Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155294683G>ACA342754536PKLRc.764C>T (p.Pro255Leu)
c.671C>T (p.Pro224Leu)
c.923C>T (p.Pro308Leu)
c.572C>T (p.Pro191Leu)
1g.155294683G>CCA342754531PKLRc.764C>G (p.Pro255Arg)
c.671C>G (p.Pro224Arg)
c.923C>G (p.Pro308Arg)
c.572C>G (p.Pro191Arg)
1g.155294683G=CA1200112260PKLRc.764C= (p.Pro255=)
c.671C= (p.Pro224=)
c.923C= (p.Pro308=)
c.572C= (p.Pro191=)
1g.155294683G>TCA342754534PKLRc.764C>A (p.Pro255Gln)
c.671C>A (p.Pro224Gln)
c.923C>A (p.Pro308Gln)
c.572C>A (p.Pro191Gln)
 dbSNP
1g.155294684G>ACA342754538PKLRc.763C>T (p.Pro255Ser)
c.670C>T (p.Pro224Ser)
c.922C>T (p.Pro308Ser)
c.571C>T (p.Pro191Ser)
1g.155294684G>CCA342754540PKLRc.763C>G (p.Pro255Ala)
c.670C>G (p.Pro224Ala)
c.922C>G (p.Pro308Ala)
c.571C>G (p.Pro191Ala)
1g.155294684G>TCA342754541PKLRc.763C>A (p.Pro255Thr)
c.670C>A (p.Pro224Thr)
c.922C>A (p.Pro308Thr)
c.571C>A (p.Pro191Thr)
1g.155294685C>ACA342754543PKLRc.762G>T (p.Leu254Phe)
c.669G>T (p.Leu223Phe)
c.921G>T (p.Leu307Phe)
c.570G>T (p.Leu190Phe)
1g.155294685C=CA1200112261PKLRc.762G= (p.Leu254=)
c.669G= (p.Leu223=)
c.921G= (p.Leu307=)
c.570G= (p.Leu190=)
1g.155294685C>GCA342754544PKLRc.762G>C (p.Leu254Phe)
c.669G>C (p.Leu223Phe)
c.921G>C (p.Leu307Phe)
c.570G>C (p.Leu190Phe)
 ClinVar dbSNP
1g.155294685C>TCA30903412PKLRc.762G>A (p.Leu254=)
c.669G>A (p.Leu223=)
c.921G>A (p.Leu307=)
c.570G>A (p.Leu190=)
 dbSNP
1g.155294686A>CCA342754546PKLRc.761T>G (p.Leu254Trp)
c.668T>G (p.Leu223Trp)
c.920T>G (p.Leu307Trp)
c.569T>G (p.Leu190Trp)
1g.155294686A>GCA342754549PKLRc.761T>C (p.Leu254Ser)
c.668T>C (p.Leu223Ser)
c.920T>C (p.Leu307Ser)
c.569T>C (p.Leu190Ser)
1g.155294686A>TCA342754548PKLRc.761T>A (p.Leu254Ter)
c.668T>A (p.Leu223Ter)
c.920T>A (p.Leu307Ter)
c.569T>A (p.Leu190Ter)
1g.155294687A>CCA342754552PKLRc.760T>G (p.Leu254Val)
c.667T>G (p.Leu223Val)
c.919T>G (p.Leu307Val)
c.568T>G (p.Leu190Val)
1g.155294687A>GCA421245757PKLRc.760T>C (p.Leu254=)
c.667T>C (p.Leu223=)
c.919T>C (p.Leu307=)
c.568T>C (p.Leu190=)
1g.155294687A>TCA342754554PKLRc.760T>A (p.Leu254Met)
c.667T>A (p.Leu223Met)
c.919T>A (p.Leu307Met)
c.568T>A (p.Leu190Met)
1g.155294688G>ACA1144219PKLRc.759C>T (p.Asn253=)
c.666C>T (p.Asn222=)
c.918C>T (p.Asn306=)
c.567C>T (p.Asn189=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294688G>CCA342754557PKLRc.759C>G (p.Asn253Lys)
c.666C>G (p.Asn222Lys)
c.918C>G (p.Asn306Lys)
c.567C>G (p.Asn189Lys)
1g.155294688G=CA1200112262PKLRc.759C= (p.Asn253=)
c.666C= (p.Asn222=)
c.918C= (p.Asn306=)
c.567C= (p.Asn189=)
1g.155294688G>TCA342754559PKLRc.759C>A (p.Asn253Lys)
c.666C>A (p.Asn222Lys)
c.918C>A (p.Asn306Lys)
c.567C>A (p.Asn189Lys)
 gnomAD v4
1g.155294689T>ACA342754561PKLRc.758A>T (p.Asn253Ile)
c.665A>T (p.Asn222Ile)
c.917A>T (p.Asn306Ile)
c.566A>T (p.Asn189Ile)
1g.155294689T>CCA342754563PKLRc.758A>G (p.Asn253Ser)
c.665A>G (p.Asn222Ser)
c.917A>G (p.Asn306Ser)
c.566A>G (p.Asn189Ser)
1g.155294689T>GCA342754564PKLRc.758A>C (p.Asn253Thr)
c.665A>C (p.Asn222Thr)
c.917A>C (p.Asn306Thr)
c.566A>C (p.Asn189Thr)
1g.155294689_155294690delCA2648269434PKLRc.757_758del (p.Asn253LeufsTer?)
c.664_665del (p.Asn222LeufsTer?)
c.916_917del (p.Asn306LeufsTer?)
c.565_566del (p.Asn189LeufsTer?)
 gnomAD v4
1g.155294690T>ACA342754567PKLRc.757A>T (p.Asn253Tyr)
c.664A>T (p.Asn222Tyr)
c.916A>T (p.Asn306Tyr)
c.565A>T (p.Asn189Tyr)
 dbSNP
1g.155294690T>CCA342754569PKLRc.757A>G (p.Asn253Asp)
c.664A>G (p.Asn222Asp)
c.916A>G (p.Asn306Asp)
c.565A>G (p.Asn189Asp)
1g.155294690T>GCA342754570PKLRc.757A>C (p.Asn253His)
c.664A>C (p.Asn222His)
c.916A>C (p.Asn306His)
c.565A>C (p.Asn189His)
1g.155294690T=CA1200112263PKLRc.757A= (p.Asn253=)
c.664A= (p.Asn222=)
c.916A= (p.Asn306=)
c.565A= (p.Asn189=)
1g.155294691C>ACA421245761PKLRc.756G>T (p.Val252=)
c.663G>T (p.Val221=)
c.915G>T (p.Val305=)
c.564G>T (p.Val188=)
1g.155294691C=CA1148559084PKLRc.756G= (p.Val252=)
c.663G= (p.Val221=)
c.915G= (p.Val305=)
c.564G= (p.Val188=)
1g.155294691C>GCA1144220PKLRc.756G>C (p.Val252=)
c.663G>C (p.Val221=)
c.915G>C (p.Val305=)
c.564G>C (p.Val188=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294691C>TCA421245762PKLRc.756G>A (p.Val252=)
c.663G>A (p.Val221=)
c.915G>A (p.Val305=)
c.564G>A (p.Val188=)
1g.155294692A>CCA342754575PKLRc.755T>G (p.Val252Gly)
c.662T>G (p.Val221Gly)
c.914T>G (p.Val305Gly)
c.563T>G (p.Val188Gly)
1g.155294692A>GCA342754578PKLRc.755T>C (p.Val252Ala)
c.662T>C (p.Val221Ala)
c.914T>C (p.Val305Ala)
c.563T>C (p.Val188Ala)
1g.155294692A>TCA342754574PKLRc.755T>A (p.Val252Glu)
c.662T>A (p.Val221Glu)
c.914T>A (p.Val305Glu)
c.563T>A (p.Val188Glu)
1g.155294693C>ACA342754581PKLRc.754G>T (p.Val252Leu)
c.661G>T (p.Val221Leu)
c.913G>T (p.Val305Leu)
c.562G>T (p.Val188Leu)
1g.155294693C=CA1200112264PKLRc.754G= (p.Val252=)
c.661G= (p.Val221=)
c.913G= (p.Val305=)
c.562G= (p.Val188=)
1g.155294693C>GCA342754584PKLRc.754G>C (p.Val252Leu)
c.661G>C (p.Val221Leu)
c.913G>C (p.Val305Leu)
c.562G>C (p.Val188Leu)
1g.155294693C>TCA342754583PKLRc.754G>A (p.Val252Met)
c.661G>A (p.Val221Met)
c.913G>A (p.Val305Met)
c.562G>A (p.Val188Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155294694G>ACA421245769PKLRc.753C>T (p.Gly251=)
c.660C>T (p.Gly220=)
c.912C>T (p.Gly304=)
c.561C>T (p.Gly187=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294694G>CCA421245770PKLRc.753C>G (p.Gly251=)
c.660C>G (p.Gly220=)
c.912C>G (p.Gly304=)
c.561C>G (p.Gly187=)
1g.155294694G=CA1200112265PKLRc.753C= (p.Gly251=)
c.660C= (p.Gly220=)
c.912C= (p.Gly304=)
c.561C= (p.Gly187=)
1g.155294694G>TCA421245771PKLRc.753C>A (p.Gly251=)
c.660C>A (p.Gly220=)
c.912C>A (p.Gly304=)
c.561C>A (p.Gly187=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294695C>ACA342754588PKLRc.752G>T (p.Gly251Val)
c.659G>T (p.Gly220Val)
c.911G>T (p.Gly304Val)
c.560G>T (p.Gly187Val)
1g.155294695C>GCA342754589PKLRc.752G>C (p.Gly251Ala)
c.659G>C (p.Gly220Ala)
c.911G>C (p.Gly304Ala)
c.560G>C (p.Gly187Ala)
1g.155294695C>TCA342754590PKLRc.752G>A (p.Gly251Asp)
c.659G>A (p.Gly220Asp)
c.911G>A (p.Gly304Asp)
c.560G>A (p.Gly187Asp)
1g.155294696C>ACA30903450PKLRc.751G>T (p.Gly251Cys)
c.658G>T (p.Gly220Cys)
c.910G>T (p.Gly304Cys)
c.559G>T (p.Gly187Cys)
 dbSNP gnomAD v2
1g.155294696C=CA1143536925PKLRc.751G= (p.Gly251=)
c.658G= (p.Gly220=)
c.910G= (p.Gly304=)
c.559G= (p.Gly187=)
1g.155294696C>GCA342754593PKLRc.751G>C (p.Gly251Arg)
c.658G>C (p.Gly220Arg)
c.910G>C (p.Gly304Arg)
c.559G>C (p.Gly187Arg)
1g.155294696C>TCA30903451PKLRc.751G>A (p.Gly251Ser)
c.658G>A (p.Gly220Ser)
c.910G>A (p.Gly304Ser)
c.559G>A (p.Gly187Ser)
 dbSNP COSMIC
1g.155294697C>ACA342754596PKLRc.750G>T (p.Lys250Asn)
c.657G>T (p.Lys219Asn)
c.909G>T (p.Lys303Asn)
c.558G>T (p.Lys186Asn)
1g.155294697C>GCA342754598PKLRc.750G>C (p.Lys250Asn)
c.657G>C (p.Lys219Asn)
c.909G>C (p.Lys303Asn)
c.558G>C (p.Lys186Asn)
1g.155294697C>TCA421245777PKLRc.750G>A (p.Lys250=)
c.657G>A (p.Lys219=)
c.909G>A (p.Lys303=)
c.558G>A (p.Lys186=)
 dbSNP
1g.155294698T>ACA342754600PKLRc.749A>T (p.Lys250Met)
c.656A>T (p.Lys219Met)
c.908A>T (p.Lys303Met)
c.557A>T (p.Lys186Met)
1g.155294698T>CCA342754602PKLRc.749A>G (p.Lys250Arg)
c.656A>G (p.Lys219Arg)
c.908A>G (p.Lys303Arg)
c.557A>G (p.Lys186Arg)
1g.155294698T>GCA342754603PKLRc.749A>C (p.Lys250Thr)
c.656A>C (p.Lys219Thr)
c.908A>C (p.Lys303Thr)
c.557A>C (p.Lys186Thr)
1g.155294699T>ACA342754609PKLRc.748A>T (p.Lys250Ter)
c.655A>T (p.Lys219Ter)
c.907A>T (p.Lys303Ter)
c.556A>T (p.Lys186Ter)
1g.155294699T>CCA342754606PKLRc.748A>G (p.Lys250Glu)
c.655A>G (p.Lys219Glu)
c.907A>G (p.Lys303Glu)
c.556A>G (p.Lys186Glu)
 gnomAD v4
1g.155294699T>GCA342754607PKLRc.748A>C (p.Lys250Gln)
c.655A>C (p.Lys219Gln)
c.907A>C (p.Lys303Gln)
c.556A>C (p.Lys186Gln)
 gnomAD v4
1g.155294700C>ACA421245784PKLRc.747G>T (p.Arg249=)
c.654G>T (p.Arg218=)
c.906G>T (p.Arg302=)
c.555G>T (p.Arg185=)
 dbSNP
1g.155294700C=CA1200112266PKLRc.747G= (p.Arg249=)
c.654G= (p.Arg218=)
c.906G= (p.Arg302=)
c.555G= (p.Arg185=)
1g.155294700C>GCA421245779PKLRc.747G>C (p.Arg249=)
c.654G>C (p.Arg218=)
c.906G>C (p.Arg302=)
c.555G>C (p.Arg185=)
1g.155294700C>TCA1144221PKLRc.747G>A (p.Arg249=)
c.654G>A (p.Arg218=)
c.906G>A (p.Arg302=)
c.555G>A (p.Arg185=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294701C>ACA342754612PKLRc.746G>T (p.Arg249Leu)
c.653G>T (p.Arg218Leu)
c.905G>T (p.Arg302Leu)
c.554G>T (p.Arg185Leu)
1g.155294701C=CA1143623448PKLRc.746G= (p.Arg249=)
c.653G= (p.Arg218=)
c.905G= (p.Arg302=)
c.554G= (p.Arg185=)
1g.155294701C>GCA342754614PKLRc.746G>C (p.Arg249Pro)
c.653G>C (p.Arg218Pro)
c.905G>C (p.Arg302Pro)
c.554G>C (p.Arg185Pro)
1g.155294701C>TCA1144222PKLRc.746G>A (p.Arg249Gln)
c.653G>A (p.Arg218Gln)
c.905G>A (p.Arg302Gln)
c.554G>A (p.Arg185Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294702G>ACA1144223PKLRc.745C>T (p.Arg249Trp)
c.652C>T (p.Arg218Trp)
c.904C>T (p.Arg302Trp)
c.553C>T (p.Arg185Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294702G>CCA342754618PKLRc.745C>G (p.Arg249Gly)
c.652C>G (p.Arg218Gly)
c.904C>G (p.Arg302Gly)
c.553C>G (p.Arg185Gly)
1g.155294702G=CA1149054015PKLRc.745C= (p.Arg249=)
c.652C= (p.Arg218=)
c.904C= (p.Arg302=)
c.553C= (p.Arg185=)
1g.155294702G>TCA421245788PKLRc.745C>A (p.Arg249=)
c.652C>A (p.Arg218=)
c.904C>A (p.Arg302=)
c.553C>A (p.Arg185=)
1g.155294703G>ACA30903476PKLRc.744C>T (p.Ser248=)
c.651C>T (p.Ser217=)
c.903C>T (p.Ser301=)
c.552C>T (p.Ser184=)
 dbSNP
1g.155294703G>CCA342754619PKLRc.744C>G (p.Ser248Arg)
c.651C>G (p.Ser217Arg)
c.903C>G (p.Ser301Arg)
c.552C>G (p.Ser184Arg)
 gnomAD v4
1g.155294703G=CA1200112267PKLRc.744C= (p.Ser248=)
c.651C= (p.Ser217=)
c.903C= (p.Ser301=)
c.552C= (p.Ser184=)
1g.155294703G>TCA342754621PKLRc.744C>A (p.Ser248Arg)
c.651C>A (p.Ser217Arg)
c.903C>A (p.Ser301Arg)
c.552C>A (p.Ser184Arg)
1g.155294704C>ACA342754623PKLRc.743G>T (p.Ser248Ile)
c.650G>T (p.Ser217Ile)
c.902G>T (p.Ser301Ile)
c.551G>T (p.Ser184Ile)
1g.155294704C>GCA342754625PKLRc.743G>C (p.Ser248Thr)
c.650G>C (p.Ser217Thr)
c.902G>C (p.Ser301Thr)
c.551G>C (p.Ser184Thr)
1g.155294704C>TCA342754627PKLRc.743G>A (p.Ser248Asn)
c.650G>A (p.Ser217Asn)
c.902G>A (p.Ser301Asn)
c.551G>A (p.Ser184Asn)
1g.155294705T>ACA342754631PKLRc.742A>T (p.Ser248Cys)
c.649A>T (p.Ser217Cys)
c.901A>T (p.Ser301Cys)
c.550A>T (p.Ser184Cys)
1g.155294705T>CCA342754633PKLRc.742A>G (p.Ser248Gly)
c.649A>G (p.Ser217Gly)
c.901A>G (p.Ser301Gly)
c.550A>G (p.Ser184Gly)
1g.155294705T>GCA342754629PKLRc.742A>C (p.Ser248Arg)
c.649A>C (p.Ser217Arg)
c.901A>C (p.Ser301Arg)
c.550A>C (p.Ser184Arg)
1g.155294706G>ACA421245791PKLRc.741C>T (p.Gly247=)
c.648C>T (p.Gly216=)
c.900C>T (p.Gly300=)
c.549C>T (p.Gly183=)
 dbSNP gnomAD v2
1g.155294706G>CCA421245793PKLRc.741C>G (p.Gly247=)
c.648C>G (p.Gly216=)
c.900C>G (p.Gly300=)
c.549C>G (p.Gly183=)
1g.155294706G=CA1200112268PKLRc.741C= (p.Gly247=)
c.648C= (p.Gly216=)
c.900C= (p.Gly300=)
c.549C= (p.Gly183=)
1g.155294706G>TCA421245796PKLRc.741C>A (p.Gly247=)
c.648C>A (p.Gly216=)
c.900C>A (p.Gly300=)
c.549C>A (p.Gly183=)
1g.155294707C>ACA342754636PKLRc.740G>T (p.Gly247Val)
c.647G>T (p.Gly216Val)
c.899G>T (p.Gly300Val)
c.548G>T (p.Gly183Val)
1g.155294707C=CA1200112269PKLRc.740G= (p.Gly247=)
c.647G= (p.Gly216=)
c.899G= (p.Gly300=)
c.548G= (p.Gly183=)
1g.155294707C>GCA342754637PKLRc.740G>C (p.Gly247Ala)
c.647G>C (p.Gly216Ala)
c.899G>C (p.Gly300Ala)
c.548G>C (p.Gly183Ala)
1g.155294707C>TCA342754639PKLRc.740G>A (p.Gly247Asp)
c.647G>A (p.Gly216Asp)
c.899G>A (p.Gly300Asp)
c.548G>A (p.Gly183Asp)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.155294708C>ACA342754641PKLRc.739G>T (p.Gly247Cys)
c.646G>T (p.Gly216Cys)
c.898G>T (p.Gly300Cys)
c.547G>T (p.Gly183Cys)
1g.155294708C=CA1200112270PKLRc.739G= (p.Gly247=)
c.646G= (p.Gly216=)
c.898G= (p.Gly300=)
c.547G= (p.Gly183=)
1g.155294708C>GCA342754643PKLRc.739G>C (p.Gly247Arg)
c.646G>C (p.Gly216Arg)
c.898G>C (p.Gly300Arg)
c.547G>C (p.Gly183Arg)
 gnomAD v4
1g.155294708C>TCA342754645PKLRc.739G>A (p.Gly247Ser)
c.646G>A (p.Gly216Ser)
c.898G>A (p.Gly300Ser)
c.547G>A (p.Gly183Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.155294709C>ACA421245799PKLRc.738G>T (p.Leu246=)
c.645G>T (p.Leu215=)
c.897G>T (p.Leu299=)
c.546G>T (p.Leu182=)
1g.155294709C>GCA421245801PKLRc.738G>C (p.Leu246=)
c.645G>C (p.Leu215=)
c.897G>C (p.Leu299=)
c.546G>C (p.Leu182=)
1g.155294709C>TCA421245803PKLRc.738G>A (p.Leu246=)
c.645G>A (p.Leu215=)
c.897G>A (p.Leu299=)
c.546G>A (p.Leu182=)
1g.155294710A>CCA342754651PKLRc.737T>G (p.Leu246Arg)
c.644T>G (p.Leu215Arg)
c.896T>G (p.Leu299Arg)
c.545T>G (p.Leu182Arg)
1g.155294710A>GCA342754647PKLRc.737T>C (p.Leu246Pro)
c.644T>C (p.Leu215Pro)
c.896T>C (p.Leu299Pro)
c.545T>C (p.Leu182Pro)
1g.155294710A>TCA342754649PKLRc.737T>A (p.Leu246Gln)
c.644T>A (p.Leu215Gln)
c.896T>A (p.Leu299Gln)
c.545T>A (p.Leu182Gln)
1g.155294711G>ACA421245807PKLRc.736C>T (p.Leu246=)
c.643C>T (p.Leu215=)
c.895C>T (p.Leu299=)
c.544C>T (p.Leu182=)
1g.155294711G>CCA342754652PKLRc.736C>G (p.Leu246Val)
c.643C>G (p.Leu215Val)
c.895C>G (p.Leu299Val)
c.544C>G (p.Leu182Val)
1g.155294711G>TCA342754653PKLRc.736C>A (p.Leu246Met)
c.643C>A (p.Leu215Met)
c.895C>A (p.Leu299Met)
c.544C>A (p.Leu182Met)
1g.155294712G>ACA421245808PKLRc.735C>T (p.Val245=)
c.642C>T (p.Val214=)
c.894C>T (p.Val298=)
c.543C>T (p.Val181=)
1g.155294712G>CCA421245810PKLRc.735C>G (p.Val245=)
c.642C>G (p.Val214=)
c.894C>G (p.Val298=)
c.543C>G (p.Val181=)
1g.155294712G>TCA421245813PKLRc.735C>A (p.Val245=)
c.642C>A (p.Val214=)
c.894C>A (p.Val298=)
c.543C>A (p.Val181=)
1g.155294713A>CCA342754656PKLRc.734T>G (p.Val245Gly)
c.641T>G (p.Val214Gly)
c.893T>G (p.Val298Gly)
c.542T>G (p.Val181Gly)
1g.155294713A>GCA342754657PKLRc.734T>C (p.Val245Ala)
c.641T>C (p.Val214Ala)
c.893T>C (p.Val298Ala)
c.542T>C (p.Val181Ala)
1g.155294713A>TCA342754659PKLRc.734T>A (p.Val245Asp)
c.641T>A (p.Val214Asp)
c.893T>A (p.Val298Asp)
c.542T>A (p.Val181Asp)
1g.155294714C>ACA342754661PKLRc.733G>T (p.Val245Phe)
c.640G>T (p.Val214Phe)
c.892G>T (p.Val298Phe)
c.541G>T (p.Val181Phe)
1g.155294714C=CA1146403765PKLRc.733G= (p.Val245=)
c.640G= (p.Val214=)
c.892G= (p.Val298=)
c.541G= (p.Val181=)
1g.155294714C>GCA342754664PKLRc.733G>C (p.Val245Leu)
c.640G>C (p.Val214Leu)
c.892G>C (p.Val298Leu)
c.541G>C (p.Val181Leu)
1g.155294714C>TCA1144224PKLRc.733G>A (p.Val245Ile)
c.640G>A (p.Val214Ile)
c.892G>A (p.Val298Ile)
c.541G>A (p.Val181Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294715_155294724delCA2586967540PKLRc.724_733del (p.Asn242SerfsTer8)
c.631_640del (p.Asn211SerfsTer8)
c.883_892del (p.Asn295SerfsTer8)
c.532_541del (p.Asn178SerfsTer8)
1g.155294715G>ACA421245821PKLRc.732C>T (p.Gly244=)
c.639C>T (p.Gly213=)
c.891C>T (p.Gly297=)
c.540C>T (p.Gly180=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294715G>CCA421245818PKLRc.732C>G (p.Gly244=)
c.639C>G (p.Gly213=)
c.891C>G (p.Gly297=)
c.540C>G (p.Gly180=)
1g.155294715G=CA1200112271PKLRc.732C= (p.Gly244=)
c.639C= (p.Gly213=)
c.891C= (p.Gly297=)
c.540C= (p.Gly180=)
1g.155294715G>TCA421245819PKLRc.732C>A (p.Gly244=)
c.639C>A (p.Gly213=)
c.891C>A (p.Gly297=)
c.540C>A (p.Gly180=)
 gnomAD v4
1g.155294716C>ACA342754666PKLRc.731G>T (p.Gly244Val)
c.638G>T (p.Gly213Val)
c.890G>T (p.Gly297Val)
c.539G>T (p.Gly180Val)
1g.155294716C=CA1200112272PKLRc.731G= (p.Gly244=)
c.638G= (p.Gly213=)
c.890G= (p.Gly297=)
c.539G= (p.Gly180=)
1g.155294716C>GCA342754668PKLRc.731G>C (p.Gly244Ala)
c.638G>C (p.Gly213Ala)
c.890G>C (p.Gly297Ala)
c.539G>C (p.Gly180Ala)
1g.155294716C>TCA1144225PKLRc.731G>A (p.Gly244Asp)
c.638G>A (p.Gly213Asp)
c.890G>A (p.Gly297Asp)
c.539G>A (p.Gly180Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294717C>ACA342754671PKLRc.730G>T (p.Gly244Cys)
c.637G>T (p.Gly213Cys)
c.889G>T (p.Gly297Cys)
c.538G>T (p.Gly180Cys)
 gnomAD v4
1g.155294717C=CA1200112273PKLRc.730G= (p.Gly244=)
c.637G= (p.Gly213=)
c.889G= (p.Gly297=)
c.538G= (p.Gly180=)
1g.155294717C>GCA342754673PKLRc.730G>C (p.Gly244Arg)
c.637G>C (p.Gly213Arg)
c.889G>C (p.Gly297Arg)
c.538G>C (p.Gly180Arg)
1g.155294717C>TCA30903497PKLRc.730G>A (p.Gly244Ser)
c.637G>A (p.Gly213Ser)
c.889G>A (p.Gly297Ser)
c.538G>A (p.Gly180Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294718G>ACA421245824PKLRc.729C>T (p.Gly243=)
c.636C>T (p.Gly212=)
c.888C>T (p.Gly296=)
c.537C>T (p.Gly179=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.155294718G>CCA421245826PKLRc.729C>G (p.Gly243=)
c.636C>G (p.Gly212=)
c.888C>G (p.Gly296=)
c.537C>G (p.Gly179=)
1g.155294718G=CA1200112274PKLRc.729C= (p.Gly243=)
c.636C= (p.Gly212=)
c.888C= (p.Gly296=)
c.537C= (p.Gly179=)
1g.155294718G>TCA421245828PKLRc.729C>A (p.Gly243=)
c.636C>A (p.Gly212=)
c.888C>A (p.Gly296=)
c.537C>A (p.Gly179=)
1g.155294719C>ACA342754677PKLRc.728G>T (p.Gly243Val)
c.635G>T (p.Gly212Val)
c.887G>T (p.Gly296Val)
c.536G>T (p.Gly179Val)
 dbSNP gnomAD v2 gnomAD v4
1g.155294719C=CA1200112275PKLRc.728G= (p.Gly243=)
c.635G= (p.Gly212=)
c.887G= (p.Gly296=)
c.536G= (p.Gly179=)
1g.155294719C>GCA342754679PKLRc.728G>C (p.Gly243Ala)
c.635G>C (p.Gly212Ala)
c.887G>C (p.Gly296Ala)
c.536G>C (p.Gly179Ala)
1g.155294719C>TCA342754681PKLRc.728G>A (p.Gly243Asp)
c.635G>A (p.Gly212Asp)
c.887G>A (p.Gly296Asp)
c.536G>A (p.Gly179Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.155294720C>ACA342754685PKLRc.727G>T (p.Gly243Cys)
c.634G>T (p.Gly212Cys)
c.886G>T (p.Gly296Cys)
c.535G>T (p.Gly179Cys)
 ClinVar
1g.155294720C=CA1148262846PKLRc.727G= (p.Gly243=)
c.634G= (p.Gly212=)
c.886G= (p.Gly296=)
c.535G= (p.Gly179=)
1g.155294720C>GCA342754688PKLRc.727G>C (p.Gly243Arg)
c.634G>C (p.Gly212Arg)
c.886G>C (p.Gly296Arg)
c.535G>C (p.Gly179Arg)
 ClinVar gnomAD v4
1g.155294720C>TCA1144226PKLRc.727G>A (p.Gly243Ser)
c.634G>A (p.Gly212Ser)
c.886G>A (p.Gly296Ser)
c.535G>A (p.Gly179Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294721G>ACA1144227PKLRc.726C>T (p.Asn242=)
c.633C>T (p.Asn211=)
c.885C>T (p.Asn295=)
c.534C>T (p.Asn178=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294721G>CCA342754693PKLRc.726C>G (p.Asn242Lys)
c.633C>G (p.Asn211Lys)
c.885C>G (p.Asn295Lys)
c.534C>G (p.Asn178Lys)
1g.155294721G=CA1200112276PKLRc.726C= (p.Asn242=)
c.633C= (p.Asn211=)
c.885C= (p.Asn295=)
c.534C= (p.Asn178=)
1g.155294721G>TCA342754691PKLRc.726C>A (p.Asn242Lys)
c.633C>A (p.Asn211Lys)
c.885C>A (p.Asn295Lys)
c.534C>A (p.Asn178Lys)
1g.155294722T>ACA342754694PKLRc.725A>T (p.Asn242Ile)
c.632A>T (p.Asn211Ile)
c.884A>T (p.Asn295Ile)
c.533A>T (p.Asn178Ile)
1g.155294722T>CCA342754695PKLRc.725A>G (p.Asn242Ser)
c.632A>G (p.Asn211Ser)
c.884A>G (p.Asn295Ser)
c.533A>G (p.Asn178Ser)
1g.155294722T>GCA342754696PKLRc.725A>C (p.Asn242Thr)
c.632A>C (p.Asn211Thr)
c.884A>C (p.Asn295Thr)
c.533A>C (p.Asn178Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.155294722T=CA1200112277PKLRc.725A= (p.Asn242=)
c.632A= (p.Asn211=)
c.884A= (p.Asn295=)
c.533A= (p.Asn178=)
1g.155294723T>ACA342754699PKLRc.724A>T (p.Asn242Tyr)
c.631A>T (p.Asn211Tyr)
c.883A>T (p.Asn295Tyr)
c.532A>T (p.Asn178Tyr)
1g.155294723T>CCA342754701PKLRc.724A>G (p.Asn242Asp)
c.631A>G (p.Asn211Asp)
c.883A>G (p.Asn295Asp)
c.532A>G (p.Asn178Asp)
1g.155294723T>GCA342754702PKLRc.724A>C (p.Asn242His)
c.631A>C (p.Asn211His)
c.883A>C (p.Asn295His)
c.532A>C (p.Asn178His)
1g.155294724C>ACA342754704PKLRc.723G>T (p.Glu241Asp)
c.630G>T (p.Glu210Asp)
c.882G>T (p.Glu294Asp)
c.531G>T (p.Glu177Asp)
1g.155294724C>GCA342754706PKLRc.723G>C (p.Glu241Asp)
c.630G>C (p.Glu210Asp)
c.882G>C (p.Glu294Asp)
c.531G>C (p.Glu177Asp)
1g.155294724C>TCA421020441PKLRc.723G>A (p.Glu241=)
c.630G>A (p.Glu210=)
c.882G>A (p.Glu294=)
c.531G>A (p.Glu177=)
1g.155294725T>ACA1144228PKLRc.722A>T (p.Glu241Val)
c.629A>T (p.Glu210Val)
c.881A>T (p.Glu294Val)
c.530A>T (p.Glu177Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294725T>CCA342754710PKLRc.722A>G (p.Glu241Gly)
c.629A>G (p.Glu210Gly)
c.881A>G (p.Glu294Gly)
c.530A>G (p.Glu177Gly)
 gnomAD v4
1g.155294725T>GCA342754712PKLRc.722A>C (p.Glu241Ala)
c.629A>C (p.Glu210Ala)
c.881A>C (p.Glu294Ala)
c.530A>C (p.Glu177Ala)
1g.155294725T=CA1200112278PKLRc.722A= (p.Glu241=)
c.629A= (p.Glu210=)
c.881A= (p.Glu294=)
c.530A= (p.Glu177=)
1g.155294726C>ACA1144229PKLRc.721G>T (p.Glu241Ter)
c.628G>T (p.Glu210Ter)
c.880G>T (p.Glu294Ter)
c.529G>T (p.Glu177Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294726C=CA1143516348PKLRc.721G= (p.Glu241=)
c.628G= (p.Glu210=)
c.880G= (p.Glu294=)
c.529G= (p.Glu177=)
1g.155294726C>GCA342754715PKLRc.721G>C (p.Glu241Gln)
c.628G>C (p.Glu210Gln)
c.880G>C (p.Glu294Gln)
c.529G>C (p.Glu177Gln)
1g.155294726C>TCA342754717PKLRc.721G>A (p.Glu241Lys)
c.628G>A (p.Glu210Lys)
c.880G>A (p.Glu294Lys)
c.529G>A (p.Glu177Lys)
1g.155294727C>ACA421020442PKLRc.720G>T (p.Val240=)
c.627G>T (p.Val209=)
c.879G>T (p.Val293=)
c.528G>T (p.Val176=)
1g.155294727C>GCA421020443PKLRc.720G>C (p.Val240=)
c.627G>C (p.Val209=)
c.879G>C (p.Val293=)
c.528G>C (p.Val176=)
1g.155294727C>TCA421020444PKLRc.720G>A (p.Val240=)
c.627G>A (p.Val209=)
c.879G>A (p.Val293=)
c.528G>A (p.Val176=)
 gnomAD v4
1g.155294728delCA2648269458PKLRc.719del (p.Val240GlyfsTer13)
c.626del (p.Val209GlyfsTer13)
c.878del (p.Val293GlyfsTer13)
c.527del (p.Val176GlyfsTer13)
 gnomAD v4
1g.155294728A>CCA342754721PKLRc.719T>G (p.Val240Gly)
c.626T>G (p.Val209Gly)
c.878T>G (p.Val293Gly)
c.527T>G (p.Val176Gly)
1g.155294728A>GCA342754720PKLRc.719T>C (p.Val240Ala)
c.626T>C (p.Val209Ala)
c.878T>C (p.Val293Ala)
c.527T>C (p.Val176Ala)
1g.155294728A>TCA342754718PKLRc.719T>A (p.Val240Glu)
c.626T>A (p.Val209Glu)
c.878T>A (p.Val293Glu)
c.527T>A (p.Val176Glu)
1g.155294729C>ACA342754723PKLRc.718G>T (p.Val240Leu)
c.625G>T (p.Val209Leu)
c.877G>T (p.Val293Leu)
c.526G>T (p.Val176Leu)
1g.155294729C>GCA342754724PKLRc.718G>C (p.Val240Leu)
c.625G>C (p.Val209Leu)
c.877G>C (p.Val293Leu)
c.526G>C (p.Val176Leu)
1g.155294729C>TCA342754726PKLRc.718G>A (p.Val240Met)
c.625G>A (p.Val209Met)
c.877G>A (p.Val293Met)
c.526G>A (p.Val176Met)
 gnomAD v4
1g.155294730T>ACA342754772PKLRc.717A>T (p.Gln239His)
c.624A>T (p.Gln208His)
c.876A>T (p.Gln292His)
c.525A>T (p.Gln175His)
1g.155294730T>CCA30903519PKLRc.717A>G (p.Gln239=)
c.624A>G (p.Gln208=)
c.876A>G (p.Gln292=)
c.525A>G (p.Gln175=)
 dbSNP
1g.155294730T>GCA342754773PKLRc.717A>C (p.Gln239His)
c.624A>C (p.Gln208His)
c.876A>C (p.Gln292His)
c.525A>C (p.Gln175His)
1g.155294730T=CA1200112279PKLRc.717A= (p.Gln239=)
c.624A= (p.Gln208=)
c.876A= (p.Gln292=)
c.525A= (p.Gln175=)
1g.155294731T>ACA342754776PKLRc.716A>T (p.Gln239Leu)
c.623A>T (p.Gln208Leu)
c.875A>T (p.Gln292Leu)
c.524A>T (p.Gln175Leu)
1g.155294731T>CCA342754777PKLRc.716A>G (p.Gln239Arg)
c.623A>G (p.Gln208Arg)
c.875A>G (p.Gln292Arg)
c.524A>G (p.Gln175Arg)
1g.155294731T>GCA342754779PKLRc.716A>C (p.Gln239Pro)
c.623A>C (p.Gln208Pro)
c.875A>C (p.Gln292Pro)
c.524A>C (p.Gln175Pro)
 ClinVar
1g.155294731T=CA1200112280PKLRc.716A= (p.Gln239=)
c.623A= (p.Gln208=)
c.875A= (p.Gln292=)
c.524A= (p.Gln175=)
1g.155294732G>ACA342754781PKLRc.715C>T (p.Gln239Ter)
c.622C>T (p.Gln208Ter)
c.874C>T (p.Gln292Ter)
c.523C>T (p.Gln175Ter)
 gnomAD v4
1g.155294732G>CCA342754783PKLRc.715C>G (p.Gln239Glu)
c.622C>G (p.Gln208Glu)
c.874C>G (p.Gln292Glu)
c.523C>G (p.Gln175Glu)
1g.155294732G>TCA342754785PKLRc.715C>A (p.Gln239Lys)
c.622C>A (p.Gln208Lys)
c.874C>A (p.Gln292Lys)
c.523C>A (p.Gln175Lys)
 gnomAD v4
1g.155294733_155294734dupCA526668871PKLRc.714_715dup (p.Gln239ProfsTer15)
c.621_622dup (p.Gln208ProfsTer15)
c.873_874dup (p.Gln292ProfsTer15)
c.522_523dup (p.Gln175ProfsTer15)
 dbSNP gnomAD v2 gnomAD v4
1g.155294733G>ACA421020445PKLRc.714C>T (p.Thr238=)
c.621C>T (p.Thr207=)
c.873C>T (p.Thr291=)
c.522C>T (p.Thr174=)
1g.155294733G>CCA421020446PKLRc.714C>G (p.Thr238=)
c.621C>G (p.Thr207=)
c.873C>G (p.Thr291=)
c.522C>G (p.Thr174=)
1g.155294733G>TCA421020447PKLRc.714C>A (p.Thr238=)
c.621C>A (p.Thr207=)
c.873C>A (p.Thr291=)
c.522C>A (p.Thr174=)
1g.155294734G>ACA342754787PKLRc.713C>T (p.Thr238Ile)
c.620C>T (p.Thr207Ile)
c.872C>T (p.Thr291Ile)
c.521C>T (p.Thr174Ile)
1g.155294734G>CCA342754789PKLRc.713C>G (p.Thr238Ser)
c.620C>G (p.Thr207Ser)
c.872C>G (p.Thr291Ser)
c.521C>G (p.Thr174Ser)
1g.155294734G>TCA342754802PKLRc.713C>A (p.Thr238Asn)
c.620C>A (p.Thr207Asn)
c.872C>A (p.Thr291Asn)
c.521C>A (p.Thr174Asn)
 gnomAD v4
1g.155294735T>ACA342754807PKLRc.712A>T (p.Thr238Ser)
c.619A>T (p.Thr207Ser)
c.871A>T (p.Thr291Ser)
c.520A>T (p.Thr174Ser)
1g.155294735T>CCA342754806PKLRc.712A>G (p.Thr238Ala)
c.619A>G (p.Thr207Ala)
c.871A>G (p.Thr291Ala)
c.520A>G (p.Thr174Ala)
1g.155294735T>GCA342754804PKLRc.712A>C (p.Thr238Pro)
c.619A>C (p.Thr207Pro)
c.871A>C (p.Thr291Pro)
c.520A>C (p.Thr174Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294735T=CA1200112281PKLRc.712A= (p.Thr238=)
c.619A= (p.Thr207=)
c.871A= (p.Thr291=)
c.520A= (p.Thr174=)
1g.155294736C>ACA421020448PKLRc.711G>T (p.Val237=)
c.618G>T (p.Val206=)
c.870G>T (p.Val290=)
c.519G>T (p.Val173=)
1g.155294736C>GCA421020449PKLRc.711G>C (p.Val237=)
c.618G>C (p.Val206=)
c.870G>C (p.Val290=)
c.519G>C (p.Val173=)
1g.155294736C>TCA421020450PKLRc.711G>A (p.Val237=)
c.618G>A (p.Val206=)
c.870G>A (p.Val290=)
c.519G>A (p.Val173=)
1g.155294737A>CCA342754811PKLRc.710T>G (p.Val237Gly)
c.617T>G (p.Val206Gly)
c.869T>G (p.Val290Gly)
c.518T>G (p.Val173Gly)
1g.155294737A>GCA342754812PKLRc.710T>C (p.Val237Ala)
c.617T>C (p.Val206Ala)
c.869T>C (p.Val290Ala)
c.518T>C (p.Val173Ala)
1g.155294737A>TCA342754814PKLRc.710T>A (p.Val237Glu)
c.617T>A (p.Val206Glu)
c.869T>A (p.Val290Glu)
c.518T>A (p.Val173Glu)
1g.155294738C>ACA342754816PKLRc.709G>T (p.Val237Leu)
c.616G>T (p.Val206Leu)
c.868G>T (p.Val290Leu)
c.517G>T (p.Val173Leu)
1g.155294738C=CA1200112282PKLRc.709G= (p.Val237=)
c.616G= (p.Val206=)
c.868G= (p.Val290=)
c.517G= (p.Val173=)
1g.155294738C>GCA342754818PKLRc.709G>C (p.Val237Leu)
c.616G>C (p.Val206Leu)
c.868G>C (p.Val290Leu)
c.517G>C (p.Val173Leu)
1g.155294738C>TCA342754820PKLRc.709G>A (p.Val237Met)
c.616G>A (p.Val206Met)
c.868G>A (p.Val290Met)
c.517G>A (p.Val173Met)
 dbSNP
1g.155294739C>ACA421020451PKLRc.708G>T (p.Leu236=)
c.615G>T (p.Leu205=)
c.867G>T (p.Leu289=)
c.516G>T (p.Leu172=)
1g.155294739C=CA1200112283PKLRc.708G= (p.Leu236=)
c.615G= (p.Leu205=)
c.867G= (p.Leu289=)
c.516G= (p.Leu172=)
1g.155294739C>GCA30903523PKLRc.708G>C (p.Leu236=)
c.615G>C (p.Leu205=)
c.867G>C (p.Leu289=)
c.516G>C (p.Leu172=)
 dbSNP gnomAD v4
1g.155294739C>TCA421020452PKLRc.708G>A (p.Leu236=)
c.615G>A (p.Leu205=)
c.867G>A (p.Leu289=)
c.516G>A (p.Leu172=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294740A=CA1200112284PKLRc.707T= (p.Leu236=)
c.614T= (p.Leu205=)
c.866T= (p.Leu289=)
c.515T= (p.Leu172=)
1g.155294740A>CCA342754826PKLRc.707T>G (p.Leu236Arg)
c.614T>G (p.Leu205Arg)
c.866T>G (p.Leu289Arg)
c.515T>G (p.Leu172Arg)
1g.155294740A>GCA30903524PKLRc.707T>C (p.Leu236Pro)
c.614T>C (p.Leu205Pro)
c.866T>C (p.Leu289Pro)
c.515T>C (p.Leu172Pro)
 dbSNP
1g.155294740A>TCA342754824PKLRc.707T>A (p.Leu236Gln)
c.614T>A (p.Leu205Gln)
c.866T>A (p.Leu289Gln)
c.515T>A (p.Leu172Gln)
1g.155294741G>ACA421020453PKLRc.706C>T (p.Leu236=)
c.613C>T (p.Leu205=)
c.865C>T (p.Leu289=)
c.514C>T (p.Leu172=)
1g.155294741G>CCA342754828PKLRc.706C>G (p.Leu236Val)
c.613C>G (p.Leu205Val)
c.865C>G (p.Leu289Val)
c.514C>G (p.Leu172Val)
1g.155294741G>TCA342754830PKLRc.706C>A (p.Leu236Met)
c.613C>A (p.Leu205Met)
c.865C>A (p.Leu289Met)
c.514C>A (p.Leu172Met)
1g.155294742T>ACA421020456PKLRc.705A>T (p.Gly235=)
c.612A>T (p.Gly204=)
c.864A>T (p.Gly288=)
c.513A>T (p.Gly171=)
 gnomAD v4
1g.155294742T>CCA421020455PKLRc.705A>G (p.Gly235=)
c.612A>G (p.Gly204=)
c.864A>G (p.Gly288=)
c.513A>G (p.Gly171=)
1g.155294742T>GCA421020454PKLRc.705A>C (p.Gly235=)
c.612A>C (p.Gly204=)
c.864A>C (p.Gly288=)
c.513A>C (p.Gly171=)
 gnomAD v4
1g.155294743C>ACA30903525PKLRc.704G>T (p.Gly235Val)
c.611G>T (p.Gly204Val)
c.863G>T (p.Gly288Val)
c.512G>T (p.Gly171Val)
 dbSNP gnomAD v4
1g.155294743C=CA1200112285PKLRc.704G= (p.Gly235=)
c.611G= (p.Gly204=)
c.863G= (p.Gly288=)
c.512G= (p.Gly171=)
1g.155294743C>GCA342754833PKLRc.704G>C (p.Gly235Ala)
c.611G>C (p.Gly204Ala)
c.863G>C (p.Gly288Ala)
c.512G>C (p.Gly171Ala)
1g.155294743C>TCA342754835PKLRc.704G>A (p.Gly235Glu)
c.611G>A (p.Gly204Glu)
c.863G>A (p.Gly288Glu)
c.512G>A (p.Gly171Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.155294744C>ACA342754841PKLRc.703G>T (p.Gly235Ter)
c.610G>T (p.Gly204Ter)
c.862G>T (p.Gly288Ter)
c.511G>T (p.Gly171Ter)
1g.155294744C>GCA342754838PKLRc.703G>C (p.Gly235Arg)
c.610G>C (p.Gly204Arg)
c.862G>C (p.Gly288Arg)
c.511G>C (p.Gly171Arg)
1g.155294744C>TCA342754839PKLRc.703G>A (p.Gly235Arg)
c.610G>A (p.Gly204Arg)
c.862G>A (p.Gly288Arg)
c.511G>A (p.Gly171Arg)
 gnomAD v4
1g.155294745C>ACA342754844PKLRc.702G>T (p.Glu234Asp)
c.609G>T (p.Glu203Asp)
c.861G>T (p.Glu287Asp)
c.510G>T (p.Glu170Asp)
1g.155294745C>GCA342754845PKLRc.702G>C (p.Glu234Asp)
c.609G>C (p.Glu203Asp)
c.861G>C (p.Glu287Asp)
c.510G>C (p.Glu170Asp)
 gnomAD v4
1g.155294745C>TCA421020457PKLRc.702G>A (p.Glu234=)
c.609G>A (p.Glu203=)
c.861G>A (p.Glu287=)
c.510G>A (p.Glu170=)
 gnomAD v4
1g.155294746T>ACA342754847PKLRc.701A>T (p.Glu234Val)
c.608A>T (p.Glu203Val)
c.860A>T (p.Glu287Val)
c.509A>T (p.Glu170Val)
1g.155294746T>CCA342754849PKLRc.701A>G (p.Glu234Gly)
c.608A>G (p.Glu203Gly)
c.860A>G (p.Glu287Gly)
c.509A>G (p.Glu170Gly)
 gnomAD v4
1g.155294746T>GCA342754851PKLRc.701A>C (p.Glu234Ala)
c.608A>C (p.Glu203Ala)
c.860A>C (p.Glu287Ala)
c.509A>C (p.Glu170Ala)
1g.155294747C>ACA342754853PKLRc.700G>T (p.Glu234Ter)
c.607G>T (p.Glu203Ter)
c.859G>T (p.Glu287Ter)
c.508G>T (p.Glu170Ter)
1g.155294747C>GCA342754855PKLRc.700G>C (p.Glu234Gln)
c.607G>C (p.Glu203Gln)
c.859G>C (p.Glu287Gln)
c.508G>C (p.Glu170Gln)
1g.155294747C>TCA342754857PKLRc.700G>A (p.Glu234Lys)
c.607G>A (p.Glu203Lys)
c.859G>A (p.Glu287Lys)
c.508G>A (p.Glu170Lys)
1g.155294748T>ACA421020458PKLRc.699A>T (p.Pro233=)
c.606A>T (p.Pro202=)
c.858A>T (p.Pro286=)
c.507A>T (p.Pro169=)
1g.155294748T>CCA1144230PKLRc.699A>G (p.Pro233=)
c.606A>G (p.Pro202=)
c.858A>G (p.Pro286=)
c.507A>G (p.Pro169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294748T>GCA421020459PKLRc.699A>C (p.Pro233=)
c.606A>C (p.Pro202=)
c.858A>C (p.Pro286=)
c.507A>C (p.Pro169=)
1g.155294748T=CA1200112286PKLRc.699A= (p.Pro233=)
c.606A= (p.Pro202=)
c.858A= (p.Pro286=)
c.507A= (p.Pro169=)
1g.155294749G>ACA342754861PKLRc.698C>T (p.Pro233Leu)
c.605C>T (p.Pro202Leu)
c.857C>T (p.Pro286Leu)
c.506C>T (p.Pro169Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.155294749G>CCA342754863PKLRc.698C>G (p.Pro233Arg)
c.605C>G (p.Pro202Arg)
c.857C>G (p.Pro286Arg)
c.506C>G (p.Pro169Arg)
1g.155294749G=CA1200112287PKLRc.698C= (p.Pro233=)
c.605C= (p.Pro202=)
c.857C= (p.Pro286=)
c.506C= (p.Pro169=)
1g.155294749G>TCA342754865PKLRc.698C>A (p.Pro233Gln)
c.605C>A (p.Pro202Gln)
c.857C>A (p.Pro286Gln)
c.506C>A (p.Pro169Gln)
1g.155294750G>ACA342754870PKLRc.697C>T (p.Pro233Ser)
c.604C>T (p.Pro202Ser)
c.856C>T (p.Pro286Ser)
c.505C>T (p.Pro169Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294750G>CCA342754867PKLRc.697C>G (p.Pro233Ala)
c.604C>G (p.Pro202Ala)
c.856C>G (p.Pro286Ala)
c.505C>G (p.Pro169Ala)
1g.155294750G=CA1200112288PKLRc.697C= (p.Pro233=)
c.604C= (p.Pro202=)
c.856C= (p.Pro286=)
c.505C= (p.Pro169=)
1g.155294750G>TCA342754868PKLRc.697C>A (p.Pro233Thr)
c.604C>A (p.Pro202Thr)
c.856C>A (p.Pro286Thr)
c.505C>A (p.Pro169Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.155294751G>ACA421020461PKLRc.696C>T (p.Gly232=)
c.603C>T (p.Gly201=)
c.855C>T (p.Gly285=)
c.504C>T (p.Gly168=)
 dbSNP
1g.155294751G>CCA421020462PKLRc.696C>G (p.Gly232=)
c.603C>G (p.Gly201=)
c.855C>G (p.Gly285=)
c.504C>G (p.Gly168=)
1g.155294751G=CA1200112289PKLRc.696C= (p.Gly232=)
c.603C= (p.Gly201=)
c.855C= (p.Gly285=)
c.504C= (p.Gly168=)
1g.155294751G>TCA421020463PKLRc.696C>A (p.Gly232=)
c.603C>A (p.Gly201=)
c.855C>A (p.Gly285=)
c.504C>A (p.Gly168=)
 gnomAD v4
1g.155294752C>ACA342754873PKLRc.695G>T (p.Gly232Val)
c.602G>T (p.Gly201Val)
c.854G>T (p.Gly285Val)
c.503G>T (p.Gly168Val)
1g.155294752C=CA1200112290PKLRc.695G= (p.Gly232=)
c.602G= (p.Gly201=)
c.854G= (p.Gly285=)
c.503G= (p.Gly168=)
1g.155294752C>GCA342754876PKLRc.695G>C (p.Gly232Ala)
c.602G>C (p.Gly201Ala)
c.854G>C (p.Gly285Ala)
c.503G>C (p.Gly168Ala)
1g.155294752C>TCA342754875PKLRc.695G>A (p.Gly232Asp)
c.602G>A (p.Gly201Asp)
c.854G>A (p.Gly285Asp)
c.503G>A (p.Gly168Asp)
 dbSNP gnomAD v2
1g.155294753C>ACA342754879PKLRc.695-1G>T (n.695-1G>T)
c.602-1G>T (n.602-1G>T)
c.854-1G>T (n.854-1G>T)
c.503-1G>T (n.503-1G>T)
1g.155294753C>GCA342754881PKLRc.695-1G>C (n.695-1G>C)
c.602-1G>C (n.602-1G>C)
c.854-1G>C (n.854-1G>C)
c.503-1G>C (n.503-1G>C)
 gnomAD v4
1g.155294753C>TCA342754882PKLRc.695-1G>A (n.695-1G>A)
c.602-1G>A (n.602-1G>A)
c.854-1G>A (n.854-1G>A)
c.503-1G>A (n.503-1G>A)
 ClinVar
1g.155294754T>ACA30903533PKLRc.695-2A>T (n.695-2A>T)
c.602-2A>T (n.602-2A>T)
c.854-2A>T (n.854-2A>T)
c.503-2A>T (n.503-2A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155294754T>CCA342754886PKLRc.695-2A>G (n.695-2A>G)
c.602-2A>G (n.602-2A>G)
c.854-2A>G (n.854-2A>G)
c.503-2A>G (n.503-2A>G)
1g.155294754T>GCA342754887PKLRc.695-2A>C (n.695-2A>C)
c.602-2A>C (n.602-2A>C)
c.854-2A>C (n.854-2A>C)
c.503-2A>C (n.503-2A>C)
1g.155294754T=CA1149107127PKLRc.695-2A= (n.695-2A=)
c.602-2A= (n.602-2A=)
c.854-2A= (n.854-2A=)
c.503-2A= (n.503-2A=)
1g.155294755G>CCA30903539PKLRc.695-3C>G (n.695-3C>G)
c.602-3C>G (n.602-3C>G)
c.854-3C>G (n.854-3C>G)
c.503-3C>G (n.503-3C>G)
 ClinVar dbSNP gnomAD v4
1g.155294755G=CA1200112291PKLRc.695-3C= (n.695-3C=)
c.602-3C= (n.602-3C=)
c.854-3C= (n.854-3C=)
c.503-3C= (n.503-3C=)
1g.155294756C>ACA1144231PKLRc.695-4G>T (n.695-4G>T)
c.602-4G>T (n.602-4G>T)
c.854-4G>T (n.854-4G>T)
c.503-4G>T (n.503-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294756C=CA1147760318PKLRc.695-4G= (n.695-4G=)
c.602-4G= (n.602-4G=)
c.854-4G= (n.854-4G=)
c.503-4G= (n.503-4G=)
1g.155294756C>TCA526668872PKLRc.695-4G>A (n.695-4G>A)
c.602-4G>A (n.602-4G>A)
c.854-4G>A (n.854-4G>A)
c.503-4G>A (n.503-4G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.155294757G>ACA2648269501PKLRc.695-5C>T (n.695-5C>T)
c.602-5C>T (n.602-5C>T)
c.854-5C>T (n.854-5C>T)
c.503-5C>T (n.503-5C>T)
 gnomAD v4
1g.155294757G>CCA2648269502PKLRc.695-5C>G (n.695-5C>G)
c.602-5C>G (n.602-5C>G)
c.854-5C>G (n.854-5C>G)
c.503-5C>G (n.503-5C>G)
 gnomAD v4
1g.155294757G=CA1200112292PKLRc.695-5C= (n.695-5C=)
c.602-5C= (n.602-5C=)
c.854-5C= (n.854-5C=)
c.503-5C= (n.503-5C=)
1g.155294757G>TCA526668873PKLRc.695-5C>A (n.695-5C>A)
c.602-5C>A (n.602-5C>A)
c.854-5C>A (n.854-5C>A)
c.503-5C>A (n.503-5C>A)
 dbSNP gnomAD v2
1g.155294758G>ACA2746213719PKLRc.695-6C>T (n.695-6C>T)
c.602-6C>T (n.602-6C>T)
c.854-6C>T (n.854-6C>T)
c.503-6C>T (n.503-6C>T)
1g.155294760C=CA1200112293PKLRc.695-8G= (n.695-8G=)
c.602-8G= (n.602-8G=)
c.854-8G= (n.854-8G=)
c.503-8G= (n.503-8G=)
1g.155294760C>GCA2648269505PKLRc.695-8G>C (n.695-8G>C)
c.602-8G>C (n.602-8G>C)
c.854-8G>C (n.854-8G>C)
c.503-8G>C (n.503-8G>C)
 gnomAD v4
1g.155294760C>TCA1144232PKLRc.695-8G>A (n.695-8G>A)
c.602-8G>A (n.602-8G>A)
c.854-8G>A (n.854-8G>A)
c.503-8G>A (n.503-8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294761A>GCA2573918401PKLRc.695-9T>C (n.695-9T>C)
c.602-9T>C (n.602-9T>C)
c.854-9T>C (n.854-9T>C)
c.503-9T>C (n.503-9T>C)
 gnomAD v4
1g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGACA1200112294PKLRc.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA)
c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA)
c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA)
c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA)
1g.155294766_155294793delCA1144233PKLRc.695-38_695-11del (n.695-38_695-11del)
c.602-38_602-11del (n.602-38_602-11del)
c.854-38_854-11del (n.854-38_854-11del)
c.503-38_503-11del (n.503-38_503-11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294764G>ACA2648269509PKLRc.695-12C>T (n.695-12C>T)
c.602-12C>T (n.602-12C>T)
c.854-12C>T (n.854-12C>T)
c.503-12C>T (n.503-12C>T)
 gnomAD v4
1g.155294764G>TCA2648269510PKLRc.695-12C>A (n.695-12C>A)
c.602-12C>A (n.602-12C>A)
c.854-12C>A (n.854-12C>A)
c.503-12C>A (n.503-12C>A)
 gnomAD v4
1g.155294764_155294765delinsGACA1200112295PKLRc.695-13_695-12delinsTC (n.695-13_695-12delinsTC)
c.602-13_602-12delinsTC (n.602-13_602-12delinsTC)
c.854-13_854-12delinsTC (n.854-13_854-12delinsTC)
c.503-13_503-12delinsTC (n.503-13_503-12delinsTC)
1g.155294765A=CA1200112296PKLRc.695-13T= (n.695-13T=)
c.602-13T= (n.602-13T=)
c.854-13T= (n.854-13T=)
c.503-13T= (n.503-13T=)
1g.155294765A>GCA30903558PKLRc.695-13T>C (n.695-13T>C)
c.602-13T>C (n.602-13T>C)
c.854-13T>C (n.854-13T>C)
c.503-13T>C (n.503-13T>C)
 dbSNP
1g.155294765A>TCA2648269516PKLRc.695-13T>A (n.695-13T>A)
c.602-13T>A (n.602-13T>A)
c.854-13T>A (n.854-13T>A)
c.503-13T>A (n.503-13T>A)
 gnomAD v4
1g.155294767delCA1144234PKLRc.695-13del (n.695-13del)
c.602-13del (n.602-13del)
c.854-13del (n.854-13del)
c.503-13del (n.503-13del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294767A>GCA2573568427PKLRc.695-15T>C (n.695-15T>C)
c.602-15T>C (n.602-15T>C)
c.854-15T>C (n.854-15T>C)
c.503-15T>C (n.503-15T>C)
1g.155294768G>ACA2573568428PKLRc.695-16C>T (n.695-16C>T)
c.602-16C>T (n.602-16C>T)
c.854-16C>T (n.854-16C>T)
c.503-16C>T (n.503-16C>T)
 gnomAD v4
1g.155294768_155294772delinsGAGCCCA1200112297PKLRc.695-20_695-16delinsGGCTC (n.695-20_695-16delinsGGCTC)
c.602-20_602-16delinsGGCTC (n.602-20_602-16delinsGGCTC)
c.854-20_854-16delinsGGCTC (n.854-20_854-16delinsGGCTC)
c.503-20_503-16delinsGGCTC (n.503-20_503-16delinsGGCTC)
1g.155294772_155294775delCA526668874PKLRc.695-20_695-17del (n.695-20_695-17del)
c.602-20_602-17del (n.602-20_602-17del)
c.854-20_854-17del (n.854-20_854-17del)
c.503-20_503-17del (n.503-20_503-17del)
 dbSNP gnomAD v2 gnomAD v4
1g.155294771C=CA1200112299PKLRc.695-19G= (n.695-19G=)
c.602-19G= (n.602-19G=)
c.854-19G= (n.854-19G=)
c.503-19G= (n.503-19G=)
1g.155294771C>TCA1200112298PKLRc.695-19G>A (n.695-19G>A)
c.602-19G>A (n.602-19G>A)
c.854-19G>A (n.854-19G>A)
c.503-19G>A (n.503-19G>A)
 dbSNP
1g.155294774G>ACA1144235PKLRc.695-22C>T (n.695-22C>T)
c.602-22C>T (n.602-22C>T)
c.854-22C>T (n.854-22C>T)
c.503-22C>T (n.503-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294774G>CCA2648269523PKLRc.695-22C>G (n.695-22C>G)
c.602-22C>G (n.602-22C>G)
c.854-22C>G (n.854-22C>G)
c.503-22C>G (n.503-22C>G)
 gnomAD v4
1g.155294774G=CA1200112300PKLRc.695-22C= (n.695-22C=)
c.602-22C= (n.602-22C=)
c.854-22C= (n.854-22C=)
c.503-22C= (n.503-22C=)
1g.155294774G>TCA2573918405PKLRc.695-22C>A (n.695-22C>A)
c.602-22C>A (n.602-22C>A)
c.854-22C>A (n.854-22C>A)
c.503-22C>A (n.503-22C>A)
1g.155294775C>ACA2648269524PKLRc.695-23G>T (n.695-23G>T)
c.602-23G>T (n.602-23G>T)
c.854-23G>T (n.854-23G>T)
c.503-23G>T (n.503-23G>T)
 gnomAD v4
1g.155294777G>ACA2573568429PKLRc.695-25C>T (n.695-25C>T)
c.602-25C>T (n.602-25C>T)
c.854-25C>T (n.854-25C>T)
c.503-25C>T (n.503-25C>T)
1g.155294778C>ACA1144236PKLRc.695-26G>T (n.695-26G>T)
c.602-26G>T (n.602-26G>T)
c.854-26G>T (n.854-26G>T)
c.503-26G>T (n.503-26G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294778C=CA1200112301PKLRc.695-26G= (n.695-26G=)
c.602-26G= (n.602-26G=)
c.854-26G= (n.854-26G=)
c.503-26G= (n.503-26G=)
1g.155294778C>TCA2648269525PKLRc.695-26G>A (n.695-26G>A)
c.602-26G>A (n.602-26G>A)
c.854-26G>A (n.854-26G>A)
c.503-26G>A (n.503-26G>A)
 gnomAD v4
1g.155294779G>CCA526668875PKLRc.695-27C>G (n.695-27C>G)
c.602-27C>G (n.602-27C>G)
c.854-27C>G (n.854-27C>G)
c.503-27C>G (n.503-27C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.155294779G=CA1200112302PKLRc.695-27C= (n.695-27C=)
c.602-27C= (n.602-27C=)
c.854-27C= (n.854-27C=)
c.503-27C= (n.503-27C=)
1g.155294780G>ACA526668876PKLRc.695-28C>T (n.695-28C>T)
c.602-28C>T (n.602-28C>T)
c.854-28C>T (n.854-28C>T)
c.503-28C>T (n.503-28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294780G>CCA2648269528PKLRc.695-28C>G (n.695-28C>G)
c.602-28C>G (n.602-28C>G)
c.854-28C>G (n.854-28C>G)
c.503-28C>G (n.503-28C>G)
 gnomAD v4
1g.155294780G=CA1200112303PKLRc.695-28C= (n.695-28C=)
c.602-28C= (n.602-28C=)
c.854-28C= (n.854-28C=)
c.503-28C= (n.503-28C=)
1g.155294782C>TCA2573918407PKLRc.695-30G>A (n.695-30G>A)
c.602-30G>A (n.602-30G>A)
c.854-30G>A (n.854-30G>A)
c.503-30G>A (n.503-30G>A)
 gnomAD v4
1g.155294782_155294783delinsCACA1200112304PKLRc.695-31_695-30delinsTG (n.695-31_695-30delinsTG)
c.602-31_602-30delinsTG (n.602-31_602-30delinsTG)
c.854-31_854-30delinsTG (n.854-31_854-30delinsTG)
c.503-31_503-30delinsTG (n.503-31_503-30delinsTG)
1g.155294783delCA526668877PKLRc.695-31del (n.695-31del)
c.602-31del (n.602-31del)
c.854-31del (n.854-31del)
c.503-31del (n.503-31del)
 dbSNP gnomAD v2 gnomAD v4
1g.155294783A>TCA2648269534PKLRc.695-31T>A (n.695-31T>A)
c.602-31T>A (n.602-31T>A)
c.854-31T>A (n.854-31T>A)
c.503-31T>A (n.503-31T>A)
 gnomAD v4
1g.155294783_155294784delinsAGCA1200112305PKLRc.695-32_695-31delinsCT (n.695-32_695-31delinsCT)
c.602-32_602-31delinsCT (n.602-32_602-31delinsCT)
c.854-32_854-31delinsCT (n.854-32_854-31delinsCT)
c.503-32_503-31delinsCT (n.503-32_503-31delinsCT)

Number of alleles fetched