Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155295465G>ACA342755481PKLRc.479C>T (p.Pro160Leu)
c.287C>T (p.Pro96Leu)
c.386C>T (p.Pro129Leu)
c.384C>T (n.384C>T)
c.638C>T (p.Pro213Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.155295465G>CCA342755479PKLRc.479C>G (p.Pro160Arg)
c.287C>G (p.Pro96Arg)
c.386C>G (p.Pro129Arg)
c.384C>G (n.384C>G)
c.638C>G (p.Pro213Arg)
1g.155295465G=CA1200112631PKLRc.479C= (p.Pro160=)
c.287C= (p.Pro96=)
c.386C= (p.Pro129=)
c.384C= (n.384C=)
c.638C= (p.Pro213=)
1g.155295465G>TCA342755480PKLRc.479C>A (p.Pro160Gln)
c.287C>A (p.Pro96Gln)
c.386C>A (p.Pro129Gln)
c.384C>A (n.384C>A)
c.638C>A (p.Pro213Gln)
 COSMIC
1g.155295466G>ACA342755482PKLRc.478C>T (p.Pro160Ser)
c.286C>T (p.Pro96Ser)
c.385C>T (p.Pro129Ser)
c.383C>T (n.383C>T)
c.637C>T (p.Pro213Ser)
1g.155295466G>CCA342755483PKLRc.478C>G (p.Pro160Ala)
c.286C>G (p.Pro96Ala)
c.385C>G (p.Pro129Ala)
c.383C>G (n.383C>G)
c.637C>G (p.Pro213Ala)
1g.155295466G>TCA342755484PKLRc.478C>A (p.Pro160Thr)
c.286C>A (p.Pro96Thr)
c.385C>A (p.Pro129Thr)
c.383C>A (n.383C>A)
c.637C>A (p.Pro213Thr)
1g.155295467T>ACA421245816PKLRc.477A>T (p.Gly159=)
c.285A>T (p.Gly95=)
c.384A>T (p.Gly128=)
c.382A>T (n.382A>T)
c.636A>T (p.Gly212=)
1g.155295467T>CCA421245812PKLRc.477A>G (p.Gly159=)
c.285A>G (p.Gly95=)
c.384A>G (p.Gly128=)
c.382A>G (n.382A>G)
c.636A>G (p.Gly212=)
1g.155295467T>GCA421245815PKLRc.477A>C (p.Gly159=)
c.285A>C (p.Gly95=)
c.384A>C (p.Gly128=)
c.382A>C (n.382A>C)
c.636A>C (p.Gly212=)
1g.155295468C>ACA342755485PKLRc.476G>T (p.Gly159Val)
c.284G>T (p.Gly95Val)
c.383G>T (p.Gly128Val)
c.381G>T (n.381G>T)
c.635G>T (p.Gly212Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155295468C=CA1200112632PKLRc.476G= (p.Gly159=)
c.284G= (p.Gly95=)
c.383G= (p.Gly128=)
c.381G= (n.381G=)
c.635G= (p.Gly212=)
1g.155295468C>GCA342755486PKLRc.476G>C (p.Gly159Ala)
c.284G>C (p.Gly95Ala)
c.383G>C (p.Gly128Ala)
c.381G>C (n.381G>C)
c.635G>C (p.Gly212Ala)
1g.155295468C>TCA342755487PKLRc.476G>A (p.Gly159Glu)
c.284G>A (p.Gly95Glu)
c.383G>A (p.Gly128Glu)
c.381G>A (n.381G>A)
c.635G>A (p.Gly212Glu)
 gnomAD v4
1g.155295469C>ACA342755488PKLRc.475G>T (p.Gly159Ter)
c.283G>T (p.Gly95Ter)
c.382G>T (p.Gly128Ter)
c.380G>T (n.380G>T)
c.634G>T (p.Gly212Ter)
1g.155295469C>GCA342755489PKLRc.475G>C (p.Gly159Arg)
c.283G>C (p.Gly95Arg)
c.382G>C (p.Gly128Arg)
c.380G>C (n.380G>C)
c.634G>C (p.Gly212Arg)
1g.155295469C>TCA342755490PKLRc.475G>A (p.Gly159Arg)
c.283G>A (p.Gly95Arg)
c.382G>A (p.Gly128Arg)
c.380G>A (n.380G>A)
c.634G>A (p.Gly212Arg)
1g.155295470C>ACA342755492PKLRc.474G>T (p.Lys158Asn)
c.282G>T (p.Lys94Asn)
c.381G>T (p.Lys127Asn)
c.379G>T (n.379G>T)
c.633G>T (p.Lys211Asn)
1g.155295470C=CA1200112633PKLRc.474G= (p.Lys158=)
c.282G= (p.Lys94=)
c.381G= (p.Lys127=)
c.379G= (n.379G=)
c.633G= (p.Lys211=)
1g.155295470C>GCA342755494PKLRc.474G>C (p.Lys158Asn)
c.282G>C (p.Lys94Asn)
c.381G>C (p.Lys127Asn)
c.379G>C (n.379G>C)
c.633G>C (p.Lys211Asn)
1g.155295470C>TCA1144331PKLRc.474G>A (p.Lys158=)
c.282G>A (p.Lys94=)
c.381G>A (p.Lys127=)
c.379G>A (n.379G>A)
c.633G>A (p.Lys211=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155295471T>ACA342755498PKLRc.473A>T (p.Lys158Met)
c.281A>T (p.Lys94Met)
c.380A>T (p.Lys127Met)
c.378A>T (n.378A>T)
c.632A>T (p.Lys211Met)
1g.155295471T>CCA30904541PKLRc.473A>G (p.Lys158Arg)
c.281A>G (p.Lys94Arg)
c.380A>G (p.Lys127Arg)
c.378A>G (n.378A>G)
c.632A>G (p.Lys211Arg)
 dbSNP gnomAD v4
1g.155295471T>GCA342755499PKLRc.473A>C (p.Lys158Thr)
c.281A>C (p.Lys94Thr)
c.380A>C (p.Lys127Thr)
c.378A>C (n.378A>C)
c.632A>C (p.Lys211Thr)
1g.155295471T=CA1200112634PKLRc.473A= (p.Lys158=)
c.281A= (p.Lys94=)
c.380A= (p.Lys127=)
c.378A= (n.378A=)
c.632A= (p.Lys211=)
1g.155295471_155295472delCA913067767PKLRc.472_473del (p.Lys158GlyfsTer?)
c.280_281del (p.Lys94GlyfsTer?)
c.379_380del (p.Lys127GlyfsTer?)
c.377_378del (n.377_378del)
c.631_632del (p.Lys211GlyfsTer?)
1g.155295472T>ACA342755503PKLRc.472A>T (p.Lys158Ter)
c.280A>T (p.Lys94Ter)
c.379A>T (p.Lys127Ter)
c.377A>T (n.377A>T)
c.631A>T (p.Lys211Ter)
1g.155295472T>CCA342755505PKLRc.472A>G (p.Lys158Glu)
c.280A>G (p.Lys94Glu)
c.379A>G (p.Lys127Glu)
c.377A>G (n.377A>G)
c.631A>G (p.Lys211Glu)
1g.155295472T>GCA342755507PKLRc.472A>C (p.Lys158Gln)
c.280A>C (p.Lys94Gln)
c.379A>C (p.Lys127Gln)
c.377A>C (n.377A>C)
c.631A>C (p.Lys211Gln)
1g.155295473G>ACA421245835PKLRc.471C>T (p.Thr157=)
c.279C>T (p.Thr93=)
c.378C>T (p.Thr126=)
c.376C>T (n.376C>T)
c.630C>T (p.Thr210=)
1g.155295473G>CCA421245833PKLRc.471C>G (p.Thr157=)
c.279C>G (p.Thr93=)
c.378C>G (p.Thr126=)
c.376C>G (n.376C>G)
c.630C>G (p.Thr210=)
 dbSNP gnomAD v4
1g.155295473G=CA1200112635PKLRc.471C= (p.Thr157=)
c.279C= (p.Thr93=)
c.378C= (p.Thr126=)
c.376C= (n.376C=)
c.630C= (p.Thr210=)
1g.155295473G>TCA421245834PKLRc.471C>A (p.Thr157=)
c.279C>A (p.Thr93=)
c.378C>A (p.Thr126=)
c.376C>A (n.376C>A)
c.630C>A (p.Thr210=)
 gnomAD v4
1g.155295474G>ACA342755509PKLRc.470C>T (p.Thr157Ile)
c.278C>T (p.Thr93Ile)
c.377C>T (p.Thr126Ile)
c.375C>T (n.375C>T)
c.629C>T (p.Thr210Ile)
1g.155295474G>CCA342755511PKLRc.470C>G (p.Thr157Ser)
c.278C>G (p.Thr93Ser)
c.377C>G (p.Thr126Ser)
c.375C>G (n.375C>G)
c.629C>G (p.Thr210Ser)
1g.155295474G>TCA342755514PKLRc.470C>A (p.Thr157Asn)
c.278C>A (p.Thr93Asn)
c.377C>A (p.Thr126Asn)
c.375C>A (n.375C>A)
c.629C>A (p.Thr210Asn)
 gnomAD v4
1g.155295475T>ACA342755517PKLRc.469A>T (p.Thr157Ser)
c.277A>T (p.Thr93Ser)
c.376A>T (p.Thr126Ser)
c.374A>T (n.374A>T)
c.628A>T (p.Thr210Ser)
1g.155295475T>CCA30904543PKLRc.469A>G (p.Thr157Ala)
c.277A>G (p.Thr93Ala)
c.376A>G (p.Thr126Ala)
c.374A>G (n.374A>G)
c.628A>G (p.Thr210Ala)
 dbSNP
1g.155295475T>GCA1144332PKLRc.469A>C (p.Thr157Pro)
c.277A>C (p.Thr93Pro)
c.376A>C (p.Thr126Pro)
c.374A>C (n.374A>C)
c.628A>C (p.Thr210Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295475T=CA1200112636PKLRc.469A= (p.Thr157=)
c.277A= (p.Thr93=)
c.376A= (p.Thr126=)
c.374A= (n.374A=)
c.628A= (p.Thr210=)
1g.155295476G>ACA30904548PKLRc.468C>T (p.Asp156=)
c.276C>T (p.Asp92=)
c.375C>T (p.Asp125=)
c.373C>T (n.373C>T)
c.627C>T (p.Asp209=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155295476G>CCA342755521PKLRc.468C>G (p.Asp156Glu)
c.276C>G (p.Asp92Glu)
c.375C>G (p.Asp125Glu)
c.373C>G (n.373C>G)
c.627C>G (p.Asp209Glu)
1g.155295476G=CA1200112637PKLRc.468C= (p.Asp156=)
c.276C= (p.Asp92=)
c.375C= (p.Asp125=)
c.373C= (n.373C=)
c.627C= (p.Asp209=)
1g.155295476G>TCA342755522PKLRc.468C>A (p.Asp156Glu)
c.276C>A (p.Asp92Glu)
c.375C>A (p.Asp125Glu)
c.373C>A (n.373C>A)
c.627C>A (p.Asp209Glu)
1g.155295477T>ACA342755529PKLRc.467A>T (p.Asp156Val)
c.275A>T (p.Asp92Val)
c.374A>T (p.Asp125Val)
c.372A>T (n.372A>T)
c.626A>T (p.Asp209Val)
1g.155295477T>CCA342755527PKLRc.467A>G (p.Asp156Gly)
c.275A>G (p.Asp92Gly)
c.374A>G (p.Asp125Gly)
c.372A>G (n.372A>G)
c.626A>G (p.Asp209Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.155295477T>GCA342755525PKLRc.467A>C (p.Asp156Ala)
c.275A>C (p.Asp92Ala)
c.374A>C (p.Asp125Ala)
c.372A>C (n.372A>C)
c.626A>C (p.Asp209Ala)
1g.155295477T=CA1200112638PKLRc.467A= (p.Asp156=)
c.275A= (p.Asp92=)
c.374A= (p.Asp125=)
c.372A= (n.372A=)
c.626A= (p.Asp209=)
1g.155295478C>ACA342755532PKLRc.466G>T (p.Asp156Tyr)
c.274G>T (p.Asp92Tyr)
c.373G>T (p.Asp125Tyr)
c.371G>T (n.371G>T)
c.625G>T (p.Asp209Tyr)
 dbSNP
1g.155295478C=CA1200112639PKLRc.466G= (p.Asp156=)
c.274G= (p.Asp92=)
c.373G= (p.Asp125=)
c.371G= (n.371G=)
c.625G= (p.Asp209=)
1g.155295478C>GCA342755534PKLRc.466G>C (p.Asp156His)
c.274G>C (p.Asp92His)
c.373G>C (p.Asp125His)
c.371G>C (n.371G>C)
c.625G>C (p.Asp209His)
 dbSNP
1g.155295478C>TCA342755536PKLRc.466G>A (p.Asp156Asn)
c.274G>A (p.Asp92Asn)
c.373G>A (p.Asp125Asn)
c.371G>A (n.371G>A)
c.625G>A (p.Asp209Asn)
1g.155295478_155295479delCA2648264777PKLRc.465_466del (p.Asp156HisfsTer?)
c.273_274del (p.Asp92HisfsTer?)
c.372_373del (p.Asp125HisfsTer?)
c.370_371del (n.370_371del)
c.624_625del (p.Asp209HisfsTer?)
 gnomAD v4
1g.155295479C>ACA421245843PKLRc.465G>T (p.Leu155=)
c.273G>T (p.Leu91=)
c.372G>T (p.Leu124=)
c.370G>T (n.370G>T)
c.624G>T (p.Leu208=)
 gnomAD v4
1g.155295479C>GCA421245844PKLRc.465G>C (p.Leu155=)
c.273G>C (p.Leu91=)
c.372G>C (p.Leu124=)
c.370G>C (n.370G>C)
c.624G>C (p.Leu208=)
1g.155295479C>TCA421245845PKLRc.465G>A (p.Leu155=)
c.273G>A (p.Leu91=)
c.372G>A (p.Leu124=)
c.370G>A (n.370G>A)
c.624G>A (p.Leu208=)
1g.155295480A>CCA342755539PKLRc.464T>G (p.Leu155Arg)
c.272T>G (p.Leu91Arg)
c.371T>G (p.Leu124Arg)
c.369T>G (n.369T>G)
c.623T>G (p.Leu208Arg)
1g.155295480A>GCA342755540PKLRc.464T>C (p.Leu155Pro)
c.272T>C (p.Leu91Pro)
c.371T>C (p.Leu124Pro)
c.369T>C (n.369T>C)
c.623T>C (p.Leu208Pro)
 gnomAD v4
1g.155295480A>TCA342755542PKLRc.464T>A (p.Leu155Gln)
c.272T>A (p.Leu91Gln)
c.371T>A (p.Leu124Gln)
c.369T>A (n.369T>A)
c.623T>A (p.Leu208Gln)
1g.155295481G>ACA1144333PKLRc.463C>T (p.Leu155=)
c.271C>T (p.Leu91=)
c.370C>T (p.Leu124=)
c.368C>T (n.368C>T)
c.622C>T (p.Leu208=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295481G>CCA342755544PKLRc.463C>G (p.Leu155Val)
c.271C>G (p.Leu91Val)
c.370C>G (p.Leu124Val)
c.368C>G (n.368C>G)
c.622C>G (p.Leu208Val)
1g.155295481G=CA1200112640PKLRc.463C= (p.Leu155=)
c.271C= (p.Leu91=)
c.370C= (p.Leu124=)
c.368C= (n.368C=)
c.622C= (p.Leu208=)
1g.155295481G>TCA342755545PKLRc.463C>A (p.Leu155Met)
c.271C>A (p.Leu91Met)
c.370C>A (p.Leu124Met)
c.368C>A (n.368C>A)
c.622C>A (p.Leu208Met)
1g.155295482G>ACA421245851PKLRc.462C>T (p.Ala154=)
c.270C>T (p.Ala90=)
c.369C>T (p.Ala123=)
c.367C>T (n.367C>T)
c.621C>T (p.Ala207=)
1g.155295482G>CCA421245853PKLRc.462C>G (p.Ala154=)
c.270C>G (p.Ala90=)
c.369C>G (p.Ala123=)
c.367C>G (n.367C>G)
c.621C>G (p.Ala207=)
1g.155295482G>TCA421245855PKLRc.462C>A (p.Ala154=)
c.270C>A (p.Ala90=)
c.369C>A (p.Ala123=)
c.367C>A (n.367C>A)
c.621C>A (p.Ala207=)
1g.155295483G>ACA342755548PKLRc.461C>T (p.Ala154Val)
c.269C>T (p.Ala90Val)
c.368C>T (p.Ala123Val)
c.366C>T (n.366C>T)
c.620C>T (p.Ala207Val)
1g.155295483G>CCA342755549PKLRc.461C>G (p.Ala154Gly)
c.269C>G (p.Ala90Gly)
c.368C>G (p.Ala123Gly)
c.366C>G (n.366C>G)
c.620C>G (p.Ala207Gly)
1g.155295483G>TCA342755551PKLRc.461C>A (p.Ala154Asp)
c.269C>A (p.Ala90Asp)
c.368C>A (p.Ala123Asp)
c.366C>A (n.366C>A)
c.620C>A (p.Ala207Asp)
1g.155295484C>ACA342755558PKLRc.460G>T (p.Ala154Ser)
c.268G>T (p.Ala90Ser)
c.367G>T (p.Ala123Ser)
c.365G>T (n.365G>T)
c.619G>T (p.Ala207Ser)
 gnomAD v4
1g.155295484C=CA1200112641PKLRc.460G= (p.Ala154=)
c.268G= (p.Ala90=)
c.367G= (p.Ala123=)
c.365G= (n.365G=)
c.619G= (p.Ala207=)
1g.155295484C>GCA342755556PKLRc.460G>C (p.Ala154Pro)
c.268G>C (p.Ala90Pro)
c.367G>C (p.Ala123Pro)
c.365G>C (n.365G>C)
c.619G>C (p.Ala207Pro)
 dbSNP
1g.155295484C>TCA1144334PKLRc.460G>A (p.Ala154Thr)
c.268G>A (p.Ala90Thr)
c.367G>A (p.Ala123Thr)
c.365G>A (n.365G>A)
c.619G>A (p.Ala207Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295485G>ACA421245862PKLRc.459C>T (p.Ile153=)
c.267C>T (p.Ile89=)
c.366C>T (p.Ile122=)
c.364C>T (n.364C>T)
c.618C>T (p.Ile206=)
1g.155295485G>CCA342755560PKLRc.459C>G (p.Ile153Met)
c.267C>G (p.Ile89Met)
c.366C>G (p.Ile122Met)
c.364C>G (n.364C>G)
c.618C>G (p.Ile206Met)
1g.155295485G>TCA421245863PKLRc.459C>A (p.Ile153=)
c.267C>A (p.Ile89=)
c.366C>A (p.Ile122=)
c.364C>A (n.364C>A)
c.618C>A (p.Ile206=)
 gnomAD v4
1g.155295486A>CCA342755566PKLRc.458T>G (p.Ile153Ser)
c.266T>G (p.Ile89Ser)
c.365T>G (p.Ile122Ser)
c.363T>G (n.363T>G)
c.617T>G (p.Ile206Ser)
1g.155295486A>GCA342755562PKLRc.458T>C (p.Ile153Thr)
c.266T>C (p.Ile89Thr)
c.365T>C (p.Ile122Thr)
c.363T>C (n.363T>C)
c.617T>C (p.Ile206Thr)
1g.155295486A>TCA342755565PKLRc.458T>A (p.Ile153Asn)
c.266T>A (p.Ile89Asn)
c.365T>A (p.Ile122Asn)
c.363T>A (n.363T>A)
c.617T>A (p.Ile206Asn)
1g.155295487T>ACA342755569PKLRc.457A>T (p.Ile153Phe)
c.265A>T (p.Ile89Phe)
c.364A>T (p.Ile122Phe)
c.362A>T (n.362A>T)
c.616A>T (p.Ile206Phe)
1g.155295487T>CCA342755571PKLRc.457A>G (p.Ile153Val)
c.265A>G (p.Ile89Val)
c.364A>G (p.Ile122Val)
c.362A>G (n.362A>G)
c.616A>G (p.Ile206Val)
 dbSNP gnomAD v2 gnomAD v4
1g.155295487T>GCA342755572PKLRc.457A>C (p.Ile153Leu)
c.265A>C (p.Ile89Leu)
c.364A>C (p.Ile122Leu)
c.362A>C (n.362A>C)
c.616A>C (p.Ile206Leu)
1g.155295487T=CA1200112642PKLRc.457A= (p.Ile153=)
c.265A= (p.Ile89=)
c.364A= (p.Ile122=)
c.362A= (n.362A=)
c.616A= (p.Ile206=)
1g.155295488G>ACA421245870PKLRc.456C>T (p.Ala152=)
c.264C>T (p.Ala88=)
c.363C>T (p.Ala121=)
c.361C>T (n.361C>T)
c.615C>T (p.Ala205=)
1g.155295488G>CCA421245872PKLRc.456C>G (p.Ala152=)
c.264C>G (p.Ala88=)
c.363C>G (p.Ala121=)
c.361C>G (n.361C>G)
c.615C>G (p.Ala205=)
1g.155295488G>TCA421245874PKLRc.456C>A (p.Ala152=)
c.264C>A (p.Ala88=)
c.363C>A (p.Ala121=)
c.361C>A (n.361C>A)
c.615C>A (p.Ala205=)
1g.155295489G>ACA342755577PKLRc.455C>T (p.Ala152Val)
c.263C>T (p.Ala88Val)
c.362C>T (p.Ala121Val)
c.360C>T (n.360C>T)
c.614C>T (p.Ala205Val)
1g.155295489G>CCA1144335PKLRc.455C>G (p.Ala152Gly)
c.263C>G (p.Ala88Gly)
c.362C>G (p.Ala121Gly)
c.360C>G (n.360C>G)
c.614C>G (p.Ala205Gly)
 dbSNP ExAC gnomAD v2
1g.155295489G=CA1200112643PKLRc.455C= (p.Ala152=)
c.263C= (p.Ala88=)
c.362C= (p.Ala121=)
c.360C= (n.360C=)
c.614C= (p.Ala205=)
1g.155295489G>TCA342755575PKLRc.455C>A (p.Ala152Asp)
c.263C>A (p.Ala88Asp)
c.362C>A (p.Ala121Asp)
c.360C>A (n.360C>A)
c.614C>A (p.Ala205Asp)
1g.155295490C>ACA342755579PKLRc.454G>T (p.Ala152Ser)
c.262G>T (p.Ala88Ser)
c.361G>T (p.Ala121Ser)
c.359G>T (n.359G>T)
c.613G>T (p.Ala205Ser)
1g.155295490C>GCA342755581PKLRc.454G>C (p.Ala152Pro)
c.262G>C (p.Ala88Pro)
c.361G>C (p.Ala121Pro)
c.359G>C (n.359G>C)
c.613G>C (p.Ala205Pro)
1g.155295490C>TCA342755582PKLRc.454G>A (p.Ala152Thr)
c.262G>A (p.Ala88Thr)
c.361G>A (p.Ala121Thr)
c.359G>A (n.359G>A)
c.613G>A (p.Ala205Thr)
1g.155295491C>ACA421245764PKLRc.453G>T (p.Val151=)
c.261G>T (p.Val87=)
c.360G>T (p.Val120=)
c.358G>T (n.358G>T)
c.612G>T (p.Val204=)
 COSMIC
1g.155295491C=CA1200112644PKLRc.453G= (p.Val151=)
c.261G= (p.Val87=)
c.360G= (p.Val120=)
c.358G= (n.358G=)
c.612G= (p.Val204=)
1g.155295491C>GCA421245766PKLRc.453G>C (p.Val151=)
c.261G>C (p.Val87=)
c.360G>C (p.Val120=)
c.358G>C (n.358G>C)
c.612G>C (p.Val204=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155295491C>TCA421245768PKLRc.453G>A (p.Val151=)
c.261G>A (p.Val87=)
c.360G>A (p.Val120=)
c.358G>A (n.358G>A)
c.612G>A (p.Val204=)
1g.155295492A>CCA342755585PKLRc.452T>G (p.Val151Gly)
c.260T>G (p.Val87Gly)
c.359T>G (p.Val120Gly)
c.357T>G (n.357T>G)
c.611T>G (p.Val204Gly)
1g.155295492A>GCA342755586PKLRc.452T>C (p.Val151Ala)
c.260T>C (p.Val87Ala)
c.359T>C (p.Val120Ala)
c.357T>C (n.357T>C)
c.611T>C (p.Val204Ala)
1g.155295492A>TCA342755588PKLRc.452T>A (p.Val151Glu)
c.260T>A (p.Val87Glu)
c.359T>A (p.Val120Glu)
c.357T>A (n.357T>A)
c.611T>A (p.Val204Glu)
1g.155295493C>ACA342755591PKLRc.451G>T (p.Val151Leu)
c.259G>T (p.Val87Leu)
c.358G>T (p.Val120Leu)
c.356G>T (n.356G>T)
c.610G>T (p.Val204Leu)
 dbSNP gnomAD v2
1g.155295493C=CA1200112645PKLRc.451G= (p.Val151=)
c.259G= (p.Val87=)
c.358G= (p.Val120=)
c.356G= (n.356G=)
c.610G= (p.Val204=)
1g.155295493C>GCA342755594PKLRc.451G>C (p.Val151Leu)
c.259G>C (p.Val87Leu)
c.358G>C (p.Val120Leu)
c.356G>C (n.356G>C)
c.610G>C (p.Val204Leu)
1g.155295493C>TCA342755592PKLRc.451G>A (p.Val151Met)
c.259G>A (p.Val87Met)
c.358G>A (p.Val120Met)
c.356G>A (n.356G>A)
c.610G>A (p.Val204Met)
 ClinVar dbSNP gnomAD v2
1g.155295494G>ACA421245773PKLRc.450C>T (p.Pro150=)
c.258C>T (p.Pro86=)
c.357C>T (p.Pro119=)
c.355C>T (n.355C>T)
c.609C>T (p.Pro203=)
 COSMIC
1g.155295494G>CCA421245775PKLRc.450C>G (p.Pro150=)
c.258C>G (p.Pro86=)
c.357C>G (p.Pro119=)
c.355C>G (n.355C>G)
c.609C>G (p.Pro203=)
 dbSNP gnomAD v2 gnomAD v4
1g.155295494G=CA1200112646PKLRc.450C= (p.Pro150=)
c.258C= (p.Pro86=)
c.357C= (p.Pro119=)
c.355C= (n.355C=)
c.609C= (p.Pro203=)
1g.155295494G>TCA421245774PKLRc.450C>A (p.Pro150=)
c.258C>A (p.Pro86=)
c.357C>A (p.Pro119=)
c.355C>A (n.355C>A)
c.609C>A (p.Pro203=)
 dbSNP gnomAD v2 gnomAD v4
1g.155295495G>ACA342755595PKLRc.449C>T (p.Pro150Leu)
c.257C>T (p.Pro86Leu)
c.356C>T (p.Pro119Leu)
c.354C>T (n.354C>T)
c.608C>T (p.Pro203Leu)
 gnomAD v4
1g.155295495G>CCA342755596PKLRc.449C>G (p.Pro150Arg)
c.257C>G (p.Pro86Arg)
c.356C>G (p.Pro119Arg)
c.354C>G (n.354C>G)
c.608C>G (p.Pro203Arg)
1g.155295495G>TCA342755597PKLRc.449C>A (p.Pro150His)
c.257C>A (p.Pro86His)
c.356C>A (p.Pro119His)
c.354C>A (n.354C>A)
c.608C>A (p.Pro203His)
1g.155295496G>ACA342755598PKLRc.448C>T (p.Pro150Ser)
c.256C>T (p.Pro86Ser)
c.355C>T (p.Pro119Ser)
c.353C>T (n.353C>T)
c.607C>T (p.Pro203Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.155295496G>CCA342755599PKLRc.448C>G (p.Pro150Ala)
c.256C>G (p.Pro86Ala)
c.355C>G (p.Pro119Ala)
c.353C>G (n.353C>G)
c.607C>G (p.Pro203Ala)
1g.155295496G=CA1200112647PKLRc.448C= (p.Pro150=)
c.256C= (p.Pro86=)
c.355C= (p.Pro119=)
c.353C= (n.353C=)
c.607C= (p.Pro203=)
1g.155295496G>TCA342755600PKLRc.448C>A (p.Pro150Thr)
c.256C>A (p.Pro86Thr)
c.355C>A (p.Pro119Thr)
c.353C>A (n.353C>A)
c.607C>A (p.Pro203Thr)
1g.155295497C>ACA421245780PKLRc.447G>T (p.Arg149=)
c.255G>T (p.Arg85=)
c.354G>T (p.Arg118=)
c.352G>T (n.352G>T)
c.606G>T (p.Arg202=)
1g.155295497C=CA1200112648PKLRc.447G= (p.Arg149=)
c.255G= (p.Arg85=)
c.354G= (p.Arg118=)
c.352G= (n.352G=)
c.606G= (p.Arg202=)
1g.155295497C>GCA421245781PKLRc.447G>C (p.Arg149=)
c.255G>C (p.Arg85=)
c.354G>C (p.Arg118=)
c.352G>C (n.352G>C)
c.606G>C (p.Arg202=)
1g.155295497C>TCA421245783PKLRc.447G>A (p.Arg149=)
c.255G>A (p.Arg85=)
c.354G>A (p.Arg118=)
c.352G>A (n.352G>A)
c.606G>A (p.Arg202=)
 dbSNP gnomAD v2
1g.155295498C>ACA342755601PKLRc.446G>T (p.Arg149Leu)
c.254G>T (p.Arg85Leu)
c.353G>T (p.Arg118Leu)
c.351G>T (n.351G>T)
c.605G>T (p.Arg202Leu)
 gnomAD v4
1g.155295498C=CA1200112649PKLRc.446G= (p.Arg149=)
c.254G= (p.Arg85=)
c.353G= (p.Arg118=)
c.351G= (n.351G=)
c.605G= (p.Arg202=)
1g.155295498C>GCA342755603PKLRc.446G>C (p.Arg149Pro)
c.254G>C (p.Arg85Pro)
c.353G>C (p.Arg118Pro)
c.351G>C (n.351G>C)
c.605G>C (p.Arg202Pro)
 gnomAD v4
1g.155295498C>TCA30904573PKLRc.446G>A (p.Arg149Gln)
c.254G>A (p.Arg85Gln)
c.353G>A (p.Arg118Gln)
c.351G>A (n.351G>A)
c.605G>A (p.Arg202Gln)
 dbSNP
1g.155295499G>ACA342755608PKLRc.445C>T (p.Arg149Trp)
c.253C>T (p.Arg85Trp)
c.352C>T (p.Arg118Trp)
c.350C>T (n.350C>T)
c.604C>T (p.Arg202Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.155295499G>CCA342755609PKLRc.445C>G (p.Arg149Gly)
c.253C>G (p.Arg85Gly)
c.352C>G (p.Arg118Gly)
c.350C>G (n.350C>G)
c.604C>G (p.Arg202Gly)
1g.155295499G=CA1200112650PKLRc.445C= (p.Arg149=)
c.253C= (p.Arg85=)
c.352C= (p.Arg118=)
c.350C= (n.350C=)
c.604C= (p.Arg202=)
1g.155295499G>TCA421245787PKLRc.445C>A (p.Arg149=)
c.253C>A (p.Arg85=)
c.352C>A (p.Arg118=)
c.350C>A (n.350C>A)
c.604C>A (p.Arg202=)
 gnomAD v4
1g.155295500delCA2648264843PKLRc.445del (p.Arg149GlyfsTer30)
c.253del (p.Arg85GlyfsTer30)
c.352del (p.Arg118GlyfsTer30)
c.350del (n.350del)
c.604del (p.Arg202GlyfsTer30)
 gnomAD v4
1g.155295500G>ACA421245789PKLRc.444C>T (p.Tyr148=)
c.252C>T (p.Tyr84=)
c.351C>T (p.Tyr117=)
c.349C>T (n.349C>T)
c.603C>T (p.Tyr201=)
 dbSNP gnomAD v4
1g.155295500G>CCA342755611PKLRc.444C>G (p.Tyr148Ter)
c.252C>G (p.Tyr84Ter)
c.351C>G (p.Tyr117Ter)
c.349C>G (n.349C>G)
c.603C>G (p.Tyr201Ter)
1g.155295500G=CA1200112651PKLRc.444C= (p.Tyr148=)
c.252C= (p.Tyr84=)
c.351C= (p.Tyr117=)
c.349C= (n.349C=)
c.603C= (p.Tyr201=)
1g.155295500G>TCA342755613PKLRc.444C>A (p.Tyr148Ter)
c.252C>A (p.Tyr84Ter)
c.351C>A (p.Tyr117Ter)
c.349C>A (n.349C>A)
c.603C>A (p.Tyr201Ter)
1g.155295501T>ACA342755615PKLRc.443A>T (p.Tyr148Phe)
c.251A>T (p.Tyr84Phe)
c.350A>T (p.Tyr117Phe)
c.348A>T (n.348A>T)
c.602A>T (p.Tyr201Phe)
1g.155295501T>CCA342755617PKLRc.443A>G (p.Tyr148Cys)
c.251A>G (p.Tyr84Cys)
c.350A>G (p.Tyr117Cys)
c.348A>G (n.348A>G)
c.602A>G (p.Tyr201Cys)
1g.155295501T>GCA342755619PKLRc.443A>C (p.Tyr148Ser)
c.251A>C (p.Tyr84Ser)
c.350A>C (p.Tyr117Ser)
c.348A>C (n.348A>C)
c.602A>C (p.Tyr201Ser)
1g.155295502A>CCA342755621PKLRc.442T>G (p.Tyr148Asp)
c.250T>G (p.Tyr84Asp)
c.349T>G (p.Tyr117Asp)
c.347T>G (n.347T>G)
c.601T>G (p.Tyr201Asp)
1g.155295502A>GCA342755623PKLRc.442T>C (p.Tyr148His)
c.250T>C (p.Tyr84His)
c.349T>C (p.Tyr117His)
c.347T>C (n.347T>C)
c.601T>C (p.Tyr201His)
1g.155295502A>TCA342755629PKLRc.442T>A (p.Tyr148Asn)
c.250T>A (p.Tyr84Asn)
c.349T>A (p.Tyr117Asn)
c.347T>A (n.347T>A)
c.601T>A (p.Tyr201Asn)
1g.155295503G>ACA421245794PKLRc.441C>T (p.Ser147=)
c.249C>T (p.Ser83=)
c.348C>T (p.Ser116=)
c.346C>T (n.346C>T)
c.600C>T (p.Ser200=)
1g.155295503G>CCA342755633PKLRc.441C>G (p.Ser147Arg)
c.249C>G (p.Ser83Arg)
c.348C>G (p.Ser116Arg)
c.346C>G (n.346C>G)
c.600C>G (p.Ser200Arg)
1g.155295503G>TCA342755631PKLRc.441C>A (p.Ser147Arg)
c.249C>A (p.Ser83Arg)
c.348C>A (p.Ser116Arg)
c.346C>A (n.346C>A)
c.600C>A (p.Ser200Arg)
1g.155295504C>ACA342755636PKLRc.440G>T (p.Ser147Ile)
c.248G>T (p.Ser83Ile)
c.347G>T (p.Ser116Ile)
c.345G>T (n.345G>T)
c.599G>T (p.Ser200Ile)
1g.155295504C=CA1200112652PKLRc.440G= (p.Ser147=)
c.248G= (p.Ser83=)
c.347G= (p.Ser116=)
c.345G= (n.345G=)
c.599G= (p.Ser200=)
1g.155295504C>GCA342755638PKLRc.440G>C (p.Ser147Thr)
c.248G>C (p.Ser83Thr)
c.347G>C (p.Ser116Thr)
c.345G>C (n.345G>C)
c.599G>C (p.Ser200Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.155295504C>TCA342755640PKLRc.440G>A (p.Ser147Asn)
c.248G>A (p.Ser83Asn)
c.347G>A (p.Ser116Asn)
c.345G>A (n.345G>A)
c.599G>A (p.Ser200Asn)
1g.155295505delCA2586967549PKLRc.439del (p.Ser147AlafsTer?)
c.247del (p.Ser83AlafsTer?)
c.346del (p.Ser116AlafsTer?)
c.344del (n.344del)
c.598del (p.Ser200AlafsTer?)
1g.155295505T>ACA342755643PKLRc.439A>T (p.Ser147Cys)
c.247A>T (p.Ser83Cys)
c.346A>T (p.Ser116Cys)
c.344A>T (n.344A>T)
c.598A>T (p.Ser200Cys)
 dbSNP gnomAD v2
1g.155295505T>CCA342755645PKLRc.439A>G (p.Ser147Gly)
c.247A>G (p.Ser83Gly)
c.346A>G (p.Ser116Gly)
c.344A>G (n.344A>G)
c.598A>G (p.Ser200Gly)
 gnomAD v4
1g.155295505T>GCA342755646PKLRc.439A>C (p.Ser147Arg)
c.247A>C (p.Ser83Arg)
c.346A>C (p.Ser116Arg)
c.344A>C (n.344A>C)
c.598A>C (p.Ser200Arg)
1g.155295505T=CA1200112653PKLRc.439A= (p.Ser147=)
c.247A= (p.Ser83=)
c.346A= (p.Ser116=)
c.344A= (n.344A=)
c.598A= (p.Ser200=)
1g.155295506G>ACA421245800PKLRc.438C>T (p.Leu146=)
c.246C>T (p.Leu82=)
c.345C>T (p.Leu115=)
c.343C>T (n.343C>T)
c.597C>T (p.Leu199=)
 gnomAD v4
1g.155295506G>CCA421245804PKLRc.438C>G (p.Leu146=)
c.246C>G (p.Leu82=)
c.345C>G (p.Leu115=)
c.343C>G (n.343C>G)
c.597C>G (p.Leu199=)
1g.155295506G>TCA421245802PKLRc.438C>A (p.Leu146=)
c.246C>A (p.Leu82=)
c.345C>A (p.Leu115=)
c.343C>A (n.343C>A)
c.597C>A (p.Leu199=)
1g.155295507A>CCA342755649PKLRc.437T>G (p.Leu146Arg)
c.245T>G (p.Leu82Arg)
c.344T>G (p.Leu115Arg)
c.342T>G (n.342T>G)
c.596T>G (p.Leu199Arg)
1g.155295507A>GCA342755653PKLRc.437T>C (p.Leu146Pro)
c.245T>C (p.Leu82Pro)
c.344T>C (p.Leu115Pro)
c.342T>C (n.342T>C)
c.596T>C (p.Leu199Pro)
1g.155295507A>TCA342755651PKLRc.437T>A (p.Leu146His)
c.245T>A (p.Leu82His)
c.344T>A (p.Leu115His)
c.342T>A (n.342T>A)
c.596T>A (p.Leu199His)
1g.155295508G>ACA342755656PKLRc.436C>T (p.Leu146Phe)
c.244C>T (p.Leu82Phe)
c.343C>T (p.Leu115Phe)
c.341C>T (n.341C>T)
c.595C>T (p.Leu199Phe)
1g.155295508G>CCA342755658PKLRc.436C>G (p.Leu146Val)
c.244C>G (p.Leu82Val)
c.343C>G (p.Leu115Val)
c.341C>G (n.341C>G)
c.595C>G (p.Leu199Val)
 gnomAD v4
1g.155295508G>TCA342755660PKLRc.436C>A (p.Leu146Ile)
c.244C>A (p.Leu82Ile)
c.343C>A (p.Leu115Ile)
c.341C>A (n.341C>A)
c.595C>A (p.Leu199Ile)
1g.155295509T>ACA421245809PKLRc.435A>T (p.Pro145=)
c.243A>T (p.Pro81=)
c.342A>T (p.Pro114=)
c.340A>T (n.340A>T)
c.594A>T (p.Pro198=)
1g.155295509T>CCA421245811PKLRc.435A>G (p.Pro145=)
c.243A>G (p.Pro81=)
c.342A>G (p.Pro114=)
c.340A>G (n.340A>G)
c.594A>G (p.Pro198=)
 gnomAD v4
1g.155295509T>GCA421245814PKLRc.435A>C (p.Pro145=)
c.243A>C (p.Pro81=)
c.342A>C (p.Pro114=)
c.340A>C (n.340A>C)
c.594A>C (p.Pro198=)
1g.155295509T=CA1200112654PKLRc.435A= (p.Pro145=)
c.243A= (p.Pro81=)
c.342A= (p.Pro114=)
c.340A= (n.340A=)
c.594A= (p.Pro198=)
1g.155295510G>ACA342755663PKLRc.434C>T (p.Pro145Leu)
c.242C>T (p.Pro81Leu)
c.341C>T (p.Pro114Leu)
c.339C>T (n.339C>T)
c.593C>T (p.Pro198Leu)
 dbSNP gnomAD v4
1g.155295510G>CCA342755665PKLRc.434C>G (p.Pro145Arg)
c.242C>G (p.Pro81Arg)
c.341C>G (p.Pro114Arg)
c.339C>G (n.339C>G)
c.593C>G (p.Pro198Arg)
1g.155295510G=CA1200112655PKLRc.434C= (p.Pro145=)
c.242C= (p.Pro81=)
c.341C= (p.Pro114=)
c.339C= (n.339C=)
c.593C= (p.Pro198=)
1g.155295510G>TCA342755667PKLRc.434C>A (p.Pro145Gln)
c.242C>A (p.Pro81Gln)
c.341C>A (p.Pro114Gln)
c.339C>A (n.339C>A)
c.593C>A (p.Pro198Gln)
 gnomAD v4
1g.155295513dupCA526668645PKLRc.434dup (p.Leu146ThrfsTer?)
c.242dup (p.Leu82ThrfsTer?)
c.341dup (p.Leu115ThrfsTer?)
c.339dup (n.339dup)
c.593dup (p.Leu199ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155295513delCA2586967550PKLRc.434del (p.Pro145HisfsTer?)
c.242del (p.Pro81HisfsTer?)
c.341del (p.Pro114HisfsTer?)
c.339del (n.339del)
c.593del (p.Pro198HisfsTer?)
1g.155295511G>ACA342755669PKLRc.433C>T (p.Pro145Ser)
c.241C>T (p.Pro81Ser)
c.340C>T (p.Pro114Ser)
c.338C>T (n.338C>T)
c.592C>T (p.Pro198Ser)
 gnomAD v4
1g.155295511G>CCA342755671PKLRc.433C>G (p.Pro145Ala)
c.241C>G (p.Pro81Ala)
c.340C>G (p.Pro114Ala)
c.338C>G (n.338C>G)
c.592C>G (p.Pro198Ala)
1g.155295511G>TCA342755673PKLRc.433C>A (p.Pro145Thr)
c.241C>A (p.Pro81Thr)
c.340C>A (p.Pro114Thr)
c.338C>A (n.338C>A)
c.592C>A (p.Pro198Thr)
1g.155295512G>ACA1144336PKLRc.432C>T (p.Ser144=)
c.240C>T (p.Ser80=)
c.339C>T (p.Ser113=)
c.337C>T (n.337C>T)
c.591C>T (p.Ser197=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295512G>CCA421245820PKLRc.432C>G (p.Ser144=)
c.240C>G (p.Ser80=)
c.339C>G (p.Ser113=)
c.337C>G (n.337C>G)
c.591C>G (p.Ser197=)
1g.155295512G=CA1200112656PKLRc.432C= (p.Ser144=)
c.240C= (p.Ser80=)
c.339C= (p.Ser113=)
c.337C= (n.337C=)
c.591C= (p.Ser197=)
1g.155295512G>TCA421245822PKLRc.432C>A (p.Ser144=)
c.240C>A (p.Ser80=)
c.339C>A (p.Ser113=)
c.337C>A (n.337C>A)
c.591C>A (p.Ser197=)
 dbSNP gnomAD v4
1g.155295513G>ACA342755680PKLRc.431C>T (p.Ser144Phe)
c.239C>T (p.Ser80Phe)
c.338C>T (p.Ser113Phe)
c.336C>T (n.336C>T)
c.590C>T (p.Ser197Phe)
1g.155295513G>CCA342755678PKLRc.431C>G (p.Ser144Cys)
c.239C>G (p.Ser80Cys)
c.338C>G (p.Ser113Cys)
c.336C>G (n.336C>G)
c.590C>G (p.Ser197Cys)
 dbSNP
1g.155295513G=CA1200112657PKLRc.431C= (p.Ser144=)
c.239C= (p.Ser80=)
c.338C= (p.Ser113=)
c.336C= (n.336C=)
c.590C= (p.Ser197=)
1g.155295513G>TCA342755676PKLRc.431C>A (p.Ser144Tyr)
c.239C>A (p.Ser80Tyr)
c.338C>A (p.Ser113Tyr)
c.336C>A (n.336C>A)
c.590C>A (p.Ser197Tyr)
1g.155295514A>CCA342755682PKLRc.430T>G (p.Ser144Ala)
c.238T>G (p.Ser80Ala)
c.337T>G (p.Ser113Ala)
c.335T>G (n.335T>G)
c.589T>G (p.Ser197Ala)
1g.155295514A>GCA342755686PKLRc.430T>C (p.Ser144Pro)
c.238T>C (p.Ser80Pro)
c.337T>C (p.Ser113Pro)
c.335T>C (n.335T>C)
c.589T>C (p.Ser197Pro)
1g.155295514A>TCA342755684PKLRc.430T>A (p.Ser144Thr)
c.238T>A (p.Ser80Thr)
c.337T>A (p.Ser113Thr)
c.335T>A (n.335T>A)
c.589T>A (p.Ser197Thr)
1g.155295515A>CCA421245827PKLRc.429T>G (p.Gly143=)
c.237T>G (p.Gly79=)
c.336T>G (p.Gly112=)
c.334T>G (n.334T>G)
c.588T>G (p.Gly196=)
1g.155295515A>GCA421245825PKLRc.429T>C (p.Gly143=)
c.237T>C (p.Gly79=)
c.336T>C (p.Gly112=)
c.334T>C (n.334T>C)
c.588T>C (p.Gly196=)
1g.155295515A>TCA421245823PKLRc.429T>A (p.Gly143=)
c.237T>A (p.Gly79=)
c.336T>A (p.Gly112=)
c.334T>A (n.334T>A)
c.588T>A (p.Gly196=)
1g.155295516C>ACA342755690PKLRc.428G>T (p.Gly143Val)
c.236G>T (p.Gly79Val)
c.335G>T (p.Gly112Val)
c.333G>T (n.333G>T)
c.587G>T (p.Gly196Val)
1g.155295516C>GCA342755693PKLRc.428G>C (p.Gly143Ala)
c.236G>C (p.Gly79Ala)
c.335G>C (p.Gly112Ala)
c.333G>C (n.333G>C)
c.587G>C (p.Gly196Ala)
1g.155295516C>TCA342755692PKLRc.428G>A (p.Gly143Asp)
c.236G>A (p.Gly79Asp)
c.335G>A (p.Gly112Asp)
c.333G>A (n.333G>A)
c.587G>A (p.Gly196Asp)
1g.155295517C>ACA342755697PKLRc.427G>T (p.Gly143Cys)
c.235G>T (p.Gly79Cys)
c.334G>T (p.Gly112Cys)
c.332G>T (n.332G>T)
c.586G>T (p.Gly196Cys)
1g.155295517C>GCA342755701PKLRc.427G>C (p.Gly143Arg)
c.235G>C (p.Gly79Arg)
c.334G>C (p.Gly112Arg)
c.332G>C (n.332G>C)
c.586G>C (p.Gly196Arg)
 dbSNP
1g.155295517C>TCA342755698PKLRc.427G>A (p.Gly143Ser)
c.235G>A (p.Gly79Ser)
c.334G>A (p.Gly112Ser)
c.332G>A (n.332G>A)
c.586G>A (p.Gly196Ser)
1g.155295518T>ACA421245830PKLRc.426A>T (p.Ala142=)
c.234A>T (p.Ala78=)
c.333A>T (p.Ala111=)
c.331A>T (n.331A>T)
c.585A>T (p.Ala195=)
1g.155295518T>CCA421245831PKLRc.426A>G (p.Ala142=)
c.234A>G (p.Ala78=)
c.333A>G (p.Ala111=)
c.331A>G (n.331A>G)
c.585A>G (p.Ala195=)
1g.155295518T>GCA421245832PKLRc.426A>C (p.Ala142=)
c.234A>C (p.Ala78=)
c.333A>C (p.Ala111=)
c.331A>C (n.331A>C)
c.585A>C (p.Ala195=)
1g.155295519G>ACA342755704PKLRc.425C>T (p.Ala142Val)
c.233C>T (p.Ala78Val)
c.332C>T (p.Ala111Val)
c.330C>T (n.330C>T)
c.584C>T (p.Ala195Val)
1g.155295519G>CCA342755706PKLRc.425C>G (p.Ala142Gly)
c.233C>G (p.Ala78Gly)
c.332C>G (p.Ala111Gly)
c.330C>G (n.330C>G)
c.584C>G (p.Ala195Gly)
1g.155295519G>TCA342755707PKLRc.425C>A (p.Ala142Glu)
c.233C>A (p.Ala78Glu)
c.332C>A (p.Ala111Glu)
c.330C>A (n.330C>A)
c.584C>A (p.Ala195Glu)
1g.155295520delCA2573919411PKLRc.424del (p.Ala142GlnfsTer?)
c.232del (p.Ala78GlnfsTer?)
c.331del (p.Ala111GlnfsTer?)
c.329del (n.329del)
c.583del (p.Ala195GlnfsTer?)
1g.155295520C>ACA342755710PKLRc.424G>T (p.Ala142Ser)
c.232G>T (p.Ala78Ser)
c.331G>T (p.Ala111Ser)
c.329G>T (n.329G>T)
c.583G>T (p.Ala195Ser)
1g.155295520C=CA1200112658PKLRc.424G= (p.Ala142=)
c.232G= (p.Ala78=)
c.331G= (p.Ala111=)
c.329G= (n.329G=)
c.583G= (p.Ala195=)
1g.155295520C>GCA342755711PKLRc.424G>C (p.Ala142Pro)
c.232G>C (p.Ala78Pro)
c.331G>C (p.Ala111Pro)
c.329G>C (n.329G>C)
c.583G>C (p.Ala195Pro)
 dbSNP
1g.155295520C>TCA342755712PKLRc.424G>A (p.Ala142Thr)
c.232G>A (p.Ala78Thr)
c.331G>A (p.Ala111Thr)
c.329G>A (n.329G>A)
c.583G>A (p.Ala195Thr)
 gnomAD v4
1g.155295521A>CCA342755715PKLRc.423T>G (p.Phe141Leu)
c.231T>G (p.Phe77Leu)
c.330T>G (p.Phe110Leu)
c.328T>G (n.328T>G)
c.582T>G (p.Phe194Leu)
1g.155295521A>GCA421245838PKLRc.423T>C (p.Phe141=)
c.231T>C (p.Phe77=)
c.330T>C (p.Phe110=)
c.328T>C (n.328T>C)
c.582T>C (p.Phe194=)
 ClinVar
1g.155295521A>TCA342755717PKLRc.423T>A (p.Phe141Leu)
c.231T>A (p.Phe77Leu)
c.330T>A (p.Phe110Leu)
c.328T>A (n.328T>A)
c.582T>A (p.Phe194Leu)
1g.155295522A=CA1200112659PKLRc.422T= (p.Phe141=)
c.230T= (p.Phe77=)
c.329T= (p.Phe110=)
c.327T= (n.327T=)
c.581T= (p.Phe194=)
1g.155295522A>CCA342755719PKLRc.422T>G (p.Phe141Cys)
c.230T>G (p.Phe77Cys)
c.329T>G (p.Phe110Cys)
c.327T>G (n.327T>G)
c.581T>G (p.Phe194Cys)
1g.155295522A>GCA342755721PKLRc.422T>C (p.Phe141Ser)
c.230T>C (p.Phe77Ser)
c.329T>C (p.Phe110Ser)
c.327T>C (n.327T>C)
c.581T>C (p.Phe194Ser)
 ClinVar dbSNP gnomAD v4
1g.155295522A>TCA342755723PKLRc.422T>A (p.Phe141Tyr)
c.230T>A (p.Phe77Tyr)
c.329T>A (p.Phe110Tyr)
c.327T>A (n.327T>A)
c.581T>A (p.Phe194Tyr)
1g.155295523A=CA1200112660PKLRc.421T= (p.Phe141=)
c.229T= (p.Phe77=)
c.328T= (p.Phe110=)
c.326T= (n.326T=)
c.580T= (p.Phe194=)
1g.155295523A>CCA342755730PKLRc.421T>G (p.Phe141Val)
c.229T>G (p.Phe77Val)
c.328T>G (p.Phe110Val)
c.326T>G (n.326T>G)
c.580T>G (p.Phe194Val)
1g.155295523A>GCA342755726PKLRc.421T>C (p.Phe141Leu)
c.229T>C (p.Phe77Leu)
c.328T>C (p.Phe110Leu)
c.326T>C (n.326T>C)
c.580T>C (p.Phe194Leu)
 dbSNP
1g.155295523A>TCA342755728PKLRc.421T>A (p.Phe141Ile)
c.229T>A (p.Phe77Ile)
c.328T>A (p.Phe110Ile)
c.326T>A (n.326T>A)
c.580T>A (p.Phe194Ile)
1g.155295524G>ACA421245839PKLRc.420C>T (p.Ser140=)
c.228C>T (p.Ser76=)
c.327C>T (p.Ser109=)
c.325C>T (n.325C>T)
c.579C>T (p.Ser193=)
1g.155295524G>CCA342755732PKLRc.420C>G (p.Ser140Arg)
c.228C>G (p.Ser76Arg)
c.327C>G (p.Ser109Arg)
c.325C>G (n.325C>G)
c.579C>G (p.Ser193Arg)
1g.155295524G=CA1200112661PKLRc.420C= (p.Ser140=)
c.228C= (p.Ser76=)
c.327C= (p.Ser109=)
c.325C= (n.325C=)
c.579C= (p.Ser193=)
1g.155295524G>TCA1144337PKLRc.420C>A (p.Ser140Arg)
c.228C>A (p.Ser76Arg)
c.327C>A (p.Ser109Arg)
c.325C>A (n.325C>A)
c.579C>A (p.Ser193Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155295525C>ACA342755736PKLRc.419G>T (p.Ser140Ile)
c.227G>T (p.Ser76Ile)
c.326G>T (p.Ser109Ile)
c.324G>T (n.324G>T)
c.578G>T (p.Ser193Ile)
1g.155295525C>GCA342755738PKLRc.419G>C (p.Ser140Thr)
c.227G>C (p.Ser76Thr)
c.326G>C (p.Ser109Thr)
c.324G>C (n.324G>C)
c.578G>C (p.Ser193Thr)
1g.155295525C>TCA342755740PKLRc.419G>A (p.Ser140Asn)
c.227G>A (p.Ser76Asn)
c.326G>A (p.Ser109Asn)
c.324G>A (n.324G>A)
c.578G>A (p.Ser193Asn)
1g.155295526T>ACA342755742PKLRc.418A>T (p.Ser140Cys)
c.226A>T (p.Ser76Cys)
c.325A>T (p.Ser109Cys)
c.323A>T (n.323A>T)
c.577A>T (p.Ser193Cys)
1g.155295526T>CCA342755744PKLRc.418A>G (p.Ser140Gly)
c.226A>G (p.Ser76Gly)
c.325A>G (p.Ser109Gly)
c.323A>G (n.323A>G)
c.577A>G (p.Ser193Gly)
1g.155295526T>GCA342755746PKLRc.418A>C (p.Ser140Arg)
c.226A>C (p.Ser76Arg)
c.325A>C (p.Ser109Arg)
c.323A>C (n.323A>C)
c.577A>C (p.Ser193Arg)
1g.155295527C>ACA342755748PKLRc.417G>T (p.Glu139Asp)
c.225G>T (p.Glu75Asp)
c.324G>T (p.Glu108Asp)
c.322G>T (n.322G>T)
c.576G>T (p.Glu192Asp)
1g.155295527C=CA1200112662PKLRc.417G= (p.Glu139=)
c.225G= (p.Glu75=)
c.324G= (p.Glu108=)
c.322G= (n.322G=)
c.576G= (p.Glu192=)
1g.155295527C>GCA342755751PKLRc.417G>C (p.Glu139Asp)
c.225G>C (p.Glu75Asp)
c.324G>C (p.Glu108Asp)
c.322G>C (n.322G>C)
c.576G>C (p.Glu192Asp)
1g.155295527C>TCA421245842PKLRc.417G>A (p.Glu139=)
c.225G>A (p.Glu75=)
c.324G>A (p.Glu108=)
c.322G>A (n.322G>A)
c.576G>A (p.Glu192=)
 dbSNP
1g.155295528T>ACA30904586PKLRc.416A>T (p.Glu139Val)
c.224A>T (p.Glu75Val)
c.323A>T (p.Glu108Val)
c.321A>T (n.321A>T)
c.575A>T (p.Glu192Val)
 dbSNP
1g.155295528T>CCA342755756PKLRc.416A>G (p.Glu139Gly)
c.224A>G (p.Glu75Gly)
c.323A>G (p.Glu108Gly)
c.321A>G (n.321A>G)
c.575A>G (p.Glu192Gly)
1g.155295528T>GCA342755754PKLRc.416A>C (p.Glu139Ala)
c.224A>C (p.Glu75Ala)
c.323A>C (p.Glu108Ala)
c.321A>C (n.321A>C)
c.575A>C (p.Glu192Ala)
1g.155295528T=CA1200112663PKLRc.416A= (p.Glu139=)
c.224A= (p.Glu75=)
c.323A= (p.Glu108=)
c.321A= (n.321A=)
c.575A= (p.Glu192=)
1g.155295529C>ACA342755760PKLRc.415G>T (p.Glu139Ter)
c.223G>T (p.Glu75Ter)
c.322G>T (p.Glu108Ter)
c.320G>T (n.320G>T)
c.574G>T (p.Glu192Ter)
1g.155295529C=CA1148893041PKLRc.415G= (p.Glu139=)
c.223G= (p.Glu75=)
c.322G= (p.Glu108=)
c.320G= (n.320G=)
c.574G= (p.Glu192=)
1g.155295529C>GCA342755762PKLRc.415G>C (p.Glu139Gln)
c.223G>C (p.Glu75Gln)
c.322G>C (p.Glu108Gln)
c.320G>C (n.320G>C)
c.574G>C (p.Glu192Gln)
1g.155295529C>TCA1144338PKLRc.415G>A (p.Glu139Lys)
c.223G>A (p.Glu75Lys)
c.322G>A (p.Glu108Lys)
c.320G>A (n.320G>A)
c.574G>A (p.Glu192Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295530C>ACA421245847PKLRc.414G>T (p.Val138=)
c.222G>T (p.Val74=)
c.321G>T (p.Val107=)
c.319G>T (n.319G>T)
c.573G>T (p.Val191=)
1g.155295530C>GCA421245848PKLRc.414G>C (p.Val138=)
c.222G>C (p.Val74=)
c.321G>C (p.Val107=)
c.319G>C (n.319G>C)
c.573G>C (p.Val191=)
1g.155295530C>TCA421245849PKLRc.414G>A (p.Val138=)
c.222G>A (p.Val74=)
c.321G>A (p.Val107=)
c.319G>A (n.319G>A)
c.573G>A (p.Val191=)
1g.155295531A>CCA342755766PKLRc.413T>G (p.Val138Gly)
c.221T>G (p.Val74Gly)
c.320T>G (p.Val107Gly)
c.318T>G (n.318T>G)
c.572T>G (p.Val191Gly)
1g.155295531A>GCA342755768PKLRc.413T>C (p.Val138Ala)
c.221T>C (p.Val74Ala)
c.320T>C (p.Val107Ala)
c.318T>C (n.318T>C)
c.572T>C (p.Val191Ala)
1g.155295531A>TCA342755770PKLRc.413T>A (p.Val138Glu)
c.221T>A (p.Val74Glu)
c.320T>A (p.Val107Glu)
c.318T>A (n.318T>A)
c.572T>A (p.Val191Glu)
1g.155295532C>ACA342755773PKLRc.412G>T (p.Val138Leu)
c.220G>T (p.Val74Leu)
c.319G>T (p.Val107Leu)
c.317G>T (n.317G>T)
c.571G>T (p.Val191Leu)
 dbSNP gnomAD v4
1g.155295532C=CA1200112664PKLRc.412G= (p.Val138=)
c.220G= (p.Val74=)
c.319G= (p.Val107=)
c.317G= (n.317G=)
c.571G= (p.Val191=)
1g.155295532C>GCA342755774PKLRc.412G>C (p.Val138Leu)
c.220G>C (p.Val74Leu)
c.319G>C (p.Val107Leu)
c.317G>C (n.317G>C)
c.571G>C (p.Val191Leu)
1g.155295532C>TCA342755776PKLRc.412G>A (p.Val138Met)
c.220G>A (p.Val74Met)
c.319G>A (p.Val107Met)
c.317G>A (n.317G>A)
c.571G>A (p.Val191Met)
1g.155295533C>ACA421245852PKLRc.411G>T (p.Ala137=)
c.219G>T (p.Ala73=)
c.318G>T (p.Ala106=)
c.316G>T (n.316G>T)
c.570G>T (p.Ala190=)
 gnomAD v4
1g.155295533C=CA1200112665PKLRc.411G= (p.Ala137=)
c.219G= (p.Ala73=)
c.318G= (p.Ala106=)
c.316G= (n.316G=)
c.570G= (p.Ala190=)
1g.155295533C>GCA421245854PKLRc.411G>C (p.Ala137=)
c.219G>C (p.Ala73=)
c.318G>C (p.Ala106=)
c.316G>C (n.316G>C)
c.570G>C (p.Ala190=)
1g.155295533C>TCA421245856PKLRc.411G>A (p.Ala137=)
c.219G>A (p.Ala73=)
c.318G>A (p.Ala106=)
c.316G>A (n.316G>A)
c.570G>A (p.Ala190=)
 dbSNP gnomAD v2 gnomAD v4
1g.155295534G>ACA342755779PKLRc.410C>T (p.Ala137Val)
c.218C>T (p.Ala73Val)
c.317C>T (p.Ala106Val)
c.315C>T (n.315C>T)
c.569C>T (p.Ala190Val)
 dbSNP gnomAD v2 gnomAD v4
1g.155295534G>CCA342755780PKLRc.410C>G (p.Ala137Gly)
c.218C>G (p.Ala73Gly)
c.317C>G (p.Ala106Gly)
c.315C>G (n.315C>G)
c.569C>G (p.Ala190Gly)
1g.155295534G=CA1200112666PKLRc.410C= (p.Ala137=)
c.218C= (p.Ala73=)
c.317C= (p.Ala106=)
c.315C= (n.315C=)
c.569C= (p.Ala190=)
1g.155295534G>TCA342755782PKLRc.410C>A (p.Ala137Glu)
c.218C>A (p.Ala73Glu)
c.317C>A (p.Ala106Glu)
c.315C>A (n.315C>A)
c.569C>A (p.Ala190Glu)
1g.155295535C>ACA342755789PKLRc.409G>T (p.Ala137Ser)
c.217G>T (p.Ala73Ser)
c.316G>T (p.Ala106Ser)
c.314G>T (n.314G>T)
c.568G>T (p.Ala190Ser)
1g.155295535C=CA1200112667PKLRc.409G= (p.Ala137=)
c.217G= (p.Ala73=)
c.316G= (p.Ala106=)
c.314G= (n.314G=)
c.568G= (p.Ala190=)
1g.155295535C>GCA342755785PKLRc.409G>C (p.Ala137Pro)
c.217G>C (p.Ala73Pro)
c.316G>C (p.Ala106Pro)
c.314G>C (n.314G>C)
c.568G>C (p.Ala190Pro)
1g.155295535C>TCA342755787PKLRc.409G>A (p.Ala137Thr)
c.217G>A (p.Ala73Thr)
c.316G>A (p.Ala106Thr)
c.314G>A (n.314G>A)
c.568G>A (p.Ala190Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.155295536C>ACA342755792PKLRc.408G>T (p.Glu136Asp)
c.216G>T (p.Glu72Asp)
c.315G>T (p.Glu105Asp)
c.313G>T (n.313G>T)
c.567G>T (p.Glu189Asp)
1g.155295536C>GCA342755793PKLRc.408G>C (p.Glu136Asp)
c.216G>C (p.Glu72Asp)
c.315G>C (p.Glu105Asp)
c.313G>C (n.313G>C)
c.567G>C (p.Glu189Asp)
1g.155295536C>TCA421245859PKLRc.408G>A (p.Glu136=)
c.216G>A (p.Glu72=)
c.315G>A (p.Glu105=)
c.313G>A (n.313G>A)
c.567G>A (p.Glu189=)
 gnomAD v4
1g.155295537T>ACA342755796PKLRc.407A>T (p.Glu136Val)
c.215A>T (p.Glu72Val)
c.314A>T (p.Glu105Val)
c.312A>T (n.312A>T)
c.566A>T (p.Glu189Val)
1g.155295537T>CCA342755799PKLRc.407A>G (p.Glu136Gly)
c.215A>G (p.Glu72Gly)
c.314A>G (p.Glu105Gly)
c.312A>G (n.312A>G)
c.566A>G (p.Glu189Gly)
1g.155295537T>GCA342755800PKLRc.407A>C (p.Glu136Ala)
c.215A>C (p.Glu72Ala)
c.314A>C (p.Glu105Ala)
c.312A>C (n.312A>C)
c.566A>C (p.Glu189Ala)
1g.155295538C>ACA342755803PKLRc.406G>T (p.Glu136Ter)
c.214G>T (p.Glu72Ter)
c.313G>T (p.Glu105Ter)
c.311G>T (n.311G>T)
c.565G>T (p.Glu189Ter)
1g.155295538C>GCA342755805PKLRc.406G>C (p.Glu136Gln)
c.214G>C (p.Glu72Gln)
c.313G>C (p.Glu105Gln)
c.311G>C (n.311G>C)
c.565G>C (p.Glu189Gln)
1g.155295538C>TCA342755807PKLRc.406G>A (p.Glu136Lys)
c.214G>A (p.Glu72Lys)
c.313G>A (p.Glu105Lys)
c.311G>A (n.311G>A)
c.565G>A (p.Glu189Lys)
1g.155295540delCA2648264907PKLRc.406del (p.Glu136ArgfsTer?)
c.214del (p.Glu72ArgfsTer?)
c.313del (p.Glu105ArgfsTer?)
c.311del (n.311del)
c.565del (p.Glu189ArgfsTer?)
 gnomAD v4
1g.155295539C>ACA421245864PKLRc.405G>T (p.Arg135=)
c.213G>T (p.Arg71=)
c.312G>T (p.Arg104=)
c.310G>T (n.310G>T)
c.564G>T (p.Arg188=)
1g.155295539C>GCA421245865PKLRc.405G>C (p.Arg135=)
c.213G>C (p.Arg71=)
c.312G>C (p.Arg104=)
c.310G>C (n.310G>C)
c.564G>C (p.Arg188=)
1g.155295539C>TCA421245866PKLRc.405G>A (p.Arg135=)
c.213G>A (p.Arg71=)
c.312G>A (p.Arg104=)
c.310G>A (n.310G>A)
c.564G>A (p.Arg188=)
1g.155295540C>ACA342755810PKLRc.404G>T (p.Arg135Leu)
c.212G>T (p.Arg71Leu)
c.311G>T (p.Arg104Leu)
c.309G>T (n.309G>T)
c.563G>T (p.Arg188Leu)
1g.155295540C>GCA342755811PKLRc.404G>C (p.Arg135Pro)
c.212G>C (p.Arg71Pro)
c.311G>C (p.Arg104Pro)
c.309G>C (n.309G>C)
c.563G>C (p.Arg188Pro)
1g.155295540C>TCA342755813PKLRc.404G>A (p.Arg135Gln)
c.212G>A (p.Arg71Gln)
c.311G>A (p.Arg104Gln)
c.309G>A (n.309G>A)
c.563G>A (p.Arg188Gln)
 gnomAD v4
1g.155295541G>ACA342755819PKLRc.403C>T (p.Arg135Trp)
c.211C>T (p.Arg71Trp)
c.310C>T (p.Arg104Trp)
c.308C>T (n.308C>T)
c.562C>T (p.Arg188Trp)
 ClinVar dbSNP gnomAD v4
1g.155295541G>CCA342755817PKLRc.403C>G (p.Arg135Gly)
c.211C>G (p.Arg71Gly)
c.310C>G (p.Arg104Gly)
c.308C>G (n.308C>G)
c.562C>G (p.Arg188Gly)
1g.155295541G=CA1200112668PKLRc.403C= (p.Arg135=)
c.211C= (p.Arg71=)
c.310C= (p.Arg104=)
c.308C= (n.308C=)
c.562C= (p.Arg188=)
1g.155295541G>TCA1144339PKLRc.403C>A (p.Arg135=)
c.211C>A (p.Arg71=)
c.310C>A (p.Arg104=)
c.308C>A (n.308C>A)
c.562C>A (p.Arg188=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295542G>ACA421245869PKLRc.402C>T (p.Val134=)
c.210C>T (p.Val70=)
c.309C>T (p.Val103=)
c.307C>T (n.307C>T)
c.561C>T (p.Val187=)
 gnomAD v4
1g.155295542G>CCA421245871PKLRc.402C>G (p.Val134=)
c.210C>G (p.Val70=)
c.309C>G (p.Val103=)
c.307C>G (n.307C>G)
c.561C>G (p.Val187=)
 gnomAD v4
1g.155295542G>TCA421245873PKLRc.402C>A (p.Val134=)
c.210C>A (p.Val70=)
c.309C>A (p.Val103=)
c.307C>A (n.307C>A)
c.561C>A (p.Val187=)
1g.155295543A=CA1147801176PKLRc.401T= (p.Val134=)
c.209T= (p.Val70=)
c.308T= (p.Val103=)
c.306T= (n.306T=)
c.560T= (p.Val187=)
1g.155295543A>CCA342755822PKLRc.401T>G (p.Val134Gly)
c.209T>G (p.Val70Gly)
c.308T>G (p.Val103Gly)
c.306T>G (n.306T>G)
c.560T>G (p.Val187Gly)
1g.155295543A>GCA342755825PKLRc.401T>C (p.Val134Ala)
c.209T>C (p.Val70Ala)
c.308T>C (p.Val103Ala)
c.306T>C (n.306T>C)
c.560T>C (p.Val187Ala)
1g.155295543A>TCA1144340PKLRc.401T>A (p.Val134Asp)
c.209T>A (p.Val70Asp)
c.308T>A (p.Val103Asp)
c.306T>A (n.306T>A)
c.560T>A (p.Val187Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155295544C>ACA342755828PKLRc.400G>T (p.Val134Phe)
c.208G>T (p.Val70Phe)
c.307G>T (p.Val103Phe)
c.305G>T (n.305G>T)
c.559G>T (p.Val187Phe)
1g.155295544C>GCA342755830PKLRc.400G>C (p.Val134Leu)
c.208G>C (p.Val70Leu)
c.307G>C (p.Val103Leu)
c.305G>C (n.305G>C)
c.559G>C (p.Val187Leu)
 gnomAD v4
1g.155295544C>TCA342755832PKLRc.400G>A (p.Val134Ile)
c.208G>A (p.Val70Ile)
c.307G>A (p.Val103Ile)
c.305G>A (n.305G>A)
c.559G>A (p.Val187Ile)
 gnomAD v4
1g.155295545G>ACA421245875PKLRc.399C>T (p.Asn133=)
c.207C>T (p.Asn69=)
c.306C>T (p.Asn102=)
c.304C>T (n.304C>T)
c.558C>T (p.Asn186=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155295545G>CCA342755833PKLRc.399C>G (p.Asn133Lys)
c.207C>G (p.Asn69Lys)
c.306C>G (p.Asn102Lys)
c.304C>G (n.304C>G)
c.558C>G (p.Asn186Lys)
1g.155295545G=CA1149145697PKLRc.399C= (p.Asn133=)
c.207C= (p.Asn69=)
c.306C= (p.Asn102=)
c.304C= (n.304C=)
c.558C= (p.Asn186=)
1g.155295545G>TCA1144341PKLRc.399C>A (p.Asn133Lys)
c.207C>A (p.Asn69Lys)
c.306C>A (p.Asn102Lys)
c.304C>A (n.304C>A)
c.558C>A (p.Asn186Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155295546T>ACA1144342PKLRc.398A>T (p.Asn133Ile)
c.206A>T (p.Asn69Ile)
c.305A>T (p.Asn102Ile)
c.303A>T (n.303A>T)
c.557A>T (p.Asn186Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155295546T>CCA342755834PKLRc.398A>G (p.Asn133Ser)
c.206A>G (p.Asn69Ser)
c.305A>G (p.Asn102Ser)
c.303A>G (n.303A>G)
c.557A>G (p.Asn186Ser)
 gnomAD v4
1g.155295546T>GCA342755835PKLRc.398A>C (p.Asn133Thr)
c.206A>C (p.Asn69Thr)
c.305A>C (p.Asn102Thr)
c.303A>C (n.303A>C)
c.557A>C (p.Asn186Thr)
 COSMIC
1g.155295546T=CA1200112669PKLRc.398A= (p.Asn133=)
c.206A= (p.Asn69=)
c.305A= (p.Asn102=)
c.303A= (n.303A=)
c.557A= (p.Asn186=)
1g.155295547T>ACA342755836PKLRc.397A>T (p.Asn133Tyr)
c.205A>T (p.Asn69Tyr)
c.304A>T (p.Asn102Tyr)
c.302A>T (n.302A>T)
c.556A>T (p.Asn186Tyr)
1g.155295547T>CCA342755837PKLRc.397A>G (p.Asn133Asp)
c.205A>G (p.Asn69Asp)
c.304A>G (p.Asn102Asp)
c.302A>G (n.302A>G)
c.556A>G (p.Asn186Asp)
 gnomAD v4
1g.155295547T>GCA342755838PKLRc.397A>C (p.Asn133His)
c.205A>C (p.Asn69His)
c.304A>C (p.Asn102His)
c.302A>C (n.302A>C)
c.556A>C (p.Asn186His)
1g.155295548G>ACA421245879PKLRc.396C>T (p.Ala132=)
c.204C>T (p.Ala68=)
c.303C>T (p.Ala101=)
c.301C>T (n.301C>T)
c.555C>T (p.Ala185=)
1g.155295548G>CCA421245880PKLRc.396C>G (p.Ala132=)
c.204C>G (p.Ala68=)
c.303C>G (p.Ala101=)
c.301C>G (n.301C>G)
c.555C>G (p.Ala185=)
1g.155295548G>TCA421245881PKLRc.396C>A (p.Ala132=)
c.204C>A (p.Ala68=)
c.303C>A (p.Ala101=)
c.301C>A (n.301C>A)
c.555C>A (p.Ala185=)
1g.155295549G>ACA342755843PKLRc.395C>T (p.Ala132Val)
c.203C>T (p.Ala68Val)
c.302C>T (p.Ala101Val)
c.300C>T (n.300C>T)
c.554C>T (p.Ala185Val)
1g.155295549G>CCA342755840PKLRc.395C>G (p.Ala132Gly)
c.203C>G (p.Ala68Gly)
c.302C>G (p.Ala101Gly)
c.300C>G (n.300C>G)
c.554C>G (p.Ala185Gly)
1g.155295549G>TCA342755839PKLRc.395C>A (p.Ala132Asp)
c.203C>A (p.Ala68Asp)
c.302C>A (p.Ala101Asp)
c.300C>A (n.300C>A)
c.554C>A (p.Ala185Asp)
1g.155295550C>ACA342755845PKLRc.394G>T (p.Ala132Ser)
c.202G>T (p.Ala68Ser)
c.301G>T (p.Ala101Ser)
c.299G>T (n.299G>T)
c.553G>T (p.Ala185Ser)
 gnomAD v4
1g.155295550C=CA1200112671PKLRc.394G= (p.Ala132=)
c.202G= (p.Ala68=)
c.301G= (p.Ala101=)
c.299G= (n.299G=)
c.553G= (p.Ala185=)
1g.155295550C>GCA342755847PKLRc.394G>C (p.Ala132Pro)
c.202G>C (p.Ala68Pro)
c.301G>C (p.Ala101Pro)
c.299G>C (n.299G>C)
c.553G>C (p.Ala185Pro)
1g.155295550C>TCA342755849PKLRc.394G>A (p.Ala132Thr)
c.202G>A (p.Ala68Thr)
c.301G>A (p.Ala101Thr)
c.299G>A (n.299G>A)
c.553G>A (p.Ala185Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.155295550_155295553delinsCGATCA1200112670PKLRc.391_394delinsATCG (p.Ile131=)
c.199_202delinsATCG (p.Ile67=)
c.298_301delinsATCG (p.Ile100=)
c.296_299delinsATCG (n.296_299delinsATCG)
c.550_553delinsATCG (p.Ile184=)
1g.155295551G>ACA421245884PKLRc.393C>T (p.Ile131=)
c.201C>T (p.Ile67=)
c.300C>T (p.Ile100=)
c.298C>T (n.298C>T)
c.552C>T (p.Ile184=)
 gnomAD v4
1g.155295551G>CCA342755852PKLRc.393C>G (p.Ile131Met)
c.201C>G (p.Ile67Met)
c.300C>G (p.Ile100Met)
c.298C>G (n.298C>G)
c.552C>G (p.Ile184Met)
1g.155295551G>TCA421245886PKLRc.393C>A (p.Ile131=)
c.201C>A (p.Ile67=)
c.300C>A (p.Ile100=)
c.298C>A (n.298C>A)
c.552C>A (p.Ile184=)
1g.155295552_155295554delCA10608268PKLRc.391_393del (p.Ile131del)
c.199_201del (p.Ile67del)
c.298_300del (p.Ile100del)
c.296_298del (n.296_298del)
c.550_552del (p.Ile184del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155295552A>CCA342755858PKLRc.392T>G (p.Ile131Ser)
c.200T>G (p.Ile67Ser)
c.299T>G (p.Ile100Ser)
c.297T>G (n.297T>G)
c.551T>G (p.Ile184Ser)
1g.155295552A>GCA342755859PKLRc.392T>C (p.Ile131Thr)
c.200T>C (p.Ile67Thr)
c.299T>C (p.Ile100Thr)
c.297T>C (n.297T>C)
c.551T>C (p.Ile184Thr)
1g.155295552A>TCA342755861PKLRc.392T>A (p.Ile131Asn)
c.200T>A (p.Ile67Asn)
c.299T>A (p.Ile100Asn)
c.297T>A (n.297T>A)
c.551T>A (p.Ile184Asn)
1g.155295553T>ACA342755864PKLRc.391A>T (p.Ile131Phe)
c.199A>T (p.Ile67Phe)
c.298A>T (p.Ile100Phe)
c.296A>T (n.296A>T)
c.550A>T (p.Ile184Phe)
1g.155295553T>CCA342755866PKLRc.391A>G (p.Ile131Val)
c.199A>G (p.Ile67Val)
c.298A>G (p.Ile100Val)
c.296A>G (n.296A>G)
c.550A>G (p.Ile184Val)
 gnomAD v4
1g.155295553T>GCA342755868PKLRc.391A>C (p.Ile131Leu)
c.199A>C (p.Ile67Leu)
c.298A>C (p.Ile100Leu)
c.296A>C (n.296A>C)
c.550A>C (p.Ile184Leu)
1g.155295554G>ACA421245887PKLRc.390C>T (p.Ser130=)
c.198C>T (p.Ser66=)
c.297C>T (p.Ser99=)
c.295C>T (n.295C>T)
c.549C>T (p.Ser183=)
1g.155295554G>CCA421245888PKLRc.390C>G (p.Ser130=)
c.198C>G (p.Ser66=)
c.297C>G (p.Ser99=)
c.295C>G (n.295C>G)
c.549C>G (p.Ser183=)
1g.155295554G>TCA421245889PKLRc.390C>A (p.Ser130=)
c.198C>A (p.Ser66=)
c.297C>A (p.Ser99=)
c.295C>A (n.295C>A)
c.549C>A (p.Ser183=)
1g.155295555G>ACA342755874PKLRc.389C>T (p.Ser130Phe)
c.197C>T (p.Ser66Phe)
c.296C>T (p.Ser99Phe)
c.294C>T (n.294C>T)
c.548C>T (p.Ser183Phe)
1g.155295555G>CCA342755873PKLRc.389C>G (p.Ser130Cys)
c.197C>G (p.Ser66Cys)
c.296C>G (p.Ser99Cys)
c.294C>G (n.294C>G)
c.548C>G (p.Ser183Cys)
1g.155295555G=CA1141580351PKLRc.389C= (p.Ser130=)
c.197C= (p.Ser66=)
c.296C= (p.Ser99=)
c.294C= (n.294C=)
c.548C= (p.Ser183=)
1g.155295555G>TCA215081PKLRc.389C>A (p.Ser130Tyr)
c.197C>A (p.Ser66Tyr)
c.296C>A (p.Ser99Tyr)
c.294C>A (n.294C>A)
c.548C>A (p.Ser183Tyr)
 ClinVar dbSNP
1g.155295556A>CCA342755877PKLRc.388T>G (p.Ser130Ala)
c.196T>G (p.Ser66Ala)
c.295T>G (p.Ser99Ala)
c.293T>G (n.293T>G)
c.547T>G (p.Ser183Ala)
1g.155295556A>GCA342755879PKLRc.388T>C (p.Ser130Pro)
c.196T>C (p.Ser66Pro)
c.295T>C (p.Ser99Pro)
c.293T>C (n.293T>C)
c.547T>C (p.Ser183Pro)
1g.155295556A>TCA342755881PKLRc.388T>A (p.Ser130Thr)
c.196T>A (p.Ser66Thr)
c.295T>A (p.Ser99Thr)
c.293T>A (n.293T>A)
c.547T>A (p.Ser183Thr)
1g.155295557C>ACA342755883PKLRc.387G>T (p.Glu129Asp)
c.195G>T (p.Glu65Asp)
c.294G>T (p.Glu98Asp)
c.292G>T (n.292G>T)
c.546G>T (p.Glu182Asp)
1g.155295557C>GCA342755885PKLRc.387G>C (p.Glu129Asp)
c.195G>C (p.Glu65Asp)
c.294G>C (p.Glu98Asp)
c.292G>C (n.292G>C)
c.546G>C (p.Glu182Asp)
1g.155295557C>TCA421245890PKLRc.387G>A (p.Glu129=)
c.195G>A (p.Glu65=)
c.294G>A (p.Glu98=)
c.292G>A (n.292G>A)
c.546G>A (p.Glu182=)
 gnomAD v4
1g.155295558T>ACA342755888PKLRc.386A>T (p.Glu129Val)
c.194A>T (p.Glu65Val)
c.293A>T (p.Glu98Val)
c.291A>T (n.291A>T)
c.545A>T (p.Glu182Val)
1g.155295558T>CCA342755889PKLRc.386A>G (p.Glu129Gly)
c.194A>G (p.Glu65Gly)
c.293A>G (p.Glu98Gly)
c.291A>G (n.291A>G)
c.545A>G (p.Glu182Gly)
1g.155295558T>GCA342755891PKLRc.386A>C (p.Glu129Ala)
c.194A>C (p.Glu65Ala)
c.293A>C (p.Glu98Ala)
c.291A>C (n.291A>C)
c.545A>C (p.Glu182Ala)
1g.155295559C>ACA342755895PKLRc.385G>T (p.Glu129Ter)
c.193G>T (p.Glu65Ter)
c.292G>T (p.Glu98Ter)
c.290G>T (n.290G>T)
c.544G>T (p.Glu182Ter)
1g.155295559C=CA1200112672PKLRc.385G= (p.Glu129=)
c.193G= (p.Glu65=)
c.292G= (p.Glu98=)
c.290G= (n.290G=)
c.544G= (p.Glu182=)
1g.155295559C>GCA342755897PKLRc.385G>C (p.Glu129Gln)
c.193G>C (p.Glu65Gln)
c.292G>C (p.Glu98Gln)
c.290G>C (n.290G>C)
c.544G>C (p.Glu182Gln)
1g.155295559C>TCA1144343PKLRc.385G>A (p.Glu129Lys)
c.193G>A (p.Glu65Lys)
c.292G>A (p.Glu98Lys)
c.290G>A (n.290G>A)
c.544G>A (p.Glu182Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155295560A=CA1200112673PKLRc.384T= (p.Ala128=)
c.192T= (p.Ala64=)
c.291T= (p.Ala97=)
c.289T= (n.289T=)
c.543T= (p.Ala181=)
1g.155295560A>CCA421245891PKLRc.384T>G (p.Ala128=)
c.192T>G (p.Ala64=)
c.291T>G (p.Ala97=)
c.289T>G (n.289T>G)
c.543T>G (p.Ala181=)
 dbSNP gnomAD v4
1g.155295560A>GCA421245892PKLRc.384T>C (p.Ala128=)
c.192T>C (p.Ala64=)
c.291T>C (p.Ala97=)
c.289T>C (n.289T>C)
c.543T>C (p.Ala181=)
1g.155295560A>TCA421245893PKLRc.384T>A (p.Ala128=)
c.192T>A (p.Ala64=)
c.291T>A (p.Ala97=)
c.289T>A (n.289T>A)
c.543T>A (p.Ala181=)
1g.155295561G>ACA342755905PKLRc.383C>T (p.Ala128Val)
c.191C>T (p.Ala64Val)
c.290C>T (p.Ala97Val)
c.288C>T (n.288C>T)
c.542C>T (p.Ala181Val)
1g.155295561G>CCA342755903PKLRc.383C>G (p.Ala128Gly)
c.191C>G (p.Ala64Gly)
c.290C>G (p.Ala97Gly)
c.288C>G (n.288C>G)
c.542C>G (p.Ala181Gly)
1g.155295561G>TCA342755901PKLRc.383C>A (p.Ala128Asp)
c.191C>A (p.Ala64Asp)
c.290C>A (p.Ala97Asp)
c.288C>A (n.288C>A)
c.542C>A (p.Ala181Asp)
1g.155295562C>ACA342755908PKLRc.382G>T (p.Ala128Ser)
c.190G>T (p.Ala64Ser)
c.289G>T (p.Ala97Ser)
c.287G>T (n.287G>T)
c.541G>T (p.Ala181Ser)
 gnomAD v4
1g.155295562C>GCA342755910PKLRc.382G>C (p.Ala128Pro)
c.190G>C (p.Ala64Pro)
c.289G>C (p.Ala97Pro)
c.287G>C (n.287G>C)
c.541G>C (p.Ala181Pro)
 gnomAD v4
1g.155295562C>TCA342755912PKLRc.382G>A (p.Ala128Thr)
c.190G>A (p.Ala64Thr)
c.289G>A (p.Ala97Thr)
c.287G>A (n.287G>A)
c.541G>A (p.Ala181Thr)
1g.155295563A>CCA342755914PKLRc.381T>G (p.His127Gln)
c.189T>G (p.His63Gln)
c.288T>G (p.His96Gln)
c.286T>G (n.286T>G)
c.540T>G (p.His180Gln)
1g.155295563A>GCA421245896PKLRc.381T>C (p.His127=)
c.189T>C (p.His63=)
c.288T>C (p.His96=)
c.286T>C (n.286T>C)
c.540T>C (p.His180=)
1g.155295563A>TCA342755916PKLRc.381T>A (p.His127Gln)
c.189T>A (p.His63Gln)
c.288T>A (p.His96Gln)
c.286T>A (n.286T>A)
c.540T>A (p.His180Gln)
1g.155295564T>ACA342755918PKLRc.380A>T (p.His127Leu)
c.188A>T (p.His63Leu)
c.287A>T (p.His96Leu)
c.285A>T (n.285A>T)
c.539A>T (p.His180Leu)
 gnomAD v4
1g.155295564T>CCA342755920PKLRc.380A>G (p.His127Arg)
c.188A>G (p.His63Arg)
c.287A>G (p.His96Arg)
c.285A>G (n.285A>G)
c.539A>G (p.His180Arg)
 ClinVar dbSNP gnomAD v4
1g.155295564T>GCA342755922PKLRc.380A>C (p.His127Pro)
c.188A>C (p.His63Pro)
c.287A>C (p.His96Pro)
c.285A>C (n.285A>C)
c.539A>C (p.His180Pro)
1g.155295564T=CA1200112674PKLRc.380A= (p.His127=)
c.188A= (p.His63=)
c.287A= (p.His96=)
c.285A= (n.285A=)
c.539A= (p.His180=)
1g.155295565G>ACA342755925PKLRc.379C>T (p.His127Tyr)
c.187C>T (p.His63Tyr)
c.286C>T (p.His96Tyr)
c.284C>T (n.284C>T)
c.538C>T (p.His180Tyr)
 gnomAD v4
1g.155295565G>CCA342755926PKLRc.379C>G (p.His127Asp)
c.187C>G (p.His63Asp)
c.286C>G (p.His96Asp)
c.284C>G (n.284C>G)
c.538C>G (p.His180Asp)
 ClinVar dbSNP
1g.155295565G=CA1200112675PKLRc.379C= (p.His127=)
c.187C= (p.His63=)
c.286C= (p.His96=)
c.284C= (n.284C=)
c.538C= (p.His180=)
1g.155295565G>TCA342755929PKLRc.379C>A (p.His127Asn)
c.187C>A (p.His63Asn)
c.286C>A (p.His96Asn)
c.284C>A (n.284C>A)
c.538C>A (p.His180Asn)

Number of alleles fetched