Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.53213310_53213312delCA2645711297CPT2c.1692_1694del (p.Ala565del)
c.1659_1661del (p.Ala554del)
c.*1678_*1680del (n.*1678_*1680del)
c.*1339_*1341del (n.*1339_*1341del)
c.1623_1625del (p.Ala542del)
c.1742_1744del (p.Gln581del)
c.387_389del (p.Ala130del)
c.1728_1730del (p.Ala577del)
 gnomAD v4
1g.53213308G>ACA340397446CPT2c.1690G>A (p.Ala564Thr)
c.1657G>A (p.Ala553Thr)
c.*1676G>A (n.*1676G>A)
c.*1337G>A (n.*1337G>A)
c.1621G>A (p.Ala541Thr)
c.1740G>A (p.Gln580=)
c.385G>A (p.Ala129Thr)
c.1726G>A (p.Ala576Thr)
 ClinVar dbSNP
1g.53213308G>CCA340397445CPT2c.1690G>C (p.Ala564Pro)
c.1657G>C (p.Ala553Pro)
c.*1676G>C (n.*1676G>C)
c.*1337G>C (n.*1337G>C)
c.1621G>C (p.Ala541Pro)
c.1740G>C (p.Gln580His)
c.385G>C (p.Ala129Pro)
c.1726G>C (p.Ala576Pro)
1g.53213308G=CA1167216301CPT2c.1690G= (p.Ala564=)
c.1657G= (p.Ala553=)
c.*1676G= (n.*1676G=)
c.*1337G= (n.*1337G=)
c.1621G= (p.Ala541=)
c.1740G= (p.Gln580=)
c.385G= (p.Ala129=)
c.1726G= (p.Ala576=)
1g.53213308G>TCA340397447CPT2c.1690G>T (p.Ala564Ser)
c.1657G>T (p.Ala553Ser)
c.*1676G>T (n.*1676G>T)
c.*1337G>T (n.*1337G>T)
c.1621G>T (p.Ala541Ser)
c.1740G>T (p.Gln580His)
c.385G>T (p.Ala129Ser)
c.1726G>T (p.Ala576Ser)
1g.53213309C>ACA340397448CPT2c.1691C>A (p.Ala564Glu)
c.1658C>A (p.Ala553Glu)
c.*1677C>A (n.*1677C>A)
c.*1338C>A (n.*1338C>A)
c.1622C>A (p.Ala541Glu)
c.1741C>A (p.Gln581Lys)
c.386C>A (p.Ala129Glu)
c.1727C>A (p.Ala576Glu)
1g.53213309C=CA1167216302CPT2c.1691C= (p.Ala564=)
c.1658C= (p.Ala553=)
c.*1677C= (n.*1677C=)
c.*1338C= (n.*1338C=)
c.1622C= (p.Ala541=)
c.1741C= (p.Gln581=)
c.386C= (p.Ala129=)
c.1727C= (p.Ala576=)
1g.53213309C>GCA340397449CPT2c.1691C>G (p.Ala564Gly)
c.1658C>G (p.Ala553Gly)
c.*1677C>G (n.*1677C>G)
c.*1338C>G (n.*1338C>G)
c.1622C>G (p.Ala541Gly)
c.1741C>G (p.Gln581Glu)
c.386C>G (p.Ala129Gly)
c.1727C>G (p.Ala576Gly)
1g.53213309C>TCA340397450CPT2c.1691C>T (p.Ala564Val)
c.1658C>T (p.Ala553Val)
c.*1677C>T (n.*1677C>T)
c.*1338C>T (n.*1338C>T)
c.1622C>T (p.Ala541Val)
c.1741C>T (p.Gln581Ter)
c.386C>T (p.Ala129Val)
c.1727C>T (p.Ala576Val)
 dbSNP
1g.53213310A>CCA417875043CPT2c.1692A>C (p.Ala564=)
c.1659A>C (p.Ala553=)
c.*1678A>C (n.*1678A>C)
c.*1339A>C (n.*1339A>C)
c.1623A>C (p.Ala541=)
c.1742A>C (p.Gln581Pro)
c.387A>C (p.Ala129=)
c.1728A>C (p.Ala576=)
1g.53213310A>GCA417875044CPT2c.1692A>G (p.Ala564=)
c.1659A>G (p.Ala553=)
c.*1678A>G (n.*1678A>G)
c.*1339A>G (n.*1339A>G)
c.1623A>G (p.Ala541=)
c.1742A>G (p.Gln581Arg)
c.387A>G (p.Ala129=)
c.1728A>G (p.Ala576=)
1g.53213310A>TCA417875045CPT2c.1692A>T (p.Ala564=)
c.1659A>T (p.Ala553=)
c.*1678A>T (n.*1678A>T)
c.*1339A>T (n.*1339A>T)
c.1623A>T (p.Ala541=)
c.1742A>T (p.Gln581Leu)
c.387A>T (p.Ala129=)
c.1728A>T (p.Ala576=)
1g.53213311G>ACA340397451CPT2c.1693G>A (p.Ala565Thr)
c.1660G>A (p.Ala554Thr)
c.*1679G>A (n.*1679G>A)
c.*1340G>A (n.*1340G>A)
c.1624G>A (p.Ala542Thr)
c.1743G>A (p.Gln581=)
c.388G>A (p.Ala130Thr)
c.1729G>A (p.Ala577Thr)
 COSMIC
1g.53213311G>CCA340397452CPT2c.1693G>C (p.Ala565Pro)
c.1660G>C (p.Ala554Pro)
c.*1679G>C (n.*1679G>C)
c.*1340G>C (n.*1340G>C)
c.1624G>C (p.Ala542Pro)
c.1743G>C (p.Gln581His)
c.388G>C (p.Ala130Pro)
c.1729G>C (p.Ala577Pro)
1g.53213311G>TCA340397453CPT2c.1693G>T (p.Ala565Ser)
c.1660G>T (p.Ala554Ser)
c.*1679G>T (n.*1679G>T)
c.*1340G>T (n.*1340G>T)
c.1624G>T (p.Ala542Ser)
c.1743G>T (p.Gln581His)
c.388G>T (p.Ala130Ser)
c.1729G>T (p.Ala577Ser)
1g.53213312C>ACA340397454CPT2c.1694C>A (p.Ala565Asp)
c.1661C>A (p.Ala554Asp)
c.*1680C>A (n.*1680C>A)
c.*1341C>A (n.*1341C>A)
c.1625C>A (p.Ala542Asp)
c.1744C>A (p.Pro582Thr)
c.389C>A (p.Ala130Asp)
c.1730C>A (p.Ala577Asp)
1g.53213312C>GCA340397455CPT2c.1694C>G (p.Ala565Gly)
c.1661C>G (p.Ala554Gly)
c.*1680C>G (n.*1680C>G)
c.*1341C>G (n.*1341C>G)
c.1625C>G (p.Ala542Gly)
c.1744C>G (p.Pro582Ala)
c.389C>G (p.Ala130Gly)
c.1730C>G (p.Ala577Gly)
1g.53213312C>TCA340397456CPT2c.1694C>T (p.Ala565Val)
c.1661C>T (p.Ala554Val)
c.*1680C>T (n.*1680C>T)
c.*1341C>T (n.*1341C>T)
c.1625C>T (p.Ala542Val)
c.1744C>T (p.Pro582Ser)
c.389C>T (p.Ala130Val)
c.1730C>T (p.Ala577Val)
 gnomAD v4
1g.53213313C>ACA417875051CPT2c.1695C>A (p.Ala565=)
c.1662C>A (p.Ala554=)
c.*1681C>A (n.*1681C>A)
c.*1342C>A (n.*1342C>A)
c.1626C>A (p.Ala542=)
c.1745C>A (p.Pro582Gln)
c.390C>A (p.Ala130=)
c.1731C>A (p.Ala577=)
1g.53213313C=CA1167216303CPT2c.1695C= (p.Ala565=)
c.1662C= (p.Ala554=)
c.*1681C= (n.*1681C=)
c.*1342C= (n.*1342C=)
c.1626C= (p.Ala542=)
c.1745C= (p.Pro582=)
c.390C= (p.Ala130=)
c.1731C= (p.Ala577=)
1g.53213313C>GCA417875049CPT2c.1695C>G (p.Ala565=)
c.1662C>G (p.Ala554=)
c.*1681C>G (n.*1681C>G)
c.*1342C>G (n.*1342C>G)
c.1626C>G (p.Ala542=)
c.1745C>G (p.Pro582Arg)
c.390C>G (p.Ala130=)
c.1731C>G (p.Ala577=)
1g.53213313C>TCA417875048CPT2c.1695C>T (p.Ala565=)
c.1662C>T (p.Ala554=)
c.*1681C>T (n.*1681C>T)
c.*1342C>T (n.*1342C>T)
c.1626C>T (p.Ala542=)
c.1745C>T (p.Pro582Leu)
c.390C>T (p.Ala130=)
c.1731C>T (p.Ala577=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213314A>CCA340397457CPT2c.1696A>C (p.Lys566Gln)
c.1663A>C (p.Lys555Gln)
c.*1682A>C (n.*1682A>C)
c.*1343A>C (n.*1343A>C)
c.1627A>C (p.Lys543Gln)
c.1746A>C (p.Pro582=)
c.391A>C (p.Lys131Gln)
c.1732A>C (p.Lys578Gln)
1g.53213314A>GCA340397458CPT2c.1696A>G (p.Lys566Glu)
c.1663A>G (p.Lys555Glu)
c.*1682A>G (n.*1682A>G)
c.*1343A>G (n.*1343A>G)
c.1627A>G (p.Lys543Glu)
c.1746A>G (p.Pro582=)
c.391A>G (p.Lys131Glu)
c.1732A>G (p.Lys578Glu)
1g.53213314A>TCA340397459CPT2c.1696A>T (p.Lys566Ter)
c.1663A>T (p.Lys555Ter)
c.*1682A>T (n.*1682A>T)
c.*1343A>T (n.*1343A>T)
c.1627A>T (p.Lys543Ter)
c.1746A>T (p.Pro582=)
c.391A>T (p.Lys131Ter)
c.1732A>T (p.Lys578Ter)
1g.53213315A=CA1167216304CPT2c.1697A= (p.Lys566=)
c.1664A= (p.Lys555=)
c.*1683A= (n.*1683A=)
c.*1344A= (n.*1344A=)
c.1628A= (p.Lys543=)
c.1747A= (p.Lys583=)
c.392A= (p.Lys131=)
c.1733A= (p.Lys578=)
1g.53213315A>CCA340397461CPT2c.1697A>C (p.Lys566Thr)
c.1664A>C (p.Lys555Thr)
c.*1683A>C (n.*1683A>C)
c.*1344A>C (n.*1344A>C)
c.1628A>C (p.Lys543Thr)
c.1747A>C (p.Lys583Gln)
c.392A>C (p.Lys131Thr)
c.1733A>C (p.Lys578Thr)
1g.53213315A>GCA859263CPT2c.1697A>G (p.Lys566Arg)
c.1664A>G (p.Lys555Arg)
c.*1683A>G (n.*1683A>G)
c.*1344A>G (n.*1344A>G)
c.1628A>G (p.Lys543Arg)
c.1747A>G (p.Lys583Glu)
c.392A>G (p.Lys131Arg)
c.1733A>G (p.Lys578Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213315A>TCA340397460CPT2c.1697A>T (p.Lys566Ile)
c.1664A>T (p.Lys555Ile)
c.*1683A>T (n.*1683A>T)
c.*1344A>T (n.*1344A>T)
c.1628A>T (p.Lys543Ile)
c.1747A>T (p.Lys583Ter)
c.392A>T (p.Lys131Ile)
c.1733A>T (p.Lys578Ile)
1g.53213316A>CCA340397462CPT2c.1698A>C (p.Lys566Asn)
c.1665A>C (p.Lys555Asn)
c.*1684A>C (n.*1684A>C)
c.*1345A>C (n.*1345A>C)
c.1629A>C (p.Lys543Asn)
c.1748A>C (p.Lys583Thr)
c.393A>C (p.Lys131Asn)
c.1734A>C (p.Lys578Asn)
 gnomAD v4
1g.53213316A>GCA417875055CPT2c.1698A>G (p.Lys566=)
c.1665A>G (p.Lys555=)
c.*1684A>G (n.*1684A>G)
c.*1345A>G (n.*1345A>G)
c.1629A>G (p.Lys543=)
c.1748A>G (p.Lys583Arg)
c.393A>G (p.Lys131=)
c.1734A>G (p.Lys578=)
1g.53213316A>TCA340397463CPT2c.1698A>T (p.Lys566Asn)
c.1665A>T (p.Lys555Asn)
c.*1684A>T (n.*1684A>T)
c.*1345A>T (n.*1345A>T)
c.1629A>T (p.Lys543Asn)
c.1748A>T (p.Lys583Met)
c.393A>T (p.Lys131Asn)
c.1734A>T (p.Lys578Asn)
1g.53213317G>ACA340397464CPT2c.1699G>A (p.Gly567Arg)
c.1666G>A (p.Gly556Arg)
c.*1685G>A (n.*1685G>A)
c.*1346G>A (n.*1346G>A)
c.1630G>A (p.Gly544Arg)
c.1749G>A (p.Lys583=)
c.394G>A (p.Gly132Arg)
c.1735G>A (p.Gly579Arg)
1g.53213317G>CCA340397465CPT2c.1699G>C (p.Gly567Arg)
c.1666G>C (p.Gly556Arg)
c.*1685G>C (n.*1685G>C)
c.*1346G>C (n.*1346G>C)
c.1630G>C (p.Gly544Arg)
c.1749G>C (p.Lys583Asn)
c.394G>C (p.Gly132Arg)
c.1735G>C (p.Gly579Arg)
1g.53213317G=CA1167216305CPT2c.1699G= (p.Gly567=)
c.1666G= (p.Gly556=)
c.*1685G= (n.*1685G=)
c.*1346G= (n.*1346G=)
c.1630G= (p.Gly544=)
c.1749G= (p.Lys583=)
c.394G= (p.Gly132=)
c.1735G= (p.Gly579=)
1g.53213317G>TCA859264CPT2c.1699G>T (p.Gly567Trp)
c.1666G>T (p.Gly556Trp)
c.*1685G>T (n.*1685G>T)
c.*1346G>T (n.*1346G>T)
c.1630G>T (p.Gly544Trp)
c.1749G>T (p.Lys583Asn)
c.394G>T (p.Gly132Trp)
c.1735G>T (p.Gly579Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213318G>ACA340397466CPT2c.1700G>A (p.Gly567Glu)
c.1667G>A (p.Gly556Glu)
c.*1686G>A (n.*1686G>A)
c.*1347G>A (n.*1347G>A)
c.1631G>A (p.Gly544Glu)
c.1750G>A (p.Gly584Arg)
c.395G>A (p.Gly132Glu)
c.1736G>A (p.Gly579Glu)
1g.53213318G>CCA340397467CPT2c.1700G>C (p.Gly567Ala)
c.1667G>C (p.Gly556Ala)
c.*1686G>C (n.*1686G>C)
c.*1347G>C (n.*1347G>C)
c.1631G>C (p.Gly544Ala)
c.1750G>C (p.Gly584Arg)
c.395G>C (p.Gly132Ala)
c.1736G>C (p.Gly579Ala)
1g.53213318G>TCA340397468CPT2c.1700G>T (p.Gly567Val)
c.1667G>T (p.Gly556Val)
c.*1686G>T (n.*1686G>T)
c.*1347G>T (n.*1347G>T)
c.1631G>T (p.Gly544Val)
c.1750G>T (p.Gly584Ter)
c.395G>T (p.Gly132Val)
c.1736G>T (p.Gly579Val)
1g.53213319G>ACA417875060CPT2c.1701G>A (p.Gly567=)
c.1668G>A (p.Gly556=)
c.*1687G>A (n.*1687G>A)
c.*1348G>A (n.*1348G>A)
c.1632G>A (p.Gly544=)
c.1751G>A (p.Gly584Glu)
c.396G>A (p.Gly132=)
c.1737G>A (p.Gly579=)
 ClinVar
1g.53213319G>CCA417875062CPT2c.1701G>C (p.Gly567=)
c.1668G>C (p.Gly556=)
c.*1687G>C (n.*1687G>C)
c.*1348G>C (n.*1348G>C)
c.1632G>C (p.Gly544=)
c.1751G>C (p.Gly584Ala)
c.396G>C (p.Gly132=)
c.1737G>C (p.Gly579=)
1g.53213319G>TCA417875066CPT2c.1701G>T (p.Gly567=)
c.1668G>T (p.Gly556=)
c.*1687G>T (n.*1687G>T)
c.*1348G>T (n.*1348G>T)
c.1632G>T (p.Gly544=)
c.1751G>T (p.Gly584Val)
c.396G>T (p.Gly132=)
c.1737G>T (p.Gly579=)
1g.53213319_53213322dupCA2574373981CPT2c.1701_1704dup (p.Ile569AspfsTer5)
c.1668_1671dup (p.Ile558AspfsTer5)
c.*1687_*1690dup (n.*1687_*1690dup)
c.*1348_*1351dup (n.*1348_*1351dup)
c.1632_1635dup (p.Ile546AspfsTer5)
c.1751_1754dup (p.Ser586IlefsTer?)
c.396_399dup (p.Ile134AspfsTer5)
c.1737_1740dup (p.Ile581AspfsTer5)
1g.53213320A>CCA340397469CPT2c.1702A>C (p.Ile568Leu)
c.1669A>C (p.Ile557Leu)
c.*1688A>C (n.*1688A>C)
c.*1349A>C (n.*1349A>C)
c.1633A>C (p.Ile545Leu)
c.1752A>C (p.Gly584=)
c.397A>C (p.Ile133Leu)
c.1738A>C (p.Ile580Leu)
1g.53213320A>GCA340397470CPT2c.1702A>G (p.Ile568Val)
c.1669A>G (p.Ile557Val)
c.*1688A>G (n.*1688A>G)
c.*1349A>G (n.*1349A>G)
c.1633A>G (p.Ile545Val)
c.1752A>G (p.Gly584=)
c.397A>G (p.Ile133Val)
c.1738A>G (p.Ile580Val)
 ClinVar
1g.53213320A>TCA340397471CPT2c.1702A>T (p.Ile568Phe)
c.1669A>T (p.Ile557Phe)
c.*1688A>T (n.*1688A>T)
c.*1349A>T (n.*1349A>T)
c.1633A>T (p.Ile545Phe)
c.1752A>T (p.Gly584=)
c.397A>T (p.Ile133Phe)
c.1738A>T (p.Ile580Phe)
1g.53213321T>ACA340397473CPT2c.1703T>A (p.Ile568Asn)
c.1670T>A (p.Ile557Asn)
c.*1689T>A (n.*1689T>A)
c.*1350T>A (n.*1350T>A)
c.1634T>A (p.Ile545Asn)
c.1753T>A (p.Ser585Thr)
c.398T>A (p.Ile133Asn)
c.1739T>A (p.Ile580Asn)
 gnomAD v4
1g.53213321T>CCA340397474CPT2c.1703T>C (p.Ile568Thr)
c.1670T>C (p.Ile557Thr)
c.*1689T>C (n.*1689T>C)
c.*1350T>C (n.*1350T>C)
c.1634T>C (p.Ile545Thr)
c.1753T>C (p.Ser585Pro)
c.398T>C (p.Ile133Thr)
c.1739T>C (p.Ile580Thr)
 dbSNP
1g.53213321T>GCA340397472CPT2c.1703T>G (p.Ile568Ser)
c.1670T>G (p.Ile557Ser)
c.*1689T>G (n.*1689T>G)
c.*1350T>G (n.*1350T>G)
c.1634T>G (p.Ile545Ser)
c.1753T>G (p.Ser585Ala)
c.398T>G (p.Ile133Ser)
c.1739T>G (p.Ile580Ser)
1g.53213321T=CA1167216306CPT2c.1703T= (p.Ile568=)
c.1670T= (p.Ile557=)
c.*1689T= (n.*1689T=)
c.*1350T= (n.*1350T=)
c.1634T= (p.Ile545=)
c.1753T= (p.Ser585=)
c.398T= (p.Ile133=)
c.1739T= (p.Ile580=)
1g.53213322C>ACA417875072CPT2c.1704C>A (p.Ile568=)
c.1671C>A (p.Ile557=)
c.*1690C>A (n.*1690C>A)
c.*1351C>A (n.*1351C>A)
c.1635C>A (p.Ile545=)
c.1754C>A (p.Ser585Ter)
c.399C>A (p.Ile133=)
c.1740C>A (p.Ile580=)
1g.53213322C>GCA340397475CPT2c.1704C>G (p.Ile568Met)
c.1671C>G (p.Ile557Met)
c.*1690C>G (n.*1690C>G)
c.*1351C>G (n.*1351C>G)
c.1635C>G (p.Ile545Met)
c.1754C>G (p.Ser585Ter)
c.399C>G (p.Ile133Met)
c.1740C>G (p.Ile580Met)
 gnomAD v4
1g.53213322C>TCA417875073CPT2c.1704C>T (p.Ile568=)
c.1671C>T (p.Ile557=)
c.*1690C>T (n.*1690C>T)
c.*1351C>T (n.*1351C>T)
c.1635C>T (p.Ile545=)
c.1754C>T (p.Ser585Leu)
c.399C>T (p.Ile133=)
c.1740C>T (p.Ile580=)
1g.53213323A>CCA340397476CPT2c.1705A>C (p.Ile569Leu)
c.1672A>C (p.Ile558Leu)
c.*1691A>C (n.*1691A>C)
c.*1352A>C (n.*1352A>C)
c.1636A>C (p.Ile546Leu)
c.1755A>C (p.Ser585=)
c.400A>C (p.Ile134Leu)
c.1741A>C (p.Ile581Leu)
1g.53213323A>GCA340397477CPT2c.1705A>G (p.Ile569Val)
c.1672A>G (p.Ile558Val)
c.*1691A>G (n.*1691A>G)
c.*1352A>G (n.*1352A>G)
c.1636A>G (p.Ile546Val)
c.1755A>G (p.Ser585=)
c.400A>G (p.Ile134Val)
c.1741A>G (p.Ile581Val)
1g.53213323A>TCA340397478CPT2c.1705A>T (p.Ile569Phe)
c.1672A>T (p.Ile558Phe)
c.*1691A>T (n.*1691A>T)
c.*1352A>T (n.*1352A>T)
c.1636A>T (p.Ile546Phe)
c.1755A>T (p.Ser585=)
c.400A>T (p.Ile134Phe)
c.1741A>T (p.Ile581Phe)
1g.53213324T>ACA340397479CPT2c.1706T>A (p.Ile569Asn)
c.1673T>A (p.Ile558Asn)
c.*1692T>A (n.*1692T>A)
c.*1353T>A (n.*1353T>A)
c.1637T>A (p.Ile546Asn)
c.1756T>A (p.Ser586Thr)
c.401T>A (p.Ile134Asn)
c.1742T>A (p.Ile581Asn)
1g.53213324T>CCA340397480CPT2c.1706T>C (p.Ile569Thr)
c.1673T>C (p.Ile558Thr)
c.*1692T>C (n.*1692T>C)
c.*1353T>C (n.*1353T>C)
c.1637T>C (p.Ile546Thr)
c.1756T>C (p.Ser586Pro)
c.401T>C (p.Ile134Thr)
c.1742T>C (p.Ile581Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.53213324T>GCA340397481CPT2c.1706T>G (p.Ile569Ser)
c.1673T>G (p.Ile558Ser)
c.*1692T>G (n.*1692T>G)
c.*1353T>G (n.*1353T>G)
c.1637T>G (p.Ile546Ser)
c.1756T>G (p.Ser586Ala)
c.401T>G (p.Ile134Ser)
c.1742T>G (p.Ile581Ser)
1g.53213324T=CA1167216307CPT2c.1706T= (p.Ile569=)
c.1673T= (p.Ile558=)
c.*1692T= (n.*1692T=)
c.*1353T= (n.*1353T=)
c.1637T= (p.Ile546=)
c.1756T= (p.Ser586=)
c.401T= (p.Ile134=)
c.1742T= (p.Ile581=)
1g.53213325C>ACA417875080CPT2c.1707C>A (p.Ile569=)
c.1674C>A (p.Ile558=)
c.*1693C>A (n.*1693C>A)
c.*1354C>A (n.*1354C>A)
c.1638C>A (p.Ile546=)
c.1757C>A (p.Ser586Tyr)
c.402C>A (p.Ile134=)
c.1743C>A (p.Ile581=)
1g.53213325C>GCA340397482CPT2c.1707C>G (p.Ile569Met)
c.1674C>G (p.Ile558Met)
c.*1693C>G (n.*1693C>G)
c.*1354C>G (n.*1354C>G)
c.1638C>G (p.Ile546Met)
c.1757C>G (p.Ser586Cys)
c.402C>G (p.Ile134Met)
c.1743C>G (p.Ile581Met)
1g.53213325C>TCA417875081CPT2c.1707C>T (p.Ile569=)
c.1674C>T (p.Ile558=)
c.*1693C>T (n.*1693C>T)
c.*1354C>T (n.*1354C>T)
c.1638C>T (p.Ile546=)
c.1757C>T (p.Ser586Phe)
c.402C>T (p.Ile134=)
c.1743C>T (p.Ile581=)
1g.53213326T>ACA340397483CPT2c.1708T>A (p.Leu570Met)
c.1675T>A (p.Leu559Met)
c.*1694T>A (n.*1694T>A)
c.*1355T>A (n.*1355T>A)
c.1639T>A (p.Leu547Met)
c.1758T>A (p.Ser586=)
c.403T>A (p.Leu135Met)
c.1744T>A (p.Leu582Met)
1g.53213326T>CCA417875082CPT2c.1708T>C (p.Leu570=)
c.1675T>C (p.Leu559=)
c.*1694T>C (n.*1694T>C)
c.*1355T>C (n.*1355T>C)
c.1639T>C (p.Leu547=)
c.1758T>C (p.Ser586=)
c.403T>C (p.Leu135=)
c.1744T>C (p.Leu582=)
 dbSNP gnomAD v3 gnomAD v4
1g.53213326T>GCA340397484CPT2c.1708T>G (p.Leu570Val)
c.1675T>G (p.Leu559Val)
c.*1694T>G (n.*1694T>G)
c.*1355T>G (n.*1355T>G)
c.1639T>G (p.Leu547Val)
c.1758T>G (p.Ser586=)
c.403T>G (p.Leu135Val)
c.1744T>G (p.Leu582Val)
1g.53213326T=CA1167216308CPT2c.1708T= (p.Leu570=)
c.1675T= (p.Leu559=)
c.*1694T= (n.*1694T=)
c.*1355T= (n.*1355T=)
c.1639T= (p.Leu547=)
c.1758T= (p.Ser586=)
c.403T= (p.Leu135=)
c.1744T= (p.Leu582=)
1g.53213327T>ACA340397485CPT2c.1709T>A (p.Leu570Ter)
c.1676T>A (p.Leu559Ter)
c.*1695T>A (n.*1695T>A)
c.*1356T>A (n.*1356T>A)
c.1640T>A (p.Leu547Ter)
c.1759T>A (p.Cys587Ser)
c.404T>A (p.Leu135Ter)
c.1745T>A (p.Leu582Ter)
1g.53213327T>CCA340397486CPT2c.1709T>C (p.Leu570Ser)
c.1676T>C (p.Leu559Ser)
c.*1695T>C (n.*1695T>C)
c.*1356T>C (n.*1356T>C)
c.1640T>C (p.Leu547Ser)
c.1759T>C (p.Cys587Arg)
c.404T>C (p.Leu135Ser)
c.1745T>C (p.Leu582Ser)
1g.53213327T>GCA340397487CPT2c.1709T>G (p.Leu570Trp)
c.1676T>G (p.Leu559Trp)
c.*1695T>G (n.*1695T>G)
c.*1356T>G (n.*1356T>G)
c.1640T>G (p.Leu547Trp)
c.1759T>G (p.Cys587Gly)
c.404T>G (p.Leu135Trp)
c.1745T>G (p.Leu582Trp)
1g.53213328G>ACA417875086CPT2c.1710G>A (p.Leu570=)
c.1677G>A (p.Leu559=)
c.*1696G>A (n.*1696G>A)
c.*1357G>A (n.*1357G>A)
c.1641G>A (p.Leu547=)
c.1760G>A (p.Cys587Tyr)
c.405G>A (p.Leu135=)
c.1746G>A (p.Leu582=)
1g.53213328G>CCA340397489CPT2c.1710G>C (p.Leu570Phe)
c.1677G>C (p.Leu559Phe)
c.*1696G>C (n.*1696G>C)
c.*1357G>C (n.*1357G>C)
c.1641G>C (p.Leu547Phe)
c.1760G>C (p.Cys587Ser)
c.405G>C (p.Leu135Phe)
c.1746G>C (p.Leu582Phe)
1g.53213328G>TCA340397488CPT2c.1710G>T (p.Leu570Phe)
c.1677G>T (p.Leu559Phe)
c.*1696G>T (n.*1696G>T)
c.*1357G>T (n.*1357G>T)
c.1641G>T (p.Leu547Phe)
c.1760G>T (p.Cys587Phe)
c.405G>T (p.Leu135Phe)
c.1746G>T (p.Leu582Phe)
1g.53213329C>ACA340397490CPT2c.1711C>A (p.Pro571Thr)
c.1678C>A (p.Pro560Thr)
c.*1697C>A (n.*1697C>A)
c.*1358C>A (n.*1358C>A)
c.1642C>A (p.Pro548Thr)
c.1761C>A (p.Cys587Ter)
c.406C>A (p.Pro136Thr)
c.1747C>A (p.Pro583Thr)
 ClinVar dbSNP
1g.53213329C=CA1167216309CPT2c.1711C= (p.Pro571=)
c.1678C= (p.Pro560=)
c.*1697C= (n.*1697C=)
c.*1358C= (n.*1358C=)
c.1642C= (p.Pro548=)
c.1761C= (p.Cys587=)
c.406C= (p.Pro136=)
c.1747C= (p.Pro583=)
1g.53213329C>GCA340397491CPT2c.1711C>G (p.Pro571Ala)
c.1678C>G (p.Pro560Ala)
c.*1697C>G (n.*1697C>G)
c.*1358C>G (n.*1358C>G)
c.1642C>G (p.Pro548Ala)
c.1761C>G (p.Cys587Trp)
c.406C>G (p.Pro136Ala)
c.1747C>G (p.Pro583Ala)
1g.53213329C>TCA340397492CPT2c.1711C>T (p.Pro571Ser)
c.1678C>T (p.Pro560Ser)
c.*1697C>T (n.*1697C>T)
c.*1358C>T (n.*1358C>T)
c.1642C>T (p.Pro548Ser)
c.1761C>T (p.Cys587=)
c.406C>T (p.Pro136Ser)
c.1747C>T (p.Pro583Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213330C>ACA340397493CPT2c.1712C>A (p.Pro571His)
c.1679C>A (p.Pro560His)
c.*1698C>A (n.*1698C>A)
c.*1359C>A (n.*1359C>A)
c.1643C>A (p.Pro548His)
c.1762C>A (p.Leu588Met)
c.407C>A (p.Pro136His)
c.1748C>A (p.Pro583His)
1g.53213330C>GCA340397494CPT2c.1712C>G (p.Pro571Arg)
c.1679C>G (p.Pro560Arg)
c.*1698C>G (n.*1698C>G)
c.*1359C>G (n.*1359C>G)
c.1643C>G (p.Pro548Arg)
c.1762C>G (p.Leu588Val)
c.407C>G (p.Pro136Arg)
c.1748C>G (p.Pro583Arg)
 ClinVar
1g.53213330C>TCA340397495CPT2c.1712C>T (p.Pro571Leu)
c.1679C>T (p.Pro560Leu)
c.*1698C>T (n.*1698C>T)
c.*1359C>T (n.*1359C>T)
c.1643C>T (p.Pro548Leu)
c.1762C>T (p.Leu588=)
c.407C>T (p.Pro136Leu)
c.1748C>T (p.Pro583Leu)
1g.53213331T>ACA417875089CPT2c.1713T>A (p.Pro571=)
c.1680T>A (p.Pro560=)
c.*1699T>A (n.*1699T>A)
c.*1360T>A (n.*1360T>A)
c.1644T>A (p.Pro548=)
c.1763T>A (p.Leu588Gln)
c.408T>A (p.Pro136=)
c.1749T>A (p.Pro583=)
1g.53213331T>CCA417875090CPT2c.1713T>C (p.Pro571=)
c.1680T>C (p.Pro560=)
c.*1699T>C (n.*1699T>C)
c.*1360T>C (n.*1360T>C)
c.1644T>C (p.Pro548=)
c.1763T>C (p.Leu588Pro)
c.408T>C (p.Pro136=)
c.1749T>C (p.Pro583=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.53213331T>GCA417875091CPT2c.1713T>G (p.Pro571=)
c.1680T>G (p.Pro560=)
c.*1699T>G (n.*1699T>G)
c.*1360T>G (n.*1360T>G)
c.1644T>G (p.Pro548=)
c.1763T>G (p.Leu588Arg)
c.408T>G (p.Pro136=)
c.1749T>G (p.Pro583=)
1g.53213331T=CA1167216310CPT2c.1713T= (p.Pro571=)
c.1680T= (p.Pro560=)
c.*1699T= (n.*1699T=)
c.*1360T= (n.*1360T=)
c.1644T= (p.Pro548=)
c.1763T= (p.Leu588=)
c.408T= (p.Pro136=)
c.1749T= (p.Pro583=)
1g.53213332G>ACA340397498CPT2c.1714G>A (p.Glu572Lys)
c.1681G>A (p.Glu561Lys)
c.*1700G>A (n.*1700G>A)
c.*1361G>A (n.*1361G>A)
c.1645G>A (p.Glu549Lys)
c.1764G>A (p.Leu588=)
c.409G>A (p.Glu137Lys)
c.1750G>A (p.Glu584Lys)
1g.53213332G>CCA340397496CPT2c.1714G>C (p.Glu572Gln)
c.1681G>C (p.Glu561Gln)
c.*1700G>C (n.*1700G>C)
c.*1361G>C (n.*1361G>C)
c.1645G>C (p.Glu549Gln)
c.1764G>C (p.Leu588=)
c.409G>C (p.Glu137Gln)
c.1750G>C (p.Glu584Gln)
1g.53213332G>TCA340397497CPT2c.1714G>T (p.Glu572Ter)
c.1681G>T (p.Glu561Ter)
c.*1700G>T (n.*1700G>T)
c.*1361G>T (n.*1361G>T)
c.1645G>T (p.Glu549Ter)
c.1764G>T (p.Leu588=)
c.409G>T (p.Glu137Ter)
c.1750G>T (p.Glu584Ter)
1g.53213333A=CA1167216311CPT2c.1715A= (p.Glu572=)
c.1682A= (p.Glu561=)
c.*1701A= (n.*1701A=)
c.*1362A= (n.*1362A=)
c.1646A= (p.Glu549=)
c.1765A= (p.Ser589=)
c.410A= (p.Glu137=)
c.1751A= (p.Glu584=)
1g.53213333A>CCA340397499CPT2c.1715A>C (p.Glu572Ala)
c.1682A>C (p.Glu561Ala)
c.*1701A>C (n.*1701A>C)
c.*1362A>C (n.*1362A>C)
c.1646A>C (p.Glu549Ala)
c.1765A>C (p.Ser589Arg)
c.410A>C (p.Glu137Ala)
c.1751A>C (p.Glu584Ala)
 dbSNP
1g.53213333A>GCA340397500CPT2c.1715A>G (p.Glu572Gly)
c.1682A>G (p.Glu561Gly)
c.*1701A>G (n.*1701A>G)
c.*1362A>G (n.*1362A>G)
c.1646A>G (p.Glu549Gly)
c.1765A>G (p.Ser589Gly)
c.410A>G (p.Glu137Gly)
c.1751A>G (p.Glu584Gly)
 ClinVar dbSNP
1g.53213333A>TCA340397501CPT2c.1715A>T (p.Glu572Val)
c.1682A>T (p.Glu561Val)
c.*1701A>T (n.*1701A>T)
c.*1362A>T (n.*1362A>T)
c.1646A>T (p.Glu549Val)
c.1765A>T (p.Ser589Cys)
c.410A>T (p.Glu137Val)
c.1751A>T (p.Glu584Val)
1g.53213334G>ACA417875098CPT2c.1716G>A (p.Glu572=)
c.1683G>A (p.Glu561=)
c.*1702G>A (n.*1702G>A)
c.*1363G>A (n.*1363G>A)
c.1647G>A (p.Glu549=)
c.1766G>A (p.Ser589Asn)
c.411G>A (p.Glu137=)
c.1752G>A (p.Glu584=)
 gnomAD v4
1g.53213334G>CCA340397502CPT2c.1716G>C (p.Glu572Asp)
c.1683G>C (p.Glu561Asp)
c.*1702G>C (n.*1702G>C)
c.*1363G>C (n.*1363G>C)
c.1647G>C (p.Glu549Asp)
c.1766G>C (p.Ser589Thr)
c.411G>C (p.Glu137Asp)
c.1752G>C (p.Glu584Asp)
1g.53213334G>TCA340397503CPT2c.1716G>T (p.Glu572Asp)
c.1683G>T (p.Glu561Asp)
c.*1702G>T (n.*1702G>T)
c.*1363G>T (n.*1363G>T)
c.1647G>T (p.Glu549Asp)
c.1766G>T (p.Ser589Ile)
c.411G>T (p.Glu137Asp)
c.1752G>T (p.Glu584Asp)
1g.53213335C>ACA340397506CPT2c.1717C>A (p.Leu573Ile)
c.1684C>A (p.Leu562Ile)
c.*1703C>A (n.*1703C>A)
c.*1364C>A (n.*1364C>A)
c.1648C>A (p.Leu550Ile)
c.1767C>A (p.Ser589Arg)
c.412C>A (p.Leu138Ile)
c.1753C>A (p.Leu585Ile)
1g.53213335C>GCA340397505CPT2c.1717C>G (p.Leu573Val)
c.1684C>G (p.Leu562Val)
c.*1703C>G (n.*1703C>G)
c.*1364C>G (n.*1364C>G)
c.1648C>G (p.Leu550Val)
c.1767C>G (p.Ser589Arg)
c.412C>G (p.Leu138Val)
c.1753C>G (p.Leu585Val)
1g.53213335C>TCA340397504CPT2c.1717C>T (p.Leu573Phe)
c.1684C>T (p.Leu562Phe)
c.*1703C>T (n.*1703C>T)
c.*1364C>T (n.*1364C>T)
c.1648C>T (p.Leu550Phe)
c.1767C>T (p.Ser589=)
c.412C>T (p.Leu138Phe)
c.1753C>T (p.Leu585Phe)
1g.53213336T>ACA340397507CPT2c.1718T>A (p.Leu573His)
c.1685T>A (p.Leu562His)
c.*1704T>A (n.*1704T>A)
c.*1365T>A (n.*1365T>A)
c.1649T>A (p.Leu550His)
c.1768T>A (p.Ser590Thr)
c.413T>A (p.Leu138His)
c.1754T>A (p.Leu585His)
 gnomAD v4
1g.53213336T>CCA340397509CPT2c.1718T>C (p.Leu573Pro)
c.1685T>C (p.Leu562Pro)
c.*1704T>C (n.*1704T>C)
c.*1365T>C (n.*1365T>C)
c.1649T>C (p.Leu550Pro)
c.1768T>C (p.Ser590Pro)
c.413T>C (p.Leu138Pro)
c.1754T>C (p.Leu585Pro)
1g.53213336T>GCA340397508CPT2c.1718T>G (p.Leu573Arg)
c.1685T>G (p.Leu562Arg)
c.*1704T>G (n.*1704T>G)
c.*1365T>G (n.*1365T>G)
c.1649T>G (p.Leu550Arg)
c.1768T>G (p.Ser590Ala)
c.413T>G (p.Leu138Arg)
c.1754T>G (p.Leu585Arg)
 ClinVar dbSNP
1g.53213336T=CA1167216312CPT2c.1718T= (p.Leu573=)
c.1685T= (p.Leu562=)
c.*1704T= (n.*1704T=)
c.*1365T= (n.*1365T=)
c.1649T= (p.Leu550=)
c.1768T= (p.Ser590=)
c.413T= (p.Leu138=)
c.1754T= (p.Leu585=)
1g.53213337C>ACA417875102CPT2c.1719C>A (p.Leu573=)
c.1686C>A (p.Leu562=)
c.*1705C>A (n.*1705C>A)
c.*1366C>A (n.*1366C>A)
c.1650C>A (p.Leu550=)
c.1769C>A (p.Ser590Tyr)
c.414C>A (p.Leu138=)
c.1755C>A (p.Leu585=)
1g.53213337C>GCA417875103CPT2c.1719C>G (p.Leu573=)
c.1686C>G (p.Leu562=)
c.*1705C>G (n.*1705C>G)
c.*1366C>G (n.*1366C>G)
c.1650C>G (p.Leu550=)
c.1769C>G (p.Ser590Cys)
c.414C>G (p.Leu138=)
c.1755C>G (p.Leu585=)
1g.53213337C>TCA417875104CPT2c.1719C>T (p.Leu573=)
c.1686C>T (p.Leu562=)
c.*1705C>T (n.*1705C>T)
c.*1366C>T (n.*1366C>T)
c.1650C>T (p.Leu550=)
c.1769C>T (p.Ser590Phe)
c.414C>T (p.Leu138=)
c.1755C>T (p.Leu585=)
1g.53213338T>ACA340397510CPT2c.1720T>A (p.Tyr574Asn)
c.1687T>A (p.Tyr563Asn)
c.*1706T>A (n.*1706T>A)
c.*1367T>A (n.*1367T>A)
c.1651T>A (p.Tyr551Asn)
c.1770T>A (p.Ser590=)
c.415T>A (p.Tyr139Asn)
c.1756T>A (p.Tyr586Asn)
1g.53213338T>CCA340397511CPT2c.1720T>C (p.Tyr574His)
c.1687T>C (p.Tyr563His)
c.*1706T>C (n.*1706T>C)
c.*1367T>C (n.*1367T>C)
c.1651T>C (p.Tyr551His)
c.1770T>C (p.Ser590=)
c.415T>C (p.Tyr139His)
c.1756T>C (p.Tyr586His)
1g.53213338T>GCA340397512CPT2c.1720T>G (p.Tyr574Asp)
c.1687T>G (p.Tyr563Asp)
c.*1706T>G (n.*1706T>G)
c.*1367T>G (n.*1367T>G)
c.1651T>G (p.Tyr551Asp)
c.1770T>G (p.Ser590=)
c.415T>G (p.Tyr139Asp)
c.1756T>G (p.Tyr586Asp)
1g.53213339A=CA1167216313CPT2c.1721A= (p.Tyr574=)
c.1688A= (p.Tyr563=)
c.*1707A= (n.*1707A=)
c.*1368A= (n.*1368A=)
c.1652A= (p.Tyr551=)
c.1771A= (p.Thr591=)
c.416A= (p.Tyr139=)
c.1757A= (p.Tyr586=)
1g.53213339A>CCA340397513CPT2c.1721A>C (p.Tyr574Ser)
c.1688A>C (p.Tyr563Ser)
c.*1707A>C (n.*1707A>C)
c.*1368A>C (n.*1368A>C)
c.1652A>C (p.Tyr551Ser)
c.1771A>C (p.Thr591Pro)
c.416A>C (p.Tyr139Ser)
c.1757A>C (p.Tyr586Ser)
 ClinVar dbSNP gnomAD v4
1g.53213339A>GCA340397514CPT2c.1721A>G (p.Tyr574Cys)
c.1688A>G (p.Tyr563Cys)
c.*1707A>G (n.*1707A>G)
c.*1368A>G (n.*1368A>G)
c.1652A>G (p.Tyr551Cys)
c.1771A>G (p.Thr591Ala)
c.416A>G (p.Tyr139Cys)
c.1757A>G (p.Tyr586Cys)
1g.53213339A>TCA340397515CPT2c.1721A>T (p.Tyr574Phe)
c.1688A>T (p.Tyr563Phe)
c.*1707A>T (n.*1707A>T)
c.*1368A>T (n.*1368A>T)
c.1652A>T (p.Tyr551Phe)
c.1771A>T (p.Thr591Ser)
c.416A>T (p.Tyr139Phe)
c.1757A>T (p.Tyr586Phe)
 gnomAD v4
1g.53213340C>ACA340397516CPT2c.1722C>A (p.Tyr574Ter)
c.1689C>A (p.Tyr563Ter)
c.*1708C>A (n.*1708C>A)
c.*1369C>A (n.*1369C>A)
c.1653C>A (p.Tyr551Ter)
c.1772C>A (p.Thr591Asn)
c.417C>A (p.Tyr139Ter)
c.1758C>A (p.Tyr586Ter)
1g.53213340C>GCA340397517CPT2c.1722C>G (p.Tyr574Ter)
c.1689C>G (p.Tyr563Ter)
c.*1708C>G (n.*1708C>G)
c.*1369C>G (n.*1369C>G)
c.1653C>G (p.Tyr551Ter)
c.1772C>G (p.Thr591Ser)
c.417C>G (p.Tyr139Ter)
c.1758C>G (p.Tyr586Ter)
1g.53213340C>TCA417875113CPT2c.1722C>T (p.Tyr574=)
c.1689C>T (p.Tyr563=)
c.*1708C>T (n.*1708C>T)
c.*1369C>T (n.*1369C>T)
c.1653C>T (p.Tyr551=)
c.1772C>T (p.Thr591Ile)
c.417C>T (p.Tyr139=)
c.1758C>T (p.Tyr586=)
 ClinVar
1g.53213341C>ACA340397518CPT2c.1723C>A (p.Leu575Met)
c.1690C>A (p.Leu564Met)
c.*1709C>A (n.*1709C>A)
c.*1370C>A (n.*1370C>A)
c.1654C>A (p.Leu552Met)
c.1773C>A (p.Thr591=)
c.418C>A (p.Leu140Met)
c.1759C>A (p.Leu587Met)
1g.53213341C=CA1167216314CPT2c.1723C= (p.Leu575=)
c.1690C= (p.Leu564=)
c.*1709C= (n.*1709C=)
c.*1370C= (n.*1370C=)
c.1654C= (p.Leu552=)
c.1773C= (p.Thr591=)
c.418C= (p.Leu140=)
c.1759C= (p.Leu587=)
1g.53213341C>GCA340397519CPT2c.1723C>G (p.Leu575Val)
c.1690C>G (p.Leu564Val)
c.*1709C>G (n.*1709C>G)
c.*1370C>G (n.*1370C>G)
c.1654C>G (p.Leu552Val)
c.1773C>G (p.Thr591=)
c.418C>G (p.Leu140Val)
c.1759C>G (p.Leu587Val)
1g.53213341C>TCA417875120CPT2c.1723C>T (p.Leu575=)
c.1690C>T (p.Leu564=)
c.*1709C>T (n.*1709C>T)
c.*1370C>T (n.*1370C>T)
c.1654C>T (p.Leu552=)
c.1773C>T (p.Thr591=)
c.418C>T (p.Leu140=)
c.1759C>T (p.Leu587=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213342T>ACA340397520CPT2c.1724T>A (p.Leu575Gln)
c.1691T>A (p.Leu564Gln)
c.*1710T>A (n.*1710T>A)
c.*1371T>A (n.*1371T>A)
c.1655T>A (p.Leu552Gln)
c.1774T>A (p.Trp592Arg)
c.419T>A (p.Leu140Gln)
c.1760T>A (p.Leu587Gln)
1g.53213342T>CCA340397521CPT2c.1724T>C (p.Leu575Pro)
c.1691T>C (p.Leu564Pro)
c.*1710T>C (n.*1710T>C)
c.*1371T>C (n.*1371T>C)
c.1655T>C (p.Leu552Pro)
c.1774T>C (p.Trp592Arg)
c.419T>C (p.Leu140Pro)
c.1760T>C (p.Leu587Pro)
1g.53213342T>GCA340397522CPT2c.1724T>G (p.Leu575Arg)
c.1691T>G (p.Leu564Arg)
c.*1710T>G (n.*1710T>G)
c.*1371T>G (n.*1371T>G)
c.1655T>G (p.Leu552Arg)
c.1774T>G (p.Trp592Gly)
c.419T>G (p.Leu140Arg)
c.1760T>G (p.Leu587Arg)
1g.53213342_53213344delinsTGGCA1167216315CPT2c.1724_1726delinsTGG (p.Leu575=)
c.1691_1693delinsTGG (p.Leu564=)
c.*1710_*1712delinsTGG (n.*1710_*1712delinsTGG)
c.*1371_*1373delinsTGG (n.*1371_*1373delinsTGG)
c.1655_1657delinsTGG (p.Leu552=)
c.1774_1776delinsTGG (p.Trp592=)
c.419_421delinsTGG (p.Leu140=)
c.1760_1762delinsTGG (p.Leu587=)
1g.53213343G>ACA417875122CPT2c.1725G>A (p.Leu575=)
c.1692G>A (p.Leu564=)
c.*1711G>A (n.*1711G>A)
c.*1372G>A (n.*1372G>A)
c.1656G>A (p.Leu552=)
c.1775G>A (p.Trp592Ter)
c.420G>A (p.Leu140=)
c.1761G>A (p.Leu587=)
1g.53213343G>CCA417875123CPT2c.1725G>C (p.Leu575=)
c.1692G>C (p.Leu564=)
c.*1711G>C (n.*1711G>C)
c.*1372G>C (n.*1372G>C)
c.1656G>C (p.Leu552=)
c.1775G>C (p.Trp592Ser)
c.420G>C (p.Leu140=)
c.1761G>C (p.Leu587=)
1g.53213343G>TCA417875125CPT2c.1725G>T (p.Leu575=)
c.1692G>T (p.Leu564=)
c.*1711G>T (n.*1711G>T)
c.*1372G>T (n.*1372G>T)
c.1656G>T (p.Leu552=)
c.1775G>T (p.Trp592Leu)
c.420G>T (p.Leu140=)
c.1761G>T (p.Leu587=)
1g.53213343_53213344delCA1139656150CPT2c.1725_1726del (p.Asp576ProfsTer?)
c.1692_1693del (p.Asp565ProfsTer?)
c.*1711_*1712del (n.*1711_*1712del)
c.*1372_*1373del (n.*1372_*1373del)
c.1656_1657del (p.Asp553ProfsTer?)
c.1775_1776del (p.Trp592TyrfsTer?)
c.420_421del (p.Asp141ProfsTer?)
c.1761_1762del (p.Asp588ProfsTer?)
 ClinVar dbSNP gnomAD v4
1g.53213344G>ACA340397525CPT2c.1726G>A (p.Asp576Asn)
c.1693G>A (p.Asp565Asn)
c.*1712G>A (n.*1712G>A)
c.*1373G>A (n.*1373G>A)
c.1657G>A (p.Asp553Asn)
c.1776G>A (p.Trp592Ter)
c.421G>A (p.Asp141Asn)
c.1762G>A (p.Asp588Asn)
1g.53213344G>CCA340397523CPT2c.1726G>C (p.Asp576His)
c.1693G>C (p.Asp565His)
c.*1712G>C (n.*1712G>C)
c.*1373G>C (n.*1373G>C)
c.1657G>C (p.Asp553His)
c.1776G>C (p.Trp592Cys)
c.421G>C (p.Asp141His)
c.1762G>C (p.Asp588His)
1g.53213344G>TCA340397524CPT2c.1726G>T (p.Asp576Tyr)
c.1693G>T (p.Asp565Tyr)
c.*1712G>T (n.*1712G>T)
c.*1373G>T (n.*1373G>T)
c.1657G>T (p.Asp553Tyr)
c.1776G>T (p.Trp592Cys)
c.421G>T (p.Asp141Tyr)
c.1762G>T (p.Asp588Tyr)
1g.53213345A>CCA340397526CPT2c.1727A>C (p.Asp576Ala)
c.1694A>C (p.Asp565Ala)
c.*1713A>C (n.*1713A>C)
c.*1374A>C (n.*1374A>C)
c.1658A>C (p.Asp553Ala)
c.1777A>C (p.Thr593Pro)
c.422A>C (p.Asp141Ala)
c.1763A>C (p.Asp588Ala)
1g.53213345A>GCA340397527CPT2c.1727A>G (p.Asp576Gly)
c.1694A>G (p.Asp565Gly)
c.*1713A>G (n.*1713A>G)
c.*1374A>G (n.*1374A>G)
c.1658A>G (p.Asp553Gly)
c.1777A>G (p.Thr593Ala)
c.422A>G (p.Asp141Gly)
c.1763A>G (p.Asp588Gly)
1g.53213345A>TCA340397528CPT2c.1727A>T (p.Asp576Val)
c.1694A>T (p.Asp565Val)
c.*1713A>T (n.*1713A>T)
c.*1374A>T (n.*1374A>T)
c.1658A>T (p.Asp553Val)
c.1777A>T (p.Thr593Ser)
c.422A>T (p.Asp141Val)
c.1763A>T (p.Asp588Val)
1g.53213346C>ACA340397529CPT2c.1728C>A (p.Asp576Glu)
c.1695C>A (p.Asp565Glu)
c.*1714C>A (n.*1714C>A)
c.*1375C>A (n.*1375C>A)
c.1659C>A (p.Asp553Glu)
c.1778C>A (p.Thr593Asn)
c.423C>A (p.Asp141Glu)
c.1764C>A (p.Asp588Glu)
1g.53213346C>GCA340397530CPT2c.1728C>G (p.Asp576Glu)
c.1695C>G (p.Asp565Glu)
c.*1714C>G (n.*1714C>G)
c.*1375C>G (n.*1375C>G)
c.1659C>G (p.Asp553Glu)
c.1778C>G (p.Thr593Ser)
c.423C>G (p.Asp141Glu)
c.1764C>G (p.Asp588Glu)
1g.53213346C>TCA417875135CPT2c.1728C>T (p.Asp576=)
c.1695C>T (p.Asp565=)
c.*1714C>T (n.*1714C>T)
c.*1375C>T (n.*1375C>T)
c.1659C>T (p.Asp553=)
c.1778C>T (p.Thr593Ile)
c.423C>T (p.Asp141=)
c.1764C>T (p.Asp588=)
1g.53213347C>ACA22641883CPT2c.1729C>A (p.Pro577Thr)
c.1696C>A (p.Pro566Thr)
c.*1715C>A (n.*1715C>A)
c.*1376C>A (n.*1376C>A)
c.1660C>A (p.Pro554Thr)
c.1779C>A (p.Thr593=)
c.424C>A (p.Pro142Thr)
c.1765C>A (p.Pro589Thr)
 dbSNP gnomAD v4
1g.53213347C=CA1149103860CPT2c.1729C= (p.Pro577=)
c.1696C= (p.Pro566=)
c.*1715C= (n.*1715C=)
c.*1376C= (n.*1376C=)
c.1660C= (p.Pro554=)
c.1779C= (p.Thr593=)
c.424C= (p.Pro142=)
c.1765C= (p.Pro589=)
1g.53213347C>GCA340397531CPT2c.1729C>G (p.Pro577Ala)
c.1696C>G (p.Pro566Ala)
c.*1715C>G (n.*1715C>G)
c.*1376C>G (n.*1376C>G)
c.1660C>G (p.Pro554Ala)
c.1779C>G (p.Thr593=)
c.424C>G (p.Pro142Ala)
c.1765C>G (p.Pro589Ala)
1g.53213347C>TCA340397532CPT2c.1729C>T (p.Pro577Ser)
c.1696C>T (p.Pro566Ser)
c.*1715C>T (n.*1715C>T)
c.*1376C>T (n.*1376C>T)
c.1660C>T (p.Pro554Ser)
c.1779C>T (p.Thr593=)
c.424C>T (p.Pro142Ser)
c.1765C>T (p.Pro589Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.53213348C>ACA340397533CPT2c.1730C>A (p.Pro577His)
c.1697C>A (p.Pro566His)
c.*1716C>A (n.*1716C>A)
c.*1377C>A (n.*1377C>A)
c.1661C>A (p.Pro554His)
c.1780C>A (p.Leu594Met)
c.425C>A (p.Pro142His)
c.1766C>A (p.Pro589His)
1g.53213348C>GCA340397534CPT2c.1730C>G (p.Pro577Arg)
c.1697C>G (p.Pro566Arg)
c.*1716C>G (n.*1716C>G)
c.*1377C>G (n.*1377C>G)
c.1661C>G (p.Pro554Arg)
c.1780C>G (p.Leu594Val)
c.425C>G (p.Pro142Arg)
c.1766C>G (p.Pro589Arg)
1g.53213348C>TCA340397535CPT2c.1730C>T (p.Pro577Leu)
c.1697C>T (p.Pro566Leu)
c.*1716C>T (n.*1716C>T)
c.*1377C>T (n.*1377C>T)
c.1661C>T (p.Pro554Leu)
c.1780C>T (p.Leu594=)
c.425C>T (p.Pro142Leu)
c.1766C>T (p.Pro589Leu)
 gnomAD v4
1g.53213349T>ACA417875146CPT2c.1731T>A (p.Pro577=)
c.1698T>A (p.Pro566=)
c.*1717T>A (n.*1717T>A)
c.*1378T>A (n.*1378T>A)
c.1662T>A (p.Pro554=)
c.1781T>A (p.Leu594Gln)
c.426T>A (p.Pro142=)
c.1767T>A (p.Pro589=)
1g.53213349T>CCA417875149CPT2c.1731T>C (p.Pro577=)
c.1698T>C (p.Pro566=)
c.*1717T>C (n.*1717T>C)
c.*1378T>C (n.*1378T>C)
c.1662T>C (p.Pro554=)
c.1781T>C (p.Leu594Pro)
c.426T>C (p.Pro142=)
c.1767T>C (p.Pro589=)
1g.53213349T>GCA417875151CPT2c.1731T>G (p.Pro577=)
c.1698T>G (p.Pro566=)
c.*1717T>G (n.*1717T>G)
c.*1378T>G (n.*1378T>G)
c.1662T>G (p.Pro554=)
c.1781T>G (p.Leu594Arg)
c.426T>G (p.Pro142=)
c.1767T>G (p.Pro589=)
1g.53213350G>ACA340397538CPT2c.1732G>A (p.Ala578Thr)
c.1699G>A (p.Ala567Thr)
c.*1718G>A (n.*1718G>A)
c.*1379G>A (n.*1379G>A)
c.1663G>A (p.Ala555Thr)
c.1782G>A (p.Leu594=)
c.427G>A (p.Ala143Thr)
c.1768G>A (p.Ala590Thr)
1g.53213350G>CCA340397537CPT2c.1732G>C (p.Ala578Pro)
c.1699G>C (p.Ala567Pro)
c.*1718G>C (n.*1718G>C)
c.*1379G>C (n.*1379G>C)
c.1663G>C (p.Ala555Pro)
c.1782G>C (p.Leu594=)
c.427G>C (p.Ala143Pro)
c.1768G>C (p.Ala590Pro)
1g.53213350G>TCA340397536CPT2c.1732G>T (p.Ala578Ser)
c.1699G>T (p.Ala567Ser)
c.*1718G>T (n.*1718G>T)
c.*1379G>T (n.*1379G>T)
c.1663G>T (p.Ala555Ser)
c.1782G>T (p.Leu594=)
c.427G>T (p.Ala143Ser)
c.1768G>T (p.Ala590Ser)
1g.53213351C>ACA340397539CPT2c.1733C>A (p.Ala578Glu)
c.1700C>A (p.Ala567Glu)
c.*1719C>A (n.*1719C>A)
c.*1380C>A (n.*1380C>A)
c.1664C>A (p.Ala555Glu)
c.1783C>A (p.His595Asn)
c.428C>A (p.Ala143Glu)
c.1769C>A (p.Ala590Glu)
1g.53213351C>GCA340397540CPT2c.1733C>G (p.Ala578Gly)
c.1700C>G (p.Ala567Gly)
c.*1719C>G (n.*1719C>G)
c.*1380C>G (n.*1380C>G)
c.1664C>G (p.Ala555Gly)
c.1783C>G (p.His595Asp)
c.428C>G (p.Ala143Gly)
c.1769C>G (p.Ala590Gly)
1g.53213351C>TCA340397541CPT2c.1733C>T (p.Ala578Val)
c.1700C>T (p.Ala567Val)
c.*1719C>T (n.*1719C>T)
c.*1380C>T (n.*1380C>T)
c.1664C>T (p.Ala555Val)
c.1783C>T (p.His595Tyr)
c.428C>T (p.Ala143Val)
c.1769C>T (p.Ala590Val)
1g.53213352A>CCA417875159CPT2c.1734A>C (p.Ala578=)
c.1701A>C (p.Ala567=)
c.*1720A>C (n.*1720A>C)
c.*1381A>C (n.*1381A>C)
c.1665A>C (p.Ala555=)
c.1784A>C (p.His595Pro)
c.429A>C (p.Ala143=)
c.1770A>C (p.Ala590=)
1g.53213352A>GCA417875158CPT2c.1734A>G (p.Ala578=)
c.1701A>G (p.Ala567=)
c.*1720A>G (n.*1720A>G)
c.*1381A>G (n.*1381A>G)
c.1665A>G (p.Ala555=)
c.1784A>G (p.His595Arg)
c.429A>G (p.Ala143=)
c.1770A>G (p.Ala590=)
1g.53213352A>TCA417875157CPT2c.1734A>T (p.Ala578=)
c.1701A>T (p.Ala567=)
c.*1720A>T (n.*1720A>T)
c.*1381A>T (n.*1381A>T)
c.1665A>T (p.Ala555=)
c.1784A>T (p.His595Leu)
c.429A>T (p.Ala143=)
c.1770A>T (p.Ala590=)
1g.53213353T>ACA340397542CPT2c.1735T>A (p.Tyr579Asn)
c.1702T>A (p.Tyr568Asn)
c.*1721T>A (n.*1721T>A)
c.*1382T>A (n.*1382T>A)
c.1666T>A (p.Tyr556Asn)
c.1785T>A (p.His595Gln)
c.430T>A (p.Tyr144Asn)
c.1771T>A (p.Tyr591Asn)
1g.53213353T>CCA340397543CPT2c.1735T>C (p.Tyr579His)
c.1702T>C (p.Tyr568His)
c.*1721T>C (n.*1721T>C)
c.*1382T>C (n.*1382T>C)
c.1666T>C (p.Tyr556His)
c.1785T>C (p.His595=)
c.430T>C (p.Tyr144His)
c.1771T>C (p.Tyr591His)
1g.53213353T>GCA340397544CPT2c.1735T>G (p.Tyr579Asp)
c.1702T>G (p.Tyr568Asp)
c.*1721T>G (n.*1721T>G)
c.*1382T>G (n.*1382T>G)
c.1666T>G (p.Tyr556Asp)
c.1785T>G (p.His595Gln)
c.430T>G (p.Tyr144Asp)
c.1771T>G (p.Tyr591Asp)
1g.53213354A>CCA340397545CPT2c.1736A>C (p.Tyr579Ser)
c.1703A>C (p.Tyr568Ser)
c.*1722A>C (n.*1722A>C)
c.*1383A>C (n.*1383A>C)
c.1667A>C (p.Tyr556Ser)
c.1786A>C (p.Thr596Pro)
c.431A>C (p.Tyr144Ser)
c.1772A>C (p.Tyr591Ser)
1g.53213354A>GCA340397546CPT2c.1736A>G (p.Tyr579Cys)
c.1703A>G (p.Tyr568Cys)
c.*1722A>G (n.*1722A>G)
c.*1383A>G (n.*1383A>G)
c.1667A>G (p.Tyr556Cys)
c.1786A>G (p.Thr596Ala)
c.431A>G (p.Tyr144Cys)
c.1772A>G (p.Tyr591Cys)
1g.53213354A>TCA340397547CPT2c.1736A>T (p.Tyr579Phe)
c.1703A>T (p.Tyr568Phe)
c.*1722A>T (n.*1722A>T)
c.*1383A>T (n.*1383A>T)
c.1667A>T (p.Tyr556Phe)
c.1786A>T (p.Thr596Ser)
c.431A>T (p.Tyr144Phe)
c.1772A>T (p.Tyr591Phe)
1g.53213354_53213355delinsACCA1167216316CPT2c.1736_1737delinsAC (p.Tyr579=)
c.1703_1704delinsAC (p.Tyr568=)
c.*1722_*1723delinsAC (n.*1722_*1723delinsAC)
c.*1383_*1384delinsAC (n.*1383_*1384delinsAC)
c.1667_1668delinsAC (p.Tyr556=)
c.1786_1787delinsAC (p.Thr596=)
c.431_432delinsAC (p.Tyr144=)
c.1772_1773delinsAC (p.Tyr591=)
1g.53213355delCA347768CPT2c.1737del (p.Tyr579Ter)
c.1704del (p.Tyr568Ter)
c.*1723del (n.*1723del)
c.*1384del (n.*1384del)
c.1668del (p.Tyr556Ter)
c.1787del (p.Thr596ArgfsTer29)
c.432del (p.Tyr144Ter)
c.1773del (p.Tyr591Ter)
 ClinVar dbSNP gnomAD v4
1g.53213355C>ACA340397548CPT2c.1737C>A (p.Tyr579Ter)
c.1704C>A (p.Tyr568Ter)
c.*1723C>A (n.*1723C>A)
c.*1384C>A (n.*1384C>A)
c.1668C>A (p.Tyr556Ter)
c.1787C>A (p.Thr596Lys)
c.432C>A (p.Tyr144Ter)
c.1773C>A (p.Tyr591Ter)
 ClinVar
1g.53213355C=CA1144232849CPT2c.1737C= (p.Tyr579=)
c.1704C= (p.Tyr568=)
c.*1723C= (n.*1723C=)
c.*1384C= (n.*1384C=)
c.1668C= (p.Tyr556=)
c.1787C= (p.Thr596=)
c.432C= (p.Tyr144=)
c.1773C= (p.Tyr591=)
1g.53213355C>GCA340397549CPT2c.1737C>G (p.Tyr579Ter)
c.1704C>G (p.Tyr568Ter)
c.*1723C>G (n.*1723C>G)
c.*1384C>G (n.*1384C>G)
c.1668C>G (p.Tyr556Ter)
c.1787C>G (p.Thr596Arg)
c.432C>G (p.Tyr144Ter)
c.1773C>G (p.Tyr591Ter)
1g.53213355C>TCA22641912CPT2c.1737C>T (p.Tyr579=)
c.1704C>T (p.Tyr568=)
c.*1723C>T (n.*1723C>T)
c.*1384C>T (n.*1384C>T)
c.1668C>T (p.Tyr556=)
c.1787C>T (p.Thr596Met)
c.432C>T (p.Tyr144=)
c.1773C>T (p.Tyr591=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213356G>ACA859265CPT2c.1738G>A (p.Gly580Arg)
c.1705G>A (p.Gly569Arg)
c.*1724G>A (n.*1724G>A)
c.*1385G>A (n.*1385G>A)
c.1669G>A (p.Gly557Arg)
c.1788G>A (p.Thr596=)
c.433G>A (p.Gly145Arg)
c.1774G>A (p.Gly592Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213356G>CCA340397551CPT2c.1738G>C (p.Gly580Arg)
c.1705G>C (p.Gly569Arg)
c.*1724G>C (n.*1724G>C)
c.*1385G>C (n.*1385G>C)
c.1669G>C (p.Gly557Arg)
c.1788G>C (p.Thr596=)
c.433G>C (p.Gly145Arg)
c.1774G>C (p.Gly592Arg)
1g.53213356G=CA1147462287CPT2c.1738G= (p.Gly580=)
c.1705G= (p.Gly569=)
c.*1724G= (n.*1724G=)
c.*1385G= (n.*1385G=)
c.1669G= (p.Gly557=)
c.1788G= (p.Thr596=)
c.433G= (p.Gly145=)
c.1774G= (p.Gly592=)
1g.53213356G>TCA340397550CPT2c.1738G>T (p.Gly580Trp)
c.1705G>T (p.Gly569Trp)
c.*1724G>T (n.*1724G>T)
c.*1385G>T (n.*1385G>T)
c.1669G>T (p.Gly557Trp)
c.1788G>T (p.Thr596=)
c.433G>T (p.Gly145Trp)
c.1774G>T (p.Gly592Trp)
1g.53213358delCA2645711356CPT2c.1740del (p.Gln581ArgfsTer2)
c.1707del (p.Gln570ArgfsTer2)
c.*1726del (n.*1726del)
c.*1387del (n.*1387del)
c.1671del (p.Gln558ArgfsTer2)
c.1790del (p.Gly597AlafsTer28)
c.435del (p.Gln146ArgfsTer2)
c.1776del (p.Gln593ArgfsTer2)
 gnomAD v4
1g.53213357G>ACA340397552CPT2c.1739G>A (p.Gly580Glu)
c.1706G>A (p.Gly569Glu)
c.*1725G>A (n.*1725G>A)
c.*1386G>A (n.*1386G>A)
c.1670G>A (p.Gly557Glu)
c.1789G>A (p.Gly597Ser)
c.434G>A (p.Gly145Glu)
c.1775G>A (p.Gly592Glu)
 gnomAD v4
1g.53213357G>CCA340397553CPT2c.1739G>C (p.Gly580Ala)
c.1706G>C (p.Gly569Ala)
c.*1725G>C (n.*1725G>C)
c.*1386G>C (n.*1386G>C)
c.1670G>C (p.Gly557Ala)
c.1789G>C (p.Gly597Arg)
c.434G>C (p.Gly145Ala)
c.1775G>C (p.Gly592Ala)
1g.53213357G>TCA340397554CPT2c.1739G>T (p.Gly580Val)
c.1706G>T (p.Gly569Val)
c.*1725G>T (n.*1725G>T)
c.*1386G>T (n.*1386G>T)
c.1670G>T (p.Gly557Val)
c.1789G>T (p.Gly597Cys)
c.434G>T (p.Gly145Val)
c.1775G>T (p.Gly592Val)
1g.53213358G>ACA859267CPT2c.1740G>A (p.Gly580=)
c.1707G>A (p.Gly569=)
c.*1726G>A (n.*1726G>A)
c.*1387G>A (n.*1387G>A)
c.1671G>A (p.Gly557=)
c.1790G>A (p.Gly597Asp)
c.435G>A (p.Gly145=)
c.1776G>A (p.Gly592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213358G>CCA417875176CPT2c.1740G>C (p.Gly580=)
c.1707G>C (p.Gly569=)
c.*1726G>C (n.*1726G>C)
c.*1387G>C (n.*1387G>C)
c.1671G>C (p.Gly557=)
c.1790G>C (p.Gly597Ala)
c.435G>C (p.Gly145=)
c.1776G>C (p.Gly592=)
1g.53213358G=CA1143795817CPT2c.1740G= (p.Gly580=)
c.1707G= (p.Gly569=)
c.*1726G= (n.*1726G=)
c.*1387G= (n.*1387G=)
c.1671G= (p.Gly557=)
c.1790G= (p.Gly597=)
c.435G= (p.Gly145=)
c.1776G= (p.Gly592=)
1g.53213358G>TCA859266CPT2c.1740G>T (p.Gly580=)
c.1707G>T (p.Gly569=)
c.*1726G>T (n.*1726G>T)
c.*1387G>T (n.*1387G>T)
c.1671G>T (p.Gly557=)
c.1790G>T (p.Gly597Val)
c.435G>T (p.Gly145=)
c.1776G>T (p.Gly592=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213359C>ACA340397557CPT2c.1741C>A (p.Gln581Lys)
c.1708C>A (p.Gln570Lys)
c.*1727C>A (n.*1727C>A)
c.*1388C>A (n.*1388C>A)
c.1672C>A (p.Gln558Lys)
c.1791C>A (p.Gly597=)
c.436C>A (p.Gln146Lys)
c.1777C>A (p.Gln593Lys)
1g.53213359C>GCA340397555CPT2c.1741C>G (p.Gln581Glu)
c.1708C>G (p.Gln570Glu)
c.*1727C>G (n.*1727C>G)
c.*1388C>G (n.*1388C>G)
c.1672C>G (p.Gln558Glu)
c.1791C>G (p.Gly597=)
c.436C>G (p.Gln146Glu)
c.1777C>G (p.Gln593Glu)
1g.53213359C>TCA340397556CPT2c.1741C>T (p.Gln581Ter)
c.1708C>T (p.Gln570Ter)
c.*1727C>T (n.*1727C>T)
c.*1388C>T (n.*1388C>T)
c.1672C>T (p.Gln558Ter)
c.1791C>T (p.Gly597=)
c.436C>T (p.Gln146Ter)
c.1777C>T (p.Gln593Ter)
 ClinVar
1g.53213360A>CCA340397558CPT2c.1742A>C (p.Gln581Pro)
c.1709A>C (p.Gln570Pro)
c.*1728A>C (n.*1728A>C)
c.*1389A>C (n.*1389A>C)
c.1673A>C (p.Gln558Pro)
c.1792A>C (p.Arg598=)
c.437A>C (p.Gln146Pro)
c.1778A>C (p.Gln593Pro)
1g.53213360A>GCA340397559CPT2c.1742A>G (p.Gln581Arg)
c.1709A>G (p.Gln570Arg)
c.*1728A>G (n.*1728A>G)
c.*1389A>G (n.*1389A>G)
c.1673A>G (p.Gln558Arg)
c.1792A>G (p.Arg598Gly)
c.437A>G (p.Gln146Arg)
c.1778A>G (p.Gln593Arg)
1g.53213360A>TCA340397560CPT2c.1742A>T (p.Gln581Leu)
c.1709A>T (p.Gln570Leu)
c.*1728A>T (n.*1728A>T)
c.*1389A>T (n.*1389A>T)
c.1673A>T (p.Gln558Leu)
c.1792A>T (p.Arg598Ter)
c.437A>T (p.Gln146Leu)
c.1778A>T (p.Gln593Leu)
1g.53213361G>ACA417875177CPT2c.1743G>A (p.Gln581=)
c.1710G>A (p.Gln570=)
c.*1729G>A (n.*1729G>A)
c.*1390G>A (n.*1390G>A)
c.1674G>A (p.Gln558=)
c.1793G>A (p.Arg598Lys)
c.438G>A (p.Gln146=)
c.1779G>A (p.Gln593=)
1g.53213361G>CCA340397561CPT2c.1743G>C (p.Gln581His)
c.1710G>C (p.Gln570His)
c.*1729G>C (n.*1729G>C)
c.*1390G>C (n.*1390G>C)
c.1674G>C (p.Gln558His)
c.1793G>C (p.Arg598Thr)
c.438G>C (p.Gln146His)
c.1779G>C (p.Gln593His)
1g.53213361G>TCA340397562CPT2c.1743G>T (p.Gln581His)
c.1710G>T (p.Gln570His)
c.*1729G>T (n.*1729G>T)
c.*1390G>T (n.*1390G>T)
c.1674G>T (p.Gln558His)
c.1793G>T (p.Arg598Ile)
c.438G>T (p.Gln146His)
c.1779G>T (p.Gln593His)
1g.53213362A>CCA340397563CPT2c.1744A>C (p.Ile582Leu)
c.1711A>C (p.Ile571Leu)
c.*1730A>C (n.*1730A>C)
c.*1391A>C (n.*1391A>C)
c.1675A>C (p.Ile559Leu)
c.1794A>C (p.Arg598Ser)
c.439A>C (p.Ile147Leu)
c.1780A>C (p.Ile594Leu)
1g.53213362A>GCA340397565CPT2c.1744A>G (p.Ile582Val)
c.1711A>G (p.Ile571Val)
c.*1730A>G (n.*1730A>G)
c.*1391A>G (n.*1391A>G)
c.1675A>G (p.Ile559Val)
c.1794A>G (p.Arg598=)
c.439A>G (p.Ile147Val)
c.1780A>G (p.Ile594Val)
1g.53213362A>TCA340397564CPT2c.1744A>T (p.Ile582Leu)
c.1711A>T (p.Ile571Leu)
c.*1730A>T (n.*1730A>T)
c.*1391A>T (n.*1391A>T)
c.1675A>T (p.Ile559Leu)
c.1794A>T (p.Arg598Ser)
c.439A>T (p.Ile147Leu)
c.1780A>T (p.Ile594Leu)
1g.53213363T>ACA340397566CPT2c.1745T>A (p.Ile582Lys)
c.1712T>A (p.Ile571Lys)
c.*1731T>A (n.*1731T>A)
c.*1392T>A (n.*1392T>A)
c.1676T>A (p.Ile559Lys)
c.1795T>A (p.Ter599Lys)
c.440T>A (p.Ile147Lys)
c.1781T>A (p.Ile594Lys)
1g.53213363T>CCA340397568CPT2c.1745T>C (p.Ile582Thr)
c.1712T>C (p.Ile571Thr)
c.*1731T>C (n.*1731T>C)
c.*1392T>C (n.*1392T>C)
c.1676T>C (p.Ile559Thr)
c.1795T>C (p.Ter599Gln)
c.440T>C (p.Ile147Thr)
c.1781T>C (p.Ile594Thr)
1g.53213363T>GCA340397567CPT2c.1745T>G (p.Ile582Arg)
c.1712T>G (p.Ile571Arg)
c.*1731T>G (n.*1731T>G)
c.*1392T>G (n.*1392T>G)
c.1676T>G (p.Ile559Arg)
c.1795T>G (p.Ter599Glu)
c.440T>G (p.Ile147Arg)
c.1781T>G (p.Ile594Arg)
1g.53213364A>CCA417875182CPT2c.1746A>C (p.Ile582=)
c.1713A>C (p.Ile571=)
c.*1732A>C (n.*1732A>C)
c.*1393A>C (n.*1393A>C)
c.1677A>C (p.Ile559=)
c.1796A>C (p.Ter599Ser)
c.441A>C (p.Ile147=)
c.1782A>C (p.Ile594=)
1g.53213364A>GCA340397569CPT2c.1746A>G (p.Ile582Met)
c.1713A>G (p.Ile571Met)
c.*1732A>G (n.*1732A>G)
c.*1393A>G (n.*1393A>G)
c.1677A>G (p.Ile559Met)
c.1796A>G (p.Ter599=)
c.441A>G (p.Ile147Met)
c.1782A>G (p.Ile594Met)
1g.53213364A>TCA417875183CPT2c.1746A>T (p.Ile582=)
c.1713A>T (p.Ile571=)
c.*1732A>T (n.*1732A>T)
c.*1393A>T (n.*1393A>T)
c.1677A>T (p.Ile559=)
c.1796A>T (p.Ter599Leu)
c.441A>T (p.Ile147=)
c.1782A>T (p.Ile594=)
1g.53213365A>CCA340397571CPT2c.1747A>C (p.Asn583His)
c.1714A>C (p.Asn572His)
c.*1733A>C (n.*1733A>C)
c.*1394A>C (n.*1394A>C)
c.1678A>C (p.Asn560His)
c.1797A>C (p.Ter599Tyr)
c.442A>C (p.Asn148His)
c.1783A>C (p.Asn595His)
1g.53213365A>GCA340397570CPT2c.1747A>G (p.Asn583Asp)
c.1714A>G (p.Asn572Asp)
c.*1733A>G (n.*1733A>G)
c.*1394A>G (n.*1394A>G)
c.1678A>G (p.Asn560Asp)
c.1797A>G (p.Ter599=)
c.442A>G (p.Asn148Asp)
c.1783A>G (p.Asn595Asp)
 gnomAD v4
1g.53213365A>TCA340397572CPT2c.1747A>T (p.Asn583Tyr)
c.1714A>T (p.Asn572Tyr)
c.*1733A>T (n.*1733A>T)
c.*1394A>T (n.*1394A>T)
c.1678A>T (p.Asn560Tyr)
c.1797A>T (p.Ter599Tyr)
c.442A>T (p.Asn148Tyr)
c.1783A>T (p.Asn595Tyr)
1g.53213366A>CCA340397573CPT2c.1748A>C (p.Asn583Thr)
c.1715A>C (p.Asn572Thr)
c.*1734A>C (n.*1734A>C)
c.*1395A>C (n.*1395A>C)
c.1679A>C (p.Asn560Thr)
c.*1A>C (n.*1A>C)
c.443A>C (p.Asn148Thr)
c.1784A>C (p.Asn595Thr)
1g.53213366A>GCA340397575CPT2c.1748A>G (p.Asn583Ser)
c.1715A>G (p.Asn572Ser)
c.*1734A>G (n.*1734A>G)
c.*1395A>G (n.*1395A>G)
c.1679A>G (p.Asn560Ser)
c.*1A>G (n.*1A>G)
c.443A>G (p.Asn148Ser)
c.1784A>G (p.Asn595Ser)
1g.53213366A>TCA340397574CPT2c.1748A>T (p.Asn583Ile)
c.1715A>T (p.Asn572Ile)
c.*1734A>T (n.*1734A>T)
c.*1395A>T (n.*1395A>T)
c.1679A>T (p.Asn560Ile)
c.*1A>T (n.*1A>T)
c.443A>T (p.Asn148Ile)
c.1784A>T (p.Asn595Ile)
1g.53213367C>ACA340397576CPT2c.1749C>A (p.Asn583Lys)
c.1716C>A (p.Asn572Lys)
c.*1735C>A (n.*1735C>A)
c.*1396C>A (n.*1396C>A)
c.1680C>A (p.Asn560Lys)
c.*2C>A (n.*2C>A)
c.444C>A (p.Asn148Lys)
c.1785C>A (p.Asn595Lys)
 ClinVar dbSNP
1g.53213367C=CA1167216317CPT2c.1749C= (p.Asn583=)
c.1716C= (p.Asn572=)
c.*1735C= (n.*1735C=)
c.*1396C= (n.*1396C=)
c.1680C= (p.Asn560=)
c.*2C= (n.*2C=)
c.444C= (p.Asn148=)
c.1785C= (p.Asn595=)
1g.53213367C>GCA340397577CPT2c.1749C>G (p.Asn583Lys)
c.1716C>G (p.Asn572Lys)
c.*1735C>G (n.*1735C>G)
c.*1396C>G (n.*1396C>G)
c.1680C>G (p.Asn560Lys)
c.*2C>G (n.*2C>G)
c.444C>G (p.Asn148Lys)
c.1785C>G (p.Asn595Lys)
1g.53213367C>TCA417875188CPT2c.1749C>T (p.Asn583=)
c.1716C>T (p.Asn572=)
c.*1735C>T (n.*1735C>T)
c.*1396C>T (n.*1396C>T)
c.1680C>T (p.Asn560=)
c.*2C>T (n.*2C>T)
c.444C>T (p.Asn148=)
c.1785C>T (p.Asn595=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213368C>ACA340397578CPT2c.1750C>A (p.His584Asn)
c.1717C>A (p.His573Asn)
c.*1736C>A (n.*1736C>A)
c.*1397C>A (n.*1397C>A)
c.1681C>A (p.His561Asn)
c.*3C>A (n.*3C>A)
c.445C>A (p.His149Asn)
c.1786C>A (p.His596Asn)
 gnomAD v4
1g.53213368C=CA1167216318CPT2c.1750C= (p.His584=)
c.1717C= (p.His573=)
c.*1736C= (n.*1736C=)
c.*1397C= (n.*1397C=)
c.1681C= (p.His561=)
c.*3C= (n.*3C=)
c.445C= (p.His149=)
c.1786C= (p.His596=)
1g.53213368C>GCA340397579CPT2c.1750C>G (p.His584Asp)
c.1717C>G (p.His573Asp)
c.*1736C>G (n.*1736C>G)
c.*1397C>G (n.*1397C>G)
c.1681C>G (p.His561Asp)
c.*3C>G (n.*3C>G)
c.445C>G (p.His149Asp)
c.1786C>G (p.His596Asp)
 gnomAD v4
1g.53213368C>TCA859268CPT2c.1750C>T (p.His584Tyr)
c.1717C>T (p.His573Tyr)
c.*1736C>T (n.*1736C>T)
c.*1397C>T (n.*1397C>T)
c.1681C>T (p.His561Tyr)
c.*3C>T (n.*3C>T)
c.445C>T (p.His149Tyr)
c.1786C>T (p.His596Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213369A=CA1167216319CPT2c.1751A= (p.His584=)
c.1718A= (p.His573=)
c.*1737A= (n.*1737A=)
c.*1398A= (n.*1398A=)
c.1682A= (p.His561=)
c.*4A= (n.*4A=)
c.446A= (p.His149=)
c.1787A= (p.His596=)
1g.53213369A>CCA340397580CPT2c.1751A>C (p.His584Pro)
c.1718A>C (p.His573Pro)
c.*1737A>C (n.*1737A>C)
c.*1398A>C (n.*1398A>C)
c.1682A>C (p.His561Pro)
c.*4A>C (n.*4A>C)
c.446A>C (p.His149Pro)
c.1787A>C (p.His596Pro)
 COSMIC
1g.53213369A>GCA859269CPT2c.1751A>G (p.His584Arg)
c.1718A>G (p.His573Arg)
c.*1737A>G (n.*1737A>G)
c.*1398A>G (n.*1398A>G)
c.1682A>G (p.His561Arg)
c.*4A>G (n.*4A>G)
c.446A>G (p.His149Arg)
c.1787A>G (p.His596Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213369A>TCA340397581CPT2c.1751A>T (p.His584Leu)
c.1718A>T (p.His573Leu)
c.*1737A>T (n.*1737A>T)
c.*1398A>T (n.*1398A>T)
c.1682A>T (p.His561Leu)
c.*4A>T (n.*4A>T)
c.446A>T (p.His149Leu)
c.1787A>T (p.His596Leu)
1g.53213370C>ACA340397582CPT2c.1752C>A (p.His584Gln)
c.1719C>A (p.His573Gln)
c.*1738C>A (n.*1738C>A)
c.*1399C>A (n.*1399C>A)
c.1683C>A (p.His561Gln)
c.*5C>A (n.*5C>A)
c.447C>A (p.His149Gln)
c.1788C>A (p.His596Gln)
 ClinVar dbSNP
1g.53213370C=CA1167216320CPT2c.1752C= (p.His584=)
c.1719C= (p.His573=)
c.*1738C= (n.*1738C=)
c.*1399C= (n.*1399C=)
c.1683C= (p.His561=)
c.*5C= (n.*5C=)
c.447C= (p.His149=)
c.1788C= (p.His596=)
1g.53213370C>GCA340397583CPT2c.1752C>G (p.His584Gln)
c.1719C>G (p.His573Gln)
c.*1738C>G (n.*1738C>G)
c.*1399C>G (n.*1399C>G)
c.1683C>G (p.His561Gln)
c.*5C>G (n.*5C>G)
c.447C>G (p.His149Gln)
c.1788C>G (p.His596Gln)
1g.53213370C>TCA417875199CPT2c.1752C>T (p.His584=)
c.1719C>T (p.His573=)
c.*1738C>T (n.*1738C>T)
c.*1399C>T (n.*1399C>T)
c.1683C>T (p.His561=)
c.*5C>T (n.*5C>T)
c.447C>T (p.His149=)
c.1788C>T (p.His596=)
1g.53213370_53213371insGTATGCCA2573131937CPT2c.1752_1753insGTATGC (p.His584_Asn585insValCys)
c.1719_1720insGTATGC (p.His573_Asn574insValCys)
c.*1738_*1739insGTATGC (n.*1738_*1739insGTATGC)
c.*1399_*1400insGTATGC (n.*1399_*1400insGTATGC)
c.1683_1684insGTATGC (p.His561_Asn562insValCys)
c.*5_*6insGTATGC (n.*5_*6insGTATGC)
c.447_448insGTATGC (p.His149_Asn150insValCys)
c.1788_1789insGTATGC (p.His596_Asn597insValCys)
 dbSNP
1g.53213371A>CCA340397584CPT2c.1753A>C (p.Asn585His)
c.1720A>C (p.Asn574His)
c.*1739A>C (n.*1739A>C)
c.*1400A>C (n.*1400A>C)
c.1684A>C (p.Asn562His)
c.*6A>C (n.*6A>C)
c.448A>C (p.Asn150His)
c.1789A>C (p.Asn597His)
1g.53213371A>GCA340397585CPT2c.1753A>G (p.Asn585Asp)
c.1720A>G (p.Asn574Asp)
c.*1739A>G (n.*1739A>G)
c.*1400A>G (n.*1400A>G)
c.1684A>G (p.Asn562Asp)
c.*6A>G (n.*6A>G)
c.448A>G (p.Asn150Asp)
c.1789A>G (p.Asn597Asp)
1g.53213371A>TCA340397586CPT2c.1753A>T (p.Asn585Tyr)
c.1720A>T (p.Asn574Tyr)
c.*1739A>T (n.*1739A>T)
c.*1400A>T (n.*1400A>T)
c.1684A>T (p.Asn562Tyr)
c.*6A>T (n.*6A>T)
c.448A>T (p.Asn150Tyr)
c.1789A>T (p.Asn597Tyr)
1g.53213372A>CCA340397589CPT2c.1754A>C (p.Asn585Thr)
c.1721A>C (p.Asn574Thr)
c.*1740A>C (n.*1740A>C)
c.*1401A>C (n.*1401A>C)
c.1685A>C (p.Asn562Thr)
c.*7A>C (n.*7A>C)
c.449A>C (p.Asn150Thr)
c.1790A>C (p.Asn597Thr)
1g.53213372A>GCA340397587CPT2c.1754A>G (p.Asn585Ser)
c.1721A>G (p.Asn574Ser)
c.*1740A>G (n.*1740A>G)
c.*1401A>G (n.*1401A>G)
c.1685A>G (p.Asn562Ser)
c.*7A>G (n.*7A>G)
c.449A>G (p.Asn150Ser)
c.1790A>G (p.Asn597Ser)
 COSMIC
1g.53213372A>TCA340397588CPT2c.1754A>T (p.Asn585Ile)
c.1721A>T (p.Asn574Ile)
c.*1740A>T (n.*1740A>T)
c.*1401A>T (n.*1401A>T)
c.1685A>T (p.Asn562Ile)
c.*7A>T (n.*7A>T)
c.449A>T (p.Asn150Ile)
c.1790A>T (p.Asn597Ile)
1g.53213373T>ACA340397590CPT2c.1755T>A (p.Asn585Lys)
c.1722T>A (p.Asn574Lys)
c.*1741T>A (n.*1741T>A)
c.*1402T>A (n.*1402T>A)
c.1686T>A (p.Asn562Lys)
c.*8T>A (n.*8T>A)
c.450T>A (p.Asn150Lys)
c.1791T>A (p.Asn597Lys)
1g.53213373T>CCA417875205CPT2c.1755T>C (p.Asn585=)
c.1722T>C (p.Asn574=)
c.*1741T>C (n.*1741T>C)
c.*1402T>C (n.*1402T>C)
c.1686T>C (p.Asn562=)
c.*8T>C (n.*8T>C)
c.450T>C (p.Asn150=)
c.1791T>C (p.Asn597=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.53213373T>GCA340397591CPT2c.1755T>G (p.Asn585Lys)
c.1722T>G (p.Asn574Lys)
c.*1741T>G (n.*1741T>G)
c.*1402T>G (n.*1402T>G)
c.1686T>G (p.Asn562Lys)
c.*8T>G (n.*8T>G)
c.450T>G (p.Asn150Lys)
c.1791T>G (p.Asn597Lys)
1g.53213373T=CA1167216321CPT2c.1755T= (p.Asn585=)
c.1722T= (p.Asn574=)
c.*1741T= (n.*1741T=)
c.*1402T= (n.*1402T=)
c.1686T= (p.Asn562=)
c.*8T= (n.*8T=)
c.450T= (p.Asn150=)
c.1791T= (p.Asn597=)
1g.53213374G>ACA340397592CPT2c.1756G>A (p.Val586Ile)
c.1723G>A (p.Val575Ile)
c.*1742G>A (n.*1742G>A)
c.*1403G>A (n.*1403G>A)
c.1687G>A (p.Val563Ile)
c.*9G>A (n.*9G>A)
c.451G>A (p.Val151Ile)
c.1792G>A (p.Val598Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.53213374G>CCA340397593CPT2c.1756G>C (p.Val586Leu)
c.1723G>C (p.Val575Leu)
c.*1742G>C (n.*1742G>C)
c.*1403G>C (n.*1403G>C)
c.1687G>C (p.Val563Leu)
c.*9G>C (n.*9G>C)
c.451G>C (p.Val151Leu)
c.1792G>C (p.Val598Leu)
1g.53213374G=CA1167216322CPT2c.1756G= (p.Val586=)
c.1723G= (p.Val575=)
c.*1742G= (n.*1742G=)
c.*1403G= (n.*1403G=)
c.1687G= (p.Val563=)
c.*9G= (n.*9G=)
c.451G= (p.Val151=)
c.1792G= (p.Val598=)
1g.53213374G>TCA340397594CPT2c.1756G>T (p.Val586Phe)
c.1723G>T (p.Val575Phe)
c.*1742G>T (n.*1742G>T)
c.*1403G>T (n.*1403G>T)
c.1687G>T (p.Val563Phe)
c.*9G>T (n.*9G>T)
c.451G>T (p.Val151Phe)
c.1792G>T (p.Val598Phe)
1g.53213375T>ACA340397595CPT2c.1757T>A (p.Val586Asp)
c.1724T>A (p.Val575Asp)
c.*1743T>A (n.*1743T>A)
c.*1404T>A (n.*1404T>A)
c.1688T>A (p.Val563Asp)
c.*10T>A (n.*10T>A)
c.452T>A (p.Val151Asp)
c.1793T>A (p.Val598Asp)
 ClinVar dbSNP
1g.53213375T>CCA340397596CPT2c.1757T>C (p.Val586Ala)
c.1724T>C (p.Val575Ala)
c.*1743T>C (n.*1743T>C)
c.*1404T>C (n.*1404T>C)
c.1688T>C (p.Val563Ala)
c.*10T>C (n.*10T>C)
c.452T>C (p.Val151Ala)
c.1793T>C (p.Val598Ala)
 gnomAD v4
1g.53213375T>GCA340397597CPT2c.1757T>G (p.Val586Gly)
c.1724T>G (p.Val575Gly)
c.*1743T>G (n.*1743T>G)
c.*1404T>G (n.*1404T>G)
c.1688T>G (p.Val563Gly)
c.*10T>G (n.*10T>G)
c.452T>G (p.Val151Gly)
c.1793T>G (p.Val598Gly)
1g.53213376C>ACA417875211CPT2c.1758C>A (p.Val586=)
c.1725C>A (p.Val575=)
c.*1744C>A (n.*1744C>A)
c.*1405C>A (n.*1405C>A)
c.1689C>A (p.Val563=)
c.*11C>A (n.*11C>A)
c.453C>A (p.Val151=)
c.1794C>A (p.Val598=)
1g.53213376C>GCA417875213CPT2c.1758C>G (p.Val586=)
c.1725C>G (p.Val575=)
c.*1744C>G (n.*1744C>G)
c.*1405C>G (n.*1405C>G)
c.1689C>G (p.Val563=)
c.*11C>G (n.*11C>G)
c.453C>G (p.Val151=)
c.1794C>G (p.Val598=)
1g.53213376C>TCA417875210CPT2c.1758C>T (p.Val586=)
c.1725C>T (p.Val575=)
c.*1744C>T (n.*1744C>T)
c.*1405C>T (n.*1405C>T)
c.1689C>T (p.Val563=)
c.*11C>T (n.*11C>T)
c.453C>T (p.Val151=)
c.1794C>T (p.Val598=)
1g.53213377C>ACA340397598CPT2c.1759C>A (p.Leu587Met)
c.1726C>A (p.Leu576Met)
c.*1745C>A (n.*1745C>A)
c.*1406C>A (n.*1406C>A)
c.1690C>A (p.Leu564Met)
c.*12C>A (n.*12C>A)
c.454C>A (p.Leu152Met)
c.1795C>A (p.Leu599Met)
1g.53213377C>GCA340397599CPT2c.1759C>G (p.Leu587Val)
c.1726C>G (p.Leu576Val)
c.*1745C>G (n.*1745C>G)
c.*1406C>G (n.*1406C>G)
c.1690C>G (p.Leu564Val)
c.*12C>G (n.*12C>G)
c.454C>G (p.Leu152Val)
c.1795C>G (p.Leu599Val)
1g.53213377C>TCA417875214CPT2c.1759C>T (p.Leu587=)
c.1726C>T (p.Leu576=)
c.*1745C>T (n.*1745C>T)
c.*1406C>T (n.*1406C>T)
c.1690C>T (p.Leu564=)
c.*12C>T (n.*12C>T)
c.454C>T (p.Leu152=)
c.1795C>T (p.Leu599=)
 COSMIC
1g.53213378T>ACA340397602CPT2c.1760T>A (p.Leu587Gln)
c.1727T>A (p.Leu576Gln)
c.*1746T>A (n.*1746T>A)
c.*1407T>A (n.*1407T>A)
c.1691T>A (p.Leu564Gln)
c.*13T>A (n.*13T>A)
c.455T>A (p.Leu152Gln)
c.1796T>A (p.Leu599Gln)
1g.53213378T>CCA340397601CPT2c.1760T>C (p.Leu587Pro)
c.1727T>C (p.Leu576Pro)
c.*1746T>C (n.*1746T>C)
c.*1407T>C (n.*1407T>C)
c.1691T>C (p.Leu564Pro)
c.*13T>C (n.*13T>C)
c.455T>C (p.Leu152Pro)
c.1796T>C (p.Leu599Pro)
1g.53213378T>GCA340397600CPT2c.1760T>G (p.Leu587Arg)
c.1727T>G (p.Leu576Arg)
c.*1746T>G (n.*1746T>G)
c.*1407T>G (n.*1407T>G)
c.1691T>G (p.Leu564Arg)
c.*13T>G (n.*13T>G)
c.455T>G (p.Leu152Arg)
c.1796T>G (p.Leu599Arg)
1g.53213379G>ACA417875215CPT2c.1761G>A (p.Leu587=)
c.1728G>A (p.Leu576=)
c.*1747G>A (n.*1747G>A)
c.*1408G>A (n.*1408G>A)
c.1692G>A (p.Leu564=)
c.*14G>A (n.*14G>A)
c.456G>A (p.Leu152=)
c.1797G>A (p.Leu599=)
 dbSNP
1g.53213379G>CCA417875218CPT2c.1761G>C (p.Leu587=)
c.1728G>C (p.Leu576=)
c.*1747G>C (n.*1747G>C)
c.*1408G>C (n.*1408G>C)
c.1692G>C (p.Leu564=)
c.*14G>C (n.*14G>C)
c.456G>C (p.Leu152=)
c.1797G>C (p.Leu599=)
1g.53213379G=CA1167216323CPT2c.1761G= (p.Leu587=)
c.1728G= (p.Leu576=)
c.*1747G= (n.*1747G=)
c.*1408G= (n.*1408G=)
c.1692G= (p.Leu564=)
c.*14G= (n.*14G=)
c.456G= (p.Leu152=)
c.1797G= (p.Leu599=)
1g.53213379G>TCA417875220CPT2c.1761G>T (p.Leu587=)
c.1728G>T (p.Leu576=)
c.*1747G>T (n.*1747G>T)
c.*1408G>T (n.*1408G>T)
c.1692G>T (p.Leu564=)
c.*14G>T (n.*14G>T)
c.456G>T (p.Leu152=)
c.1797G>T (p.Leu599=)
1g.53213380T>ACA340397603CPT2c.1762T>A (p.Ser588Thr)
c.1729T>A (p.Ser577Thr)
c.*1748T>A (n.*1748T>A)
c.*1409T>A (n.*1409T>A)
c.1693T>A (p.Ser565Thr)
c.*15T>A (n.*15T>A)
c.457T>A (p.Ser153Thr)
c.1798T>A (p.Ser600Thr)
1g.53213380T>CCA340397604CPT2c.1762T>C (p.Ser588Pro)
c.1729T>C (p.Ser577Pro)
c.*1748T>C (n.*1748T>C)
c.*1409T>C (n.*1409T>C)
c.1693T>C (p.Ser565Pro)
c.*15T>C (n.*15T>C)
c.457T>C (p.Ser153Pro)
c.1798T>C (p.Ser600Pro)
1g.53213380T>GCA340397605CPT2c.1762T>G (p.Ser588Ala)
c.1729T>G (p.Ser577Ala)
c.*1748T>G (n.*1748T>G)
c.*1409T>G (n.*1409T>G)
c.1693T>G (p.Ser565Ala)
c.*15T>G (n.*15T>G)
c.457T>G (p.Ser153Ala)
c.1798T>G (p.Ser600Ala)
1g.53213381C>ACA340397606CPT2c.1763C>A (p.Ser588Tyr)
c.1730C>A (p.Ser577Tyr)
c.*1749C>A (n.*1749C>A)
c.*1410C>A (n.*1410C>A)
c.1694C>A (p.Ser565Tyr)
c.*16C>A (n.*16C>A)
c.458C>A (p.Ser153Tyr)
c.1799C>A (p.Ser600Tyr)
1g.53213381C=CA1139897516CPT2c.1763C= (p.Ser588=)
c.1730C= (p.Ser577=)
c.*1749C= (n.*1749C=)
c.*1410C= (n.*1410C=)
c.1694C= (p.Ser565=)
c.*16C= (n.*16C=)
c.458C= (p.Ser153=)
c.1799C= (p.Ser600=)
1g.53213381C>GCA312432CPT2c.1763C>G (p.Ser588Cys)
c.1730C>G (p.Ser577Cys)
c.*1749C>G (n.*1749C>G)
c.*1410C>G (n.*1410C>G)
c.1694C>G (p.Ser565Cys)
c.*16C>G (n.*16C>G)
c.458C>G (p.Ser153Cys)
c.1799C>G (p.Ser600Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213381C>TCA340397607CPT2c.1763C>T (p.Ser588Phe)
c.1730C>T (p.Ser577Phe)
c.*1749C>T (n.*1749C>T)
c.*1410C>T (n.*1410C>T)
c.1694C>T (p.Ser565Phe)
c.*16C>T (n.*16C>T)
c.458C>T (p.Ser153Phe)
c.1799C>T (p.Ser600Phe)
 COSMIC
1g.53213381_53213389delinsCCACGAGCACA1167216324CPT2c.1763_1771delinsCCACGAGCA (p.Ser588=)
c.1730_1738delinsCCACGAGCA (p.Ser577=)
c.*1749_*1757delinsCCACGAGCA (n.*1749_*1757delinsCCACGAGCA)
c.*1410_*1418delinsCCACGAGCA (n.*1410_*1418delinsCCACGAGCA)
c.1694_1702delinsCCACGAGCA (p.Ser565=)
c.*16_*24delinsCCACGAGCA (n.*16_*24delinsCCACGAGCA)
c.458_466delinsCCACGAGCA (p.Ser153=)
c.1799_1807delinsCCACGAGCA (p.Ser600=)
1g.53213382C>ACA417875224CPT2c.1764C>A (p.Ser588=)
c.1731C>A (p.Ser577=)
c.*1750C>A (n.*1750C>A)
c.*1411C>A (n.*1411C>A)
c.1695C>A (p.Ser565=)
c.*17C>A (n.*17C>A)
c.459C>A (p.Ser153=)
c.1800C>A (p.Ser600=)
1g.53213382C=CA1167216325CPT2c.1764C= (p.Ser588=)
c.1731C= (p.Ser577=)
c.*1750C= (n.*1750C=)
c.*1411C= (n.*1411C=)
c.1695C= (p.Ser565=)
c.*17C= (n.*17C=)
c.459C= (p.Ser153=)
c.1800C= (p.Ser600=)
1g.53213382C>GCA417875225CPT2c.1764C>G (p.Ser588=)
c.1731C>G (p.Ser577=)
c.*1750C>G (n.*1750C>G)
c.*1411C>G (n.*1411C>G)
c.1695C>G (p.Ser565=)
c.*17C>G (n.*17C>G)
c.459C>G (p.Ser153=)
c.1800C>G (p.Ser600=)
1g.53213382C>TCA417875227CPT2c.1764C>T (p.Ser588=)
c.1731C>T (p.Ser577=)
c.*1750C>T (n.*1750C>T)
c.*1411C>T (n.*1411C>T)
c.1695C>T (p.Ser565=)
c.*17C>T (n.*17C>T)
c.459C>T (p.Ser153=)
c.1800C>T (p.Ser600=)
 dbSNP
1g.53213385_53213392delCA859270CPT2c.1767_1774del (p.Ser590GlufsTer16)
c.1734_1741del (p.Ser579GlufsTer16)
c.*1753_*1760del (n.*1753_*1760del)
c.*1414_*1421del (n.*1414_*1421del)
c.1698_1705del (p.Ser567GlufsTer16)
c.*20_*27del (n.*20_*27del)
c.462_469del (p.Ser155GlufsTer16)
c.1803_1810del (p.Ser602GlufsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213383A>CCA340397608CPT2c.1765A>C (p.Thr589Pro)
c.1732A>C (p.Thr578Pro)
c.*1751A>C (n.*1751A>C)
c.*1412A>C (n.*1412A>C)
c.1696A>C (p.Thr566Pro)
c.*18A>C (n.*18A>C)
c.460A>C (p.Thr154Pro)
c.1801A>C (p.Thr601Pro)
1g.53213383A>GCA340397609CPT2c.1765A>G (p.Thr589Ala)
c.1732A>G (p.Thr578Ala)
c.*1751A>G (n.*1751A>G)
c.*1412A>G (n.*1412A>G)
c.1696A>G (p.Thr566Ala)
c.*18A>G (n.*18A>G)
c.460A>G (p.Thr154Ala)
c.1801A>G (p.Thr601Ala)
 gnomAD v4
1g.53213383A>TCA340397610CPT2c.1765A>T (p.Thr589Ser)
c.1732A>T (p.Thr578Ser)
c.*1751A>T (n.*1751A>T)
c.*1412A>T (n.*1412A>T)
c.1696A>T (p.Thr566Ser)
c.*18A>T (n.*18A>T)
c.460A>T (p.Thr154Ser)
c.1801A>T (p.Thr601Ser)
1g.53213384C>ACA340397611CPT2c.1766C>A (p.Thr589Lys)
c.1733C>A (p.Thr578Lys)
c.*1752C>A (n.*1752C>A)
c.*1413C>A (n.*1413C>A)
c.1697C>A (p.Thr566Lys)
c.*19C>A (n.*19C>A)
c.461C>A (p.Thr154Lys)
c.1802C>A (p.Thr601Lys)
1g.53213384C=CA1167216327CPT2c.1766C= (p.Thr589=)
c.1733C= (p.Thr578=)
c.*1752C= (n.*1752C=)
c.*1413C= (n.*1413C=)
c.1697C= (p.Thr566=)
c.*19C= (n.*19C=)
c.461C= (p.Thr154=)
c.1802C= (p.Thr601=)
1g.53213384C>GCA340397612CPT2c.1766C>G (p.Thr589Arg)
c.1733C>G (p.Thr578Arg)
c.*1752C>G (n.*1752C>G)
c.*1413C>G (n.*1413C>G)
c.1697C>G (p.Thr566Arg)
c.*19C>G (n.*19C>G)
c.461C>G (p.Thr154Arg)
c.1802C>G (p.Thr601Arg)
1g.53213384C>TCA859271CPT2c.1766C>T (p.Thr589Met)
c.1733C>T (p.Thr578Met)
c.*1752C>T (n.*1752C>T)
c.*1413C>T (n.*1413C>T)
c.1697C>T (p.Thr566Met)
c.*19C>T (n.*19C>T)
c.461C>T (p.Thr154Met)
c.1802C>T (p.Thr601Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213384_53213385delCA913075695CPT2c.1766_1767del (p.Thr589LysfsTer19)
c.1733_1734del (p.Thr578LysfsTer19)
c.*1752_*1753del (n.*1752_*1753del)
c.*1413_*1414del (n.*1413_*1414del)
c.1697_1698del (p.Thr566LysfsTer19)
c.*19_*20del (n.*19_*20del)
c.461_462del (p.Thr154LysfsTer19)
c.1802_1803del (p.Thr601LysfsTer19)
1g.53213384_53213385delinsCGCA1167216328CPT2c.1766_1767delinsCG (p.Thr589=)
c.1733_1734delinsCG (p.Thr578=)
c.*1752_*1753delinsCG (n.*1752_*1753delinsCG)
c.*1413_*1414delinsCG (n.*1413_*1414delinsCG)
c.1697_1698delinsCG (p.Thr566=)
c.*19_*20delinsCG (n.*19_*20delinsCG)
c.461_462delinsCG (p.Thr154=)
c.1802_1803delinsCG (p.Thr601=)
1g.53213384_53213395delinsCGAGCACACTGACA1167216326CPT2c.1766_1777delinsCGAGCACACTGA (p.Thr589=)
c.1733_1744delinsCGAGCACACTGA (p.Thr578=)
c.*1752_*1763delinsCGAGCACACTGA (n.*1752_*1763delinsCGAGCACACTGA)
c.*1413_*1424delinsCGAGCACACTGA (n.*1413_*1424delinsCGAGCACACTGA)
c.1697_1708delinsCGAGCACACTGA (p.Thr566=)
c.*19_*30delinsCGAGCACACTGA (n.*19_*30delinsCGAGCACACTGA)
c.461_472delinsCGAGCACACTGA (p.Thr154=)
c.1802_1813delinsCGAGCACACTGA (p.Thr601=)
1g.53213385delCA658821048CPT2c.1767del (p.Ser590AlafsTer3)
c.1734del (p.Ser579AlafsTer3)
c.*1753del (n.*1753del)
c.*1414del (n.*1414del)
c.1698del (p.Ser567AlafsTer3)
c.*20del (n.*20del)
c.462del (p.Ser155AlafsTer3)
c.1803del (p.Ser602AlafsTer3)
 ClinVar dbSNP
1g.53213385G>ACA145735CPT2c.1767G>A (p.Thr589=)
c.1734G>A (p.Thr578=)
c.*1753G>A (n.*1753G>A)
c.*1414G>A (n.*1414G>A)
c.1698G>A (p.Thr566=)
c.*20G>A (n.*20G>A)
c.462G>A (p.Thr154=)
c.1803G>A (p.Thr601=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213385G>CCA417875234CPT2c.1767G>C (p.Thr589=)
c.1734G>C (p.Thr578=)
c.*1753G>C (n.*1753G>C)
c.*1414G>C (n.*1414G>C)
c.1698G>C (p.Thr566=)
c.*20G>C (n.*20G>C)
c.462G>C (p.Thr154=)
c.1803G>C (p.Thr601=)
1g.53213385G=CA1141049544CPT2c.1767G= (p.Thr589=)
c.1734G= (p.Thr578=)
c.*1753G= (n.*1753G=)
c.*1414G= (n.*1414G=)
c.1698G= (p.Thr566=)
c.*20G= (n.*20G=)
c.462G= (p.Thr154=)
c.1803G= (p.Thr601=)
1g.53213385G>TCA417875235CPT2c.1767G>T (p.Thr589=)
c.1734G>T (p.Thr578=)
c.*1753G>T (n.*1753G>T)
c.*1414G>T (n.*1414G>T)
c.1698G>T (p.Thr566=)
c.*20G>T (n.*20G>T)
c.462G>T (p.Thr154=)
c.1803G>T (p.Thr601=)
1g.53213385_53213395delinsTCA658795468CPT2c.1767_1777delinsT (p.Ser590AlafsTer5)
c.1734_1744delinsT (p.Ser579AlafsTer5)
c.*1753_*1763delinsT (n.*1753_*1763delinsT)
c.*1414_*1424delinsT (n.*1414_*1424delinsT)
c.1698_1708delinsT (p.Ser567AlafsTer5)
c.*20_*30delinsT (n.*20_*30delinsT)
c.462_472delinsT (p.Ser155AlafsTer5)
c.1803_1813delinsT (p.Ser602AlafsTer5)
 ClinVar dbSNP
1g.53213386A>CCA340397613CPT2c.1768A>C (p.Ser590Arg)
c.1735A>C (p.Ser579Arg)
c.*1754A>C (n.*1754A>C)
c.*1415A>C (n.*1415A>C)
c.1699A>C (p.Ser567Arg)
c.*21A>C (n.*21A>C)
c.463A>C (p.Ser155Arg)
c.1804A>C (p.Ser602Arg)
1g.53213386A>GCA340397614CPT2c.1768A>G (p.Ser590Gly)
c.1735A>G (p.Ser579Gly)
c.*1754A>G (n.*1754A>G)
c.*1415A>G (n.*1415A>G)
c.1699A>G (p.Ser567Gly)
c.*21A>G (n.*21A>G)
c.463A>G (p.Ser155Gly)
c.1804A>G (p.Ser602Gly)
1g.53213386A>TCA340397615CPT2c.1768A>T (p.Ser590Cys)
c.1735A>T (p.Ser579Cys)
c.*1754A>T (n.*1754A>T)
c.*1415A>T (n.*1415A>T)
c.1699A>T (p.Ser567Cys)
c.*21A>T (n.*21A>T)
c.463A>T (p.Ser155Cys)
c.1804A>T (p.Ser602Cys)
1g.53213387G>ACA340397616CPT2c.1769G>A (p.Ser590Asn)
c.1736G>A (p.Ser579Asn)
c.*1755G>A (n.*1755G>A)
c.*1416G>A (n.*1416G>A)
c.1700G>A (p.Ser567Asn)
c.*22G>A (n.*22G>A)
c.464G>A (p.Ser155Asn)
c.1805G>A (p.Ser602Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.53213387G>CCA340397617CPT2c.1769G>C (p.Ser590Thr)
c.1736G>C (p.Ser579Thr)
c.*1755G>C (n.*1755G>C)
c.*1416G>C (n.*1416G>C)
c.1700G>C (p.Ser567Thr)
c.*22G>C (n.*22G>C)
c.464G>C (p.Ser155Thr)
c.1805G>C (p.Ser602Thr)
1g.53213387G=CA1167216329CPT2c.1769G= (p.Ser590=)
c.1736G= (p.Ser579=)
c.*1755G= (n.*1755G=)
c.*1416G= (n.*1416G=)
c.1700G= (p.Ser567=)
c.*22G= (n.*22G=)
c.464G= (p.Ser155=)
c.1805G= (p.Ser602=)
1g.53213387G>TCA340397618CPT2c.1769G>T (p.Ser590Ile)
c.1736G>T (p.Ser579Ile)
c.*1755G>T (n.*1755G>T)
c.*1416G>T (n.*1416G>T)
c.1700G>T (p.Ser567Ile)
c.*22G>T (n.*22G>T)
c.464G>T (p.Ser155Ile)
c.1805G>T (p.Ser602Ile)
1g.53213388C>ACA340397619CPT2c.1770C>A (p.Ser590Arg)
c.1737C>A (p.Ser579Arg)
c.*1756C>A (n.*1756C>A)
c.*1417C>A (n.*1417C>A)
c.1701C>A (p.Ser567Arg)
c.*23C>A (n.*23C>A)
c.465C>A (p.Ser155Arg)
c.1806C>A (p.Ser602Arg)
1g.53213388C=CA1149114741CPT2c.1770C= (p.Ser590=)
c.1737C= (p.Ser579=)
c.*1756C= (n.*1756C=)
c.*1417C= (n.*1417C=)
c.1701C= (p.Ser567=)
c.*23C= (n.*23C=)
c.465C= (p.Ser155=)
c.1806C= (p.Ser602=)
1g.53213388C>GCA340397620CPT2c.1770C>G (p.Ser590Arg)
c.1737C>G (p.Ser579Arg)
c.*1756C>G (n.*1756C>G)
c.*1417C>G (n.*1417C>G)
c.1701C>G (p.Ser567Arg)
c.*23C>G (n.*23C>G)
c.465C>G (p.Ser155Arg)
c.1806C>G (p.Ser602Arg)
1g.53213388C>TCA859272CPT2c.1770C>T (p.Ser590=)
c.1737C>T (p.Ser579=)
c.*1756C>T (n.*1756C>T)
c.*1417C>T (n.*1417C>T)
c.1701C>T (p.Ser567=)
c.*23C>T (n.*23C>T)
c.465C>T (p.Ser155=)
c.1806C>T (p.Ser602=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213389A>CCA340397621CPT2c.1771A>C (p.Thr591Pro)
c.1738A>C (p.Thr580Pro)
c.*1757A>C (n.*1757A>C)
c.*1418A>C (n.*1418A>C)
c.1702A>C (p.Thr568Pro)
c.*24A>C (n.*24A>C)
c.466A>C (p.Thr156Pro)
c.1807A>C (p.Thr603Pro)
1g.53213389A>GCA340397622CPT2c.1771A>G (p.Thr591Ala)
c.1738A>G (p.Thr580Ala)
c.*1757A>G (n.*1757A>G)
c.*1418A>G (n.*1418A>G)
c.1702A>G (p.Thr568Ala)
c.*24A>G (n.*24A>G)
c.466A>G (p.Thr156Ala)
c.1807A>G (p.Thr603Ala)
1g.53213389A>TCA340397623CPT2c.1771A>T (p.Thr591Ser)
c.1738A>T (p.Thr580Ser)
c.*1757A>T (n.*1757A>T)
c.*1418A>T (n.*1418A>T)
c.1702A>T (p.Thr568Ser)
c.*24A>T (n.*24A>T)
c.466A>T (p.Thr156Ser)
c.1807A>T (p.Thr603Ser)
1g.53213390C>ACA340397624CPT2c.1772C>A (p.Thr591Lys)
c.1739C>A (p.Thr580Lys)
c.*1758C>A (n.*1758C>A)
c.*1419C>A (n.*1419C>A)
c.1703C>A (p.Thr568Lys)
c.*25C>A (n.*25C>A)
c.467C>A (p.Thr156Lys)
c.1808C>A (p.Thr603Lys)
1g.53213390C=CA1167216330CPT2c.1772C= (p.Thr591=)
c.1739C= (p.Thr580=)
c.*1758C= (n.*1758C=)
c.*1419C= (n.*1419C=)
c.1703C= (p.Thr568=)
c.*25C= (n.*25C=)
c.467C= (p.Thr156=)
c.1808C= (p.Thr603=)
1g.53213390C>GCA340397625CPT2c.1772C>G (p.Thr591Arg)
c.1739C>G (p.Thr580Arg)
c.*1758C>G (n.*1758C>G)
c.*1419C>G (n.*1419C>G)
c.1703C>G (p.Thr568Arg)
c.*25C>G (n.*25C>G)
c.467C>G (p.Thr156Arg)
c.1808C>G (p.Thr603Arg)
1g.53213390C>TCA859273CPT2c.1772C>T (p.Thr591Ile)
c.1739C>T (p.Thr580Ile)
c.*1758C>T (n.*1758C>T)
c.*1419C>T (n.*1419C>T)
c.1703C>T (p.Thr568Ile)
c.*25C>T (n.*25C>T)
c.467C>T (p.Thr156Ile)
c.1808C>T (p.Thr603Ile)
 dbSNP ExAC
1g.53213391A=CA1167216332CPT2c.1773A= (p.Thr591=)
c.1740A= (p.Thr580=)
c.*1759A= (n.*1759A=)
c.*1420A= (n.*1420A=)
c.1704A= (p.Thr568=)
c.*26A= (n.*26A=)
c.468A= (p.Thr156=)
c.1809A= (p.Thr603=)
1g.53213391A>CCA417875248CPT2c.1773A>C (p.Thr591=)
c.1740A>C (p.Thr580=)
c.*1759A>C (n.*1759A>C)
c.*1420A>C (n.*1420A>C)
c.1704A>C (p.Thr568=)
c.*26A>C (n.*26A>C)
c.468A>C (p.Thr156=)
c.1809A>C (p.Thr603=)
1g.53213391A>GCA417875247CPT2c.1773A>G (p.Thr591=)
c.1740A>G (p.Thr580=)
c.*1759A>G (n.*1759A>G)
c.*1420A>G (n.*1420A>G)
c.1704A>G (p.Thr568=)
c.*26A>G (n.*26A>G)
c.468A>G (p.Thr156=)
c.1809A>G (p.Thr603=)
 dbSNP
1g.53213391A>TCA417875246CPT2c.1773A>T (p.Thr591=)
c.1740A>T (p.Thr580=)
c.*1759A>T (n.*1759A>T)
c.*1420A>T (n.*1420A>T)
c.1704A>T (p.Thr568=)
c.*26A>T (n.*26A>T)
c.468A>T (p.Thr156=)
c.1809A>T (p.Thr603=)
 ClinVar dbSNP
1g.53213391_53213393delinsACTCA1167216331CPT2c.1773_1775delinsACT (p.Thr591=)
c.1740_1742delinsACT (p.Thr580=)
c.*1759_*1761delinsACT (n.*1759_*1761delinsACT)
c.*1420_*1422delinsACT (n.*1420_*1422delinsACT)
c.1704_1706delinsACT (p.Thr568=)
c.*26_*28delinsACT (n.*26_*28delinsACT)
c.468_470delinsACT (p.Thr156=)
c.1809_1811delinsACT (p.Thr603=)
1g.53213392C>ACA340397626CPT2c.1774C>A (p.Leu592Met)
c.1741C>A (p.Leu581Met)
c.*1760C>A (n.*1760C>A)
c.*1421C>A (n.*1421C>A)
c.1705C>A (p.Leu569Met)
c.*27C>A (n.*27C>A)
c.469C>A (p.Leu157Met)
c.1810C>A (p.Leu604Met)
1g.53213392C>GCA340397627CPT2c.1774C>G (p.Leu592Val)
c.1741C>G (p.Leu581Val)
c.*1760C>G (n.*1760C>G)
c.*1421C>G (n.*1421C>G)
c.1705C>G (p.Leu569Val)
c.*27C>G (n.*27C>G)
c.469C>G (p.Leu157Val)
c.1810C>G (p.Leu604Val)
1g.53213392C>TCA417875249CPT2c.1774C>T (p.Leu592=)
c.1741C>T (p.Leu581=)
c.*1760C>T (n.*1760C>T)
c.*1421C>T (n.*1421C>T)
c.1705C>T (p.Leu569=)
c.*27C>T (n.*27C>T)
c.469C>T (p.Leu157=)
c.1810C>T (p.Leu604=)
1g.53213392_53213393delCA859274CPT2c.1774_1775del (p.Leu592GlufsTer16)
c.1741_1742del (p.Leu581GlufsTer16)
c.*1760_*1761del (n.*1760_*1761del)
c.*1421_*1422del (n.*1421_*1422del)
c.1705_1706del (p.Leu569GlufsTer16)
c.*27_*28del (n.*27_*28del)
c.469_470del (p.Leu157GlufsTer16)
c.1810_1811del (p.Leu604GlufsTer16)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213393T>ACA340397628CPT2c.1775T>A (p.Leu592Gln)
c.1742T>A (p.Leu581Gln)
c.*1761T>A (n.*1761T>A)
c.*1422T>A (n.*1422T>A)
c.1706T>A (p.Leu569Gln)
c.*28T>A (n.*28T>A)
c.470T>A (p.Leu157Gln)
c.1811T>A (p.Leu604Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.53213393T>CCA340397629CPT2c.1775T>C (p.Leu592Pro)
c.1742T>C (p.Leu581Pro)
c.*1761T>C (n.*1761T>C)
c.*1422T>C (n.*1422T>C)
c.1706T>C (p.Leu569Pro)
c.*28T>C (n.*28T>C)
c.470T>C (p.Leu157Pro)
c.1811T>C (p.Leu604Pro)
 dbSNP
1g.53213393T>GCA340397630CPT2c.1775T>G (p.Leu592Arg)
c.1742T>G (p.Leu581Arg)
c.*1761T>G (n.*1761T>G)
c.*1422T>G (n.*1422T>G)
c.1706T>G (p.Leu569Arg)
c.*28T>G (n.*28T>G)
c.470T>G (p.Leu157Arg)
c.1811T>G (p.Leu604Arg)
1g.53213393T=CA1167216334CPT2c.1775T= (p.Leu592=)
c.1742T= (p.Leu581=)
c.*1761T= (n.*1761T=)
c.*1422T= (n.*1422T=)
c.1706T= (p.Leu569=)
c.*28T= (n.*28T=)
c.470T= (p.Leu157=)
c.1811T= (p.Leu604=)
1g.53213393_53213395delinsTGACA1167216333CPT2c.1775_1777delinsTGA (p.Leu592=)
c.1742_1744delinsTGA (p.Leu581=)
c.*1761_*1763delinsTGA (n.*1761_*1763delinsTGA)
c.*1422_*1424delinsTGA (n.*1422_*1424delinsTGA)
c.1706_1708delinsTGA (p.Leu569=)
c.*28_*30delinsTGA (n.*28_*30delinsTGA)
c.470_472delinsTGA (p.Leu157=)
c.1811_1813delinsTGA (p.Leu604=)
1g.53213394G>ACA859276CPT2c.1776G>A (p.Leu592=)
c.1743G>A (p.Leu581=)
c.*1762G>A (n.*1762G>A)
c.*1423G>A (n.*1423G>A)
c.1707G>A (p.Leu569=)
c.*29G>A (n.*29G>A)
c.471G>A (p.Leu157=)
c.1812G>A (p.Leu604=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213394G>CCA417875251CPT2c.1776G>C (p.Leu592=)
c.1743G>C (p.Leu581=)
c.*1762G>C (n.*1762G>C)
c.*1423G>C (n.*1423G>C)
c.1707G>C (p.Leu569=)
c.*29G>C (n.*29G>C)
c.471G>C (p.Leu157=)
c.1812G>C (p.Leu604=)
1g.53213394G=CA1141786218CPT2c.1776G= (p.Leu592=)
c.1743G= (p.Leu581=)
c.*1762G= (n.*1762G=)
c.*1423G= (n.*1423G=)
c.1707G= (p.Leu569=)
c.*29G= (n.*29G=)
c.471G= (p.Leu157=)
c.1812G= (p.Leu604=)
1g.53213394G>TCA417875252CPT2c.1776G>T (p.Leu592=)
c.1743G>T (p.Leu581=)
c.*1762G>T (n.*1762G>T)
c.*1423G>T (n.*1423G>T)
c.1707G>T (p.Leu569=)
c.*29G>T (n.*29G>T)
c.471G>T (p.Leu157=)
c.1812G>T (p.Leu604=)
1g.53213395_53213396delCA859275CPT2c.1777_1778del (p.Ser593GlnfsTer15)
c.1744_1745del (p.Ser582GlnfsTer15)
c.*1763_*1764del (n.*1763_*1764del)
c.*1424_*1425del (n.*1424_*1425del)
c.1708_1709del (p.Ser570GlnfsTer15)
c.*30_*31del (n.*30_*31del)
c.472_473del (p.Ser158GlnfsTer15)
c.1813_1814del (p.Ser605GlnfsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213395A>CCA340397631CPT2c.1777A>C (p.Ser593Arg)
c.1744A>C (p.Ser582Arg)
c.*1763A>C (n.*1763A>C)
c.*1424A>C (n.*1424A>C)
c.1708A>C (p.Ser570Arg)
c.*30A>C (n.*30A>C)
c.472A>C (p.Ser158Arg)
c.1813A>C (p.Ser605Arg)
1g.53213395A>GCA340397632CPT2c.1777A>G (p.Ser593Gly)
c.1744A>G (p.Ser582Gly)
c.*1763A>G (n.*1763A>G)
c.*1424A>G (n.*1424A>G)
c.1708A>G (p.Ser570Gly)
c.*30A>G (n.*30A>G)
c.472A>G (p.Ser158Gly)
c.1813A>G (p.Ser605Gly)
1g.53213395A>TCA340397633CPT2c.1777A>T (p.Ser593Cys)
c.1744A>T (p.Ser582Cys)
c.*1763A>T (n.*1763A>T)
c.*1424A>T (n.*1424A>T)
c.1708A>T (p.Ser570Cys)
c.*30A>T (n.*30A>T)
c.472A>T (p.Ser158Cys)
c.1813A>T (p.Ser605Cys)
1g.53213396G>ACA340397634CPT2c.1778G>A (p.Ser593Asn)
c.1745G>A (p.Ser582Asn)
c.*1764G>A (n.*1764G>A)
c.*1425G>A (n.*1425G>A)
c.1709G>A (p.Ser570Asn)
c.*31G>A (n.*31G>A)
c.473G>A (p.Ser158Asn)
c.1814G>A (p.Ser605Asn)
 gnomAD v4
1g.53213396G>CCA340397635CPT2c.1778G>C (p.Ser593Thr)
c.1745G>C (p.Ser582Thr)
c.*1764G>C (n.*1764G>C)
c.*1425G>C (n.*1425G>C)
c.1709G>C (p.Ser570Thr)
c.*31G>C (n.*31G>C)
c.473G>C (p.Ser158Thr)
c.1814G>C (p.Ser605Thr)
1g.53213396G>TCA340397636CPT2c.1778G>T (p.Ser593Ile)
c.1745G>T (p.Ser582Ile)
c.*1764G>T (n.*1764G>T)
c.*1425G>T (n.*1425G>T)
c.1709G>T (p.Ser570Ile)
c.*31G>T (n.*31G>T)
c.473G>T (p.Ser158Ile)
c.1814G>T (p.Ser605Ile)
1g.53213397C>ACA340397637CPT2c.1779C>A (p.Ser593Arg)
c.1746C>A (p.Ser582Arg)
c.*1765C>A (n.*1765C>A)
c.*1426C>A (n.*1426C>A)
c.1710C>A (p.Ser570Arg)
c.*32C>A (n.*32C>A)
c.474C>A (p.Ser158Arg)
c.1815C>A (p.Ser605Arg)
 gnomAD v4
1g.53213397C=CA1148886657CPT2c.1779C= (p.Ser593=)
c.1746C= (p.Ser582=)
c.*1765C= (n.*1765C=)
c.*1426C= (n.*1426C=)
c.1710C= (p.Ser570=)
c.*32C= (n.*32C=)
c.474C= (p.Ser158=)
c.1815C= (p.Ser605=)
1g.53213397C>GCA859277CPT2c.1779C>G (p.Ser593Arg)
c.1746C>G (p.Ser582Arg)
c.*1765C>G (n.*1765C>G)
c.*1426C>G (n.*1426C>G)
c.1710C>G (p.Ser570Arg)
c.*32C>G (n.*32C>G)
c.474C>G (p.Ser158Arg)
c.1815C>G (p.Ser605Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213397C>TCA859278CPT2c.1779C>T (p.Ser593=)
c.1746C>T (p.Ser582=)
c.*1765C>T (n.*1765C>T)
c.*1426C>T (n.*1426C>T)
c.1710C>T (p.Ser570=)
c.*32C>T (n.*32C>T)
c.474C>T (p.Ser158=)
c.1815C>T (p.Ser605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.53213398A=CA1167216335CPT2c.1780A= (p.Ser594=)
c.1747A= (p.Ser583=)
c.*1766A= (n.*1766A=)
c.*1427A= (n.*1427A=)
c.1711A= (p.Ser571=)
c.*33A= (n.*33A=)
c.475A= (p.Ser159=)
c.1816A= (p.Ser606=)
1g.53213398A>CCA340397638CPT2c.1780A>C (p.Ser594Arg)
c.1747A>C (p.Ser583Arg)
c.*1766A>C (n.*1766A>C)
c.*1427A>C (n.*1427A>C)
c.1711A>C (p.Ser571Arg)
c.*33A>C (n.*33A>C)
c.475A>C (p.Ser159Arg)
c.1816A>C (p.Ser606Arg)
1g.53213398A>GCA859279CPT2c.1780A>G (p.Ser594Gly)
c.1747A>G (p.Ser583Gly)
c.*1766A>G (n.*1766A>G)
c.*1427A>G (n.*1427A>G)
c.1711A>G (p.Ser571Gly)
c.*33A>G (n.*33A>G)
c.475A>G (p.Ser159Gly)
c.1816A>G (p.Ser606Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213398A>TCA340397639CPT2c.1780A>T (p.Ser594Cys)
c.1747A>T (p.Ser583Cys)
c.*1766A>T (n.*1766A>T)
c.*1427A>T (n.*1427A>T)
c.1711A>T (p.Ser571Cys)
c.*33A>T (n.*33A>T)
c.475A>T (p.Ser159Cys)
c.1816A>T (p.Ser606Cys)
1g.53213399G>ACA340397640CPT2c.1781G>A (p.Ser594Asn)
c.1748G>A (p.Ser583Asn)
c.*1767G>A (n.*1767G>A)
c.*1428G>A (n.*1428G>A)
c.1712G>A (p.Ser571Asn)
c.*34G>A (n.*34G>A)
c.476G>A (p.Ser159Asn)
c.1817G>A (p.Ser606Asn)
 gnomAD v4
1g.53213399G>CCA340397641CPT2c.1781G>C (p.Ser594Thr)
c.1748G>C (p.Ser583Thr)
c.*1767G>C (n.*1767G>C)
c.*1428G>C (n.*1428G>C)
c.1712G>C (p.Ser571Thr)
c.*34G>C (n.*34G>C)
c.476G>C (p.Ser159Thr)
c.1817G>C (p.Ser606Thr)
1g.53213399G>TCA340397642CPT2c.1781G>T (p.Ser594Ile)
c.1748G>T (p.Ser583Ile)
c.*1767G>T (n.*1767G>T)
c.*1428G>T (n.*1428G>T)
c.1712G>T (p.Ser571Ile)
c.*34G>T (n.*34G>T)
c.476G>T (p.Ser159Ile)
c.1817G>T (p.Ser606Ile)
1g.53213399_53213400delinsGCCA1167216336CPT2c.1781_1782delinsGC (p.Ser594=)
c.1748_1749delinsGC (p.Ser583=)
c.*1767_*1768delinsGC (n.*1767_*1768delinsGC)
c.*1428_*1429delinsGC (n.*1428_*1429delinsGC)
c.1712_1713delinsGC (p.Ser571=)
c.*34_*35delinsGC (n.*34_*35delinsGC)
c.476_477delinsGC (p.Ser159=)
c.1817_1818delinsGC (p.Ser606=)
1g.53213400C>ACA340397643CPT2c.1782C>A (p.Ser594Arg)
c.1749C>A (p.Ser583Arg)
c.*1768C>A (n.*1768C>A)
c.*1429C>A (n.*1429C>A)
c.1713C>A (p.Ser571Arg)
c.*35C>A (n.*35C>A)
c.477C>A (p.Ser159Arg)
c.1818C>A (p.Ser606Arg)
1g.53213400C>GCA340397644CPT2c.1782C>G (p.Ser594Arg)
c.1749C>G (p.Ser583Arg)
c.*1768C>G (n.*1768C>G)
c.*1429C>G (n.*1429C>G)
c.1713C>G (p.Ser571Arg)
c.*35C>G (n.*35C>G)
c.477C>G (p.Ser159Arg)
c.1818C>G (p.Ser606Arg)
1g.53213400C>TCA417875266CPT2c.1782C>T (p.Ser594=)
c.1749C>T (p.Ser583=)
c.*1768C>T (n.*1768C>T)
c.*1429C>T (n.*1429C>T)
c.1713C>T (p.Ser571=)
c.*35C>T (n.*35C>T)
c.477C>T (p.Ser159=)
c.1818C>T (p.Ser606=)
1g.53213402delCA859280CPT2c.1784del (p.Pro595GlnfsTer3)
c.1751del (p.Pro584GlnfsTer3)
c.*1770del (n.*1770del)
c.*1431del (n.*1431del)
c.1715del (p.Pro572GlnfsTer3)
c.*37del (n.*37del)
c.479del (p.Pro160GlnfsTer3)
c.1820del (p.Pro607GlnfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.53213401C>ACA340397645CPT2c.1783C>A (p.Pro595Thr)
c.1750C>A (p.Pro584Thr)
c.*1769C>A (n.*1769C>A)
c.*1430C>A (n.*1430C>A)
c.1714C>A (p.Pro572Thr)
c.*36C>A (n.*36C>A)
c.478C>A (p.Pro160Thr)
c.1819C>A (p.Pro607Thr)
1g.53213401C=CA1167216337CPT2c.1783C= (p.Pro595=)
c.1750C= (p.Pro584=)
c.*1769C= (n.*1769C=)
c.*1430C= (n.*1430C=)
c.1714C= (p.Pro572=)
c.*36C= (n.*36C=)
c.478C= (p.Pro160=)
c.1819C= (p.Pro607=)
1g.53213401C>GCA340397646CPT2c.1783C>G (p.Pro595Ala)
c.1750C>G (p.Pro584Ala)
c.*1769C>G (n.*1769C>G)
c.*1430C>G (n.*1430C>G)
c.1714C>G (p.Pro572Ala)
c.*36C>G (n.*36C>G)
c.478C>G (p.Pro160Ala)
c.1819C>G (p.Pro607Ala)
1g.53213401C>TCA340397647CPT2c.1783C>T (p.Pro595Ser)
c.1750C>T (p.Pro584Ser)
c.*1769C>T (n.*1769C>T)
c.*1430C>T (n.*1430C>T)
c.1714C>T (p.Pro572Ser)
c.*36C>T (n.*36C>T)
c.478C>T (p.Pro160Ser)
c.1819C>T (p.Pro607Ser)
 ClinVar dbSNP gnomAD v4
1g.53213402C>ACA340397648CPT2c.1784C>A (p.Pro595Gln)
c.1751C>A (p.Pro584Gln)
c.*1770C>A (n.*1770C>A)
c.*1431C>A (n.*1431C>A)
c.1715C>A (p.Pro572Gln)
c.*37C>A (n.*37C>A)
c.479C>A (p.Pro160Gln)
c.1820C>A (p.Pro607Gln)
1g.53213402C>GCA340397650CPT2c.1784C>G (p.Pro595Arg)
c.1751C>G (p.Pro584Arg)
c.*1770C>G (n.*1770C>G)
c.*1431C>G (n.*1431C>G)
c.1715C>G (p.Pro572Arg)
c.*37C>G (n.*37C>G)
c.479C>G (p.Pro160Arg)
c.1820C>G (p.Pro607Arg)
1g.53213402C>TCA340397649CPT2c.1784C>T (p.Pro595Leu)
c.1751C>T (p.Pro584Leu)
c.*1770C>T (n.*1770C>T)
c.*1431C>T (n.*1431C>T)
c.1715C>T (p.Pro572Leu)
c.*37C>T (n.*37C>T)
c.479C>T (p.Pro160Leu)
c.1820C>T (p.Pro607Leu)
1g.53213403A>CCA417875269CPT2c.1785A>C (p.Pro595=)
c.1752A>C (p.Pro584=)
c.*1771A>C (n.*1771A>C)
c.*1432A>C (n.*1432A>C)
c.1716A>C (p.Pro572=)
c.*38A>C (n.*38A>C)
c.480A>C (p.Pro160=)
c.1821A>C (p.Pro607=)
1g.53213403A>GCA417875270CPT2c.1785A>G (p.Pro595=)
c.1752A>G (p.Pro584=)
c.*1771A>G (n.*1771A>G)
c.*1432A>G (n.*1432A>G)
c.1716A>G (p.Pro572=)
c.*38A>G (n.*38A>G)
c.480A>G (p.Pro160=)
c.1821A>G (p.Pro607=)
1g.53213403A>TCA417875271CPT2c.1785A>T (p.Pro595=)
c.1752A>T (p.Pro584=)
c.*1771A>T (n.*1771A>T)
c.*1432A>T (n.*1432A>T)
c.1716A>T (p.Pro572=)
c.*38A>T (n.*38A>T)
c.480A>T (p.Pro160=)
c.1821A>T (p.Pro607=)
1g.53213404G>ACA340397651CPT2c.1786G>A (p.Ala596Thr)
c.1753G>A (p.Ala585Thr)
c.*1772G>A (n.*1772G>A)
c.*1433G>A (n.*1433G>A)
c.1717G>A (p.Ala573Thr)
c.*39G>A (n.*39G>A)
c.481G>A (p.Ala161Thr)
c.1822G>A (p.Ala608Thr)
 ClinVar gnomAD v4
1g.53213404G>CCA340397652CPT2c.1786G>C (p.Ala596Pro)
c.1753G>C (p.Ala585Pro)
c.*1772G>C (n.*1772G>C)
c.*1433G>C (n.*1433G>C)
c.1717G>C (p.Ala573Pro)
c.*39G>C (n.*39G>C)
c.481G>C (p.Ala161Pro)
c.1822G>C (p.Ala608Pro)
1g.53213404G>TCA340397653CPT2c.1786G>T (p.Ala596Ser)
c.1753G>T (p.Ala585Ser)
c.*1772G>T (n.*1772G>T)
c.*1433G>T (n.*1433G>T)
c.1717G>T (p.Ala573Ser)
c.*39G>T (n.*39G>T)
c.481G>T (p.Ala161Ser)
c.1822G>T (p.Ala608Ser)
1g.53213405C>ACA340397654CPT2c.1787C>A (p.Ala596Glu)
c.1754C>A (p.Ala585Glu)
c.*1773C>A (n.*1773C>A)
c.*1434C>A (n.*1434C>A)
c.1718C>A (p.Ala573Glu)
c.*40C>A (n.*40C>A)
c.482C>A (p.Ala161Glu)
c.1823C>A (p.Ala608Glu)
1g.53213405C>GCA340397655CPT2c.1787C>G (p.Ala596Gly)
c.1754C>G (p.Ala585Gly)
c.*1773C>G (n.*1773C>G)
c.*1434C>G (n.*1434C>G)
c.1718C>G (p.Ala573Gly)
c.*40C>G (n.*40C>G)
c.482C>G (p.Ala161Gly)
c.1823C>G (p.Ala608Gly)
1g.53213405C>TCA340397656CPT2c.1787C>T (p.Ala596Val)
c.1754C>T (p.Ala585Val)
c.*1773C>T (n.*1773C>T)
c.*1434C>T (n.*1434C>T)
c.1718C>T (p.Ala573Val)
c.*40C>T (n.*40C>T)
c.482C>T (p.Ala161Val)
c.1823C>T (p.Ala608Val)
 COSMIC
1g.53213406A=CA1167216338CPT2c.1788A= (p.Ala596=)
c.1755A= (p.Ala585=)
c.*1774A= (n.*1774A=)
c.*1435A= (n.*1435A=)
c.1719A= (p.Ala573=)
c.*41A= (n.*41A=)
c.483A= (p.Ala161=)
c.1824A= (p.Ala608=)
1g.53213406A>CCA417875274CPT2c.1788A>C (p.Ala596=)
c.1755A>C (p.Ala585=)
c.*1774A>C (n.*1774A>C)
c.*1435A>C (n.*1435A>C)
c.1719A>C (p.Ala573=)
c.*41A>C (n.*41A>C)
c.483A>C (p.Ala161=)
c.1824A>C (p.Ala608=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.53213406A>GCA417875276CPT2c.1788A>G (p.Ala596=)
c.1755A>G (p.Ala585=)
c.*1774A>G (n.*1774A>G)
c.*1435A>G (n.*1435A>G)
c.1719A>G (p.Ala573=)
c.*41A>G (n.*41A>G)
c.483A>G (p.Ala161=)
c.1824A>G (p.Ala608=)
 dbSNP
1g.53213406A>TCA417875275CPT2c.1788A>T (p.Ala596=)
c.1755A>T (p.Ala585=)
c.*1774A>T (n.*1774A>T)
c.*1435A>T (n.*1435A>T)
c.1719A>T (p.Ala573=)
c.*41A>T (n.*41A>T)
c.483A>T (p.Ala161=)
c.1824A>T (p.Ala608=)
1g.53213407G>ACA340397657CPT2c.1789G>A (p.Val597Met)
c.1756G>A (p.Val586Met)
c.*1775G>A (n.*1775G>A)
c.*1436G>A (n.*1436G>A)
c.1720G>A (p.Val574Met)
c.*42G>A (n.*42G>A)
c.484G>A (p.Val162Met)
c.1825G>A (p.Val609Met)
1g.53213407G>CCA312434CPT2c.1789G>C (p.Val597Leu)
c.1756G>C (p.Val586Leu)
c.*1775G>C (n.*1775G>C)
c.*1436G>C (n.*1436G>C)
c.1720G>C (p.Val574Leu)
c.*42G>C (n.*42G>C)
c.484G>C (p.Val162Leu)
c.1825G>C (p.Val609Leu)
 dbSNP
1g.53213407G=CA1167216339CPT2c.1789G= (p.Val597=)
c.1756G= (p.Val586=)
c.*1775G= (n.*1775G=)
c.*1436G= (n.*1436G=)
c.1720G= (p.Val574=)
c.*42G= (n.*42G=)
c.484G= (p.Val162=)
c.1825G= (p.Val609=)
1g.53213407G>TCA340397658CPT2c.1789G>T (p.Val597Leu)
c.1756G>T (p.Val586Leu)
c.*1775G>T (n.*1775G>T)
c.*1436G>T (n.*1436G>T)
c.1720G>T (p.Val574Leu)
c.*42G>T (n.*42G>T)
c.484G>T (p.Val162Leu)
c.1825G>T (p.Val609Leu)
1g.53213408T>ACA340397659CPT2c.1790T>A (p.Val597Glu)
c.1757T>A (p.Val586Glu)
c.*1776T>A (n.*1776T>A)
c.*1437T>A (n.*1437T>A)
c.1721T>A (p.Val574Glu)
c.*43T>A (n.*43T>A)
c.485T>A (p.Val162Glu)
c.1826T>A (p.Val609Glu)
1g.53213408T>CCA340397660CPT2c.1790T>C (p.Val597Ala)
c.1757T>C (p.Val586Ala)
c.*1776T>C (n.*1776T>C)
c.*1437T>C (n.*1437T>C)
c.1721T>C (p.Val574Ala)
c.*43T>C (n.*43T>C)
c.485T>C (p.Val162Ala)
c.1826T>C (p.Val609Ala)
1g.53213408T>GCA340397661CPT2c.1790T>G (p.Val597Gly)
c.1757T>G (p.Val586Gly)
c.*1776T>G (n.*1776T>G)
c.*1437T>G (n.*1437T>G)
c.1721T>G (p.Val574Gly)
c.*43T>G (n.*43T>G)
c.485T>G (p.Val162Gly)
c.1826T>G (p.Val609Gly)

Number of alleles fetched