Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.89333378C>A | CA274566027 | POLG,POLGARF | c.377G>T (p.Arg126Leu) c.432G>T (p.Ala144=) c.34G>T n.575G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333378C= | CA2194572333 | POLG,POLGARF | c.377G= (p.Arg126=) c.432G= (p.Ala144=) c.34G= n.575G= | |
15 | g.89333378C>G | CA393772182 | POLG,POLGARF | c.377G>C (p.Arg126Pro) c.432G>C (p.Ala144=) c.34G>C n.575G>C | |
15 | g.89333378C>T | CA393772179 | POLG,POLGARF | c.377G>A (p.Arg126His) c.432G>A (p.Ala144=) c.34G>A n.575G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>A | CA274566028 | POLG,POLGARF | c.376C>T (p.Arg126Cys) c.431C>T (p.Ala144Val) c.33C>T n.574C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>C | CA393772188 | POLG,POLGARF | c.376C>G (p.Arg126Gly) c.431C>G (p.Ala144Gly) c.33C>G n.574C>G | |
15 | g.89333379G= | CA2194572337 | POLG,POLGARF | c.376C= (p.Arg126=) c.431C= (p.Ala144=) c.33C= n.574C= | |
15 | g.89333379G>T | CA393772192 | POLG,POLGARF | c.376C>A (p.Arg126Ser) c.431C>A (p.Ala144Glu) c.33C>A n.574C>A | gnomAD v4 |
15 | g.89333380C>A | CA492290060 | POLG,POLGARF | c.375G>T (p.Leu125=) c.430G>T (p.Ala144Ser) c.32G>T n.573G>T | gnomAD v4 |
15 | g.89333380C>G | CA492290062 | POLG,POLGARF | c.375G>C (p.Leu125=) c.430G>C (p.Ala144Pro) c.32G>C n.573G>C | |
15 | g.89333380C>T | CA492290064 | POLG,POLGARF | c.375G>A (p.Leu125=) c.430G>A (p.Ala144Thr) c.32G>A n.573G>A | |
15 | g.89333381A>C | CA393772198 | POLG,POLGARF | c.374T>G (p.Leu125Arg) c.429T>G (p.Ala143=) c.31T>G n.572T>G | gnomAD v4 |
15 | g.89333381A>G | CA393772201 | POLG,POLGARF | c.374T>C (p.Leu125Pro) c.429T>C (p.Ala143=) c.31T>C n.572T>C | |
15 | g.89333381A>T | CA393772203 | POLG,POLGARF | c.374T>A (p.Leu125Gln) c.429T>A (p.Ala143=) c.31T>A n.572T>A | |
15 | g.89333382G>A | CA492290066 | POLG,POLGARF | c.373C>T (p.Leu125=) c.428C>T (p.Ala143Val) c.30C>T n.571C>T | gnomAD v4 |
15 | g.89333382G>C | CA393772214 | POLG,POLGARF | c.373C>G (p.Leu125Val) c.428C>G (p.Ala143Gly) c.30C>G n.571C>G | ClinVar gnomAD v4 |
15 | g.89333382G>T | CA393772216 | POLG,POLGARF | c.373C>A (p.Leu125Met) c.428C>A (p.Ala143Asp) c.30C>A n.571C>A | gnomAD v4 COSMIC |
15 | g.89333383C>A | CA393772222 | POLG,POLGARF | c.372G>T (p.Glu124Asp) c.427G>T (p.Ala143Ser) c.29G>T n.570G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333383C= | CA2194572339 | POLG,POLGARF | c.372G= (p.Glu124=) c.427G= (p.Ala143=) c.29G= n.570G= | |
15 | g.89333383C>G | CA274566030 | POLG,POLGARF | c.372G>C (p.Glu124Asp) c.427G>C (p.Ala143Pro) c.29G>C n.570G>C | dbSNP |
15 | g.89333383C>T | CA492290068 | POLG,POLGARF | c.372G>A (p.Glu124=) c.427G>A (p.Ala143Thr) c.29G>A n.570G>A | |
15 | g.89333384T>A | CA393772231 | POLG,POLGARF | c.371A>T (p.Glu124Val) c.426A>T (p.Gly142=) c.28A>T n.569A>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333384T>C | CA393772237 | POLG,POLGARF | c.371A>G (p.Glu124Gly) c.426A>G (p.Gly142=) c.28A>G n.569A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333384T>G | CA393772247 | POLG,POLGARF | c.371A>C (p.Glu124Ala) c.426A>C (p.Gly142=) c.28A>C n.569A>C | |
15 | g.89333384T= | CA2194572342 | POLG,POLGARF | c.371A= (p.Glu124=) c.426A= (p.Gly142=) c.28A= n.569A= | |
15 | g.89333385C>A | CA393772251 | POLG,POLGARF | c.370G>T (p.Glu124Ter) c.425G>T (p.Gly142Val) c.27G>T n.568G>T | gnomAD v4 |
15 | g.89333385C>G | CA393772259 | POLG,POLGARF | c.370G>C (p.Glu124Gln) c.425G>C (p.Gly142Ala) c.27G>C n.568G>C | |
15 | g.89333385C>T | CA393772255 | POLG,POLGARF | c.370G>A (p.Glu124Lys) c.425G>A (p.Gly142Glu) c.27G>A n.568G>A | gnomAD v4 |
15 | g.89333386C>A | CA492290070 | POLG,POLGARF | c.369G>T (p.Val123=) c.424G>T (p.Gly142Ter) c.26G>T n.567G>T | |
15 | g.89333386C>G | CA492290071 | POLG,POLGARF | c.369G>C (p.Val123=) c.424G>C (p.Gly142Arg) c.26G>C n.567G>C | |
15 | g.89333386C>T | CA492290072 | POLG,POLGARF | c.369G>A (p.Val123=) c.424G>A (p.Gly142Arg) c.26G>A n.567G>A | |
15 | g.89333387A>C | CA393772269 | POLG,POLGARF | c.368T>G (p.Val123Gly) c.423T>G (p.Arg141=) c.25T>G n.566T>G | ClinVar |
15 | g.89333387A>G | CA393772273 | POLG,POLGARF | c.368T>C (p.Val123Ala) c.423T>C (p.Arg141=) c.25T>C n.566T>C | |
15 | g.89333387A>T | CA393772277 | POLG,POLGARF | c.368T>A (p.Val123Glu) c.423T>A (p.Arg141=) c.25T>A n.566T>A | |
15 | g.89333388C>A | CA393772284 | POLG,POLGARF | c.367G>T (p.Val123Leu) c.422G>T (p.Arg141Leu) c.24G>T n.565G>T | gnomAD v4 |
15 | g.89333388C= | CA2194572345 | POLG,POLGARF | c.367G= (p.Val123=) c.422G= (p.Arg141=) c.24G= n.565G= | |
15 | g.89333388C>G | CA393772286 | POLG,POLGARF | c.367G>C (p.Val123Leu) c.422G>C (p.Arg141Pro) c.24G>C n.565G>C | ClinVar dbSNP gnomAD v4 |
15 | g.89333388C>T | CA393772288 | POLG,POLGARF | c.367G>A (p.Val123Met) c.422G>A (p.Arg141His) c.24G>A n.565G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333389G>A | CA492290076 | POLG,POLGARF | c.366C>T (p.Asp122=) c.421C>T (p.Arg141Cys) c.23C>T n.564C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333389G>C | CA393772291 | POLG,POLGARF | c.366C>G (p.Asp122Glu) c.421C>G (p.Arg141Gly) c.23C>G n.564C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333389G= | CA2194572349 | POLG,POLGARF | c.366C= (p.Asp122=) c.421C= (p.Arg141=) c.23C= n.564C= | |
15 | g.89333389G>T | CA393772295 | POLG,POLGARF | c.366C>A (p.Asp122Glu) c.421C>A (p.Arg141Ser) c.23C>A n.564C>A | gnomAD v4 |
15 | g.89333390T>A | CA393772302 | POLG,POLGARF | c.365A>T (p.Asp122Val) c.420A>T (p.Arg140=) c.22A>T n.563A>T | |
15 | g.89333390T>C | CA393772306 | POLG,POLGARF | c.365A>G (p.Asp122Gly) c.420A>G (p.Arg140=) c.22A>G n.563A>G | |
15 | g.89333390T>G | CA393772307 | POLG,POLGARF | c.365A>C (p.Asp122Ala) c.420A>C (p.Arg140=) c.22A>C n.563A>C | |
15 | g.89333391C>A | CA393772315 | POLG,POLGARF | c.364G>T (p.Asp122Tyr) c.419G>T (p.Arg140Leu) c.21G>T n.562G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333391C= | CA2194572353 | POLG,POLGARF | c.364G= (p.Asp122=) c.419G= (p.Arg140=) c.21G= n.562G= | |
15 | g.89333391C>G | CA393772318 | POLG,POLGARF | c.364G>C (p.Asp122His) c.419G>C (p.Arg140Pro) c.21G>C n.562G>C | |
15 | g.89333391C>T | CA393772312 | POLG,POLGARF | c.364G>A (p.Asp122Asn) c.419G>A (p.Arg140Gln) c.21G>A n.562G>A | dbSNP gnomAD v4 |
15 | g.89333392G>A | CA492290081 | POLG,POLGARF | c.363C>T (p.Pro121=) c.418C>T (p.Arg140Ter) c.20C>T n.561C>T | dbSNP gnomAD v4 |
15 | g.89333392G>C | CA492290082 | POLG,POLGARF | c.363C>G (p.Pro121=) c.418C>G (p.Arg140Gly) c.20C>G n.561C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333392G= | CA2194572359 | POLG,POLGARF | c.363C= (p.Pro121=) c.418C= (p.Arg140=) c.20C= n.561C= | |
15 | g.89333392G>T | CA492290080 | POLG,POLGARF | c.363C>A (p.Pro121=) c.418C>A (p.Arg140=) c.20C>A n.561C>A | gnomAD v4 |
15 | g.89333397_89333402del | CA2630256935 | POLG,POLGARF | c.358_363del (p.Leu120_Pro121del) c.413_418del (p.Leu138_Ala139del) c.15_20del n.556_561del | gnomAD v4 |
15 | g.89333393G>A | CA393772326 | POLG,POLGARF | c.362C>T (p.Pro121Leu) c.417C>T (p.Ala139=) c.19C>T n.560C>T | gnomAD v4 |
15 | g.89333393G>C | CA393772322 | POLG,POLGARF | c.362C>G (p.Pro121Arg) c.417C>G (p.Ala139=) c.19C>G n.560C>G | |
15 | g.89333393G>T | CA393772324 | POLG,POLGARF | c.362C>A (p.Pro121His) c.417C>A (p.Ala139=) c.19C>A n.560C>A | gnomAD v4 |
15 | g.89333394G>A | CA393772336 | POLG,POLGARF | c.361C>T (p.Pro121Ser) c.416C>T (p.Ala139Val) c.18C>T n.559C>T | gnomAD v4 |
15 | g.89333394G>C | CA393772339 | POLG,POLGARF | c.361C>G (p.Pro121Ala) c.416C>G (p.Ala139Gly) c.18C>G n.559C>G | |
15 | g.89333394G>T | CA393772342 | POLG,POLGARF | c.361C>A (p.Pro121Thr) c.416C>A (p.Ala139Asp) c.18C>A n.559C>A | gnomAD v4 |
15 | g.89333395C>A | CA10606097 | POLG,POLGARF | c.360G>T (p.Leu120Phe) c.415G>T (p.Ala139Ser) c.17G>T n.558G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333395C= | CA2194572370 | POLG,POLGARF | c.360G= (p.Leu120=) c.415G= (p.Ala139=) c.17G= n.558G= | |
15 | g.89333395C>G | CA393772348 | POLG,POLGARF | c.360G>C (p.Leu120Phe) c.415G>C (p.Ala139Pro) c.17G>C n.558G>C | ClinVar gnomAD v4 |
15 | g.89333395C>T | CA492290083 | POLG,POLGARF | c.360G>A (p.Leu120=) c.415G>A (p.Ala139Thr) c.17G>A n.558G>A | |
15 | g.89333396A>C | CA393772374 | POLG,POLGARF | c.359T>G (p.Leu120Trp) c.414T>G (p.Leu138=) c.16T>G n.557T>G | |
15 | g.89333396A>G | CA393772366 | POLG,POLGARF | c.359T>C (p.Leu120Ser) c.414T>C (p.Leu138=) c.16T>C n.557T>C | |
15 | g.89333396A>T | CA393772369 | POLG,POLGARF | c.359T>A (p.Leu120Ter) c.414T>A (p.Leu138=) c.16T>A n.557T>A | |
15 | g.89333397A>C | CA393772382 | POLG,POLGARF | c.358T>G (p.Leu120Val) c.413T>G (p.Leu138Arg) c.15T>G n.556T>G | |
15 | g.89333397A>G | CA492290085 | POLG,POLGARF | c.358T>C (p.Leu120=) c.413T>C (p.Leu138Pro) c.15T>C n.556T>C | |
15 | g.89333397A>T | CA393772386 | POLG,POLGARF | c.358T>A (p.Leu120Met) c.413T>A (p.Leu138His) c.15T>A n.556T>A | |
15 | g.89333398G>A | CA492290086 | POLG,POLGARF | c.357C>T (p.Pro119=) c.412C>T (p.Leu138Phe) c.14C>T n.555C>T | ClinVar |
15 | g.89333398G>C | CA492290087 | POLG,POLGARF | c.357C>G (p.Pro119=) c.412C>G (p.Leu138Val) c.14C>G n.555C>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333398G= | CA2194572375 | POLG,POLGARF | c.357C= (p.Pro119=) c.412C= (p.Leu138=) c.14C= n.555C= | |
15 | g.89333398G>T | CA492290088 | POLG,POLGARF | c.357C>A (p.Pro119=) c.412C>A (p.Leu138Ile) c.14C>A n.555C>A | gnomAD v4 |
15 | g.89333399G>A | CA393772390 | POLG,POLGARF | c.356C>T (p.Pro119Leu) c.411C>T (p.Ala137=) c.13C>T n.554C>T | gnomAD v4 |
15 | g.89333399G>C | CA393772394 | POLG,POLGARF | c.356C>G (p.Pro119Arg) c.411C>G (p.Ala137=) c.13C>G n.554C>G | gnomAD v4 |
15 | g.89333399G>T | CA393772399 | POLG,POLGARF | c.356C>A (p.Pro119His) c.411C>A (p.Ala137=) c.13C>A n.554C>A | gnomAD v4 |
15 | g.89333400G>A | CA393772404 | POLG,POLGARF | c.355C>T (p.Pro119Ser) c.410C>T (p.Ala137Val) c.12C>T n.553C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333400G>C | CA393772410 | POLG,POLGARF | c.355C>G (p.Pro119Ala) c.410C>G (p.Ala137Gly) c.12C>G n.553C>G | |
15 | g.89333400G= | CA2194572381 | POLG,POLGARF | c.355C= (p.Pro119=) c.410C= (p.Ala137=) c.12C= n.553C= | |
15 | g.89333400G>T | CA393772408 | POLG,POLGARF | c.355C>A (p.Pro119Thr) c.410C>A (p.Ala137Asp) c.12C>A n.553C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333401C>A | CA492290091 | POLG,POLGARF | c.354G>T (p.Val118=) c.409G>T (p.Ala137Ser) c.11G>T n.552G>T | ClinVar gnomAD v4 |
15 | g.89333401C>G | CA492290092 | POLG,POLGARF | c.354G>C (p.Val118=) c.409G>C (p.Ala137Pro) c.11G>C n.552G>C | gnomAD v4 |
15 | g.89333401C>T | CA492290093 | POLG,POLGARF | c.354G>A (p.Val118=) c.409G>A (p.Ala137Thr) c.11G>A n.552G>A | gnomAD v4 |
15 | g.89333402A>C | CA393772417 | POLG,POLGARF | c.353T>G (p.Val118Gly) c.408T>G (p.Arg136=) c.10T>G n.551T>G | |
15 | g.89333402A>G | CA393772421 | POLG,POLGARF | c.353T>C (p.Val118Ala) c.408T>C (p.Arg136=) c.10T>C n.551T>C | ClinVar |
15 | g.89333402A>T | CA393772422 | POLG,POLGARF | c.353T>A (p.Val118Glu) c.408T>A (p.Arg136=) c.10T>A n.551T>A | |
15 | g.89333402dup | CA2630256936 | POLG,POLGARF | c.353dup (p.Pro119AlafsTer?) c.408dup (p.Ala137CysfsTer?) c.10dup n.551dup | gnomAD v4 |
15 | g.89333403C>A | CA393772423 | POLG,POLGARF | c.352G>T (p.Val118Leu) c.407G>T (p.Arg136Leu) c.9G>T n.550G>T | ClinVar gnomAD v4 |
15 | g.89333403C= | CA2194572384 | POLG,POLGARF | c.352G= (p.Val118=) c.407G= (p.Arg136=) c.9G= n.550G= | |
15 | g.89333403C>G | CA393772426 | POLG,POLGARF | c.352G>C (p.Val118Leu) c.407G>C (p.Arg136Pro) c.9G>C n.550G>C | gnomAD v4 |
15 | g.89333403C>T | CA7725127 | POLG,POLGARF | c.352G>A (p.Val118Met) c.407G>A (p.Arg136His) c.9G>A n.550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
15 | g.89333404G>A | CA492290097 | POLG,POLGARF | c.351C>T (p.Ala117=) c.406C>T (p.Arg136Cys) c.8C>T n.549C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333404G>C | CA492290098 | POLG,POLGARF | c.351C>G (p.Ala117=) c.406C>G (p.Arg136Gly) c.8C>G n.549C>G | gnomAD v4 |
15 | g.89333404G= | CA2194572393 | POLG,POLGARF | c.351C= (p.Ala117=) c.406C= (p.Arg136=) c.8C= n.549C= | |
15 | g.89333404G>T | CA492290099 | POLG,POLGARF | c.351C>A (p.Ala117=) c.406C>A (p.Arg136Ser) c.8C>A n.549C>A | gnomAD v4 |
15 | g.89333405G>A | CA393772433 | POLG,POLGARF | c.350C>T (p.Ala117Val) c.405C>T (p.Ser135=) c.7C>T n.548C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333405G>C | CA393772436 | POLG,POLGARF | c.350C>G (p.Ala117Gly) c.405C>G (p.Ser135Arg) c.7C>G n.548C>G | |
15 | g.89333405G= | CA2194572398 | POLG,POLGARF | c.350C= (p.Ala117=) c.405C= (p.Ser135=) c.7C= n.548C= | |
15 | g.89333405G>T | CA393772442 | POLG,POLGARF | c.350C>A (p.Ala117Asp) c.405C>A (p.Ser135Arg) c.7C>A n.548C>A | gnomAD v4 |
15 | g.89333406C>A | CA393772448 | POLG,POLGARF | c.349G>T (p.Ala117Ser) c.404G>T (p.Ser135Ile) c.6G>T n.547G>T | gnomAD v4 |
15 | g.89333406C>G | CA393772450 | POLG,POLGARF | c.349G>C (p.Ala117Pro) c.404G>C (p.Ser135Thr) c.6G>C n.547G>C | |
15 | g.89333406C>T | CA393772453 | POLG,POLGARF | c.349G>A (p.Ala117Thr) c.404G>A (p.Ser135Asn) c.6G>A n.547G>A | gnomAD v4 |
15 | g.89333407T>A | CA492290100 | POLG,POLGARF | c.348A>T (p.Pro116=) c.403A>T (p.Ser135Cys) c.5A>T n.546A>T | |
15 | g.89333407T>C | CA492290102 | POLG,POLGARF | c.348A>G (p.Pro116=) c.403A>G (p.Ser135Gly) c.5A>G n.546A>G | |
15 | g.89333407T>G | CA492290103 | POLG,POLGARF | c.348A>C (p.Pro116=) c.403A>C (p.Ser135Arg) c.5A>C n.546A>C | gnomAD v4 |
15 | g.89333408G>A | CA7725128 | POLG,POLGARF | c.347C>T (p.Pro116Leu) c.402C>T (p.Ala134=) c.4C>T n.545C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333408G>C | CA10602276 | POLG,POLGARF | c.347C>G (p.Pro116Arg) c.402C>G (p.Ala134=) c.4C>G n.545C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333408G= | CA2194572408 | POLG,POLGARF | c.347C= (p.Pro116=) c.402C= (p.Ala134=) c.4C= n.545C= | |
15 | g.89333408G>T | CA393772461 | POLG,POLGARF | c.347C>A (p.Pro116Gln) c.402C>A (p.Ala134=) c.4C>A n.545C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409G>A | CA316879 | POLG,POLGARF | c.346C>T (p.Pro116Ser) c.401C>T (p.Ala134Val) c.3C>T n.544C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409G>C | CA393772472 | POLG,POLGARF | c.346C>G (p.Pro116Ala) c.401C>G (p.Ala134Gly) c.3C>G n.544C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333409G= | CA2194572415 | POLG,POLGARF | c.346C= (p.Pro116=) c.401C= (p.Ala134=) c.3C= n.544C= | |
15 | g.89333409G>T | CA393772480 | POLG,POLGARF | c.346C>A (p.Pro116Thr) c.401C>A (p.Ala134Asp) c.3C>A n.544C>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333410C>A | CA393772482 | POLG,POLGARF | c.345G>T (p.Gln115His) c.400G>T (p.Ala134Ser) c.2G>T n.543G>T | dbSNP |
15 | g.89333410C>G | CA393772485 | POLG,POLGARF | c.345G>C (p.Gln115His) c.400G>C (p.Ala134Pro) c.2G>C n.543G>C | |
15 | g.89333410C>T | CA492290106 | POLG,POLGARF | c.345G>A (p.Gln115=) c.400G>A (p.Ala134Thr) c.2G>A n.543G>A | gnomAD v4 COSMIC |
15 | g.89333411T>A | CA393772493 | POLG,POLGARF | c.344A>T (p.Gln115Leu) c.399A>T (p.Ala133=) c.1A>T n.542A>T | |
15 | g.89333411T>C | CA393772492 | POLG,POLGARF | c.344A>G (p.Gln115Arg) c.399A>G (p.Ala133=) c.1A>G n.542A>G | |
15 | g.89333411T>G | CA393772491 | POLG,POLGARF | c.344A>C (p.Gln115Pro) c.399A>C (p.Ala133=) c.1A>C n.542A>C | dbSNP |
15 | g.89333412G>A | CA393772494 | POLG,POLGARF | c.343C>T (p.Gln115Ter) c.398C>T (p.Ala133Val) n.541C>T | gnomAD v4 |
15 | g.89333412G>C | CA393772497 | POLG,POLGARF | c.343C>G (p.Gln115Glu) c.398C>G (p.Ala133Gly) n.541C>G | |
15 | g.89333412G= | CA2194572421 | POLG,POLGARF | c.343C= (p.Gln115=) c.398C= (p.Ala133=) n.541C= | |
15 | g.89333412G>T | CA274566051 | POLG,POLGARF | c.343C>A (p.Gln115Lys) c.398C>A (p.Ala133Glu) n.541C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333413C>A | CA492290112 | POLG,POLGARF | c.342G>T (p.Gly114=) c.397G>T (p.Ala133Ser) n.540G>T | ClinVar |
15 | g.89333413C= | CA2194572426 | POLG,POLGARF | c.342G= (p.Gly114=) c.397G= (p.Ala133=) n.540G= | |
15 | g.89333413C>G | CA492290113 | POLG,POLGARF | c.342G>C (p.Gly114=) c.397G>C (p.Ala133Pro) n.540G>C | |
15 | g.89333413C>T | CA492290114 | POLG,POLGARF | c.342G>A (p.Gly114=) c.397G>A (p.Ala133Thr) n.540G>A | dbSNP gnomAD v4 |
15 | g.89333417dup | CA2630256937 | POLG,POLGARF | c.342dup (p.Gln115AlafsTer?) c.397dup (p.Ala133GlyfsTer?) n.540dup | gnomAD v4 |
15 | g.89333417del | CA2630256938 | POLG,POLGARF | c.342del (p.Gln115SerfsTer?) c.397del (p.Ala133GlnfsTer?) n.540del | gnomAD v4 |
15 | g.89333414C>A | CA393772504 | POLG,POLGARF | c.341G>T (p.Gly114Val) c.396G>T (p.Gly132=) n.539G>T | |
15 | g.89333414C>G | CA393772507 | POLG,POLGARF | c.341G>C (p.Gly114Ala) c.396G>C (p.Gly132=) n.539G>C | |
15 | g.89333414C>T | CA393772510 | POLG,POLGARF | c.341G>A (p.Gly114Glu) c.396G>A (p.Gly132=) n.539G>A | gnomAD v4 |
15 | g.89333415C>A | CA393772525 | POLG,POLGARF | c.340G>T (p.Gly114Trp) c.395G>T (p.Gly132Val) n.538G>T | |
15 | g.89333415C= | CA2194572444 | POLG,POLGARF | c.340G= (p.Gly114=) c.395G= (p.Gly132=) n.538G= | |
15 | g.89333415C>G | CA393772516 | POLG,POLGARF | c.340G>C (p.Gly114Arg) c.395G>C (p.Gly132Ala) n.538G>C | |
15 | g.89333415C>T | CA7725129 | POLG,POLGARF | c.340G>A (p.Gly114Arg) c.395G>A (p.Gly132Glu) n.538G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333416C>A | CA393772532 | POLG,POLGARF | c.339G>T (p.Trp113Cys) c.394G>T (p.Gly132Trp) n.537G>T | ClinVar gnomAD v4 |
15 | g.89333416C>G | CA393772535 | POLG,POLGARF | c.339G>C (p.Trp113Cys) c.394G>C (p.Gly132Arg) n.537G>C | |
15 | g.89333416C>T | CA393772542 | POLG,POLGARF | c.339G>A (p.Trp113Ter) c.394G>A (p.Gly132Arg) n.537G>A | |
15 | g.89333417C>A | CA393772546 | POLG,POLGARF | c.338G>T (p.Trp113Leu) c.393G>T (p.Leu131=) n.536G>T | |
15 | g.89333417C>G | CA393772553 | POLG,POLGARF | c.338G>C (p.Trp113Ser) c.393G>C (p.Leu131=) n.536G>C | |
15 | g.89333417C>T | CA393772557 | POLG,POLGARF | c.338G>A (p.Trp113Ter) c.393G>A (p.Leu131=) n.536G>A | |
15 | g.89333418A= | CA2194572460 | POLG,POLGARF | c.337T= (p.Trp113=) c.392T= (p.Leu131=) n.535T= | |
15 | g.89333418A>C | CA7725130 | POLG,POLGARF | c.337T>G (p.Trp113Gly) c.392T>G (p.Leu131Arg) n.535T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333418A>G | CA393772565 | POLG,POLGARF | c.337T>C (p.Trp113Arg) c.392T>C (p.Leu131Pro) n.535T>C | |
15 | g.89333418A>T | CA393772568 | POLG,POLGARF | c.337T>A (p.Trp113Arg) c.392T>A (p.Leu131Gln) n.535T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333419G>A | CA492290124 | POLG,POLGARF | c.336C>T (p.Leu112=) c.391C>T (p.Leu131=) n.534C>T | |
15 | g.89333419G>C | CA16607931 | POLG,POLGARF | c.336C>G (p.Leu112=) c.391C>G (p.Leu131Val) n.534C>G | ClinVar dbSNP |
15 | g.89333419G= | CA2194572468 | POLG,POLGARF | c.336C= (p.Leu112=) c.391C= (p.Leu131=) n.534C= | |
15 | g.89333419G>T | CA492290120 | POLG,POLGARF | c.336C>A (p.Leu112=) c.391C>A (p.Leu131Met) n.534C>A | gnomAD v4 |
15 | g.89333420A= | CA2194572478 | POLG,POLGARF | c.335T= (p.Leu112=) c.390T= (p.Ala130=) n.533T= | |
15 | g.89333420A>C | CA393772574 | POLG,POLGARF | c.335T>G (p.Leu112Arg) c.390T>G (p.Ala130=) n.533T>G | |
15 | g.89333420A>G | CA7725131 | POLG,POLGARF | c.335T>C (p.Leu112Pro) c.390T>C (p.Ala130=) n.533T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333420A>T | CA393772582 | POLG,POLGARF | c.335T>A (p.Leu112His) c.390T>A (p.Ala130=) n.533T>A | |
15 | g.89333421G>A | CA393772587 | POLG,POLGARF | c.334C>T (p.Leu112Phe) c.389C>T (p.Ala130Val) n.532C>T | dbSNP |
15 | g.89333421G>C | CA7725132 | POLG,POLGARF | c.334C>G (p.Leu112Val) c.389C>G (p.Ala130Gly) n.532C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333421G= | CA2194572483 | POLG,POLGARF | c.334C= (p.Leu112=) c.389C= (p.Ala130=) n.532C= | |
15 | g.89333421G>T | CA393772591 | POLG,POLGARF | c.334C>A (p.Leu112Ile) c.389C>A (p.Ala130Asp) n.532C>A | gnomAD v4 |
15 | g.89333422C>A | CA16614590 | POLG,POLGARF | c.333G>T (p.Gly111=) c.388G>T (p.Ala130Ser) n.531G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333422C= | CA2194572490 | POLG,POLGARF | c.333G= (p.Gly111=) c.388G= (p.Ala130=) n.531G= | |
15 | g.89333422C>G | CA492290127 | POLG,POLGARF | c.333G>C (p.Gly111=) c.388G>C (p.Ala130Pro) n.531G>C | |
15 | g.89333422C>T | CA492290129 | POLG,POLGARF | c.333G>A (p.Gly111=) c.388G>A (p.Ala130Thr) n.531G>A | gnomAD v4 |
15 | g.89333423C>A | CA393772610 | POLG,POLGARF | c.332G>T (p.Gly111Val) c.387G>T (p.Arg129=) n.530G>T | |
15 | g.89333423C>G | CA393772604 | POLG,POLGARF | c.332G>C (p.Gly111Ala) c.387G>C (p.Arg129=) n.530G>C | |
15 | g.89333423C>T | CA393772606 | POLG,POLGARF | c.332G>A (p.Gly111Glu) c.387G>A (p.Arg129=) n.530G>A | |
15 | g.89333424C>A | CA393772618 | POLG,POLGARF | c.331G>T (p.Gly111Trp) c.386G>T (p.Arg129Leu) n.529G>T | gnomAD v4 |
15 | g.89333424C= | CA2194572501 | POLG,POLGARF | c.331G= (p.Gly111=) c.386G= (p.Arg129=) n.529G= | |
15 | g.89333424C>G | CA7725133 | POLG,POLGARF | c.331G>C (p.Gly111Arg) c.386G>C (p.Arg129Pro) n.529G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333424C>T | CA393772630 | POLG,POLGARF | c.331G>A (p.Gly111Arg) c.386G>A (p.Arg129Gln) n.529G>A | gnomAD v4 |
15 | g.89333425del | CA645574966 | POLG,POLGARF | c.330del (p.His110GlnfsTer?) c.385del (p.Arg129GlyfsTer?) n.528del | COSMIC |
15 | g.89333425G>A | CA274566083 | POLG,POLGARF | c.330C>T (p.His110=) c.385C>T (p.Arg129Trp) n.528C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333425G>C | CA393772654 | POLG,POLGARF | c.330C>G (p.His110Gln) c.385C>G (p.Arg129Gly) n.528C>G | |
15 | g.89333425G= | CA2194572511 | POLG,POLGARF | c.330C= (p.His110=) c.385C= (p.Arg129=) n.528C= | |
15 | g.89333425G>T | CA393772658 | POLG,POLGARF | c.330C>A (p.His110Gln) c.385C>A (p.Arg129=) n.528C>A | |
15 | g.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.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 |