c.1677C>A (p.Val559=)
c.1326C>A (p.Val442=)
1g.155291856_155291859dupCA2586967520PKLRc.1515_1518dup (p.His507GlyfsTer14)
c.1422_1425dup (p.His476GlyfsTer14)
c.1674_1677dup (p.His560GlyfsTer14)
c.1323_1326dup (p.His443GlyfsTer14)
1g.155291857A=CA2481225418PKLRc.1517T= (p.Val506=)
c.1424T= (p.Val475=)
c.1676T= (p.Val559=)
c.1325T= (p.Val442=)
1g.155291857A>CCA342751092PKLRc.1517T>G (p.Val506Gly)
c.1424T>G (p.Val475Gly)
c.1676T>G (p.Val559Gly)
c.1325T>G (p.Val442Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.155291857A>GCA342751093PKLRc.1517T>C (p.Val506Ala)
c.1424T>C (p.Val475Ala)
c.1676T>C (p.Val559Ala)
c.1325T>C (p.Val442Ala)
1g.155291857A>TCA342751094PKLRc.1517T>A (p.Val506Asp)
c.1424T>A (p.Val475Asp)
c.1676T>A (p.Val559Asp)
c.1325T>A (p.Val442Asp)
1g.155291858C>ACA342751097PKLRc.1516G>T (p.Val506Phe)
c.1423G>T (p.Val475Phe)
c.1675G>T (p.Val559Phe)
c.1324G>T (p.Val442Phe)
 gnomAD v4
1g.155291858C=CA1140163004PKLRc.1516G= (p.Val506=)
c.1423G= (p.Val475=)
c.1675G= (p.Val559=)
c.1324G= (p.Val442=)
1g.155291858C>GCA342751099PKLRc.1516G>C (p.Val506Leu)
c.1423G>C (p.Val475Leu)
c.1675G>C (p.Val559Leu)
c.1324G>C (p.Val442Leu)
1g.155291858C>TCA1143975PKLRc.1516G>A (p.Val506Ile)
c.1423G>A (p.Val475Ile)
c.1675G>A (p.Val559Ile)
c.1324G>A (p.Val442Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291859C>ACA342751105PKLRc.1515G>T (p.Gln505His)
c.1422G>T (p.Gln474His)
c.1674G>T (p.Gln558His)
c.1323G>T (p.Gln441His)
1g.155291859C>GCA342751106PKLRc.1515G>C (p.Gln505His)
c.1422G>C (p.Gln474His)
c.1674G>C (p.Gln558His)
c.1323G>C (p.Gln441His)
1g.155291859C>TCA421020180PKLRc.1515G>A (p.Gln505=)
c.1422G>A (p.Gln474=)
c.1674G>A (p.Gln558=)
c.1323G>A (p.Gln441=)
 gnomAD v4
1g.155291860T>ACA342751108PKLRc.1514A>T (p.Gln505Leu)
c.1421A>T (p.Gln474Leu)
c.1673A>T (p.Gln558Leu)
c.1322A>T (p.Gln441Leu)
1g.155291860T>CCA342751111PKLRc.1514A>G (p.Gln505Arg)
c.1421A>G (p.Gln474Arg)
c.1673A>G (p.Gln558Arg)
c.1322A>G (p.Gln441Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155291860T>GCA342751110PKLRc.1514A>C (p.Gln505Pro)
c.1421A>C (p.Gln474Pro)
c.1673A>C (p.Gln558Pro)
c.1322A>C (p.Gln441Pro)
1g.155291860T=CA2481225419PKLRc.1514A= (p.Gln505=)
c.1421A= (p.Gln474=)
c.1673A= (p.Gln558=)
c.1322A= (p.Gln441=)
1g.155291861G>ACA342751112PKLRc.1513C>T (p.Gln505Ter)
c.1420C>T (p.Gln474Ter)
c.1672C>T (p.Gln558Ter)
c.1321C>T (p.Gln441Ter)
1g.155291861G>CCA342751114PKLRc.1513C>G (p.Gln505Glu)
c.1420C>G (p.Gln474Glu)
c.1672C>G (p.Gln558Glu)
c.1321C>G (p.Gln441Glu)
 gnomAD v4
1g.155291861G>TCA342751113PKLRc.1513C>A (p.Gln505Lys)
c.1420C>A (p.Gln474Lys)
c.1672C>A (p.Gln558Lys)
c.1321C>A (p.Gln441Lys)
1g.155291862G>ACA421020181PKLRc.1512C>T (p.Arg504=)
c.1419C>T (p.Arg473=)
c.1671C>T (p.Arg557=)
c.1320C>T (p.Arg440=)
1g.155291862G>CCA421020182PKLRc.1512C>G (p.Arg504=)
c.1419C>G (p.Arg473=)
c.1671C>G (p.Arg557=)
c.1320C>G (p.Arg440=)
1g.155291862G=CA2481225420PKLRc.1512C= (p.Arg504=)
c.1419C= (p.Arg473=)
c.1671C= (p.Arg557=)
c.1320C= (p.Arg440=)
1g.155291862G>TCA1143976PKLRc.1512C>A (p.Arg504=)
c.1419C>A (p.Arg473=)
c.1671C>A (p.Arg557=)
c.1320C>A (p.Arg440=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291863C>ACA1143977PKLRc.1511G>T (p.Arg504Leu)
c.1418G>T (p.Arg473Leu)
c.1670G>T (p.Arg557Leu)
c.1319G>T (p.Arg440Leu)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.155291863C=CA1142796816PKLRc.1511G= (p.Arg504=)
c.1418G= (p.Arg473=)
c.1670G= (p.Arg557=)
c.1319G= (p.Arg440=)
1g.155291863C>GCA342751118PKLRc.1511G>C (p.Arg504Pro)
c.1418G>C (p.Arg473Pro)
c.1670G>C (p.Arg557Pro)
c.1319G>C (p.Arg440Pro)
1g.155291863C>TCA342751122PKLRc.1511G>A (p.Arg504His)
c.1418G>A (p.Arg473His)
c.1670G>A (p.Arg557His)
c.1319G>A (p.Arg440His)
 ClinVar dbSNP gnomAD v4
1g.155291864G>ACA30900305PKLRc.1510C>T (p.Arg504Cys)
c.1417C>T (p.Arg473Cys)
c.1669C>T (p.Arg557Cys)
c.1318C>T (p.Arg440Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291864G>CCA342751124PKLRc.1510C>G (p.Arg504Gly)
c.1417C>G (p.Arg473Gly)
c.1669C>G (p.Arg557Gly)
c.1318C>G (p.Arg440Gly)
1g.155291864G=CA2481225421PKLRc.1510C= (p.Arg504=)
c.1417C= (p.Arg473=)
c.1669C= (p.Arg557=)
c.1318C= (p.Arg440=)
1g.155291864G>TCA342751125PKLRc.1510C>A (p.Arg504Ser)
c.1417C>A (p.Arg473Ser)
c.1669C>A (p.Arg557Ser)
c.1318C>A (p.Arg440Ser)
1g.155291865G>ACA421020183PKLRc.1509C>T (p.Ala503=)
c.1416C>T (p.Ala472=)
c.1668C>T (p.Ala556=)
c.1317C>T (p.Ala439=)
1g.155291865G>CCA421020184PKLRc.1509C>G (p.Ala503=)
c.1416C>G (p.Ala472=)
c.1668C>G (p.Ala556=)
c.1317C>G (p.Ala439=)
1g.155291865G>TCA421020185PKLRc.1509C>A (p.Ala503=)
c.1416C>A (p.Ala472=)
c.1668C>A (p.Ala556=)
c.1317C>A (p.Ala439=)
1g.155291866G>ACA1143978PKLRc.1508C>T (p.Ala503Val)
c.1415C>T (p.Ala472Val)
c.1667C>T (p.Ala556Val)
c.1316C>T (p.Ala439Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291866G>CCA342751132PKLRc.1508C>G (p.Ala503Gly)
c.1415C>G (p.Ala472Gly)
c.1667C>G (p.Ala556Gly)
c.1316C>G (p.Ala439Gly)
1g.155291866G=CA2481225422PKLRc.1508C= (p.Ala503=)
c.1415C= (p.Ala472=)
c.1667C= (p.Ala556=)
c.1316C= (p.Ala439=)
1g.155291866G>TCA342751127PKLRc.1508C>A (p.Ala503Asp)
c.1415C>A (p.Ala472Asp)
c.1667C>A (p.Ala556Asp)
c.1316C>A (p.Ala439Asp)
1g.155291867C>ACA342751139PKLRc.1507G>T (p.Ala503Ser)
c.1414G>T (p.Ala472Ser)
c.1666G>T (p.Ala556Ser)
c.1315G>T (p.Ala439Ser)
1g.155291867C=CA2481225423PKLRc.1507G= (p.Ala503=)
c.1414G= (p.Ala472=)
c.1666G= (p.Ala556=)
c.1315G= (p.Ala439=)
1g.155291867C>GCA342751140PKLRc.1507G>C (p.Ala503Pro)
c.1414G>C (p.Ala472Pro)
c.1666G>C (p.Ala556Pro)
c.1315G>C (p.Ala439Pro)
1g.155291867C>TCA342751144PKLRc.1507G>A (p.Ala503Thr)
c.1414G>A (p.Ala472Thr)
c.1666G>A (p.Ala556Thr)
c.1315G>A (p.Ala439Thr)
 dbSNP gnomAD v2
1g.155291871_155291891delCA2648267826PKLRc.1487_1507del (p.Val496_Ala502del)
c.1394_1414del (p.Val465_Ala471del)
c.1646_1666del (p.Val549_Ala555del)
c.1295_1315del (p.Val432_Ala438del)
 gnomAD v4
1g.155291868A>CCA421020186PKLRc.1506T>G (p.Ala502=)
c.1413T>G (p.Ala471=)
c.1665T>G (p.Ala555=)
c.1314T>G (p.Ala438=)
1g.155291868A>GCA421020187PKLRc.1506T>C (p.Ala502=)
c.1413T>C (p.Ala471=)
c.1665T>C (p.Ala555=)
c.1314T>C (p.Ala438=)
1g.155291868A>TCA421020188PKLRc.1506T>A (p.Ala502=)
c.1413T>A (p.Ala471=)
c.1665T>A (p.Ala555=)
c.1314T>A (p.Ala438=)
1g.155291869G>ACA342751148PKLRc.1505C>T (p.Ala502Val)
c.1412C>T (p.Ala471Val)
c.1664C>T (p.Ala555Val)
c.1313C>T (p.Ala438Val)
1g.155291869G>CCA342751152PKLRc.1505C>G (p.Ala502Gly)
c.1412C>G (p.Ala471Gly)
c.1664C>G (p.Ala555Gly)
c.1313C>G (p.Ala438Gly)
1g.155291869G>TCA342751154PKLRc.1505C>A (p.Ala502Asp)
c.1412C>A (p.Ala471Asp)
c.1664C>A (p.Ala555Asp)
c.1313C>A (p.Ala438Asp)
1g.155291870C>ACA342751158PKLRc.1504G>T (p.Ala502Ser)
c.1411G>T (p.Ala471Ser)
c.1663G>T (p.Ala555Ser)
c.1312G>T (p.Ala438Ser)
1g.155291870C>GCA342751165PKLRc.1504G>C (p.Ala502Pro)
c.1411G>C (p.Ala471Pro)
c.1663G>C (p.Ala555Pro)
c.1312G>C (p.Ala438Pro)
1g.155291870C>TCA342751162PKLRc.1504G>A (p.Ala502Thr)
c.1411G>A (p.Ala471Thr)
c.1663G>A (p.Ala555Thr)
c.1312G>A (p.Ala438Thr)
1g.155291871C>ACA342751169PKLRc.1503G>T (p.Gln501His)
c.1410G>T (p.Gln470His)
c.1662G>T (p.Gln554His)
c.1311G>T (p.Gln437His)
1g.155291871C>GCA342751180PKLRc.1503G>C (p.Gln501His)
c.1410G>C (p.Gln470His)
c.1662G>C (p.Gln554His)
c.1311G>C (p.Gln437His)
1g.155291871C>TCA421020189PKLRc.1503G>A (p.Gln501=)
c.1410G>A (p.Gln470=)
c.1662G>A (p.Gln554=)
c.1311G>A (p.Gln437=)
1g.155291872T>ACA342751184PKLRc.1502A>T (p.Gln501Leu)
c.1409A>T (p.Gln470Leu)
c.1661A>T (p.Gln554Leu)
c.1310A>T (p.Gln437Leu)
1g.155291872T>CCA342751185PKLRc.1502A>G (p.Gln501Arg)
c.1409A>G (p.Gln470Arg)
c.1661A>G (p.Gln554Arg)
c.1310A>G (p.Gln437Arg)
1g.155291872T>GCA342751186PKLRc.1502A>C (p.Gln501Pro)
c.1409A>C (p.Gln470Pro)
c.1661A>C (p.Gln554Pro)
c.1310A>C (p.Gln437Pro)
1g.155291873G>ACA342751189PKLRc.1501C>T (p.Gln501Ter)
c.1408C>T (p.Gln470Ter)
c.1660C>T (p.Gln554Ter)
c.1309C>T (p.Gln437Ter)
1g.155291873G>CCA342751191PKLRc.1501C>G (p.Gln501Glu)
c.1408C>G (p.Gln470Glu)
c.1660C>G (p.Gln554Glu)
c.1309C>G (p.Gln437Glu)
1g.155291873G>TCA342751194PKLRc.1501C>A (p.Gln501Lys)
c.1408C>A (p.Gln470Lys)
c.1660C>A (p.Gln554Lys)
c.1309C>A (p.Gln437Lys)
1g.155291874G>ACA421020192PKLRc.1500C>T (p.Ala500=)
c.1407C>T (p.Ala469=)
c.1659C>T (p.Ala553=)
c.1308C>T (p.Ala436=)
 gnomAD v4
1g.155291874G>CCA421020190PKLRc.1500C>G (p.Ala500=)
c.1407C>G (p.Ala469=)
c.1659C>G (p.Ala553=)
c.1308C>G (p.Ala436=)
 gnomAD v4
1g.155291874G>TCA421020191PKLRc.1500C>A (p.Ala500=)
c.1407C>A (p.Ala469=)
c.1659C>A (p.Ala553=)
c.1308C>A (p.Ala436=)
1g.155291875G>ACA342751196PKLRc.1499C>T (p.Ala500Val)
c.1406C>T (p.Ala469Val)
c.1658C>T (p.Ala553Val)
c.1307C>T (p.Ala436Val)
1g.155291875G>CCA342751197PKLRc.1499C>G (p.Ala500Gly)
c.1406C>G (p.Ala469Gly)
c.1658C>G (p.Ala553Gly)
c.1307C>G (p.Ala436Gly)
1g.155291875G>TCA342751200PKLRc.1499C>A (p.Ala500Asp)
c.1406C>A (p.Ala469Asp)
c.1658C>A (p.Ala553Asp)
c.1307C>A (p.Ala436Asp)
1g.155291876C>ACA342751203PKLRc.1498G>T (p.Ala500Ser)
c.1405G>T (p.Ala469Ser)
c.1657G>T (p.Ala553Ser)
c.1306G>T (p.Ala436Ser)
1g.155291876C>GCA342751206PKLRc.1498G>C (p.Ala500Pro)
c.1405G>C (p.Ala469Pro)
c.1657G>C (p.Ala553Pro)
c.1306G>C (p.Ala436Pro)
1g.155291876C>TCA342751205PKLRc.1498G>A (p.Ala500Thr)
c.1405G>A (p.Ala469Thr)
c.1657G>A (p.Ala553Thr)
c.1306G>A (p.Ala436Thr)
 gnomAD v4
1g.155291877A>CCA421020193PKLRc.1497T>G (p.Ser499=)
c.1404T>G (p.Ser468=)
c.1656T>G (p.Ser552=)
c.1305T>G (p.Ser435=)
1g.155291877A>GCA421020195PKLRc.1497T>C (p.Ser499=)
c.1404T>C (p.Ser468=)
c.1656T>C (p.Ser552=)
c.1305T>C (p.Ser435=)
1g.155291877A>TCA421020194PKLRc.1497T>A (p.Ser499=)
c.1404T>A (p.Ser468=)
c.1656T>A (p.Ser552=)
c.1305T>A (p.Ser435=)
1g.155291878G>ACA342751209PKLRc.1496C>T (p.Ser499Phe)
c.1403C>T (p.Ser468Phe)
c.1655C>T (p.Ser552Phe)
c.1304C>T (p.Ser435Phe)
 COSMIC
1g.155291878G>CCA342751210PKLRc.1496C>G (p.Ser499Cys)
c.1403C>G (p.Ser468Cys)
c.1655C>G (p.Ser552Cys)
c.1304C>G (p.Ser435Cys)
1g.155291878G>TCA342751212PKLRc.1496C>A (p.Ser499Tyr)
c.1403C>A (p.Ser468Tyr)
c.1655C>A (p.Ser552Tyr)
c.1304C>A (p.Ser435Tyr)
1g.155291879A>CCA342751213PKLRc.1495T>G (p.Ser499Ala)
c.1402T>G (p.Ser468Ala)
c.1654T>G (p.Ser552Ala)
c.1303T>G (p.Ser435Ala)
1g.155291879A>GCA342751214PKLRc.1495T>C (p.Ser499Pro)
c.1402T>C (p.Ser468Pro)
c.1654T>C (p.Ser552Pro)
c.1303T>C (p.Ser435Pro)
1g.155291879A>TCA342751216PKLRc.1495T>A (p.Ser499Thr)
c.1402T>A (p.Ser468Thr)
c.1654T>A (p.Ser552Thr)
c.1303T>A (p.Ser435Thr)
1g.155291880G>ACA421020196PKLRc.1494C>T (p.Arg498=)
c.1401C>T (p.Arg467=)
c.1653C>T (p.Arg551=)
c.1302C>T (p.Arg434=)
 dbSNP gnomAD v2 gnomAD v4
1g.155291880G>CCA421020197PKLRc.1494C>G (p.Arg498=)
c.1401C>G (p.Arg467=)
c.1653C>G (p.Arg551=)
c.1302C>G (p.Arg434=)
1g.155291880G=CA2481225424PKLRc.1494C= (p.Arg498=)
c.1401C= (p.Arg467=)
c.1653C= (p.Arg551=)
c.1302C= (p.Arg434=)
1g.155291880G>TCA421020198PKLRc.1494C>A (p.Arg498=)
c.1401C>A (p.Arg467=)
c.1653C>A (p.Arg551=)
c.1302C>A (p.Arg434=)
1g.155291881C>ACA342751218PKLRc.1493G>T (p.Arg498Leu)
c.1400G>T (p.Arg467Leu)
c.1652G>T (p.Arg551Leu)
c.1301G>T (p.Arg434Leu)
1g.155291881C=CA2481225425PKLRc.1493G= (p.Arg498=)
c.1400G= (p.Arg467=)
c.1652G= (p.Arg551=)
c.1301G= (p.Arg434=)
1g.155291881C>GCA342751219PKLRc.1493G>C (p.Arg498Pro)
c.1400G>C (p.Arg467Pro)
c.1652G>C (p.Arg551Pro)
c.1301G>C (p.Arg434Pro)
1g.155291881C>TCA1143979PKLRc.1493G>A (p.Arg498His)
c.1400G>A (p.Arg467His)
c.1652G>A (p.Arg551His)
c.1301G>A (p.Arg434His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291882G>ACA1143981PKLRc.1492C>T (p.Arg498Cys)
c.1399C>T (p.Arg467Cys)
c.1651C>T (p.Arg551Cys)
c.1300C>T (p.Arg434Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291882G>CCA342751223PKLRc.1492C>G (p.Arg498Gly)
c.1399C>G (p.Arg467Gly)
c.1651C>G (p.Arg551Gly)
c.1300C>G (p.Arg434Gly)
1g.155291882G=CA1146112422PKLRc.1492C= (p.Arg498=)
c.1399C= (p.Arg467=)
c.1651C= (p.Arg551=)
c.1300C= (p.Arg434=)
1g.155291882G>TCA1143980PKLRc.1492C>A (p.Arg498Ser)
c.1399C>A (p.Arg467Ser)
c.1651C>A (p.Arg551Ser)
c.1300C>A (p.Arg434Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291883G>ACA1143982PKLRc.1491C>T (p.Thr497=)
c.1398C>T (p.Thr466=)
c.1650C>T (p.Thr550=)
c.1299C>T (p.Thr433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291883G>CCA421020199PKLRc.1491C>G (p.Thr497=)
c.1398C>G (p.Thr466=)
c.1650C>G (p.Thr550=)
c.1299C>G (p.Thr433=)
1g.155291883G=CA2481225426PKLRc.1491C= (p.Thr497=)
c.1398C= (p.Thr466=)
c.1650C= (p.Thr550=)
c.1299C= (p.Thr433=)
1g.155291883G>TCA421020200PKLRc.1491C>A (p.Thr497=)
c.1398C>A (p.Thr466=)
c.1650C>A (p.Thr550=)
c.1299C>A (p.Thr433=)
1g.155291884G>ACA342751228PKLRc.1490C>T (p.Thr497Ile)
c.1397C>T (p.Thr466Ile)
c.1649C>T (p.Thr550Ile)
c.1298C>T (p.Thr433Ile)
1g.155291884G>CCA342751230PKLRc.1490C>G (p.Thr497Ser)
c.1397C>G (p.Thr466Ser)
c.1649C>G (p.Thr550Ser)
c.1298C>G (p.Thr433Ser)
1g.155291884G=CA2481225427PKLRc.1490C= (p.Thr497=)
c.1397C= (p.Thr466=)
c.1649C= (p.Thr550=)
c.1298C= (p.Thr433=)
1g.155291884G>TCA342751232PKLRc.1490C>A (p.Thr497Asn)
c.1397C>A (p.Thr466Asn)
c.1649C>A (p.Thr550Asn)
c.1298C>A (p.Thr433Asn)
 dbSNP gnomAD v3 gnomAD v4
1g.155291885T>ACA342751233PKLRc.1489A>T (p.Thr497Ser)
c.1396A>T (p.Thr466Ser)
c.1648A>T (p.Thr550Ser)
c.1297A>T (p.Thr433Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.155291885T>CCA342751235PKLRc.1489A>G (p.Thr497Ala)
c.1396A>G (p.Thr466Ala)
c.1648A>G (p.Thr550Ala)
c.1297A>G (p.Thr433Ala)
1g.155291885T>GCA342751237PKLRc.1489A>C (p.Thr497Pro)
c.1396A>C (p.Thr466Pro)
c.1648A>C (p.Thr550Pro)
c.1297A>C (p.Thr433Pro)
1g.155291885T=CA2481225428PKLRc.1489A= (p.Thr497=)
c.1396A= (p.Thr466=)
c.1648A= (p.Thr550=)
c.1297A= (p.Thr433=)
1g.155291886delCA2586967521PKLRc.1488del (p.Thr497ProfsTer?)
c.1395del (p.Thr466ProfsTer?)
c.1647del (p.Thr550ProfsTer?)
c.1296del (p.Thr433ProfsTer?)
1g.155291886G>ACA421020201PKLRc.1488C>T (p.Val496=)
c.1395C>T (p.Val465=)
c.1647C>T (p.Val549=)
c.1296C>T (p.Val432=)
 dbSNP gnomAD v4
1g.155291886G>CCA421020202PKLRc.1488C>G (p.Val496=)
c.1395C>G (p.Val465=)
c.1647C>G (p.Val549=)
c.1296C>G (p.Val432=)
1g.155291886G=CA2481225429PKLRc.1488C= (p.Val496=)
c.1395C= (p.Val465=)
c.1647C= (p.Val549=)
c.1296C= (p.Val432=)
1g.155291886G>TCA421020203PKLRc.1488C>A (p.Val496=)
c.1395C>A (p.Val465=)
c.1647C>A (p.Val549=)
c.1296C>A (p.Val432=)
1g.155291887A>CCA342751240PKLRc.1487T>G (p.Val496Gly)
c.1394T>G (p.Val465Gly)
c.1646T>G (p.Val549Gly)
c.1295T>G (p.Val432Gly)
1g.155291887A>GCA342751241PKLRc.1487T>C (p.Val496Ala)
c.1394T>C (p.Val465Ala)
c.1646T>C (p.Val549Ala)
c.1295T>C (p.Val432Ala)
1g.155291887A>TCA342751242PKLRc.1487T>A (p.Val496Asp)
c.1394T>A (p.Val465Asp)
c.1646T>A (p.Val549Asp)
c.1295T>A (p.Val432Asp)
1g.155291888C>ACA342751245PKLRc.1486G>T (p.Val496Phe)
c.1393G>T (p.Val465Phe)
c.1645G>T (p.Val549Phe)
c.1294G>T (p.Val432Phe)
1g.155291888C>GCA342751246PKLRc.1486G>C (p.Val496Leu)
c.1393G>C (p.Val465Leu)
c.1645G>C (p.Val549Leu)
c.1294G>C (p.Val432Leu)
1g.155291888C>TCA342751247PKLRc.1486G>A (p.Val496Ile)
c.1393G>A (p.Val465Ile)
c.1645G>A (p.Val549Ile)
c.1294G>A (p.Val432Ile)
1g.155291889A>CCA421020204PKLRc.1485T>G (p.Ala495=)
c.1392T>G (p.Ala464=)
c.1644T>G (p.Ala548=)
c.1293T>G (p.Ala431=)
1g.155291889A>GCA421020205PKLRc.1485T>C (p.Ala495=)
c.1392T>C (p.Ala464=)
c.1644T>C (p.Ala548=)
c.1293T>C (p.Ala431=)
1g.155291889A>TCA421020206PKLRc.1485T>A (p.Ala495=)
c.1392T>A (p.Ala464=)
c.1644T>A (p.Ala548=)
c.1293T>A (p.Ala431=)
1g.155291890G>ACA1143983PKLRc.1484C>T (p.Ala495Val)
c.1391C>T (p.Ala464Val)
c.1643C>T (p.Ala548Val)
c.1292C>T (p.Ala431Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291890G>CCA342751251PKLRc.1484C>G (p.Ala495Gly)
c.1391C>G (p.Ala464Gly)
c.1643C>G (p.Ala548Gly)
c.1292C>G (p.Ala431Gly)
1g.155291890G=CA1141812539PKLRc.1484C= (p.Ala495=)
c.1391C= (p.Ala464=)
c.1643C= (p.Ala548=)
c.1292C= (p.Ala431=)
1g.155291890G>TCA342751249PKLRc.1484C>A (p.Ala495Asp)
c.1391C>A (p.Ala464Asp)
c.1643C>A (p.Ala548Asp)
c.1292C>A (p.Ala431Asp)
1g.155291891C>ACA342751256PKLRc.1483G>T (p.Ala495Ser)
c.1390G>T (p.Ala464Ser)
c.1642G>T (p.Ala548Ser)
c.1291G>T (p.Ala431Ser)
 gnomAD v4
1g.155291891C>GCA342751253PKLRc.1483G>C (p.Ala495Pro)
c.1390G>C (p.Ala464Pro)
c.1642G>C (p.Ala548Pro)
c.1291G>C (p.Ala431Pro)
1g.155291891C>TCA342751255PKLRc.1483G>A (p.Ala495Thr)
c.1390G>A (p.Ala464Thr)
c.1642G>A (p.Ala548Thr)
c.1291G>A (p.Ala431Thr)
 ClinVar gnomAD v4
1g.155291892A>CCA342751258PKLRc.1482T>G (p.Ile494Met)
c.1389T>G (p.Ile463Met)
c.1641T>G (p.Ile547Met)
c.1290T>G (p.Ile430Met)
1g.155291892A>GCA421020208PKLRc.1482T>C (p.Ile494=)
c.1389T>C (p.Ile463=)
c.1641T>C (p.Ile547=)
c.1290T>C (p.Ile430=)
1g.155291892A>TCA421020207PKLRc.1482T>A (p.Ile494=)
c.1389T>A (p.Ile463=)
c.1641T>A (p.Ile547=)
c.1290T>A (p.Ile430=)
1g.155291893A=CA2481225430PKLRc.1481T= (p.Ile494=)
c.1388T= (p.Ile463=)
c.1640T= (p.Ile547=)
c.1289T= (p.Ile430=)
1g.155291893A>CCA342751261PKLRc.1481T>G (p.Ile494Ser)
c.1388T>G (p.Ile463Ser)
c.1640T>G (p.Ile547Ser)
c.1289T>G (p.Ile430Ser)
1g.155291893A>GCA342751262PKLRc.1481T>C (p.Ile494Thr)
c.1388T>C (p.Ile463Thr)
c.1640T>C (p.Ile547Thr)
c.1289T>C (p.Ile430Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291893A>TCA342751264PKLRc.1481T>A (p.Ile494Asn)
c.1388T>A (p.Ile463Asn)
c.1640T>A (p.Ile547Asn)
c.1289T>A (p.Ile430Asn)
1g.155291894T>ACA342751267PKLRc.1480A>T (p.Ile494Phe)
c.1387A>T (p.Ile463Phe)
c.1639A>T (p.Ile547Phe)
c.1288A>T (p.Ile430Phe)
1g.155291894T>CCA342751268PKLRc.1480A>G (p.Ile494Val)
c.1387A>G (p.Ile463Val)
c.1639A>G (p.Ile547Val)
c.1288A>G (p.Ile430Val)
1g.155291894T>GCA342751270PKLRc.1480A>C (p.Ile494Leu)
c.1387A>C (p.Ile463Leu)
c.1639A>C (p.Ile547Leu)
c.1288A>C (p.Ile430Leu)
1g.155291895G>ACA421020209PKLRc.1479C>T (p.Val493=)
c.1386C>T (p.Val462=)
c.1638C>T (p.Val546=)
c.1287C>T (p.Val429=)
1g.155291895G>CCA421020211PKLRc.1479C>G (p.Val493=)
c.1386C>G (p.Val462=)
c.1638C>G (p.Val546=)
c.1287C>G (p.Val429=)
1g.155291895G>TCA421020210PKLRc.1479C>A (p.Val493=)
c.1386C>A (p.Val462=)
c.1638C>A (p.Val546=)
c.1287C>A (p.Val429=)
1g.155291896A=CA1149119385PKLRc.1478T= (p.Val493=)
c.1385T= (p.Val462=)
c.1637T= (p.Val546=)
c.1286T= (p.Val429=)
1g.155291896A>CCA342751273PKLRc.1478T>G (p.Val493Gly)
c.1385T>G (p.Val462Gly)
c.1637T>G (p.Val546Gly)
c.1286T>G (p.Val429Gly)
1g.155291896A>GCA342751274PKLRc.1478T>C (p.Val493Ala)
c.1385T>C (p.Val462Ala)
c.1637T>C (p.Val546Ala)
c.1286T>C (p.Val429Ala)
1g.155291896A>TCA1143984PKLRc.1478T>A (p.Val493Asp)
c.1385T>A (p.Val462Asp)
c.1637T>A (p.Val546Asp)
c.1286T>A (p.Val429Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291897C>ACA342751282PKLRc.1477G>T (p.Val493Phe)
c.1384G>T (p.Val462Phe)
c.1636G>T (p.Val546Phe)
c.1285G>T (p.Val429Phe)
1g.155291897C=CA2481225431PKLRc.1477G= (p.Val493=)
c.1384G= (p.Val462=)
c.1636G= (p.Val546=)
c.1285G= (p.Val429=)
1g.155291897C>GCA342751278PKLRc.1477G>C (p.Val493Leu)
c.1384G>C (p.Val462Leu)
c.1636G>C (p.Val546Leu)
c.1285G>C (p.Val429Leu)
1g.155291897C>TCA342751280PKLRc.1477G>A (p.Val493Ile)
c.1384G>A (p.Val462Ile)
c.1636G>A (p.Val546Ile)
c.1285G>A (p.Val429Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291898T>ACA1143986PKLRc.1476A>T (p.Ala492=)
c.1383A>T (p.Ala461=)
c.1635A>T (p.Ala545=)
c.1284A>T (p.Ala428=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291898T>CCA1143985PKLRc.1476A>G (p.Ala492=)
c.1383A>G (p.Ala461=)
c.1635A>G (p.Ala545=)
c.1284A>G (p.Ala428=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291898T>GCA421020212PKLRc.1476A>C (p.Ala492=)
c.1383A>C (p.Ala461=)
c.1635A>C (p.Ala545=)
c.1284A>C (p.Ala428=)
1g.155291898T=CA2481225432PKLRc.1476A= (p.Ala492=)
c.1383A= (p.Ala461=)
c.1635A= (p.Ala545=)
c.1284A= (p.Ala428=)
1g.155291899G>ACA342751286PKLRc.1475C>T (p.Ala492Val)
c.1382C>T (p.Ala461Val)
c.1634C>T (p.Ala545Val)
c.1283C>T (p.Ala428Val)
1g.155291899G>CCA342751287PKLRc.1475C>G (p.Ala492Gly)
c.1382C>G (p.Ala461Gly)
c.1634C>G (p.Ala545Gly)
c.1283C>G (p.Ala428Gly)
1g.155291899G=CA2481225433PKLRc.1475C= (p.Ala492=)
c.1382C= (p.Ala461=)
c.1634C= (p.Ala545=)
c.1283C= (p.Ala428=)
1g.155291899G>TCA342751289PKLRc.1475C>A (p.Ala492Glu)
c.1382C>A (p.Ala461Glu)
c.1634C>A (p.Ala545Glu)
c.1283C>A (p.Ala428Glu)
 dbSNP gnomAD v4
1g.155291900C>ACA342751292PKLRc.1474G>T (p.Ala492Ser)
c.1381G>T (p.Ala461Ser)
c.1633G>T (p.Ala545Ser)
c.1282G>T (p.Ala428Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.155291900C=CA2481225434PKLRc.1474G= (p.Ala492=)
c.1381G= (p.Ala461=)
c.1633G= (p.Ala545=)
c.1282G= (p.Ala428=)
1g.155291900C>GCA342751293PKLRc.1474G>C (p.Ala492Pro)
c.1381G>C (p.Ala461Pro)
c.1633G>C (p.Ala545Pro)
c.1282G>C (p.Ala428Pro)
1g.155291900C>TCA342751295PKLRc.1474G>A (p.Ala492Thr)
c.1381G>A (p.Ala461Thr)
c.1633G>A (p.Ala545Thr)
c.1282G>A (p.Ala428Thr)
1g.155291901T>ACA421020213PKLRc.1473A>T (p.Ala491=)
c.1380A>T (p.Ala460=)
c.1632A>T (p.Ala544=)
c.1281A>T (p.Ala427=)
1g.155291901T>CCA421020214PKLRc.1473A>G (p.Ala491=)
c.1380A>G (p.Ala460=)
c.1632A>G (p.Ala544=)
c.1281A>G (p.Ala427=)
1g.155291901T>GCA421020215PKLRc.1473A>C (p.Ala491=)
c.1380A>C (p.Ala460=)
c.1632A>C (p.Ala544=)
c.1281A>C (p.Ala427=)
1g.155291902G>ACA342751298PKLRc.1472C>T (p.Ala491Val)
c.1379C>T (p.Ala460Val)
c.1631C>T (p.Ala544Val)
c.1280C>T (p.Ala427Val)
1g.155291902G>CCA342751299PKLRc.1472C>G (p.Ala491Gly)
c.1379C>G (p.Ala460Gly)
c.1631C>G (p.Ala544Gly)
c.1280C>G (p.Ala427Gly)
1g.155291902G>TCA342751301PKLRc.1472C>A (p.Ala491Glu)
c.1379C>A (p.Ala460Glu)
c.1631C>A (p.Ala544Glu)
c.1280C>A (p.Ala427Glu)
1g.155291903C>ACA342751306PKLRc.1471G>T (p.Ala491Ser)
c.1378G>T (p.Ala460Ser)
c.1630G>T (p.Ala544Ser)
c.1279G>T (p.Ala427Ser)
1g.155291903C>GCA342751308PKLRc.1471G>C (p.Ala491Pro)
c.1378G>C (p.Ala460Pro)
c.1630G>C (p.Ala544Pro)
c.1279G>C (p.Ala427Pro)
1g.155291903C>TCA342751304PKLRc.1471G>A (p.Ala491Thr)
c.1378G>A (p.Ala460Thr)
c.1630G>A (p.Ala544Thr)
c.1279G>A (p.Ala427Thr)
1g.155291904C>ACA421020216PKLRc.1470G>T (p.Arg490=)
c.1377G>T (p.Arg459=)
c.1629G>T (p.Arg543=)
c.1278G>T (p.Arg426=)
1g.155291904C>GCA421020217PKLRc.1470G>C (p.Arg490=)
c.1377G>C (p.Arg459=)
c.1629G>C (p.Arg543=)
c.1278G>C (p.Arg426=)
1g.155291904C>TCA421020218PKLRc.1470G>A (p.Arg490=)
c.1377G>A (p.Arg459=)
c.1629G>A (p.Arg543=)
c.1278G>A (p.Arg426=)
1g.155291905C>ACA1143988PKLRc.1469G>T (p.Arg490Leu)
c.1376G>T (p.Arg459Leu)
c.1628G>T (p.Arg543Leu)
c.1277G>T (p.Arg426Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291905C=CA1148297382PKLRc.1469G= (p.Arg490=)
c.1376G= (p.Arg459=)
c.1628G= (p.Arg543=)
c.1277G= (p.Arg426=)
1g.155291905C>GCA342751311PKLRc.1469G>C (p.Arg490Pro)
c.1376G>C (p.Arg459Pro)
c.1628G>C (p.Arg543Pro)
c.1277G>C (p.Arg426Pro)
1g.155291905C>TCA1143987PKLRc.1469G>A (p.Arg490Gln)
c.1376G>A (p.Arg459Gln)
c.1628G>A (p.Arg543Gln)
c.1277G>A (p.Arg426Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291906G>ACA1143989PKLRc.1468C>T (p.Arg490Trp)
c.1375C>T (p.Arg459Trp)
c.1627C>T (p.Arg543Trp)
c.1276C>T (p.Arg426Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291906G>CCA342751315PKLRc.1468C>G (p.Arg490Gly)
c.1375C>G (p.Arg459Gly)
c.1627C>G (p.Arg543Gly)
c.1276C>G (p.Arg426Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291906G=CA1143397580PKLRc.1468C= (p.Arg490=)
c.1375C= (p.Arg459=)
c.1627C= (p.Arg543=)
c.1276C= (p.Arg426=)
1g.155291906G>TCA421020220PKLRc.1468C>A (p.Arg490=)
c.1375C>A (p.Arg459=)
c.1627C>A (p.Arg543=)
c.1276C>A (p.Arg426=)
1g.155291907A>CCA421020221PKLRc.1467T>G (p.Pro489=)
c.1374T>G (p.Pro458=)
c.1626T>G (p.Pro542=)
c.1275T>G (p.Pro425=)
1g.155291907A>GCA421020222PKLRc.1467T>C (p.Pro489=)
c.1374T>C (p.Pro458=)
c.1626T>C (p.Pro542=)
c.1275T>C (p.Pro425=)
 gnomAD v4
1g.155291907A>TCA421020223PKLRc.1467T>A (p.Pro489=)
c.1374T>A (p.Pro458=)
c.1626T>A (p.Pro542=)
c.1275T>A (p.Pro425=)
1g.155291908G>ACA342751319PKLRc.1466C>T (p.Pro489Leu)
c.1373C>T (p.Pro458Leu)
c.1625C>T (p.Pro542Leu)
c.1274C>T (p.Pro425Leu)
1g.155291908G>CCA342751320PKLRc.1466C>G (p.Pro489Arg)
c.1373C>G (p.Pro458Arg)
c.1625C>G (p.Pro542Arg)
c.1274C>G (p.Pro425Arg)
1g.155291908G>TCA342751322PKLRc.1466C>A (p.Pro489His)
c.1373C>A (p.Pro458His)
c.1625C>A (p.Pro542His)
c.1274C>A (p.Pro425His)
 gnomAD v4
1g.155291909G>ACA342751325PKLRc.1465C>T (p.Pro489Ser)
c.1372C>T (p.Pro458Ser)
c.1624C>T (p.Pro542Ser)
c.1273C>T (p.Pro425Ser)
 gnomAD v4
1g.155291909G>CCA342751326PKLRc.1465C>G (p.Pro489Ala)
c.1372C>G (p.Pro458Ala)
c.1624C>G (p.Pro542Ala)
c.1273C>G (p.Pro425Ala)
1g.155291909G>TCA342751328PKLRc.1465C>A (p.Pro489Thr)
c.1372C>A (p.Pro458Thr)
c.1624C>A (p.Pro542Thr)
c.1273C>A (p.Pro425Thr)
1g.155291910T>ACA421020225PKLRc.1464A>T (p.Arg488=)
c.1371A>T (p.Arg457=)
c.1623A>T (p.Arg541=)
c.1272A>T (p.Arg424=)
1g.155291910T>CCA421020226PKLRc.1464A>G (p.Arg488=)
c.1371A>G (p.Arg457=)
c.1623A>G (p.Arg541=)
c.1272A>G (p.Arg424=)
1g.155291910T>GCA421020227PKLRc.1464A>C (p.Arg488=)
c.1371A>C (p.Arg457=)
c.1623A>C (p.Arg541=)
c.1272A>C (p.Arg424=)
1g.155291911C>ACA342751330PKLRc.1463G>T (p.Arg488Leu)
c.1370G>T (p.Arg457Leu)
c.1622G>T (p.Arg541Leu)
c.1271G>T (p.Arg424Leu)
1g.155291911C=CA1143647237PKLRc.1463G= (p.Arg488=)
c.1370G= (p.Arg457=)
c.1622G= (p.Arg541=)
c.1271G= (p.Arg424=)
1g.155291911C>GCA342751332PKLRc.1463G>C (p.Arg488Pro)
c.1370G>C (p.Arg457Pro)
c.1622G>C (p.Arg541Pro)
c.1271G>C (p.Arg424Pro)
1g.155291911C>TCA1143990PKLRc.1463G>A (p.Arg488Gln)
c.1370G>A (p.Arg457Gln)
c.1622G>A (p.Arg541Gln)
c.1271G>A (p.Arg424Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291912G>ACA30900356PKLRc.1462C>T (p.Arg488Ter)
c.1369C>T (p.Arg457Ter)
c.1621C>T (p.Arg541Ter)
c.1270C>T (p.Arg424Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291912G>CCA342751336PKLRc.1462C>G (p.Arg488Gly)
c.1369C>G (p.Arg457Gly)
c.1621C>G (p.Arg541Gly)
c.1270C>G (p.Arg424Gly)
1g.155291912G=CA2481225435PKLRc.1462C= (p.Arg488=)
c.1369C= (p.Arg457=)
c.1621C= (p.Arg541=)
c.1270C= (p.Arg424=)
1g.155291912G>TCA421020231PKLRc.1462C>A (p.Arg488=)
c.1369C>A (p.Arg457=)
c.1621C>A (p.Arg541=)
c.1270C>A (p.Arg424=)
1g.155291913G>ACA421020232PKLRc.1461C>T (p.Tyr487=)
c.1368C>T (p.Tyr456=)
c.1620C>T (p.Tyr540=)
c.1269C>T (p.Tyr423=)
1g.155291913G>CCA342751339PKLRc.1461C>G (p.Tyr487Ter)
c.1368C>G (p.Tyr456Ter)
c.1620C>G (p.Tyr540Ter)
c.1269C>G (p.Tyr423Ter)
1g.155291913G>TCA342751341PKLRc.1461C>A (p.Tyr487Ter)
c.1368C>A (p.Tyr456Ter)
c.1620C>A (p.Tyr540Ter)
c.1269C>A (p.Tyr423Ter)
1g.155291914delCA2746210388PKLRc.1460del (p.Tyr487SerfsTer?)
c.1367del (p.Tyr456SerfsTer?)
c.1619del (p.Tyr540SerfsTer?)
c.1268del (p.Tyr423SerfsTer?)
1g.155291914T>ACA342751343PKLRc.1460A>T (p.Tyr487Phe)
c.1367A>T (p.Tyr456Phe)
c.1619A>T (p.Tyr540Phe)
c.1268A>T (p.Tyr423Phe)
1g.155291914T>CCA342751345PKLRc.1460A>G (p.Tyr487Cys)
c.1367A>G (p.Tyr456Cys)
c.1619A>G (p.Tyr540Cys)
c.1268A>G (p.Tyr423Cys)
1g.155291914T>GCA342751347PKLRc.1460A>C (p.Tyr487Ser)
c.1367A>C (p.Tyr456Ser)
c.1619A>C (p.Tyr540Ser)
c.1268A>C (p.Tyr423Ser)
1g.155291915A>CCA342751350PKLRc.1459T>G (p.Tyr487Asp)
c.1366T>G (p.Tyr456Asp)
c.1618T>G (p.Tyr540Asp)
c.1267T>G (p.Tyr423Asp)
1g.155291915A>GCA342751352PKLRc.1459T>C (p.Tyr487His)
c.1366T>C (p.Tyr456His)
c.1618T>C (p.Tyr540His)
c.1267T>C (p.Tyr423His)
1g.155291915A>TCA342751353PKLRc.1459T>A (p.Tyr487Asn)
c.1366T>A (p.Tyr456Asn)
c.1618T>A (p.Tyr540Asn)
c.1267T>A (p.Tyr423Asn)
1g.155291916C>ACA30900367PKLRc.1458G>T (p.Arg486=)
c.1365G>T (p.Arg455=)
c.1617G>T (p.Arg539=)
c.1266G>T (p.Arg422=)
 dbSNP gnomAD v3 gnomAD v4
1g.155291916C=CA2481225436PKLRc.1458G= (p.Arg486=)
c.1365G= (p.Arg455=)
c.1617G= (p.Arg539=)
c.1266G= (p.Arg422=)
1g.155291916C>GCA421020237PKLRc.1458G>C (p.Arg486=)
c.1365G>C (p.Arg455=)
c.1617G>C (p.Arg539=)
c.1266G>C (p.Arg422=)
1g.155291916C>TCA421020236PKLRc.1458G>A (p.Arg486=)
c.1365G>A (p.Arg455=)
c.1617G>A (p.Arg539=)
c.1266G>A (p.Arg422=)
 dbSNP gnomAD v2
1g.155291917C>ACA342751356PKLRc.1457G>T (p.Arg486Leu)
c.1364G>T (p.Arg455Leu)
c.1616G>T (p.Arg539Leu)
c.1265G>T (p.Arg422Leu)
1g.155291917C=CA2481225437PKLRc.1457G= (p.Arg486=)
c.1364G= (p.Arg455=)
c.1616G= (p.Arg539=)
c.1265G= (p.Arg422=)
1g.155291917C>GCA342751358PKLRc.1457G>C (p.Arg486Pro)
c.1364G>C (p.Arg455Pro)
c.1616G>C (p.Arg539Pro)
c.1265G>C (p.Arg422Pro)
1g.155291917C>TCA1143991PKLRc.1457G>A (p.Arg486Gln)
c.1364G>A (p.Arg455Gln)
c.1616G>A (p.Arg539Gln)
c.1265G>A (p.Arg422Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291918G>ACA215080PKLRc.1456C>T (p.Arg486Trp)
c.1363C>T (p.Arg455Trp)
c.1615C>T (p.Arg539Trp)
c.1264C>T (p.Arg422Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291918G>CCA342751361PKLRc.1456C>G (p.Arg486Gly)
c.1363C>G (p.Arg455Gly)
c.1615C>G (p.Arg539Gly)
c.1264C>G (p.Arg422Gly)
1g.155291918G=CA1141509128PKLRc.1456C= (p.Arg486=)
c.1363C= (p.Arg455=)
c.1615C= (p.Arg539=)
c.1264C= (p.Arg422=)
1g.155291918G>TCA421020239PKLRc.1456C>A (p.Arg486=)
c.1363C>A (p.Arg455=)
c.1615C>A (p.Arg539=)
c.1264C>A (p.Arg422=)

Number of alleles fetched