Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89333278C>A | CA393771397 | POLG,POLGARF | c.477G>T (p.Gln159His) c.532G>T (p.Gly178Cys) c.78G>T (p.Gln26His) c.134G>T n.675G>T | dbSNP |
15 | g.89333278C= | CA2194572026 | POLG,POLGARF | c.477G= (p.Gln159=) c.532G= (p.Gly178=) c.78G= (p.Gln26=) c.134G= n.675G= | |
15 | g.89333278C>G | CA393771400 | POLG,POLGARF | c.477G>C (p.Gln159His) c.532G>C (p.Gly178Arg) c.78G>C (p.Gln26His) c.134G>C n.675G>C | dbSNP |
15 | g.89333278C>T | CA492289940 | POLG,POLGARF | c.477G>A (p.Gln159=) c.532G>A (p.Gly178Ser) c.78G>A (p.Gln26=) c.134G>A n.675G>A | gnomAD v4 |
15 | g.89333279T>A | CA393771411 | POLG,POLGARF | c.476A>T (p.Gln159Leu) c.531A>T (p.Ala177=) c.77A>T (p.Gln26Leu) c.133A>T n.674A>T | |
15 | g.89333279T>C | CA393771408 | POLG,POLGARF | c.476A>G (p.Gln159Arg) c.531A>G (p.Ala177=) c.77A>G (p.Gln26Arg) c.133A>G n.674A>G | gnomAD v4 |
15 | g.89333279T>G | CA393771404 | POLG,POLGARF | c.476A>C (p.Gln159Pro) c.531A>C (p.Ala177=) c.77A>C (p.Gln26Pro) c.133A>C n.674A>C | |
15 | g.89333280G>A | CA393771414 | POLG,POLGARF | c.475C>T (p.Gln159Ter) c.530C>T (p.Ala177Val) c.76C>T (p.Gln26Ter) c.132C>T n.673C>T | gnomAD v4 |
15 | g.89333280G>C | CA393771419 | POLG,POLGARF | c.475C>G (p.Gln159Glu) c.530C>G (p.Ala177Gly) c.76C>G (p.Gln26Glu) c.132C>G n.673C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333280G= | CA2194572034 | POLG,POLGARF | c.475C= (p.Gln159=) c.530C= (p.Ala177=) c.76C= (p.Gln26=) c.132C= n.673C= | |
15 | g.89333280G>T | CA393771417 | POLG,POLGARF | c.475C>A (p.Gln159Lys) c.530C>A (p.Ala177Glu) c.76C>A (p.Gln26Lys) c.132C>A n.673C>A | gnomAD v4 |
15 | g.89333281C>A | CA393771423 | POLG,POLGARF | c.474G>T (p.Leu158Phe) c.529G>T (p.Ala177Ser) c.75G>T (p.Leu25Phe) c.131G>T n.672G>T | gnomAD v4 |
15 | g.89333281C>G | CA393771426 | POLG,POLGARF | c.474G>C (p.Leu158Phe) c.529G>C (p.Ala177Pro) c.75G>C (p.Leu25Phe) c.131G>C n.672G>C | |
15 | g.89333281C>T | CA492289944 | POLG,POLGARF | c.474G>A (p.Leu158=) c.529G>A (p.Ala177Thr) c.75G>A (p.Leu25=) c.131G>A n.672G>A | gnomAD v4 |
15 | g.89333282A>C | CA393771434 | POLG,POLGARF | c.473T>G (p.Leu158Trp) c.528T>G (p.Val176=) c.74T>G (p.Leu25Trp) c.130T>G n.671T>G | |
15 | g.89333282A>G | CA393771439 | POLG,POLGARF | c.473T>C (p.Leu158Ser) c.528T>C (p.Val176=) c.74T>C (p.Leu25Ser) c.130T>C n.671T>C | |
15 | g.89333282A>T | CA393771436 | POLG,POLGARF | c.473T>A (p.Leu158Ter) c.528T>A (p.Val176=) c.74T>A (p.Leu25Ter) c.130T>A n.671T>A | |
15 | g.89333283A= | CA2194572038 | POLG,POLGARF | c.472T= (p.Leu158=) c.527T= (p.Val176=) c.73T= (p.Leu25=) c.129T= n.670T= | |
15 | g.89333283A>C | CA393771442 | POLG,POLGARF | c.472T>G (p.Leu158Val) c.527T>G (p.Val176Gly) c.73T>G (p.Leu25Val) c.129T>G n.670T>G | gnomAD v4 |
15 | g.89333283A>G | CA492289945 | POLG,POLGARF | c.472T>C (p.Leu158=) c.527T>C (p.Val176Ala) c.73T>C (p.Leu25=) c.129T>C n.670T>C | ClinVar dbSNP |
15 | g.89333283A>T | CA393771444 | POLG,POLGARF | c.472T>A (p.Leu158Met) c.527T>A (p.Val176Asp) c.73T>A (p.Leu25Met) c.129T>A n.670T>A | |
15 | g.89333284C>A | CA7725109 | POLG,POLGARF | c.471G>T (p.Leu157=) c.526G>T (p.Val176Phe) c.72G>T (p.Leu24=) c.128G>T n.669G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333284C= | CA2194572051 | POLG,POLGARF | c.471G= (p.Leu157=) c.526G= (p.Val176=) c.72G= (p.Leu24=) c.128G= n.669G= | |
15 | g.89333284C>G | CA492289946 | POLG,POLGARF | c.471G>C (p.Leu157=) c.526G>C (p.Val176Leu) c.72G>C (p.Leu24=) c.128G>C n.669G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333284C>T | CA492289947 | POLG,POLGARF | c.471G>A (p.Leu157=) c.526G>A (p.Val176Ile) c.72G>A (p.Leu24=) c.128G>A n.669G>A | gnomAD v4 |
15 | g.89333285A= | CA2194572057 | POLG,POLGARF | c.470T= (p.Leu157=) c.525T= (p.Ala175=) c.71T= (p.Leu24=) c.127T= n.668T= | |
15 | g.89333285A>C | CA393771448 | POLG,POLGARF | c.470T>G (p.Leu157Arg) c.525T>G (p.Ala175=) c.71T>G (p.Leu24Arg) c.127T>G n.668T>G | |
15 | g.89333285A>G | CA10602290 | POLG,POLGARF | c.470T>C (p.Leu157Pro) c.525T>C (p.Ala175=) c.71T>C (p.Leu24Pro) c.127T>C n.668T>C | ClinVar dbSNP |
15 | g.89333285A>T | CA393771459 | POLG,POLGARF | c.470T>A (p.Leu157Gln) c.525T>A (p.Ala175=) c.71T>A (p.Leu24Gln) c.127T>A n.668T>A | |
15 | g.89333286G>A | CA492289951 | POLG,POLGARF | c.469C>T (p.Leu157=) c.524C>T (p.Ala175Val) c.70C>T (p.Leu24=) c.126C>T n.667C>T | gnomAD v4 |
15 | g.89333286G>C | CA393771462 | POLG,POLGARF | c.469C>G (p.Leu157Val) c.524C>G (p.Ala175Gly) c.70C>G (p.Leu24Val) c.126C>G n.667C>G | |
15 | g.89333286G>T | CA393771465 | POLG,POLGARF | c.469C>A (p.Leu157Met) c.524C>A (p.Ala175Asp) c.70C>A (p.Leu24Met) c.126C>A n.667C>A | gnomAD v4 |
15 | g.89333287C>A | CA393771481 | POLG,POLGARF | c.468G>T (p.Leu156Phe) c.523G>T (p.Ala175Ser) c.69G>T (p.Leu23Phe) c.125G>T n.666G>T | |
15 | g.89333287C= | CA2194572060 | POLG,POLGARF | c.468G= (p.Leu156=) c.523G= (p.Ala175=) c.69G= (p.Leu23=) c.125G= n.666G= | |
15 | g.89333287C>G | CA393771485 | POLG,POLGARF | c.468G>C (p.Leu156Phe) c.523G>C (p.Ala175Pro) c.69G>C (p.Leu23Phe) c.125G>C n.666G>C | ClinVar |
15 | g.89333287C>T | CA492289952 | POLG,POLGARF | c.468G>A (p.Leu156=) c.523G>A (p.Ala175Thr) c.69G>A (p.Leu23=) c.125G>A n.666G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333288A>C | CA393771490 | POLG,POLGARF | c.467T>G (p.Leu156Trp) c.522T>G (p.Leu174=) c.68T>G (p.Leu23Trp) c.124T>G n.665T>G | |
15 | g.89333288A>G | CA393771495 | POLG,POLGARF | c.467T>C (p.Leu156Ser) c.522T>C (p.Leu174=) c.68T>C (p.Leu23Ser) c.124T>C n.665T>C | ClinVar |
15 | g.89333288A>T | CA393771492 | POLG,POLGARF | c.467T>A (p.Leu156Ter) c.522T>A (p.Leu174=) c.68T>A (p.Leu23Ter) c.124T>A n.665T>A | |
15 | g.89333289A>C | CA393771499 | POLG,POLGARF | c.466T>G (p.Leu156Val) c.521T>G (p.Leu174Arg) c.67T>G (p.Leu23Val) c.123T>G n.664T>G | |
15 | g.89333289A>G | CA492289953 | POLG,POLGARF | c.466T>C (p.Leu156=) c.521T>C (p.Leu174Pro) c.67T>C (p.Leu23=) c.123T>C n.664T>C | gnomAD v4 |
15 | g.89333289A>T | CA393771503 | POLG,POLGARF | c.466T>A (p.Leu156Met) c.521T>A (p.Leu174His) c.67T>A (p.Leu23Met) c.123T>A n.664T>A | |
15 | g.89333290G>A | CA492289956 | POLG,POLGARF | c.465C>T (p.Asn155=) c.520C>T (p.Leu174Phe) c.66C>T (p.Asn22=) c.122C>T n.663C>T | |
15 | g.89333290G>C | CA393771511 | POLG,POLGARF | c.465C>G (p.Asn155Lys) c.520C>G (p.Leu174Val) c.66C>G (p.Asn22Lys) c.122C>G n.663C>G | gnomAD v4 |
15 | g.89333290G>T | CA393771514 | POLG,POLGARF | c.465C>A (p.Asn155Lys) c.520C>A (p.Leu174Ile) c.66C>A (p.Asn22Lys) c.122C>A n.663C>A | |
15 | g.89333291T>A | CA393771515 | POLG,POLGARF | c.464A>T (p.Asn155Ile) c.519A>T (p.Gln173His) c.65A>T (p.Asn22Ile) c.121A>T n.662A>T | |
15 | g.89333291T>C | CA393771517 | POLG,POLGARF | c.464A>G (p.Asn155Ser) c.519A>G (p.Gln173=) c.65A>G (p.Asn22Ser) c.121A>G n.662A>G | |
15 | g.89333291T>G | CA393771516 | POLG,POLGARF | c.464A>C (p.Asn155Thr) c.519A>C (p.Gln173His) c.65A>C (p.Asn22Thr) c.121A>C n.662A>C | |
15 | g.89333292T>A | CA393771521 | POLG,POLGARF | c.463A>T (p.Asn155Tyr) c.518A>T (p.Gln173Leu) c.64A>T (p.Asn22Tyr) c.120A>T n.661A>T | |
15 | g.89333292T>C | CA393771522 | POLG,POLGARF | c.463A>G (p.Asn155Asp) c.518A>G (p.Gln173Arg) c.64A>G (p.Asn22Asp) c.120A>G n.661A>G | |
15 | g.89333292T>G | CA393771525 | POLG,POLGARF | c.463A>C (p.Asn155His) c.518A>C (p.Gln173Pro) c.64A>C (p.Asn22His) c.120A>C n.661A>C | |
15 | g.89333293G>A | CA274565913 | POLG,POLGARF | c.462C>T (p.Ala154=) c.517C>T (p.Gln173Ter) c.63C>T (p.Ala21=) c.119C>T n.660C>T | dbSNP gnomAD v4 |
15 | g.89333293G>C | CA492289959 | POLG,POLGARF | c.462C>G (p.Ala154=) c.517C>G (p.Gln173Glu) c.63C>G (p.Ala21=) c.119C>G n.660C>G | |
15 | g.89333293G= | CA2194572063 | POLG,POLGARF | c.462C= (p.Ala154=) c.517C= (p.Gln173=) c.63C= (p.Ala21=) c.119C= n.660C= | |
15 | g.89333293G>T | CA492289958 | POLG,POLGARF | c.462C>A (p.Ala154=) c.517C>A (p.Gln173Lys) c.63C>A (p.Ala21=) c.119C>A n.660C>A | gnomAD v4 |
15 | g.89333294G>A | CA393771530 | POLG,POLGARF | c.461C>T (p.Ala154Val) c.516C>T (p.Gly172=) c.62C>T (p.Ala21Val) c.118C>T n.659C>T | gnomAD v4 |
15 | g.89333294G>C | CA393771534 | POLG,POLGARF | c.461C>G (p.Ala154Gly) c.516C>G (p.Gly172=) c.62C>G (p.Ala21Gly) c.118C>G n.659C>G | |
15 | g.89333294G>T | CA393771537 | POLG,POLGARF | c.461C>A (p.Ala154Asp) c.516C>A (p.Gly172=) c.62C>A (p.Ala21Asp) c.118C>A n.659C>A | gnomAD v4 |
15 | g.89333295C>A | CA393771546 | POLG,POLGARF | c.460G>T (p.Ala154Ser) c.515G>T (p.Gly172Val) c.61G>T (p.Ala21Ser) c.117G>T n.658G>T | gnomAD v4 |
15 | g.89333295C= | CA2194572070 | POLG,POLGARF | c.460G= (p.Ala154=) c.515G= (p.Gly172=) c.61G= (p.Ala21=) c.117G= n.658G= | |
15 | g.89333295C>G | CA393771549 | POLG,POLGARF | c.460G>C (p.Ala154Pro) c.515G>C (p.Gly172Ala) c.61G>C (p.Ala21Pro) c.117G>C n.658G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333295C>T | CA316800 | POLG,POLGARF | c.460G>A (p.Ala154Thr) c.515G>A (p.Gly172Asp) c.61G>A (p.Ala21Thr) c.117G>A n.658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333296C>A | CA492289963 | POLG,POLGARF | c.459G>T (p.Ala153=) c.514G>T (p.Gly172Cys) c.60G>T (p.Ala20=) c.116G>T n.657G>T | gnomAD v4 |
15 | g.89333296C>G | CA492289964 | POLG,POLGARF | c.459G>C (p.Ala153=) c.514G>C (p.Gly172Arg) c.60G>C (p.Ala20=) c.116G>C n.657G>C | gnomAD v4 |
15 | g.89333296C>T | CA492289965 | POLG,POLGARF | c.459G>A (p.Ala153=) c.514G>A (p.Gly172Ser) c.60G>A (p.Ala20=) c.116G>A n.657G>A | ClinVar gnomAD v4 |
15 | g.89333297G>A | CA393771559 | POLG,POLGARF | c.458C>T (p.Ala153Val) c.513C>T (p.Gly171=) c.59C>T (p.Ala20Val) c.115C>T n.656C>T | ClinVar gnomAD v4 |
15 | g.89333297G>C | CA393771563 | POLG,POLGARF | c.458C>G (p.Ala153Gly) c.513C>G (p.Gly171=) c.59C>G (p.Ala20Gly) c.115C>G n.656C>G | gnomAD v4 |
15 | g.89333297G>T | CA393771568 | POLG,POLGARF | c.458C>A (p.Ala153Glu) c.513C>A (p.Gly171=) c.59C>A (p.Ala20Glu) c.115C>A n.656C>A | gnomAD v4 |
15 | g.89333298C>A | CA393771579 | POLG,POLGARF | c.457G>T (p.Ala153Ser) c.512G>T (p.Gly171Val) c.58G>T (p.Ala20Ser) c.114G>T n.655G>T | gnomAD v4 |
15 | g.89333298C>G | CA393771572 | POLG,POLGARF | c.457G>C (p.Ala153Pro) c.512G>C (p.Gly171Ala) c.58G>C (p.Ala20Pro) c.114G>C n.655G>C | |
15 | g.89333298C>T | CA393771576 | POLG,POLGARF | c.457G>A (p.Ala153Thr) c.512G>A (p.Gly171Asp) c.58G>A (p.Ala20Thr) c.114G>A n.655G>A | |
15 | g.89333299C>A | CA393771582 | POLG,POLGARF | c.456G>T (p.Glu152Asp) c.511G>T (p.Gly171Cys) c.57G>T (p.Glu19Asp) c.113G>T n.654G>T | gnomAD v4 |
15 | g.89333299C>G | CA393771587 | POLG,POLGARF | c.456G>C (p.Glu152Asp) c.511G>C (p.Gly171Arg) c.57G>C (p.Glu19Asp) c.113G>C n.654G>C | |
15 | g.89333299C>T | CA492289966 | POLG,POLGARF | c.456G>A (p.Glu152=) c.511G>A (p.Gly171Ser) c.57G>A (p.Glu19=) c.113G>A n.654G>A | ClinVar gnomAD v4 |
15 | g.89333300T>A | CA393771592 | POLG,POLGARF | c.455A>T (p.Glu152Val) c.510A>T (p.Gly170=) c.56A>T (p.Glu19Val) c.112A>T n.653A>T | |
15 | g.89333300T>C | CA393771593 | POLG,POLGARF | c.455A>G (p.Glu152Gly) c.510A>G (p.Gly170=) c.56A>G (p.Glu19Gly) c.112A>G n.653A>G | gnomAD v4 |
15 | g.89333300T>G | CA393771595 | POLG,POLGARF | c.455A>C (p.Glu152Ala) c.510A>C (p.Gly170=) c.56A>C (p.Glu19Ala) c.112A>C n.653A>C | |
15 | g.89333301C>A | CA393771613 | POLG,POLGARF | c.454G>T (p.Glu152Ter) c.509G>T (p.Gly170Val) c.55G>T (p.Glu19Ter) c.111G>T n.652G>T | gnomAD v4 |
15 | g.89333301C>G | CA393771618 | POLG,POLGARF | c.454G>C (p.Glu152Gln) c.509G>C (p.Gly170Ala) c.55G>C (p.Glu19Gln) c.111G>C n.652G>C | |
15 | g.89333301C>T | CA393771621 | POLG,POLGARF | c.454G>A (p.Glu152Lys) c.509G>A (p.Gly170Glu) c.55G>A (p.Glu19Lys) c.111G>A n.652G>A | gnomAD v4 |
15 | g.89333302C>A | CA492289968 | POLG,POLGARF | c.453G>T (p.Leu151=) c.508G>T (p.Gly170Ter) c.54G>T (p.Leu18=) c.110G>T n.651G>T | gnomAD v4 |
15 | g.89333302C= | CA2194572075 | POLG,POLGARF | c.453G= (p.Leu151=) c.508G= (p.Gly170=) c.54G= (p.Leu18=) c.110G= n.651G= | |
15 | g.89333302C>G | CA492289969 | POLG,POLGARF | c.453G>C (p.Leu151=) c.508G>C (p.Gly170Arg) c.54G>C (p.Leu18=) c.110G>C n.651G>C | |
15 | g.89333302C>T | CA7725110 | POLG,POLGARF | c.453G>A (p.Leu151=) c.508G>A (p.Gly170Arg) c.54G>A (p.Leu18=) c.110G>A n.651G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333303A= | CA2194572085 | POLG,POLGARF | c.452T= (p.Leu151=) c.507T= (p.Pro169=) c.53T= (p.Leu18=) c.109T= n.650T= | |
15 | g.89333303A>C | CA393771630 | POLG,POLGARF | c.452T>G (p.Leu151Arg) c.507T>G (p.Pro169=) c.53T>G (p.Leu18Arg) c.109T>G n.650T>G | ClinVar |
15 | g.89333303A>G | CA7725111 | POLG,POLGARF | c.452T>C (p.Leu151Pro) c.507T>C (p.Pro169=) c.53T>C (p.Leu18Pro) c.109T>C n.650T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333303A>T | CA393771635 | POLG,POLGARF | c.452T>A (p.Leu151Gln) c.507T>A (p.Pro169=) c.53T>A (p.Leu18Gln) c.109T>A n.650T>A | |
15 | g.89333304G>A | CA492289970 | POLG,POLGARF | c.451C>T (p.Leu151=) c.506C>T (p.Pro169Leu) c.52C>T (p.Leu18=) c.108C>T n.649C>T | ClinVar |
15 | g.89333304G>C | CA7725112 | POLG,POLGARF | c.451C>G (p.Leu151Val) c.506C>G (p.Pro169Arg) c.52C>G (p.Leu18Val) c.108C>G n.649C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333304G= | CA2194572088 | POLG,POLGARF | c.451C= (p.Leu151=) c.506C= (p.Pro169=) c.52C= (p.Leu18=) c.108C= n.649C= | |
15 | g.89333304G>T | CA393771639 | POLG,POLGARF | c.451C>A (p.Leu151Met) c.506C>A (p.Pro169His) c.52C>A (p.Leu18Met) c.108C>A n.649C>A | |
15 | g.89333305G>A | CA492289973 | POLG,POLGARF | c.450C>T (p.Tyr150=) c.505C>T (p.Pro169Ser) c.51C>T (p.Tyr17=) c.107C>T n.648C>T | ClinVar |
15 | g.89333305G>C | CA393771642 | POLG,POLGARF | c.450C>G (p.Tyr150Ter) c.505C>G (p.Pro169Ala) c.51C>G (p.Tyr17Ter) c.107C>G n.648C>G | |
15 | g.89333305G>T | CA393771648 | POLG,POLGARF | c.450C>A (p.Tyr150Ter) c.505C>A (p.Pro169Thr) c.51C>A (p.Tyr17Ter) c.107C>A n.648C>A | gnomAD v4 |
15 | g.89333306T>A | CA393771651 | POLG,POLGARF | c.449A>T (p.Tyr150Phe) c.504A>T (p.Leu168=) c.50A>T (p.Tyr17Phe) c.106A>T n.647A>T | ClinVar gnomAD v4 |
15 | g.89333306T>C | CA393771654 | POLG,POLGARF | c.449A>G (p.Tyr150Cys) c.504A>G (p.Leu168=) c.50A>G (p.Tyr17Cys) c.106A>G n.647A>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333306T>G | CA393771656 | POLG,POLGARF | c.449A>C (p.Tyr150Ser) c.504A>C (p.Leu168=) c.50A>C (p.Tyr17Ser) c.106A>C n.647A>C | |
15 | g.89333306T= | CA2194572092 | POLG,POLGARF | c.449A= (p.Tyr150=) c.504A= (p.Leu168=) c.50A= (p.Tyr17=) c.106A= n.647A= | |
15 | g.89333307A>C | CA393771660 | POLG,POLGARF | c.448T>G (p.Tyr150Asp) c.503T>G (p.Leu168Arg) c.49T>G (p.Tyr17Asp) c.105T>G n.646T>G | |
15 | g.89333307A>G | CA393771662 | POLG,POLGARF | c.448T>C (p.Tyr150His) c.503T>C (p.Leu168Pro) c.49T>C (p.Tyr17His) c.105T>C n.646T>C | |
15 | g.89333307A>T | CA393771670 | POLG,POLGARF | c.448T>A (p.Tyr150Asn) c.503T>A (p.Leu168Gln) c.49T>A (p.Tyr17Asn) c.105T>A n.646T>A | |
15 | g.89333308G>A | CA492289975 | POLG,POLGARF | c.447C>T (p.Pro149=) c.502C>T (p.Leu168=) c.48C>T (p.Pro16=) c.104C>T n.645C>T | gnomAD v4 |
15 | g.89333308G>C | CA492289976 | POLG,POLGARF | c.447C>G (p.Pro149=) c.502C>G (p.Leu168Val) c.48C>G (p.Pro16=) c.104C>G n.645C>G | gnomAD v4 |
15 | g.89333308G>T | CA492289977 | POLG,POLGARF | c.447C>A (p.Pro149=) c.502C>A (p.Leu168Ile) c.48C>A (p.Pro16=) c.104C>A n.645C>A | gnomAD v4 |
15 | g.89333309G>A | CA393771672 | POLG,POLGARF | c.446C>T (p.Pro149Leu) c.501C>T (p.Ala167=) c.47C>T (p.Pro16Leu) c.103C>T n.644C>T | |
15 | g.89333309G>C | CA393771673 | POLG,POLGARF | c.446C>G (p.Pro149Arg) c.501C>G (p.Ala167=) c.47C>G (p.Pro16Arg) c.103C>G n.644C>G | gnomAD v4 |
15 | g.89333309G>T | CA393771674 | POLG,POLGARF | c.446C>A (p.Pro149His) c.501C>A (p.Ala167=) c.47C>A (p.Pro16His) c.103C>A n.644C>A | gnomAD v4 |
15 | g.89333310G>A | CA393771676 | POLG,POLGARF | c.445C>T (p.Pro149Ser) c.500C>T (p.Ala167Val) c.46C>T (p.Pro16Ser) c.102C>T n.643C>T | gnomAD v4 |
15 | g.89333310G>C | CA393771677 | POLG,POLGARF | c.445C>G (p.Pro149Ala) c.500C>G (p.Ala167Gly) c.46C>G (p.Pro16Ala) c.102C>G n.643C>G | |
15 | g.89333310G>T | CA393771685 | POLG,POLGARF | c.445C>A (p.Pro149Thr) c.500C>A (p.Ala167Asp) c.46C>A (p.Pro16Thr) c.102C>A n.643C>A | gnomAD v4 |
15 | g.89333311C>A | CA492289978 | POLG,POLGARF | c.444G>T (p.Leu148=) c.499G>T (p.Ala167Ser) c.45G>T (p.Leu15=) c.101G>T n.642G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333311C>G | CA492289979 | POLG,POLGARF | c.444G>C (p.Leu148=) c.499G>C (p.Ala167Pro) c.45G>C (p.Leu15=) c.101G>C n.642G>C | |
15 | g.89333311C>T | CA492289980 | POLG,POLGARF | c.444G>A (p.Leu148=) c.499G>A (p.Ala167Thr) c.45G>A (p.Leu15=) c.101G>A n.642G>A | gnomAD v4 |
15 | g.89333312A= | CA2194572095 | POLG,POLGARF | c.443T= (p.Leu148=) c.498T= (p.Pro166=) c.44T= (p.Leu15=) c.100T= n.641T= | |
15 | g.89333312A>C | CA393771694 | POLG,POLGARF | c.443T>G (p.Leu148Arg) c.498T>G (p.Pro166=) c.44T>G (p.Leu15Arg) c.100T>G n.641T>G | |
15 | g.89333312A>G | CA393771706 | POLG,POLGARF | c.443T>C (p.Leu148Pro) c.498T>C (p.Pro166=) c.44T>C (p.Leu15Pro) c.100T>C n.641T>C | gnomAD v4 |
15 | g.89333312A>T | CA10602289 | POLG,POLGARF | c.443T>A (p.Leu148Gln) c.498T>A (p.Pro166=) c.44T>A (p.Leu15Gln) c.100T>A n.641T>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333313G>A | CA492289981 | POLG,POLGARF | c.442C>T (p.Leu148=) c.497C>T (p.Pro166Leu) c.43C>T (p.Leu15=) c.99C>T n.640C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333313G>C | CA393771707 | POLG,POLGARF | c.442C>G (p.Leu148Val) c.497C>G (p.Pro166Arg) c.43C>G (p.Leu15Val) c.99C>G n.640C>G | |
15 | g.89333313G= | CA2194572097 | POLG,POLGARF | c.442C= (p.Leu148=) c.497C= (p.Pro166=) c.43C= (p.Leu15=) c.99C= n.640C= | |
15 | g.89333313G>T | CA393771716 | POLG,POLGARF | c.442C>A (p.Leu148Met) c.497C>A (p.Pro166His) c.43C>A (p.Leu15Met) c.99C>A n.640C>A | gnomAD v4 |
15 | g.89333314G>A | CA492289982 | POLG,POLGARF | c.441C>T (p.Ser147=) c.496C>T (p.Pro166Ser) c.42C>T (p.Ser14=) c.98C>T n.639C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333314G>C | CA393771721 | POLG,POLGARF | c.441C>G (p.Ser147Arg) c.496C>G (p.Pro166Ala) c.42C>G (p.Ser14Arg) c.98C>G n.639C>G | |
15 | g.89333314G>T | CA393771724 | POLG,POLGARF | c.441C>A (p.Ser147Arg) c.496C>A (p.Pro166Thr) c.42C>A (p.Ser14Arg) c.98C>A n.639C>A | gnomAD v4 |
15 | g.89333315C>A | CA274565927 | POLG,POLGARF | c.440G>T (p.Ser147Ile) c.495G>T (p.Glu165Asp) c.41G>T (p.Ser14Ile) c.97G>T n.638G>T | dbSNP gnomAD v4 |
15 | g.89333315C= | CA2194572098 | POLG,POLGARF | c.440G= (p.Ser147=) c.495G= (p.Glu165=) c.41G= (p.Ser14=) c.97G= n.638G= | |
15 | g.89333315C>G | CA393771732 | POLG,POLGARF | c.440G>C (p.Ser147Thr) c.495G>C (p.Glu165Asp) c.41G>C (p.Ser14Thr) c.97G>C n.638G>C | |
15 | g.89333315C>T | CA393771736 | POLG,POLGARF | c.440G>A (p.Ser147Asn) c.495G>A (p.Glu165=) c.41G>A (p.Ser14Asn) c.97G>A n.638G>A | dbSNP gnomAD v4 |
15 | g.89333316T>A | CA393771740 | POLG,POLGARF | c.439A>T (p.Ser147Cys) c.494A>T (p.Glu165Val) c.40A>T (p.Ser14Cys) c.96A>T n.637A>T | ClinVar gnomAD v4 |
15 | g.89333316T>C | CA7725113 | POLG,POLGARF | c.439A>G (p.Ser147Gly) c.494A>G (p.Glu165Gly) c.40A>G (p.Ser14Gly) c.96A>G n.637A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333316T>G | CA393771750 | POLG,POLGARF | c.439A>C (p.Ser147Arg) c.494A>C (p.Glu165Ala) c.40A>C (p.Ser14Arg) c.96A>C n.637A>C | gnomAD v4 |
15 | g.89333316T= | CA2194572100 | POLG,POLGARF | c.439A= (p.Ser147=) c.494A= (p.Glu165=) c.40A= (p.Ser14=) c.96A= n.637A= | |
15 | g.89333317C>A | CA393771755 | POLG,POLGARF | c.438G>T (p.Gln146His) c.493G>T (p.Glu165Ter) c.39G>T (p.Gln13His) c.95G>T n.636G>T | gnomAD v4 |
15 | g.89333317C>G | CA393771760 | POLG,POLGARF | c.438G>C (p.Gln146His) c.493G>C (p.Glu165Gln) c.39G>C (p.Gln13His) c.95G>C n.636G>C | ClinVar |
15 | g.89333317C>T | CA492289986 | POLG,POLGARF | c.438G>A (p.Gln146=) c.493G>A (p.Glu165Lys) c.39G>A (p.Gln13=) c.95G>A n.636G>A | |
15 | g.89333318T>A | CA393771764 | POLG,POLGARF | c.437A>T (p.Gln146Leu) c.492A>T (p.Ala164=) c.38A>T (p.Gln13Leu) c.94A>T n.635A>T | |
15 | g.89333318T>C | CA393771765 | POLG,POLGARF | c.437A>G (p.Gln146Arg) c.492A>G (p.Ala164=) c.38A>G (p.Gln13Arg) c.94A>G n.635A>G | |
15 | g.89333318T>G | CA393771768 | POLG,POLGARF | c.437A>C (p.Gln146Pro) c.492A>C (p.Ala164=) c.38A>C (p.Gln13Pro) c.94A>C n.635A>C | |
15 | g.89333319G>A | CA393771773 | POLG,POLGARF | c.436C>T (p.Gln146Ter) c.491C>T (p.Ala164Val) c.37C>T (p.Gln13Ter) c.93C>T n.634C>T | gnomAD v4 |
15 | g.89333319G>C | CA393771782 | POLG,POLGARF | c.436C>G (p.Gln146Glu) c.491C>G (p.Ala164Gly) c.37C>G (p.Gln13Glu) c.93C>G n.634C>G | |
15 | g.89333319G>T | CA393771776 | POLG,POLGARF | c.436C>A (p.Gln146Lys) c.491C>A (p.Ala164Glu) c.37C>A (p.Gln13Lys) c.93C>A n.634C>A | gnomAD v4 |
15 | g.89333320C>A | CA393771787 | POLG,POLGARF | c.435G>T (p.Lys145Asn) c.490G>T (p.Ala164Ser) c.36G>T (p.Lys12Asn) c.92G>T n.633G>T | gnomAD v4 |
15 | g.89333320C>G | CA393771789 | POLG,POLGARF | c.435G>C (p.Lys145Asn) c.490G>C (p.Ala164Pro) c.36G>C (p.Lys12Asn) c.92G>C n.633G>C | |
15 | g.89333320C>T | CA492289989 | POLG,POLGARF | c.435G>A (p.Lys145=) c.490G>A (p.Ala164Thr) c.36G>A (p.Lys12=) c.92G>A n.633G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333321T>A | CA393771792 | POLG,POLGARF | c.434A>T (p.Lys145Met) c.489A>T (p.Glu163Asp) c.35A>T (p.Lys12Met) c.91A>T n.632A>T | |
15 | g.89333321T>C | CA393771793 | POLG,POLGARF | c.434A>G (p.Lys145Arg) c.489A>G (p.Glu163=) c.35A>G (p.Lys12Arg) c.91A>G n.632A>G | ClinVar gnomAD v4 |
15 | g.89333321T>G | CA393771794 | POLG,POLGARF | c.434A>C (p.Lys145Thr) c.489A>C (p.Glu163Asp) c.35A>C (p.Lys12Thr) c.91A>C n.632A>C | |
15 | g.89333322T>A | CA393771795 | POLG,POLGARF | c.433A>T (p.Lys145Ter) c.488A>T (p.Glu163Val) c.34A>T (p.Lys12Ter) c.90A>T n.631A>T | |
15 | g.89333322T>C | CA393771797 | POLG,POLGARF | c.433A>G (p.Lys145Glu) c.488A>G (p.Glu163Gly) c.34A>G (p.Lys12Glu) c.90A>G n.631A>G | |
15 | g.89333322T>G | CA393771801 | POLG,POLGARF | c.433A>C (p.Lys145Gln) c.488A>C (p.Glu163Ala) c.34A>C (p.Lys12Gln) c.90A>C n.631A>C | |
15 | g.89333323C>A | CA393771806 | POLG,POLGARF | c.432G>T (p.Gln144His) c.487G>T (p.Glu163Ter) c.33G>T (p.Gln11His) c.89G>T n.630G>T | gnomAD v4 |
15 | g.89333323C>G | CA393771809 | POLG,POLGARF | c.432G>C (p.Gln144His) c.487G>C (p.Glu163Gln) c.33G>C (p.Gln11His) c.89G>C n.630G>C | |
15 | g.89333323C>T | CA492289990 | POLG,POLGARF | c.432G>A (p.Gln144=) c.487G>A (p.Glu163Lys) c.33G>A (p.Gln11=) c.89G>A n.630G>A | |
15 | g.89333324T>A | CA393771817 | POLG,POLGARF | c.431A>T (p.Gln144Leu) c.486A>T (p.Pro162=) c.32A>T (p.Gln11Leu) c.88A>T n.629A>T | |
15 | g.89333324T>C | CA10602288 | POLG,POLGARF | c.431A>G (p.Gln144Arg) c.486A>G (p.Pro162=) c.32A>G (p.Gln11Arg) c.88A>G n.629A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333324T>G | CA393771813 | POLG,POLGARF | c.431A>C (p.Gln144Pro) c.486A>C (p.Pro162=) c.32A>C (p.Gln11Pro) c.88A>C n.629A>C | |
15 | g.89333324T= | CA2194572106 | POLG,POLGARF | c.431A= (p.Gln144=) c.486A= (p.Pro162=) c.32A= (p.Gln11=) c.88A= n.629A= | |
15 | g.89333325G>A | CA393771821 | POLG,POLGARF | c.430C>T (p.Gln144Ter) c.485C>T (p.Pro162Leu) c.31C>T (p.Gln11Ter) c.87C>T n.628C>T | |
15 | g.89333325G>C | CA393771822 | POLG,POLGARF | c.430C>G (p.Gln144Glu) c.485C>G (p.Pro162Arg) c.31C>G (p.Gln11Glu) c.87C>G n.628C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333325G>T | CA393771823 | POLG,POLGARF | c.430C>A (p.Gln144Lys) c.485C>A (p.Pro162Gln) c.31C>A (p.Gln11Lys) c.87C>A n.628C>A | gnomAD v4 |
15 | g.89333326G>A | CA492289991 | POLG,POLGARF | c.429C>T (p.Ala143=) c.484C>T (p.Pro162Ser) c.30C>T (p.Ala10=) c.86C>T n.627C>T | gnomAD v4 |
15 | g.89333326G>C | CA492289992 | POLG,POLGARF | c.429C>G (p.Ala143=) c.484C>G (p.Pro162Ala) c.30C>G (p.Ala10=) c.86C>G n.627C>G | |
15 | g.89333326G>T | CA492289993 | POLG,POLGARF | c.429C>A (p.Ala143=) c.484C>A (p.Pro162Thr) c.30C>A (p.Ala10=) c.86C>A n.627C>A | gnomAD v4 |
15 | g.89333327G>A | CA316798 | POLG,POLGARF | c.428C>T (p.Ala143Val) c.483C>T (p.Gly161=) c.29C>T (p.Ala10Val) c.85C>T n.626C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333327G>C | CA393771827 | POLG,POLGARF | c.428C>G (p.Ala143Gly) c.483C>G (p.Gly161=) c.29C>G (p.Ala10Gly) c.85C>G n.626C>G | |
15 | g.89333327G= | CA2194572118 | POLG,POLGARF | c.428C= (p.Ala143=) c.483C= (p.Gly161=) c.29C= (p.Ala10=) c.85C= n.626C= | |
15 | g.89333327G>T | CA393771834 | POLG,POLGARF | c.428C>A (p.Ala143Asp) c.483C>A (p.Gly161=) c.29C>A (p.Ala10Asp) c.85C>A n.626C>A | gnomAD v4 |
15 | g.89333328C>A | CA393771838 | POLG,POLGARF | c.427G>T (p.Ala143Ser) c.482G>T (p.Gly161Val) c.28G>T (p.Ala10Ser) c.84G>T n.625G>T | gnomAD v4 |
15 | g.89333328C= | CA2194572123 | POLG,POLGARF | c.427G= (p.Ala143=) c.482G= (p.Gly161=) c.28G= (p.Ala10=) c.84G= n.625G= | |
15 | g.89333328C>G | CA393771841 | POLG,POLGARF | c.427G>C (p.Ala143Pro) c.482G>C (p.Gly161Ala) c.28G>C (p.Ala10Pro) c.84G>C n.625G>C | |
15 | g.89333328C>T | CA393771844 | POLG,POLGARF | c.427G>A (p.Ala143Thr) c.482G>A (p.Gly161Asp) c.28G>A (p.Ala10Thr) c.84G>A n.625G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333329C>A | CA492289994 | POLG,POLGARF | c.426G>T (p.Leu142=) c.481G>T (p.Gly161Cys) c.27G>T (p.Leu9=) c.83G>T n.624G>T | gnomAD v4 |
15 | g.89333329C>G | CA492289996 | POLG,POLGARF | c.426G>C (p.Leu142=) c.481G>C (p.Gly161Arg) c.27G>C (p.Leu9=) c.83G>C n.624G>C | gnomAD v4 |
15 | g.89333329C>T | CA492289998 | POLG,POLGARF | c.426G>A (p.Leu142=) c.481G>A (p.Gly161Ser) c.27G>A (p.Leu9=) c.83G>A n.624G>A | gnomAD v4 |
15 | g.89333330A= | CA2194572130 | POLG,POLGARF | c.425T= (p.Leu142=) c.480T= (p.Pro160=) c.26T= (p.Leu9=) c.82T= n.623T= | |
15 | g.89333330A>C | CA393771847 | POLG,POLGARF | c.425T>G (p.Leu142Arg) c.480T>G (p.Pro160=) c.26T>G (p.Leu9Arg) c.82T>G n.623T>G | |
15 | g.89333330A>G | CA16621678 | POLG,POLGARF | c.425T>C (p.Leu142Pro) c.480T>C (p.Pro160=) c.26T>C (p.Leu9Pro) c.82T>C n.623T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333330A>T | CA393771851 | POLG,POLGARF | c.425T>A (p.Leu142Gln) c.480T>A (p.Pro160=) c.26T>A (p.Leu9Gln) c.82T>A n.623T>A | gnomAD v4 |
15 | g.89333331G>A | CA492290000 | POLG,POLGARF | c.424C>T (p.Leu142=) c.479C>T (p.Pro160Leu) c.25C>T (p.Leu9=) c.81C>T n.622C>T | gnomAD v4 |
15 | g.89333331G>C | CA393771855 | POLG,POLGARF | c.424C>G (p.Leu142Val) c.479C>G (p.Pro160Arg) c.25C>G (p.Leu9Val) c.81C>G n.622C>G | |
15 | g.89333331G>T | CA393771853 | POLG,POLGARF | c.424C>A (p.Leu142Met) c.479C>A (p.Pro160His) c.25C>A (p.Leu9Met) c.81C>A n.622C>A | gnomAD v4 |
15 | g.89333332G>A | CA7725114 | POLG,POLGARF | c.423C>T (p.Leu141=) c.478C>T (p.Pro160Ser) c.24C>T (p.Leu8=) c.80C>T n.621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333332G>C | CA492290002 | POLG,POLGARF | c.423C>G (p.Leu141=) c.478C>G (p.Pro160Ala) c.24C>G (p.Leu8=) c.80C>G n.621C>G | |
15 | g.89333332G= | CA2194572145 | POLG,POLGARF | c.423C= (p.Leu141=) c.478C= (p.Pro160=) c.24C= (p.Leu8=) c.80C= n.621C= | |
15 | g.89333332G>T | CA492290004 | POLG,POLGARF | c.423C>A (p.Leu141=) c.478C>A (p.Pro160Thr) c.24C>A (p.Leu8=) c.80C>A n.621C>A | gnomAD v4 |
15 | g.89333333A= | CA2194572151 | POLG,POLGARF | c.422T= (p.Leu141=) c.477T= (p.Pro159=) c.23T= (p.Leu8=) c.79T= n.620T= | |
15 | g.89333333A>C | CA393771861 | POLG,POLGARF | c.422T>G (p.Leu141Arg) c.477T>G (p.Pro159=) c.23T>G (p.Leu8Arg) c.79T>G n.620T>G | |
15 | g.89333333A>G | CA393771862 | POLG,POLGARF | c.422T>C (p.Leu141Pro) c.477T>C (p.Pro159=) c.23T>C (p.Leu8Pro) c.79T>C n.620T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333333A>T | CA393771865 | POLG,POLGARF | c.422T>A (p.Leu141His) c.477T>A (p.Pro159=) c.23T>A (p.Leu8His) c.79T>A n.620T>A | gnomAD v4 |
15 | g.89333334G>A | CA393771875 | POLG,POLGARF | c.421C>T (p.Leu141Phe) c.476C>T (p.Pro159Leu) c.22C>T (p.Leu8Phe) c.78C>T n.619C>T | ClinVar gnomAD v4 |
15 | g.89333334G>C | CA393771878 | POLG,POLGARF | c.421C>G (p.Leu141Val) c.476C>G (p.Pro159Arg) c.22C>G (p.Leu8Val) c.78C>G n.619C>G | |
15 | g.89333334G>T | CA393771881 | POLG,POLGARF | c.421C>A (p.Leu141Ile) c.476C>A (p.Pro159His) c.22C>A (p.Leu8Ile) c.78C>A n.619C>A | gnomAD v4 |
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.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 |