Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.155294659C>ACA342754422PKLRc.788G>T (p.Gly263Val)
c.695G>T (p.Gly232Val)
c.947G>T (p.Gly316Val)
c.596G>T (p.Gly199Val)
1g.155294659C=CA1200112248PKLRc.788G= (p.Gly263=)
c.695G= (p.Gly232=)
c.947G= (p.Gly316=)
c.596G= (p.Gly199=)
1g.155294659C>GCA342754425PKLRc.788G>C (p.Gly263Ala)
c.695G>C (p.Gly232Ala)
c.947G>C (p.Gly316Ala)
c.596G>C (p.Gly199Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.155294659C>TCA30903386PKLRc.788G>A (p.Gly263Glu)
c.695G>A (p.Gly232Glu)
c.947G>A (p.Gly316Glu)
c.596G>A (p.Gly199Glu)
 dbSNP COSMIC
1g.155294660C>ACA342754428PKLRc.787G>T (p.Gly263Trp)
c.694G>T (p.Gly232Trp)
c.946G>T (p.Gly316Trp)
c.595G>T (p.Gly199Trp)
1g.155294660C=CA1200112249PKLRc.787G= (p.Gly263=)
c.694G= (p.Gly232=)
c.946G= (p.Gly316=)
c.595G= (p.Gly199=)
1g.155294660C>GCA342754430PKLRc.787G>C (p.Gly263Arg)
c.694G>C (p.Gly232Arg)
c.946G>C (p.Gly316Arg)
c.595G>C (p.Gly199Arg)
 gnomAD v4
1g.155294660C>TCA342754432PKLRc.787G>A (p.Gly263Arg)
c.694G>A (p.Gly232Arg)
c.946G>A (p.Gly316Arg)
c.595G>A (p.Gly199Arg)
 dbSNP gnomAD v4 COSMIC
1g.155294661G>ACA30903392PKLRc.786C>T (p.Pro262=)
c.693C>T (p.Pro231=)
c.945C>T (p.Pro315=)
c.594C>T (p.Pro198=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294661G>CCA421245718PKLRc.786C>G (p.Pro262=)
c.693C>G (p.Pro231=)
c.945C>G (p.Pro315=)
c.594C>G (p.Pro198=)
 COSMIC
1g.155294661G=CA1142233589PKLRc.786C= (p.Pro262=)
c.693C= (p.Pro231=)
c.945C= (p.Pro315=)
c.594C= (p.Pro198=)
1g.155294661G>TCA421245719PKLRc.786C>A (p.Pro262=)
c.693C>A (p.Pro231=)
c.945C>A (p.Pro315=)
c.594C>A (p.Pro198=)
1g.155294662G>ACA342754436PKLRc.785C>T (p.Pro262Leu)
c.692C>T (p.Pro231Leu)
c.944C>T (p.Pro315Leu)
c.593C>T (p.Pro198Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.155294662G>CCA342754438PKLRc.785C>G (p.Pro262Arg)
c.692C>G (p.Pro231Arg)
c.944C>G (p.Pro315Arg)
c.593C>G (p.Pro198Arg)
1g.155294662G=CA1200112250PKLRc.785C= (p.Pro262=)
c.692C= (p.Pro231=)
c.944C= (p.Pro315=)
c.593C= (p.Pro198=)
1g.155294662G>TCA342754439PKLRc.785C>A (p.Pro262His)
c.692C>A (p.Pro231His)
c.944C>A (p.Pro315His)
c.593C>A (p.Pro198His)
1g.155294663G>ACA342754442PKLRc.784C>T (p.Pro262Ser)
c.691C>T (p.Pro231Ser)
c.943C>T (p.Pro315Ser)
c.592C>T (p.Pro198Ser)
1g.155294663G>CCA342754443PKLRc.784C>G (p.Pro262Ala)
c.691C>G (p.Pro231Ala)
c.943C>G (p.Pro315Ala)
c.592C>G (p.Pro198Ala)
1g.155294663G>TCA342754445PKLRc.784C>A (p.Pro262Thr)
c.691C>A (p.Pro231Thr)
c.943C>A (p.Pro315Thr)
c.592C>A (p.Pro198Thr)
 gnomAD v4
1g.155294664C>ACA1144212PKLRc.783G>T (p.Leu261Phe)
c.690G>T (p.Leu230Phe)
c.942G>T (p.Leu314Phe)
c.591G>T (p.Leu197Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.155294664C=CA1200112251PKLRc.783G= (p.Leu261=)
c.690G= (p.Leu230=)
c.942G= (p.Leu314=)
c.591G= (p.Leu197=)
1g.155294664C>GCA342754448PKLRc.783G>C (p.Leu261Phe)
c.690G>C (p.Leu230Phe)
c.942G>C (p.Leu314Phe)
c.591G>C (p.Leu197Phe)
 gnomAD v4
1g.155294664C>TCA421245720PKLRc.783G>A (p.Leu261=)
c.690G>A (p.Leu230=)
c.942G>A (p.Leu314=)
c.591G>A (p.Leu197=)
 dbSNP gnomAD v3 gnomAD v4
1g.155294665A=CA1200112252PKLRc.782T= (p.Leu261=)
c.689T= (p.Leu230=)
c.941T= (p.Leu314=)
c.590T= (p.Leu197=)
1g.155294665A>CCA342754452PKLRc.782T>G (p.Leu261Trp)
c.689T>G (p.Leu230Trp)
c.941T>G (p.Leu314Trp)
c.590T>G (p.Leu197Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155294665A>GCA342754456PKLRc.782T>C (p.Leu261Ser)
c.689T>C (p.Leu230Ser)
c.941T>C (p.Leu314Ser)
c.590T>C (p.Leu197Ser)
1g.155294665A>TCA342754454PKLRc.782T>A (p.Leu261Ter)
c.689T>A (p.Leu230Ter)
c.941T>A (p.Leu314Ter)
c.590T>A (p.Leu197Ter)
1g.155294666A>CCA342754458PKLRc.781T>G (p.Leu261Val)
c.688T>G (p.Leu230Val)
c.940T>G (p.Leu314Val)
c.589T>G (p.Leu197Val)
1g.155294666A>GCA421245722PKLRc.781T>C (p.Leu261=)
c.688T>C (p.Leu230=)
c.940T>C (p.Leu314=)
c.589T>C (p.Leu197=)
1g.155294666A>TCA342754463PKLRc.781T>A (p.Leu261Met)
c.688T>A (p.Leu230Met)
c.940T>A (p.Leu314Met)
c.589T>A (p.Leu197Met)
1g.155294667G>ACA421245723PKLRc.780C>T (p.Asp260=)
c.687C>T (p.Asp229=)
c.939C>T (p.Asp313=)
c.588C>T (p.Asp196=)
 gnomAD v4
1g.155294667G>CCA342754465PKLRc.780C>G (p.Asp260Glu)
c.687C>G (p.Asp229Glu)
c.939C>G (p.Asp313Glu)
c.588C>G (p.Asp196Glu)
1g.155294667G=CA1200112253PKLRc.780C= (p.Asp260=)
c.687C= (p.Asp229=)
c.939C= (p.Asp313=)
c.588C= (p.Asp196=)
1g.155294667G>TCA1144213PKLRc.780C>A (p.Asp260Glu)
c.687C>A (p.Asp229Glu)
c.939C>A (p.Asp313Glu)
c.588C>A (p.Asp196Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294668T>ACA342754469PKLRc.779A>T (p.Asp260Val)
c.686A>T (p.Asp229Val)
c.938A>T (p.Asp313Val)
c.587A>T (p.Asp196Val)
1g.155294668T>CCA342754470PKLRc.779A>G (p.Asp260Gly)
c.686A>G (p.Asp229Gly)
c.938A>G (p.Asp313Gly)
c.587A>G (p.Asp196Gly)
1g.155294668T>GCA342754472PKLRc.779A>C (p.Asp260Ala)
c.686A>C (p.Asp229Ala)
c.938A>C (p.Asp313Ala)
c.587A>C (p.Asp196Ala)
1g.155294669C>ACA342754475PKLRc.778G>T (p.Asp260Tyr)
c.685G>T (p.Asp229Tyr)
c.937G>T (p.Asp313Tyr)
c.586G>T (p.Asp196Tyr)
1g.155294669C=CA1141751819PKLRc.778G= (p.Asp260=)
c.685G= (p.Asp229=)
c.937G= (p.Asp313=)
c.586G= (p.Asp196=)
1g.155294669C>GCA1144214PKLRc.778G>C (p.Asp260His)
c.685G>C (p.Asp229His)
c.937G>C (p.Asp313His)
c.586G>C (p.Asp196His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294669C>TCA1144215PKLRc.778G>A (p.Asp260Asn)
c.685G>A (p.Asp229Asn)
c.937G>A (p.Asp313Asn)
c.586G>A (p.Asp196Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155294670C>ACA421245727PKLRc.777G>T (p.Val259=)
c.684G>T (p.Val228=)
c.936G>T (p.Val312=)
c.585G>T (p.Val195=)
1g.155294670C>GCA421245728PKLRc.777G>C (p.Val259=)
c.684G>C (p.Val228=)
c.936G>C (p.Val312=)
c.585G>C (p.Val195=)
1g.155294670C>TCA421245729PKLRc.777G>A (p.Val259=)
c.684G>A (p.Val228=)
c.936G>A (p.Val312=)
c.585G>A (p.Val195=)
1g.155294671A>CCA342754479PKLRc.776T>G (p.Val259Gly)
c.683T>G (p.Val228Gly)
c.935T>G (p.Val312Gly)
c.584T>G (p.Val195Gly)
1g.155294671A>GCA342754481PKLRc.776T>C (p.Val259Ala)
c.683T>C (p.Val228Ala)
c.935T>C (p.Val312Ala)
c.584T>C (p.Val195Ala)
1g.155294671A>TCA342754482PKLRc.776T>A (p.Val259Glu)
c.683T>A (p.Val228Glu)
c.935T>A (p.Val312Glu)
c.584T>A (p.Val195Glu)
1g.155294672C>ACA342754484PKLRc.775G>T (p.Val259Leu)
c.682G>T (p.Val228Leu)
c.934G>T (p.Val312Leu)
c.583G>T (p.Val195Leu)
 dbSNP gnomAD v2
1g.155294672C=CA1200112254PKLRc.775G= (p.Val259=)
c.682G= (p.Val228=)
c.934G= (p.Val312=)
c.583G= (p.Val195=)
1g.155294672C>GCA342754487PKLRc.775G>C (p.Val259Leu)
c.682G>C (p.Val228Leu)
c.934G>C (p.Val312Leu)
c.583G>C (p.Val195Leu)
1g.155294672C>TCA30903403PKLRc.775G>A (p.Val259Met)
c.682G>A (p.Val228Met)
c.934G>A (p.Val312Met)
c.583G>A (p.Val195Met)
 dbSNP
1g.155294673C>ACA342754490PKLRc.774G>T (p.Gln258His)
c.681G>T (p.Gln227His)
c.933G>T (p.Gln311His)
c.582G>T (p.Gln194His)
1g.155294673C>GCA342754491PKLRc.774G>C (p.Gln258His)
c.681G>C (p.Gln227His)
c.933G>C (p.Gln311His)
c.582G>C (p.Gln194His)
1g.155294673C>TCA421245732PKLRc.774G>A (p.Gln258=)
c.681G>A (p.Gln227=)
c.933G>A (p.Gln311=)
c.582G>A (p.Gln194=)
 gnomAD v4
1g.155294674T>ACA342754495PKLRc.773A>T (p.Gln258Leu)
c.680A>T (p.Gln227Leu)
c.932A>T (p.Gln311Leu)
c.581A>T (p.Gln194Leu)
1g.155294674T>CCA342754496PKLRc.773A>G (p.Gln258Arg)
c.680A>G (p.Gln227Arg)
c.932A>G (p.Gln311Arg)
c.581A>G (p.Gln194Arg)
1g.155294674T>GCA342754498PKLRc.773A>C (p.Gln258Pro)
c.680A>C (p.Gln227Pro)
c.932A>C (p.Gln311Pro)
c.581A>C (p.Gln194Pro)
1g.155294675G>ACA342754501PKLRc.772C>T (p.Gln258Ter)
c.679C>T (p.Gln227Ter)
c.931C>T (p.Gln311Ter)
c.580C>T (p.Gln194Ter)
1g.155294675G>CCA342754502PKLRc.772C>G (p.Gln258Glu)
c.679C>G (p.Gln227Glu)
c.931C>G (p.Gln311Glu)
c.580C>G (p.Gln194Glu)
1g.155294675G>TCA342754503PKLRc.772C>A (p.Gln258Lys)
c.679C>A (p.Gln227Lys)
c.931C>A (p.Gln311Lys)
c.580C>A (p.Gln194Lys)
1g.155294676G>ACA421245734PKLRc.771C>T (p.Ala257=)
c.678C>T (p.Ala226=)
c.930C>T (p.Ala310=)
c.579C>T (p.Ala193=)
 gnomAD v4
1g.155294676G>CCA421245735PKLRc.771C>G (p.Ala257=)
c.678C>G (p.Ala226=)
c.930C>G (p.Ala310=)
c.579C>G (p.Ala193=)
1g.155294676G=CA1200112255PKLRc.771C= (p.Ala257=)
c.678C= (p.Ala226=)
c.930C= (p.Ala310=)
c.579C= (p.Ala193=)
1g.155294676G>TCA421245736PKLRc.771C>A (p.Ala257=)
c.678C>A (p.Ala226=)
c.930C>A (p.Ala310=)
c.579C>A (p.Ala193=)
 dbSNP gnomAD v2 gnomAD v4
1g.155294677G>ACA1144216PKLRc.770C>T (p.Ala257Val)
c.677C>T (p.Ala226Val)
c.929C>T (p.Ala310Val)
c.578C>T (p.Ala193Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294677G>CCA342754507PKLRc.770C>G (p.Ala257Gly)
c.677C>G (p.Ala226Gly)
c.929C>G (p.Ala310Gly)
c.578C>G (p.Ala193Gly)
1g.155294677G=CA1200112256PKLRc.770C= (p.Ala257=)
c.677C= (p.Ala226=)
c.929C= (p.Ala310=)
c.578C= (p.Ala193=)
1g.155294677G>TCA342754509PKLRc.770C>A (p.Ala257Asp)
c.677C>A (p.Ala226Asp)
c.929C>A (p.Ala310Asp)
c.578C>A (p.Ala193Asp)
1g.155294678C>ACA342754515PKLRc.769G>T (p.Ala257Ser)
c.676G>T (p.Ala226Ser)
c.928G>T (p.Ala310Ser)
c.577G>T (p.Ala193Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.155294678C=CA1200112257PKLRc.769G= (p.Ala257=)
c.676G= (p.Ala226=)
c.928G= (p.Ala310=)
c.577G= (p.Ala193=)
1g.155294678C>GCA342754513PKLRc.769G>C (p.Ala257Pro)
c.676G>C (p.Ala226Pro)
c.928G>C (p.Ala310Pro)
c.577G>C (p.Ala193Pro)
1g.155294678C>TCA1144217PKLRc.769G>A (p.Ala257Thr)
c.676G>A (p.Ala226Thr)
c.928G>A (p.Ala310Thr)
c.577G>A (p.Ala193Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155294679C>ACA421245745PKLRc.768G>T (p.Gly256=)
c.675G>T (p.Gly225=)
c.927G>T (p.Gly309=)
c.576G>T (p.Gly192=)
1g.155294679C>GCA421245743PKLRc.768G>C (p.Gly256=)
c.675G>C (p.Gly225=)
c.927G>C (p.Gly309=)
c.576G>C (p.Gly192=)
1g.155294679C>TCA421245744PKLRc.768G>A (p.Gly256=)
c.675G>A (p.Gly225=)
c.927G>A (p.Gly309=)
c.576G>A (p.Gly192=)
1g.155294680C>ACA342754520PKLRc.767G>T (p.Gly256Val)
c.674G>T (p.Gly225Val)
c.926G>T (p.Gly309Val)
c.575G>T (p.Gly192Val)
1g.155294680C=CA1200112258PKLRc.767G= (p.Gly256=)
c.674G= (p.Gly225=)
c.926G= (p.Gly309=)
c.575G= (p.Gly192=)
1g.155294680C>GCA342754517PKLRc.767G>C (p.Gly256Ala)
c.674G>C (p.Gly225Ala)
c.926G>C (p.Gly309Ala)
c.575G>C (p.Gly192Ala)
1g.155294680C>TCA342754519PKLRc.767G>A (p.Gly256Glu)
c.674G>A (p.Gly225Glu)
c.926G>A (p.Gly309Glu)
c.575G>A (p.Gly192Glu)
 ClinVar dbSNP gnomAD v4
1g.155294681C>ACA342754523PKLRc.766G>T (p.Gly256Trp)
c.673G>T (p.Gly225Trp)
c.925G>T (p.Gly309Trp)
c.574G>T (p.Gly192Trp)
1g.155294681C>GCA342754524PKLRc.766G>C (p.Gly256Arg)
c.673G>C (p.Gly225Arg)
c.925G>C (p.Gly309Arg)
c.574G>C (p.Gly192Arg)
1g.155294681C>TCA342754526PKLRc.766G>A (p.Gly256Arg)
c.673G>A (p.Gly225Arg)
c.925G>A (p.Gly309Arg)
c.574G>A (p.Gly192Arg)
1g.155294682T>ACA421245748PKLRc.765A>T (p.Pro255=)
c.672A>T (p.Pro224=)
c.924A>T (p.Pro308=)
c.573A>T (p.Pro191=)
1g.155294682T>CCA1144218PKLRc.765A>G (p.Pro255=)
c.672A>G (p.Pro224=)
c.924A>G (p.Pro308=)
c.573A>G (p.Pro191=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155294682T>GCA421245750PKLRc.765A>C (p.Pro255=)
c.672A>C (p.Pro224=)
c.924A>C (p.Pro308=)
c.573A>C (p.Pro191=)
1g.155294682T=CA1200112259PKLRc.765A= (p.Pro255=)
c.672A= (p.Pro224=)
c.924A= (p.Pro308=)
c.573A= (p.Pro191=)
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)
 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)

Number of alleles fetched