Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155294534_155294558delCA2648269318PKLRc.890_914del (p.Val297AspfsTer16)
c.797_821del (p.Val266AspfsTer16)
c.1049_1073del (p.Val350AspfsTer16)
c.698_722del (p.Val233AspfsTer16)
 gnomAD v4
1g.155294558C>ACA342754003PKLRc.889G>T (p.Val297Phe)
c.796G>T (p.Val266Phe)
c.1048G>T (p.Val350Phe)
c.697G>T (p.Val233Phe)
 COSMIC
1g.155294558C=CA1142240281PKLRc.889G= (p.Val297=)
c.796G= (p.Val266=)
c.1048G= (p.Val350=)
c.697G= (p.Val233=)
1g.155294558C>GCA1144187PKLRc.889G>C (p.Val297Leu)
c.796G>C (p.Val266Leu)
c.1048G>C (p.Val350Leu)
c.697G>C (p.Val233Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294558C>TCA1144186PKLRc.889G>A (p.Val297Ile)
c.796G>A (p.Val266Ile)
c.1048G>A (p.Val350Ile)
c.697G>A (p.Val233Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294559G>ACA421245566PKLRc.888C>T (p.Ala296=)
c.795C>T (p.Ala265=)
c.1047C>T (p.Ala349=)
c.696C>T (p.Ala232=)
 gnomAD v4
1g.155294559G>CCA421245567PKLRc.888C>G (p.Ala296=)
c.795C>G (p.Ala265=)
c.1047C>G (p.Ala349=)
c.696C>G (p.Ala232=)
1g.155294559G>TCA421245568PKLRc.888C>A (p.Ala296=)
c.795C>A (p.Ala265=)
c.1047C>A (p.Ala349=)
c.696C>A (p.Ala232=)
 gnomAD v4 COSMIC
1g.155294560G>ACA342754009PKLRc.887C>T (p.Ala296Val)
c.794C>T (p.Ala265Val)
c.1046C>T (p.Ala349Val)
c.695C>T (p.Ala232Val)
1g.155294560G>CCA342754010PKLRc.887C>G (p.Ala296Gly)
c.794C>G (p.Ala265Gly)
c.1046C>G (p.Ala349Gly)
c.695C>G (p.Ala232Gly)
1g.155294560G=CA1200112208PKLRc.887C= (p.Ala296=)
c.794C= (p.Ala265=)
c.1046C= (p.Ala349=)
c.695C= (p.Ala232=)
1g.155294560G>TCA342754013PKLRc.887C>A (p.Ala296Asp)
c.794C>A (p.Ala265Asp)
c.1046C>A (p.Ala349Asp)
c.695C>A (p.Ala232Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.155294561C>ACA342754015PKLRc.886G>T (p.Ala296Ser)
c.793G>T (p.Ala265Ser)
c.1045G>T (p.Ala349Ser)
c.694G>T (p.Ala232Ser)
1g.155294561C>GCA342754017PKLRc.886G>C (p.Ala296Pro)
c.793G>C (p.Ala265Pro)
c.1045G>C (p.Ala349Pro)
c.694G>C (p.Ala232Pro)
1g.155294561C>TCA342754019PKLRc.886G>A (p.Ala296Thr)
c.793G>A (p.Ala265Thr)
c.1045G>A (p.Ala349Thr)
c.694G>A (p.Ala232Thr)
1g.155294562A>CCA421245572PKLRc.885T>G (p.Ala295=)
c.792T>G (p.Ala264=)
c.1044T>G (p.Ala348=)
c.693T>G (p.Ala231=)
1g.155294562A>GCA421245573PKLRc.885T>C (p.Ala295=)
c.792T>C (p.Ala264=)
c.1044T>C (p.Ala348=)
c.693T>C (p.Ala231=)
1g.155294562A>TCA421245574PKLRc.885T>A (p.Ala295=)
c.792T>A (p.Ala264=)
c.1044T>A (p.Ala348=)
c.693T>A (p.Ala231=)
 gnomAD v4
1g.155294563G>ACA1144188PKLRc.884C>T (p.Ala295Val)
c.791C>T (p.Ala264Val)
c.1043C>T (p.Ala348Val)
c.692C>T (p.Ala231Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294563G>CCA342754021PKLRc.884C>G (p.Ala295Gly)
c.791C>G (p.Ala264Gly)
c.1043C>G (p.Ala348Gly)
c.692C>G (p.Ala231Gly)
1g.155294563G=CA1200112209PKLRc.884C= (p.Ala295=)
c.791C= (p.Ala264=)
c.1043C= (p.Ala348=)
c.692C= (p.Ala231=)
1g.155294563G>TCA342754023PKLRc.884C>A (p.Ala295Asp)
c.791C>A (p.Ala264Asp)
c.1043C>A (p.Ala348Asp)
c.692C>A (p.Ala231Asp)
1g.155294564C>ACA342754026PKLRc.883G>T (p.Ala295Ser)
c.790G>T (p.Ala264Ser)
c.1042G>T (p.Ala348Ser)
c.691G>T (p.Ala231Ser)
1g.155294564C=CA1200112210PKLRc.883G= (p.Ala295=)
c.790G= (p.Ala264=)
c.1042G= (p.Ala348=)
c.691G= (p.Ala231=)
1g.155294564C>GCA342754029PKLRc.883G>C (p.Ala295Pro)
c.790G>C (p.Ala264Pro)
c.1042G>C (p.Ala348Pro)
c.691G>C (p.Ala231Pro)
1g.155294564C>TCA1144189PKLRc.883G>A (p.Ala295Thr)
c.790G>A (p.Ala264Thr)
c.1042G>A (p.Ala348Thr)
c.691G>A (p.Ala231Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294565C>ACA421245576PKLRc.882G>T (p.Val294=)
c.789G>T (p.Val263=)
c.1041G>T (p.Val347=)
c.690G>T (p.Val230=)
1g.155294565C>GCA421245577PKLRc.882G>C (p.Val294=)
c.789G>C (p.Val263=)
c.1041G>C (p.Val347=)
c.690G>C (p.Val230=)
1g.155294565C>TCA421245579PKLRc.882G>A (p.Val294=)
c.789G>A (p.Val263=)
c.1041G>A (p.Val347=)
c.690G>A (p.Val230=)
1g.155294566A>CCA342754032PKLRc.881T>G (p.Val294Gly)
c.788T>G (p.Val263Gly)
c.1040T>G (p.Val347Gly)
c.689T>G (p.Val230Gly)
1g.155294566A>GCA342754034PKLRc.881T>C (p.Val294Ala)
c.788T>C (p.Val263Ala)
c.1040T>C (p.Val347Ala)
c.689T>C (p.Val230Ala)
1g.155294566A>TCA342754036PKLRc.881T>A (p.Val294Glu)
c.788T>A (p.Val263Glu)
c.1040T>A (p.Val347Glu)
c.689T>A (p.Val230Glu)
1g.155294567C>ACA1144190PKLRc.880G>T (p.Val294Leu)
c.787G>T (p.Val263Leu)
c.1039G>T (p.Val347Leu)
c.688G>T (p.Val230Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294567C=CA1200112211PKLRc.880G= (p.Val294=)
c.787G= (p.Val263=)
c.1039G= (p.Val347=)
c.688G= (p.Val230=)
1g.155294567C>GCA30903252PKLRc.880G>C (p.Val294Leu)
c.787G>C (p.Val263Leu)
c.1039G>C (p.Val347Leu)
c.688G>C (p.Val230Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.155294567C>TCA342754040PKLRc.880G>A (p.Val294Met)
c.787G>A (p.Val263Met)
c.1039G>A (p.Val347Met)
c.688G>A (p.Val230Met)
 gnomAD v4
1g.155294568G>ACA421245581PKLRc.879C>T (p.Asp293=)
c.786C>T (p.Asp262=)
c.1038C>T (p.Asp346=)
c.687C>T (p.Asp229=)
 gnomAD v4
1g.155294568G>CCA342754042PKLRc.879C>G (p.Asp293Glu)
c.786C>G (p.Asp262Glu)
c.1038C>G (p.Asp346Glu)
c.687C>G (p.Asp229Glu)
 ClinVar
1g.155294568G>TCA342754044PKLRc.879C>A (p.Asp293Glu)
c.786C>A (p.Asp262Glu)
c.1038C>A (p.Asp346Glu)
c.687C>A (p.Asp229Glu)
1g.155294569T>ACA342754050PKLRc.878A>T (p.Asp293Val)
c.785A>T (p.Asp262Val)
c.1037A>T (p.Asp346Val)
c.686A>T (p.Asp229Val)
1g.155294569T>CCA342754049PKLRc.878A>G (p.Asp293Gly)
c.785A>G (p.Asp262Gly)
c.1037A>G (p.Asp346Gly)
c.686A>G (p.Asp229Gly)
1g.155294569T>GCA342754046PKLRc.878A>C (p.Asp293Ala)
c.785A>C (p.Asp262Ala)
c.1037A>C (p.Asp346Ala)
c.686A>C (p.Asp229Ala)
1g.155294570C>ACA342754053PKLRc.877G>T (p.Asp293Tyr)
c.784G>T (p.Asp262Tyr)
c.1036G>T (p.Asp346Tyr)
c.685G>T (p.Asp229Tyr)
 gnomAD v4
1g.155294570C=CA1200112212PKLRc.877G= (p.Asp293=)
c.784G= (p.Asp262=)
c.1036G= (p.Asp346=)
c.685G= (p.Asp229=)
1g.155294570C>GCA342754055PKLRc.877G>C (p.Asp293His)
c.784G>C (p.Asp262His)
c.1036G>C (p.Asp346His)
c.685G>C (p.Asp229His)
 dbSNP gnomAD v3 gnomAD v4
1g.155294570C>TCA342754056PKLRc.877G>A (p.Asp293Asn)
c.784G>A (p.Asp262Asn)
c.1036G>A (p.Asp346Asn)
c.685G>A (p.Asp229Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.155294571G>ACA421245585PKLRc.876C>T (p.Ser292=)
c.783C>T (p.Ser261=)
c.1035C>T (p.Ser345=)
c.684C>T (p.Ser228=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.155294571G>CCA342754059PKLRc.876C>G (p.Ser292Arg)
c.783C>G (p.Ser261Arg)
c.1035C>G (p.Ser345Arg)
c.684C>G (p.Ser228Arg)
1g.155294571G=CA1200112213PKLRc.876C= (p.Ser292=)
c.783C= (p.Ser261=)
c.1035C= (p.Ser345=)
c.684C= (p.Ser228=)
1g.155294571G>TCA342754061PKLRc.876C>A (p.Ser292Arg)
c.783C>A (p.Ser261Arg)
c.1035C>A (p.Ser345Arg)
c.684C>A (p.Ser228Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294572C>ACA342754067PKLRc.875G>T (p.Ser292Ile)
c.782G>T (p.Ser261Ile)
c.1034G>T (p.Ser345Ile)
c.683G>T (p.Ser228Ile)
1g.155294572C>GCA342754065PKLRc.875G>C (p.Ser292Thr)
c.782G>C (p.Ser261Thr)
c.1034G>C (p.Ser345Thr)
c.683G>C (p.Ser228Thr)
1g.155294572C>TCA342754064PKLRc.875G>A (p.Ser292Asn)
c.782G>A (p.Ser261Asn)
c.1034G>A (p.Ser345Asn)
c.683G>A (p.Ser228Asn)
 dbSNP
1g.155294573T>ACA30903254PKLRc.874A>T (p.Ser292Cys)
c.781A>T (p.Ser261Cys)
c.1033A>T (p.Ser345Cys)
c.682A>T (p.Ser228Cys)
 dbSNP
1g.155294573T>CCA342754071PKLRc.874A>G (p.Ser292Gly)
c.781A>G (p.Ser261Gly)
c.1033A>G (p.Ser345Gly)
c.682A>G (p.Ser228Gly)
 dbSNP gnomAD v4
1g.155294573T>GCA342754073PKLRc.874A>C (p.Ser292Arg)
c.781A>C (p.Ser261Arg)
c.1033A>C (p.Ser345Arg)
c.682A>C (p.Ser228Arg)
1g.155294573T=CA1149127913PKLRc.874A= (p.Ser292=)
c.781A= (p.Ser261=)
c.1033A= (p.Ser345=)
c.682A= (p.Ser228=)
1g.155294574G>ACA421245587PKLRc.873C>T (p.Ala291=)
c.780C>T (p.Ala260=)
c.1032C>T (p.Ala344=)
c.681C>T (p.Ala227=)
1g.155294574G>CCA421245589PKLRc.873C>G (p.Ala291=)
c.780C>G (p.Ala260=)
c.1032C>G (p.Ala344=)
c.681C>G (p.Ala227=)
1g.155294574G>TCA421245588PKLRc.873C>A (p.Ala291=)
c.780C>A (p.Ala260=)
c.1032C>A (p.Ala344=)
c.681C>A (p.Ala227=)
1g.155294575G>ACA342754076PKLRc.872C>T (p.Ala291Val)
c.779C>T (p.Ala260Val)
c.1031C>T (p.Ala344Val)
c.680C>T (p.Ala227Val)
1g.155294575G>CCA342754078PKLRc.872C>G (p.Ala291Gly)
c.779C>G (p.Ala260Gly)
c.1031C>G (p.Ala344Gly)
c.680C>G (p.Ala227Gly)
1g.155294575G>TCA342754079PKLRc.872C>A (p.Ala291Asp)
c.779C>A (p.Ala260Asp)
c.1031C>A (p.Ala344Asp)
c.680C>A (p.Ala227Asp)
1g.155294576C>ACA342754083PKLRc.871G>T (p.Ala291Ser)
c.778G>T (p.Ala260Ser)
c.1030G>T (p.Ala344Ser)
c.679G>T (p.Ala227Ser)
1g.155294576C>GCA342754086PKLRc.871G>C (p.Ala291Pro)
c.778G>C (p.Ala260Pro)
c.1030G>C (p.Ala344Pro)
c.679G>C (p.Ala227Pro)
1g.155294576C>TCA342754084PKLRc.871G>A (p.Ala291Thr)
c.778G>A (p.Ala260Thr)
c.1030G>A (p.Ala344Thr)
c.679G>A (p.Ala227Thr)
1g.155294577T>ACA342754089PKLRc.870A>T (p.Lys290Asn)
c.777A>T (p.Lys259Asn)
c.1029A>T (p.Lys343Asn)
c.678A>T (p.Lys226Asn)
1g.155294577T>CCA421245592PKLRc.870A>G (p.Lys290=)
c.777A>G (p.Lys259=)
c.1029A>G (p.Lys343=)
c.678A>G (p.Lys226=)
 dbSNP
1g.155294577T>GCA342754090PKLRc.870A>C (p.Lys290Asn)
c.777A>C (p.Lys259Asn)
c.1029A>C (p.Lys343Asn)
c.678A>C (p.Lys226Asn)
 gnomAD v4
1g.155294577T=CA1200112214PKLRc.870A= (p.Lys290=)
c.777A= (p.Lys259=)
c.1029A= (p.Lys343=)
c.678A= (p.Lys226=)
1g.155294578T>ACA342754093PKLRc.869A>T (p.Lys290Ile)
c.776A>T (p.Lys259Ile)
c.1028A>T (p.Lys343Ile)
c.677A>T (p.Lys226Ile)
1g.155294578T>CCA30903255PKLRc.869A>G (p.Lys290Arg)
c.776A>G (p.Lys259Arg)
c.1028A>G (p.Lys343Arg)
c.677A>G (p.Lys226Arg)
 dbSNP
1g.155294578T>GCA342754096PKLRc.869A>C (p.Lys290Thr)
c.776A>C (p.Lys259Thr)
c.1028A>C (p.Lys343Thr)
c.677A>C (p.Lys226Thr)
1g.155294578T=CA1200112215PKLRc.869A= (p.Lys290=)
c.776A= (p.Lys259=)
c.1028A= (p.Lys343=)
c.677A= (p.Lys226=)
1g.155294579T>ACA342754097PKLRc.868A>T (p.Lys290Ter)
c.775A>T (p.Lys259Ter)
c.1027A>T (p.Lys343Ter)
c.676A>T (p.Lys226Ter)
1g.155294579T>CCA342754098PKLRc.868A>G (p.Lys290Glu)
c.775A>G (p.Lys259Glu)
c.1027A>G (p.Lys343Glu)
c.676A>G (p.Lys226Glu)
1g.155294579T>GCA342754100PKLRc.868A>C (p.Lys290Gln)
c.775A>C (p.Lys259Gln)
c.1027A>C (p.Lys343Gln)
c.676A>C (p.Lys226Gln)
1g.155294580C>ACA421245594PKLRc.867G>T (p.Arg289=)
c.774G>T (p.Arg258=)
c.1026G>T (p.Arg342=)
c.675G>T (p.Arg225=)
1g.155294580C>GCA421245596PKLRc.867G>C (p.Arg289=)
c.774G>C (p.Arg258=)
c.1026G>C (p.Arg342=)
c.675G>C (p.Arg225=)
1g.155294580C>TCA421245598PKLRc.867G>A (p.Arg289=)
c.774G>A (p.Arg258=)
c.1026G>A (p.Arg342=)
c.675G>A (p.Arg225=)
1g.155294581C>ACA342754103PKLRc.866G>T (p.Arg289Leu)
c.773G>T (p.Arg258Leu)
c.1025G>T (p.Arg342Leu)
c.674G>T (p.Arg225Leu)
 COSMIC
1g.155294581C=CA1149134989PKLRc.866G= (p.Arg289=)
c.773G= (p.Arg258=)
c.1025G= (p.Arg342=)
c.674G= (p.Arg225=)
1g.155294581C>GCA342754105PKLRc.866G>C (p.Arg289Pro)
c.773G>C (p.Arg258Pro)
c.1025G>C (p.Arg342Pro)
c.674G>C (p.Arg225Pro)
1g.155294581C>TCA1144191PKLRc.866G>A (p.Arg289Gln)
c.773G>A (p.Arg258Gln)
c.1025G>A (p.Arg342Gln)
c.674G>A (p.Arg225Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294582G>ACA342754107PKLRc.865C>T (p.Arg289Trp)
c.772C>T (p.Arg258Trp)
c.1024C>T (p.Arg342Trp)
c.673C>T (p.Arg225Trp)
1g.155294582G>CCA342754109PKLRc.865C>G (p.Arg289Gly)
c.772C>G (p.Arg258Gly)
c.1024C>G (p.Arg342Gly)
c.673C>G (p.Arg225Gly)
1g.155294582G>TCA421245601PKLRc.865C>A (p.Arg289=)
c.772C>A (p.Arg258=)
c.1024C>A (p.Arg342=)
c.673C>A (p.Arg225=)
 dbSNP gnomAD v4
1g.155294583C>ACA421245602PKLRc.864G>T (p.Val288=)
c.771G>T (p.Val257=)
c.1023G>T (p.Val341=)
c.672G>T (p.Val224=)
1g.155294583C>GCA421245603PKLRc.864G>C (p.Val288=)
c.771G>C (p.Val257=)
c.1023G>C (p.Val341=)
c.672G>C (p.Val224=)
1g.155294583C>TCA421245604PKLRc.864G>A (p.Val288=)
c.771G>A (p.Val257=)
c.1023G>A (p.Val341=)
c.672G>A (p.Val224=)
1g.155294584A>CCA342754112PKLRc.863T>G (p.Val288Gly)
c.770T>G (p.Val257Gly)
c.1022T>G (p.Val341Gly)
c.671T>G (p.Val224Gly)
1g.155294584A>GCA342754115PKLRc.863T>C (p.Val288Ala)
c.770T>C (p.Val257Ala)
c.1022T>C (p.Val341Ala)
c.671T>C (p.Val224Ala)
 gnomAD v4
1g.155294584A>TCA342754113PKLRc.863T>A (p.Val288Glu)
c.770T>A (p.Val257Glu)
c.1022T>A (p.Val341Glu)
c.671T>A (p.Val224Glu)
1g.155294585C>ACA342754118PKLRc.862G>T (p.Val288Leu)
c.769G>T (p.Val257Leu)
c.1021G>T (p.Val341Leu)
c.670G>T (p.Val224Leu)
 gnomAD v4
1g.155294585C>GCA342754120PKLRc.862G>C (p.Val288Leu)
c.769G>C (p.Val257Leu)
c.1021G>C (p.Val341Leu)
c.670G>C (p.Val224Leu)
1g.155294585C>TCA342754122PKLRc.862G>A (p.Val288Met)
c.769G>A (p.Val257Met)
c.1021G>A (p.Val341Met)
c.670G>A (p.Val224Met)
 gnomAD v4
1g.155294586A>CCA342754124PKLRc.861T>G (p.Phe287Leu)
c.768T>G (p.Phe256Leu)
c.1020T>G (p.Phe340Leu)
c.669T>G (p.Phe223Leu)
1g.155294586A>GCA421245607PKLRc.861T>C (p.Phe287=)
c.768T>C (p.Phe256=)
c.1020T>C (p.Phe340=)
c.669T>C (p.Phe223=)
1g.155294586A>TCA342754126PKLRc.861T>A (p.Phe287Leu)
c.768T>A (p.Phe256Leu)
c.1020T>A (p.Phe340Leu)
c.669T>A (p.Phe223Leu)
1g.155294587A>CCA342754128PKLRc.860T>G (p.Phe287Cys)
c.767T>G (p.Phe256Cys)
c.1019T>G (p.Phe340Cys)
c.668T>G (p.Phe223Cys)
1g.155294587A>GCA342754130PKLRc.860T>C (p.Phe287Ser)
c.767T>C (p.Phe256Ser)
c.1019T>C (p.Phe340Ser)
c.668T>C (p.Phe223Ser)
1g.155294587A>TCA342754132PKLRc.860T>A (p.Phe287Tyr)
c.767T>A (p.Phe256Tyr)
c.1019T>A (p.Phe340Tyr)
c.668T>A (p.Phe223Tyr)
1g.155294588A>CCA342754134PKLRc.859T>G (p.Phe287Val)
c.766T>G (p.Phe256Val)
c.1018T>G (p.Phe340Val)
c.667T>G (p.Phe223Val)
1g.155294588A>GCA342754137PKLRc.859T>C (p.Phe287Leu)
c.766T>C (p.Phe256Leu)
c.1018T>C (p.Phe340Leu)
c.667T>C (p.Phe223Leu)
1g.155294588A>TCA342754138PKLRc.859T>A (p.Phe287Ile)
c.766T>A (p.Phe256Ile)
c.1018T>A (p.Phe340Ile)
c.667T>A (p.Phe223Ile)
1g.155294589G>ACA421245609PKLRc.858C>T (p.Ser286=)
c.765C>T (p.Ser255=)
c.1017C>T (p.Ser339=)
c.666C>T (p.Ser222=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294589G>CCA421245610PKLRc.858C>G (p.Ser286=)
c.765C>G (p.Ser255=)
c.1017C>G (p.Ser339=)
c.666C>G (p.Ser222=)
1g.155294589G=CA1142370442PKLRc.858C= (p.Ser286=)
c.765C= (p.Ser255=)
c.1017C= (p.Ser339=)
c.666C= (p.Ser222=)
1g.155294589G>TCA1144192PKLRc.858C>A (p.Ser286=)
c.765C>A (p.Ser255=)
c.1017C>A (p.Ser339=)
c.666C>A (p.Ser222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294590G>ACA342754144PKLRc.857C>T (p.Ser286Phe)
c.764C>T (p.Ser255Phe)
c.1016C>T (p.Ser339Phe)
c.665C>T (p.Ser222Phe)
1g.155294590G>CCA342754141PKLRc.857C>G (p.Ser286Cys)
c.764C>G (p.Ser255Cys)
c.1016C>G (p.Ser339Cys)
c.665C>G (p.Ser222Cys)
 gnomAD v4
1g.155294590G>TCA342754143PKLRc.857C>A (p.Ser286Tyr)
c.764C>A (p.Ser255Tyr)
c.1016C>A (p.Ser339Tyr)
c.665C>A (p.Ser222Tyr)
1g.155294591A>CCA342754147PKLRc.856T>G (p.Ser286Ala)
c.763T>G (p.Ser255Ala)
c.1015T>G (p.Ser339Ala)
c.664T>G (p.Ser222Ala)
1g.155294591A>GCA342754148PKLRc.856T>C (p.Ser286Pro)
c.763T>C (p.Ser255Pro)
c.1015T>C (p.Ser339Pro)
c.664T>C (p.Ser222Pro)
 gnomAD v4
1g.155294591A>TCA342754150PKLRc.856T>A (p.Ser286Thr)
c.763T>A (p.Ser255Thr)
c.1015T>A (p.Ser339Thr)
c.664T>A (p.Ser222Thr)
1g.155294592G>ACA421245617PKLRc.855C>T (p.Ala285=)
c.762C>T (p.Ala254=)
c.1014C>T (p.Ala338=)
c.663C>T (p.Ala221=)
1g.155294592G>CCA421245618PKLRc.855C>G (p.Ala285=)
c.762C>G (p.Ala254=)
c.1014C>G (p.Ala338=)
c.663C>G (p.Ala221=)
1g.155294592G>TCA421245619PKLRc.855C>A (p.Ala285=)
c.762C>A (p.Ala254=)
c.1014C>A (p.Ala338=)
c.663C>A (p.Ala221=)
1g.155294593G>ACA342754152PKLRc.854C>T (p.Ala285Val)
c.761C>T (p.Ala254Val)
c.1013C>T (p.Ala338Val)
c.662C>T (p.Ala221Val)
1g.155294593G>CCA342754154PKLRc.854C>G (p.Ala285Gly)
c.761C>G (p.Ala254Gly)
c.1013C>G (p.Ala338Gly)
c.662C>G (p.Ala221Gly)
1g.155294593G>TCA342754156PKLRc.854C>A (p.Ala285Asp)
c.761C>A (p.Ala254Asp)
c.1013C>A (p.Ala338Asp)
c.662C>A (p.Ala221Asp)
1g.155294594C>ACA342754158PKLRc.853G>T (p.Ala285Ser)
c.760G>T (p.Ala254Ser)
c.1012G>T (p.Ala338Ser)
c.661G>T (p.Ala221Ser)
1g.155294594C>GCA342754160PKLRc.853G>C (p.Ala285Pro)
c.760G>C (p.Ala254Pro)
c.1012G>C (p.Ala338Pro)
c.661G>C (p.Ala221Pro)
1g.155294594C>TCA342754162PKLRc.853G>A (p.Ala285Thr)
c.760G>A (p.Ala254Thr)
c.1012G>A (p.Ala338Thr)
c.661G>A (p.Ala221Thr)
1g.155294595A>CCA342754164PKLRc.852T>G (p.Phe284Leu)
c.759T>G (p.Phe253Leu)
c.1011T>G (p.Phe337Leu)
c.660T>G (p.Phe220Leu)
1g.155294595A>GCA421245624PKLRc.852T>C (p.Phe284=)
c.759T>C (p.Phe253=)
c.1011T>C (p.Phe337=)
c.660T>C (p.Phe220=)
 gnomAD v4
1g.155294595A>TCA342754166PKLRc.852T>A (p.Phe284Leu)
c.759T>A (p.Phe253Leu)
c.1011T>A (p.Phe337Leu)
c.660T>A (p.Phe220Leu)
1g.155294596A>CCA342754173PKLRc.851T>G (p.Phe284Cys)
c.758T>G (p.Phe253Cys)
c.1010T>G (p.Phe337Cys)
c.659T>G (p.Phe220Cys)
1g.155294596A>GCA342754171PKLRc.851T>C (p.Phe284Ser)
c.758T>C (p.Phe253Ser)
c.1010T>C (p.Phe337Ser)
c.659T>C (p.Phe220Ser)
1g.155294596A>TCA342754169PKLRc.851T>A (p.Phe284Tyr)
c.758T>A (p.Phe253Tyr)
c.1010T>A (p.Phe337Tyr)
c.659T>A (p.Phe220Tyr)
1g.155294597A>CCA342754176PKLRc.850T>G (p.Phe284Val)
c.757T>G (p.Phe253Val)
c.1009T>G (p.Phe337Val)
c.658T>G (p.Phe220Val)
1g.155294597A>GCA342754178PKLRc.850T>C (p.Phe284Leu)
c.757T>C (p.Phe253Leu)
c.1009T>C (p.Phe337Leu)
c.658T>C (p.Phe220Leu)
1g.155294597A>TCA342754179PKLRc.850T>A (p.Phe284Ile)
c.757T>A (p.Phe253Ile)
c.1009T>A (p.Phe337Ile)
c.658T>A (p.Phe220Ile)
1g.155294598G>ACA421245627PKLRc.849C>T (p.Val283=)
c.756C>T (p.Val252=)
c.1008C>T (p.Val336=)
c.657C>T (p.Val219=)
1g.155294598G>CCA421245626PKLRc.849C>G (p.Val283=)
c.756C>G (p.Val252=)
c.1008C>G (p.Val336=)
c.657C>G (p.Val219=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294598G=CA1200112216PKLRc.849C= (p.Val283=)
c.756C= (p.Val252=)
c.1008C= (p.Val336=)
c.657C= (p.Val219=)
1g.155294598G>TCA421245625PKLRc.849C>A (p.Val283=)
c.756C>A (p.Val252=)
c.1008C>A (p.Val336=)
c.657C>A (p.Val219=)
1g.155294599A=CA1200112217PKLRc.848T= (p.Val283=)
c.755T= (p.Val252=)
c.1007T= (p.Val336=)
c.656T= (p.Val219=)
1g.155294599A>CCA342754182PKLRc.848T>G (p.Val283Gly)
c.755T>G (p.Val252Gly)
c.1007T>G (p.Val336Gly)
c.656T>G (p.Val219Gly)
 gnomAD v4
1g.155294599A>GCA342754184PKLRc.848T>C (p.Val283Ala)
c.755T>C (p.Val252Ala)
c.1007T>C (p.Val336Ala)
c.656T>C (p.Val219Ala)
 gnomAD v4
1g.155294599A>TCA342754186PKLRc.848T>A (p.Val283Asp)
c.755T>A (p.Val252Asp)
c.1007T>A (p.Val336Asp)
c.656T>A (p.Val219Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.155294600C>ACA342754192PKLRc.847G>T (p.Val283Phe)
c.754G>T (p.Val252Phe)
c.1006G>T (p.Val336Phe)
c.655G>T (p.Val219Phe)
1g.155294600C=CA1200112218PKLRc.847G= (p.Val283=)
c.754G= (p.Val252=)
c.1006G= (p.Val336=)
c.655G= (p.Val219=)
1g.155294600C>GCA342754188PKLRc.847G>C (p.Val283Leu)
c.754G>C (p.Val252Leu)
c.1006G>C (p.Val336Leu)
c.655G>C (p.Val219Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.155294600C>TCA342754190PKLRc.847G>A (p.Val283Ile)
c.754G>A (p.Val252Ile)
c.1006G>A (p.Val336Ile)
c.655G>A (p.Val219Ile)
 gnomAD v4
1g.155294600_155294601delinsCGCA1200112219PKLRc.846_847delinsCG (p.Ile282=)
c.753_754delinsCG (p.Ile251=)
c.1005_1006delinsCG (p.Ile335=)
c.654_655delinsCG (p.Ile218=)
1g.155294601delCA1144193PKLRc.846del (p.Ile282MetfsTer?)
c.753del (p.Ile251MetfsTer?)
c.1005del (p.Ile335MetfsTer?)
c.654del (p.Ile218MetfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294601G>ACA421245630PKLRc.846C>T (p.Ile282=)
c.753C>T (p.Ile251=)
c.1005C>T (p.Ile335=)
c.654C>T (p.Ile218=)
1g.155294601G>CCA30903276PKLRc.846C>G (p.Ile282Met)
c.753C>G (p.Ile251Met)
c.1005C>G (p.Ile335Met)
c.654C>G (p.Ile218Met)
 dbSNP gnomAD v4
1g.155294601G=CA1200112220PKLRc.846C= (p.Ile282=)
c.753C= (p.Ile251=)
c.1005C= (p.Ile335=)
c.654C= (p.Ile218=)
1g.155294601G>TCA421245629PKLRc.846C>A (p.Ile282=)
c.753C>A (p.Ile251=)
c.1005C>A (p.Ile335=)
c.654C>A (p.Ile218=)
1g.155294602A>CCA342754197PKLRc.845T>G (p.Ile282Ser)
c.752T>G (p.Ile251Ser)
c.1004T>G (p.Ile335Ser)
c.653T>G (p.Ile218Ser)
1g.155294602A>GCA342754199PKLRc.845T>C (p.Ile282Thr)
c.752T>C (p.Ile251Thr)
c.1004T>C (p.Ile335Thr)
c.653T>C (p.Ile218Thr)
 gnomAD v4
1g.155294602A>TCA342754200PKLRc.845T>A (p.Ile282Asn)
c.752T>A (p.Ile251Asn)
c.1004T>A (p.Ile335Asn)
c.653T>A (p.Ile218Asn)
1g.155294603T>ACA342754203PKLRc.844A>T (p.Ile282Phe)
c.751A>T (p.Ile251Phe)
c.1003A>T (p.Ile335Phe)
c.652A>T (p.Ile218Phe)
 ClinVar
1g.155294603T>CCA342754206PKLRc.844A>G (p.Ile282Val)
c.751A>G (p.Ile251Val)
c.1003A>G (p.Ile335Val)
c.652A>G (p.Ile218Val)
 gnomAD v4
1g.155294603T>GCA342754205PKLRc.844A>C (p.Ile282Leu)
c.751A>C (p.Ile251Leu)
c.1003A>C (p.Ile335Leu)
c.652A>C (p.Ile218Leu)
1g.155294604G>ACA421245634PKLRc.843C>T (p.Asp281=)
c.750C>T (p.Asp250=)
c.1002C>T (p.Asp334=)
c.651C>T (p.Asp217=)
 gnomAD v4
1g.155294604G>CCA342754209PKLRc.843C>G (p.Asp281Glu)
c.750C>G (p.Asp250Glu)
c.1002C>G (p.Asp334Glu)
c.651C>G (p.Asp217Glu)
1g.155294604G>TCA342754210PKLRc.843C>A (p.Asp281Glu)
c.750C>A (p.Asp250Glu)
c.1002C>A (p.Asp334Glu)
c.651C>A (p.Asp217Glu)
 gnomAD v4
1g.155294605T>ACA342754212PKLRc.842A>T (p.Asp281Val)
c.749A>T (p.Asp250Val)
c.1001A>T (p.Asp334Val)
c.650A>T (p.Asp217Val)
1g.155294605T>CCA342754214PKLRc.842A>G (p.Asp281Gly)
c.749A>G (p.Asp250Gly)
c.1001A>G (p.Asp334Gly)
c.650A>G (p.Asp217Gly)
1g.155294605T>GCA342754216PKLRc.842A>C (p.Asp281Ala)
c.749A>C (p.Asp250Ala)
c.1001A>C (p.Asp334Ala)
c.650A>C (p.Asp217Ala)
1g.155294613_155294624delCA2746213714PKLRc.831_842del (p.Glu277_Val280del)
c.738_749del (p.Glu246_Val249del)
c.990_1001del (p.Glu330_Val333del)
c.639_650del (p.Glu213_Val216del)
1g.155294606C>ACA342754218PKLRc.841G>T (p.Asp281Tyr)
c.748G>T (p.Asp250Tyr)
c.1000G>T (p.Asp334Tyr)
c.649G>T (p.Asp217Tyr)
1g.155294606C=CA1200112221PKLRc.841G= (p.Asp281=)
c.748G= (p.Asp250=)
c.1000G= (p.Asp334=)
c.649G= (p.Asp217=)
1g.155294606C>GCA342754220PKLRc.841G>C (p.Asp281His)
c.748G>C (p.Asp250His)
c.1000G>C (p.Asp334His)
c.649G>C (p.Asp217His)
1g.155294606C>TCA342754222PKLRc.841G>A (p.Asp281Asn)
c.748G>A (p.Asp250Asn)
c.1000G>A (p.Asp334Asn)
c.649G>A (p.Asp217Asn)
 dbSNP gnomAD v4 COSMIC
1g.155294607C>ACA421245638PKLRc.840G>T (p.Val280=)
c.747G>T (p.Val249=)
c.999G>T (p.Val333=)
c.648G>T (p.Val216=)
1g.155294607C>GCA421245639PKLRc.840G>C (p.Val280=)
c.747G>C (p.Val249=)
c.999G>C (p.Val333=)
c.648G>C (p.Val216=)
1g.155294607C>TCA421245640PKLRc.840G>A (p.Val280=)
c.747G>A (p.Val249=)
c.999G>A (p.Val333=)
c.648G>A (p.Val216=)
1g.155294608A=CA1200112222PKLRc.839T= (p.Val280=)
c.746T= (p.Val249=)
c.998T= (p.Val333=)
c.647T= (p.Val216=)
1g.155294608A>CCA342754224PKLRc.839T>G (p.Val280Gly)
c.746T>G (p.Val249Gly)
c.998T>G (p.Val333Gly)
c.647T>G (p.Val216Gly)
 dbSNP
1g.155294608A>GCA342754225PKLRc.839T>C (p.Val280Ala)
c.746T>C (p.Val249Ala)
c.998T>C (p.Val333Ala)
c.647T>C (p.Val216Ala)
1g.155294608A>TCA342754227PKLRc.839T>A (p.Val280Glu)
c.746T>A (p.Val249Glu)
c.998T>A (p.Val333Glu)
c.647T>A (p.Val216Glu)
1g.155294609C>ACA342754233PKLRc.838G>T (p.Val280Leu)
c.745G>T (p.Val249Leu)
c.997G>T (p.Val333Leu)
c.646G>T (p.Val216Leu)
1g.155294609C=CA1200112223PKLRc.838G= (p.Val280=)
c.745G= (p.Val249=)
c.997G= (p.Val333=)
c.646G= (p.Val216=)
1g.155294609C>GCA342754232PKLRc.838G>C (p.Val280Leu)
c.745G>C (p.Val249Leu)
c.997G>C (p.Val333Leu)
c.646G>C (p.Val216Leu)
1g.155294609C>TCA342754230PKLRc.838G>A (p.Val280Met)
c.745G>A (p.Val249Met)
c.997G>A (p.Val333Met)
c.646G>A (p.Val216Met)
 dbSNP gnomAD v4
1g.155294610C>ACA421245647PKLRc.837G>T (p.Gly279=)
c.744G>T (p.Gly248=)
c.996G>T (p.Gly332=)
c.645G>T (p.Gly215=)
1g.155294610C=CA1200112224PKLRc.837G= (p.Gly279=)
c.744G= (p.Gly248=)
c.996G= (p.Gly332=)
c.645G= (p.Gly215=)
1g.155294610C>GCA1144194PKLRc.837G>C (p.Gly279=)
c.744G>C (p.Gly248=)
c.996G>C (p.Gly332=)
c.645G>C (p.Gly215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294610C>TCA421245648PKLRc.837G>A (p.Gly279=)
c.744G>A (p.Gly248=)
c.996G>A (p.Gly332=)
c.645G>A (p.Gly215=)
 dbSNP gnomAD v4
1g.155294611C>ACA30903282PKLRc.836G>T (p.Gly279Val)
c.743G>T (p.Gly248Val)
c.995G>T (p.Gly332Val)
c.644G>T (p.Gly215Val)
 dbSNP
1g.155294611C=CA1200112225PKLRc.836G= (p.Gly279=)
c.743G= (p.Gly248=)
c.995G= (p.Gly332=)
c.644G= (p.Gly215=)
1g.155294611C>GCA342754239PKLRc.836G>C (p.Gly279Ala)
c.743G>C (p.Gly248Ala)
c.995G>C (p.Gly332Ala)
c.644G>C (p.Gly215Ala)
1g.155294611C>TCA1144195PKLRc.836G>A (p.Gly279Glu)
c.743G>A (p.Gly248Glu)
c.995G>A (p.Gly332Glu)
c.644G>A (p.Gly215Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294612C>ACA342754242PKLRc.835G>T (p.Gly279Trp)
c.742G>T (p.Gly248Trp)
c.994G>T (p.Gly332Trp)
c.643G>T (p.Gly215Trp)
1g.155294612C=CA1200112226PKLRc.835G= (p.Gly279=)
c.742G= (p.Gly248=)
c.994G= (p.Gly332=)
c.643G= (p.Gly215=)
1g.155294612C>GCA342754244PKLRc.835G>C (p.Gly279Arg)
c.742G>C (p.Gly248Arg)
c.994G>C (p.Gly332Arg)
c.643G>C (p.Gly215Arg)
1g.155294612C>TCA342754243PKLRc.835G>A (p.Gly279Arg)
c.742G>A (p.Gly248Arg)
c.994G>A (p.Gly332Arg)
c.643G>A (p.Gly215Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155294613A=CA1200112227PKLRc.834T= (p.His278=)
c.741T= (p.His247=)
c.993T= (p.His331=)
c.642T= (p.His214=)
1g.155294613A>CCA342754246PKLRc.834T>G (p.His278Gln)
c.741T>G (p.His247Gln)
c.993T>G (p.His331Gln)
c.642T>G (p.His214Gln)
1g.155294613A>GCA1144196PKLRc.834T>C (p.His278=)
c.741T>C (p.His247=)
c.993T>C (p.His331=)
c.642T>C (p.His214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294613A>TCA342754248PKLRc.834T>A (p.His278Gln)
c.741T>A (p.His247Gln)
c.993T>A (p.His331Gln)
c.642T>A (p.His214Gln)
1g.155294614T>ACA342754251PKLRc.833A>T (p.His278Leu)
c.740A>T (p.His247Leu)
c.992A>T (p.His331Leu)
c.641A>T (p.His214Leu)
 gnomAD v4
1g.155294614T>CCA342754253PKLRc.833A>G (p.His278Arg)
c.740A>G (p.His247Arg)
c.992A>G (p.His331Arg)
c.641A>G (p.His214Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.155294614T>GCA342754255PKLRc.833A>C (p.His278Pro)
c.740A>C (p.His247Pro)
c.992A>C (p.His331Pro)
c.641A>C (p.His214Pro)
1g.155294614T=CA1200112228PKLRc.833A= (p.His278=)
c.740A= (p.His247=)
c.992A= (p.His331=)
c.641A= (p.His214=)
1g.155294615G>ACA342754257PKLRc.832C>T (p.His278Tyr)
c.739C>T (p.His247Tyr)
c.991C>T (p.His331Tyr)
c.640C>T (p.His214Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.155294615G>CCA342754260PKLRc.832C>G (p.His278Asp)
c.739C>G (p.His247Asp)
c.991C>G (p.His331Asp)
c.640C>G (p.His214Asp)
1g.155294615G=CA1200112229PKLRc.832C= (p.His278=)
c.739C= (p.His247=)
c.991C= (p.His331=)
c.640C= (p.His214=)
1g.155294615G>TCA342754261PKLRc.832C>A (p.His278Asn)
c.739C>A (p.His247Asn)
c.991C>A (p.His331Asn)
c.640C>A (p.His214Asn)
1g.155294616C>ACA342754263PKLRc.831G>T (p.Glu277Asp)
c.738G>T (p.Glu246Asp)
c.990G>T (p.Glu330Asp)
c.639G>T (p.Glu213Asp)
1g.155294616C>GCA342754264PKLRc.831G>C (p.Glu277Asp)
c.738G>C (p.Glu246Asp)
c.990G>C (p.Glu330Asp)
c.639G>C (p.Glu213Asp)
1g.155294616C>TCA421245653PKLRc.831G>A (p.Glu277=)
c.738G>A (p.Glu246=)
c.990G>A (p.Glu330=)
c.639G>A (p.Glu213=)
 gnomAD v4
1g.155294617T>ACA342754265PKLRc.830A>T (p.Glu277Val)
c.737A>T (p.Glu246Val)
c.989A>T (p.Glu330Val)
c.638A>T (p.Glu213Val)
1g.155294617T>CCA342754266PKLRc.830A>G (p.Glu277Gly)
c.737A>G (p.Glu246Gly)
c.989A>G (p.Glu330Gly)
c.638A>G (p.Glu213Gly)
1g.155294617T>GCA342754267PKLRc.830A>C (p.Glu277Ala)
c.737A>C (p.Glu246Ala)
c.989A>C (p.Glu330Ala)
c.638A>C (p.Glu213Ala)
1g.155294618C>ACA342754269PKLRc.829G>T (p.Glu277Ter)
c.736G>T (p.Glu246Ter)
c.988G>T (p.Glu330Ter)
c.637G>T (p.Glu213Ter)
 ClinVar
1g.155294618C=CA1142193689PKLRc.829G= (p.Glu277=)
c.736G= (p.Glu246=)
c.988G= (p.Glu330=)
c.637G= (p.Glu213=)
1g.155294618C>GCA342754268PKLRc.829G>C (p.Glu277Gln)
c.736G>C (p.Glu246Gln)
c.988G>C (p.Glu330Gln)
c.637G>C (p.Glu213Gln)
1g.155294618C>TCA1144197PKLRc.829G>A (p.Glu277Lys)
c.736G>A (p.Glu246Lys)
c.988G>A (p.Glu330Lys)
c.637G>A (p.Glu213Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294619C>ACA421245658PKLRc.828G>T (p.Val276=)
c.735G>T (p.Val245=)
c.987G>T (p.Val329=)
c.636G>T (p.Val212=)
1g.155294619C=CA1200112230PKLRc.828G= (p.Val276=)
c.735G= (p.Val245=)
c.987G= (p.Val329=)
c.636G= (p.Val212=)
1g.155294619C>GCA421245659PKLRc.828G>C (p.Val276=)
c.735G>C (p.Val245=)
c.987G>C (p.Val329=)
c.636G>C (p.Val212=)
1g.155294619C>TCA421245660PKLRc.828G>A (p.Val276=)
c.735G>A (p.Val245=)
c.987G>A (p.Val329=)
c.636G>A (p.Val212=)
 dbSNP
1g.155294620A=CA1200112232PKLRc.827T= (p.Val276=)
c.734T= (p.Val245=)
c.986T= (p.Val329=)
c.635T= (p.Val212=)
1g.155294620A>CCA342754270PKLRc.827T>G (p.Val276Gly)
c.734T>G (p.Val245Gly)
c.986T>G (p.Val329Gly)
c.635T>G (p.Val212Gly)
1g.155294620A>GCA342754271PKLRc.827T>C (p.Val276Ala)
c.734T>C (p.Val245Ala)
c.986T>C (p.Val329Ala)
c.635T>C (p.Val212Ala)
 gnomAD v4
1g.155294620A>TCA342754272PKLRc.827T>A (p.Val276Glu)
c.734T>A (p.Val245Glu)
c.986T>A (p.Val329Glu)
c.635T>A (p.Val212Glu)
 dbSNP
1g.155294620_155294621delinsACCA1200112231PKLRc.826_827delinsGT (p.Val276=)
c.733_734delinsGT (p.Val245=)
c.985_986delinsGT (p.Val329=)
c.634_635delinsGT (p.Val212=)
1g.155294621C>ACA342754273PKLRc.826G>T (p.Val276Leu)
c.733G>T (p.Val245Leu)
c.985G>T (p.Val329Leu)
c.634G>T (p.Val212Leu)
1g.155294621C=CA1200112233PKLRc.826G= (p.Val276=)
c.733G= (p.Val245=)
c.985G= (p.Val329=)
c.634G= (p.Val212=)
1g.155294621C>GCA342754274PKLRc.826G>C (p.Val276Leu)
c.733G>C (p.Val245Leu)
c.985G>C (p.Val329Leu)
c.634G>C (p.Val212Leu)
1g.155294621C>TCA1144199PKLRc.826G>A (p.Val276Met)
c.733G>A (p.Val245Met)
c.985G>A (p.Val329Met)
c.634G>A (p.Val212Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294624_155294625insATGCTCCTCCCCCA2586967537PKLRc.826_827insAGGAGCATGGGG (p.Gly275_Val276insGluGluHisGly)
c.733_734insAGGAGCATGGGG (p.Gly244_Val245insGluGluHisGly)
c.985_986insAGGAGCATGGGG (p.Gly328_Val329insGluGluHisGly)
c.634_635insAGGAGCATGGGG (p.Gly211_Val212insGluGluHisGly)
 gnomAD v4
1g.155294624delCA1144198PKLRc.826del (p.Val276TrpfsTer?)
c.733del (p.Val245TrpfsTer?)
c.985del (p.Val329TrpfsTer?)
c.634del (p.Val212TrpfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294622C>ACA421245667PKLRc.825G>T (p.Gly275=)
c.732G>T (p.Gly244=)
c.984G>T (p.Gly328=)
c.633G>T (p.Gly211=)
 gnomAD v4
1g.155294622C>GCA421245664PKLRc.825G>C (p.Gly275=)
c.732G>C (p.Gly244=)
c.984G>C (p.Gly328=)
c.633G>C (p.Gly211=)
 gnomAD v4
1g.155294622C>TCA421245666PKLRc.825G>A (p.Gly275=)
c.732G>A (p.Gly244=)
c.984G>A (p.Gly328=)
c.633G>A (p.Gly211=)
1g.155294623C>ACA342754275PKLRc.824G>T (p.Gly275Val)
c.731G>T (p.Gly244Val)
c.983G>T (p.Gly328Val)
c.632G>T (p.Gly211Val)
1g.155294623C>GCA342754276PKLRc.824G>C (p.Gly275Ala)
c.731G>C (p.Gly244Ala)
c.983G>C (p.Gly328Ala)
c.632G>C (p.Gly211Ala)
 COSMIC
1g.155294623C>TCA342754277PKLRc.824G>A (p.Gly275Glu)
c.731G>A (p.Gly244Glu)
c.983G>A (p.Gly328Glu)
c.632G>A (p.Gly211Glu)
1g.155294624C>ACA342754278PKLRc.823G>T (p.Gly275Trp)
c.730G>T (p.Gly244Trp)
c.982G>T (p.Gly328Trp)
c.631G>T (p.Gly211Trp)
1g.155294624C=CA1148471349PKLRc.823G= (p.Gly275=)
c.730G= (p.Gly244=)
c.982G= (p.Gly328=)
c.631G= (p.Gly211=)
1g.155294624C>GCA1144200PKLRc.823G>C (p.Gly275Arg)
c.730G>C (p.Gly244Arg)
c.982G>C (p.Gly328Arg)
c.631G>C (p.Gly211Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294624C>TCA1144201PKLRc.823G>A (p.Gly275Arg)
c.730G>A (p.Gly244Arg)
c.982G>A (p.Gly328Arg)
c.631G>A (p.Gly211Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294625G>ACA421245670PKLRc.822C>T (p.Phe274=)
c.729C>T (p.Phe243=)
c.981C>T (p.Phe327=)
c.630C>T (p.Phe210=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294625G>CCA342754279PKLRc.822C>G (p.Phe274Leu)
c.729C>G (p.Phe243Leu)
c.981C>G (p.Phe327Leu)
c.630C>G (p.Phe210Leu)
1g.155294625G=CA1200112234PKLRc.822C= (p.Phe274=)
c.729C= (p.Phe243=)
c.981C= (p.Phe327=)
c.630C= (p.Phe210=)
1g.155294625G>TCA342754280PKLRc.822C>A (p.Phe274Leu)
c.729C>A (p.Phe243Leu)
c.981C>A (p.Phe327Leu)
c.630C>A (p.Phe210Leu)
1g.155294626A>CCA342754281PKLRc.821T>G (p.Phe274Cys)
c.728T>G (p.Phe243Cys)
c.980T>G (p.Phe327Cys)
c.629T>G (p.Phe210Cys)
1g.155294626A>GCA342754282PKLRc.821T>C (p.Phe274Ser)
c.728T>C (p.Phe243Ser)
c.980T>C (p.Phe327Ser)
c.629T>C (p.Phe210Ser)
1g.155294626A>TCA342754283PKLRc.821T>A (p.Phe274Tyr)
c.728T>A (p.Phe243Tyr)
c.980T>A (p.Phe327Tyr)
c.629T>A (p.Phe210Tyr)
1g.155294627A>CCA342754284PKLRc.820T>G (p.Phe274Val)
c.727T>G (p.Phe243Val)
c.979T>G (p.Phe327Val)
c.628T>G (p.Phe210Val)
1g.155294627A>GCA342754285PKLRc.820T>C (p.Phe274Leu)
c.727T>C (p.Phe243Leu)
c.979T>C (p.Phe327Leu)
c.628T>C (p.Phe210Leu)
1g.155294627A>TCA342754286PKLRc.820T>A (p.Phe274Ile)
c.727T>A (p.Phe243Ile)
c.979T>A (p.Phe327Ile)
c.628T>A (p.Phe210Ile)
1g.155294628G>ACA421245674PKLRc.819C>T (p.Arg273=)
c.726C>T (p.Arg242=)
c.978C>T (p.Arg326=)
c.627C>T (p.Arg209=)
1g.155294628G>CCA421245675PKLRc.819C>G (p.Arg273=)
c.726C>G (p.Arg242=)
c.978C>G (p.Arg326=)
c.627C>G (p.Arg209=)
1g.155294628G>TCA421245676PKLRc.819C>A (p.Arg273=)
c.726C>A (p.Arg242=)
c.978C>A (p.Arg326=)
c.627C>A (p.Arg209=)
1g.155294629C>ACA342754290PKLRc.818G>T (p.Arg273Leu)
c.725G>T (p.Arg242Leu)
c.977G>T (p.Arg326Leu)
c.626G>T (p.Arg209Leu)
1g.155294629C=CA1141802474PKLRc.818G= (p.Arg273=)
c.725G= (p.Arg242=)
c.977G= (p.Arg326=)
c.626G= (p.Arg209=)
1g.155294629C>GCA342754291PKLRc.818G>C (p.Arg273Pro)
c.725G>C (p.Arg242Pro)
c.977G>C (p.Arg326Pro)
c.626G>C (p.Arg209Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.155294629C>TCA1144202PKLRc.818G>A (p.Arg273His)
c.725G>A (p.Arg242His)
c.977G>A (p.Arg326His)
c.626G>A (p.Arg209His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294630G>ACA1144203PKLRc.817C>T (p.Arg273Cys)
c.724C>T (p.Arg242Cys)
c.976C>T (p.Arg326Cys)
c.625C>T (p.Arg209Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294630G>CCA342754298PKLRc.817C>G (p.Arg273Gly)
c.724C>G (p.Arg242Gly)
c.976C>G (p.Arg326Gly)
c.625C>G (p.Arg209Gly)
1g.155294630G=CA1148560049PKLRc.817C= (p.Arg273=)
c.724C= (p.Arg242=)
c.976C= (p.Arg326=)
c.625C= (p.Arg209=)
1g.155294630G>TCA342754295PKLRc.817C>A (p.Arg273Ser)
c.724C>A (p.Arg242Ser)
c.976C>A (p.Arg326Ser)
c.625C>A (p.Arg209Ser)
 gnomAD v4
1g.155294631C>ACA421245681PKLRc.816G>T (p.Leu272=)
c.723G>T (p.Leu241=)
c.975G>T (p.Leu325=)
c.624G>T (p.Leu208=)
1g.155294631C>GCA421245679PKLRc.816G>C (p.Leu272=)
c.723G>C (p.Leu241=)
c.975G>C (p.Leu325=)
c.624G>C (p.Leu208=)
1g.155294631C>TCA421245680PKLRc.816G>A (p.Leu272=)
c.723G>A (p.Leu241=)
c.975G>A (p.Leu325=)
c.624G>A (p.Leu208=)
1g.155294632A=CA1200112235PKLRc.815T= (p.Leu272=)
c.722T= (p.Leu241=)
c.974T= (p.Leu325=)
c.623T= (p.Leu208=)
1g.155294632A>CCA342754301PKLRc.815T>G (p.Leu272Arg)
c.722T>G (p.Leu241Arg)
c.974T>G (p.Leu325Arg)
c.623T>G (p.Leu208Arg)
1g.155294632A>GCA342754303PKLRc.815T>C (p.Leu272Pro)
c.722T>C (p.Leu241Pro)
c.974T>C (p.Leu325Pro)
c.623T>C (p.Leu208Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.155294632A>TCA342754305PKLRc.815T>A (p.Leu272Gln)
c.722T>A (p.Leu241Gln)
c.974T>A (p.Leu325Gln)
c.623T>A (p.Leu208Gln)
1g.155294633G>ACA421245682PKLRc.814C>T (p.Leu272=)
c.721C>T (p.Leu241=)
c.973C>T (p.Leu325=)
c.622C>T (p.Leu208=)
1g.155294633G>CCA1144204PKLRc.814C>G (p.Leu272Val)
c.721C>G (p.Leu241Val)
c.973C>G (p.Leu325Val)
c.622C>G (p.Leu208Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294633G=CA1142192953PKLRc.814C= (p.Leu272=)
c.721C= (p.Leu241=)
c.973C= (p.Leu325=)
c.622C= (p.Leu208=)
1g.155294633G>TCA342754308PKLRc.814C>A (p.Leu272Met)
c.721C>A (p.Leu241Met)
c.973C>A (p.Leu325Met)
c.622C>A (p.Leu208Met)
1g.155294634G>ACA421245685PKLRc.813C>T (p.Asp271=)
c.720C>T (p.Asp240=)
c.972C>T (p.Asp324=)
c.621C>T (p.Asp207=)
1g.155294634G>CCA342754312PKLRc.813C>G (p.Asp271Glu)
c.720C>G (p.Asp240Glu)
c.972C>G (p.Asp324Glu)
c.621C>G (p.Asp207Glu)
1g.155294634G>TCA342754311PKLRc.813C>A (p.Asp271Glu)
c.720C>A (p.Asp240Glu)
c.972C>A (p.Asp324Glu)
c.621C>A (p.Asp207Glu)
 gnomAD v4
1g.155294635T>ACA342754316PKLRc.812A>T (p.Asp271Val)
c.719A>T (p.Asp240Val)
c.971A>T (p.Asp324Val)
c.620A>T (p.Asp207Val)
1g.155294635T>CCA342754317PKLRc.812A>G (p.Asp271Gly)
c.719A>G (p.Asp240Gly)
c.971A>G (p.Asp324Gly)
c.620A>G (p.Asp207Gly)
1g.155294635T>GCA342754319PKLRc.812A>C (p.Asp271Ala)
c.719A>C (p.Asp240Ala)
c.971A>C (p.Asp324Ala)
c.620A>C (p.Asp207Ala)
1g.155294636C>ACA342754321PKLRc.811G>T (p.Asp271Tyr)
c.718G>T (p.Asp240Tyr)
c.970G>T (p.Asp324Tyr)
c.619G>T (p.Asp207Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155294636C=CA1200112236PKLRc.811G= (p.Asp271=)
c.718G= (p.Asp240=)
c.970G= (p.Asp324=)
c.619G= (p.Asp207=)
1g.155294636C>GCA342754323PKLRc.811G>C (p.Asp271His)
c.718G>C (p.Asp240His)
c.970G>C (p.Asp324His)
c.619G>C (p.Asp207His)
1g.155294636C>TCA342754325PKLRc.811G>A (p.Asp271Asn)
c.718G>A (p.Asp240Asn)
c.970G>A (p.Asp324Asn)
c.619G>A (p.Asp207Asn)
1g.155294637T>ACA421245695PKLRc.810A>T (p.Arg270=)
c.717A>T (p.Arg239=)
c.969A>T (p.Arg323=)
c.618A>T (p.Arg206=)
1g.155294637T>CCA421245690PKLRc.810A>G (p.Arg270=)
c.717A>G (p.Arg239=)
c.969A>G (p.Arg323=)
c.618A>G (p.Arg206=)
1g.155294637T>GCA421245692PKLRc.810A>C (p.Arg270=)
c.717A>C (p.Arg239=)
c.969A>C (p.Arg323=)
c.618A>C (p.Arg206=)
 gnomAD v4
1g.155294638C>ACA342754332PKLRc.809G>T (p.Arg270Leu)
c.716G>T (p.Arg239Leu)
c.968G>T (p.Arg323Leu)
c.617G>T (p.Arg206Leu)
 dbSNP gnomAD v4
1g.155294638C=CA1200112237PKLRc.809G= (p.Arg270=)
c.716G= (p.Arg239=)
c.968G= (p.Arg323=)
c.617G= (p.Arg206=)
1g.155294638C>GCA342754330PKLRc.809G>C (p.Arg270Pro)
c.716G>C (p.Arg239Pro)
c.968G>C (p.Arg323Pro)
c.617G>C (p.Arg206Pro)
 gnomAD v4
1g.155294638C>TCA342754327PKLRc.809G>A (p.Arg270Gln)
c.716G>A (p.Arg239Gln)
c.968G>A (p.Arg323Gln)
c.617G>A (p.Arg206Gln)
 gnomAD v4
1g.155294639G>ACA342754334PKLRc.808C>T (p.Arg270Ter)
c.715C>T (p.Arg239Ter)
c.967C>T (p.Arg323Ter)
c.616C>T (p.Arg206Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.155294639G>CCA1144206PKLRc.808C>G (p.Arg270Gly)
c.715C>G (p.Arg239Gly)
c.967C>G (p.Arg323Gly)
c.616C>G (p.Arg206Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294639G=CA1200112238PKLRc.808C= (p.Arg270=)
c.715C= (p.Arg239=)
c.967C= (p.Arg323=)
c.616C= (p.Arg206=)
1g.155294639G>TCA1144205PKLRc.808C>A (p.Arg270=)
c.715C>A (p.Arg239=)
c.967C>A (p.Arg323=)
c.616C>A (p.Arg206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294640G>ACA421245696PKLRc.807C>T (p.Val269=)
c.714C>T (p.Val238=)
c.966C>T (p.Val322=)
c.615C>T (p.Val205=)
1g.155294640G>CCA421245697PKLRc.807C>G (p.Val269=)
c.714C>G (p.Val238=)
c.966C>G (p.Val322=)
c.615C>G (p.Val205=)
1g.155294640G>TCA421245698PKLRc.807C>A (p.Val269=)
c.714C>A (p.Val238=)
c.966C>A (p.Val322=)
c.615C>A (p.Val205=)
1g.155294641A=CA1200112239PKLRc.806T= (p.Val269=)
c.713T= (p.Val238=)
c.965T= (p.Val322=)
c.614T= (p.Val205=)
1g.155294641A>CCA342754339PKLRc.806T>G (p.Val269Gly)
c.713T>G (p.Val238Gly)
c.965T>G (p.Val322Gly)
c.614T>G (p.Val205Gly)
1g.155294641A>GCA1144207PKLRc.806T>C (p.Val269Ala)
c.713T>C (p.Val238Ala)
c.965T>C (p.Val322Ala)
c.614T>C (p.Val205Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294641A>TCA342754342PKLRc.806T>A (p.Val269Asp)
c.713T>A (p.Val238Asp)
c.965T>A (p.Val322Asp)
c.614T>A (p.Val205Asp)
 dbSNP gnomAD v4
1g.155294641_155294650delinsACGTCCTGCTCA1200112240PKLRc.797_806delinsAGCAGGACGT (p.Glu266=)
c.704_713delinsAGCAGGACGT (p.Glu235=)
c.956_965delinsAGCAGGACGT (p.Glu319=)
c.605_614delinsAGCAGGACGT (p.Glu202=)
1g.155294642C>ACA1144208PKLRc.805G>T (p.Val269Phe)
c.712G>T (p.Val238Phe)
c.964G>T (p.Val322Phe)
c.613G>T (p.Val205Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294642C=CA1143434322PKLRc.805G= (p.Val269=)
c.712G= (p.Val238=)
c.964G= (p.Val322=)
c.613G= (p.Val205=)
1g.155294642C>GCA342754345PKLRc.805G>C (p.Val269Leu)
c.712G>C (p.Val238Leu)
c.964G>C (p.Val322Leu)
c.613G>C (p.Val205Leu)
1g.155294642C>TCA342754346PKLRc.805G>A (p.Val269Ile)
c.712G>A (p.Val238Ile)
c.964G>A (p.Val322Ile)
c.613G>A (p.Val205Ile)
 gnomAD v4 COSMIC
1g.155294644_155294652delCA1007987022PKLRc.797_805del (p.Glu266_Asp268del)
c.704_712del (p.Glu235_Asp237del)
c.956_964del (p.Glu319_Asp321del)
c.605_613del (p.Glu202_Asp204del)
 dbSNP gnomAD v3 gnomAD v4
1g.155294643G>ACA1144209PKLRc.804C>T (p.Asp268=)
c.711C>T (p.Asp237=)
c.963C>T (p.Asp321=)
c.612C>T (p.Asp204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294643G>CCA342754350PKLRc.804C>G (p.Asp268Glu)
c.711C>G (p.Asp237Glu)
c.963C>G (p.Asp321Glu)
c.612C>G (p.Asp204Glu)
1g.155294643G=CA1148006379PKLRc.804C= (p.Asp268=)
c.711C= (p.Asp237=)
c.963C= (p.Asp321=)
c.612C= (p.Asp204=)
1g.155294643G>TCA342754352PKLRc.804C>A (p.Asp268Glu)
c.711C>A (p.Asp237Glu)
c.963C>A (p.Asp321Glu)
c.612C>A (p.Asp204Glu)
 dbSNP gnomAD v4
1g.155294644T>ACA342754353PKLRc.803A>T (p.Asp268Val)
c.710A>T (p.Asp237Val)
c.962A>T (p.Asp321Val)
c.611A>T (p.Asp204Val)
1g.155294644T>CCA342754355PKLRc.803A>G (p.Asp268Gly)
c.710A>G (p.Asp237Gly)
c.962A>G (p.Asp321Gly)
c.611A>G (p.Asp204Gly)
1g.155294644T>GCA342754357PKLRc.803A>C (p.Asp268Ala)
c.710A>C (p.Asp237Ala)
c.962A>C (p.Asp321Ala)
c.611A>C (p.Asp204Ala)
1g.155294645C>ACA342754363PKLRc.802G>T (p.Asp268Tyr)
c.709G>T (p.Asp237Tyr)
c.961G>T (p.Asp321Tyr)
c.610G>T (p.Asp204Tyr)
1g.155294645C>GCA342754360PKLRc.802G>C (p.Asp268His)
c.709G>C (p.Asp237His)
c.961G>C (p.Asp321His)
c.610G>C (p.Asp204His)
1g.155294645C>TCA342754362PKLRc.802G>A (p.Asp268Asn)
c.709G>A (p.Asp237Asn)
c.961G>A (p.Asp321Asn)
c.610G>A (p.Asp204Asn)
1g.155294645_155294646insTCA2586967538PKLRc.801_802insA (p.Asp268ArgfsTer?)
c.708_709insA (p.Asp237ArgfsTer?)
c.960_961insA (p.Asp321ArgfsTer?)
c.609_610insA (p.Asp204ArgfsTer?)
1g.155294646C>ACA342754366PKLRc.801G>T (p.Gln267His)
c.708G>T (p.Gln236His)
c.960G>T (p.Gln320His)
c.609G>T (p.Gln203His)
1g.155294646C>GCA342754368PKLRc.801G>C (p.Gln267His)
c.708G>C (p.Gln236His)
c.960G>C (p.Gln320His)
c.609G>C (p.Gln203His)
1g.155294646C>TCA421245702PKLRc.801G>A (p.Gln267=)
c.708G>A (p.Gln236=)
c.960G>A (p.Gln320=)
c.609G>A (p.Gln203=)
1g.155294647T>ACA342754370PKLRc.800A>T (p.Gln267Leu)
c.707A>T (p.Gln236Leu)
c.959A>T (p.Gln320Leu)
c.608A>T (p.Gln203Leu)
1g.155294647T>CCA342754372PKLRc.800A>G (p.Gln267Arg)
c.707A>G (p.Gln236Arg)
c.959A>G (p.Gln320Arg)
c.608A>G (p.Gln203Arg)
1g.155294647T>GCA342754374PKLRc.800A>C (p.Gln267Pro)
c.707A>C (p.Gln236Pro)
c.959A>C (p.Gln320Pro)
c.608A>C (p.Gln203Pro)
1g.155294648G>ACA342754375PKLRc.799C>T (p.Gln267Ter)
c.706C>T (p.Gln236Ter)
c.958C>T (p.Gln320Ter)
c.607C>T (p.Gln203Ter)
 ClinVar dbSNP
1g.155294648G>CCA342754377PKLRc.799C>G (p.Gln267Glu)
c.706C>G (p.Gln236Glu)
c.958C>G (p.Gln320Glu)
c.607C>G (p.Gln203Glu)
1g.155294648G=CA1200112241PKLRc.799C= (p.Gln267=)
c.706C= (p.Gln236=)
c.958C= (p.Gln320=)
c.607C= (p.Gln203=)
1g.155294648G>TCA1144210PKLRc.799C>A (p.Gln267Lys)
c.706C>A (p.Gln236Lys)
c.958C>A (p.Gln320Lys)
c.607C>A (p.Gln203Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294649_155294661dupCA2648269429PKLRc.787_799dup (p.Gln267ArgfsTer?)
c.694_706dup (p.Gln236ArgfsTer?)
c.946_958dup (p.Gln320ArgfsTer?)
c.595_607dup (p.Gln203ArgfsTer?)
 gnomAD v4
1g.155294649C>ACA342754380PKLRc.798G>T (p.Glu266Asp)
c.705G>T (p.Glu235Asp)
c.957G>T (p.Glu319Asp)
c.606G>T (p.Glu202Asp)
1g.155294649C>GCA342754382PKLRc.798G>C (p.Glu266Asp)
c.705G>C (p.Glu235Asp)
c.957G>C (p.Glu319Asp)
c.606G>C (p.Glu202Asp)
1g.155294649C>TCA421245706PKLRc.798G>A (p.Glu266=)
c.705G>A (p.Glu235=)
c.957G>A (p.Glu319=)
c.606G>A (p.Glu202=)
 gnomAD v4
1g.155294650T>ACA342754386PKLRc.797A>T (p.Glu266Val)
c.704A>T (p.Glu235Val)
c.956A>T (p.Glu319Val)
c.605A>T (p.Glu202Val)
 gnomAD v4
1g.155294650T>CCA342754385PKLRc.797A>G (p.Glu266Gly)
c.704A>G (p.Glu235Gly)
c.956A>G (p.Glu319Gly)
c.605A>G (p.Glu202Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.155294650T>GCA342754384PKLRc.797A>C (p.Glu266Ala)
c.704A>C (p.Glu235Ala)
c.956A>C (p.Glu319Ala)
c.605A>C (p.Glu202Ala)
1g.155294650T=CA1200112242PKLRc.797A= (p.Glu266=)
c.704A= (p.Glu235=)
c.956A= (p.Glu319=)
c.605A= (p.Glu202=)
1g.155294651C>ACA342754387PKLRc.796G>T (p.Glu266Ter)
c.703G>T (p.Glu235Ter)
c.955G>T (p.Glu319Ter)
c.604G>T (p.Glu202Ter)
1g.155294651C=CA1200112243PKLRc.796G= (p.Glu266=)
c.703G= (p.Glu235=)
c.955G= (p.Glu319=)
c.604G= (p.Glu202=)
1g.155294651C>GCA342754388PKLRc.796G>C (p.Glu266Gln)
c.703G>C (p.Glu235Gln)
c.955G>C (p.Glu319Gln)
c.604G>C (p.Glu202Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.155294651C>TCA342754390PKLRc.796G>A (p.Glu266Lys)
c.703G>A (p.Glu235Lys)
c.955G>A (p.Glu319Lys)
c.604G>A (p.Glu202Lys)
 gnomAD v4
1g.155294652G>ACA421245709PKLRc.795C>T (p.Ser265=)
c.702C>T (p.Ser234=)
c.954C>T (p.Ser318=)
c.603C>T (p.Ser201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294652G>CCA421245710PKLRc.795C>G (p.Ser265=)
c.702C>G (p.Ser234=)
c.954C>G (p.Ser318=)
c.603C>G (p.Ser201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294652G=CA1200112244PKLRc.795C= (p.Ser265=)
c.702C= (p.Ser234=)
c.954C= (p.Ser318=)
c.603C= (p.Ser201=)
1g.155294652G>TCA421245711PKLRc.795C>A (p.Ser265=)
c.702C>A (p.Ser234=)
c.954C>A (p.Ser318=)
c.603C>A (p.Ser201=)
 gnomAD v4
1g.155294653G>ACA342754393PKLRc.794C>T (p.Ser265Phe)
c.701C>T (p.Ser234Phe)
c.953C>T (p.Ser318Phe)
c.602C>T (p.Ser201Phe)
1g.155294653G>CCA30903364PKLRc.794C>G (p.Ser265Cys)
c.701C>G (p.Ser234Cys)
c.953C>G (p.Ser318Cys)
c.602C>G (p.Ser201Cys)
 dbSNP
1g.155294653G=CA1200112245PKLRc.794C= (p.Ser265=)
c.701C= (p.Ser234=)
c.953C= (p.Ser318=)
c.602C= (p.Ser201=)
1g.155294653G>TCA342754395PKLRc.794C>A (p.Ser265Tyr)
c.701C>A (p.Ser234Tyr)
c.953C>A (p.Ser318Tyr)
c.602C>A (p.Ser201Tyr)
1g.155294654A>CCA342754397PKLRc.793T>G (p.Ser265Ala)
c.700T>G (p.Ser234Ala)
c.952T>G (p.Ser318Ala)
c.601T>G (p.Ser201Ala)
1g.155294654A>GCA342754398PKLRc.793T>C (p.Ser265Pro)
c.700T>C (p.Ser234Pro)
c.952T>C (p.Ser318Pro)
c.601T>C (p.Ser201Pro)
1g.155294654A>TCA342754401PKLRc.793T>A (p.Ser265Thr)
c.700T>A (p.Ser234Thr)
c.952T>A (p.Ser318Thr)
c.601T>A (p.Ser201Thr)
1g.155294655C>ACA421245712PKLRc.792G>T (p.Leu264=)
c.699G>T (p.Leu233=)
c.951G>T (p.Leu317=)
c.600G>T (p.Leu200=)
1g.155294655C=CA1200112246PKLRc.792G= (p.Leu264=)
c.699G= (p.Leu233=)
c.951G= (p.Leu317=)
c.600G= (p.Leu200=)
1g.155294655C>GCA421245713PKLRc.792G>C (p.Leu264=)
c.699G>C (p.Leu233=)
c.951G>C (p.Leu317=)
c.600G>C (p.Leu200=)
 dbSNP gnomAD v4
1g.155294655C>TCA421245714PKLRc.792G>A (p.Leu264=)
c.699G>A (p.Leu233=)
c.951G>A (p.Leu317=)
c.600G>A (p.Leu200=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294656_155294660delCA2586967539PKLRc.788_792del (p.Gly263ValfsTer?)
c.695_699del (p.Gly232ValfsTer?)
c.947_951del (p.Gly316ValfsTer?)
c.596_600del (p.Gly199ValfsTer?)
1g.155294656A>CCA342754403PKLRc.791T>G (p.Leu264Arg)
c.698T>G (p.Leu233Arg)
c.950T>G (p.Leu317Arg)
c.599T>G (p.Leu200Arg)
1g.155294656A>GCA342754405PKLRc.791T>C (p.Leu264Pro)
c.698T>C (p.Leu233Pro)
c.950T>C (p.Leu317Pro)
c.599T>C (p.Leu200Pro)
 gnomAD v4
1g.155294656A>TCA342754412PKLRc.791T>A (p.Leu264Gln)
c.698T>A (p.Leu233Gln)
c.950T>A (p.Leu317Gln)
c.599T>A (p.Leu200Gln)
1g.155294657G>ACA1144211PKLRc.790C>T (p.Leu264=)
c.697C>T (p.Leu233=)
c.949C>T (p.Leu317=)
c.598C>T (p.Leu200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294657G>CCA342754418PKLRc.790C>G (p.Leu264Val)
c.697C>G (p.Leu233Val)
c.949C>G (p.Leu317Val)
c.598C>G (p.Leu200Val)
1g.155294657G=CA1143386169PKLRc.790C= (p.Leu264=)
c.697C= (p.Leu233=)
c.949C= (p.Leu317=)
c.598C= (p.Leu200=)
1g.155294657G>TCA342754415PKLRc.790C>A (p.Leu264Met)
c.697C>A (p.Leu233Met)
c.949C>A (p.Leu317Met)
c.598C>A (p.Leu200Met)
1g.155294658C>ACA421245716PKLRc.789G>T (p.Gly263=)
c.696G>T (p.Gly232=)
c.948G>T (p.Gly316=)
c.597G>T (p.Gly199=)
 dbSNP gnomAD v4
1g.155294658C=CA1200112247PKLRc.789G= (p.Gly263=)
c.696G= (p.Gly232=)
c.948G= (p.Gly316=)
c.597G= (p.Gly199=)
1g.155294658C>GCA421245715PKLRc.789G>C (p.Gly263=)
c.696G>C (p.Gly232=)
c.948G>C (p.Gly316=)
c.597G>C (p.Gly199=)
1g.155294658C>TCA421245717PKLRc.789G>A (p.Gly263=)
c.696G>A (p.Gly232=)
c.948G>A (p.Gly316=)
c.597G>A (p.Gly199=)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched