Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
15 | g.89333436G>A | CA492290148 | POLG,POLGARF | c.319C>T (p.Leu107=) c.374C>T (p.Pro125Leu) n.517C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333436G>C | CA393772769 | POLG,POLGARF | c.319C>G (p.Leu107Val) c.374C>G (p.Pro125Arg) n.517C>G | |
15 | g.89333436G= | CA2194572537 | POLG,POLGARF | c.319C= (p.Leu107=) c.374C= (p.Pro125=) n.517C= | |
15 | g.89333436G>T | CA393772770 | POLG,POLGARF | c.319C>A (p.Leu107Met) c.374C>A (p.Pro125His) n.517C>A | gnomAD v4 |
15 | g.89333437G>A | CA492290149 | POLG,POLGARF | c.318C>T (p.His106=) c.373C>T (p.Pro125Ser) n.516C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333437G>C | CA393772774 | POLG,POLGARF | c.318C>G (p.His106Gln) c.373C>G (p.Pro125Ala) n.516C>G | |
15 | g.89333437G= | CA2194572540 | POLG,POLGARF | c.318C= (p.His106=) c.373C= (p.Pro125=) n.516C= | |
15 | g.89333437G>T | CA393772777 | POLG,POLGARF | c.318C>A (p.His106Gln) c.373C>A (p.Pro125Thr) n.516C>A | dbSNP gnomAD v4 |
15 | g.89333438T>A | CA393772781 | POLG,POLGARF | c.317A>T (p.His106Leu) c.372A>T (p.Ala124=) n.515A>T | |
15 | g.89333438T>C | CA393772785 | POLG,POLGARF | c.317A>G (p.His106Arg) c.372A>G (p.Ala124=) n.515A>G | |
15 | g.89333438T>G | CA393772789 | POLG,POLGARF | c.317A>C (p.His106Pro) c.372A>C (p.Ala124=) n.515A>C | |
15 | g.89333439G>A | CA393772793 | POLG,POLGARF | c.316C>T (p.His106Tyr) c.371C>T (p.Ala124Val) n.514C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333439G>C | CA393772795 | POLG,POLGARF | c.316C>G (p.His106Asp) c.371C>G (p.Ala124Gly) n.514C>G | |
15 | g.89333439G= | CA2194572546 | POLG,POLGARF | c.316C= (p.His106=) c.371C= (p.Ala124=) n.514C= | |
15 | g.89333439G>T | CA393772799 | POLG,POLGARF | c.316C>A (p.His106Asn) c.371C>A (p.Ala124Glu) n.514C>A | COSMIC |
15 | g.89333440C>A | CA393772815 | POLG,POLGARF | c.315G>T (p.Glu105Asp) c.370G>T (p.Ala124Ser) n.513G>T | gnomAD v4 |
15 | g.89333440C= | CA2194572556 | POLG,POLGARF | c.315G= (p.Glu105=) c.370G= (p.Ala124=) n.513G= | |
15 | g.89333440C>G | CA393772808 | POLG,POLGARF | c.315G>C (p.Glu105Asp) c.370G>C (p.Ala124Pro) n.513G>C | |
15 | g.89333440C>T | CA492290153 | POLG,POLGARF | c.315G>A (p.Glu105=) c.370G>A (p.Ala124Thr) n.513G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333441T>A | CA393772830 | POLG,POLGARF | c.314A>T (p.Glu105Val) c.369A>T (p.Arg123=) n.512A>T | |
15 | g.89333441T>C | CA393772835 | POLG,POLGARF | c.314A>G (p.Glu105Gly) c.369A>G (p.Arg123=) n.512A>G | |
15 | g.89333441T>G | CA393772838 | POLG,POLGARF | c.314A>C (p.Glu105Ala) c.369A>C (p.Arg123=) n.512A>C | gnomAD v4 |
15 | g.89333442C>A | CA393772839 | POLG,POLGARF | c.313G>T (p.Glu105Ter) c.368G>T (p.Arg123Leu) n.511G>T | |
15 | g.89333442C= | CA2194572563 | POLG,POLGARF | c.313G= (p.Glu105=) c.368G= (p.Arg123=) n.511G= | |
15 | g.89333442C>G | CA393772840 | POLG,POLGARF | c.313G>C (p.Glu105Gln) c.368G>C (p.Arg123Pro) n.511G>C | ClinVar dbSNP |
15 | g.89333442C>T | CA274566113 | POLG,POLGARF | c.313G>A (p.Glu105Lys) c.368G>A (p.Arg123Gln) n.511G>A | dbSNP gnomAD v4 COSMIC |
15 | g.89333443G>A | CA492290155 | POLG,POLGARF | c.312C>T (p.Val104=) c.367C>T (p.Arg123Ter) n.510C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333443G>C | CA492290156 | POLG,POLGARF | c.312C>G (p.Val104=) c.367C>G (p.Arg123Gly) n.510C>G | |
15 | g.89333443G= | CA2194572568 | POLG,POLGARF | c.312C= (p.Val104=) c.367C= (p.Arg123=) n.510C= | |
15 | g.89333443G>T | CA492290157 | POLG,POLGARF | c.312C>A (p.Val104=) c.367C>A (p.Arg123=) n.510C>A | gnomAD v4 |
15 | g.89333444A>C | CA393772848 | POLG,POLGARF | c.311T>G (p.Val104Gly) c.366T>G (p.Arg122=) n.509T>G | gnomAD v4 |
15 | g.89333444A>G | CA393772851 | POLG,POLGARF | c.311T>C (p.Val104Ala) c.366T>C (p.Arg122=) n.509T>C | ClinVar |
15 | g.89333444A>T | CA393772864 | POLG,POLGARF | c.311T>A (p.Val104Asp) c.366T>A (p.Arg122=) n.509T>A | |
15 | g.89333445C>A | CA393772867 | POLG,POLGARF | c.310G>T (p.Val104Phe) c.365G>T (p.Arg122Leu) n.508G>T | |
15 | g.89333445C>G | CA393772868 | POLG,POLGARF | c.310G>C (p.Val104Leu) c.365G>C (p.Arg122Pro) n.508G>C | |
15 | g.89333445C>T | CA393772869 | POLG,POLGARF | c.310G>A (p.Val104Ile) c.365G>A (p.Arg122His) n.508G>A | gnomAD v4 |
15 | g.89333446G>A | CA7725134 | POLG,POLGARF | c.309C>T (p.Ser103=) c.364C>T (p.Arg122Cys) n.507C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333446G>C | CA393772877 | POLG,POLGARF | c.309C>G (p.Ser103Arg) c.364C>G (p.Arg122Gly) n.507C>G | gnomAD v4 |
15 | g.89333446G= | CA2194572572 | POLG,POLGARF | c.309C= (p.Ser103=) c.364C= (p.Arg122=) n.507C= | |
15 | g.89333446G>T | CA393772872 | POLG,POLGARF | c.309C>A (p.Ser103Arg) c.364C>A (p.Arg122Ser) n.507C>A | gnomAD v4 |
15 | g.89333447C>A | CA393772882 | POLG,POLGARF | c.308G>T (p.Ser103Ile) c.363G>T (p.Gln121His) n.506G>T | |
15 | g.89333447C= | CA2194572574 | POLG,POLGARF | c.308G= (p.Ser103=) c.363G= (p.Gln121=) n.506G= | |
15 | g.89333447C>G | CA7725135 | POLG,POLGARF | c.308G>C (p.Ser103Thr) c.363G>C (p.Gln121His) n.506G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333447C>T | CA393772885 | POLG,POLGARF | c.308G>A (p.Ser103Asn) c.363G>A (p.Gln121=) n.506G>A | gnomAD v4 |
15 | g.89333448T>A | CA393772886 | POLG,POLGARF | c.307A>T (p.Ser103Cys) c.362A>T (p.Gln121Leu) n.505A>T | |
15 | g.89333448T>C | CA393772890 | POLG,POLGARF | c.307A>G (p.Ser103Gly) c.362A>G (p.Gln121Arg) n.505A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333448T>G | CA393772888 | POLG,POLGARF | c.307A>C (p.Ser103Arg) c.362A>C (p.Gln121Pro) n.505A>C | |
15 | g.89333448T= | CA2194572578 | POLG,POLGARF | c.307A= (p.Ser103=) c.362A= (p.Gln121=) n.505A= | |
15 | g.89333449G>A | CA492290160 | POLG,POLGARF | c.306C>T (p.Arg102=) c.361C>T (p.Gln121Ter) n.504C>T | ClinVar gnomAD v4 |
15 | g.89333449G>C | CA492290161 | POLG,POLGARF | c.306C>G (p.Arg102=) c.361C>G (p.Gln121Glu) n.504C>G | |
15 | g.89333449G>T | CA492290162 | POLG,POLGARF | c.306C>A (p.Arg102=) c.361C>A (p.Gln121Lys) n.504C>A | gnomAD v4 |
15 | g.89333450C>A | CA393772891 | POLG,POLGARF | c.305G>T (p.Arg102Leu) c.360G>T (p.Pro120=) n.503G>T | |
15 | g.89333450C>G | CA393772892 | POLG,POLGARF | c.305G>C (p.Arg102Pro) c.360G>C (p.Pro120=) n.503G>C | |
15 | g.89333450C>T | CA393772894 | POLG,POLGARF | c.305G>A (p.Arg102His) c.360G>A (p.Pro120=) n.503G>A | gnomAD v4 |
15 | g.89333451G>A | CA393772903 | POLG,POLGARF | c.304C>T (p.Arg102Cys) c.359C>T (p.Pro120Leu) n.502C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333451G>C | CA393772906 | POLG,POLGARF | c.304C>G (p.Arg102Gly) c.359C>G (p.Pro120Arg) n.502C>G | |
15 | g.89333451G= | CA2194572586 | POLG,POLGARF | c.304C= (p.Arg102=) c.359C= (p.Pro120=) n.502C= | |
15 | g.89333451G>T | CA10602253 | POLG,POLGARF | c.304C>A (p.Arg102Ser) c.359C>A (p.Pro120Gln) n.502C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333452G>A | CA492290164 | POLG,POLGARF | c.303C>T (p.Arg101=) c.358C>T (p.Pro120Ser) n.501C>T | |
15 | g.89333452G>C | CA492290165 | POLG,POLGARF | c.303C>G (p.Arg101=) c.358C>G (p.Pro120Ala) n.501C>G | |
15 | g.89333452G>T | CA492290166 | POLG,POLGARF | c.303C>A (p.Arg101=) c.358C>A (p.Pro120Thr) n.501C>A | gnomAD v4 |
15 | g.89333453C>A | CA393772912 | POLG,POLGARF | c.302G>T (p.Arg101Leu) c.357G>T (p.Ala119=) n.500G>T | ClinVar |
15 | g.89333453C>G | CA393772915 | POLG,POLGARF | c.302G>C (p.Arg101Pro) c.357G>C (p.Ala119=) n.500G>C | gnomAD v4 |
15 | g.89333453C>T | CA393772921 | POLG,POLGARF | c.302G>A (p.Arg101His) c.357G>A (p.Ala119=) n.500G>A | gnomAD v4 |
15 | g.89333454G>A | CA7725136 | POLG,POLGARF | c.301C>T (p.Arg101Cys) c.356C>T (p.Ala119Val) n.499C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333454G>C | CA393772934 | POLG,POLGARF | c.301C>G (p.Arg101Gly) c.356C>G (p.Ala119Gly) n.499C>G | |
15 | g.89333454G= | CA2194572593 | POLG,POLGARF | c.301C= (p.Arg101=) c.356C= (p.Ala119=) n.499C= | |
15 | g.89333454G>T | CA393772937 | POLG,POLGARF | c.301C>A (p.Arg101Ser) c.356C>A (p.Ala119Glu) n.499C>A | gnomAD v4 |
15 | g.89333455C>A | CA492290169 | POLG,POLGARF | c.300G>T (p.Val100=) c.355G>T (p.Ala119Ser) n.498G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333455C>G | CA492290172 | POLG,POLGARF | c.300G>C (p.Val100=) c.355G>C (p.Ala119Pro) n.498G>C | |
15 | g.89333455C>T | CA492290171 | POLG,POLGARF | c.300G>A (p.Val100=) c.355G>A (p.Ala119Thr) n.498G>A | gnomAD v4 |
15 | g.89333456A>C | CA393772944 | POLG,POLGARF | c.299T>G (p.Val100Gly) c.354T>G (p.Gly118=) n.497T>G | |
15 | g.89333456A>G | CA393772948 | POLG,POLGARF | c.299T>C (p.Val100Ala) c.354T>C (p.Gly118=) n.497T>C | |
15 | g.89333456A>T | CA393772946 | POLG,POLGARF | c.299T>A (p.Val100Glu) c.354T>A (p.Gly118=) n.497T>A | |
15 | g.89333457C>A | CA393772955 | POLG,POLGARF | c.298G>T (p.Val100Leu) c.353G>T (p.Gly118Val) n.496G>T | |
15 | g.89333457C>G | CA393772961 | POLG,POLGARF | c.298G>C (p.Val100Leu) c.353G>C (p.Gly118Ala) n.496G>C | |
15 | g.89333457C>T | CA393772966 | POLG,POLGARF | c.298G>A (p.Val100Met) c.353G>A (p.Gly118Asp) n.496G>A | gnomAD v4 |
15 | g.89333458C>A | CA492290174 | POLG,POLGARF | c.297G>T (p.Ala99=) c.352G>T (p.Gly118Cys) n.495G>T | |
15 | g.89333458C= | CA2194572602 | POLG,POLGARF | c.297G= (p.Ala99=) c.352G= (p.Gly118=) n.495G= | |
15 | g.89333458C>G | CA492290175 | POLG,POLGARF | c.297G>C (p.Ala99=) c.352G>C (p.Gly118Arg) n.495G>C | |
15 | g.89333458C>T | CA274566124 | POLG,POLGARF | c.297G>A (p.Ala99=) c.352G>A (p.Gly118Ser) n.495G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333460_89333461del | CA2843304776 | POLG,POLGARF | c.296_297del (p.Ala99GlyfsTer?) c.351_352del (p.Gly118CysfsTer?) n.494_495del | |
15 | g.89333459G>A | CA393772968 | POLG,POLGARF | c.296C>T (p.Ala99Val) c.351C>T (p.Arg117=) n.494C>T | gnomAD v4 COSMIC |
15 | g.89333459G>C | CA393772969 | POLG,POLGARF | c.296C>G (p.Ala99Gly) c.351C>G (p.Arg117=) n.494C>G | |
15 | g.89333459G>T | CA393772970 | POLG,POLGARF | c.296C>A (p.Ala99Glu) c.351C>A (p.Arg117=) n.494C>A | |
15 | g.89333460C>A | CA393772973 | POLG,POLGARF | c.295G>T (p.Ala99Ser) c.350G>T (p.Arg117Leu) n.493G>T | |
15 | g.89333460C= | CA2194572610 | POLG,POLGARF | c.295G= (p.Ala99=) c.350G= (p.Arg117=) n.493G= | |
15 | g.89333460C>G | CA393772976 | POLG,POLGARF | c.295G>C (p.Ala99Pro) c.350G>C (p.Arg117Pro) n.493G>C | |
15 | g.89333460C>T | CA393772981 | POLG,POLGARF | c.295G>A (p.Ala99Thr) c.350G>A (p.Arg117His) n.493G>A | dbSNP gnomAD v4 |
15 | g.89333461G>A | CA492290179 | POLG,POLGARF | c.294C>T (p.Ala98=) c.349C>T (p.Arg117Cys) n.492C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333461G>C | CA492290181 | POLG,POLGARF | c.294C>G (p.Ala98=) c.349C>G (p.Arg117Gly) n.492C>G | gnomAD v4 |
15 | g.89333461G= | CA2194572615 | POLG,POLGARF | c.294C= (p.Ala98=) c.349C= (p.Arg117=) n.492C= | |
15 | g.89333461G>T | CA492290180 | POLG,POLGARF | c.294C>A (p.Ala98=) c.349C>A (p.Arg117Ser) n.492C>A | gnomAD v4 |
15 | g.89333462G>A | CA393772990 | POLG,POLGARF | c.293C>T (p.Ala98Val) c.348C>T (p.Gly116=) n.491C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333462G>C | CA393772987 | POLG,POLGARF | c.293C>G (p.Ala98Gly) c.348C>G (p.Gly116=) n.491C>G | |
15 | g.89333462G= | CA2194572620 | POLG,POLGARF | c.293C= (p.Ala98=) c.348C= (p.Gly116=) n.491C= | |
15 | g.89333462G>T | CA393772985 | POLG,POLGARF | c.293C>A (p.Ala98Asp) c.348C>A (p.Gly116=) n.491C>A | gnomAD v4 |
15 | g.89333463C>A | CA393772996 | POLG,POLGARF | c.292G>T (p.Ala98Ser) c.347G>T (p.Gly116Val) n.490G>T | |
15 | g.89333463C= | CA2194572627 | POLG,POLGARF | c.292G= (p.Ala98=) c.347G= (p.Gly116=) n.490G= | |
15 | g.89333463C>G | CA393772998 | POLG,POLGARF | c.292G>C (p.Ala98Pro) c.347G>C (p.Gly116Ala) n.490G>C | gnomAD v4 |
15 | g.89333463C>T | CA393773000 | POLG,POLGARF | c.292G>A (p.Ala98Thr) c.347G>A (p.Gly116Asp) n.490G>A | dbSNP gnomAD v2 COSMIC |
15 | g.89333464C>A | CA7725137 | POLG,POLGARF | c.291G>T (p.Glu97Asp) c.346G>T (p.Gly116Cys) n.489G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333464C= | CA2194572633 | POLG,POLGARF | c.291G= (p.Glu97=) c.346G= (p.Gly116=) n.489G= | |
15 | g.89333464C>G | CA393773007 | POLG,POLGARF | c.291G>C (p.Glu97Asp) c.346G>C (p.Gly116Arg) n.489G>C | |
15 | g.89333464C>T | CA492290186 | POLG,POLGARF | c.291G>A (p.Glu97=) c.346G>A (p.Gly116Ser) n.489G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333465T>A | CA393773011 | POLG,POLGARF | c.290A>T (p.Glu97Val) c.345A>T (p.Arg115=) n.488A>T | |
15 | g.89333465T>C | CA393773014 | POLG,POLGARF | c.290A>G (p.Glu97Gly) c.345A>G (p.Arg115=) n.488A>G | gnomAD v4 |
15 | g.89333465T>G | CA393773015 | POLG,POLGARF | c.290A>C (p.Glu97Ala) c.345A>C (p.Arg115=) n.488A>C | |
15 | g.89333466C>A | CA393773017 | POLG,POLGARF | c.289G>T (p.Glu97Ter) c.344G>T (p.Arg115Leu) n.487G>T | |
15 | g.89333466C>G | CA393773019 | POLG,POLGARF | c.289G>C (p.Glu97Gln) c.344G>C (p.Arg115Pro) n.487G>C | |
15 | g.89333466C>T | CA393773023 | POLG,POLGARF | c.289G>A (p.Glu97Lys) c.344G>A (p.Arg115Gln) n.487G>A | |
15 | g.89333467G>A | CA492290191 | POLG,POLGARF | c.288C>T (p.Gly96=) c.343C>T (p.Arg115Ter) n.486C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333467G>C | CA7725138 | POLG,POLGARF | c.288C>G (p.Gly96=) c.343C>G (p.Arg115Gly) n.486C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333467G= | CA2194572643 | POLG,POLGARF | c.288C= (p.Gly96=) c.343C= (p.Arg115=) n.486C= | |
15 | g.89333467G>T | CA492290192 | POLG,POLGARF | c.288C>A (p.Gly96=) c.343C>A (p.Arg115=) n.486C>A | gnomAD v4 |
15 | g.89333468C>A | CA393773037 | POLG,POLGARF | c.287G>T (p.Gly96Val) c.342G>T (p.Trp114Cys) n.485G>T | |
15 | g.89333468C>G | CA393773030 | POLG,POLGARF | c.287G>C (p.Gly96Ala) c.342G>C (p.Trp114Cys) n.485G>C | |
15 | g.89333468C>T | CA393773031 | POLG,POLGARF | c.287G>A (p.Gly96Asp) c.342G>A (p.Trp114Ter) n.485G>A | |
15 | g.89333469del | CA2573151275 | POLG,POLGARF | c.287del (p.Gly96AlafsTer?) c.342del (p.Trp114CysfsTer?) n.485del | ClinVar dbSNP |
15 | g.89333469C>A | CA393773040 | POLG,POLGARF | c.286G>T (p.Gly96Cys) c.341G>T (p.Trp114Leu) n.484G>T | |
15 | g.89333469C>G | CA393773045 | POLG,POLGARF | c.286G>C (p.Gly96Arg) c.341G>C (p.Trp114Ser) n.484G>C | |
15 | g.89333469C>T | CA393773047 | POLG,POLGARF | c.286G>A (p.Gly96Ser) c.341G>A (p.Trp114Ter) n.484G>A | |
15 | g.89333470A>C | CA492290201 | POLG,POLGARF | c.285T>G (p.Pro95=) c.340T>G (p.Trp114Gly) n.483T>G | |
15 | g.89333470A>G | CA492290199 | POLG,POLGARF | c.285T>C (p.Pro95=) c.340T>C (p.Trp114Arg) n.483T>C | |
15 | g.89333470A>T | CA492290200 | POLG,POLGARF | c.285T>A (p.Pro95=) c.340T>A (p.Trp114Arg) n.483T>A | |
15 | g.89333471G>A | CA274566160 | POLG,POLGARF | c.284C>T (p.Pro95Leu) c.339C>T (p.Ala113=) n.482C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333471G>C | CA7725139 | POLG,POLGARF | c.284C>G (p.Pro95Arg) c.339C>G (p.Ala113=) n.482C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333471G= | CA2194572646 | POLG,POLGARF | c.284C= (p.Pro95=) c.339C= (p.Ala113=) n.482C= | |
15 | g.89333471G>T | CA393773058 | POLG,POLGARF | c.284C>A (p.Pro95His) c.339C>A (p.Ala113=) n.482C>A | gnomAD v4 |
15 | g.89333472G>A | CA393773060 | POLG,POLGARF | c.283C>T (p.Pro95Ser) c.338C>T (p.Ala113Val) n.481C>T | |
15 | g.89333472G>C | CA393773063 | POLG,POLGARF | c.283C>G (p.Pro95Ala) c.338C>G (p.Ala113Gly) n.481C>G | |
15 | g.89333472G>T | CA393773064 | POLG,POLGARF | c.283C>A (p.Pro95Thr) c.338C>A (p.Ala113Asp) n.481C>A | ClinVar gnomAD v4 |
15 | g.89333473C>A | CA7725140 | POLG,POLGARF | c.282G>T (p.Met94Ile) c.337G>T (p.Ala113Ser) n.480G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333473C= | CA2194572659 | POLG,POLGARF | c.282G= (p.Met94=) c.337G= (p.Ala113=) n.480G= | |
15 | g.89333473C>G | CA393773070 | POLG,POLGARF | c.282G>C (p.Met94Ile) c.337G>C (p.Ala113Pro) n.480G>C | |
15 | g.89333473C>T | CA7725141 | POLG,POLGARF | c.282G>A (p.Met94Ile) c.337G>A (p.Ala113Thr) n.480G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333474A>C | CA393773077 | POLG,POLGARF | c.281T>G (p.Met94Arg) c.336T>G (p.Asp112Glu) n.479T>G | |
15 | g.89333474A>G | CA393773079 | POLG,POLGARF | c.281T>C (p.Met94Thr) c.336T>C (p.Asp112=) n.479T>C | |
15 | g.89333474A>T | CA393773074 | POLG,POLGARF | c.281T>A (p.Met94Lys) c.336T>A (p.Asp112Glu) n.479T>A | |
15 | g.89333475T>A | CA7725142 | POLG,POLGARF | c.280A>T (p.Met94Leu) c.335A>T (p.Asp112Val) n.478A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333475T>C | CA393773084 | POLG,POLGARF | c.280A>G (p.Met94Val) c.335A>G (p.Asp112Gly) n.478A>G | |
15 | g.89333475T>G | CA393773086 | POLG,POLGARF | c.280A>C (p.Met94Leu) c.335A>C (p.Asp112Ala) n.478A>C | |
15 | g.89333475T= | CA2194572671 | POLG,POLGARF | c.280A= (p.Met94=) c.335A= (p.Asp112=) n.478A= | |
15 | g.89333476C>A | CA393773091 | POLG,POLGARF | c.279G>T (p.Glu93Asp) c.334G>T (p.Asp112Tyr) n.477G>T | gnomAD v4 |
15 | g.89333476C= | CA2194572675 | POLG,POLGARF | c.279G= (p.Glu93=) c.334G= (p.Asp112=) n.477G= | |
15 | g.89333476C>G | CA393773092 | POLG,POLGARF | c.279G>C (p.Glu93Asp) c.334G>C (p.Asp112His) n.477G>C | |
15 | g.89333476C>T | CA492290218 | POLG,POLGARF | c.279G>A (p.Glu93=) c.334G>A (p.Asp112Asn) n.477G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333477T>A | CA393773093 | POLG,POLGARF | c.278A>T (p.Glu93Val) c.333A>T (p.Gly111=) n.476A>T | |
15 | g.89333477T>C | CA393773094 | POLG,POLGARF | c.278A>G (p.Glu93Gly) c.333A>G (p.Gly111=) n.476A>G | |
15 | g.89333477T>G | CA393773096 | POLG,POLGARF | c.278A>C (p.Glu93Ala) c.333A>C (p.Gly111=) n.476A>C | |
15 | g.89333478C>A | CA393773099 | POLG,POLGARF | c.277G>T (p.Glu93Ter) c.332G>T (p.Gly111Val) n.475G>T | |
15 | g.89333478C>G | CA393773103 | POLG,POLGARF | c.277G>C (p.Glu93Gln) c.332G>C (p.Gly111Ala) n.475G>C | |
15 | g.89333478C>T | CA393773105 | POLG,POLGARF | c.277G>A (p.Glu93Lys) c.332G>A (p.Gly111Glu) n.475G>A | |
15 | g.89333481del | CA2630256939 | POLG,POLGARF | c.277del (p.Glu93ArgfsTer?) c.332del (p.Gly111GlufsTer?) n.475del | gnomAD v4 |
15 | g.89333479C>A | CA492290227 | POLG,POLGARF | c.276G>T (p.Gly92=) c.331G>T (p.Gly111Ter) n.474G>T | |
15 | g.89333479C= | CA2194572680 | POLG,POLGARF | c.276G= (p.Gly92=) c.331G= (p.Gly111=) n.474G= | |
15 | g.89333479C>G | CA492290229 | POLG,POLGARF | c.276G>C (p.Gly92=) c.331G>C (p.Gly111Arg) n.474G>C | |
15 | g.89333479C>T | CA274566187 | POLG,POLGARF | c.276G>A (p.Gly92=) c.331G>A (p.Gly111Arg) n.474G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333480C>A | CA393773110 | POLG,POLGARF | c.275G>T (p.Gly92Val) c.330G>T (p.Arg110Ser) n.473G>T | gnomAD v4 |
15 | g.89333480C= | CA2194572683 | POLG,POLGARF | c.275G= (p.Gly92=) c.330G= (p.Arg110=) n.473G= | |
15 | g.89333480C>G | CA393773111 | POLG,POLGARF | c.275G>C (p.Gly92Ala) c.330G>C (p.Arg110Ser) n.473G>C | dbSNP |
15 | g.89333480C>T | CA393773116 | POLG,POLGARF | c.275G>A (p.Gly92Glu) c.330G>A (p.Arg110=) n.473G>A | dbSNP gnomAD v4 |
15 | g.89333481C>A | CA393773119 | POLG,POLGARF | c.274G>T (p.Gly92Trp) c.329G>T (p.Arg110Met) n.472G>T | gnomAD v4 |
15 | g.89333481C= | CA2194572694 | POLG,POLGARF | c.274G= (p.Gly92=) c.329G= (p.Arg110=) n.472G= | |
15 | g.89333481C>G | CA393773128 | POLG,POLGARF | c.274G>C (p.Gly92Arg) c.329G>C (p.Arg110Thr) n.472G>C | ClinVar dbSNP |
15 | g.89333481C>T | CA7725143 | POLG,POLGARF | c.274G>A (p.Gly92Arg) c.329G>A (p.Arg110Lys) n.472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333482T>A | CA492290234 | POLG,POLGARF | c.273A>T (p.Gly91=) c.328A>T (p.Arg110Trp) n.471A>T | |
15 | g.89333482T>C | CA492290237 | POLG,POLGARF | c.273A>G (p.Gly91=) c.328A>G (p.Arg110Gly) n.471A>G | ClinVar dbSNP |
15 | g.89333482T>G | CA492290236 | POLG,POLGARF | c.273A>C (p.Gly91=) c.328A>C (p.Arg110=) n.471A>C | |
15 | g.89333482T= | CA2194572697 | POLG,POLGARF | c.273A= (p.Gly91=) c.328A= (p.Arg110=) n.471A= | |
15 | g.89333483C>A | CA393773133 | POLG,POLGARF | c.272G>T (p.Gly91Val) c.327G>T (p.Arg109Ser) n.470G>T | gnomAD v4 |
15 | g.89333483C>G | CA393773135 | POLG,POLGARF | c.272G>C (p.Gly91Ala) c.327G>C (p.Arg109Ser) n.470G>C | |
15 | g.89333483C>T | CA393773137 | POLG,POLGARF | c.272G>A (p.Gly91Glu) c.327G>A (p.Arg109=) n.470G>A | gnomAD v4 |
15 | g.89333484C>A | CA393773141 | POLG,POLGARF | c.271G>T (p.Gly91Ter) c.326G>T (p.Arg109Met) n.469G>T | |
15 | g.89333484C>G | CA393773143 | POLG,POLGARF | c.271G>C (p.Gly91Arg) c.326G>C (p.Arg109Thr) n.469G>C | |
15 | g.89333484C>T | CA393773147 | POLG,POLGARF | c.271G>A (p.Gly91Arg) c.326G>A (p.Arg109Lys) n.469G>A | gnomAD v4 COSMIC |
15 | g.89333485T>A | CA393773150 | POLG,POLGARF | c.270A>T (p.Gln90His) c.325A>T (p.Arg109Trp) n.468A>T | |
15 | g.89333485T>C | CA492290241 | POLG,POLGARF | c.270A>G (p.Gln90=) c.325A>G (p.Arg109Gly) n.468A>G | |
15 | g.89333485T>G | CA7725144 | POLG,POLGARF | c.270A>C (p.Gln90His) c.325A>C (p.Arg109=) n.468A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333485T= | CA2194572701 | POLG,POLGARF | c.270A= (p.Gln90=) c.325A= (p.Arg109=) n.468A= | |
15 | g.89333486T>A | CA393773156 | POLG,POLGARF | c.269A>T (p.Gln90Leu) c.324A>T (p.Ala108=) n.467A>T | |
15 | g.89333486T>C | CA316792 | POLG,POLGARF | c.269A>G (p.Gln90Arg) c.324A>G (p.Ala108=) n.467A>G | dbSNP gnomAD v4 |
15 | g.89333486T>G | CA393773161 | POLG,POLGARF | c.269A>C (p.Gln90Pro) c.324A>C (p.Ala108=) n.467A>C | |
15 | g.89333486T= | CA2194572706 | POLG,POLGARF | c.269A= (p.Gln90=) c.324A= (p.Ala108=) n.467A= | |
15 | g.89333487G>A | CA393773171 | POLG,POLGARF | c.268C>T (p.Gln90Ter) c.323C>T (p.Ala108Val) n.466C>T | ClinVar dbSNP |
15 | g.89333487G>C | CA393773172 | POLG,POLGARF | c.268C>G (p.Gln90Glu) c.323C>G (p.Ala108Gly) n.466C>G | COSMIC |
15 | g.89333487G= | CA2194572711 | POLG,POLGARF | c.268C= (p.Gln90=) c.323C= (p.Ala108=) n.466C= | |
15 | g.89333487G>T | CA393773165 | POLG,POLGARF | c.268C>A (p.Gln90Lys) c.323C>A (p.Ala108Glu) n.466C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333491_89333511del | CA2630256940 | POLG,POLGARF | c.248_268del (p.Leu83_Gly89del) c.303_323del (p.Ala102_Ala108del) n.446_466del | gnomAD v4 |
15 | g.89333488C>A | CA492290247 | POLG,POLGARF | c.267G>T (p.Gly89=) c.322G>T (p.Ala108Ser) n.465G>T | |
15 | g.89333488C= | CA2194572714 | POLG,POLGARF | c.267G= (p.Gly89=) c.322G= (p.Ala108=) n.465G= | |
15 | g.89333488C>G | CA492290248 | POLG,POLGARF | c.267G>C (p.Gly89=) c.322G>C (p.Ala108Pro) n.465G>C | |
15 | g.89333488C>T | CA492290249 | POLG,POLGARF | c.267G>A (p.Gly89=) c.322G>A (p.Ala108Thr) n.465G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333489C>A | CA393773174 | POLG,POLGARF | c.266G>T (p.Gly89Val) c.321G>T (p.Arg107=) n.464G>T | |
15 | g.89333489C>G | CA393773176 | POLG,POLGARF | c.266G>C (p.Gly89Ala) c.321G>C (p.Arg107=) n.464G>C | |
15 | g.89333489C>T | CA393773180 | POLG,POLGARF | c.266G>A (p.Gly89Glu) c.321G>A (p.Arg107=) n.464G>A | |
15 | g.89333490C>A | CA393773184 | POLG,POLGARF | c.265G>T (p.Gly89Trp) c.320G>T (p.Arg107Leu) n.463G>T | |
15 | g.89333490C= | CA2194572718 | POLG,POLGARF | c.265G= (p.Gly89=) c.320G= (p.Arg107=) n.463G= | |
15 | g.89333490C>G | CA393773186 | POLG,POLGARF | c.265G>C (p.Gly89Arg) c.320G>C (p.Arg107Pro) n.463G>C | gnomAD v4 |
15 | g.89333490C>T | CA274566209 | POLG,POLGARF | c.265G>A (p.Gly89Arg) c.320G>A (p.Arg107Gln) n.463G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333491G>A | CA288984 | POLG,POLGARF | c.264C>T (p.Phe88=) c.319C>T (p.Arg107Trp) n.462C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333491G>C | CA7725145 | POLG,POLGARF | c.264C>G (p.Phe88Leu) c.319C>G (p.Arg107Gly) n.462C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333491G= | CA2194572722 | POLG,POLGARF | c.264C= (p.Phe88=) c.319C= (p.Arg107=) n.462C= | |
15 | g.89333491G>T | CA393773194 | POLG,POLGARF | c.264C>A (p.Phe88Leu) c.319C>A (p.Arg107=) n.462C>A | gnomAD v4 |
15 | g.89333492A>C | CA393773197 | POLG,POLGARF | c.263T>G (p.Phe88Cys) c.318T>G (p.Leu106=) n.461T>G | gnomAD v4 |
15 | g.89333492A>G | CA393773199 | POLG,POLGARF | c.263T>C (p.Phe88Ser) c.318T>C (p.Leu106=) n.461T>C | gnomAD v4 |
15 | g.89333492A>T | CA393773201 | POLG,POLGARF | c.263T>A (p.Phe88Tyr) c.318T>A (p.Leu106=) n.461T>A | |
15 | g.89333493A>C | CA393773204 | POLG,POLGARF | c.262T>G (p.Phe88Val) c.317T>G (p.Leu106Arg) n.460T>G | |
15 | g.89333493A>G | CA393773206 | POLG,POLGARF | c.262T>C (p.Phe88Leu) c.317T>C (p.Leu106Pro) n.460T>C | |
15 | g.89333493A>T | CA393773209 | POLG,POLGARF | c.262T>A (p.Phe88Ile) c.317T>A (p.Leu106His) n.460T>A | |
15 | g.89333494G>A | CA492290258 | POLG,POLGARF | c.261C>T (p.Ile87=) c.316C>T (p.Leu106Phe) n.459C>T | dbSNP |
15 | g.89333494G>C | CA393773214 | POLG,POLGARF | c.261C>G (p.Ile87Met) c.316C>G (p.Leu106Val) n.459C>G | |
15 | g.89333494G= | CA2194572726 | POLG,POLGARF | c.261C= (p.Ile87=) c.316C= (p.Leu106=) n.459C= | |
15 | g.89333494G>T | CA7725146 | POLG,POLGARF | c.261C>A (p.Ile87=) c.316C>A (p.Leu106Ile) n.459C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333495A= | CA2194572731 | POLG,POLGARF | c.260T= (p.Ile87=) c.315T= (p.Asn105=) n.458T= | |
15 | g.89333495A>C | CA393773220 | POLG,POLGARF | c.260T>G (p.Ile87Ser) c.315T>G (p.Asn105Lys) n.458T>G | |
15 | g.89333495A>G | CA7725147 | POLG,POLGARF | c.260T>C (p.Ile87Thr) c.315T>C (p.Asn105=) n.458T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333495A>T | CA393773223 | POLG,POLGARF | c.260T>A (p.Ile87Asn) c.315T>A (p.Asn105Lys) n.458T>A | |
15 | g.89333496T>A | CA393773227 | POLG,POLGARF | c.259A>T (p.Ile87Phe) c.314A>T (p.Asn105Ile) n.457A>T | |
15 | g.89333496T>C | CA393773228 | POLG,POLGARF | c.259A>G (p.Ile87Val) c.314A>G (p.Asn105Ser) n.457A>G | |
15 | g.89333496T>G | CA393773229 | POLG,POLGARF | c.259A>C (p.Ile87Leu) c.314A>C (p.Asn105Thr) n.457A>C | |
15 | g.89333497T>A | CA393773232 | POLG,POLGARF | c.258A>T (p.Gln86His) c.313A>T (p.Asn105Tyr) n.456A>T | |
15 | g.89333497T>C | CA492290264 | POLG,POLGARF | c.258A>G (p.Gln86=) c.313A>G (p.Asn105Asp) n.456A>G | gnomAD v4 |
15 | g.89333497T>G | CA7725148 | POLG,POLGARF | c.258A>C (p.Gln86His) c.313A>C (p.Asn105His) n.456A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333497T= | CA2194572741 | POLG,POLGARF | c.258A= (p.Gln86=) c.313A= (p.Asn105=) n.456A= | |
15 | g.89333498T>A | CA393773239 | POLG,POLGARF | c.257A>T (p.Gln86Leu) c.312A>T (p.Ala104=) n.455A>T | |
15 | g.89333498T>C | CA393773243 | POLG,POLGARF | c.257A>G (p.Gln86Arg) c.312A>G (p.Ala104=) n.455A>G | |
15 | g.89333498T>G | CA393773244 | POLG,POLGARF | c.257A>C (p.Gln86Pro) c.312A>C (p.Ala104=) n.455A>C | ClinVar |
15 | g.89333499G>A | CA393773248 | POLG,POLGARF | c.256C>T (p.Gln86Ter) c.311C>T (p.Ala104Val) n.454C>T | |
15 | g.89333499G>C | CA393773250 | POLG,POLGARF | c.256C>G (p.Gln86Glu) c.311C>G (p.Ala104Gly) n.454C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333499G>T | CA393773253 | POLG,POLGARF | c.256C>A (p.Gln86Lys) c.311C>A (p.Ala104Glu) n.454C>A | |
15 | g.89333500C>A | CA393773258 | POLG,POLGARF | c.255G>T (p.Glu85Asp) c.310G>T (p.Ala104Ser) n.453G>T | |
15 | g.89333500C= | CA2194572752 | POLG,POLGARF | c.255G= (p.Glu85=) c.310G= (p.Ala104=) n.453G= | |
15 | g.89333500C>G | CA393773256 | POLG,POLGARF | c.255G>C (p.Glu85Asp) c.310G>C (p.Ala104Pro) n.453G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333500C>T | CA492290270 | POLG,POLGARF | c.255G>A (p.Glu85=) c.310G>A (p.Ala104Thr) n.453G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333501T>A | CA393773259 | POLG,POLGARF | c.254A>T (p.Glu85Val) c.309A>T (p.Arg103=) n.452A>T | |
15 | g.89333501T>C | CA393773263 | POLG,POLGARF | c.254A>G (p.Glu85Gly) c.309A>G (p.Arg103=) n.452A>G | gnomAD v4 |
15 | g.89333501T>G | CA393773260 | POLG,POLGARF | c.254A>C (p.Glu85Ala) c.309A>C (p.Arg103=) n.452A>C | |
15 | g.89333502C>A | CA393773267 | POLG,POLGARF | c.253G>T (p.Glu85Ter) c.308G>T (p.Arg103Leu) n.451G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333502C= | CA2194572758 | POLG,POLGARF | c.253G= (p.Glu85=) c.308G= (p.Arg103=) n.451G= | |
15 | g.89333502C>G | CA393773274 | POLG,POLGARF | c.253G>C (p.Glu85Gln) c.308G>C (p.Arg103Pro) n.451G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333502C>T | CA393773269 | POLG,POLGARF | c.253G>A (p.Glu85Lys) c.308G>A (p.Arg103Gln) n.451G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.89333503G>A | CA492290275 | POLG,POLGARF | c.252C>T (p.His84=) c.307C>T (p.Arg103Ter) n.450C>T | dbSNP gnomAD v4 |
15 | g.89333503G>C | CA393773279 | POLG,POLGARF | c.252C>G (p.His84Gln) c.307C>G (p.Arg103Gly) n.450C>G | dbSNP gnomAD v4 |
15 | g.89333503G= | CA2194572763 | POLG,POLGARF | c.252C= (p.His84=) c.307C= (p.Arg103=) n.450C= | |
15 | g.89333503G>T | CA393773282 | POLG,POLGARF | c.252C>A (p.His84Gln) c.307C>A (p.Arg103=) n.450C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333504T>A | CA393773286 | POLG,POLGARF | c.251A>T (p.His84Leu) c.306A>T (p.Ala102=) n.449A>T | |
15 | g.89333504T>C | CA7725149 | POLG,POLGARF | c.251A>G (p.His84Arg) c.306A>G (p.Ala102=) n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333504T>G | CA393773291 | POLG,POLGARF | c.251A>C (p.His84Pro) c.306A>C (p.Ala102=) n.449A>C | |
15 | g.89333504T= | CA2194572769 | POLG,POLGARF | c.251A= (p.His84=) c.306A= (p.Ala102=) n.449A= | |
15 | g.89333505G>A | CA393773292 | POLG,POLGARF | c.250C>T (p.His84Tyr) c.305C>T (p.Ala102Val) n.448C>T | gnomAD v4 |
15 | g.89333505G>C | CA393773294 | POLG,POLGARF | c.250C>G (p.His84Asp) c.305C>G (p.Ala102Gly) n.448C>G | |
15 | g.89333505G>T | CA393773296 | POLG,POLGARF | c.250C>A (p.His84Asn) c.305C>A (p.Ala102Glu) n.448C>A | |
15 | g.89333506C>A | CA492290282 | POLG,POLGARF | c.249G>T (p.Leu83=) c.304G>T (p.Ala102Ser) n.447G>T | |
15 | g.89333506C= | CA2194572772 | POLG,POLGARF | c.249G= (p.Leu83=) c.304G= (p.Ala102=) n.447G= | |
15 | g.89333506C>G | CA274566234 | POLG,POLGARF | c.249G>C (p.Leu83=) c.304G>C (p.Ala102Pro) n.447G>C | ClinVar dbSNP gnomAD v4 |
15 | g.89333506C>T | CA492290284 | POLG,POLGARF | c.249G>A (p.Leu83=) c.304G>A (p.Ala102Thr) n.447G>A | gnomAD v4 COSMIC |
15 | g.89333507A= | CA2194572805 | POLG,POLGARF | c.248T= (p.Leu83=) c.303T= (p.Ala101=) n.446T= | |
15 | g.89333507A>C | CA393773298 | POLG,POLGARF | c.248T>G (p.Leu83Arg) c.303T>G (p.Ala101=) n.446T>G | |
15 | g.89333507A>G | CA10602229 | POLG,POLGARF | c.248T>C (p.Leu83Pro) c.303T>C (p.Ala101=) n.446T>C | ClinVar dbSNP gnomAD v4 |
15 | g.89333507A>T | CA393773299 | POLG,POLGARF | c.248T>A (p.Leu83Gln) c.303T>A (p.Ala101=) n.446T>A | |
15 | g.89333508G>A | CA492290286 | POLG,POLGARF | c.247C>T (p.Leu83=) c.302C>T (p.Ala101Val) n.445C>T | gnomAD v4 |
15 | g.89333508G>C | CA393773300 | POLG,POLGARF | c.247C>G (p.Leu83Val) c.302C>G (p.Ala101Gly) n.445C>G | |
15 | g.89333508G>T | CA393773302 | POLG,POLGARF | c.247C>A (p.Leu83Met) c.302C>A (p.Ala101Asp) n.445C>A | gnomAD v4 |
15 | g.89333509C>A | CA492290287 | POLG,POLGARF | c.246G>T (p.Gly82=) c.301G>T (p.Ala101Ser) n.444G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333509C= | CA2194572818 | POLG,POLGARF | c.246G= (p.Gly82=) c.301G= (p.Ala101=) n.444G= | |
15 | g.89333509C>G | CA492290288 | POLG,POLGARF | c.246G>C (p.Gly82=) c.301G>C (p.Ala101Pro) n.444G>C | |
15 | g.89333509C>T | CA492290291 | POLG,POLGARF | c.246G>A (p.Gly82=) c.301G>A (p.Ala101Thr) n.444G>A | dbSNP |
15 | g.89333510C>A | CA393773305 | POLG,POLGARF | c.245G>T (p.Gly82Val) c.300G>T (p.Arg100Ser) n.443G>T | |
15 | g.89333510C= | CA2194572824 | POLG,POLGARF | c.245G= (p.Gly82=) c.300G= (p.Arg100=) n.443G= | |
15 | g.89333510C>G | CA393773309 | POLG,POLGARF | c.245G>C (p.Gly82Ala) c.300G>C (p.Arg100Ser) n.443G>C | |
15 | g.89333510C>T | CA393773306 | POLG,POLGARF | c.245G>A (p.Gly82Glu) c.300G>A (p.Arg100=) n.443G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333511C>A | CA7725150 | POLG,POLGARF | c.244G>T (p.Gly82Trp) c.299G>T (p.Arg100Met) n.442G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333511C= | CA2194572832 | POLG,POLGARF | c.244G= (p.Gly82=) c.299G= (p.Arg100=) n.442G= | |
15 | g.89333511C>G | CA7725151 | POLG,POLGARF | c.244G>C (p.Gly82Arg) c.299G>C (p.Arg100Thr) n.442G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.89333511C>T | CA393773316 | POLG,POLGARF | c.244G>A (p.Gly82Arg) c.299G>A (p.Arg100Lys) n.442G>A | ClinVar dbSNP |
15 | g.89333512T>A | CA393773318 | POLG,POLGARF | c.243A>T (p.Arg81Ser) c.298A>T (p.Arg100Trp) n.441A>T | |
15 | g.89333512T>C | CA492290294 | POLG,POLGARF | c.243A>G (p.Arg81=) c.298A>G (p.Arg100Gly) n.441A>G | dbSNP |
15 | g.89333512T>G | CA393773319 | POLG,POLGARF | c.243A>C (p.Arg81Ser) c.298A>C (p.Arg100=) n.441A>C | |
15 | g.89333512T= | CA2194572839 | POLG,POLGARF | c.243A= (p.Arg81=) c.298A= (p.Arg100=) n.441A= | |
15 | g.89333513C>A | CA393773322 | POLG,POLGARF | c.242G>T (p.Arg81Ile) c.297G>T (p.Glu99Asp) n.440G>T | |
15 | g.89333513C= | CA2194572843 | POLG,POLGARF | c.242G= (p.Arg81=) c.297G= (p.Glu99=) n.440G= | |
15 | g.89333513C>G | CA393773323 | POLG,POLGARF | c.242G>C (p.Arg81Thr) c.297G>C (p.Glu99Asp) n.440G>C | dbSNP gnomAD v2 |
15 | g.89333513C>T | CA393773326 | POLG,POLGARF | c.242G>A (p.Arg81Lys) c.297G>A (p.Glu99=) n.440G>A | |
15 | g.89333514T>A | CA393773330 | POLG,POLGARF | c.241A>T (p.Arg81Ter) c.296A>T (p.Glu99Val) n.439A>T | dbSNP gnomAD v2 |
15 | g.89333514T>C | CA7725152 | POLG,POLGARF | c.241A>G (p.Arg81Gly) c.296A>G (p.Glu99Gly) n.439A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333514T>G | CA492290017 | POLG,POLGARF | c.241A>C (p.Arg81=) c.296A>C (p.Glu99Ala) n.439A>C | |
15 | g.89333514T= | CA2194572847 | POLG,POLGARF | c.241A= (p.Arg81=) c.296A= (p.Glu99=) n.439A= | |
15 | g.89333515C>A | CA492290020 | POLG,POLGARF | c.240G>T (p.Ser80=) c.295G>T (p.Glu99Ter) n.438G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333515C>G | CA492290021 | POLG,POLGARF | c.240G>C (p.Ser80=) c.295G>C (p.Glu99Gln) n.438G>C | gnomAD v4 |
15 | g.89333515C>T | CA492290022 | POLG,POLGARF | c.240G>A (p.Ser80=) c.295G>A (p.Glu99Lys) n.438G>A | gnomAD v4 |
15 | g.89333516G>A | CA393773340 | POLG,POLGARF | c.239C>T (p.Ser80Leu) c.294C>T (p.Leu98=) n.437C>T | gnomAD v4 |
15 | g.89333516G>C | CA393773337 | POLG,POLGARF | c.239C>G (p.Ser80Trp) c.294C>G (p.Leu98=) n.437C>G | |
15 | g.89333516G>T | CA393773334 | POLG,POLGARF | c.239C>A (p.Ser80Ter) c.294C>A (p.Leu98=) n.437C>A | |
15 | g.89333517A>C | CA393773344 | POLG,POLGARF | c.238T>G (p.Ser80Ala) c.293T>G (p.Leu98Arg) n.436T>G | |
15 | g.89333517A>G | CA393773347 | POLG,POLGARF | c.238T>C (p.Ser80Pro) c.293T>C (p.Leu98Pro) n.436T>C | |
15 | g.89333517A>T | CA393773350 | POLG,POLGARF | c.238T>A (p.Ser80Thr) c.293T>A (p.Leu98His) n.436T>A | |
15 | g.89333518G>A | CA7725153 | POLG,POLGARF | c.237C>T (p.Leu79=) c.292C>T (p.Leu98Phe) n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333518G>C | CA7725154 | POLG,POLGARF | c.237C>G (p.Leu79=) c.292C>G (p.Leu98Val) n.435C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333518G= | CA2194572856 | POLG,POLGARF | c.237C= (p.Leu79=) c.292C= (p.Leu98=) n.435C= | |
15 | g.89333518G>T | CA492290027 | POLG,POLGARF | c.237C>A (p.Leu79=) c.292C>A (p.Leu98Ile) n.435C>A | dbSNP |
15 | g.89333519A= | CA2194572865 | POLG,POLGARF | c.236T= (p.Leu79=) c.291T= (p.Ala97=) n.434T= | |
15 | g.89333519A>C | CA393773368 | POLG,POLGARF | c.236T>G (p.Leu79Arg) c.291T>G (p.Ala97=) n.434T>G | |
15 | g.89333519A>G | CA393773365 | POLG,POLGARF | c.236T>C (p.Leu79Pro) c.291T>C (p.Ala97=) n.434T>C | dbSNP |
15 | g.89333519A>T | CA393773362 | POLG,POLGARF | c.236T>A (p.Leu79His) c.291T>A (p.Ala97=) n.434T>A | |
15 | g.89333520G>A | CA393773371 | POLG,POLGARF | c.235C>T (p.Leu79Phe) c.290C>T (p.Ala97Val) n.433C>T | ClinVar |
15 | g.89333520G>C | CA393773374 | POLG,POLGARF | c.235C>G (p.Leu79Val) c.290C>G (p.Ala97Gly) n.433C>G | |
15 | g.89333520G= | CA2194572869 | POLG,POLGARF | c.235C= (p.Leu79=) c.290C= (p.Ala97=) n.433C= | |
15 | g.89333520G>T | CA393773378 | POLG,POLGARF | c.235C>A (p.Leu79Ile) c.290C>A (p.Ala97Asp) n.433C>A | |
15 | g.89333521C>A | CA393773381 | POLG,POLGARF | c.234G>T (p.Met78Ile) c.289G>T (p.Ala97Ser) n.432G>T | |
15 | g.89333521C>G | CA393773382 | POLG,POLGARF | c.234G>C (p.Met78Ile) c.289G>C (p.Ala97Pro) n.432G>C | |
15 | g.89333521C>T | CA393773383 | POLG,POLGARF | c.234G>A (p.Met78Ile) c.289G>A (p.Ala97Thr) n.432G>A | |
15 | g.89333521dup | CA2194572874 | POLG,POLGARF | c.234dup (p.Leu79AlafsTer?) c.289dup (p.Ala97GlyfsTer?) n.432dup | dbSNP |
15 | g.89333522A>C | CA393773384 | POLG,POLGARF | c.233T>G (p.Met78Arg) c.288T>G (p.Asp96Glu) n.431T>G | |
15 | g.89333522A>G | CA393773387 | POLG,POLGARF | c.233T>C (p.Met78Thr) c.288T>C (p.Asp96=) n.431T>C | |
15 | g.89333522A>T | CA393773385 | POLG,POLGARF | c.233T>A (p.Met78Lys) c.288T>A (p.Asp96Glu) n.431T>A | |
15 | g.89333523T>A | CA393773389 | POLG,POLGARF | c.232A>T (p.Met78Leu) c.287A>T (p.Asp96Val) n.430A>T | |
15 | g.89333523T>C | CA7725155 | POLG,POLGARF | c.232A>G (p.Met78Val) c.287A>G (p.Asp96Gly) n.430A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333523T>G | CA393773393 | POLG,POLGARF | c.232A>C (p.Met78Leu) c.287A>C (p.Asp96Ala) n.430A>C | |
15 | g.89333523T= | CA2194572876 | POLG,POLGARF | c.232A= (p.Met78=) c.287A= (p.Asp96=) n.430A= | |
15 | g.89333524C>A | CA7725156 | POLG,POLGARF | c.231G>T (p.Gln77His) c.286G>T (p.Asp96Tyr) n.429G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333524C= | CA2194572884 | POLG,POLGARF | c.231G= (p.Gln77=) c.286G= (p.Asp96=) n.429G= | |
15 | g.89333524C>G | CA7725157 | POLG,POLGARF | c.231G>C (p.Gln77His) c.286G>C (p.Asp96His) n.429G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333524C>T | CA492290035 | POLG,POLGARF | c.231G>A (p.Gln77=) c.286G>A (p.Asp96Asn) n.429G>A | dbSNP |