Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89333335G>A | CA492290006 | POLG,POLGARF | c.420C>T (p.Arg140=) c.475C>T (p.Pro159Ser) c.21C>T (p.Arg7=) c.77C>T n.618C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333335G>C | CA492290007 | POLG,POLGARF | c.420C>G (p.Arg140=) c.475C>G (p.Pro159Ala) c.21C>G (p.Arg7=) c.77C>G n.618C>G | |
15 | g.89333335G= | CA2194572156 | POLG,POLGARF | c.420C= (p.Arg140=) c.475C= (p.Pro159=) c.21C= (p.Arg7=) c.77C= n.618C= | |
15 | g.89333335G>T | CA492290008 | POLG,POLGARF | c.420C>A (p.Arg140=) c.475C>A (p.Pro159Thr) c.21C>A (p.Arg7=) c.77C>A n.618C>A | gnomAD v4 |
15 | g.89333336C>A | CA7725116 | POLG,POLGARF | c.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 |
15 | g.89333336C= | CA2194572165 | POLG,POLGARF | c.419G= (p.Arg140=) c.474G= (p.Pro158=) c.20G= (p.Arg7=) c.76G= n.617G= | |
15 | g.89333336C>G | CA393771882 | POLG,POLGARF | c.419G>C (p.Arg140Pro) c.474G>C (p.Pro158=) c.20G>C (p.Arg7Pro) c.76G>C n.617G>C | gnomAD v4 |
15 | g.89333336C>T | CA7725115 | POLG,POLGARF | c.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 |
15 | g.89333337G>A | CA316881 | POLG,POLGARF | c.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 |
15 | g.89333337G>C | CA393771886 | POLG,POLGARF | c.418C>G (p.Arg140Gly) c.473C>G (p.Pro158Arg) c.19C>G (p.Arg7Gly) c.75C>G n.616C>G | |
15 | g.89333337G= | CA2194572177 | POLG,POLGARF | c.418C= (p.Arg140=) c.473C= (p.Pro158=) c.19C= (p.Arg7=) c.75C= n.616C= | |
15 | g.89333337G>T | CA274565964 | POLG,POLGARF | c.418C>A (p.Arg140Ser) c.473C>A (p.Pro158Gln) c.19C>A (p.Arg7Ser) c.75C>A n.616C>A | dbSNP gnomAD v4 |
15 | g.89333338G>A | CA492290009 | POLG,POLGARF | c.417C>T (p.Phe139=) c.472C>T (p.Pro158Ser) c.18C>T (p.Phe6=) c.74C>T n.615C>T | gnomAD v4 |
15 | g.89333338G>C | CA393771892 | POLG,POLGARF | c.417C>G (p.Phe139Leu) c.472C>G (p.Pro158Ala) c.18C>G (p.Phe6Leu) c.74C>G n.615C>G | |
15 | g.89333338G>T | CA393771897 | POLG,POLGARF | c.417C>A (p.Phe139Leu) c.472C>A (p.Pro158Thr) c.18C>A (p.Phe6Leu) c.74C>A n.615C>A | gnomAD v4 |
15 | g.89333339A>C | CA393771901 | POLG,POLGARF | c.416T>G (p.Phe139Cys) c.471T>G (p.Leu157=) c.17T>G (p.Phe6Cys) c.73T>G n.614T>G | ClinVar dbSNP |
15 | g.89333339A>G | CA393771905 | POLG,POLGARF | c.416T>C (p.Phe139Ser) c.471T>C (p.Leu157=) c.17T>C (p.Phe6Ser) c.73T>C n.614T>C | |
15 | g.89333339A>T | CA393771904 | POLG,POLGARF | c.416T>A (p.Phe139Tyr) c.471T>A (p.Leu157=) c.17T>A (p.Phe6Tyr) c.73T>A n.614T>A | |
15 | g.89333340A>C | CA393771906 | POLG,POLGARF | c.415T>G (p.Phe139Val) c.470T>G (p.Leu157Arg) c.16T>G (p.Phe6Val) c.72T>G n.613T>G | |
15 | g.89333340A>G | CA393771909 | POLG,POLGARF | c.415T>C (p.Phe139Leu) c.470T>C (p.Leu157Pro) c.16T>C (p.Phe6Leu) c.72T>C n.613T>C | |
15 | g.89333340A>T | CA393771907 | POLG,POLGARF | c.415T>A (p.Phe139Ile) c.470T>A (p.Leu157His) c.16T>A (p.Phe6Ile) c.72T>A n.613T>A | |
15 | g.89333341G>A | CA274565965 | POLG,POLGARF | c.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 |
15 | g.89333341G>C | CA393771911 | POLG,POLGARF | c.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 |
15 | g.89333341G= | CA2194572183 | POLG,POLGARF | c.414C= (p.His138=) c.469C= (p.Leu157=) c.15C= (p.His5=) c.71C= n.612C= | |
15 | g.89333341G>T | CA393771914 | POLG,POLGARF | c.414C>A (p.His138Gln) c.469C>A (p.Leu157Ile) c.15C>A (p.His5Gln) c.71C>A n.612C>A | gnomAD v4 |
15 | g.89333342T>A | CA393771918 | POLG,POLGARF | c.413A>T (p.His138Leu) c.468A>T (p.Ala156=) c.14A>T (p.His5Leu) c.70A>T n.611A>T | |
15 | g.89333342T>C | CA393771920 | POLG,POLGARF | c.413A>G (p.His138Arg) c.468A>G (p.Ala156=) c.14A>G (p.His5Arg) c.70A>G n.611A>G | |
15 | g.89333342T>G | CA7725117 | POLG,POLGARF | c.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 |
15 | g.89333342T= | CA2194572188 | POLG,POLGARF | c.413A= (p.His138=) c.468A= (p.Ala156=) c.14A= (p.His5=) c.70A= n.611A= | |
15 | g.89333343G>A | CA393771926 | POLG,POLGARF | c.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 |
15 | g.89333343G>C | CA393771938 | POLG,POLGARF | c.412C>G (p.His138Asp) c.467C>G (p.Ala156Gly) c.13C>G (p.His5Asp) c.69C>G n.610C>G | |
15 | g.89333343G= | CA2194572199 | POLG,POLGARF | c.412C= (p.His138=) c.467C= (p.Ala156=) c.13C= (p.His5=) c.69C= n.610C= | |
15 | g.89333343G>T | CA393771940 | POLG,POLGARF | c.412C>A (p.His138Asn) c.467C>A (p.Ala156Glu) c.13C>A (p.His5Asn) c.69C>A n.610C>A | gnomAD v4 |
15 | g.89333344C>A | CA393771945 | POLG,POLGARF | c.411G>T (p.Gln137His) c.466G>T (p.Ala156Ser) c.12G>T (p.Gln4His) c.68G>T n.609G>T | gnomAD v4 |
15 | g.89333344C= | CA2194572210 | POLG,POLGARF | c.411G= (p.Gln137=) c.466G= (p.Ala156=) c.12G= (p.Gln4=) c.68G= n.609G= | |
15 | g.89333344C>G | CA393771947 | POLG,POLGARF | c.411G>C (p.Gln137His) c.466G>C (p.Ala156Pro) c.12G>C (p.Gln4His) c.68G>C n.609G>C | gnomAD v4 |
15 | g.89333344C>T | CA492290012 | POLG,POLGARF | c.411G>A (p.Gln137=) c.466G>A (p.Ala156Thr) c.12G>A (p.Gln4=) c.68G>A n.609G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333345T>A | CA393771956 | POLG,POLGARF | c.410A>T (p.Gln137Leu) c.465A>T (p.Pro155=) c.11A>T (p.Gln4Leu) c.67A>T n.608A>T | |
15 | g.89333345T>C | CA393771954 | POLG,POLGARF | c.410A>G (p.Gln137Arg) c.465A>G (p.Pro155=) c.11A>G (p.Gln4Arg) c.67A>G n.608A>G | ClinVar gnomAD v4 |
15 | g.89333345T>G | CA393771949 | POLG,POLGARF | c.410A>C (p.Gln137Pro) c.465A>C (p.Pro155=) c.11A>C (p.Gln4Pro) c.67A>C n.608A>C | |
15 | g.89333346G>A | CA16042970 | POLG,POLGARF | c.409C>T (p.Gln137Ter) c.464C>T (p.Pro155Leu) c.10C>T (p.Gln4Ter) c.66C>T n.607C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333346G>C | CA393771959 | POLG,POLGARF | c.409C>G (p.Gln137Glu) c.464C>G (p.Pro155Arg) c.10C>G (p.Gln4Glu) c.66C>G n.607C>G | |
15 | g.89333346G= | CA2194572216 | POLG,POLGARF | c.409C= (p.Gln137=) c.464C= (p.Pro155=) c.10C= (p.Gln4=) c.66C= n.607C= | |
15 | g.89333346G>T | CA393771961 | POLG,POLGARF | c.409C>A (p.Gln137Lys) c.464C>A (p.Pro155Gln) c.10C>A (p.Gln4Lys) c.66C>A n.607C>A | gnomAD v4 |
15 | g.89333347G>A | CA492290015 | POLG,POLGARF | c.408C>T (p.Asp136=) c.463C>T (p.Pro155Ser) c.9C>T (p.Asp3=) c.65C>T n.606C>T | gnomAD v4 |
15 | g.89333347G>C | CA316796 | POLG,POLGARF | c.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 |
15 | g.89333347G= | CA2194572224 | POLG,POLGARF | c.408C= (p.Asp136=) c.463C= (p.Pro155=) c.9C= (p.Asp3=) c.65C= n.606C= | |
15 | g.89333347G>T | CA393771966 | POLG,POLGARF | c.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 |
15 | g.89333348T>A | CA393771971 | POLG,POLGARF | c.407A>T (p.Asp136Val) c.462A>T (p.Gly154=) c.8A>T (p.Asp3Val) c.64A>T n.605A>T | |
15 | g.89333348T>C | CA393771973 | POLG,POLGARF | c.407A>G (p.Asp136Gly) c.462A>G (p.Gly154=) c.8A>G (p.Asp3Gly) c.64A>G n.605A>G | gnomAD v4 |
15 | g.89333348T>G | CA393771976 | POLG,POLGARF | c.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 |
15 | g.89333348T= | CA2194572231 | POLG,POLGARF | c.407A= (p.Asp136=) c.462A= (p.Gly154=) c.8A= (p.Asp3=) c.64A= n.605A= | |
15 | g.89333349C>A | CA393771981 | POLG,POLGARF | c.406G>T (p.Asp136Tyr) c.461G>T (p.Gly154Val) c.7G>T (p.Asp3Tyr) c.63G>T n.604G>T | ClinVar gnomAD v4 |
15 | g.89333349C>G | CA393771987 | POLG,POLGARF | c.406G>C (p.Asp136His) c.461G>C (p.Gly154Ala) c.7G>C (p.Asp3His) c.63G>C n.604G>C | |
15 | g.89333349C>T | CA393771990 | POLG,POLGARF | c.406G>A (p.Asp136Asn) c.461G>A (p.Gly154Glu) c.7G>A (p.Asp3Asn) c.63G>A n.604G>A | gnomAD v4 |
15 | g.89333350dup | CA2843304772 | POLG,POLGARF | c.406dup (p.Asp136GlyfsTer?) c.461dup (p.Pro155ThrfsTer?) c.7dup (p.Asp3GlyfsTer?) c.63dup n.604dup | |
15 | g.89333350C>A | CA492290018 | POLG,POLGARF | c.405G>T (p.Leu135=) c.460G>T (p.Gly154Ter) c.6G>T (p.Leu2=) c.62G>T n.603G>T | gnomAD v4 |
15 | g.89333350C= | CA2194572237 | POLG,POLGARF | c.405G= (p.Leu135=) c.460G= (p.Gly154=) c.6G= (p.Leu2=) c.62G= n.603G= | |
15 | g.89333350C>G | CA492290019 | POLG,POLGARF | c.405G>C (p.Leu135=) c.460G>C (p.Gly154Arg) c.6G>C (p.Leu2=) c.62G>C n.603G>C | ClinVar |
15 | g.89333350C>T | CA492290016 | POLG,POLGARF | c.405G>A (p.Leu135=) c.460G>A (p.Gly154Arg) c.6G>A (p.Leu2=) c.62G>A n.603G>A | ClinVar dbSNP |
15 | g.89333351A>C | CA393771996 | POLG,POLGARF | c.404T>G (p.Leu135Arg) c.459T>G (p.Pro153=) c.5T>G (p.Leu2Arg) c.61T>G n.602T>G | |
15 | g.89333351A>G | CA393771999 | POLG,POLGARF | c.404T>C (p.Leu135Pro) c.459T>C (p.Pro153=) c.5T>C (p.Leu2Pro) c.61T>C n.602T>C | gnomAD v4 |
15 | g.89333351A>T | CA393771993 | POLG,POLGARF | c.404T>A (p.Leu135Gln) c.459T>A (p.Pro153=) c.5T>A (p.Leu2Gln) c.61T>A n.602T>A | |
15 | g.89333352G>A | CA274565970 | POLG,POLGARF | c.403C>T (p.Leu135=) c.458C>T (p.Pro153Leu) c.4C>T (p.Leu2=) c.60C>T n.601C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333352G>C | CA393772000 | POLG,POLGARF | c.403C>G (p.Leu135Val) c.458C>G (p.Pro153Arg) c.4C>G (p.Leu2Val) c.60C>G n.601C>G | |
15 | g.89333352G= | CA2194572239 | POLG,POLGARF | c.403C= (p.Leu135=) c.458C= (p.Pro153=) c.4C= (p.Leu2=) c.60C= n.601C= | |
15 | g.89333352G>T | CA393772001 | POLG,POLGARF | c.403C>A (p.Leu135Met) c.458C>A (p.Pro153His) c.4C>A (p.Leu2Met) c.60C>A n.601C>A | gnomAD v4 |
15 | g.89333353G>A | CA492290025 | POLG,POLGARF | c.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 |
15 | g.89333353G>C | CA7725118 | POLG,POLGARF | c.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 |
15 | g.89333353G= | CA2194572246 | POLG,POLGARF | c.402C= (p.Asn134=) c.457C= (p.Pro153=) c.3C= (p.Asn1=) c.59C= n.600C= | |
15 | g.89333353G>T | CA393772005 | POLG,POLGARF | c.402C>A (p.Asn134Lys) c.457C>A (p.Pro153Thr) c.3C>A (p.Asn1Lys) c.59C>A n.600C>A | gnomAD v4 |
15 | g.89333354T>A | CA393772008 | POLG,POLGARF | c.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 |
15 | g.89333354T>C | CA7725119 | POLG,POLGARF | c.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 |
15 | g.89333354T>G | CA393772013 | POLG,POLGARF | c.401A>C (p.Asn134Thr) c.456A>C (p.Gln152His) c.2A>C (p.Asn1Thr) c.58A>C n.599A>C | |
15 | g.89333354T= | CA2194572249 | POLG,POLGARF | c.401A= (p.Asn134=) c.456A= (p.Gln152=) c.2A= (p.Asn1=) c.58A= n.599A= | |
15 | g.89333355T>A | CA393772016 | POLG,POLGARF | c.400A>T (p.Asn134Tyr) c.455A>T (p.Gln152Leu) c.1A>T (p.Asn1Tyr) c.57A>T n.598A>T | |
15 | g.89333355T>C | CA393772019 | POLG,POLGARF | c.400A>G (p.Asn134Asp) c.455A>G (p.Gln152Arg) c.1A>G (p.Asn1Asp) c.57A>G n.598A>G | gnomAD v4 |
15 | g.89333355T>G | CA393772022 | POLG,POLGARF | c.400A>C (p.Asn134His) c.455A>C (p.Gln152Pro) c.1A>C (p.Asn1His) c.57A>C n.598A>C | |
15 | g.89333356G>A | CA492290028 | POLG,POLGARF | c.399C>T (p.Asp133=) c.454C>T (p.Gln152Ter) c.56C>T n.597C>T | |
15 | g.89333356G>C | CA393772025 | POLG,POLGARF | c.399C>G (p.Asp133Glu) c.454C>G (p.Gln152Glu) c.56C>G n.597C>G | |
15 | g.89333356G>T | CA393772028 | POLG,POLGARF | c.399C>A (p.Asp133Glu) c.454C>A (p.Gln152Lys) c.56C>A n.597C>A | gnomAD v4 |
15 | g.89333357del | CA2805168372 | POLG,POLGARF | c.398del (p.Asp133AlafsTer?) c.453del (p.Gln152AsnfsTer?) c.55del n.596del | |
15 | g.89333357T>A | CA393772037 | POLG,POLGARF | c.398A>T (p.Asp133Val) c.453A>T (p.Gly151=) c.55A>T n.596A>T | |
15 | g.89333357T>C | CA7725120 | POLG,POLGARF | c.398A>G (p.Asp133Gly) c.453A>G (p.Gly151=) c.55A>G n.596A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333357T>G | CA393772034 | POLG,POLGARF | c.398A>C (p.Asp133Ala) c.453A>C (p.Gly151=) c.55A>C n.596A>C | |
15 | g.89333357T= | CA2194572254 | POLG,POLGARF | c.398A= (p.Asp133=) c.453A= (p.Gly151=) c.55A= n.596A= | |
15 | g.89333358C>A | CA393772041 | POLG,POLGARF | c.397G>T (p.Asp133Tyr) c.452G>T (p.Gly151Val) c.54G>T n.595G>T | gnomAD v4 |
15 | g.89333358C>G | CA393772045 | POLG,POLGARF | c.397G>C (p.Asp133His) c.452G>C (p.Gly151Ala) c.54G>C n.595G>C | |
15 | g.89333358C>T | CA393772048 | POLG,POLGARF | c.397G>A (p.Asp133Asn) c.452G>A (p.Gly151Glu) c.54G>A n.595G>A | gnomAD v4 |
15 | g.89333360_89333361del | CA2630256933 | POLG,POLGARF | c.396_397del (p.Asp133GlnfsTer?) c.451_452del (p.Gly151ThrfsTer?) c.53_54del n.594_595del | gnomAD v4 |
15 | g.89333359C>A | CA492290032 | POLG,POLGARF | c.396G>T (p.Gly132=) c.451G>T (p.Gly151Ter) c.53G>T n.594G>T | gnomAD v4 |
15 | g.89333359C>G | CA492290033 | POLG,POLGARF | c.396G>C (p.Gly132=) c.451G>C (p.Gly151Arg) c.53G>C n.594G>C | |
15 | g.89333359C>T | CA492290034 | POLG,POLGARF | c.396G>A (p.Gly132=) c.451G>A (p.Gly151Arg) c.53G>A n.594G>A | ClinVar gnomAD v4 |
15 | g.89333360C>A | CA393772050 | POLG,POLGARF | c.395G>T (p.Gly132Val) c.450G>T (p.Arg150=) c.52G>T n.593G>T | gnomAD v4 |
15 | g.89333360C= | CA2194572262 | POLG,POLGARF | c.395G= (p.Gly132=) c.450G= (p.Arg150=) c.52G= n.593G= | |
15 | g.89333360C>G | CA393772053 | POLG,POLGARF | c.395G>C (p.Gly132Ala) c.450G>C (p.Arg150=) c.52G>C n.593G>C | |
15 | g.89333360C>T | CA16614589 | POLG,POLGARF | c.395G>A (p.Gly132Glu) c.450G>A (p.Arg150=) c.52G>A n.593G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333361C>A | CA393772059 | POLG,POLGARF | c.394G>T (p.Gly132Trp) c.449G>T (p.Arg150Leu) c.51G>T n.592G>T | gnomAD v4 |
15 | g.89333361C= | CA2194572266 | POLG,POLGARF | c.394G= (p.Gly132=) c.449G= (p.Arg150=) c.51G= n.592G= | |
15 | g.89333361C>G | CA7725121 | POLG,POLGARF | c.394G>C (p.Gly132Arg) c.449G>C (p.Arg150Pro) c.51G>C n.592G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333361C>T | CA393772065 | POLG,POLGARF | c.394G>A (p.Gly132Arg) c.449G>A (p.Arg150Gln) c.51G>A n.592G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333362G>A | CA7725122 | POLG,POLGARF | c.393C>T (p.Tyr131=) c.448C>T (p.Arg150Trp) c.50C>T n.591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333362G>C | CA393772072 | POLG,POLGARF | c.393C>G (p.Tyr131Ter) c.448C>G (p.Arg150Gly) c.50C>G n.591C>G | |
15 | g.89333362G= | CA2194572270 | POLG,POLGARF | c.393C= (p.Tyr131=) c.448C= (p.Arg150=) c.50C= n.591C= | |
15 | g.89333362G>T | CA393772075 | POLG,POLGARF | c.393C>A (p.Tyr131Ter) c.448C>A (p.Arg150=) c.50C>A n.591C>A | gnomAD v4 |
15 | g.89333363T>A | CA393772085 | POLG,POLGARF | c.392A>T (p.Tyr131Phe) c.447A>T (p.Leu149=) c.49A>T n.590A>T | |
15 | g.89333363T>C | CA274565991 | POLG,POLGARF | c.392A>G (p.Tyr131Cys) c.447A>G (p.Leu149=) c.49A>G n.590A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333363T>G | CA393772077 | POLG,POLGARF | c.392A>C (p.Tyr131Ser) c.447A>C (p.Leu149=) c.49A>C n.590A>C | |
15 | g.89333363T= | CA2194572277 | POLG,POLGARF | c.392A= (p.Tyr131=) c.447A= (p.Leu149=) c.49A= n.590A= | |
15 | g.89333364A= | CA2194572285 | POLG,POLGARF | c.391T= (p.Tyr131=) c.446T= (p.Leu149=) c.48T= n.589T= | |
15 | g.89333364A>C | CA393772089 | POLG,POLGARF | c.391T>G (p.Tyr131Asp) c.446T>G (p.Leu149Arg) c.48T>G n.589T>G | |
15 | g.89333364A>G | CA316634 | POLG,POLGARF | c.391T>C (p.Tyr131His) c.446T>C (p.Leu149Pro) c.48T>C n.589T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333364A>T | CA393772093 | POLG,POLGARF | c.391T>A (p.Tyr131Asn) c.446T>A (p.Leu149Gln) c.48T>A n.589T>A | |
15 | g.89333365G>A | CA492290040 | POLG,POLGARF | c.390C>T (p.Leu130=) c.445C>T (p.Leu149=) c.47C>T n.588C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333365G>C | CA492290041 | POLG,POLGARF | c.390C>G (p.Leu130=) c.445C>G (p.Leu149Val) c.47C>G n.588C>G | |
15 | g.89333365G= | CA2194572288 | POLG,POLGARF | c.390C= (p.Leu130=) c.445C= (p.Leu149=) c.47C= n.588C= | |
15 | g.89333365G>T | CA492290042 | POLG,POLGARF | c.390C>A (p.Leu130=) c.445C>A (p.Leu149Ile) c.47C>A n.588C>A | gnomAD v4 |
15 | g.89333366del | CA2630256934 | POLG,POLGARF | c.389del (p.Leu130ProfsTer?) c.444del (p.Leu149TyrfsTer?) c.46del n.587del | gnomAD v4 |
15 | g.89333366A>C | CA393772100 | POLG,POLGARF | c.389T>G (p.Leu130Arg) c.444T>G (p.Pro148=) c.46T>G n.587T>G | |
15 | g.89333366A>G | CA393772102 | POLG,POLGARF | c.389T>C (p.Leu130Pro) c.444T>C (p.Pro148=) c.46T>C n.587T>C | |
15 | g.89333366A>T | CA393772107 | POLG,POLGARF | c.389T>A (p.Leu130His) c.444T>A (p.Pro148=) c.46T>A n.587T>A | gnomAD v4 |
15 | g.89333367G>A | CA274565998 | POLG,POLGARF | c.388C>T (p.Leu130Phe) c.443C>T (p.Pro148Leu) c.45C>T n.586C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333367G>C | CA393772113 | POLG,POLGARF | c.388C>G (p.Leu130Val) c.443C>G (p.Pro148Arg) c.45C>G n.586C>G | gnomAD v4 |
15 | g.89333367G= | CA2194572298 | POLG,POLGARF | c.388C= (p.Leu130=) c.443C= (p.Pro148=) c.45C= n.586C= | |
15 | g.89333367G>T | CA393772116 | POLG,POLGARF | c.388C>A (p.Leu130Ile) c.443C>A (p.Pro148His) c.45C>A n.586C>A | ClinVar gnomAD v4 |
15 | g.89333368G>A | CA492290047 | POLG,POLGARF | c.387C>T (p.Pro129=) c.442C>T (p.Pro148Ser) c.44C>T n.585C>T | gnomAD v4 |
15 | g.89333368G>C | CA492290048 | POLG,POLGARF | c.387C>G (p.Pro129=) c.442C>G (p.Pro148Ala) c.44C>G n.585C>G | |
15 | g.89333368G>T | CA492290049 | POLG,POLGARF | c.387C>A (p.Pro129=) c.442C>A (p.Pro148Thr) c.44C>A n.585C>A | gnomAD v4 |
15 | g.89333368_89333375delinsGGGCGGCA | CA2194572300 | POLG,POLGARF | c.380_387delinsTGCCGCCC (p.Leu127=) c.435_442delinsTGCCGCCC (p.Pro145=) c.37_44delinsTGCCGCCC n.578_585delinsTGCCGCCC | |
15 | g.89333369G>A | CA393772120 | POLG,POLGARF | c.386C>T (p.Pro129Leu) c.441C>T (p.Ala147=) c.43C>T n.584C>T | ClinVar |
15 | g.89333369G>C | CA393772125 | POLG,POLGARF | c.386C>G (p.Pro129Arg) c.441C>G (p.Ala147=) c.43C>G n.584C>G | |
15 | g.89333369G>T | CA393772128 | POLG,POLGARF | c.386C>A (p.Pro129His) c.441C>A (p.Ala147=) c.43C>A n.584C>A | gnomAD v4 |
15 | g.89333373_89333379del | CA16620026 | POLG,POLGARF | c.380_386del (p.Leu127ProfsTer?) c.435_441del (p.Ala146LeufsTer?) c.37_43del n.578_584del | ClinVar dbSNP gnomAD v4 |
15 | g.89333370G>A | CA393772131 | POLG,POLGARF | c.385C>T (p.Pro129Ser) c.440C>T (p.Ala147Val) c.42C>T n.583C>T | gnomAD v4 |
15 | g.89333370G>C | CA7725123 | POLG,POLGARF | c.385C>G (p.Pro129Ala) c.440C>G (p.Ala147Gly) c.42C>G n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333370G= | CA2194572302 | POLG,POLGARF | c.385C= (p.Pro129=) c.440C= (p.Ala147=) c.42C= n.583C= | |
15 | g.89333370G>T | CA393772135 | POLG,POLGARF | c.385C>A (p.Pro129Thr) c.440C>A (p.Ala147Asp) c.42C>A n.583C>A | gnomAD v4 |
15 | g.89333371C>A | CA10602287 | POLG,POLGARF | c.384G>T (p.Pro128=) c.439G>T (p.Ala147Ser) c.41G>T n.582G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333371C= | CA2194572307 | POLG,POLGARF | c.384G= (p.Pro128=) c.439G= (p.Ala147=) c.41G= n.582G= | |
15 | g.89333371C>G | CA7725124 | POLG,POLGARF | c.384G>C (p.Pro128=) c.439G>C (p.Ala147Pro) c.41G>C n.582G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333371C>T | CA492290051 | POLG,POLGARF | c.384G>A (p.Pro128=) c.439G>A (p.Ala147Thr) c.41G>A n.582G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333372G>A | CA393772139 | POLG,POLGARF | c.383C>T (p.Pro128Leu) c.438C>T (p.Ala146=) c.40C>T n.581C>T | dbSNP gnomAD v4 |
15 | g.89333372G>C | CA393772141 | POLG,POLGARF | c.383C>G (p.Pro128Arg) c.438C>G (p.Ala146=) c.40C>G n.581C>G | |
15 | g.89333372G>T | CA393772143 | POLG,POLGARF | c.383C>A (p.Pro128Gln) c.438C>A (p.Ala146=) c.40C>A n.581C>A | gnomAD v4 |
15 | g.89333373G>A | CA393772146 | POLG,POLGARF | c.382C>T (p.Pro128Ser) c.437C>T (p.Ala146Val) c.39C>T n.580C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333373G>C | CA393772149 | POLG,POLGARF | c.382C>G (p.Pro128Ala) c.437C>G (p.Ala146Gly) c.39C>G n.580C>G | |
15 | g.89333373G= | CA2194572316 | POLG,POLGARF | c.382C= (p.Pro128=) c.437C= (p.Ala146=) c.39C= n.580C= | |
15 | g.89333373G>T | CA393772152 | POLG,POLGARF | c.382C>A (p.Pro128Thr) c.437C>A (p.Ala146Asp) c.39C>A n.580C>A | gnomAD v4 |
15 | g.89333375_89333383dup | CA972593940 | POLG,POLGARF | c.374_382dup (p.Leu127_Pro128insLeuArgLeu) c.429_437dup (p.Ala146_Ala147insAlaProAla) c.31_39dup n.572_580dup | gnomAD v3 gnomAD v4 |
15 | g.89333374C>A | CA16607929 | POLG,POLGARF | c.381G>T (p.Leu127=) c.436G>T (p.Ala146Ser) c.38G>T n.579G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333374C= | CA2194572319 | POLG,POLGARF | c.381G= (p.Leu127=) c.436G= (p.Ala146=) c.38G= n.579G= | |
15 | g.89333374C>G | CA492290054 | POLG,POLGARF | c.381G>C (p.Leu127=) c.436G>C (p.Ala146Pro) c.38G>C n.579G>C | |
15 | g.89333374C>T | CA492290053 | POLG,POLGARF | c.381G>A (p.Leu127=) c.436G>A (p.Ala146Thr) c.38G>A n.579G>A | ClinVar gnomAD v4 |
15 | g.89333375A>C | CA393772158 | POLG,POLGARF | c.380T>G (p.Leu127Arg) c.435T>G (p.Pro145=) c.37T>G n.578T>G | |
15 | g.89333375A>G | CA393772161 | POLG,POLGARF | c.380T>C (p.Leu127Pro) c.435T>C (p.Pro145=) c.37T>C n.578T>C | gnomAD v4 |
15 | g.89333375A>T | CA393772163 | POLG,POLGARF | c.380T>A (p.Leu127Gln) c.435T>A (p.Pro145=) c.37T>A n.578T>A | |
15 | g.89333376G>A | CA492290055 | POLG,POLGARF | c.379C>T (p.Leu127=) c.434C>T (p.Pro145Leu) c.36C>T n.577C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333376G>C | CA393772167 | POLG,POLGARF | c.379C>G (p.Leu127Val) c.434C>G (p.Pro145Arg) c.36C>G n.577C>G | |
15 | g.89333376G= | CA2194572326 | POLG,POLGARF | c.379C= (p.Leu127=) c.434C= (p.Pro145=) c.36C= n.577C= | |
15 | g.89333376G>T | CA7725125 | POLG,POLGARF | c.379C>A (p.Leu127Met) c.434C>A (p.Pro145His) c.36C>A n.577C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333377G>A | CA492290056 | POLG,POLGARF | c.378C>T (p.Arg126=) c.433C>T (p.Pro145Ser) c.35C>T n.576C>T | gnomAD v4 |
15 | g.89333377G>C | CA492290058 | POLG,POLGARF | c.378C>G (p.Arg126=) c.433C>G (p.Pro145Ala) c.35C>G n.576C>G | ClinVar dbSNP |
15 | g.89333377G= | CA2194572328 | POLG,POLGARF | c.378C= (p.Arg126=) c.433C= (p.Pro145=) c.35C= n.576C= | |
15 | g.89333377G>T | CA7725126 | POLG,POLGARF | c.378C>A (p.Arg126=) c.433C>A (p.Pro145Thr) c.35C>A n.576C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333378C>A | CA274566027 | POLG,POLGARF | c.377G>T (p.Arg126Leu) c.432G>T (p.Ala144=) c.34G>T n.575G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333378C= | CA2194572333 | POLG,POLGARF | c.377G= (p.Arg126=) c.432G= (p.Ala144=) c.34G= n.575G= | |
15 | g.89333378C>G | CA393772182 | POLG,POLGARF | c.377G>C (p.Arg126Pro) c.432G>C (p.Ala144=) c.34G>C n.575G>C | |
15 | g.89333378C>T | CA393772179 | POLG,POLGARF | c.377G>A (p.Arg126His) c.432G>A (p.Ala144=) c.34G>A n.575G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>A | CA274566028 | POLG,POLGARF | c.376C>T (p.Arg126Cys) c.431C>T (p.Ala144Val) c.33C>T n.574C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>C | CA393772188 | POLG,POLGARF | c.376C>G (p.Arg126Gly) c.431C>G (p.Ala144Gly) c.33C>G n.574C>G | |
15 | g.89333379G= | CA2194572337 | POLG,POLGARF | c.376C= (p.Arg126=) c.431C= (p.Ala144=) c.33C= n.574C= | |
15 | g.89333379G>T | CA393772192 | POLG,POLGARF | c.376C>A (p.Arg126Ser) c.431C>A (p.Ala144Glu) c.33C>A n.574C>A | gnomAD v4 |
15 | g.89333380C>A | CA492290060 | POLG,POLGARF | c.375G>T (p.Leu125=) c.430G>T (p.Ala144Ser) c.32G>T n.573G>T | gnomAD v4 |
15 | g.89333380C>G | CA492290062 | POLG,POLGARF | c.375G>C (p.Leu125=) c.430G>C (p.Ala144Pro) c.32G>C n.573G>C | |
15 | g.89333380C>T | CA492290064 | POLG,POLGARF | c.375G>A (p.Leu125=) c.430G>A (p.Ala144Thr) c.32G>A n.573G>A | |
15 | g.89333381A>C | CA393772198 | POLG,POLGARF | c.374T>G (p.Leu125Arg) c.429T>G (p.Ala143=) c.31T>G n.572T>G | gnomAD v4 |
15 | g.89333381A>G | CA393772201 | POLG,POLGARF | c.374T>C (p.Leu125Pro) c.429T>C (p.Ala143=) c.31T>C n.572T>C | |
15 | g.89333381A>T | CA393772203 | POLG,POLGARF | c.374T>A (p.Leu125Gln) c.429T>A (p.Ala143=) c.31T>A n.572T>A | |
15 | g.89333382G>A | CA492290066 | POLG,POLGARF | c.373C>T (p.Leu125=) c.428C>T (p.Ala143Val) c.30C>T n.571C>T | gnomAD v4 |
15 | g.89333382G>C | CA393772214 | POLG,POLGARF | c.373C>G (p.Leu125Val) c.428C>G (p.Ala143Gly) c.30C>G n.571C>G | ClinVar gnomAD v4 |
15 | g.89333382G>T | CA393772216 | POLG,POLGARF | c.373C>A (p.Leu125Met) c.428C>A (p.Ala143Asp) c.30C>A n.571C>A | gnomAD v4 COSMIC |
15 | g.89333383C>A | CA393772222 | POLG,POLGARF | c.372G>T (p.Glu124Asp) c.427G>T (p.Ala143Ser) c.29G>T n.570G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333383C= | CA2194572339 | POLG,POLGARF | c.372G= (p.Glu124=) c.427G= (p.Ala143=) c.29G= n.570G= | |
15 | g.89333383C>G | CA274566030 | POLG,POLGARF | c.372G>C (p.Glu124Asp) c.427G>C (p.Ala143Pro) c.29G>C n.570G>C | dbSNP |
15 | g.89333383C>T | CA492290068 | POLG,POLGARF | c.372G>A (p.Glu124=) c.427G>A (p.Ala143Thr) c.29G>A n.570G>A | |
15 | g.89333384T>A | CA393772231 | POLG,POLGARF | c.371A>T (p.Glu124Val) c.426A>T (p.Gly142=) c.28A>T n.569A>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333384T>C | CA393772237 | POLG,POLGARF | c.371A>G (p.Glu124Gly) c.426A>G (p.Gly142=) c.28A>G n.569A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333384T>G | CA393772247 | POLG,POLGARF | c.371A>C (p.Glu124Ala) c.426A>C (p.Gly142=) c.28A>C n.569A>C | |
15 | g.89333384T= | CA2194572342 | POLG,POLGARF | c.371A= (p.Glu124=) c.426A= (p.Gly142=) c.28A= n.569A= | |
15 | g.89333385C>A | CA393772251 | POLG,POLGARF | c.370G>T (p.Glu124Ter) c.425G>T (p.Gly142Val) c.27G>T n.568G>T | gnomAD v4 |
15 | g.89333385C>G | CA393772259 | POLG,POLGARF | c.370G>C (p.Glu124Gln) c.425G>C (p.Gly142Ala) c.27G>C n.568G>C | |
15 | g.89333385C>T | CA393772255 | POLG,POLGARF | c.370G>A (p.Glu124Lys) c.425G>A (p.Gly142Glu) c.27G>A n.568G>A | gnomAD v4 |
15 | g.89333386C>A | CA492290070 | POLG,POLGARF | c.369G>T (p.Val123=) c.424G>T (p.Gly142Ter) c.26G>T n.567G>T | |
15 | g.89333386C>G | CA492290071 | POLG,POLGARF | c.369G>C (p.Val123=) c.424G>C (p.Gly142Arg) c.26G>C n.567G>C | |
15 | g.89333386C>T | CA492290072 | POLG,POLGARF | c.369G>A (p.Val123=) c.424G>A (p.Gly142Arg) c.26G>A n.567G>A | |
15 | g.89333387A>C | CA393772269 | POLG,POLGARF | c.368T>G (p.Val123Gly) c.423T>G (p.Arg141=) c.25T>G n.566T>G | ClinVar |
15 | g.89333387A>G | CA393772273 | POLG,POLGARF | c.368T>C (p.Val123Ala) c.423T>C (p.Arg141=) c.25T>C n.566T>C | |
15 | g.89333387A>T | CA393772277 | POLG,POLGARF | c.368T>A (p.Val123Glu) c.423T>A (p.Arg141=) c.25T>A n.566T>A | |
15 | g.89333388C>A | CA393772284 | POLG,POLGARF | c.367G>T (p.Val123Leu) c.422G>T (p.Arg141Leu) c.24G>T n.565G>T | gnomAD v4 |
15 | g.89333388C= | CA2194572345 | POLG,POLGARF | c.367G= (p.Val123=) c.422G= (p.Arg141=) c.24G= n.565G= | |
15 | g.89333388C>G | CA393772286 | POLG,POLGARF | c.367G>C (p.Val123Leu) c.422G>C (p.Arg141Pro) c.24G>C n.565G>C | ClinVar dbSNP gnomAD v4 |
15 | g.89333388C>T | CA393772288 | POLG,POLGARF | c.367G>A (p.Val123Met) c.422G>A (p.Arg141His) c.24G>A n.565G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333389G>A | CA492290076 | POLG,POLGARF | c.366C>T (p.Asp122=) c.421C>T (p.Arg141Cys) c.23C>T n.564C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333389G>C | CA393772291 | POLG,POLGARF | c.366C>G (p.Asp122Glu) c.421C>G (p.Arg141Gly) c.23C>G n.564C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333389G= | CA2194572349 | POLG,POLGARF | c.366C= (p.Asp122=) c.421C= (p.Arg141=) c.23C= n.564C= | |
15 | g.89333389G>T | CA393772295 | POLG,POLGARF | c.366C>A (p.Asp122Glu) c.421C>A (p.Arg141Ser) c.23C>A n.564C>A | gnomAD v4 |
15 | g.89333390T>A | CA393772302 | POLG,POLGARF | c.365A>T (p.Asp122Val) c.420A>T (p.Arg140=) c.22A>T n.563A>T | |
15 | g.89333390T>C | CA393772306 | POLG,POLGARF | c.365A>G (p.Asp122Gly) c.420A>G (p.Arg140=) c.22A>G n.563A>G | |
15 | g.89333390T>G | CA393772307 | POLG,POLGARF | c.365A>C (p.Asp122Ala) c.420A>C (p.Arg140=) c.22A>C n.563A>C | |
15 | g.89333391C>A | CA393772315 | POLG,POLGARF | c.364G>T (p.Asp122Tyr) c.419G>T (p.Arg140Leu) c.21G>T n.562G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333391C= | CA2194572353 | POLG,POLGARF | c.364G= (p.Asp122=) c.419G= (p.Arg140=) c.21G= n.562G= | |
15 | g.89333391C>G | CA393772318 | POLG,POLGARF | c.364G>C (p.Asp122His) c.419G>C (p.Arg140Pro) c.21G>C n.562G>C | |
15 | g.89333391C>T | CA393772312 | POLG,POLGARF | c.364G>A (p.Asp122Asn) c.419G>A (p.Arg140Gln) c.21G>A n.562G>A | dbSNP gnomAD v4 |
15 | g.89333392G>A | CA492290081 | POLG,POLGARF | c.363C>T (p.Pro121=) c.418C>T (p.Arg140Ter) c.20C>T n.561C>T | dbSNP gnomAD v4 |
15 | g.89333392G>C | CA492290082 | POLG,POLGARF | c.363C>G (p.Pro121=) c.418C>G (p.Arg140Gly) c.20C>G n.561C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333392G= | CA2194572359 | POLG,POLGARF | c.363C= (p.Pro121=) c.418C= (p.Arg140=) c.20C= n.561C= | |
15 | g.89333392G>T | CA492290080 | POLG,POLGARF | c.363C>A (p.Pro121=) c.418C>A (p.Arg140=) c.20C>A n.561C>A | gnomAD v4 |
15 | g.89333394dup | CA2843304773 | POLG,POLGARF | c.363dup (p.Asp122ArgfsTer?) c.418dup (p.Arg140ProfsTer?) c.20dup n.561dup | |
15 | g.89333397_89333402del | CA2630256935 | POLG,POLGARF | c.358_363del (p.Leu120_Pro121del) c.413_418del (p.Leu138_Ala139del) c.15_20del n.556_561del | gnomAD v4 |
15 | g.89333393G>A | CA393772326 | POLG,POLGARF | c.362C>T (p.Pro121Leu) c.417C>T (p.Ala139=) c.19C>T n.560C>T | gnomAD v4 |
15 | g.89333393G>C | CA393772322 | POLG,POLGARF | c.362C>G (p.Pro121Arg) c.417C>G (p.Ala139=) c.19C>G n.560C>G | |
15 | g.89333393G>T | CA393772324 | POLG,POLGARF | c.362C>A (p.Pro121His) c.417C>A (p.Ala139=) c.19C>A n.560C>A | gnomAD v4 |
15 | g.89333394G>A | CA393772336 | POLG,POLGARF | c.361C>T (p.Pro121Ser) c.416C>T (p.Ala139Val) c.18C>T n.559C>T | gnomAD v4 |
15 | g.89333394G>C | CA393772339 | POLG,POLGARF | c.361C>G (p.Pro121Ala) c.416C>G (p.Ala139Gly) c.18C>G n.559C>G | |
15 | g.89333394G>T | CA393772342 | POLG,POLGARF | c.361C>A (p.Pro121Thr) c.416C>A (p.Ala139Asp) c.18C>A n.559C>A | gnomAD v4 |
15 | g.89333395C>A | CA10606097 | POLG,POLGARF | c.360G>T (p.Leu120Phe) c.415G>T (p.Ala139Ser) c.17G>T n.558G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333395C= | CA2194572370 | POLG,POLGARF | c.360G= (p.Leu120=) c.415G= (p.Ala139=) c.17G= n.558G= | |
15 | g.89333395C>G | CA393772348 | POLG,POLGARF | c.360G>C (p.Leu120Phe) c.415G>C (p.Ala139Pro) c.17G>C n.558G>C | ClinVar gnomAD v4 |
15 | g.89333395C>T | CA492290083 | POLG,POLGARF | c.360G>A (p.Leu120=) c.415G>A (p.Ala139Thr) c.17G>A n.558G>A | |
15 | g.89333396A>C | CA393772374 | POLG,POLGARF | c.359T>G (p.Leu120Trp) c.414T>G (p.Leu138=) c.16T>G n.557T>G | |
15 | g.89333396A>G | CA393772366 | POLG,POLGARF | c.359T>C (p.Leu120Ser) c.414T>C (p.Leu138=) c.16T>C n.557T>C | |
15 | g.89333396A>T | CA393772369 | POLG,POLGARF | c.359T>A (p.Leu120Ter) c.414T>A (p.Leu138=) c.16T>A n.557T>A | |
15 | g.89333397A>C | CA393772382 | POLG,POLGARF | c.358T>G (p.Leu120Val) c.413T>G (p.Leu138Arg) c.15T>G n.556T>G | |
15 | g.89333397A>G | CA492290085 | POLG,POLGARF | c.358T>C (p.Leu120=) c.413T>C (p.Leu138Pro) c.15T>C n.556T>C | |
15 | g.89333397A>T | CA393772386 | POLG,POLGARF | c.358T>A (p.Leu120Met) c.413T>A (p.Leu138His) c.15T>A n.556T>A | |
15 | g.89333398G>A | CA492290086 | POLG,POLGARF | c.357C>T (p.Pro119=) c.412C>T (p.Leu138Phe) c.14C>T n.555C>T | ClinVar |
15 | g.89333398G>C | CA492290087 | POLG,POLGARF | c.357C>G (p.Pro119=) c.412C>G (p.Leu138Val) c.14C>G n.555C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333398G= | CA2194572375 | POLG,POLGARF | c.357C= (p.Pro119=) c.412C= (p.Leu138=) c.14C= n.555C= | |
15 | g.89333398G>T | CA492290088 | POLG,POLGARF | c.357C>A (p.Pro119=) c.412C>A (p.Leu138Ile) c.14C>A n.555C>A | gnomAD v4 |
15 | g.89333399G>A | CA393772390 | POLG,POLGARF | c.356C>T (p.Pro119Leu) c.411C>T (p.Ala137=) c.13C>T n.554C>T | gnomAD v4 |
15 | g.89333399G>C | CA393772394 | POLG,POLGARF | c.356C>G (p.Pro119Arg) c.411C>G (p.Ala137=) c.13C>G n.554C>G | gnomAD v4 |
15 | g.89333399G>T | CA393772399 | POLG,POLGARF | c.356C>A (p.Pro119His) c.411C>A (p.Ala137=) c.13C>A n.554C>A | gnomAD v4 |
15 | g.89333400G>A | CA393772404 | POLG,POLGARF | c.355C>T (p.Pro119Ser) c.410C>T (p.Ala137Val) c.12C>T n.553C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333400G>C | CA393772410 | POLG,POLGARF | c.355C>G (p.Pro119Ala) c.410C>G (p.Ala137Gly) c.12C>G n.553C>G | |
15 | g.89333400G= | CA2194572381 | POLG,POLGARF | c.355C= (p.Pro119=) c.410C= (p.Ala137=) c.12C= n.553C= | |
15 | g.89333400G>T | CA393772408 | POLG,POLGARF | c.355C>A (p.Pro119Thr) c.410C>A (p.Ala137Asp) c.12C>A n.553C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333401C>A | CA492290091 | POLG,POLGARF | c.354G>T (p.Val118=) c.409G>T (p.Ala137Ser) c.11G>T n.552G>T | ClinVar gnomAD v4 |
15 | g.89333401C>G | CA492290092 | POLG,POLGARF | c.354G>C (p.Val118=) c.409G>C (p.Ala137Pro) c.11G>C n.552G>C | gnomAD v4 |
15 | g.89333401C>T | CA492290093 | POLG,POLGARF | c.354G>A (p.Val118=) c.409G>A (p.Ala137Thr) c.11G>A n.552G>A | gnomAD v4 |
15 | g.89333402A>C | CA393772417 | POLG,POLGARF | c.353T>G (p.Val118Gly) c.408T>G (p.Arg136=) c.10T>G n.551T>G | |
15 | g.89333402A>G | CA393772421 | POLG,POLGARF | c.353T>C (p.Val118Ala) c.408T>C (p.Arg136=) c.10T>C n.551T>C | ClinVar |
15 | g.89333402A>T | CA393772422 | POLG,POLGARF | c.353T>A (p.Val118Glu) c.408T>A (p.Arg136=) c.10T>A n.551T>A | |
15 | g.89333402dup | CA2630256936 | POLG,POLGARF | c.353dup (p.Pro119AlafsTer?) c.408dup (p.Ala137CysfsTer?) c.10dup n.551dup | gnomAD v4 |
15 | g.89333403C>A | CA393772423 | POLG,POLGARF | c.352G>T (p.Val118Leu) c.407G>T (p.Arg136Leu) c.9G>T n.550G>T | ClinVar gnomAD v4 |
15 | g.89333403C= | CA2194572384 | POLG,POLGARF | c.352G= (p.Val118=) c.407G= (p.Arg136=) c.9G= n.550G= | |
15 | g.89333403C>G | CA393772426 | POLG,POLGARF | c.352G>C (p.Val118Leu) c.407G>C (p.Arg136Pro) c.9G>C n.550G>C | gnomAD v4 |
15 | g.89333403C>T | CA7725127 | POLG,POLGARF | c.352G>A (p.Val118Met) c.407G>A (p.Arg136His) c.9G>A n.550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.89333404G>A | CA492290097 | POLG,POLGARF | c.351C>T (p.Ala117=) c.406C>T (p.Arg136Cys) c.8C>T n.549C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333404G>C | CA492290098 | POLG,POLGARF | c.351C>G (p.Ala117=) c.406C>G (p.Arg136Gly) c.8C>G n.549C>G | gnomAD v4 |
15 | g.89333404G= | CA2194572393 | POLG,POLGARF | c.351C= (p.Ala117=) c.406C= (p.Arg136=) c.8C= n.549C= | |
15 | g.89333404G>T | CA492290099 | POLG,POLGARF | c.351C>A (p.Ala117=) c.406C>A (p.Arg136Ser) c.8C>A n.549C>A | gnomAD v4 |
15 | g.89333405G>A | CA393772433 | POLG,POLGARF | c.350C>T (p.Ala117Val) c.405C>T (p.Ser135=) c.7C>T n.548C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333405G>C | CA393772436 | POLG,POLGARF | c.350C>G (p.Ala117Gly) c.405C>G (p.Ser135Arg) c.7C>G n.548C>G | |
15 | g.89333405G= | CA2194572398 | POLG,POLGARF | c.350C= (p.Ala117=) c.405C= (p.Ser135=) c.7C= n.548C= | |
15 | g.89333405G>T | CA393772442 | POLG,POLGARF | c.350C>A (p.Ala117Asp) c.405C>A (p.Ser135Arg) c.7C>A n.548C>A | gnomAD v4 |
15 | g.89333406C>A | CA393772448 | POLG,POLGARF | c.349G>T (p.Ala117Ser) c.404G>T (p.Ser135Ile) c.6G>T n.547G>T | gnomAD v4 |
15 | g.89333406C>G | CA393772450 | POLG,POLGARF | c.349G>C (p.Ala117Pro) c.404G>C (p.Ser135Thr) c.6G>C n.547G>C | |
15 | g.89333406C>T | CA393772453 | POLG,POLGARF | c.349G>A (p.Ala117Thr) c.404G>A (p.Ser135Asn) c.6G>A n.547G>A | gnomAD v4 |
15 | g.89333407T>A | CA492290100 | POLG,POLGARF | c.348A>T (p.Pro116=) c.403A>T (p.Ser135Cys) c.5A>T n.546A>T | |
15 | g.89333407T>C | CA492290102 | POLG,POLGARF | c.348A>G (p.Pro116=) c.403A>G (p.Ser135Gly) c.5A>G n.546A>G | |
15 | g.89333407T>G | CA492290103 | POLG,POLGARF | c.348A>C (p.Pro116=) c.403A>C (p.Ser135Arg) c.5A>C n.546A>C | gnomAD v4 |
15 | g.89333408G>A | CA7725128 | POLG,POLGARF | c.347C>T (p.Pro116Leu) c.402C>T (p.Ala134=) c.4C>T n.545C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333408G>C | CA10602276 | POLG,POLGARF | c.347C>G (p.Pro116Arg) c.402C>G (p.Ala134=) c.4C>G n.545C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333408G= | CA2194572408 | POLG,POLGARF | c.347C= (p.Pro116=) c.402C= (p.Ala134=) c.4C= n.545C= | |
15 | g.89333408G>T | CA393772461 | POLG,POLGARF | c.347C>A (p.Pro116Gln) c.402C>A (p.Ala134=) c.4C>A n.545C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409del | CA2843304774 | POLG,POLGARF | c.347del (p.Pro116GlnfsTer?) c.402del (p.Ser135AlafsTer?) c.4del n.545del | |
15 | g.89333409G>A | CA316879 | POLG,POLGARF | c.346C>T (p.Pro116Ser) c.401C>T (p.Ala134Val) c.3C>T n.544C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409G>C | CA393772472 | POLG,POLGARF | c.346C>G (p.Pro116Ala) c.401C>G (p.Ala134Gly) c.3C>G n.544C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409G= | CA2194572415 | POLG,POLGARF | c.346C= (p.Pro116=) c.401C= (p.Ala134=) c.3C= n.544C= | |
15 | g.89333409G>T | CA393772480 | POLG,POLGARF | c.346C>A (p.Pro116Thr) c.401C>A (p.Ala134Asp) c.3C>A n.544C>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333410C>A | CA393772482 | POLG,POLGARF | c.345G>T (p.Gln115His) c.400G>T (p.Ala134Ser) c.2G>T n.543G>T | dbSNP |
15 | g.89333410C>G | CA393772485 | POLG,POLGARF | c.345G>C (p.Gln115His) c.400G>C (p.Ala134Pro) c.2G>C n.543G>C | |
15 | g.89333410C>T | CA492290106 | POLG,POLGARF | c.345G>A (p.Gln115=) c.400G>A (p.Ala134Thr) c.2G>A n.543G>A | gnomAD v4 COSMIC |
15 | g.89333411T>A | CA393772493 | POLG,POLGARF | c.344A>T (p.Gln115Leu) c.399A>T (p.Ala133=) c.1A>T n.542A>T | |
15 | g.89333411T>C | CA393772492 | POLG,POLGARF | c.344A>G (p.Gln115Arg) c.399A>G (p.Ala133=) c.1A>G n.542A>G | |
15 | g.89333411T>G | CA393772491 | POLG,POLGARF | c.344A>C (p.Gln115Pro) c.399A>C (p.Ala133=) c.1A>C n.542A>C | dbSNP |
15 | g.89333412del | CA2839797648 | POLG,POLGARF | c.343del (p.Gln115SerfsTer?) c.398del (p.Ala133GlufsTer?) n.541del | |
15 | g.89333412G>A | CA393772494 | POLG,POLGARF | c.343C>T (p.Gln115Ter) c.398C>T (p.Ala133Val) n.541C>T | gnomAD v4 |
15 | g.89333412G>C | CA393772497 | POLG,POLGARF | c.343C>G (p.Gln115Glu) c.398C>G (p.Ala133Gly) n.541C>G | |
15 | g.89333412G= | CA2194572421 | POLG,POLGARF | c.343C= (p.Gln115=) c.398C= (p.Ala133=) n.541C= | |
15 | g.89333412G>T | CA274566051 | POLG,POLGARF | c.343C>A (p.Gln115Lys) c.398C>A (p.Ala133Glu) n.541C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333413C>A | CA492290112 | POLG,POLGARF | c.342G>T (p.Gly114=) c.397G>T (p.Ala133Ser) n.540G>T | ClinVar |
15 | g.89333413C= | CA2194572426 | POLG,POLGARF | c.342G= (p.Gly114=) c.397G= (p.Ala133=) n.540G= | |
15 | g.89333413C>G | CA492290113 | POLG,POLGARF | c.342G>C (p.Gly114=) c.397G>C (p.Ala133Pro) n.540G>C | |
15 | g.89333413C>T | CA492290114 | POLG,POLGARF | c.342G>A (p.Gly114=) c.397G>A (p.Ala133Thr) n.540G>A | dbSNP gnomAD v4 |
15 | g.89333417dup | CA2630256937 | POLG,POLGARF | c.342dup (p.Gln115AlafsTer?) c.397dup (p.Ala133GlyfsTer?) n.540dup | gnomAD v4 |
15 | g.89333417del | CA2630256938 | POLG,POLGARF | c.342del (p.Gln115SerfsTer?) c.397del (p.Ala133GlnfsTer?) n.540del | gnomAD v4 |
15 | g.89333414C>A | CA393772504 | POLG,POLGARF | c.341G>T (p.Gly114Val) c.396G>T (p.Gly132=) n.539G>T | |
15 | g.89333414C>G | CA393772507 | POLG,POLGARF | c.341G>C (p.Gly114Ala) c.396G>C (p.Gly132=) n.539G>C | |
15 | g.89333414C>T | CA393772510 | POLG,POLGARF | c.341G>A (p.Gly114Glu) c.396G>A (p.Gly132=) n.539G>A | gnomAD v4 |
15 | g.89333415C>A | CA393772525 | POLG,POLGARF | c.340G>T (p.Gly114Trp) c.395G>T (p.Gly132Val) n.538G>T | |
15 | g.89333415C= | CA2194572444 | POLG,POLGARF | c.340G= (p.Gly114=) c.395G= (p.Gly132=) n.538G= | |
15 | g.89333415C>G | CA393772516 | POLG,POLGARF | c.340G>C (p.Gly114Arg) c.395G>C (p.Gly132Ala) n.538G>C | |
15 | g.89333415C>T | CA7725129 | POLG,POLGARF | c.340G>A (p.Gly114Arg) c.395G>A (p.Gly132Glu) n.538G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333416C>A | CA393772532 | POLG,POLGARF | c.339G>T (p.Trp113Cys) c.394G>T (p.Gly132Trp) n.537G>T | ClinVar gnomAD v4 |
15 | g.89333416C>G | CA393772535 | POLG,POLGARF | c.339G>C (p.Trp113Cys) c.394G>C (p.Gly132Arg) n.537G>C | |
15 | g.89333416C>T | CA393772542 | POLG,POLGARF | c.339G>A (p.Trp113Ter) c.394G>A (p.Gly132Arg) n.537G>A | |
15 | g.89333417C>A | CA393772546 | POLG,POLGARF | c.338G>T (p.Trp113Leu) c.393G>T (p.Leu131=) n.536G>T | |
15 | g.89333417C>G | CA393772553 | POLG,POLGARF | c.338G>C (p.Trp113Ser) c.393G>C (p.Leu131=) n.536G>C | |
15 | g.89333417C>T | CA393772557 | POLG,POLGARF | c.338G>A (p.Trp113Ter) c.393G>A (p.Leu131=) n.536G>A | |
15 | g.89333418A= | CA2194572460 | POLG,POLGARF | c.337T= (p.Trp113=) c.392T= (p.Leu131=) n.535T= | |
15 | g.89333418A>C | CA7725130 | POLG,POLGARF | c.337T>G (p.Trp113Gly) c.392T>G (p.Leu131Arg) n.535T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333418A>G | CA393772565 | POLG,POLGARF | c.337T>C (p.Trp113Arg) c.392T>C (p.Leu131Pro) n.535T>C | |
15 | g.89333418A>T | CA393772568 | POLG,POLGARF | c.337T>A (p.Trp113Arg) c.392T>A (p.Leu131Gln) n.535T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333419G>A | CA492290124 | POLG,POLGARF | c.336C>T (p.Leu112=) c.391C>T (p.Leu131=) n.534C>T | |
15 | g.89333419G>C | CA16607931 | POLG,POLGARF | c.336C>G (p.Leu112=) c.391C>G (p.Leu131Val) n.534C>G | ClinVar dbSNP |
15 | g.89333419G= | CA2194572468 | POLG,POLGARF | c.336C= (p.Leu112=) c.391C= (p.Leu131=) n.534C= | |
15 | g.89333419G>T | CA492290120 | POLG,POLGARF | c.336C>A (p.Leu112=) c.391C>A (p.Leu131Met) n.534C>A | gnomAD v4 |
15 | g.89333420A= | CA2194572478 | POLG,POLGARF | c.335T= (p.Leu112=) c.390T= (p.Ala130=) n.533T= | |
15 | g.89333420A>C | CA393772574 | POLG,POLGARF | c.335T>G (p.Leu112Arg) c.390T>G (p.Ala130=) n.533T>G | |
15 | g.89333420A>G | CA7725131 | POLG,POLGARF | c.335T>C (p.Leu112Pro) c.390T>C (p.Ala130=) n.533T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333420A>T | CA393772582 | POLG,POLGARF | c.335T>A (p.Leu112His) c.390T>A (p.Ala130=) n.533T>A | |
15 | g.89333421G>A | CA393772587 | POLG,POLGARF | c.334C>T (p.Leu112Phe) c.389C>T (p.Ala130Val) n.532C>T | dbSNP |
15 | g.89333421G>C | CA7725132 | POLG,POLGARF | c.334C>G (p.Leu112Val) c.389C>G (p.Ala130Gly) n.532C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333421G= | CA2194572483 | POLG,POLGARF | c.334C= (p.Leu112=) c.389C= (p.Ala130=) n.532C= | |
15 | g.89333421G>T | CA393772591 | POLG,POLGARF | c.334C>A (p.Leu112Ile) c.389C>A (p.Ala130Asp) n.532C>A | gnomAD v4 |
15 | g.89333422C>A | CA16614590 | POLG,POLGARF | c.333G>T (p.Gly111=) c.388G>T (p.Ala130Ser) n.531G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333422C= | CA2194572490 | POLG,POLGARF | c.333G= (p.Gly111=) c.388G= (p.Ala130=) n.531G= | |
15 | g.89333422C>G | CA492290127 | POLG,POLGARF | c.333G>C (p.Gly111=) c.388G>C (p.Ala130Pro) n.531G>C | |
15 | g.89333422C>T | CA492290129 | POLG,POLGARF | c.333G>A (p.Gly111=) c.388G>A (p.Ala130Thr) n.531G>A | gnomAD v4 |
15 | g.89333423C>A | CA393772610 | POLG,POLGARF | c.332G>T (p.Gly111Val) c.387G>T (p.Arg129=) n.530G>T | |
15 | g.89333423C>G | CA393772604 | POLG,POLGARF | c.332G>C (p.Gly111Ala) c.387G>C (p.Arg129=) n.530G>C | |
15 | g.89333423C>T | CA393772606 | POLG,POLGARF | c.332G>A (p.Gly111Glu) c.387G>A (p.Arg129=) n.530G>A | |
15 | g.89333424C>A | CA393772618 | POLG,POLGARF | c.331G>T (p.Gly111Trp) c.386G>T (p.Arg129Leu) n.529G>T | gnomAD v4 |
15 | g.89333424C= | CA2194572501 | POLG,POLGARF | c.331G= (p.Gly111=) c.386G= (p.Arg129=) n.529G= | |
15 | g.89333424C>G | CA7725133 | POLG,POLGARF | c.331G>C (p.Gly111Arg) c.386G>C (p.Arg129Pro) n.529G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333424C>T | CA393772630 | POLG,POLGARF | c.331G>A (p.Gly111Arg) c.386G>A (p.Arg129Gln) n.529G>A | gnomAD v4 |
15 | g.89333425del | CA645574966 | POLG,POLGARF | c.330del (p.His110GlnfsTer?) c.385del (p.Arg129GlyfsTer?) n.528del | COSMIC |
15 | g.89333425G>A | CA274566083 | POLG,POLGARF | c.330C>T (p.His110=) c.385C>T (p.Arg129Trp) n.528C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333425G>C | CA393772654 | POLG,POLGARF | c.330C>G (p.His110Gln) c.385C>G (p.Arg129Gly) n.528C>G | |
15 | g.89333425G= | CA2194572511 | POLG,POLGARF | c.330C= (p.His110=) c.385C= (p.Arg129=) n.528C= | |
15 | g.89333425G>T | CA393772658 | POLG,POLGARF | c.330C>A (p.His110Gln) c.385C>A (p.Arg129=) n.528C>A | |
15 | g.89333425dup | CA2843304775 | POLG,POLGARF | c.330dup (p.Gly111ArgfsTer?) c.385dup (p.Arg129ProfsTer?) n.528dup | |
15 | g.89333426T>A | CA393772663 | POLG,POLGARF | c.329A>T (p.His110Leu) c.384A>T (p.Ala128=) n.527A>T | |
15 | g.89333426T>C | CA393772666 | POLG,POLGARF | c.329A>G (p.His110Arg) c.384A>G (p.Ala128=) n.527A>G | |
15 | g.89333426T>G | CA393772669 | POLG,POLGARF | c.329A>C (p.His110Pro) c.384A>C (p.Ala128=) n.527A>C | gnomAD v4 |
15 | g.89333427G>A | CA316877 | POLG,POLGARF | c.328C>T (p.His110Tyr) c.383C>T (p.Ala128Val) n.526C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333427G>C | CA393772675 | POLG,POLGARF | c.328C>G (p.His110Asp) c.383C>G (p.Ala128Gly) n.526C>G | |
15 | g.89333427G= | CA2194572518 | POLG,POLGARF | c.328C= (p.His110=) c.383C= (p.Ala128=) n.526C= | |
15 | g.89333427G>T | CA393772676 | POLG,POLGARF | c.328C>A (p.His110Asn) c.383C>A (p.Ala128Glu) n.526C>A | gnomAD v4 |
15 | g.89333428C>A | CA393772677 | POLG,POLGARF | c.327G>T (p.Lys109Asn) c.382G>T (p.Ala128Ser) n.525G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333428C= | CA2194572522 | POLG,POLGARF | c.327G= (p.Lys109=) c.382G= (p.Ala128=) n.525G= | |
15 | g.89333428C>G | CA393772678 | POLG,POLGARF | c.327G>C (p.Lys109Asn) c.382G>C (p.Ala128Pro) n.525G>C | |
15 | g.89333428C>T | CA492290135 | POLG,POLGARF | c.327G>A (p.Lys109=) c.382G>A (p.Ala128Thr) n.525G>A | ClinVar |
15 | g.89333429T>A | CA393772682 | POLG,POLGARF | c.326A>T (p.Lys109Met) c.381A>T (p.Glu127Asp) n.524A>T | |
15 | g.89333429T>C | CA393772685 | POLG,POLGARF | c.326A>G (p.Lys109Arg) c.381A>G (p.Glu127=) n.524A>G | gnomAD v4 |
15 | g.89333429T>G | CA393772687 | POLG,POLGARF | c.326A>C (p.Lys109Thr) c.381A>C (p.Glu127Asp) n.524A>C | |
15 | g.89333430T>A | CA393772703 | POLG,POLGARF | c.325A>T (p.Lys109Ter) c.380A>T (p.Glu127Val) n.523A>T | |
15 | g.89333430T>C | CA274566089 | POLG,POLGARF | c.325A>G (p.Lys109Glu) c.380A>G (p.Glu127Gly) n.523A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333430T>G | CA393772710 | POLG,POLGARF | c.325A>C (p.Lys109Gln) c.380A>C (p.Glu127Ala) n.523A>C | |
15 | g.89333430T= | CA2194572524 | POLG,POLGARF | c.325A= (p.Lys109=) c.380A= (p.Glu127=) n.523A= | |
15 | g.89333431C>A | CA393772723 | POLG,POLGARF | c.324G>T (p.Gln108His) c.379G>T (p.Glu127Ter) n.522G>T | |
15 | g.89333431C>G | CA393772727 | POLG,POLGARF | c.324G>C (p.Gln108His) c.379G>C (p.Glu127Gln) n.522G>C | |
15 | g.89333431C>T | CA492290140 | POLG,POLGARF | c.324G>A (p.Gln108=) c.379G>A (p.Glu127Lys) n.522G>A | |
15 | g.89333432T>A | CA393772732 | POLG,POLGARF | c.323A>T (p.Gln108Leu) c.378A>T (p.Ala126=) n.521A>T | gnomAD v4 |
15 | g.89333432T>C | CA393772735 | POLG,POLGARF | c.323A>G (p.Gln108Arg) c.378A>G (p.Ala126=) n.521A>G | |
15 | g.89333432T>G | CA393772738 | POLG,POLGARF | c.323A>C (p.Gln108Pro) c.378A>C (p.Ala126=) n.521A>C | |
15 | g.89333432_89333461delinsTGCAGGTGCTCGACGCTGCGGCGCACCGCG | CA2194572525 | POLG,POLGARF | c.294_323delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA (p.Ala98=) c.349_378delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA (p.Arg117=) n.492_521delinsCGCGGTGCGCCGCAGCGTCGAGCACCTGCA | |
15 | g.89333433G>A | CA274566097 | POLG,POLGARF | c.322C>T (p.Gln108Ter) c.377C>T (p.Ala126Val) n.520C>T | dbSNP |
15 | g.89333433G>C | CA393772757 | POLG,POLGARF | c.322C>G (p.Gln108Glu) c.377C>G (p.Ala126Gly) n.520C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333433G= | CA2194572529 | POLG,POLGARF | c.322C= (p.Gln108=) c.377C= (p.Ala126=) n.520C= | |
15 | g.89333433G>T | CA393772753 | POLG,POLGARF | c.322C>A (p.Gln108Lys) c.377C>A (p.Ala126Glu) n.520C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333435_89333463del | CA619857539 | POLG,POLGARF | c.294_322del (p.Ala99GlufsTer?) c.349_377del (p.Gly118SerfsTer?) n.492_520del | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333434C>A | CA492290147 | POLG,POLGARF | c.321G>T (p.Leu107=) c.376G>T (p.Ala126Ser) n.519G>T | |
15 | g.89333434C>G | CA492290146 | POLG,POLGARF | c.321G>C (p.Leu107=) c.376G>C (p.Ala126Pro) n.519G>C | |
15 | g.89333434C>T | CA492290145 | POLG,POLGARF | c.321G>A (p.Leu107=) c.376G>A (p.Ala126Thr) n.519G>A | |
15 | g.89333435A>C | CA393772761 | POLG,POLGARF | c.320T>G (p.Leu107Arg) c.375T>G (p.Pro125=) n.518T>G | |
15 | g.89333435A>G | CA393772762 | POLG,POLGARF | c.320T>C (p.Leu107Pro) c.375T>C (p.Pro125=) n.518T>C | |
15 | g.89333435A>T | CA393772765 | POLG,POLGARF | c.320T>A (p.Leu107Gln) c.375T>A (p.Pro125=) n.518T>A |