Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.89333336C>ACA7725116POLG,POLGARFc.419G>T (p.Arg140Leu)
c.474G>T (p.Pro158=)
c.20G>T (p.Arg7Leu)
c.76G>T
n.617G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333336C=CA2194572165POLG,POLGARFc.419G= (p.Arg140=)
c.474G= (p.Pro158=)
c.20G= (p.Arg7=)
c.76G=
n.617G=
15g.89333336C>GCA393771882POLG,POLGARFc.419G>C (p.Arg140Pro)
c.474G>C (p.Pro158=)
c.20G>C (p.Arg7Pro)
c.76G>C
n.617G>C
 gnomAD v4
15g.89333336C>TCA7725115POLG,POLGARFc.419G>A (p.Arg140His)
c.474G>A (p.Pro158=)
c.20G>A (p.Arg7His)
c.76G>A
n.617G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333337G>ACA316881POLG,POLGARFc.418C>T (p.Arg140Cys)
c.473C>T (p.Pro158Leu)
c.19C>T (p.Arg7Cys)
c.75C>T
n.616C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333337G>CCA393771886POLG,POLGARFc.418C>G (p.Arg140Gly)
c.473C>G (p.Pro158Arg)
c.19C>G (p.Arg7Gly)
c.75C>G
n.616C>G
15g.89333337G=CA2194572177POLG,POLGARFc.418C= (p.Arg140=)
c.473C= (p.Pro158=)
c.19C= (p.Arg7=)
c.75C=
n.616C=
15g.89333337G>TCA274565964POLG,POLGARFc.418C>A (p.Arg140Ser)
c.473C>A (p.Pro158Gln)
c.19C>A (p.Arg7Ser)
c.75C>A
n.616C>A
 dbSNP gnomAD v4
15g.89333338G>ACA492290009POLG,POLGARFc.417C>T (p.Phe139=)
c.472C>T (p.Pro158Ser)
c.18C>T (p.Phe6=)
c.74C>T
n.615C>T
 gnomAD v4
15g.89333338G>CCA393771892POLG,POLGARFc.417C>G (p.Phe139Leu)
c.472C>G (p.Pro158Ala)
c.18C>G (p.Phe6Leu)
c.74C>G
n.615C>G
15g.89333338G>TCA393771897POLG,POLGARFc.417C>A (p.Phe139Leu)
c.472C>A (p.Pro158Thr)
c.18C>A (p.Phe6Leu)
c.74C>A
n.615C>A
 gnomAD v4
15g.89333339A>CCA393771901POLG,POLGARFc.416T>G (p.Phe139Cys)
c.471T>G (p.Leu157=)
c.17T>G (p.Phe6Cys)
c.73T>G
n.614T>G
 ClinVar dbSNP
15g.89333339A>GCA393771905POLG,POLGARFc.416T>C (p.Phe139Ser)
c.471T>C (p.Leu157=)
c.17T>C (p.Phe6Ser)
c.73T>C
n.614T>C
15g.89333339A>TCA393771904POLG,POLGARFc.416T>A (p.Phe139Tyr)
c.471T>A (p.Leu157=)
c.17T>A (p.Phe6Tyr)
c.73T>A
n.614T>A
15g.89333340A>CCA393771906POLG,POLGARFc.415T>G (p.Phe139Val)
c.470T>G (p.Leu157Arg)
c.16T>G (p.Phe6Val)
c.72T>G
n.613T>G
15g.89333340A>GCA393771909POLG,POLGARFc.415T>C (p.Phe139Leu)
c.470T>C (p.Leu157Pro)
c.16T>C (p.Phe6Leu)
c.72T>C
n.613T>C
15g.89333340A>TCA393771907POLG,POLGARFc.415T>A (p.Phe139Ile)
c.470T>A (p.Leu157His)
c.16T>A (p.Phe6Ile)
c.72T>A
n.613T>A
15g.89333341G>ACA274565965POLG,POLGARFc.414C>T (p.His138=)
c.469C>T (p.Leu157Phe)
c.15C>T (p.His5=)
c.71C>T
n.612C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333341G>CCA393771911POLG,POLGARFc.414C>G (p.His138Gln)
c.469C>G (p.Leu157Val)
c.15C>G (p.His5Gln)
c.71C>G
n.612C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333341G=CA2194572183POLG,POLGARFc.414C= (p.His138=)
c.469C= (p.Leu157=)
c.15C= (p.His5=)
c.71C=
n.612C=
15g.89333341G>TCA393771914POLG,POLGARFc.414C>A (p.His138Gln)
c.469C>A (p.Leu157Ile)
c.15C>A (p.His5Gln)
c.71C>A
n.612C>A
 gnomAD v4
15g.89333342T>ACA393771918POLG,POLGARFc.413A>T (p.His138Leu)
c.468A>T (p.Ala156=)
c.14A>T (p.His5Leu)
c.70A>T
n.611A>T
15g.89333342T>CCA393771920POLG,POLGARFc.413A>G (p.His138Arg)
c.468A>G (p.Ala156=)
c.14A>G (p.His5Arg)
c.70A>G
n.611A>G
15g.89333342T>GCA7725117POLG,POLGARFc.413A>C (p.His138Pro)
c.468A>C (p.Ala156=)
c.14A>C (p.His5Pro)
c.70A>C
n.611A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333342T=CA2194572188POLG,POLGARFc.413A= (p.His138=)
c.468A= (p.Ala156=)
c.14A= (p.His5=)
c.70A=
n.611A=
15g.89333343G>ACA393771926POLG,POLGARFc.412C>T (p.His138Tyr)
c.467C>T (p.Ala156Val)
c.13C>T (p.His5Tyr)
c.69C>T
n.610C>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333343G>CCA393771938POLG,POLGARFc.412C>G (p.His138Asp)
c.467C>G (p.Ala156Gly)
c.13C>G (p.His5Asp)
c.69C>G
n.610C>G
15g.89333343G=CA2194572199POLG,POLGARFc.412C= (p.His138=)
c.467C= (p.Ala156=)
c.13C= (p.His5=)
c.69C=
n.610C=
15g.89333343G>TCA393771940POLG,POLGARFc.412C>A (p.His138Asn)
c.467C>A (p.Ala156Glu)
c.13C>A (p.His5Asn)
c.69C>A
n.610C>A
 gnomAD v4
15g.89333344C>ACA393771945POLG,POLGARFc.411G>T (p.Gln137His)
c.466G>T (p.Ala156Ser)
c.12G>T (p.Gln4His)
c.68G>T
n.609G>T
 gnomAD v4
15g.89333344C=CA2194572210POLG,POLGARFc.411G= (p.Gln137=)
c.466G= (p.Ala156=)
c.12G= (p.Gln4=)
c.68G=
n.609G=
15g.89333344C>GCA393771947POLG,POLGARFc.411G>C (p.Gln137His)
c.466G>C (p.Ala156Pro)
c.12G>C (p.Gln4His)
c.68G>C
n.609G>C
 gnomAD v4
15g.89333344C>TCA492290012POLG,POLGARFc.411G>A (p.Gln137=)
c.466G>A (p.Ala156Thr)
c.12G>A (p.Gln4=)
c.68G>A
n.609G>A
 ClinVar dbSNP gnomAD v4
15g.89333345T>ACA393771956POLG,POLGARFc.410A>T (p.Gln137Leu)
c.465A>T (p.Pro155=)
c.11A>T (p.Gln4Leu)
c.67A>T
n.608A>T
15g.89333345T>CCA393771954POLG,POLGARFc.410A>G (p.Gln137Arg)
c.465A>G (p.Pro155=)
c.11A>G (p.Gln4Arg)
c.67A>G
n.608A>G
 ClinVar gnomAD v4
15g.89333345T>GCA393771949POLG,POLGARFc.410A>C (p.Gln137Pro)
c.465A>C (p.Pro155=)
c.11A>C (p.Gln4Pro)
c.67A>C
n.608A>C
15g.89333346G>ACA16042970POLG,POLGARFc.409C>T (p.Gln137Ter)
c.464C>T (p.Pro155Leu)
c.10C>T (p.Gln4Ter)
c.66C>T
n.607C>T
 ClinVar dbSNP gnomAD v4
15g.89333346G>CCA393771959POLG,POLGARFc.409C>G (p.Gln137Glu)
c.464C>G (p.Pro155Arg)
c.10C>G (p.Gln4Glu)
c.66C>G
n.607C>G
15g.89333346G=CA2194572216POLG,POLGARFc.409C= (p.Gln137=)
c.464C= (p.Pro155=)
c.10C= (p.Gln4=)
c.66C=
n.607C=
15g.89333346G>TCA393771961POLG,POLGARFc.409C>A (p.Gln137Lys)
c.464C>A (p.Pro155Gln)
c.10C>A (p.Gln4Lys)
c.66C>A
n.607C>A
 gnomAD v4
15g.89333347G>ACA492290015POLG,POLGARFc.408C>T (p.Asp136=)
c.463C>T (p.Pro155Ser)
c.9C>T (p.Asp3=)
c.65C>T
n.606C>T
 gnomAD v4
15g.89333347G>CCA316796POLG,POLGARFc.408C>G (p.Asp136Glu)
c.463C>G (p.Pro155Ala)
c.9C>G (p.Asp3Glu)
c.65C>G
n.606C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333347G=CA2194572224POLG,POLGARFc.408C= (p.Asp136=)
c.463C= (p.Pro155=)
c.9C= (p.Asp3=)
c.65C=
n.606C=
15g.89333347G>TCA393771966POLG,POLGARFc.408C>A (p.Asp136Glu)
c.463C>A (p.Pro155Thr)
c.9C>A (p.Asp3Glu)
c.65C>A
n.606C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333348T>ACA393771971POLG,POLGARFc.407A>T (p.Asp136Val)
c.462A>T (p.Gly154=)
c.8A>T (p.Asp3Val)
c.64A>T
n.605A>T
15g.89333348T>CCA393771973POLG,POLGARFc.407A>G (p.Asp136Gly)
c.462A>G (p.Gly154=)
c.8A>G (p.Asp3Gly)
c.64A>G
n.605A>G
 gnomAD v4
15g.89333348T>GCA393771976POLG,POLGARFc.407A>C (p.Asp136Ala)
c.462A>C (p.Gly154=)
c.8A>C (p.Asp3Ala)
c.64A>C
n.605A>C
 dbSNP gnomAD v2 gnomAD v4
15g.89333348T=CA2194572231POLG,POLGARFc.407A= (p.Asp136=)
c.462A= (p.Gly154=)
c.8A= (p.Asp3=)
c.64A=
n.605A=
15g.89333349C>ACA393771981POLG,POLGARFc.406G>T (p.Asp136Tyr)
c.461G>T (p.Gly154Val)
c.7G>T (p.Asp3Tyr)
c.63G>T
n.604G>T
 ClinVar gnomAD v4
15g.89333349C>GCA393771987POLG,POLGARFc.406G>C (p.Asp136His)
c.461G>C (p.Gly154Ala)
c.7G>C (p.Asp3His)
c.63G>C
n.604G>C
15g.89333349C>TCA393771990POLG,POLGARFc.406G>A (p.Asp136Asn)
c.461G>A (p.Gly154Glu)
c.7G>A (p.Asp3Asn)
c.63G>A
n.604G>A
 gnomAD v4
15g.89333350C>ACA492290018POLG,POLGARFc.405G>T (p.Leu135=)
c.460G>T (p.Gly154Ter)
c.6G>T (p.Leu2=)
c.62G>T
n.603G>T
 gnomAD v4
15g.89333350C=CA2194572237POLG,POLGARFc.405G= (p.Leu135=)
c.460G= (p.Gly154=)
c.6G= (p.Leu2=)
c.62G=
n.603G=
15g.89333350C>GCA492290019POLG,POLGARFc.405G>C (p.Leu135=)
c.460G>C (p.Gly154Arg)
c.6G>C (p.Leu2=)
c.62G>C
n.603G>C
 ClinVar
15g.89333350C>TCA492290016POLG,POLGARFc.405G>A (p.Leu135=)
c.460G>A (p.Gly154Arg)
c.6G>A (p.Leu2=)
c.62G>A
n.603G>A
 ClinVar dbSNP
15g.89333351A>CCA393771996POLG,POLGARFc.404T>G (p.Leu135Arg)
c.459T>G (p.Pro153=)
c.5T>G (p.Leu2Arg)
c.61T>G
n.602T>G
15g.89333351A>GCA393771999POLG,POLGARFc.404T>C (p.Leu135Pro)
c.459T>C (p.Pro153=)
c.5T>C (p.Leu2Pro)
c.61T>C
n.602T>C
 gnomAD v4
15g.89333351A>TCA393771993POLG,POLGARFc.404T>A (p.Leu135Gln)
c.459T>A (p.Pro153=)
c.5T>A (p.Leu2Gln)
c.61T>A
n.602T>A
15g.89333352G>ACA274565970POLG,POLGARFc.403C>T (p.Leu135=)
c.458C>T (p.Pro153Leu)
c.4C>T (p.Leu2=)
c.60C>T
n.601C>T
 ClinVar dbSNP gnomAD v4
15g.89333352G>CCA393772000POLG,POLGARFc.403C>G (p.Leu135Val)
c.458C>G (p.Pro153Arg)
c.4C>G (p.Leu2Val)
c.60C>G
n.601C>G
15g.89333352G=CA2194572239POLG,POLGARFc.403C= (p.Leu135=)
c.458C= (p.Pro153=)
c.4C= (p.Leu2=)
c.60C=
n.601C=
15g.89333352G>TCA393772001POLG,POLGARFc.403C>A (p.Leu135Met)
c.458C>A (p.Pro153His)
c.4C>A (p.Leu2Met)
c.60C>A
n.601C>A
 gnomAD v4
15g.89333353G>ACA492290025POLG,POLGARFc.402C>T (p.Asn134=)
c.457C>T (p.Pro153Ser)
c.3C>T (p.Asn1=)
c.59C>T
n.600C>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333353G>CCA7725118POLG,POLGARFc.402C>G (p.Asn134Lys)
c.457C>G (p.Pro153Ala)
c.3C>G (p.Asn1Lys)
c.59C>G
n.600C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333353G=CA2194572246POLG,POLGARFc.402C= (p.Asn134=)
c.457C= (p.Pro153=)
c.3C= (p.Asn1=)
c.59C=
n.600C=
15g.89333353G>TCA393772005POLG,POLGARFc.402C>A (p.Asn134Lys)
c.457C>A (p.Pro153Thr)
c.3C>A (p.Asn1Lys)
c.59C>A
n.600C>A
 gnomAD v4
15g.89333354T>ACA393772008POLG,POLGARFc.401A>T (p.Asn134Ile)
c.456A>T (p.Gln152His)
c.2A>T (p.Asn1Ile)
c.58A>T
n.599A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333354T>CCA7725119POLG,POLGARFc.401A>G (p.Asn134Ser)
c.456A>G (p.Gln152=)
c.2A>G (p.Asn1Ser)
c.58A>G
n.599A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333354T>GCA393772013POLG,POLGARFc.401A>C (p.Asn134Thr)
c.456A>C (p.Gln152His)
c.2A>C (p.Asn1Thr)
c.58A>C
n.599A>C
15g.89333354T=CA2194572249POLG,POLGARFc.401A= (p.Asn134=)
c.456A= (p.Gln152=)
c.2A= (p.Asn1=)
c.58A=
n.599A=
15g.89333355T>ACA393772016POLG,POLGARFc.400A>T (p.Asn134Tyr)
c.455A>T (p.Gln152Leu)
c.1A>T (p.Asn1Tyr)
c.57A>T
n.598A>T
15g.89333355T>CCA393772019POLG,POLGARFc.400A>G (p.Asn134Asp)
c.455A>G (p.Gln152Arg)
c.1A>G (p.Asn1Asp)
c.57A>G
n.598A>G
 gnomAD v4
15g.89333355T>GCA393772022POLG,POLGARFc.400A>C (p.Asn134His)
c.455A>C (p.Gln152Pro)
c.1A>C (p.Asn1His)
c.57A>C
n.598A>C
15g.89333356G>ACA492290028POLG,POLGARFc.399C>T (p.Asp133=)
c.454C>T (p.Gln152Ter)
c.56C>T
n.597C>T
15g.89333356G>CCA393772025POLG,POLGARFc.399C>G (p.Asp133Glu)
c.454C>G (p.Gln152Glu)
c.56C>G
n.597C>G
15g.89333356G>TCA393772028POLG,POLGARFc.399C>A (p.Asp133Glu)
c.454C>A (p.Gln152Lys)
c.56C>A
n.597C>A
 gnomAD v4
15g.89333357delCA2805168372POLG,POLGARFc.398del (p.Asp133AlafsTer?)
c.453del (p.Gln152AsnfsTer?)
c.55del
n.596del
15g.89333357T>ACA393772037POLG,POLGARFc.398A>T (p.Asp133Val)
c.453A>T (p.Gly151=)
c.55A>T
n.596A>T
15g.89333357T>CCA7725120POLG,POLGARFc.398A>G (p.Asp133Gly)
c.453A>G (p.Gly151=)
c.55A>G
n.596A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333357T>GCA393772034POLG,POLGARFc.398A>C (p.Asp133Ala)
c.453A>C (p.Gly151=)
c.55A>C
n.596A>C
15g.89333357T=CA2194572254POLG,POLGARFc.398A= (p.Asp133=)
c.453A= (p.Gly151=)
c.55A=
n.596A=
15g.89333358C>ACA393772041POLG,POLGARFc.397G>T (p.Asp133Tyr)
c.452G>T (p.Gly151Val)
c.54G>T
n.595G>T
 gnomAD v4
15g.89333358C>GCA393772045POLG,POLGARFc.397G>C (p.Asp133His)
c.452G>C (p.Gly151Ala)
c.54G>C
n.595G>C
15g.89333358C>TCA393772048POLG,POLGARFc.397G>A (p.Asp133Asn)
c.452G>A (p.Gly151Glu)
c.54G>A
n.595G>A
 gnomAD v4
15g.89333360_89333361delCA2630256933POLG,POLGARFc.396_397del (p.Asp133GlnfsTer?)
c.451_452del (p.Gly151ThrfsTer?)
c.53_54del
n.594_595del
 gnomAD v4
15g.89333359C>ACA492290032POLG,POLGARFc.396G>T (p.Gly132=)
c.451G>T (p.Gly151Ter)
c.53G>T
n.594G>T
 gnomAD v4
15g.89333359C>GCA492290033POLG,POLGARFc.396G>C (p.Gly132=)
c.451G>C (p.Gly151Arg)
c.53G>C
n.594G>C
15g.89333359C>TCA492290034POLG,POLGARFc.396G>A (p.Gly132=)
c.451G>A (p.Gly151Arg)
c.53G>A
n.594G>A
 ClinVar gnomAD v4
15g.89333360C>ACA393772050POLG,POLGARFc.395G>T (p.Gly132Val)
c.450G>T (p.Arg150=)
c.52G>T
n.593G>T
 gnomAD v4
15g.89333360C=CA2194572262POLG,POLGARFc.395G= (p.Gly132=)
c.450G= (p.Arg150=)
c.52G=
n.593G=
15g.89333360C>GCA393772053POLG,POLGARFc.395G>C (p.Gly132Ala)
c.450G>C (p.Arg150=)
c.52G>C
n.593G>C
15g.89333360C>TCA16614589POLG,POLGARFc.395G>A (p.Gly132Glu)
c.450G>A (p.Arg150=)
c.52G>A
n.593G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333361C>ACA393772059POLG,POLGARFc.394G>T (p.Gly132Trp)
c.449G>T (p.Arg150Leu)
c.51G>T
n.592G>T
 gnomAD v4
15g.89333361C=CA2194572266POLG,POLGARFc.394G= (p.Gly132=)
c.449G= (p.Arg150=)
c.51G=
n.592G=
15g.89333361C>GCA7725121POLG,POLGARFc.394G>C (p.Gly132Arg)
c.449G>C (p.Arg150Pro)
c.51G>C
n.592G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333361C>TCA393772065POLG,POLGARFc.394G>A (p.Gly132Arg)
c.449G>A (p.Arg150Gln)
c.51G>A
n.592G>A
 ClinVar dbSNP gnomAD v4
15g.89333362G>ACA7725122POLG,POLGARFc.393C>T (p.Tyr131=)
c.448C>T (p.Arg150Trp)
c.50C>T
n.591C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333362G>CCA393772072POLG,POLGARFc.393C>G (p.Tyr131Ter)
c.448C>G (p.Arg150Gly)
c.50C>G
n.591C>G
15g.89333362G=CA2194572270POLG,POLGARFc.393C= (p.Tyr131=)
c.448C= (p.Arg150=)
c.50C=
n.591C=
15g.89333362G>TCA393772075POLG,POLGARFc.393C>A (p.Tyr131Ter)
c.448C>A (p.Arg150=)
c.50C>A
n.591C>A
 gnomAD v4
15g.89333363T>ACA393772085POLG,POLGARFc.392A>T (p.Tyr131Phe)
c.447A>T (p.Leu149=)
c.49A>T
n.590A>T
15g.89333363T>CCA274565991POLG,POLGARFc.392A>G (p.Tyr131Cys)
c.447A>G (p.Leu149=)
c.49A>G
n.590A>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333363T>GCA393772077POLG,POLGARFc.392A>C (p.Tyr131Ser)
c.447A>C (p.Leu149=)
c.49A>C
n.590A>C
15g.89333363T=CA2194572277POLG,POLGARFc.392A= (p.Tyr131=)
c.447A= (p.Leu149=)
c.49A=
n.590A=
15g.89333364A=CA2194572285POLG,POLGARFc.391T= (p.Tyr131=)
c.446T= (p.Leu149=)
c.48T=
n.589T=
15g.89333364A>CCA393772089POLG,POLGARFc.391T>G (p.Tyr131Asp)
c.446T>G (p.Leu149Arg)
c.48T>G
n.589T>G
15g.89333364A>GCA316634POLG,POLGARFc.391T>C (p.Tyr131His)
c.446T>C (p.Leu149Pro)
c.48T>C
n.589T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333364A>TCA393772093POLG,POLGARFc.391T>A (p.Tyr131Asn)
c.446T>A (p.Leu149Gln)
c.48T>A
n.589T>A
15g.89333365G>ACA492290040POLG,POLGARFc.390C>T (p.Leu130=)
c.445C>T (p.Leu149=)
c.47C>T
n.588C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333365G>CCA492290041POLG,POLGARFc.390C>G (p.Leu130=)
c.445C>G (p.Leu149Val)
c.47C>G
n.588C>G
15g.89333365G=CA2194572288POLG,POLGARFc.390C= (p.Leu130=)
c.445C= (p.Leu149=)
c.47C=
n.588C=
15g.89333365G>TCA492290042POLG,POLGARFc.390C>A (p.Leu130=)
c.445C>A (p.Leu149Ile)
c.47C>A
n.588C>A
 gnomAD v4
15g.89333366delCA2630256934POLG,POLGARFc.389del (p.Leu130ProfsTer?)
c.444del (p.Leu149TyrfsTer?)
c.46del
n.587del
 gnomAD v4
15g.89333366A>CCA393772100POLG,POLGARFc.389T>G (p.Leu130Arg)
c.444T>G (p.Pro148=)
c.46T>G
n.587T>G
15g.89333366A>GCA393772102POLG,POLGARFc.389T>C (p.Leu130Pro)
c.444T>C (p.Pro148=)
c.46T>C
n.587T>C
15g.89333366A>TCA393772107POLG,POLGARFc.389T>A (p.Leu130His)
c.444T>A (p.Pro148=)
c.46T>A
n.587T>A
 gnomAD v4
15g.89333367G>ACA274565998POLG,POLGARFc.388C>T (p.Leu130Phe)
c.443C>T (p.Pro148Leu)
c.45C>T
n.586C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333367G>CCA393772113POLG,POLGARFc.388C>G (p.Leu130Val)
c.443C>G (p.Pro148Arg)
c.45C>G
n.586C>G
 gnomAD v4
15g.89333367G=CA2194572298POLG,POLGARFc.388C= (p.Leu130=)
c.443C= (p.Pro148=)
c.45C=
n.586C=
15g.89333367G>TCA393772116POLG,POLGARFc.388C>A (p.Leu130Ile)
c.443C>A (p.Pro148His)
c.45C>A
n.586C>A
 ClinVar gnomAD v4
15g.89333368G>ACA492290047POLG,POLGARFc.387C>T (p.Pro129=)
c.442C>T (p.Pro148Ser)
c.44C>T
n.585C>T
 gnomAD v4
15g.89333368G>CCA492290048POLG,POLGARFc.387C>G (p.Pro129=)
c.442C>G (p.Pro148Ala)
c.44C>G
n.585C>G
15g.89333368G>TCA492290049POLG,POLGARFc.387C>A (p.Pro129=)
c.442C>A (p.Pro148Thr)
c.44C>A
n.585C>A
 gnomAD v4
15g.89333368_89333375delinsGGGCGGCACA2194572300POLG,POLGARFc.380_387delinsTGCCGCCC (p.Leu127=)
c.435_442delinsTGCCGCCC (p.Pro145=)
c.37_44delinsTGCCGCCC
n.578_585delinsTGCCGCCC
15g.89333369G>ACA393772120POLG,POLGARFc.386C>T (p.Pro129Leu)
c.441C>T (p.Ala147=)
c.43C>T
n.584C>T
 ClinVar
15g.89333369G>CCA393772125POLG,POLGARFc.386C>G (p.Pro129Arg)
c.441C>G (p.Ala147=)
c.43C>G
n.584C>G
15g.89333369G>TCA393772128POLG,POLGARFc.386C>A (p.Pro129His)
c.441C>A (p.Ala147=)
c.43C>A
n.584C>A
 gnomAD v4
15g.89333373_89333379delCA16620026POLG,POLGARFc.380_386del (p.Leu127ProfsTer?)
c.435_441del (p.Ala146LeufsTer?)
c.37_43del
n.578_584del
 ClinVar dbSNP gnomAD v4
15g.89333370G>ACA393772131POLG,POLGARFc.385C>T (p.Pro129Ser)
c.440C>T (p.Ala147Val)
c.42C>T
n.583C>T
 gnomAD v4
15g.89333370G>CCA7725123POLG,POLGARFc.385C>G (p.Pro129Ala)
c.440C>G (p.Ala147Gly)
c.42C>G
n.583C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333370G=CA2194572302POLG,POLGARFc.385C= (p.Pro129=)
c.440C= (p.Ala147=)
c.42C=
n.583C=
15g.89333370G>TCA393772135POLG,POLGARFc.385C>A (p.Pro129Thr)
c.440C>A (p.Ala147Asp)
c.42C>A
n.583C>A
 gnomAD v4
15g.89333371C>ACA10602287POLG,POLGARFc.384G>T (p.Pro128=)
c.439G>T (p.Ala147Ser)
c.41G>T
n.582G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333371C=CA2194572307POLG,POLGARFc.384G= (p.Pro128=)
c.439G= (p.Ala147=)
c.41G=
n.582G=
15g.89333371C>GCA7725124POLG,POLGARFc.384G>C (p.Pro128=)
c.439G>C (p.Ala147Pro)
c.41G>C
n.582G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333371C>TCA492290051POLG,POLGARFc.384G>A (p.Pro128=)
c.439G>A (p.Ala147Thr)
c.41G>A
n.582G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333372G>ACA393772139POLG,POLGARFc.383C>T (p.Pro128Leu)
c.438C>T (p.Ala146=)
c.40C>T
n.581C>T
 dbSNP gnomAD v4
15g.89333372G>CCA393772141POLG,POLGARFc.383C>G (p.Pro128Arg)
c.438C>G (p.Ala146=)
c.40C>G
n.581C>G
15g.89333372G>TCA393772143POLG,POLGARFc.383C>A (p.Pro128Gln)
c.438C>A (p.Ala146=)
c.40C>A
n.581C>A
 gnomAD v4
15g.89333373G>ACA393772146POLG,POLGARFc.382C>T (p.Pro128Ser)
c.437C>T (p.Ala146Val)
c.39C>T
n.580C>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333373G>CCA393772149POLG,POLGARFc.382C>G (p.Pro128Ala)
c.437C>G (p.Ala146Gly)
c.39C>G
n.580C>G
15g.89333373G=CA2194572316POLG,POLGARFc.382C= (p.Pro128=)
c.437C= (p.Ala146=)
c.39C=
n.580C=
15g.89333373G>TCA393772152POLG,POLGARFc.382C>A (p.Pro128Thr)
c.437C>A (p.Ala146Asp)
c.39C>A
n.580C>A
 gnomAD v4
15g.89333375_89333383dupCA972593940POLG,POLGARFc.374_382dup (p.Leu127_Pro128insLeuArgLeu)
c.429_437dup (p.Ala146_Ala147insAlaProAla)
c.31_39dup
n.572_580dup
 gnomAD v3 gnomAD v4
15g.89333374C>ACA16607929POLG,POLGARFc.381G>T (p.Leu127=)
c.436G>T (p.Ala146Ser)
c.38G>T
n.579G>T
 ClinVar dbSNP gnomAD v4
15g.89333374C=CA2194572319POLG,POLGARFc.381G= (p.Leu127=)
c.436G= (p.Ala146=)
c.38G=
n.579G=
15g.89333374C>GCA492290054POLG,POLGARFc.381G>C (p.Leu127=)
c.436G>C (p.Ala146Pro)
c.38G>C
n.579G>C
15g.89333374C>TCA492290053POLG,POLGARFc.381G>A (p.Leu127=)
c.436G>A (p.Ala146Thr)
c.38G>A
n.579G>A
 ClinVar gnomAD v4
15g.89333375A>CCA393772158POLG,POLGARFc.380T>G (p.Leu127Arg)
c.435T>G (p.Pro145=)
c.37T>G
n.578T>G
15g.89333375A>GCA393772161POLG,POLGARFc.380T>C (p.Leu127Pro)
c.435T>C (p.Pro145=)
c.37T>C
n.578T>C
 gnomAD v4
15g.89333375A>TCA393772163POLG,POLGARFc.380T>A (p.Leu127Gln)
c.435T>A (p.Pro145=)
c.37T>A
n.578T>A
15g.89333376G>ACA492290055POLG,POLGARFc.379C>T (p.Leu127=)
c.434C>T (p.Pro145Leu)
c.36C>T
n.577C>T
 ClinVar dbSNP gnomAD v4
15g.89333376G>CCA393772167POLG,POLGARFc.379C>G (p.Leu127Val)
c.434C>G (p.Pro145Arg)
c.36C>G
n.577C>G
15g.89333376G=CA2194572326POLG,POLGARFc.379C= (p.Leu127=)
c.434C= (p.Pro145=)
c.36C=
n.577C=
15g.89333376G>TCA7725125POLG,POLGARFc.379C>A (p.Leu127Met)
c.434C>A (p.Pro145His)
c.36C>A
n.577C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333377G>ACA492290056POLG,POLGARFc.378C>T (p.Arg126=)
c.433C>T (p.Pro145Ser)
c.35C>T
n.576C>T
 gnomAD v4
15g.89333377G>CCA492290058POLG,POLGARFc.378C>G (p.Arg126=)
c.433C>G (p.Pro145Ala)
c.35C>G
n.576C>G
 ClinVar dbSNP
15g.89333377G=CA2194572328POLG,POLGARFc.378C= (p.Arg126=)
c.433C= (p.Pro145=)
c.35C=
n.576C=
15g.89333377G>TCA7725126POLG,POLGARFc.378C>A (p.Arg126=)
c.433C>A (p.Pro145Thr)
c.35C>A
n.576C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333378C>ACA274566027POLG,POLGARFc.377G>T (p.Arg126Leu)
c.432G>T (p.Ala144=)
c.34G>T
n.575G>T
 dbSNP gnomAD v3 gnomAD v4
15g.89333378C=CA2194572333POLG,POLGARFc.377G= (p.Arg126=)
c.432G= (p.Ala144=)
c.34G=
n.575G=
15g.89333378C>GCA393772182POLG,POLGARFc.377G>C (p.Arg126Pro)
c.432G>C (p.Ala144=)
c.34G>C
n.575G>C
15g.89333378C>TCA393772179POLG,POLGARFc.377G>A (p.Arg126His)
c.432G>A (p.Ala144=)
c.34G>A
n.575G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333379G>ACA274566028POLG,POLGARFc.376C>T (p.Arg126Cys)
c.431C>T (p.Ala144Val)
c.33C>T
n.574C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333379G>CCA393772188POLG,POLGARFc.376C>G (p.Arg126Gly)
c.431C>G (p.Ala144Gly)
c.33C>G
n.574C>G
15g.89333379G=CA2194572337POLG,POLGARFc.376C= (p.Arg126=)
c.431C= (p.Ala144=)
c.33C=
n.574C=
15g.89333379G>TCA393772192POLG,POLGARFc.376C>A (p.Arg126Ser)
c.431C>A (p.Ala144Glu)
c.33C>A
n.574C>A
 gnomAD v4
15g.89333380C>ACA492290060POLG,POLGARFc.375G>T (p.Leu125=)
c.430G>T (p.Ala144Ser)
c.32G>T
n.573G>T
 gnomAD v4
15g.89333380C>GCA492290062POLG,POLGARFc.375G>C (p.Leu125=)
c.430G>C (p.Ala144Pro)
c.32G>C
n.573G>C
15g.89333380C>TCA492290064POLG,POLGARFc.375G>A (p.Leu125=)
c.430G>A (p.Ala144Thr)
c.32G>A
n.573G>A
15g.89333381A>CCA393772198POLG,POLGARFc.374T>G (p.Leu125Arg)
c.429T>G (p.Ala143=)
c.31T>G
n.572T>G
 gnomAD v4
15g.89333381A>GCA393772201POLG,POLGARFc.374T>C (p.Leu125Pro)
c.429T>C (p.Ala143=)
c.31T>C
n.572T>C
15g.89333381A>TCA393772203POLG,POLGARFc.374T>A (p.Leu125Gln)
c.429T>A (p.Ala143=)
c.31T>A
n.572T>A
15g.89333382G>ACA492290066POLG,POLGARFc.373C>T (p.Leu125=)
c.428C>T (p.Ala143Val)
c.30C>T
n.571C>T
 gnomAD v4
15g.89333382G>CCA393772214POLG,POLGARFc.373C>G (p.Leu125Val)
c.428C>G (p.Ala143Gly)
c.30C>G
n.571C>G
 ClinVar gnomAD v4
15g.89333382G>TCA393772216POLG,POLGARFc.373C>A (p.Leu125Met)
c.428C>A (p.Ala143Asp)
c.30C>A
n.571C>A
 gnomAD v4 COSMIC
15g.89333383C>ACA393772222POLG,POLGARFc.372G>T (p.Glu124Asp)
c.427G>T (p.Ala143Ser)
c.29G>T
n.570G>T
 ClinVar dbSNP gnomAD v4
15g.89333383C=CA2194572339POLG,POLGARFc.372G= (p.Glu124=)
c.427G= (p.Ala143=)
c.29G=
n.570G=
15g.89333383C>GCA274566030POLG,POLGARFc.372G>C (p.Glu124Asp)
c.427G>C (p.Ala143Pro)
c.29G>C
n.570G>C
 dbSNP
15g.89333383C>TCA492290068POLG,POLGARFc.372G>A (p.Glu124=)
c.427G>A (p.Ala143Thr)
c.29G>A
n.570G>A
15g.89333384T>ACA393772231POLG,POLGARFc.371A>T (p.Glu124Val)
c.426A>T (p.Gly142=)
c.28A>T
n.569A>T
 ClinVar dbSNP gnomAD v4
15g.89333384T>CCA393772237POLG,POLGARFc.371A>G (p.Glu124Gly)
c.426A>G (p.Gly142=)
c.28A>G
n.569A>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333384T>GCA393772247POLG,POLGARFc.371A>C (p.Glu124Ala)
c.426A>C (p.Gly142=)
c.28A>C
n.569A>C
15g.89333384T=CA2194572342POLG,POLGARFc.371A= (p.Glu124=)
c.426A= (p.Gly142=)
c.28A=
n.569A=
15g.89333385C>ACA393772251POLG,POLGARFc.370G>T (p.Glu124Ter)
c.425G>T (p.Gly142Val)
c.27G>T
n.568G>T
 gnomAD v4
15g.89333385C>GCA393772259POLG,POLGARFc.370G>C (p.Glu124Gln)
c.425G>C (p.Gly142Ala)
c.27G>C
n.568G>C
15g.89333385C>TCA393772255POLG,POLGARFc.370G>A (p.Glu124Lys)
c.425G>A (p.Gly142Glu)
c.27G>A
n.568G>A
 gnomAD v4
15g.89333386C>ACA492290070POLG,POLGARFc.369G>T (p.Val123=)
c.424G>T (p.Gly142Ter)
c.26G>T
n.567G>T
15g.89333386C>GCA492290071POLG,POLGARFc.369G>C (p.Val123=)
c.424G>C (p.Gly142Arg)
c.26G>C
n.567G>C
15g.89333386C>TCA492290072POLG,POLGARFc.369G>A (p.Val123=)
c.424G>A (p.Gly142Arg)
c.26G>A
n.567G>A
15g.89333387A>CCA393772269POLG,POLGARFc.368T>G (p.Val123Gly)
c.423T>G (p.Arg141=)
c.25T>G
n.566T>G
 ClinVar
15g.89333387A>GCA393772273POLG,POLGARFc.368T>C (p.Val123Ala)
c.423T>C (p.Arg141=)
c.25T>C
n.566T>C
15g.89333387A>TCA393772277POLG,POLGARFc.368T>A (p.Val123Glu)
c.423T>A (p.Arg141=)
c.25T>A
n.566T>A
15g.89333388C>ACA393772284POLG,POLGARFc.367G>T (p.Val123Leu)
c.422G>T (p.Arg141Leu)
c.24G>T
n.565G>T
 gnomAD v4
15g.89333388C=CA2194572345POLG,POLGARFc.367G= (p.Val123=)
c.422G= (p.Arg141=)
c.24G=
n.565G=
15g.89333388C>GCA393772286POLG,POLGARFc.367G>C (p.Val123Leu)
c.422G>C (p.Arg141Pro)
c.24G>C
n.565G>C
 ClinVar dbSNP gnomAD v4
15g.89333388C>TCA393772288POLG,POLGARFc.367G>A (p.Val123Met)
c.422G>A (p.Arg141His)
c.24G>A
n.565G>A
 dbSNP gnomAD v3 gnomAD v4
15g.89333389G>ACA492290076POLG,POLGARFc.366C>T (p.Asp122=)
c.421C>T (p.Arg141Cys)
c.23C>T
n.564C>T
 ClinVar dbSNP gnomAD v4
15g.89333389G>CCA393772291POLG,POLGARFc.366C>G (p.Asp122Glu)
c.421C>G (p.Arg141Gly)
c.23C>G
n.564C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333389G=CA2194572349POLG,POLGARFc.366C= (p.Asp122=)
c.421C= (p.Arg141=)
c.23C=
n.564C=
15g.89333389G>TCA393772295POLG,POLGARFc.366C>A (p.Asp122Glu)
c.421C>A (p.Arg141Ser)
c.23C>A
n.564C>A
 gnomAD v4
15g.89333390T>ACA393772302POLG,POLGARFc.365A>T (p.Asp122Val)
c.420A>T (p.Arg140=)
c.22A>T
n.563A>T
15g.89333390T>CCA393772306POLG,POLGARFc.365A>G (p.Asp122Gly)
c.420A>G (p.Arg140=)
c.22A>G
n.563A>G
15g.89333390T>GCA393772307POLG,POLGARFc.365A>C (p.Asp122Ala)
c.420A>C (p.Arg140=)
c.22A>C
n.563A>C
15g.89333391C>ACA393772315POLG,POLGARFc.364G>T (p.Asp122Tyr)
c.419G>T (p.Arg140Leu)
c.21G>T
n.562G>T
 ClinVar dbSNP gnomAD v4
15g.89333391C=CA2194572353POLG,POLGARFc.364G= (p.Asp122=)
c.419G= (p.Arg140=)
c.21G=
n.562G=
15g.89333391C>GCA393772318POLG,POLGARFc.364G>C (p.Asp122His)
c.419G>C (p.Arg140Pro)
c.21G>C
n.562G>C
15g.89333391C>TCA393772312POLG,POLGARFc.364G>A (p.Asp122Asn)
c.419G>A (p.Arg140Gln)
c.21G>A
n.562G>A
 dbSNP gnomAD v4
15g.89333392G>ACA492290081POLG,POLGARFc.363C>T (p.Pro121=)
c.418C>T (p.Arg140Ter)
c.20C>T
n.561C>T
 dbSNP gnomAD v4
15g.89333392G>CCA492290082POLG,POLGARFc.363C>G (p.Pro121=)
c.418C>G (p.Arg140Gly)
c.20C>G
n.561C>G
 ClinVar dbSNP gnomAD v4
15g.89333392G=CA2194572359POLG,POLGARFc.363C= (p.Pro121=)
c.418C= (p.Arg140=)
c.20C=
n.561C=
15g.89333392G>TCA492290080POLG,POLGARFc.363C>A (p.Pro121=)
c.418C>A (p.Arg140=)
c.20C>A
n.561C>A
 gnomAD v4
15g.89333397_89333402delCA2630256935POLG,POLGARFc.358_363del (p.Leu120_Pro121del)
c.413_418del (p.Leu138_Ala139del)
c.15_20del
n.556_561del
 gnomAD v4
15g.89333393G>ACA393772326POLG,POLGARFc.362C>T (p.Pro121Leu)
c.417C>T (p.Ala139=)
c.19C>T
n.560C>T
 gnomAD v4
15g.89333393G>CCA393772322POLG,POLGARFc.362C>G (p.Pro121Arg)
c.417C>G (p.Ala139=)
c.19C>G
n.560C>G
15g.89333393G>TCA393772324POLG,POLGARFc.362C>A (p.Pro121His)
c.417C>A (p.Ala139=)
c.19C>A
n.560C>A
 gnomAD v4
15g.89333394G>ACA393772336POLG,POLGARFc.361C>T (p.Pro121Ser)
c.416C>T (p.Ala139Val)
c.18C>T
n.559C>T
 gnomAD v4
15g.89333394G>CCA393772339POLG,POLGARFc.361C>G (p.Pro121Ala)
c.416C>G (p.Ala139Gly)
c.18C>G
n.559C>G
15g.89333394G>TCA393772342POLG,POLGARFc.361C>A (p.Pro121Thr)
c.416C>A (p.Ala139Asp)
c.18C>A
n.559C>A
 gnomAD v4
15g.89333395C>ACA10606097POLG,POLGARFc.360G>T (p.Leu120Phe)
c.415G>T (p.Ala139Ser)
c.17G>T
n.558G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333395C=CA2194572370POLG,POLGARFc.360G= (p.Leu120=)
c.415G= (p.Ala139=)
c.17G=
n.558G=
15g.89333395C>GCA393772348POLG,POLGARFc.360G>C (p.Leu120Phe)
c.415G>C (p.Ala139Pro)
c.17G>C
n.558G>C
 ClinVar gnomAD v4
15g.89333395C>TCA492290083POLG,POLGARFc.360G>A (p.Leu120=)
c.415G>A (p.Ala139Thr)
c.17G>A
n.558G>A
15g.89333396A>CCA393772374POLG,POLGARFc.359T>G (p.Leu120Trp)
c.414T>G (p.Leu138=)
c.16T>G
n.557T>G
15g.89333396A>GCA393772366POLG,POLGARFc.359T>C (p.Leu120Ser)
c.414T>C (p.Leu138=)
c.16T>C
n.557T>C
15g.89333396A>TCA393772369POLG,POLGARFc.359T>A (p.Leu120Ter)
c.414T>A (p.Leu138=)
c.16T>A
n.557T>A
15g.89333397A>CCA393772382POLG,POLGARFc.358T>G (p.Leu120Val)
c.413T>G (p.Leu138Arg)
c.15T>G
n.556T>G
15g.89333397A>GCA492290085POLG,POLGARFc.358T>C (p.Leu120=)
c.413T>C (p.Leu138Pro)
c.15T>C
n.556T>C
15g.89333397A>TCA393772386POLG,POLGARFc.358T>A (p.Leu120Met)
c.413T>A (p.Leu138His)
c.15T>A
n.556T>A
15g.89333398G>ACA492290086POLG,POLGARFc.357C>T (p.Pro119=)
c.412C>T (p.Leu138Phe)
c.14C>T
n.555C>T
 ClinVar
15g.89333398G>CCA492290087POLG,POLGARFc.357C>G (p.Pro119=)
c.412C>G (p.Leu138Val)
c.14C>G
n.555C>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333398G=CA2194572375POLG,POLGARFc.357C= (p.Pro119=)
c.412C= (p.Leu138=)
c.14C=
n.555C=
15g.89333398G>TCA492290088POLG,POLGARFc.357C>A (p.Pro119=)
c.412C>A (p.Leu138Ile)
c.14C>A
n.555C>A
 gnomAD v4
15g.89333399G>ACA393772390POLG,POLGARFc.356C>T (p.Pro119Leu)
c.411C>T (p.Ala137=)
c.13C>T
n.554C>T
 gnomAD v4
15g.89333399G>CCA393772394POLG,POLGARFc.356C>G (p.Pro119Arg)
c.411C>G (p.Ala137=)
c.13C>G
n.554C>G
 gnomAD v4
15g.89333399G>TCA393772399POLG,POLGARFc.356C>A (p.Pro119His)
c.411C>A (p.Ala137=)
c.13C>A
n.554C>A
 gnomAD v4
15g.89333400G>ACA393772404POLG,POLGARFc.355C>T (p.Pro119Ser)
c.410C>T (p.Ala137Val)
c.12C>T
n.553C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333400G>CCA393772410POLG,POLGARFc.355C>G (p.Pro119Ala)
c.410C>G (p.Ala137Gly)
c.12C>G
n.553C>G
15g.89333400G=CA2194572381POLG,POLGARFc.355C= (p.Pro119=)
c.410C= (p.Ala137=)
c.12C=
n.553C=
15g.89333400G>TCA393772408POLG,POLGARFc.355C>A (p.Pro119Thr)
c.410C>A (p.Ala137Asp)
c.12C>A
n.553C>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333401C>ACA492290091POLG,POLGARFc.354G>T (p.Val118=)
c.409G>T (p.Ala137Ser)
c.11G>T
n.552G>T
 ClinVar gnomAD v4
15g.89333401C>GCA492290092POLG,POLGARFc.354G>C (p.Val118=)
c.409G>C (p.Ala137Pro)
c.11G>C
n.552G>C
 gnomAD v4
15g.89333401C>TCA492290093POLG,POLGARFc.354G>A (p.Val118=)
c.409G>A (p.Ala137Thr)
c.11G>A
n.552G>A
 gnomAD v4
15g.89333402A>CCA393772417POLG,POLGARFc.353T>G (p.Val118Gly)
c.408T>G (p.Arg136=)
c.10T>G
n.551T>G
15g.89333402A>GCA393772421POLG,POLGARFc.353T>C (p.Val118Ala)
c.408T>C (p.Arg136=)
c.10T>C
n.551T>C
 ClinVar
15g.89333402A>TCA393772422POLG,POLGARFc.353T>A (p.Val118Glu)
c.408T>A (p.Arg136=)
c.10T>A
n.551T>A
15g.89333402dupCA2630256936POLG,POLGARFc.353dup (p.Pro119AlafsTer?)
c.408dup (p.Ala137CysfsTer?)
c.10dup
n.551dup
 gnomAD v4
15g.89333403C>ACA393772423POLG,POLGARFc.352G>T (p.Val118Leu)
c.407G>T (p.Arg136Leu)
c.9G>T
n.550G>T
 ClinVar gnomAD v4
15g.89333403C=CA2194572384POLG,POLGARFc.352G= (p.Val118=)
c.407G= (p.Arg136=)
c.9G=
n.550G=
15g.89333403C>GCA393772426POLG,POLGARFc.352G>C (p.Val118Leu)
c.407G>C (p.Arg136Pro)
c.9G>C
n.550G>C
 gnomAD v4
15g.89333403C>TCA7725127POLG,POLGARFc.352G>A (p.Val118Met)
c.407G>A (p.Arg136His)
c.9G>A
n.550G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.89333404G>ACA492290097POLG,POLGARFc.351C>T (p.Ala117=)
c.406C>T (p.Arg136Cys)
c.8C>T
n.549C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333404G>CCA492290098POLG,POLGARFc.351C>G (p.Ala117=)
c.406C>G (p.Arg136Gly)
c.8C>G
n.549C>G
 gnomAD v4
15g.89333404G=CA2194572393POLG,POLGARFc.351C= (p.Ala117=)
c.406C= (p.Arg136=)
c.8C=
n.549C=
15g.89333404G>TCA492290099POLG,POLGARFc.351C>A (p.Ala117=)
c.406C>A (p.Arg136Ser)
c.8C>A
n.549C>A
 gnomAD v4
15g.89333405G>ACA393772433POLG,POLGARFc.350C>T (p.Ala117Val)
c.405C>T (p.Ser135=)
c.7C>T
n.548C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333405G>CCA393772436POLG,POLGARFc.350C>G (p.Ala117Gly)
c.405C>G (p.Ser135Arg)
c.7C>G
n.548C>G
15g.89333405G=CA2194572398POLG,POLGARFc.350C= (p.Ala117=)
c.405C= (p.Ser135=)
c.7C=
n.548C=
15g.89333405G>TCA393772442POLG,POLGARFc.350C>A (p.Ala117Asp)
c.405C>A (p.Ser135Arg)
c.7C>A
n.548C>A
 gnomAD v4
15g.89333406C>ACA393772448POLG,POLGARFc.349G>T (p.Ala117Ser)
c.404G>T (p.Ser135Ile)
c.6G>T
n.547G>T
 gnomAD v4
15g.89333406C>GCA393772450POLG,POLGARFc.349G>C (p.Ala117Pro)
c.404G>C (p.Ser135Thr)
c.6G>C
n.547G>C
15g.89333406C>TCA393772453POLG,POLGARFc.349G>A (p.Ala117Thr)
c.404G>A (p.Ser135Asn)
c.6G>A
n.547G>A
 gnomAD v4
15g.89333407T>ACA492290100POLG,POLGARFc.348A>T (p.Pro116=)
c.403A>T (p.Ser135Cys)
c.5A>T
n.546A>T
15g.89333407T>CCA492290102POLG,POLGARFc.348A>G (p.Pro116=)
c.403A>G (p.Ser135Gly)
c.5A>G
n.546A>G
15g.89333407T>GCA492290103POLG,POLGARFc.348A>C (p.Pro116=)
c.403A>C (p.Ser135Arg)
c.5A>C
n.546A>C
 gnomAD v4
15g.89333408G>ACA7725128POLG,POLGARFc.347C>T (p.Pro116Leu)
c.402C>T (p.Ala134=)
c.4C>T
n.545C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333408G>CCA10602276POLG,POLGARFc.347C>G (p.Pro116Arg)
c.402C>G (p.Ala134=)
c.4C>G
n.545C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333408G=CA2194572408POLG,POLGARFc.347C= (p.Pro116=)
c.402C= (p.Ala134=)
c.4C=
n.545C=
15g.89333408G>TCA393772461POLG,POLGARFc.347C>A (p.Pro116Gln)
c.402C>A (p.Ala134=)
c.4C>A
n.545C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333409G>ACA316879POLG,POLGARFc.346C>T (p.Pro116Ser)
c.401C>T (p.Ala134Val)
c.3C>T
n.544C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333409G>CCA393772472POLG,POLGARFc.346C>G (p.Pro116Ala)
c.401C>G (p.Ala134Gly)
c.3C>G
n.544C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333409G=CA2194572415POLG,POLGARFc.346C= (p.Pro116=)
c.401C= (p.Ala134=)
c.3C=
n.544C=
15g.89333409G>TCA393772480POLG,POLGARFc.346C>A (p.Pro116Thr)
c.401C>A (p.Ala134Asp)
c.3C>A
n.544C>A
 ClinVar dbSNP gnomAD v4
15g.89333410C>ACA393772482POLG,POLGARFc.345G>T (p.Gln115His)
c.400G>T (p.Ala134Ser)
c.2G>T
n.543G>T
 dbSNP
15g.89333410C>GCA393772485POLG,POLGARFc.345G>C (p.Gln115His)
c.400G>C (p.Ala134Pro)
c.2G>C
n.543G>C
15g.89333410C>TCA492290106POLG,POLGARFc.345G>A (p.Gln115=)
c.400G>A (p.Ala134Thr)
c.2G>A
n.543G>A
 gnomAD v4 COSMIC
15g.89333411T>ACA393772493POLG,POLGARFc.344A>T (p.Gln115Leu)
c.399A>T (p.Ala133=)
c.1A>T
n.542A>T
15g.89333411T>CCA393772492POLG,POLGARFc.344A>G (p.Gln115Arg)
c.399A>G (p.Ala133=)
c.1A>G
n.542A>G
15g.89333411T>GCA393772491POLG,POLGARFc.344A>C (p.Gln115Pro)
c.399A>C (p.Ala133=)
c.1A>C
n.542A>C
 dbSNP
15g.89333412G>ACA393772494POLG,POLGARFc.343C>T (p.Gln115Ter)
c.398C>T (p.Ala133Val)
n.541C>T
 gnomAD v4
15g.89333412G>CCA393772497POLG,POLGARFc.343C>G (p.Gln115Glu)
c.398C>G (p.Ala133Gly)
n.541C>G
15g.89333412G=CA2194572421POLG,POLGARFc.343C= (p.Gln115=)
c.398C= (p.Ala133=)
n.541C=
15g.89333412G>TCA274566051POLG,POLGARFc.343C>A (p.Gln115Lys)
c.398C>A (p.Ala133Glu)
n.541C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333413C>ACA492290112POLG,POLGARFc.342G>T (p.Gly114=)
c.397G>T (p.Ala133Ser)
n.540G>T
 ClinVar
15g.89333413C=CA2194572426POLG,POLGARFc.342G= (p.Gly114=)
c.397G= (p.Ala133=)
n.540G=
15g.89333413C>GCA492290113POLG,POLGARFc.342G>C (p.Gly114=)
c.397G>C (p.Ala133Pro)
n.540G>C
15g.89333413C>TCA492290114POLG,POLGARFc.342G>A (p.Gly114=)
c.397G>A (p.Ala133Thr)
n.540G>A
 dbSNP gnomAD v4
15g.89333417dupCA2630256937POLG,POLGARFc.342dup (p.Gln115AlafsTer?)
c.397dup (p.Ala133GlyfsTer?)
n.540dup
 gnomAD v4
15g.89333417delCA2630256938POLG,POLGARFc.342del (p.Gln115SerfsTer?)
c.397del (p.Ala133GlnfsTer?)
n.540del
 gnomAD v4
15g.89333414C>ACA393772504POLG,POLGARFc.341G>T (p.Gly114Val)
c.396G>T (p.Gly132=)
n.539G>T
15g.89333414C>GCA393772507POLG,POLGARFc.341G>C (p.Gly114Ala)
c.396G>C (p.Gly132=)
n.539G>C
15g.89333414C>TCA393772510POLG,POLGARFc.341G>A (p.Gly114Glu)
c.396G>A (p.Gly132=)
n.539G>A
 gnomAD v4
15g.89333415C>ACA393772525POLG,POLGARFc.340G>T (p.Gly114Trp)
c.395G>T (p.Gly132Val)
n.538G>T
15g.89333415C=CA2194572444POLG,POLGARFc.340G= (p.Gly114=)
c.395G= (p.Gly132=)
n.538G=
15g.89333415C>GCA393772516POLG,POLGARFc.340G>C (p.Gly114Arg)
c.395G>C (p.Gly132Ala)
n.538G>C
15g.89333415C>TCA7725129POLG,POLGARFc.340G>A (p.Gly114Arg)
c.395G>A (p.Gly132Glu)
n.538G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333416C>ACA393772532POLG,POLGARFc.339G>T (p.Trp113Cys)
c.394G>T (p.Gly132Trp)
n.537G>T
 ClinVar gnomAD v4
15g.89333416C>GCA393772535POLG,POLGARFc.339G>C (p.Trp113Cys)
c.394G>C (p.Gly132Arg)
n.537G>C
15g.89333416C>TCA393772542POLG,POLGARFc.339G>A (p.Trp113Ter)
c.394G>A (p.Gly132Arg)
n.537G>A
15g.89333417C>ACA393772546POLG,POLGARFc.338G>T (p.Trp113Leu)
c.393G>T (p.Leu131=)
n.536G>T
15g.89333417C>GCA393772553POLG,POLGARFc.338G>C (p.Trp113Ser)
c.393G>C (p.Leu131=)
n.536G>C
15g.89333417C>TCA393772557POLG,POLGARFc.338G>A (p.Trp113Ter)
c.393G>A (p.Leu131=)
n.536G>A
15g.89333418A=CA2194572460POLG,POLGARFc.337T= (p.Trp113=)
c.392T= (p.Leu131=)
n.535T=
15g.89333418A>CCA7725130POLG,POLGARFc.337T>G (p.Trp113Gly)
c.392T>G (p.Leu131Arg)
n.535T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333418A>GCA393772565POLG,POLGARFc.337T>C (p.Trp113Arg)
c.392T>C (p.Leu131Pro)
n.535T>C
15g.89333418A>TCA393772568POLG,POLGARFc.337T>A (p.Trp113Arg)
c.392T>A (p.Leu131Gln)
n.535T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333419G>ACA492290124POLG,POLGARFc.336C>T (p.Leu112=)
c.391C>T (p.Leu131=)
n.534C>T
15g.89333419G>CCA16607931POLG,POLGARFc.336C>G (p.Leu112=)
c.391C>G (p.Leu131Val)
n.534C>G
 ClinVar dbSNP
15g.89333419G=CA2194572468POLG,POLGARFc.336C= (p.Leu112=)
c.391C= (p.Leu131=)
n.534C=
15g.89333419G>TCA492290120POLG,POLGARFc.336C>A (p.Leu112=)
c.391C>A (p.Leu131Met)
n.534C>A
 gnomAD v4
15g.89333420A=CA2194572478POLG,POLGARFc.335T= (p.Leu112=)
c.390T= (p.Ala130=)
n.533T=
15g.89333420A>CCA393772574POLG,POLGARFc.335T>G (p.Leu112Arg)
c.390T>G (p.Ala130=)
n.533T>G
15g.89333420A>GCA7725131POLG,POLGARFc.335T>C (p.Leu112Pro)
c.390T>C (p.Ala130=)
n.533T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333420A>TCA393772582POLG,POLGARFc.335T>A (p.Leu112His)
c.390T>A (p.Ala130=)
n.533T>A
15g.89333421G>ACA393772587POLG,POLGARFc.334C>T (p.Leu112Phe)
c.389C>T (p.Ala130Val)
n.532C>T
 dbSNP
15g.89333421G>CCA7725132POLG,POLGARFc.334C>G (p.Leu112Val)
c.389C>G (p.Ala130Gly)
n.532C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333421G=CA2194572483POLG,POLGARFc.334C= (p.Leu112=)
c.389C= (p.Ala130=)
n.532C=
15g.89333421G>TCA393772591POLG,POLGARFc.334C>A (p.Leu112Ile)
c.389C>A (p.Ala130Asp)
n.532C>A
 gnomAD v4
15g.89333422C>ACA16614590POLG,POLGARFc.333G>T (p.Gly111=)
c.388G>T (p.Ala130Ser)
n.531G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333422C=CA2194572490POLG,POLGARFc.333G= (p.Gly111=)
c.388G= (p.Ala130=)
n.531G=
15g.89333422C>GCA492290127POLG,POLGARFc.333G>C (p.Gly111=)
c.388G>C (p.Ala130Pro)
n.531G>C
15g.89333422C>TCA492290129POLG,POLGARFc.333G>A (p.Gly111=)
c.388G>A (p.Ala130Thr)
n.531G>A
 gnomAD v4
15g.89333423C>ACA393772610POLG,POLGARFc.332G>T (p.Gly111Val)
c.387G>T (p.Arg129=)
n.530G>T
15g.89333423C>GCA393772604POLG,POLGARFc.332G>C (p.Gly111Ala)
c.387G>C (p.Arg129=)
n.530G>C
15g.89333423C>TCA393772606POLG,POLGARFc.332G>A (p.Gly111Glu)
c.387G>A (p.Arg129=)
n.530G>A
15g.89333424C>ACA393772618POLG,POLGARFc.331G>T (p.Gly111Trp)
c.386G>T (p.Arg129Leu)
n.529G>T
 gnomAD v4
15g.89333424C=CA2194572501POLG,POLGARFc.331G= (p.Gly111=)
c.386G= (p.Arg129=)
n.529G=
15g.89333424C>GCA7725133POLG,POLGARFc.331G>C (p.Gly111Arg)
c.386G>C (p.Arg129Pro)
n.529G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333424C>TCA393772630POLG,POLGARFc.331G>A (p.Gly111Arg)
c.386G>A (p.Arg129Gln)
n.529G>A
 gnomAD v4
15g.89333425delCA645574966POLG,POLGARFc.330del (p.His110GlnfsTer?)
c.385del (p.Arg129GlyfsTer?)
n.528del
 COSMIC
15g.89333425G>ACA274566083POLG,POLGARFc.330C>T (p.His110=)
c.385C>T (p.Arg129Trp)
n.528C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333425G>CCA393772654POLG,POLGARFc.330C>G (p.His110Gln)
c.385C>G (p.Arg129Gly)
n.528C>G
15g.89333425G=CA2194572511POLG,POLGARFc.330C= (p.His110=)
c.385C= (p.Arg129=)
n.528C=
15g.89333425G>TCA393772658POLG,POLGARFc.330C>A (p.His110Gln)
c.385C>A (p.Arg129=)
n.528C>A
15g.89333426T>ACA393772663POLG,POLGARFc.329A>T (p.His110Leu)
c.384A>T (p.Ala128=)
n.527A>T
15g.89333426T>CCA393772666POLG,POLGARFc.329A>G (p.His110Arg)
c.384A>G (p.Ala128=)
n.527A>G
15g.89333426T>GCA393772669POLG,POLGARFc.329A>C (p.His110Pro)
c.384A>C (p.Ala128=)
n.527A>C
 gnomAD v4
15g.89333427G>ACA316877POLG,POLGARFc.328C>T (p.His110Tyr)
c.383C>T (p.Ala128Val)
n.526C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333427G>CCA393772675POLG,POLGARFc.328C>G (p.His110Asp)
c.383C>G (p.Ala128Gly)
n.526C>G
15g.89333427G=CA2194572518POLG,POLGARFc.328C= (p.His110=)
c.383C= (p.Ala128=)
n.526C=
15g.89333427G>TCA393772676POLG,POLGARFc.328C>A (p.His110Asn)
c.383C>A (p.Ala128Glu)
n.526C>A
 gnomAD v4
15g.89333428C>ACA393772677POLG,POLGARFc.327G>T (p.Lys109Asn)
c.382G>T (p.Ala128Ser)
n.525G>T
 ClinVar dbSNP gnomAD v4
15g.89333428C=CA2194572522POLG,POLGARFc.327G= (p.Lys109=)
c.382G= (p.Ala128=)
n.525G=
15g.89333428C>GCA393772678POLG,POLGARFc.327G>C (p.Lys109Asn)
c.382G>C (p.Ala128Pro)
n.525G>C
15g.89333428C>TCA492290135POLG,POLGARFc.327G>A (p.Lys109=)
c.382G>A (p.Ala128Thr)
n.525G>A
 ClinVar
15g.89333429T>ACA393772682POLG,POLGARFc.326A>T (p.Lys109Met)
c.381A>T (p.Glu127Asp)
n.524A>T
15g.89333429T>CCA393772685POLG,POLGARFc.326A>G (p.Lys109Arg)
c.381A>G (p.Glu127=)
n.524A>G
 gnomAD v4
15g.89333429T>GCA393772687POLG,POLGARFc.326A>C (p.Lys109Thr)
c.381A>C (p.Glu127Asp)
n.524A>C
15g.89333430T>ACA393772703POLG,POLGARFc.325A>T (p.Lys109Ter)
c.380A>T (p.Glu127Val)
n.523A>T
15g.89333430T>CCA274566089POLG,POLGARFc.325A>G (p.Lys109Glu)
c.380A>G (p.Glu127Gly)
n.523A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333430T>GCA393772710POLG,POLGARFc.325A>C (p.Lys109Gln)
c.380A>C (p.Glu127Ala)
n.523A>C
15g.89333430T=CA2194572524POLG,POLGARFc.325A= (p.Lys109=)
c.380A= (p.Glu127=)
n.523A=
15g.89333431C>ACA393772723POLG,POLGARFc.324G>T (p.Gln108His)
c.379G>T (p.Glu127Ter)
n.522G>T
15g.89333431C>GCA393772727POLG,POLGARFc.324G>C (p.Gln108His)
c.379G>C (p.Glu127Gln)
n.522G>C
15g.89333431C>TCA492290140POLG,POLGARFc.324G>A (p.Gln108=)
c.379G>A (p.Glu127Lys)
n.522G>A
15g.89333432T>ACA393772732POLG,POLGARFc.323A>T (p.Gln108Leu)
c.378A>T (p.Ala126=)
n.521A>T
 gnomAD v4
15g.89333432T>CCA393772735POLG,POLGARFc.323A>G (p.Gln108Arg)
c.378A>G (p.Ala126=)
n.521A>G
15g.89333432T>GCA393772738POLG,POLGARFc.323A>C (p.Gln108Pro)
c.378A>C (p.Ala126=)
n.521A>C
15g.89333432_89333461delinsTGCAGGTGCTCGACGCTGCGGCGCACCGCGCA2194572525POLG,POLGARFc.294_323delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA (p.Ala98=)
c.349_378delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA (p.Arg117=)
n.492_521delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA
15g.89333433G>ACA274566097POLG,POLGARFc.322C>T (p.Gln108Ter)
c.377C>T (p.Ala126Val)
n.520C>T
 dbSNP
15g.89333433G>CCA393772757POLG,POLGARFc.322C>G (p.Gln108Glu)
c.377C>G (p.Ala126Gly)
n.520C>G
 ClinVar dbSNP gnomAD v4
15g.89333433G=CA2194572529POLG,POLGARFc.322C= (p.Gln108=)
c.377C= (p.Ala126=)
n.520C=
15g.89333433G>TCA393772753POLG,POLGARFc.322C>A (p.Gln108Lys)
c.377C>A (p.Ala126Glu)
n.520C>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333435_89333463delCA619857539POLG,POLGARFc.294_322del (p.Ala99GlufsTer?)
c.349_377del (p.Gly118SerfsTer?)
n.492_520del
 dbSNP gnomAD v2 gnomAD v4
15g.89333434C>ACA492290147POLG,POLGARFc.321G>T (p.Leu107=)
c.376G>T (p.Ala126Ser)
n.519G>T
15g.89333434C>GCA492290146POLG,POLGARFc.321G>C (p.Leu107=)
c.376G>C (p.Ala126Pro)
n.519G>C
15g.89333434C>TCA492290145POLG,POLGARFc.321G>A (p.Leu107=)
c.376G>A (p.Ala126Thr)
n.519G>A
15g.89333435A>CCA393772761POLG,POLGARFc.320T>G (p.Leu107Arg)
c.375T>G (p.Pro125=)
n.518T>G
15g.89333435A>GCA393772762POLG,POLGARFc.320T>C (p.Leu107Pro)
c.375T>C (p.Pro125=)
n.518T>C
15g.89333435A>TCA393772765POLG,POLGARFc.320T>A (p.Leu107Gln)
c.375T>A (p.Pro125=)
n.518T>A
15g.89333436G>ACA492290148POLG,POLGARFc.319C>T (p.Leu107=)
c.374C>T (p.Pro125Leu)
n.517C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333436G>CCA393772769POLG,POLGARFc.319C>G (p.Leu107Val)
c.374C>G (p.Pro125Arg)
n.517C>G
15g.89333436G=CA2194572537POLG,POLGARFc.319C= (p.Leu107=)
c.374C= (p.Pro125=)
n.517C=
15g.89333436G>TCA393772770POLG,POLGARFc.319C>A (p.Leu107Met)
c.374C>A (p.Pro125His)
n.517C>A
 gnomAD v4

Number of alleles fetched