Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155291767C>ACA342750267PKLRc.1607G>T (p.Gly536Val)
c.1514G>T (p.Gly505Val)
c.1766G>T (p.Gly589Val)
c.1415G>T (p.Gly472Val)
 ClinVar dbSNP
1g.155291767C=CA2481225389PKLRc.1607G= (p.Gly536=)
c.1514G= (p.Gly505=)
c.1766G= (p.Gly589=)
c.1415G= (p.Gly472=)
1g.155291767C>GCA342750261PKLRc.1607G>C (p.Gly536Ala)
c.1514G>C (p.Gly505Ala)
c.1766G>C (p.Gly589Ala)
c.1415G>C (p.Gly472Ala)
1g.155291767C>TCA342750264PKLRc.1607G>A (p.Gly536Asp)
c.1514G>A (p.Gly505Asp)
c.1766G>A (p.Gly589Asp)
c.1415G>A (p.Gly472Asp)
1g.155291768C>ACA342750271PKLRc.1606G>T (p.Gly536Cys)
c.1513G>T (p.Gly505Cys)
c.1765G>T (p.Gly589Cys)
c.1414G>T (p.Gly472Cys)
1g.155291768C>GCA342750276PKLRc.1606G>C (p.Gly536Arg)
c.1513G>C (p.Gly505Arg)
c.1765G>C (p.Gly589Arg)
c.1414G>C (p.Gly472Arg)
1g.155291768C>TCA342750280PKLRc.1606G>A (p.Gly536Ser)
c.1513G>A (p.Gly505Ser)
c.1765G>A (p.Gly589Ser)
c.1414G>A (p.Gly472Ser)
1g.155291769A>CCA342750285PKLRc.1605T>G (p.Phe535Leu)
c.1512T>G (p.Phe504Leu)
c.1764T>G (p.Phe588Leu)
c.1413T>G (p.Phe471Leu)
1g.155291769A>GCA421020100PKLRc.1605T>C (p.Phe535=)
c.1512T>C (p.Phe504=)
c.1764T>C (p.Phe588=)
c.1413T>C (p.Phe471=)
1g.155291769A>TCA342750287PKLRc.1605T>A (p.Phe535Leu)
c.1512T>A (p.Phe504Leu)
c.1764T>A (p.Phe588Leu)
c.1413T>A (p.Phe471Leu)
1g.155291770A=CA2481225390PKLRc.1604T= (p.Phe535=)
c.1511T= (p.Phe504=)
c.1763T= (p.Phe588=)
c.1412T= (p.Phe471=)
1g.155291770A>CCA342750291PKLRc.1604T>G (p.Phe535Cys)
c.1511T>G (p.Phe504Cys)
c.1763T>G (p.Phe588Cys)
c.1412T>G (p.Phe471Cys)
1g.155291770A>GCA30900212PKLRc.1604T>C (p.Phe535Ser)
c.1511T>C (p.Phe504Ser)
c.1763T>C (p.Phe588Ser)
c.1412T>C (p.Phe471Ser)
 dbSNP gnomAD v4
1g.155291770A>TCA342750296PKLRc.1604T>A (p.Phe535Tyr)
c.1511T>A (p.Phe504Tyr)
c.1763T>A (p.Phe588Tyr)
c.1412T>A (p.Phe471Tyr)
1g.155291771A=CA2481225391PKLRc.1603T= (p.Phe535=)
c.1510T= (p.Phe504=)
c.1762T= (p.Phe588=)
c.1411T= (p.Phe471=)
1g.155291771A>CCA342750299PKLRc.1603T>G (p.Phe535Val)
c.1510T>G (p.Phe504Val)
c.1762T>G (p.Phe588Val)
c.1411T>G (p.Phe471Val)
1g.155291771A>GCA342750302PKLRc.1603T>C (p.Phe535Leu)
c.1510T>C (p.Phe504Leu)
c.1762T>C (p.Phe588Leu)
c.1411T>C (p.Phe471Leu)
 ClinVar gnomAD v4
1g.155291771A>TCA342750304PKLRc.1603T>A (p.Phe535Ile)
c.1510T>A (p.Phe504Ile)
c.1762T>A (p.Phe588Ile)
c.1411T>A (p.Phe471Ile)
 dbSNP
1g.155291772T>ACA342750335PKLRc.1602A>T (p.Gln534His)
c.1509A>T (p.Gln503His)
c.1761A>T (p.Gln587His)
c.1410A>T (p.Gln470His)
1g.155291772T>CCA421020116PKLRc.1602A>G (p.Gln534=)
c.1509A>G (p.Gln503=)
c.1761A>G (p.Gln587=)
c.1410A>G (p.Gln470=)
 gnomAD v4
1g.155291772T>GCA342750323PKLRc.1602A>C (p.Gln534His)
c.1509A>C (p.Gln503His)
c.1761A>C (p.Gln587His)
c.1410A>C (p.Gln470His)
 gnomAD v4
1g.155291773T>ACA342750339PKLRc.1601A>T (p.Gln534Leu)
c.1508A>T (p.Gln503Leu)
c.1760A>T (p.Gln587Leu)
c.1409A>T (p.Gln470Leu)
1g.155291773T>CCA342750342PKLRc.1601A>G (p.Gln534Arg)
c.1508A>G (p.Gln503Arg)
c.1760A>G (p.Gln587Arg)
c.1409A>G (p.Gln470Arg)
 gnomAD v4
1g.155291773T>GCA342750345PKLRc.1601A>C (p.Gln534Pro)
c.1508A>C (p.Gln503Pro)
c.1760A>C (p.Gln587Pro)
c.1409A>C (p.Gln470Pro)
1g.155291774G>ACA342750349PKLRc.1600C>T (p.Gln534Ter)
c.1507C>T (p.Gln503Ter)
c.1759C>T (p.Gln587Ter)
c.1408C>T (p.Gln470Ter)
1g.155291774G>CCA342750352PKLRc.1600C>G (p.Gln534Glu)
c.1507C>G (p.Gln503Glu)
c.1759C>G (p.Gln587Glu)
c.1408C>G (p.Gln470Glu)
1g.155291774G>TCA342750354PKLRc.1600C>A (p.Gln534Lys)
c.1507C>A (p.Gln503Lys)
c.1759C>A (p.Gln587Lys)
c.1408C>A (p.Gln470Lys)
 gnomAD v4
1g.155291775C>ACA1143961PKLRc.1599G>T (p.Val533=)
c.1506G>T (p.Val502=)
c.1758G>T (p.Val586=)
c.1407G>T (p.Val469=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291775C=CA1143310564PKLRc.1599G= (p.Val533=)
c.1506G= (p.Val502=)
c.1758G= (p.Val586=)
c.1407G= (p.Val469=)
1g.155291775C>GCA421020123PKLRc.1599G>C (p.Val533=)
c.1506G>C (p.Val502=)
c.1758G>C (p.Val586=)
c.1407G>C (p.Val469=)
1g.155291775C>TCA421020124PKLRc.1599G>A (p.Val533=)
c.1506G>A (p.Val502=)
c.1758G>A (p.Val586=)
c.1407G>A (p.Val469=)
 dbSNP gnomAD v4
1g.155291776A>CCA342750365PKLRc.1598T>G (p.Val533Gly)
c.1505T>G (p.Val502Gly)
c.1757T>G (p.Val586Gly)
c.1406T>G (p.Val469Gly)
1g.155291776A>GCA342750374PKLRc.1598T>C (p.Val533Ala)
c.1505T>C (p.Val502Ala)
c.1757T>C (p.Val586Ala)
c.1406T>C (p.Val469Ala)
1g.155291776A>TCA342750375PKLRc.1598T>A (p.Val533Glu)
c.1505T>A (p.Val502Glu)
c.1757T>A (p.Val586Glu)
c.1406T>A (p.Val469Glu)
1g.155291777C>ACA342750380PKLRc.1597G>T (p.Val533Leu)
c.1504G>T (p.Val502Leu)
c.1756G>T (p.Val586Leu)
c.1405G>T (p.Val469Leu)
1g.155291777C>GCA342750382PKLRc.1597G>C (p.Val533Leu)
c.1504G>C (p.Val502Leu)
c.1756G>C (p.Val586Leu)
c.1405G>C (p.Val469Leu)
1g.155291777C>TCA342750385PKLRc.1597G>A (p.Val533Met)
c.1504G>A (p.Val502Met)
c.1756G>A (p.Val586Met)
c.1405G>A (p.Val469Met)
1g.155291778C>ACA421020125PKLRc.1596G>T (p.Arg532=)
c.1503G>T (p.Arg501=)
c.1755G>T (p.Arg585=)
c.1404G>T (p.Arg468=)
1g.155291778C=CA2481225392PKLRc.1596G= (p.Arg532=)
c.1503G= (p.Arg501=)
c.1755G= (p.Arg585=)
c.1404G= (p.Arg468=)
1g.155291778C>GCA1143962PKLRc.1596G>C (p.Arg532=)
c.1503G>C (p.Arg501=)
c.1755G>C (p.Arg585=)
c.1404G>C (p.Arg468=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291778C>TCA421020126PKLRc.1596G>A (p.Arg532=)
c.1503G>A (p.Arg501=)
c.1755G>A (p.Arg585=)
c.1404G>A (p.Arg468=)
1g.155291779C>ACA342750401PKLRc.1595G>T (p.Arg532Leu)
c.1502G>T (p.Arg501Leu)
c.1754G>T (p.Arg585Leu)
c.1403G>T (p.Arg468Leu)
1g.155291779C=CA2481225393PKLRc.1595G= (p.Arg532=)
c.1502G= (p.Arg501=)
c.1754G= (p.Arg585=)
c.1403G= (p.Arg468=)
1g.155291779C>GCA342750396PKLRc.1595G>C (p.Arg532Pro)
c.1502G>C (p.Arg501Pro)
c.1754G>C (p.Arg585Pro)
c.1403G>C (p.Arg468Pro)
 ClinVar dbSNP
1g.155291779C>TCA1143963PKLRc.1595G>A (p.Arg532Gln)
c.1502G>A (p.Arg501Gln)
c.1754G>A (p.Arg585Gln)
c.1403G>A (p.Arg468Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291780G>ACA1143964PKLRc.1594C>T (p.Arg532Trp)
c.1501C>T (p.Arg501Trp)
c.1753C>T (p.Arg585Trp)
c.1402C>T (p.Arg468Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291780G>CCA342750412PKLRc.1594C>G (p.Arg532Gly)
c.1501C>G (p.Arg501Gly)
c.1753C>G (p.Arg585Gly)
c.1402C>G (p.Arg468Gly)
 dbSNP
1g.155291780G=CA1143470967PKLRc.1594C= (p.Arg532=)
c.1501C= (p.Arg501=)
c.1753C= (p.Arg585=)
c.1402C= (p.Arg468=)
1g.155291780G>TCA421020127PKLRc.1594C>A (p.Arg532=)
c.1501C>A (p.Arg501=)
c.1753C>A (p.Arg585=)
c.1402C>A (p.Arg468=)
 gnomAD v4
1g.155291782_155291813dupCA2648267675PKLRc.1563_1594dup (p.Arg532GlnfsTer9)
c.1470_1501dup (p.Arg501GlnfsTer9)
c.1722_1753dup (p.Arg585GlnfsTer9)
c.1371_1402dup (p.Arg468GlnfsTer9)
 gnomAD v4
1g.155291781G>ACA421020130PKLRc.1593C>T (p.Arg531=)
c.1500C>T (p.Arg500=)
c.1752C>T (p.Arg584=)
c.1401C>T (p.Arg467=)
1g.155291781G>CCA421020128PKLRc.1593C>G (p.Arg531=)
c.1500C>G (p.Arg500=)
c.1752C>G (p.Arg584=)
c.1401C>G (p.Arg467=)
1g.155291781G=CA2481225394PKLRc.1593C= (p.Arg531=)
c.1500C= (p.Arg500=)
c.1752C= (p.Arg584=)
c.1401C= (p.Arg467=)
1g.155291781G>TCA421020129PKLRc.1593C>A (p.Arg531=)
c.1500C>A (p.Arg500=)
c.1752C>A (p.Arg584=)
c.1401C>A (p.Arg467=)
 dbSNP gnomAD v4
1g.155291782C>ACA342750414PKLRc.1592G>T (p.Arg531Leu)
c.1499G>T (p.Arg500Leu)
c.1751G>T (p.Arg584Leu)
c.1400G>T (p.Arg467Leu)
1g.155291782C=CA2481225395PKLRc.1592G= (p.Arg531=)
c.1499G= (p.Arg500=)
c.1751G= (p.Arg584=)
c.1400G= (p.Arg467=)
1g.155291782C>GCA342750419PKLRc.1592G>C (p.Arg531Pro)
c.1499G>C (p.Arg500Pro)
c.1751G>C (p.Arg584Pro)
c.1400G>C (p.Arg467Pro)
1g.155291782C>TCA30900234PKLRc.1592G>A (p.Arg531His)
c.1499G>A (p.Arg500His)
c.1751G>A (p.Arg584His)
c.1400G>A (p.Arg467His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155291783G>ACA342750424PKLRc.1591C>T (p.Arg531Cys)
c.1498C>T (p.Arg500Cys)
c.1750C>T (p.Arg584Cys)
c.1399C>T (p.Arg467Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.155291783G>CCA342750425PKLRc.1591C>G (p.Arg531Gly)
c.1498C>G (p.Arg500Gly)
c.1750C>G (p.Arg584Gly)
c.1399C>G (p.Arg467Gly)
1g.155291783G=CA2481225396PKLRc.1591C= (p.Arg531=)
c.1498C= (p.Arg500=)
c.1750C= (p.Arg584=)
c.1399C= (p.Arg467=)
1g.155291783G>TCA342750426PKLRc.1591C>A (p.Arg531Ser)
c.1498C>A (p.Arg500Ser)
c.1750C>A (p.Arg584Ser)
c.1399C>A (p.Arg467Ser)
 ClinVar dbSNP
1g.155291784A>CCA342750427PKLRc.1590T>G (p.Asp530Glu)
c.1497T>G (p.Asp499Glu)
c.1749T>G (p.Asp583Glu)
c.1398T>G (p.Asp466Glu)
1g.155291784A>GCA421020131PKLRc.1590T>C (p.Asp530=)
c.1497T>C (p.Asp499=)
c.1749T>C (p.Asp583=)
c.1398T>C (p.Asp466=)
1g.155291784A>TCA342750428PKLRc.1590T>A (p.Asp530Glu)
c.1497T>A (p.Asp499Glu)
c.1749T>A (p.Asp583Glu)
c.1398T>A (p.Asp466Glu)
1g.155291785T>ACA342750432PKLRc.1589A>T (p.Asp530Val)
c.1496A>T (p.Asp499Val)
c.1748A>T (p.Asp583Val)
c.1397A>T (p.Asp466Val)
1g.155291785T>CCA342750438PKLRc.1589A>G (p.Asp530Gly)
c.1496A>G (p.Asp499Gly)
c.1748A>G (p.Asp583Gly)
c.1397A>G (p.Asp466Gly)
1g.155291785T>GCA342750440PKLRc.1589A>C (p.Asp530Ala)
c.1496A>C (p.Asp499Ala)
c.1748A>C (p.Asp583Ala)
c.1397A>C (p.Asp466Ala)
1g.155291786C>ACA342750450PKLRc.1588G>T (p.Asp530Tyr)
c.1495G>T (p.Asp499Tyr)
c.1747G>T (p.Asp583Tyr)
c.1396G>T (p.Asp466Tyr)
1g.155291786C>GCA342750445PKLRc.1588G>C (p.Asp530His)
c.1495G>C (p.Asp499His)
c.1747G>C (p.Asp583His)
c.1396G>C (p.Asp466His)
1g.155291786C>TCA342750447PKLRc.1588G>A (p.Asp530Asn)
c.1495G>A (p.Asp499Asn)
c.1747G>A (p.Asp583Asn)
c.1396G>A (p.Asp466Asn)
 gnomAD v4
1g.155291787T>ACA421020132PKLRc.1587A>T (p.Val529=)
c.1494A>T (p.Val498=)
c.1746A>T (p.Val582=)
c.1395A>T (p.Val465=)
1g.155291787T>CCA421020133PKLRc.1587A>G (p.Val529=)
c.1494A>G (p.Val498=)
c.1746A>G (p.Val582=)
c.1395A>G (p.Val465=)
1g.155291787T>GCA421020134PKLRc.1587A>C (p.Val529=)
c.1494A>C (p.Val498=)
c.1746A>C (p.Val582=)
c.1395A>C (p.Val465=)
 gnomAD v4
1g.155291788A>CCA342750455PKLRc.1586T>G (p.Val529Gly)
c.1493T>G (p.Val498Gly)
c.1745T>G (p.Val582Gly)
c.1394T>G (p.Val465Gly)
1g.155291788A>GCA342750457PKLRc.1586T>C (p.Val529Ala)
c.1493T>C (p.Val498Ala)
c.1745T>C (p.Val582Ala)
c.1394T>C (p.Val465Ala)
 gnomAD v4
1g.155291788A>TCA342750461PKLRc.1586T>A (p.Val529Glu)
c.1493T>A (p.Val498Glu)
c.1745T>A (p.Val582Glu)
c.1394T>A (p.Val465Glu)
1g.155291789C>ACA342750469PKLRc.1585G>T (p.Val529Leu)
c.1492G>T (p.Val498Leu)
c.1744G>T (p.Val582Leu)
c.1393G>T (p.Val465Leu)
1g.155291789C=CA2481225397PKLRc.1585G= (p.Val529=)
c.1492G= (p.Val498=)
c.1744G= (p.Val582=)
c.1393G= (p.Val465=)
1g.155291789C>GCA342750473PKLRc.1585G>C (p.Val529Leu)
c.1492G>C (p.Val498Leu)
c.1744G>C (p.Val582Leu)
c.1393G>C (p.Val465Leu)
1g.155291789C>TCA342750475PKLRc.1585G>A (p.Val529Ile)
c.1492G>A (p.Val498Ile)
c.1744G>A (p.Val582Ile)
c.1393G>A (p.Val465Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.155291790A>CCA342750480PKLRc.1584T>G (p.Asp528Glu)
c.1491T>G (p.Asp497Glu)
c.1743T>G (p.Asp581Glu)
c.1392T>G (p.Asp464Glu)
1g.155291790A>GCA421020135PKLRc.1584T>C (p.Asp528=)
c.1491T>C (p.Asp497=)
c.1743T>C (p.Asp581=)
c.1392T>C (p.Asp464=)
 gnomAD v4
1g.155291790A>TCA342750484PKLRc.1584T>A (p.Asp528Glu)
c.1491T>A (p.Asp497Glu)
c.1743T>A (p.Asp581Glu)
c.1392T>A (p.Asp464Glu)
1g.155291791T>ACA342750488PKLRc.1583A>T (p.Asp528Val)
c.1490A>T (p.Asp497Val)
c.1742A>T (p.Asp581Val)
c.1391A>T (p.Asp464Val)
1g.155291791T>CCA342750491PKLRc.1583A>G (p.Asp528Gly)
c.1490A>G (p.Asp497Gly)
c.1742A>G (p.Asp581Gly)
c.1391A>G (p.Asp464Gly)
1g.155291791T>GCA342750493PKLRc.1583A>C (p.Asp528Ala)
c.1490A>C (p.Asp497Ala)
c.1742A>C (p.Asp581Ala)
c.1391A>C (p.Asp464Ala)
1g.155291792C>ACA342750504PKLRc.1582G>T (p.Asp528Tyr)
c.1489G>T (p.Asp497Tyr)
c.1741G>T (p.Asp581Tyr)
c.1390G>T (p.Asp464Tyr)
 COSMIC
1g.155291792C>GCA342750501PKLRc.1582G>C (p.Asp528His)
c.1489G>C (p.Asp497His)
c.1741G>C (p.Asp581His)
c.1390G>C (p.Asp464His)
1g.155291792C>TCA342750496PKLRc.1582G>A (p.Asp528Asn)
c.1489G>A (p.Asp497Asn)
c.1741G>A (p.Asp581Asn)
c.1390G>A (p.Asp464Asn)
1g.155291793A=CA2481225398PKLRc.1581T= (p.Asp527=)
c.1488T= (p.Asp496=)
c.1740T= (p.Asp580=)
c.1389T= (p.Asp463=)
1g.155291793A>CCA342750509PKLRc.1581T>G (p.Asp527Glu)
c.1488T>G (p.Asp496Glu)
c.1740T>G (p.Asp580Glu)
c.1389T>G (p.Asp463Glu)
1g.155291793A>GCA421020136PKLRc.1581T>C (p.Asp527=)
c.1488T>C (p.Asp496=)
c.1740T>C (p.Asp580=)
c.1389T>C (p.Asp463=)
 dbSNP gnomAD v3 gnomAD v4
1g.155291793A>TCA342750514PKLRc.1581T>A (p.Asp527Glu)
c.1488T>A (p.Asp496Glu)
c.1740T>A (p.Asp580Glu)
c.1389T>A (p.Asp463Glu)
1g.155291794T>ACA342750519PKLRc.1580A>T (p.Asp527Val)
c.1487A>T (p.Asp496Val)
c.1739A>T (p.Asp580Val)
c.1388A>T (p.Asp463Val)
1g.155291794T>CCA342750522PKLRc.1580A>G (p.Asp527Gly)
c.1487A>G (p.Asp496Gly)
c.1739A>G (p.Asp580Gly)
c.1388A>G (p.Asp463Gly)
1g.155291794T>GCA342750528PKLRc.1580A>C (p.Asp527Ala)
c.1487A>C (p.Asp496Ala)
c.1739A>C (p.Asp580Ala)
c.1388A>C (p.Asp463Ala)
1g.155291795C>ACA342750552PKLRc.1579G>T (p.Asp527Tyr)
c.1486G>T (p.Asp496Tyr)
c.1738G>T (p.Asp580Tyr)
c.1387G>T (p.Asp463Tyr)
1g.155291795C=CA1148731904PKLRc.1579G= (p.Asp527=)
c.1486G= (p.Asp496=)
c.1738G= (p.Asp580=)
c.1387G= (p.Asp463=)
1g.155291795C>GCA342750551PKLRc.1579G>C (p.Asp527His)
c.1486G>C (p.Asp496His)
c.1738G>C (p.Asp580His)
c.1387G>C (p.Asp463His)
1g.155291795C>TCA1143965PKLRc.1579G>A (p.Asp527Asn)
c.1486G>A (p.Asp496Asn)
c.1738G>A (p.Asp580Asn)
c.1387G>A (p.Asp463Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155291796T>ACA421020137PKLRc.1578A>T (p.Ala526=)
c.1485A>T (p.Ala495=)
c.1737A>T (p.Ala579=)
c.1386A>T (p.Ala462=)
1g.155291796T>CCA421020138PKLRc.1578A>G (p.Ala526=)
c.1485A>G (p.Ala495=)
c.1737A>G (p.Ala579=)
c.1386A>G (p.Ala462=)
1g.155291796T>GCA421020139PKLRc.1578A>C (p.Ala526=)
c.1485A>C (p.Ala495=)
c.1737A>C (p.Ala579=)
c.1386A>C (p.Ala462=)
1g.155291797G>ACA342750556PKLRc.1577C>T (p.Ala526Val)
c.1484C>T (p.Ala495Val)
c.1736C>T (p.Ala579Val)
c.1385C>T (p.Ala462Val)
1g.155291797G>CCA342750562PKLRc.1577C>G (p.Ala526Gly)
c.1484C>G (p.Ala495Gly)
c.1736C>G (p.Ala579Gly)
c.1385C>G (p.Ala462Gly)
1g.155291797G>TCA342750565PKLRc.1577C>A (p.Ala526Glu)
c.1484C>A (p.Ala495Glu)
c.1736C>A (p.Ala579Glu)
c.1385C>A (p.Ala462Glu)
1g.155291797_155291798delinsGCCA2481225399PKLRc.1576_1577delinsGC (p.Ala526=)
c.1483_1484delinsGC (p.Ala495=)
c.1735_1736delinsGC (p.Ala579=)
c.1384_1385delinsGC (p.Ala462=)
1g.155291798C>ACA342750568PKLRc.1576G>T (p.Ala526Ser)
c.1483G>T (p.Ala495Ser)
c.1735G>T (p.Ala579Ser)
c.1384G>T (p.Ala462Ser)
1g.155291798C>GCA342750571PKLRc.1576G>C (p.Ala526Pro)
c.1483G>C (p.Ala495Pro)
c.1735G>C (p.Ala579Pro)
c.1384G>C (p.Ala462Pro)
1g.155291798C>TCA342750574PKLRc.1576G>A (p.Ala526Thr)
c.1483G>A (p.Ala495Thr)
c.1735G>A (p.Ala579Thr)
c.1384G>A (p.Ala462Thr)
1g.155291800dupCA2586967517PKLRc.1576dup (p.Ala526GlyfsTer3)
c.1483dup (p.Ala495GlyfsTer3)
c.1735dup (p.Ala579GlyfsTer3)
c.1384dup (p.Ala462GlyfsTer3)
1g.155291800delCA526668869PKLRc.1576del (p.Ala526GlnfsTer4)
c.1483del (p.Ala495GlnfsTer4)
c.1735del (p.Ala579GlnfsTer4)
c.1384del (p.Ala462GlnfsTer4)
 dbSNP gnomAD v2 gnomAD v4
1g.155291799C>ACA342750583PKLRc.1575G>T (p.Trp525Cys)
c.1482G>T (p.Trp494Cys)
c.1734G>T (p.Trp578Cys)
c.1383G>T (p.Trp461Cys)
 gnomAD v4
1g.155291799C>GCA342750589PKLRc.1575G>C (p.Trp525Cys)
c.1482G>C (p.Trp494Cys)
c.1734G>C (p.Trp578Cys)
c.1383G>C (p.Trp461Cys)
1g.155291799C>TCA342750585PKLRc.1575G>A (p.Trp525Ter)
c.1482G>A (p.Trp494Ter)
c.1734G>A (p.Trp578Ter)
c.1383G>A (p.Trp461Ter)
 ClinVar dbSNP
1g.155291800C>ACA342750594PKLRc.1574G>T (p.Trp525Leu)
c.1481G>T (p.Trp494Leu)
c.1733G>T (p.Trp578Leu)
c.1382G>T (p.Trp461Leu)
1g.155291800C>GCA342750597PKLRc.1574G>C (p.Trp525Ser)
c.1481G>C (p.Trp494Ser)
c.1733G>C (p.Trp578Ser)
c.1382G>C (p.Trp461Ser)
1g.155291800C>TCA342750603PKLRc.1574G>A (p.Trp525Ter)
c.1481G>A (p.Trp494Ter)
c.1733G>A (p.Trp578Ter)
c.1382G>A (p.Trp461Ter)
1g.155291800_155291801delinsCACA2481225400PKLRc.1573_1574delinsTG (p.Trp525=)
c.1480_1481delinsTG (p.Trp494=)
c.1732_1733delinsTG (p.Trp578=)
c.1381_1382delinsTG (p.Trp461=)
1g.155291801delCA526668870PKLRc.1573del (p.Trp525GlyfsTer5)
c.1480del (p.Trp494GlyfsTer5)
c.1732del (p.Trp578GlyfsTer5)
c.1381del (p.Trp461GlyfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291801A>CCA342750607PKLRc.1573T>G (p.Trp525Gly)
c.1480T>G (p.Trp494Gly)
c.1732T>G (p.Trp578Gly)
c.1381T>G (p.Trp461Gly)
1g.155291801A>GCA342750609PKLRc.1573T>C (p.Trp525Arg)
c.1480T>C (p.Trp494Arg)
c.1732T>C (p.Trp578Arg)
c.1381T>C (p.Trp461Arg)
1g.155291801A>TCA342750611PKLRc.1573T>A (p.Trp525Arg)
c.1480T>A (p.Trp494Arg)
c.1732T>A (p.Trp578Arg)
c.1381T>A (p.Trp461Arg)
1g.155291802G>ACA421020141PKLRc.1572C>T (p.Ile524=)
c.1479C>T (p.Ile493=)
c.1731C>T (p.Ile577=)
c.1380C>T (p.Ile460=)
 gnomAD v4
1g.155291802G>CCA342750615PKLRc.1572C>G (p.Ile524Met)
c.1479C>G (p.Ile493Met)
c.1731C>G (p.Ile577Met)
c.1380C>G (p.Ile460Met)
1g.155291802G>TCA421020140PKLRc.1572C>A (p.Ile524=)
c.1479C>A (p.Ile493=)
c.1731C>A (p.Ile577=)
c.1380C>A (p.Ile460=)
1g.155291803A=CA2481225401PKLRc.1571T= (p.Ile524=)
c.1478T= (p.Ile493=)
c.1730T= (p.Ile577=)
c.1379T= (p.Ile460=)
1g.155291803A>CCA342750620PKLRc.1571T>G (p.Ile524Ser)
c.1478T>G (p.Ile493Ser)
c.1730T>G (p.Ile577Ser)
c.1379T>G (p.Ile460Ser)
1g.155291803A>GCA342750623PKLRc.1571T>C (p.Ile524Thr)
c.1478T>C (p.Ile493Thr)
c.1730T>C (p.Ile577Thr)
c.1379T>C (p.Ile460Thr)
 dbSNP
1g.155291803A>TCA342750628PKLRc.1571T>A (p.Ile524Asn)
c.1478T>A (p.Ile493Asn)
c.1730T>A (p.Ile577Asn)
c.1379T>A (p.Ile460Asn)
1g.155291804T>ACA342750639PKLRc.1570A>T (p.Ile524Phe)
c.1477A>T (p.Ile493Phe)
c.1729A>T (p.Ile577Phe)
c.1378A>T (p.Ile460Phe)
 gnomAD v4
1g.155291804T>CCA342750637PKLRc.1570A>G (p.Ile524Val)
c.1477A>G (p.Ile493Val)
c.1729A>G (p.Ile577Val)
c.1378A>G (p.Ile460Val)
1g.155291804T>GCA342750633PKLRc.1570A>C (p.Ile524Leu)
c.1477A>C (p.Ile493Leu)
c.1729A>C (p.Ile577Leu)
c.1378A>C (p.Ile460Leu)
1g.155291805G>ACA421020142PKLRc.1569C>T (p.Ala523=)
c.1476C>T (p.Ala492=)
c.1728C>T (p.Ala576=)
c.1377C>T (p.Ala459=)
 gnomAD v4
1g.155291805G>CCA421020143PKLRc.1569C>G (p.Ala523=)
c.1476C>G (p.Ala492=)
c.1728C>G (p.Ala576=)
c.1377C>G (p.Ala459=)
1g.155291805G>TCA421020144PKLRc.1569C>A (p.Ala523=)
c.1476C>A (p.Ala492=)
c.1728C>A (p.Ala576=)
c.1377C>A (p.Ala459=)
1g.155291806G>ACA342750641PKLRc.1568C>T (p.Ala523Val)
c.1475C>T (p.Ala492Val)
c.1727C>T (p.Ala576Val)
c.1376C>T (p.Ala459Val)
1g.155291806G>CCA342750643PKLRc.1568C>G (p.Ala523Gly)
c.1475C>G (p.Ala492Gly)
c.1727C>G (p.Ala576Gly)
c.1376C>G (p.Ala459Gly)
1g.155291806G=CA2481225402PKLRc.1568C= (p.Ala523=)
c.1475C= (p.Ala492=)
c.1727C= (p.Ala576=)
c.1376C= (p.Ala459=)
1g.155291806G>TCA342750648PKLRc.1568C>A (p.Ala523Asp)
c.1475C>A (p.Ala492Asp)
c.1727C>A (p.Ala576Asp)
c.1376C>A (p.Ala459Asp)
 dbSNP
1g.155291807C>ACA342750649PKLRc.1567G>T (p.Ala523Ser)
c.1474G>T (p.Ala492Ser)
c.1726G>T (p.Ala576Ser)
c.1375G>T (p.Ala459Ser)
1g.155291807C>GCA342750651PKLRc.1567G>C (p.Ala523Pro)
c.1474G>C (p.Ala492Pro)
c.1726G>C (p.Ala576Pro)
c.1375G>C (p.Ala459Pro)
1g.155291807C>TCA342750659PKLRc.1567G>A (p.Ala523Thr)
c.1474G>A (p.Ala492Thr)
c.1726G>A (p.Ala576Thr)
c.1375G>A (p.Ala459Thr)
1g.155291808T>ACA342750662PKLRc.1566A>T (p.Glu522Asp)
c.1473A>T (p.Glu491Asp)
c.1725A>T (p.Glu575Asp)
c.1374A>T (p.Glu458Asp)
1g.155291808T>CCA421020146PKLRc.1566A>G (p.Glu522=)
c.1473A>G (p.Glu491=)
c.1725A>G (p.Glu575=)
c.1374A>G (p.Glu458=)
1g.155291808T>GCA342750666PKLRc.1566A>C (p.Glu522Asp)
c.1473A>C (p.Glu491Asp)
c.1725A>C (p.Glu575Asp)
c.1374A>C (p.Glu458Asp)
1g.155291809T>ACA342750669PKLRc.1565A>T (p.Glu522Val)
c.1472A>T (p.Glu491Val)
c.1724A>T (p.Glu575Val)
c.1373A>T (p.Glu458Val)
1g.155291809T>CCA342750678PKLRc.1565A>G (p.Glu522Gly)
c.1472A>G (p.Glu491Gly)
c.1724A>G (p.Glu575Gly)
c.1373A>G (p.Glu458Gly)
1g.155291809T>GCA342750680PKLRc.1565A>C (p.Glu522Ala)
c.1472A>C (p.Glu491Ala)
c.1724A>C (p.Glu575Ala)
c.1373A>C (p.Glu458Ala)
1g.155291810C>ACA342750689PKLRc.1564G>T (p.Glu522Ter)
c.1471G>T (p.Glu491Ter)
c.1723G>T (p.Glu575Ter)
c.1372G>T (p.Glu458Ter)
 COSMIC
1g.155291810C=CA2481225403PKLRc.1564G= (p.Glu522=)
c.1471G= (p.Glu491=)
c.1723G= (p.Glu575=)
c.1372G= (p.Glu458=)
1g.155291810C>GCA342750691PKLRc.1564G>C (p.Glu522Gln)
c.1471G>C (p.Glu491Gln)
c.1723G>C (p.Glu575Gln)
c.1372G>C (p.Glu458Gln)
1g.155291810C>TCA342750707PKLRc.1564G>A (p.Glu522Lys)
c.1471G>A (p.Glu491Lys)
c.1723G>A (p.Glu575Lys)
c.1372G>A (p.Glu458Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.155291811T>ACA421020147PKLRc.1563A>T (p.Pro521=)
c.1470A>T (p.Pro490=)
c.1722A>T (p.Pro574=)
c.1371A>T (p.Pro457=)
1g.155291811T>CCA421020148PKLRc.1563A>G (p.Pro521=)
c.1470A>G (p.Pro490=)
c.1722A>G (p.Pro574=)
c.1371A>G (p.Pro457=)
 gnomAD v4
1g.155291811T>GCA421020149PKLRc.1563A>C (p.Pro521=)
c.1470A>C (p.Pro490=)
c.1722A>C (p.Pro574=)
c.1371A>C (p.Pro457=)
1g.155291812G>ACA342750715PKLRc.1562C>T (p.Pro521Leu)
c.1469C>T (p.Pro490Leu)
c.1721C>T (p.Pro574Leu)
c.1370C>T (p.Pro457Leu)
1g.155291812G>CCA342750712PKLRc.1562C>G (p.Pro521Arg)
c.1469C>G (p.Pro490Arg)
c.1721C>G (p.Pro574Arg)
c.1370C>G (p.Pro457Arg)
1g.155291812G>TCA342750710PKLRc.1562C>A (p.Pro521Gln)
c.1469C>A (p.Pro490Gln)
c.1721C>A (p.Pro574Gln)
c.1370C>A (p.Pro457Gln)
1g.155291813G>ACA1143966PKLRc.1561C>T (p.Pro521Ser)
c.1468C>T (p.Pro490Ser)
c.1720C>T (p.Pro574Ser)
c.1369C>T (p.Pro457Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155291813G>CCA342750716PKLRc.1561C>G (p.Pro521Ala)
c.1468C>G (p.Pro490Ala)
c.1720C>G (p.Pro574Ala)
c.1369C>G (p.Pro457Ala)
1g.155291813G=CA2481225404PKLRc.1561C= (p.Pro521=)
c.1468C= (p.Pro490=)
c.1720C= (p.Pro574=)
c.1369C= (p.Pro457=)
1g.155291813G>TCA342750719PKLRc.1561C>A (p.Pro521Thr)
c.1468C>A (p.Pro490Thr)
c.1720C>A (p.Pro574Thr)
c.1369C>A (p.Pro457Thr)
1g.155291814A>CCA421020150PKLRc.1560T>G (p.Pro520=)
c.1467T>G (p.Pro489=)
c.1719T>G (p.Pro573=)
c.1368T>G (p.Pro456=)
1g.155291814A>GCA421020151PKLRc.1560T>C (p.Pro520=)
c.1467T>C (p.Pro489=)
c.1719T>C (p.Pro573=)
c.1368T>C (p.Pro456=)
1g.155291814A>TCA421020152PKLRc.1560T>A (p.Pro520=)
c.1467T>A (p.Pro489=)
c.1719T>A (p.Pro573=)
c.1368T>A (p.Pro456=)
1g.155291815G>ACA342750721PKLRc.1559C>T (p.Pro520Leu)
c.1466C>T (p.Pro489Leu)
c.1718C>T (p.Pro573Leu)
c.1367C>T (p.Pro456Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155291815G>CCA342750723PKLRc.1559C>G (p.Pro520Arg)
c.1466C>G (p.Pro489Arg)
c.1718C>G (p.Pro573Arg)
c.1367C>G (p.Pro456Arg)
 gnomAD v4
1g.155291815G=CA2481225405PKLRc.1559C= (p.Pro520=)
c.1466C= (p.Pro489=)
c.1718C= (p.Pro573=)
c.1367C= (p.Pro456=)
1g.155291815G>TCA342750726PKLRc.1559C>A (p.Pro520His)
c.1466C>A (p.Pro489His)
c.1718C>A (p.Pro573His)
c.1367C>A (p.Pro456His)
1g.155291816G>ACA30900238PKLRc.1558C>T (p.Pro520Ser)
c.1465C>T (p.Pro489Ser)
c.1717C>T (p.Pro573Ser)
c.1366C>T (p.Pro456Ser)
 dbSNP
1g.155291816G>CCA342750730PKLRc.1558C>G (p.Pro520Ala)
c.1465C>G (p.Pro489Ala)
c.1717C>G (p.Pro573Ala)
c.1366C>G (p.Pro456Ala)
1g.155291816G=CA1146906730PKLRc.1558C= (p.Pro520=)
c.1465C= (p.Pro489=)
c.1717C= (p.Pro573=)
c.1366C= (p.Pro456=)
1g.155291816G>TCA1143967PKLRc.1558C>A (p.Pro520Thr)
c.1465C>A (p.Pro489Thr)
c.1717C>A (p.Pro573Thr)
c.1366C>A (p.Pro456Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.155291817T>ACA342750735PKLRc.1557A>T (p.Glu519Asp)
c.1464A>T (p.Glu488Asp)
c.1716A>T (p.Glu572Asp)
c.1365A>T (p.Glu455Asp)
1g.155291817T>CCA421020153PKLRc.1557A>G (p.Glu519=)
c.1464A>G (p.Glu488=)
c.1716A>G (p.Glu572=)
c.1365A>G (p.Glu455=)
1g.155291817T>GCA30900243PKLRc.1557A>C (p.Glu519Asp)
c.1464A>C (p.Glu488Asp)
c.1716A>C (p.Glu572Asp)
c.1365A>C (p.Glu455Asp)
 dbSNP
1g.155291817T=CA2481225406PKLRc.1557A= (p.Glu519=)
c.1464A= (p.Glu488=)
c.1716A= (p.Glu572=)
c.1365A= (p.Glu455=)
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

Number of alleles fetched