UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330158C>A | CA393766911 | POLG | c.778G>T (p.Asp260Tyr) c.379G>T (p.Asp127Tyr) c.435G>T n.976G>T c.*161G>T (n.*161G>T) | |
| 15 | g.89330158C= | CA2194565285 | POLG | c.778G= (p.Asp260=) c.379G= (p.Asp127=) c.435G= n.976G= c.*161G= (n.*161G=) | |
| 15 | g.89330158C>G | CA7725044 | POLG | c.778G>C (p.Asp260His) c.379G>C (p.Asp127His) c.435G>C n.976G>C c.*161G>C (n.*161G>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330158C>T | CA393766912 | POLG | c.778G>A (p.Asp260Asn) c.379G>A (p.Asp127Asn) c.435G>A n.976G>A c.*161G>A (n.*161G>A) | |
| 15 | g.89330159T>A | CA393766916 | POLG | c.777A>T (p.Arg259Ser) c.378A>T (p.Arg126Ser) c.434A>T n.975A>T c.*160A>T (n.*160A>T) | |
| 15 | g.89330159T>C | CA492080397 | POLG | c.777A>G (p.Arg259=) c.378A>G (p.Arg126=) c.434A>G n.975A>G c.*160A>G (n.*160A>G) | ClinVar |
| 15 | g.89330159T>G | CA393766914 | POLG | c.777A>C (p.Arg259Ser) c.378A>C (p.Arg126Ser) c.434A>C n.975A>C c.*160A>C (n.*160A>C) | |
| 15 | g.89330160C>A | CA393766918 | POLG | c.776G>T (p.Arg259Ile) c.377G>T (p.Arg126Ile) c.433G>T n.974G>T c.*159G>T (n.*159G>T) | |
| 15 | g.89330160C>G | CA393766919 | POLG | c.776G>C (p.Arg259Thr) c.377G>C (p.Arg126Thr) c.433G>C n.974G>C c.*159G>C (n.*159G>C) | |
| 15 | g.89330160C>T | CA393766921 | POLG | c.776G>A (p.Arg259Lys) c.377G>A (p.Arg126Lys) c.433G>A n.974G>A c.*159G>A (n.*159G>A) | |
| 15 | g.89330161T>A | CA393766923 | POLG | c.775A>T (p.Arg259Ter) c.376A>T (p.Arg126Ter) c.432A>T n.973A>T c.*158A>T (n.*158A>T) | |
| 15 | g.89330161T>C | CA393766925 | POLG | c.775A>G (p.Arg259Gly) c.376A>G (p.Arg126Gly) c.432A>G n.973A>G c.*158A>G (n.*158A>G) | |
| 15 | g.89330161T>G | CA492080414 | POLG | c.775A>C (p.Arg259=) c.376A>C (p.Arg126=) c.432A>C n.973A>C c.*158A>C (n.*158A>C) | |
| 15 | g.89330162C>A | CA393766927 | POLG | c.774G>T (p.Gln258His) c.375G>T (p.Gln125His) c.431G>T n.972G>T c.*157G>T (n.*157G>T) | |
| 15 | g.89330162C>G | CA393766929 | POLG | c.774G>C (p.Gln258His) c.375G>C (p.Gln125His) c.431G>C n.972G>C c.*157G>C (n.*157G>C) | gnomAD v4 |
| 15 | g.89330162C>T | CA492080419 | POLG | c.774G>A (p.Gln258=) c.375G>A (p.Gln125=) c.431G>A n.972G>A c.*157G>A (n.*157G>A) | |
| 15 | g.89330163T>A | CA393766931 | POLG | c.773A>T (p.Gln258Leu) c.374A>T (p.Gln125Leu) c.430A>T n.971A>T c.*156A>T (n.*156A>T) | |
| 15 | g.89330163T>C | CA7725045 | POLG | c.773A>G (p.Gln258Arg) c.374A>G (p.Gln125Arg) c.430A>G n.971A>G c.*156A>G (n.*156A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.89330163T>G | CA393766933 | POLG | c.773A>C (p.Gln258Pro) c.374A>C (p.Gln125Pro) c.430A>C n.971A>C c.*156A>C (n.*156A>C) | |
| 15 | g.89330163T= | CA2194565295 | POLG | c.773A= (p.Gln258=) c.374A= (p.Gln125=) c.430A= n.971A= c.*156A= (n.*156A=) | |
| 15 | g.89330164G>A | CA393766936 | POLG | c.772C>T (p.Gln258Ter) c.373C>T (p.Gln125Ter) c.429C>T n.970C>T c.*155C>T (n.*155C>T) | |
| 15 | g.89330164G>C | CA393766938 | POLG | c.772C>G (p.Gln258Glu) c.373C>G (p.Gln125Glu) c.429C>G n.970C>G c.*155C>G (n.*155C>G) | |
| 15 | g.89330164G>T | CA393766940 | POLG | c.772C>A (p.Gln258Lys) c.373C>A (p.Gln125Lys) c.429C>A n.970C>A c.*155C>A (n.*155C>A) | |
| 15 | g.89330165G>A | CA492080433 | POLG | c.771C>T (p.Thr257=) c.372C>T (p.Thr124=) c.428C>T n.969C>T c.*154C>T (n.*154C>T) | dbSNP |
| 15 | g.89330165G>C | CA492080436 | POLG | c.771C>G (p.Thr257=) c.372C>G (p.Thr124=) c.428C>G n.969C>G c.*154C>G (n.*154C>G) | ClinVar dbSNP |
| 15 | g.89330165G= | CA2194565300 | POLG | c.771C= (p.Thr257=) c.372C= (p.Thr124=) c.428C= n.969C= c.*154C= (n.*154C=) | |
| 15 | g.89330165G>T | CA492080439 | POLG | c.771C>A (p.Thr257=) c.372C>A (p.Thr124=) c.428C>A n.969C>A c.*154C>A (n.*154C>A) | |
| 15 | g.89330166G>A | CA393766941 | POLG | c.770C>T (p.Thr257Ile) c.371C>T (p.Thr124Ile) c.427C>T n.968C>T c.*153C>T (n.*153C>T) | |
| 15 | g.89330166G>C | CA393766944 | POLG | c.770C>G (p.Thr257Ser) c.371C>G (p.Thr124Ser) c.427C>G n.968C>G c.*153C>G (n.*153C>G) | |
| 15 | g.89330166G= | CA2194565308 | POLG | c.770C= (p.Thr257=) c.371C= (p.Thr124=) c.427C= n.968C= c.*153C= (n.*153C=) | |
| 15 | g.89330166G>T | CA393766946 | POLG | c.770C>A (p.Thr257Asn) c.371C>A (p.Thr124Asn) c.427C>A n.968C>A c.*153C>A (n.*153C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330167T>A | CA393766948 | POLG | c.769A>T (p.Thr257Ser) c.370A>T (p.Thr124Ser) c.426A>T n.967A>T c.*152A>T (n.*152A>T) | gnomAD v4 |
| 15 | g.89330167T>C | CA393766950 | POLG | c.769A>G (p.Thr257Ala) c.370A>G (p.Thr124Ala) c.426A>G n.967A>G c.*152A>G (n.*152A>G) | |
| 15 | g.89330167T>G | CA393766952 | POLG | c.769A>C (p.Thr257Pro) c.370A>C (p.Thr124Pro) c.426A>C n.967A>C c.*152A>C (n.*152A>C) | |
| 15 | g.89330168G>A | CA492080446 | POLG | c.768C>T (p.Pro256=) c.369C>T (p.Pro123=) c.425C>T n.966C>T c.*151C>T (n.*151C>T) | ClinVar gnomAD v4 |
| 15 | g.89330168G>C | CA492080452 | POLG | c.768C>G (p.Pro256=) c.369C>G (p.Pro123=) c.425C>G n.966C>G c.*151C>G (n.*151C>G) | |
| 15 | g.89330168G>T | CA492080448 | POLG | c.768C>A (p.Pro256=) c.369C>A (p.Pro123=) c.425C>A n.966C>A c.*151C>A (n.*151C>A) | |
| 15 | g.89330169G>A | CA393766955 | POLG | c.767C>T (p.Pro256Leu) c.368C>T (p.Pro123Leu) c.424C>T n.965C>T c.*150C>T (n.*150C>T) | |
| 15 | g.89330169G>C | CA393766956 | POLG | c.767C>G (p.Pro256Arg) c.368C>G (p.Pro123Arg) c.424C>G n.965C>G c.*150C>G (n.*150C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330169G= | CA2194565316 | POLG | c.767C= (p.Pro256=) c.368C= (p.Pro123=) c.424C= n.965C= c.*150C= (n.*150C=) | |
| 15 | g.89330169G>T | CA393766958 | POLG | c.767C>A (p.Pro256His) c.368C>A (p.Pro123His) c.424C>A n.965C>A c.*150C>A (n.*150C>A) | |
| 15 | g.89330170G>A | CA393766961 | POLG | c.766C>T (p.Pro256Ser) c.367C>T (p.Pro123Ser) c.423C>T n.964C>T c.*149C>T (n.*149C>T) | gnomAD v4 |
| 15 | g.89330170G>C | CA7725046 | POLG | c.766C>G (p.Pro256Ala) c.367C>G (p.Pro123Ala) c.423C>G n.964C>G c.*149C>G (n.*149C>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330170G= | CA2194565321 | POLG | c.766C= (p.Pro256=) c.367C= (p.Pro123=) c.423C= n.964C= c.*149C= (n.*149C=) | |
| 15 | g.89330170G>T | CA393766960 | POLG | c.766C>A (p.Pro256Thr) c.367C>A (p.Pro123Thr) c.423C>A n.964C>A c.*149C>A (n.*149C>A) | |
| 15 | g.89330171G>A | CA492080466 | POLG | c.765C>T (p.Ser255=) c.366C>T (p.Ser122=) c.422C>T n.963C>T c.*148C>T (n.*148C>T) | |
| 15 | g.89330171G>C | CA393766963 | POLG | c.765C>G (p.Ser255Arg) c.366C>G (p.Ser122Arg) c.422C>G n.963C>G c.*148C>G (n.*148C>G) | |
| 15 | g.89330171G>T | CA393766964 | POLG | c.765C>A (p.Ser255Arg) c.366C>A (p.Ser122Arg) c.422C>A n.963C>A c.*148C>A (n.*148C>A) | |
| 15 | g.89330172C>A | CA393766965 | POLG | c.764G>T (p.Ser255Ile) c.365G>T (p.Ser122Ile) c.421G>T n.962G>T c.*147G>T (n.*147G>T) | gnomAD v4 |
| 15 | g.89330172C= | CA2194565329 | POLG | c.764G= (p.Ser255=) c.365G= (p.Ser122=) c.421G= n.962G= c.*147G= (n.*147G=) | |
| 15 | g.89330172C>G | CA393766966 | POLG | c.764G>C (p.Ser255Thr) c.365G>C (p.Ser122Thr) c.421G>C n.962G>C c.*147G>C (n.*147G>C) | |
| 15 | g.89330172C>T | CA393766967 | POLG | c.764G>A (p.Ser255Asn) c.365G>A (p.Ser122Asn) c.421G>A n.962G>A c.*147G>A (n.*147G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330173T>A | CA393766968 | POLG | c.763A>T (p.Ser255Cys) c.364A>T (p.Ser122Cys) c.420A>T n.961A>T c.*146A>T (n.*146A>T) | |
| 15 | g.89330173T>C | CA7725047 | POLG | c.763A>G (p.Ser255Gly) c.364A>G (p.Ser122Gly) c.420A>G n.961A>G c.*146A>G (n.*146A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330173T>G | CA393766969 | POLG | c.763A>C (p.Ser255Arg) c.364A>C (p.Ser122Arg) c.420A>C n.961A>C c.*146A>C (n.*146A>C) | |
| 15 | g.89330173T= | CA2194565331 | POLG | c.763A= (p.Ser255=) c.364A= (p.Ser122=) c.420A= n.961A= c.*146A= (n.*146A=) | |
| 15 | g.89330174G>A | CA274560205 | POLG | c.762C>T (p.Ser254=) c.363C>T (p.Ser121=) c.419C>T n.960C>T c.*145C>T (n.*145C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330174G>C | CA393766970 | POLG | c.762C>G (p.Ser254Arg) c.363C>G (p.Ser121Arg) c.419C>G n.960C>G c.*145C>G (n.*145C>G) | |
| 15 | g.89330174G= | CA2194565335 | POLG | c.762C= (p.Ser254=) c.363C= (p.Ser121=) c.419C= n.960C= c.*145C= (n.*145C=) | |
| 15 | g.89330174G>T | CA393766971 | POLG | c.762C>A (p.Ser254Arg) c.363C>A (p.Ser121Arg) c.419C>A n.960C>A c.*145C>A (n.*145C>A) | |
| 15 | g.89330175C>A | CA393766972 | POLG | c.761G>T (p.Ser254Ile) c.362G>T (p.Ser121Ile) c.418G>T n.959G>T c.*144G>T (n.*144G>T) | |
| 15 | g.89330175C= | CA2194565337 | POLG | c.761G= (p.Ser254=) c.362G= (p.Ser121=) c.418G= n.959G= c.*144G= (n.*144G=) | |
| 15 | g.89330175C>G | CA393766973 | POLG | c.761G>C (p.Ser254Thr) c.362G>C (p.Ser121Thr) c.418G>C n.959G>C c.*144G>C (n.*144G>C) | |
| 15 | g.89330175C>T | CA393766974 | POLG | c.761G>A (p.Ser254Asn) c.362G>A (p.Ser121Asn) c.418G>A n.959G>A c.*144G>A (n.*144G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89330176T>A | CA393766977 | POLG | c.760A>T (p.Ser254Cys) c.361A>T (p.Ser121Cys) c.417A>T n.958A>T c.*143A>T (n.*143A>T) | ClinVar |
| 15 | g.89330176T>C | CA393766976 | POLG | c.760A>G (p.Ser254Gly) c.361A>G (p.Ser121Gly) c.417A>G n.958A>G c.*143A>G (n.*143A>G) | |
| 15 | g.89330176T>G | CA393766975 | POLG | c.760A>C (p.Ser254Arg) c.361A>C (p.Ser121Arg) c.417A>C n.958A>C c.*143A>C (n.*143A>C) | |
| 15 | g.89330177G>A | CA492080492 | POLG | c.759C>T (p.Ala253=) c.360C>T (p.Ala120=) c.416C>T n.957C>T c.*142C>T (n.*142C>T) | |
| 15 | g.89330177G>C | CA492080494 | POLG | c.759C>G (p.Ala253=) c.360C>G (p.Ala120=) c.416C>G n.957C>G c.*142C>G (n.*142C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330177G= | CA2194565346 | POLG | c.759C= (p.Ala253=) c.360C= (p.Ala120=) c.416C= n.957C= c.*142C= (n.*142C=) | |
| 15 | g.89330177G>T | CA492080497 | POLG | c.759C>A (p.Ala253=) c.360C>A (p.Ala120=) c.416C>A n.957C>A c.*142C>A (n.*142C>A) | |
| 15 | g.89330178G>A | CA393766978 | POLG | c.758C>T (p.Ala253Val) c.359C>T (p.Ala120Val) c.415C>T n.956C>T c.*141C>T (n.*141C>T) | |
| 15 | g.89330178G>C | CA393766979 | POLG | c.758C>G (p.Ala253Gly) c.359C>G (p.Ala120Gly) c.415C>G n.956C>G c.*141C>G (n.*141C>G) | |
| 15 | g.89330178G>T | CA393766980 | POLG | c.758C>A (p.Ala253Asp) c.359C>A (p.Ala120Asp) c.415C>A n.956C>A c.*141C>A (n.*141C>A) | |
| 15 | g.89330179C>A | CA393766981 | POLG | c.757G>T (p.Ala253Ser) c.358G>T (p.Ala120Ser) c.414G>T n.955G>T c.*140G>T (n.*140G>T) | |
| 15 | g.89330179C>G | CA393766982 | POLG | c.757G>C (p.Ala253Pro) c.358G>C (p.Ala120Pro) c.414G>C n.955G>C c.*140G>C (n.*140G>C) | ClinVar gnomAD v4 |
| 15 | g.89330179C>T | CA393766983 | POLG | c.757G>A (p.Ala253Thr) c.358G>A (p.Ala120Thr) c.414G>A n.955G>A c.*140G>A (n.*140G>A) | |
| 15 | g.89330180A>C | CA492080507 | POLG | c.756T>G (p.Gly252=) c.357T>G (p.Gly119=) c.413T>G n.954T>G c.*139T>G (n.*139T>G) | |
| 15 | g.89330180A>G | CA492080509 | POLG | c.756T>C (p.Gly252=) c.357T>C (p.Gly119=) c.413T>C n.954T>C c.*139T>C (n.*139T>C) | |
| 15 | g.89330180A>T | CA492080511 | POLG | c.756T>A (p.Gly252=) c.357T>A (p.Gly119=) c.413T>A n.954T>A c.*139T>A (n.*139T>A) | |
| 15 | g.89330181C>A | CA393766984 | POLG | c.755G>T (p.Gly252Val) c.356G>T (p.Gly119Val) c.412G>T n.953G>T c.*138G>T (n.*138G>T) | |
| 15 | g.89330181C= | CA2194565354 | POLG | c.755G= (p.Gly252=) c.356G= (p.Gly119=) c.412G= n.953G= c.*138G= (n.*138G=) | |
| 15 | g.89330181C>G | CA393766985 | POLG | c.755G>C (p.Gly252Ala) c.356G>C (p.Gly119Ala) c.412G>C n.953G>C c.*138G>C (n.*138G>C) | ClinVar |
| 15 | g.89330181C>T | CA393766986 | POLG | c.755G>A (p.Gly252Asp) c.356G>A (p.Gly119Asp) c.412G>A n.953G>A c.*138G>A (n.*138G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330182C>A | CA393766987 | POLG | c.754G>T (p.Gly252Cys) c.355G>T (p.Gly119Cys) c.411G>T n.952G>T c.*137G>T (n.*137G>T) | |
| 15 | g.89330182C>G | CA393766988 | POLG | c.754G>C (p.Gly252Arg) c.355G>C (p.Gly119Arg) c.411G>C n.952G>C c.*137G>C (n.*137G>C) | |
| 15 | g.89330182C>T | CA393766989 | POLG | c.754G>A (p.Gly252Ser) c.355G>A (p.Gly119Ser) c.411G>A n.952G>A c.*137G>A (n.*137G>A) | dbSNP |
| 15 | g.89330183A= | CA2194565358 | POLG | c.753T= (p.Thr251=) c.354T= (p.Thr118=) c.410T= n.951T= c.*136T= (n.*136T=) | |
| 15 | g.89330183A>C | CA492080529 | POLG | c.753T>G (p.Thr251=) c.354T>G (p.Thr118=) c.410T>G n.951T>G c.*136T>G (n.*136T>G) | |
| 15 | g.89330183A>G | CA492080524 | POLG | c.753T>C (p.Thr251=) c.354T>C (p.Thr118=) c.410T>C n.951T>C c.*136T>C (n.*136T>C) | |
| 15 | g.89330183A>T | CA7725048 | POLG | c.753T>A (p.Thr251=) c.354T>A (p.Thr118=) c.410T>A n.951T>A c.*136T>A (n.*136T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330184G>A | CA123142 | POLG | c.752C>T (p.Thr251Ile) c.353C>T (p.Thr118Ile) c.409C>T n.950C>T c.*135C>T (n.*135C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330184G>C | CA393766991 | POLG | c.752C>G (p.Thr251Ser) c.353C>G (p.Thr118Ser) c.409C>G n.950C>G c.*135C>G (n.*135C>G) | dbSNP gnomAD v4 |
| 15 | g.89330184G= | CA2194565368 | POLG | c.752C= (p.Thr251=) c.353C= (p.Thr118=) c.409C= n.950C= c.*135C= (n.*135C=) | |
| 15 | g.89330184G>T | CA393766990 | POLG | c.752C>A (p.Thr251Asn) c.353C>A (p.Thr118Asn) c.409C>A n.950C>A c.*135C>A (n.*135C>A) | |
| 15 | g.89330185T>A | CA393766992 | POLG | c.751A>T (p.Thr251Ser) c.352A>T (p.Thr118Ser) c.408A>T n.949A>T c.*134A>T (n.*134A>T) | |
| 15 | g.89330185T>C | CA393766994 | POLG | c.751A>G (p.Thr251Ala) c.352A>G (p.Thr118Ala) c.408A>G n.949A>G c.*134A>G (n.*134A>G) | dbSNP |
| 15 | g.89330185T>G | CA393766993 | POLG | c.751A>C (p.Thr251Pro) c.352A>C (p.Thr118Pro) c.408A>C n.949A>C c.*134A>C (n.*134A>C) | ClinVar |
| 15 | g.89330186A>C | CA492080541 | POLG | c.750T>G (p.Pro250=) c.351T>G (p.Pro117=) c.407T>G n.948T>G c.*133T>G (n.*133T>G) | |
| 15 | g.89330186A>G | CA492080543 | POLG | c.750T>C (p.Pro250=) c.351T>C (p.Pro117=) c.407T>C n.948T>C c.*133T>C (n.*133T>C) | |
| 15 | g.89330186A>T | CA492080546 | POLG | c.750T>A (p.Pro250=) c.351T>A (p.Pro117=) c.407T>A n.948T>A c.*133T>A (n.*133T>A) | |
| 15 | g.89330187G>A | CA393766995 | POLG | c.749C>T (p.Pro250Leu) c.350C>T (p.Pro117Leu) c.406C>T n.947C>T c.*132C>T (n.*132C>T) | gnomAD v4 |
| 15 | g.89330187G>C | CA393766996 | POLG | c.749C>G (p.Pro250Arg) c.350C>G (p.Pro117Arg) c.406C>G n.947C>G c.*132C>G (n.*132C>G) | gnomAD v4 |
| 15 | g.89330187G>T | CA393766997 | POLG | c.749C>A (p.Pro250His) c.350C>A (p.Pro117His) c.406C>A n.947C>A c.*132C>A (n.*132C>A) | |
| 15 | g.89330188G>A | CA393766998 | POLG | c.748C>T (p.Pro250Ser) c.349C>T (p.Pro117Ser) c.405C>T n.946C>T c.*131C>T (n.*131C>T) | |
| 15 | g.89330188G>C | CA393766999 | POLG | c.748C>G (p.Pro250Ala) c.349C>G (p.Pro117Ala) c.405C>G n.946C>G c.*131C>G (n.*131C>G) | |
| 15 | g.89330188G>T | CA393767000 | POLG | c.748C>A (p.Pro250Thr) c.349C>A (p.Pro117Thr) c.405C>A n.946C>A c.*131C>A (n.*131C>A) | |
| 15 | g.89330189G>A | CA492080559 | POLG | c.747C>T (p.Val249=) c.348C>T (p.Val116=) c.404C>T n.945C>T c.*130C>T (n.*130C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330189G>C | CA492080563 | POLG | c.747C>G (p.Val249=) c.348C>G (p.Val116=) c.404C>G n.945C>G c.*130C>G (n.*130C>G) | |
| 15 | g.89330189G= | CA2194565375 | POLG | c.747C= (p.Val249=) c.348C= (p.Val116=) c.404C= n.945C= c.*130C= (n.*130C=) | |
| 15 | g.89330189G>T | CA492080561 | POLG | c.747C>A (p.Val249=) c.348C>A (p.Val116=) c.404C>A n.945C>A c.*130C>A (n.*130C>A) | |
| 15 | g.89330190A>C | CA393767001 | POLG | c.746T>G (p.Val249Gly) c.347T>G (p.Val116Gly) c.403T>G n.944T>G c.*129T>G (n.*129T>G) | |
| 15 | g.89330190A>G | CA393767002 | POLG | c.746T>C (p.Val249Ala) c.347T>C (p.Val116Ala) c.403T>C n.944T>C c.*129T>C (n.*129T>C) | gnomAD v4 |
| 15 | g.89330190A>T | CA393767003 | POLG | c.746T>A (p.Val249Asp) c.347T>A (p.Val116Asp) c.403T>A n.944T>A c.*129T>A (n.*129T>A) | |
| 15 | g.89330191C>A | CA393767004 | POLG | c.745G>T (p.Val249Phe) c.346G>T (p.Val116Phe) c.402G>T n.943G>T c.*128G>T (n.*128G>T) | ClinVar gnomAD v4 |
| 15 | g.89330191C>G | CA393767005 | POLG | c.745G>C (p.Val249Leu) c.346G>C (p.Val116Leu) c.402G>C n.943G>C c.*128G>C (n.*128G>C) | |
| 15 | g.89330191C>T | CA393767006 | POLG | c.745G>A (p.Val249Ile) c.346G>A (p.Val116Ile) c.402G>A n.943G>A c.*128G>A (n.*128G>A) | |
| 15 | g.89330192C>A | CA393767007 | POLG | c.744G>T (p.Glu248Asp) c.345G>T (p.Glu115Asp) c.401G>T n.942G>T c.*127G>T (n.*127G>T) | gnomAD v4 |
| 15 | g.89330192C= | CA2194565402 | POLG | c.744G= (p.Glu248=) c.345G= (p.Glu115=) c.401G= n.942G= c.*127G= (n.*127G=) | |
| 15 | g.89330192C>G | CA7725049 | POLG | c.744G>C (p.Glu248Asp) c.345G>C (p.Glu115Asp) c.401G>C n.942G>C c.*127G>C (n.*127G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330192C>T | CA492080580 | POLG | c.744G>A (p.Glu248=) c.345G>A (p.Glu115=) c.401G>A n.942G>A c.*127G>A (n.*127G>A) | gnomAD v4 |
| 15 | g.89330193T>A | CA393767008 | POLG | c.743A>T (p.Glu248Val) c.344A>T (p.Glu115Val) c.400A>T n.941A>T c.*126A>T (n.*126A>T) | |
| 15 | g.89330193T>C | CA393767009 | POLG | c.743A>G (p.Glu248Gly) c.344A>G (p.Glu115Gly) c.400A>G n.941A>G c.*126A>G (n.*126A>G) | |
| 15 | g.89330193T>G | CA393767010 | POLG | c.743A>C (p.Glu248Ala) c.344A>C (p.Glu115Ala) c.400A>C n.941A>C c.*126A>C (n.*126A>C) | gnomAD v4 |
| 15 | g.89330194C>A | CA393767011 | POLG | c.742G>T (p.Glu248Ter) c.343G>T (p.Glu115Ter) c.399G>T n.940G>T c.*125G>T (n.*125G>T) | |
| 15 | g.89330194C>G | CA393767012 | POLG | c.742G>C (p.Glu248Gln) c.343G>C (p.Glu115Gln) c.399G>C n.940G>C c.*125G>C (n.*125G>C) | |
| 15 | g.89330194C>T | CA393767013 | POLG | c.742G>A (p.Glu248Lys) c.343G>A (p.Glu115Lys) c.399G>A n.940G>A c.*125G>A (n.*125G>A) | dbSNP |
| 15 | g.89330195C>A | CA492080593 | POLG | c.741G>T (p.Leu247=) c.342G>T (p.Leu114=) c.398G>T n.939G>T c.*124G>T (n.*124G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330195C= | CA2194565408 | POLG | c.741G= (p.Leu247=) c.342G= (p.Leu114=) c.398G= n.939G= c.*124G= (n.*124G=) | |
| 15 | g.89330195C>G | CA492080595 | POLG | c.741G>C (p.Leu247=) c.342G>C (p.Leu114=) c.398G>C n.939G>C c.*124G>C (n.*124G>C) | |
| 15 | g.89330195C>T | CA492080597 | POLG | c.741G>A (p.Leu247=) c.342G>A (p.Leu114=) c.398G>A n.939G>A c.*124G>A (n.*124G>A) | |
| 15 | g.89330196A>C | CA393767014 | POLG | c.740T>G (p.Leu247Arg) c.341T>G (p.Leu114Arg) c.397T>G n.938T>G c.*123T>G (n.*123T>G) | |
| 15 | g.89330196A>G | CA393767015 | POLG | c.740T>C (p.Leu247Pro) c.341T>C (p.Leu114Pro) c.397T>C n.938T>C c.*123T>C (n.*123T>C) | gnomAD v4 |
| 15 | g.89330196A>T | CA393767016 | POLG | c.740T>A (p.Leu247Gln) c.341T>A (p.Leu114Gln) c.397T>A n.938T>A c.*123T>A (n.*123T>A) | |
| 15 | g.89330197G>A | CA492080606 | POLG | c.739C>T (p.Leu247=) c.340C>T (p.Leu114=) c.396C>T n.937C>T c.*122C>T (n.*122C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330197G>C | CA7725050 | POLG | c.739C>G (p.Leu247Val) c.340C>G (p.Leu114Val) c.396C>G n.937C>G c.*122C>G (n.*122C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330197G= | CA2194565415 | POLG | c.739C= (p.Leu247=) c.340C= (p.Leu114=) c.396C= n.937C= c.*122C= (n.*122C=) | |
| 15 | g.89330197G>T | CA393767017 | POLG | c.739C>A (p.Leu247Met) c.340C>A (p.Leu114Met) c.396C>A n.937C>A c.*122C>A (n.*122C>A) | |
| 15 | g.89330201dup | CA2739269689 | POLG | c.739dup (p.Leu247ProfsTer28) c.340dup (p.Leu114ProfsTer28) c.396dup n.937dup c.*122dup (n.*122dup) | ClinVar |
| 15 | g.89330198G>A | CA492080611 | POLG | c.738C>T (p.Pro246=) c.339C>T (p.Pro113=) c.395C>T n.936C>T c.*121C>T (n.*121C>T) | |
| 15 | g.89330198G>C | CA492080613 | POLG | c.738C>G (p.Pro246=) c.339C>G (p.Pro113=) c.395C>G n.936C>G c.*121C>G (n.*121C>G) | |
| 15 | g.89330198G>T | CA492080615 | POLG | c.738C>A (p.Pro246=) c.339C>A (p.Pro113=) c.395C>A n.936C>A c.*121C>A (n.*121C>A) | |
| 15 | g.89330199G>A | CA393767019 | POLG | c.737C>T (p.Pro246Leu) c.338C>T (p.Pro113Leu) c.394C>T n.935C>T c.*120C>T (n.*120C>T) | gnomAD v4 |
| 15 | g.89330199G>C | CA393767020 | POLG | c.737C>G (p.Pro246Arg) c.338C>G (p.Pro113Arg) c.394C>G n.935C>G c.*120C>G (n.*120C>G) | |
| 15 | g.89330199G>T | CA393767018 | POLG | c.737C>A (p.Pro246His) c.338C>A (p.Pro113His) c.394C>A n.935C>A c.*120C>A (n.*120C>A) | |
| 15 | g.89330200G>A | CA393767021 | POLG | c.736C>T (p.Pro246Ser) c.337C>T (p.Pro113Ser) c.393C>T n.934C>T c.*119C>T (n.*119C>T) | |
| 15 | g.89330200G>C | CA393767022 | POLG | c.736C>G (p.Pro246Ala) c.337C>G (p.Pro113Ala) c.393C>G n.934C>G c.*119C>G (n.*119C>G) | gnomAD v4 |
| 15 | g.89330200G>T | CA393767023 | POLG | c.736C>A (p.Pro246Thr) c.337C>A (p.Pro113Thr) c.393C>A n.934C>A c.*119C>A (n.*119C>A) | |
| 15 | g.89330201G>A | CA7725051 | POLG | c.735C>T (p.Ile245=) c.336C>T (p.Ile112=) c.392C>T n.933C>T c.*118C>T (n.*118C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89330201G>C | CA393767024 | POLG | c.735C>G (p.Ile245Met) c.336C>G (p.Ile112Met) c.392C>G n.933C>G c.*118C>G (n.*118C>G) | |
| 15 | g.89330201G= | CA2194565432 | POLG | c.735C= (p.Ile245=) c.336C= (p.Ile112=) c.392C= n.933C= c.*118C= (n.*118C=) | |
| 15 | g.89330201G>T | CA492080631 | POLG | c.735C>A (p.Ile245=) c.336C>A (p.Ile112=) c.392C>A n.933C>A c.*118C>A (n.*118C>A) | ClinVar |
| 15 | g.89330202A>C | CA393767029 | POLG | c.734T>G (p.Ile245Ser) c.335T>G (p.Ile112Ser) c.391T>G n.932T>G c.*117T>G (n.*117T>G) | |
| 15 | g.89330202A>G | CA393767027 | POLG | c.734T>C (p.Ile245Thr) c.335T>C (p.Ile112Thr) c.391T>C n.932T>C c.*117T>C (n.*117T>C) | |
| 15 | g.89330202A>T | CA393767025 | POLG | c.734T>A (p.Ile245Asn) c.335T>A (p.Ile112Asn) c.391T>A n.932T>A c.*117T>A (n.*117T>A) | ClinVar |
| 15 | g.89330203T>A | CA393767031 | POLG | c.733A>T (p.Ile245Phe) c.334A>T (p.Ile112Phe) c.390A>T n.931A>T c.*116A>T (n.*116A>T) | |
| 15 | g.89330203T>C | CA393767033 | POLG | c.733A>G (p.Ile245Val) c.334A>G (p.Ile112Val) c.390A>G n.931A>G c.*116A>G (n.*116A>G) | |
| 15 | g.89330203T>G | CA393767035 | POLG | c.733A>C (p.Ile245Leu) c.334A>C (p.Ile112Leu) c.390A>C n.931A>C c.*116A>C (n.*116A>C) | gnomAD v4 |
| 15 | g.89330204G>A | CA492080641 | POLG | c.732C>T (p.Leu244=) c.333C>T (p.Leu111=) c.389C>T n.930C>T c.*115C>T (n.*115C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89330204G>C | CA492080646 | POLG | c.732C>G (p.Leu244=) c.333C>G (p.Leu111=) c.389C>G n.930C>G c.*115C>G (n.*115C>G) | |
| 15 | g.89330204G= | CA2194565438 | POLG | c.732C= (p.Leu244=) c.333C= (p.Leu111=) c.389C= n.930C= c.*115C= (n.*115C=) | |
| 15 | g.89330204G>T | CA492080643 | POLG | c.732C>A (p.Leu244=) c.333C>A (p.Leu111=) c.389C>A n.930C>A c.*115C>A (n.*115C>A) | |
| 15 | g.89330205A>C | CA393767037 | POLG | c.731T>G (p.Leu244Arg) c.332T>G (p.Leu111Arg) c.388T>G n.929T>G c.*114T>G (n.*114T>G) | |
| 15 | g.89330205A>G | CA393767039 | POLG | c.731T>C (p.Leu244Pro) c.332T>C (p.Leu111Pro) c.388T>C n.929T>C c.*114T>C (n.*114T>C) | |
| 15 | g.89330205A>T | CA393767041 | POLG | c.731T>A (p.Leu244His) c.332T>A (p.Leu111His) c.388T>A n.929T>A c.*114T>A (n.*114T>A) | |
| 15 | g.89330206G>A | CA393767043 | POLG | c.730C>T (p.Leu244Phe) c.331C>T (p.Leu111Phe) c.387C>T n.928C>T c.*113C>T (n.*113C>T) | ClinVar |
| 15 | g.89330206G>C | CA7725052 | POLG | c.730C>G (p.Leu244Val) c.331C>G (p.Leu111Val) c.387C>G n.928C>G c.*113C>G (n.*113C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330206G= | CA2194565449 | POLG | c.730C= (p.Leu244=) c.331C= (p.Leu111=) c.387C= n.928C= c.*113C= (n.*113C=) | |
| 15 | g.89330206G>T | CA393767045 | POLG | c.730C>A (p.Leu244Ile) c.331C>A (p.Leu111Ile) c.387C>A n.928C>A c.*113C>A (n.*113C>A) | |
| 15 | g.89330207G>A | CA492080650 | POLG | c.729C>T (p.Asp243=) c.330C>T (p.Asp110=) c.386C>T n.927C>T c.*112C>T (n.*112C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330207G>C | CA393767048 | POLG | c.729C>G (p.Asp243Glu) c.330C>G (p.Asp110Glu) c.386C>G n.927C>G c.*112C>G (n.*112C>G) | |
| 15 | g.89330207G= | CA2194565457 | POLG | c.729C= (p.Asp243=) c.330C= (p.Asp110=) c.386C= n.927C= c.*112C= (n.*112C=) | |
| 15 | g.89330207G>T | CA7725053 | POLG | c.729C>A (p.Asp243Glu) c.330C>A (p.Asp110Glu) c.386C>A n.927C>A c.*112C>A (n.*112C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330207_89330208insGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTC | CA2805168216 | POLG | c.728_729insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC (p.Asp243GlufsTer3) c.329_330insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC (p.Asp110GlufsTer3) c.385_386insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC n.926_927insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC c.*111_*112insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC (n.*111_*112insGACATAACAGAAATCTCATAGGATTAATAGGAGGGTTGGAACAATGCCTGCATGTCAAACACTCAGCAC) | |
| 15 | g.89330208T>A | CA393767051 | POLG,POLGARF | c.728A>T (p.Asp243Val) c.783A>T (p.Ter261Cys) c.329A>T (p.Asp110Val) c.385A>T n.926A>T c.*111A>T (n.*111A>T) | |
| 15 | g.89330208T>C | CA393767053 | POLG,POLGARF | c.728A>G (p.Asp243Gly) c.783A>G (p.Ter261Trp) c.329A>G (p.Asp110Gly) c.385A>G n.926A>G c.*111A>G (n.*111A>G) | |
| 15 | g.89330208T>G | CA393767055 | POLG,POLGARF | c.728A>C (p.Asp243Ala) c.783A>C (p.Ter261Cys) c.329A>C (p.Asp110Ala) c.385A>C n.926A>C c.*111A>C (n.*111A>C) | |
| 15 | g.89330209C>A | CA393767057 | POLG,POLGARF | c.727G>T (p.Asp243Tyr) c.782G>T (p.Ter261Leu) c.328G>T (p.Asp110Tyr) c.384G>T n.925G>T c.*110G>T (n.*110G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330209C= | CA2194565473 | POLG,POLGARF | c.727G= (p.Asp243=) c.782G= (p.Ter261=) c.328G= (p.Asp110=) c.384G= n.925G= c.*110G= (n.*110G=) | |
| 15 | g.89330209C>G | CA393767059 | POLG,POLGARF | c.727G>C (p.Asp243His) c.782G>C (p.Ter261Ser) c.328G>C (p.Asp110His) c.384G>C n.925G>C c.*110G>C (n.*110G>C) | |
| 15 | g.89330209C>T | CA393767061 | POLG,POLGARF | c.727G>A (p.Asp243Asn) c.782G>A (p.Ter261=) c.328G>A (p.Asp110Asn) c.384G>A n.925G>A c.*110G>A (n.*110G>A) | |
| 15 | g.89330210A= | CA2194565487 | POLG,POLGARF | c.726T= (p.Ala242=) c.781T= (p.Ter261=) c.327T= (p.Ala109=) c.383T= n.924T= c.*109T= (n.*109T=) | |
| 15 | g.89330210A>C | CA492080651 | POLG,POLGARF | c.726T>G (p.Ala242=) c.781T>G (p.Ter261Gly) c.327T>G (p.Ala109=) c.383T>G n.924T>G c.*109T>G (n.*109T>G) | |
| 15 | g.89330210A>G | CA492080652 | POLG,POLGARF | c.726T>C (p.Ala242=) c.781T>C (p.Ter261Arg) c.327T>C (p.Ala109=) c.383T>C n.924T>C c.*109T>C (n.*109T>C) | |
| 15 | g.89330210A>T | CA492080653 | POLG,POLGARF | c.726T>A (p.Ala242=) c.781T>A (p.Ter261Arg) c.327T>A (p.Ala109=) c.383T>A n.924T>A c.*109T>A (n.*109T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330211G>A | CA393767062 | POLG,POLGARF | c.725C>T (p.Ala242Val) c.780C>T (p.Gly260=) c.326C>T (p.Ala109Val) c.100C>T c.382C>T n.923C>T c.*108C>T (n.*108C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330211G>C | CA393767064 | POLG,POLGARF | c.725C>G (p.Ala242Gly) c.780C>G (p.Gly260=) c.326C>G (p.Ala109Gly) c.100C>G c.382C>G n.923C>G c.*108C>G (n.*108C>G) | |
| 15 | g.89330211G= | CA2194565491 | POLG,POLGARF | c.725C= (p.Ala242=) c.780C= (p.Gly260=) c.326C= (p.Ala109=) c.100C= c.382C= n.923C= c.*108C= (n.*108C=) | |
| 15 | g.89330211G>T | CA393767066 | POLG,POLGARF | c.725C>A (p.Ala242Asp) c.780C>A (p.Gly260=) c.326C>A (p.Ala109Asp) c.100C>A c.382C>A n.923C>A c.*108C>A (n.*108C>A) | ClinVar gnomAD v4 |
| 15 | g.89330212C>A | CA393767071 | POLG,POLGARF | c.724G>T (p.Ala242Ser) c.779G>T (p.Gly260Val) c.325G>T (p.Ala109Ser) c.99G>T c.381G>T n.922G>T c.*107G>T (n.*107G>T) | |
| 15 | g.89330212C>G | CA393767070 | POLG,POLGARF | c.724G>C (p.Ala242Pro) c.779G>C (p.Gly260Ala) c.325G>C (p.Ala109Pro) c.99G>C c.381G>C n.922G>C c.*107G>C (n.*107G>C) | |
| 15 | g.89330212C>T | CA393767068 | POLG,POLGARF | c.724G>A (p.Ala242Thr) c.779G>A (p.Gly260Asp) c.325G>A (p.Ala109Thr) c.99G>A c.381G>A n.922G>A c.*107G>A (n.*107G>A) | |
| 15 | g.89330213C>A | CA492080655 | POLG,POLGARF | c.723G>T (p.Pro241=) c.778G>T (p.Gly260Cys) c.324G>T (p.Pro108=) c.98G>T c.380G>T n.921G>T c.*106G>T (n.*106G>T) | |
| 15 | g.89330213C= | CA2194565504 | POLG,POLGARF | c.723G= (p.Pro241=) c.778G= (p.Gly260=) c.324G= (p.Pro108=) c.98G= c.380G= n.921G= c.*106G= (n.*106G=) | |
| 15 | g.89330213C>G | CA492080654 | POLG,POLGARF | c.723G>C (p.Pro241=) c.778G>C (p.Gly260Arg) c.324G>C (p.Pro108=) c.98G>C c.380G>C n.921G>C c.*106G>C (n.*106G>C) | |
| 15 | g.89330213C>T | CA16607075 | POLG,POLGARF | c.723G>A (p.Pro241=) c.778G>A (p.Gly260Ser) c.324G>A (p.Pro108=) c.98G>A c.380G>A n.921G>A c.*106G>A (n.*106G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.89330214G>A | CA393767074 | POLG,POLGARF | c.722C>T (p.Pro241Leu) c.777C>T (p.Ala259=) c.323C>T (p.Pro108Leu) c.97C>T c.379C>T n.920C>T c.*105C>T (n.*105C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89330214G>C | CA393767078 | POLG,POLGARF | c.722C>G (p.Pro241Arg) c.777C>G (p.Ala259=) c.323C>G (p.Pro108Arg) c.97C>G c.379C>G n.920C>G c.*105C>G (n.*105C>G) | |
| 15 | g.89330214G= | CA2194565508 | POLG,POLGARF | c.722C= (p.Pro241=) c.777C= (p.Ala259=) c.323C= (p.Pro108=) c.97C= c.379C= n.920C= c.*105C= (n.*105C=) | |
| 15 | g.89330214G>T | CA393767076 | POLG,POLGARF | c.722C>A (p.Pro241Gln) c.777C>A (p.Ala259=) c.323C>A (p.Pro108Gln) c.97C>A c.379C>A n.920C>A c.*105C>A (n.*105C>A) | |
| 15 | g.89330215G>A | CA393767080 | POLG,POLGARF | c.721C>T (p.Pro241Ser) c.776C>T (p.Ala259Val) c.322C>T (p.Pro108Ser) c.96C>T c.378C>T n.919C>T c.*104C>T (n.*104C>T) | |
| 15 | g.89330215G>C | CA393767083 | POLG,POLGARF | c.721C>G (p.Pro241Ala) c.776C>G (p.Ala259Gly) c.322C>G (p.Pro108Ala) c.96C>G c.378C>G n.919C>G c.*104C>G (n.*104C>G) | |
| 15 | g.89330215G>T | CA393767082 | POLG,POLGARF | c.721C>A (p.Pro241Thr) c.776C>A (p.Ala259Asp) c.322C>A (p.Pro108Thr) c.96C>A c.378C>A n.919C>A c.*104C>A (n.*104C>A) | |
| 15 | g.89330216C>A | CA492080656 | POLG,POLGARF | c.720G>T (p.Ser240=) c.775G>T (p.Ala259Ser) c.321G>T (p.Ser107=) c.95G>T c.377G>T n.918G>T c.*103G>T (n.*103G>T) | |
| 15 | g.89330216C= | CA2194565517 | POLG,POLGARF | c.720G= (p.Ser240=) c.775G= (p.Ala259=) c.321G= (p.Ser107=) c.95G= c.377G= n.918G= c.*103G= (n.*103G=) | |
| 15 | g.89330216C>G | CA492080657 | POLG,POLGARF | c.720G>C (p.Ser240=) c.775G>C (p.Ala259Pro) c.321G>C (p.Ser107=) c.95G>C c.377G>C n.918G>C c.*103G>C (n.*103G>C) | dbSNP |
| 15 | g.89330216C>T | CA492080658 | POLG,POLGARF | c.720G>A (p.Ser240=) c.775G>A (p.Ala259Thr) c.321G>A (p.Ser107=) c.95G>A c.377G>A n.918G>A c.*103G>A (n.*103G>A) | ClinVar gnomAD v4 |
| 15 | g.89330217G>A | CA316808 | POLG,POLGARF | c.719C>T (p.Ser240Leu) c.774C>T (p.Val258=) c.320C>T (p.Ser107Leu) c.94C>T c.376C>T n.917C>T c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89330217G>C | CA7725054 | POLG,POLGARF | c.719C>G (p.Ser240Trp) c.774C>G (p.Val258=) c.320C>G (p.Ser107Trp) c.94C>G c.376C>G n.917C>G c.*102C>G (n.*102C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330217G= | CA2194565527 | POLG,POLGARF | c.719C= (p.Ser240=) c.774C= (p.Val258=) c.320C= (p.Ser107=) c.94C= c.376C= n.917C= c.*102C= (n.*102C=) | |
| 15 | g.89330217G>T | CA393767087 | POLG,POLGARF | c.719C>A (p.Ser240Ter) c.774C>A (p.Val258=) c.320C>A (p.Ser107Ter) c.94C>A c.376C>A n.917C>A c.*102C>A (n.*102C>A) | COSMIC |
| 15 | g.89330218A>C | CA393767091 | POLG,POLGARF | c.718T>G (p.Ser240Ala) c.773T>G (p.Val258Gly) c.319T>G (p.Ser107Ala) c.93T>G c.375T>G n.916T>G c.*101T>G (n.*101T>G) | |
| 15 | g.89330218A>G | CA393767093 | POLG,POLGARF | c.718T>C (p.Ser240Pro) c.773T>C (p.Val258Ala) c.319T>C (p.Ser107Pro) c.93T>C c.375T>C n.916T>C c.*101T>C (n.*101T>C) | ClinVar dbSNP |
| 15 | g.89330218A>T | CA393767094 | POLG,POLGARF | c.718T>A (p.Ser240Thr) c.773T>A (p.Val258Asp) c.319T>A (p.Ser107Thr) c.93T>A c.375T>A n.916T>A c.*101T>A (n.*101T>A) | |
| 15 | g.89330219C>A | CA492080659 | POLG,POLGARF | c.717G>T (p.Leu239=) c.772G>T (p.Val258Phe) c.318G>T (p.Leu106=) c.92G>T c.374G>T n.915G>T c.*100G>T (n.*100G>T) | |
| 15 | g.89330219C= | CA2194565543 | POLG,POLGARF | c.717G= (p.Leu239=) c.772G= (p.Val258=) c.318G= (p.Leu106=) c.92G= c.374G= n.915G= c.*100G= (n.*100G=) | |
| 15 | g.89330219C>G | CA492080660 | POLG,POLGARF | c.717G>C (p.Leu239=) c.772G>C (p.Val258Leu) c.318G>C (p.Leu106=) c.92G>C c.374G>C n.915G>C c.*100G>C (n.*100G>C) | |
| 15 | g.89330219C>T | CA492080661 | POLG,POLGARF | c.717G>A (p.Leu239=) c.772G>A (p.Val258Ile) c.318G>A (p.Leu106=) c.92G>A c.374G>A n.915G>A c.*100G>A (n.*100G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89330220A>C | CA393767097 | POLG,POLGARF | c.716T>G (p.Leu239Arg) c.771T>G (p.Ala257=) c.317T>G (p.Leu106Arg) c.91T>G c.373T>G n.914T>G c.*99T>G (n.*99T>G) | |
| 15 | g.89330220A>G | CA393767099 | POLG,POLGARF | c.716T>C (p.Leu239Pro) c.771T>C (p.Ala257=) c.317T>C (p.Leu106Pro) c.91T>C c.373T>C n.914T>C c.*99T>C (n.*99T>C) | |
| 15 | g.89330220A>T | CA393767100 | POLG,POLGARF | c.716T>A (p.Leu239Gln) c.771T>A (p.Ala257=) c.317T>A (p.Leu106Gln) c.91T>A c.373T>A n.914T>A c.*99T>A (n.*99T>A) | |
| 15 | g.89330221G>A | CA492080662 | POLG,POLGARF | c.715C>T (p.Leu239=) c.770C>T (p.Ala257Val) c.316C>T (p.Leu106=) c.90C>T c.372C>T n.913C>T c.*98C>T (n.*98C>T) | dbSNP |
| 15 | g.89330221G>C | CA7725055 | POLG,POLGARF | c.715C>G (p.Leu239Val) c.770C>G (p.Ala257Gly) c.316C>G (p.Leu106Val) c.90C>G c.372C>G n.913C>G c.*98C>G (n.*98C>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330221G= | CA2194565550 | POLG,POLGARF | c.715C= (p.Leu239=) c.770C= (p.Ala257=) c.316C= (p.Leu106=) c.90C= c.372C= n.913C= c.*98C= (n.*98C=) | |
| 15 | g.89330221G>T | CA393767103 | POLG,POLGARF | c.715C>A (p.Leu239Met) c.770C>A (p.Ala257Asp) c.316C>A (p.Leu106Met) c.90C>A c.372C>A n.913C>A c.*98C>A (n.*98C>A) | gnomAD v4 |
| 15 | g.89330222C>A | CA393767105 | POLG,POLGARF | c.714G>T (p.Gln238His) c.769G>T (p.Ala257Ser) c.315G>T (p.Gln105His) c.89G>T c.371G>T n.912G>T c.*97G>T (n.*97G>T) | |
| 15 | g.89330222C>G | CA393767106 | POLG,POLGARF | c.714G>C (p.Gln238His) c.769G>C (p.Ala257Pro) c.315G>C (p.Gln105His) c.89G>C c.371G>C n.912G>C c.*97G>C (n.*97G>C) | |
| 15 | g.89330222C>T | CA492080663 | POLG,POLGARF | c.714G>A (p.Gln238=) c.769G>A (p.Ala257Thr) c.315G>A (p.Gln105=) c.89G>A c.371G>A n.912G>A c.*97G>A (n.*97G>A) | |
| 15 | g.89330223T>A | CA393767112 | POLG,POLGARF | c.713A>T (p.Gln238Leu) c.768A>T (p.Pro256=) c.314A>T (p.Gln105Leu) c.88A>T c.370A>T n.911A>T c.*96A>T (n.*96A>T) | |
| 15 | g.89330223T>C | CA7725056 | POLG,POLGARF | c.713A>G (p.Gln238Arg) c.768A>G (p.Pro256=) c.314A>G (p.Gln105Arg) c.88A>G c.370A>G n.911A>G c.*96A>G (n.*96A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89330223T>G | CA393767109 | POLG,POLGARF | c.713A>C (p.Gln238Pro) c.768A>C (p.Pro256=) c.314A>C (p.Gln105Pro) c.88A>C c.370A>C n.911A>C c.*96A>C (n.*96A>C) | |
| 15 | g.89330223T= | CA2194565561 | POLG,POLGARF | c.713A= (p.Gln238=) c.768A= (p.Pro256=) c.314A= (p.Gln105=) c.88A= c.370A= n.911A= c.*96A= (n.*96A=) | |
| 15 | g.89330224G>A | CA393767114 | POLG,POLGARF | c.712C>T (p.Gln238Ter) c.767C>T (p.Pro256Leu) c.313C>T (p.Gln105Ter) c.87C>T c.369C>T n.910C>T c.*95C>T (n.*95C>T) | dbSNP gnomAD v2 |
| 15 | g.89330224G>C | CA393767116 | POLG,POLGARF | c.712C>G (p.Gln238Glu) c.767C>G (p.Pro256Arg) c.313C>G (p.Gln105Glu) c.87C>G c.369C>G n.910C>G c.*95C>G (n.*95C>G) | |
| 15 | g.89330224G= | CA2194565575 | POLG,POLGARF | c.712C= (p.Gln238=) c.767C= (p.Pro256=) c.313C= (p.Gln105=) c.87C= c.369C= n.910C= c.*95C= (n.*95C=) | |
| 15 | g.89330224G>T | CA393767118 | POLG,POLGARF | c.712C>A (p.Gln238Lys) c.767C>A (p.Pro256Gln) c.313C>A (p.Gln105Lys) c.87C>A c.369C>A n.910C>A c.*95C>A (n.*95C>A) | |
| 15 | g.89330225G>A | CA492080664 | POLG,POLGARF | c.711C>T (p.Ser237=) c.766C>T (p.Pro256Ser) c.312C>T (p.Ser104=) c.86C>T c.368C>T n.909C>T c.*94C>T (n.*94C>T) | |
| 15 | g.89330225G>C | CA274560287 | POLG,POLGARF | c.711C>G (p.Ser237Arg) c.766C>G (p.Pro256Ala) c.312C>G (p.Ser104Arg) c.86C>G c.368C>G n.909C>G c.*94C>G (n.*94C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330225G= | CA2194565580 | POLG,POLGARF | c.711C= (p.Ser237=) c.766C= (p.Pro256=) c.312C= (p.Ser104=) c.86C= c.368C= n.909C= c.*94C= (n.*94C=) | |
| 15 | g.89330225G>T | CA393767121 | POLG,POLGARF | c.711C>A (p.Ser237Arg) c.766C>A (p.Pro256Thr) c.312C>A (p.Ser104Arg) c.86C>A c.368C>A n.909C>A c.*94C>A (n.*94C>A) | dbSNP gnomAD v4 |
| 15 | g.89330226C>A | CA393767124 | POLG,POLGARF | c.710G>T (p.Ser237Ile) c.765G>T (p.Gln255His) c.311G>T (p.Ser104Ile) c.85G>T c.367G>T n.908G>T c.*93G>T (n.*93G>T) | dbSNP gnomAD v4 |
| 15 | g.89330226C= | CA2194565591 | POLG,POLGARF | c.710G= (p.Ser237=) c.765G= (p.Gln255=) c.311G= (p.Ser104=) c.85G= c.367G= n.908G= c.*93G= (n.*93G=) | |
| 15 | g.89330226C>G | CA393767125 | POLG,POLGARF | c.710G>C (p.Ser237Thr) c.765G>C (p.Gln255His) c.311G>C (p.Ser104Thr) c.85G>C c.367G>C n.908G>C c.*93G>C (n.*93G>C) | COSMIC |
| 15 | g.89330226C>T | CA393767127 | POLG,POLGARF | c.710G>A (p.Ser237Asn) c.765G>A (p.Gln255=) c.311G>A (p.Ser104Asn) c.85G>A c.367G>A n.908G>A c.*93G>A (n.*93G>A) | dbSNP gnomAD v4 |
| 15 | g.89330227T>A | CA393767129 | POLG,POLGARF | c.709A>T (p.Ser237Cys) c.764A>T (p.Gln255Leu) c.310A>T (p.Ser104Cys) c.84A>T c.366A>T n.907A>T c.*92A>T (n.*92A>T) | |
| 15 | g.89330227T>C | CA393767131 | POLG,POLGARF | c.709A>G (p.Ser237Gly) c.764A>G (p.Gln255Arg) c.310A>G (p.Ser104Gly) c.84A>G c.366A>G n.907A>G c.*92A>G (n.*92A>G) | |
| 15 | g.89330227T>G | CA393767133 | POLG,POLGARF | c.709A>C (p.Ser237Arg) c.764A>C (p.Gln255Pro) c.310A>C (p.Ser104Arg) c.84A>C c.366A>C n.907A>C c.*92A>C (n.*92A>C) | |
| 15 | g.89330228G>A | CA492080667 | POLG,POLGARF | c.708C>T (p.Thr236=) c.763C>T (p.Gln255Ter) c.309C>T (p.Thr103=) c.83C>T c.365C>T n.906C>T c.*91C>T (n.*91C>T) | |
| 15 | g.89330228G>C | CA492080666 | POLG,POLGARF | c.708C>G (p.Thr236=) c.763C>G (p.Gln255Glu) c.309C>G (p.Thr103=) c.83C>G c.365C>G n.906C>G c.*91C>G (n.*91C>G) | |
| 15 | g.89330228G>T | CA492080665 | POLG,POLGARF | c.708C>A (p.Thr236=) c.763C>A (p.Gln255Lys) c.309C>A (p.Thr103=) c.83C>A c.365C>A n.906C>A c.*91C>A (n.*91C>A) | |
| 15 | g.89330229G>A | CA393767139 | POLG,POLGARF | c.707C>T (p.Thr236Ile) c.762C>T (p.Asp254=) c.308C>T (p.Thr103Ile) c.82C>T c.364C>T n.905C>T c.*90C>T (n.*90C>T) | gnomAD v4 |
| 15 | g.89330229G>C | CA393767137 | POLG,POLGARF | c.707C>G (p.Thr236Ser) c.762C>G (p.Asp254Glu) c.308C>G (p.Thr103Ser) c.82C>G c.364C>G n.905C>G c.*90C>G (n.*90C>G) | |
| 15 | g.89330229G>T | CA393767135 | POLG,POLGARF | c.707C>A (p.Thr236Asn) c.762C>A (p.Asp254Glu) c.308C>A (p.Thr103Asn) c.82C>A c.364C>A n.905C>A c.*90C>A (n.*90C>A) | |
| 15 | g.89330230T>A | CA393767140 | POLG,POLGARF | c.706A>T (p.Thr236Ser) c.761A>T (p.Asp254Val) c.307A>T (p.Thr103Ser) c.81A>T c.363A>T n.904A>T c.*89A>T (n.*89A>T) | |
| 15 | g.89330230T>C | CA393767142 | POLG,POLGARF | c.706A>G (p.Thr236Ala) c.761A>G (p.Asp254Gly) c.307A>G (p.Thr103Ala) c.81A>G c.363A>G n.904A>G c.*89A>G (n.*89A>G) | dbSNP |
| 15 | g.89330230T>G | CA393767144 | POLG,POLGARF | c.706A>C (p.Thr236Pro) c.761A>C (p.Asp254Ala) c.307A>C (p.Thr103Pro) c.81A>C c.363A>C n.904A>C c.*89A>C (n.*89A>C) | |
| 15 | g.89330230T= | CA2194565596 | POLG,POLGARF | c.706A= (p.Thr236=) c.761A= (p.Asp254=) c.307A= (p.Thr103=) c.81A= c.363A= n.904A= c.*89A= (n.*89A=) | |
| 15 | g.89330231C>A | CA393767146 | POLG,POLGARF | c.705G>T (p.Trp235Cys) c.760G>T (p.Asp254Tyr) c.306G>T (p.Trp102Cys) c.80G>T c.362G>T n.903G>T c.*88G>T (n.*88G>T) | |
| 15 | g.89330231C= | CA2194565606 | POLG,POLGARF | c.705G= (p.Trp235=) c.760G= (p.Asp254=) c.306G= (p.Trp102=) c.80G= c.362G= n.903G= c.*88G= (n.*88G=) | |
| 15 | g.89330231C>G | CA393767148 | POLG,POLGARF | c.705G>C (p.Trp235Cys) c.760G>C (p.Asp254His) c.306G>C (p.Trp102Cys) c.80G>C c.362G>C n.903G>C c.*88G>C (n.*88G>C) | |
| 15 | g.89330231C>T | CA10602297 | POLG,POLGARF | c.705G>A (p.Trp235Ter) c.760G>A (p.Asp254Asn) c.306G>A (p.Trp102Ter) c.80G>A c.362G>A n.903G>A c.*88G>A (n.*88G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89330232C>A | CA393767150 | POLG,POLGARF | c.704G>T (p.Trp235Leu) c.759G>T (p.Leu253Phe) c.305G>T (p.Trp102Leu) c.79G>T c.361G>T n.902G>T c.*87G>T (n.*87G>T) | |
| 15 | g.89330232C>G | CA393767152 | POLG,POLGARF | c.704G>C (p.Trp235Ser) c.759G>C (p.Leu253Phe) c.305G>C (p.Trp102Ser) c.79G>C c.361G>C n.902G>C c.*87G>C (n.*87G>C) | |
| 15 | g.89330232C>T | CA393767153 | POLG,POLGARF | c.704G>A (p.Trp235Ter) c.759G>A (p.Leu253=) c.305G>A (p.Trp102Ter) c.79G>A c.361G>A n.902G>A c.*87G>A (n.*87G>A) | |
| 15 | g.89330233A>C | CA393767155 | POLG,POLGARF | c.703T>G (p.Trp235Gly) c.758T>G (p.Leu253Trp) c.304T>G (p.Trp102Gly) c.78T>G c.360T>G n.901T>G c.*86T>G (n.*86T>G) | |
| 15 | g.89330233A>G | CA393767157 | POLG,POLGARF | c.703T>C (p.Trp235Arg) c.758T>C (p.Leu253Ser) c.304T>C (p.Trp102Arg) c.78T>C c.360T>C n.901T>C c.*86T>C (n.*86T>C) | COSMIC |
| 15 | g.89330233A>T | CA393767158 | POLG,POLGARF | c.703T>A (p.Trp235Arg) c.758T>A (p.Leu253Ter) c.304T>A (p.Trp102Arg) c.78T>A c.360T>A n.901T>A c.*86T>A (n.*86T>A) | |
| 15 | g.89330234A>C | CA492080668 | POLG,POLGARF | c.702T>G (p.Ser234=) c.757T>G (p.Leu253Val) c.303T>G (p.Ser101=) c.77T>G c.359T>G n.900T>G c.*85T>G (n.*85T>G) | |
| 15 | g.89330234A>G | CA492080669 | POLG,POLGARF | c.702T>C (p.Ser234=) c.757T>C (p.Leu253=) c.303T>C (p.Ser101=) c.77T>C c.359T>C n.900T>C c.*85T>C (n.*85T>C) | ClinVar dbSNP |
| 15 | g.89330234A>T | CA492080670 | POLG,POLGARF | c.702T>A (p.Ser234=) c.757T>A (p.Leu253Met) c.303T>A (p.Ser101=) c.77T>A c.359T>A n.900T>A c.*85T>A (n.*85T>A) | |
| 15 | g.89330235G>A | CA393767164 | POLG,POLGARF | c.701C>T (p.Ser234Phe) c.756C>T (p.Leu252=) c.302C>T (p.Ser101Phe) c.76C>T c.358C>T n.899C>T c.*84C>T (n.*84C>T) | |
| 15 | g.89330235G>C | CA393767160 | POLG,POLGARF | c.701C>G (p.Ser234Cys) c.756C>G (p.Leu252=) c.302C>G (p.Ser101Cys) c.76C>G c.358C>G n.899C>G c.*84C>G (n.*84C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330235G= | CA2194565614 | POLG,POLGARF | c.701C= (p.Ser234=) c.756C= (p.Leu252=) c.302C= (p.Ser101=) c.76C= c.358C= n.899C= c.*84C= (n.*84C=) | |
| 15 | g.89330235G>T | CA393767162 | POLG,POLGARF | c.701C>A (p.Ser234Tyr) c.756C>A (p.Leu252=) c.302C>A (p.Ser101Tyr) c.76C>A c.358C>A n.899C>A c.*84C>A (n.*84C>A) | |
| 15 | g.89330236A>C | CA393767166 | POLG,POLGARF | c.700T>G (p.Ser234Ala) c.755T>G (p.Leu252Arg) c.301T>G (p.Ser101Ala) c.75T>G c.357T>G n.898T>G c.*83T>G (n.*83T>G) | |
| 15 | g.89330236A>G | CA393767175 | POLG,POLGARF | c.700T>C (p.Ser234Pro) c.755T>C (p.Leu252Pro) c.301T>C (p.Ser101Pro) c.75T>C c.357T>C n.898T>C c.*83T>C (n.*83T>C) | |
| 15 | g.89330236A>T | CA393767177 | POLG,POLGARF | c.700T>A (p.Ser234Thr) c.755T>A (p.Leu252His) c.301T>A (p.Ser101Thr) c.75T>A c.357T>A n.898T>A c.*83T>A (n.*83T>A) | |
| 15 | g.89330237G>A | CA492080671 | POLG,POLGARF | c.699C>T (p.Tyr233=) c.754C>T (p.Leu252Phe) c.300C>T (p.Tyr100=) c.74C>T c.356C>T n.897C>T c.*82C>T (n.*82C>T) | |
| 15 | g.89330237G>C | CA393767180 | POLG,POLGARF | c.699C>G (p.Tyr233Ter) c.754C>G (p.Leu252Val) c.300C>G (p.Tyr100Ter) c.74C>G c.356C>G n.897C>G c.*82C>G (n.*82C>G) | |
| 15 | g.89330237G= | CA2194565629 | POLG,POLGARF | c.699C= (p.Tyr233=) c.754C= (p.Leu252=) c.300C= (p.Tyr100=) c.74C= c.356C= n.897C= c.*82C= (n.*82C=) | |
| 15 | g.89330237G>T | CA393767181 | POLG,POLGARF | c.699C>A (p.Tyr233Ter) c.754C>A (p.Leu252Ile) c.300C>A (p.Tyr100Ter) c.74C>A c.356C>A n.897C>A c.*82C>A (n.*82C>A) | |
| 15 | g.89330238T>A | CA393767184 | POLG,POLGARF | c.698A>T (p.Tyr233Phe) c.753A>T (p.Leu251Phe) c.299A>T (p.Tyr100Phe) c.73A>T c.355A>T n.896A>T c.*81A>T (n.*81A>T) | |
| 15 | g.89330238T>C | CA393767186 | POLG,POLGARF | c.698A>G (p.Tyr233Cys) c.753A>G (p.Leu251=) c.299A>G (p.Tyr100Cys) c.73A>G c.355A>G n.896A>G c.*81A>G (n.*81A>G) | |
| 15 | g.89330238T>G | CA393767187 | POLG,POLGARF | c.698A>C (p.Tyr233Ser) c.753A>C (p.Leu251Phe) c.299A>C (p.Tyr100Ser) c.73A>C c.355A>C n.896A>C c.*81A>C (n.*81A>C) | |
| 15 | g.89330238dup | CA10602295 | POLG,POLGARF | c.698dup (p.Tyr233Ter) c.753dup (p.Leu252ThrfsTer?) c.299dup (p.Tyr100Ter) c.73dup c.355dup n.896dup c.*81dup (n.*81dup) | ClinVar dbSNP |
| 15 | g.89330239A>C | CA393767190 | POLG,POLGARF | c.697T>G (p.Tyr233Asp) c.752T>G (p.Leu251Ter) c.298T>G (p.Tyr100Asp) c.72T>G c.354T>G n.895T>G c.*80T>G (n.*80T>G) | |
| 15 | g.89330239A>G | CA393767191 | POLG,POLGARF | c.697T>C (p.Tyr233His) c.752T>C (p.Leu251Ser) c.298T>C (p.Tyr100His) c.72T>C c.354T>C n.895T>C c.*80T>C (n.*80T>C) | |
| 15 | g.89330239A>T | CA393767192 | POLG,POLGARF | c.697T>A (p.Tyr233Asn) c.752T>A (p.Leu251Ter) c.298T>A (p.Tyr100Asn) c.72T>A c.354T>A n.895T>A c.*80T>A (n.*80T>A) | |
| 15 | g.89330240A= | CA2194565634 | POLG,POLGARF | c.696T= (p.Arg232=) c.751T= (p.Leu251=) c.297T= (p.Arg99=) c.71T= c.353T= n.894T= c.*79T= (n.*79T=) | |
| 15 | g.89330240A>C | CA492080672 | POLG,POLGARF | c.696T>G (p.Arg232=) c.751T>G (p.Leu251Val) c.297T>G (p.Arg99=) c.71T>G c.353T>G n.894T>G c.*79T>G (n.*79T>G) | dbSNP |
| 15 | g.89330240A>G | CA492080674 | POLG,POLGARF | c.696T>C (p.Arg232=) c.751T>C (p.Leu251=) c.297T>C (p.Arg99=) c.71T>C c.353T>C n.894T>C c.*79T>C (n.*79T>C) | |
| 15 | g.89330240A>T | CA492080673 | POLG,POLGARF | c.696T>A (p.Arg232=) c.751T>A (p.Leu251Ile) c.297T>A (p.Arg99=) c.71T>A c.353T>A n.894T>A c.*79T>A (n.*79T>A) | |
| 15 | g.89330241C>A | CA393767195 | POLG,POLGARF | c.695G>T (p.Arg232Leu) c.750G>T (p.Ala250=) c.296G>T (p.Arg99Leu) c.70G>T c.352G>T n.893G>T c.*78G>T (n.*78G>T) | COSMIC |
| 15 | g.89330241C= | CA2194565642 | POLG,POLGARF | c.695G= (p.Arg232=) c.750G= (p.Ala250=) c.296G= (p.Arg99=) c.70G= c.352G= n.893G= c.*78G= (n.*78G=) | |
| 15 | g.89330241C>G | CA393767197 | POLG,POLGARF | c.695G>C (p.Arg232Pro) c.750G>C (p.Ala250=) c.296G>C (p.Arg99Pro) c.70G>C c.352G>C n.893G>C c.*78G>C (n.*78G>C) | ClinVar dbSNP |
| 15 | g.89330241C>T | CA341891 | POLG,POLGARF | c.695G>A (p.Arg232His) c.750G>A (p.Ala250=) c.296G>A (p.Arg99His) c.70G>A c.352G>A n.893G>A c.*78G>A (n.*78G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330242G>A | CA16607918 | POLG,POLGARF | c.694C>T (p.Arg232Cys) c.749C>T (p.Ala250Val) c.295C>T (p.Arg99Cys) c.69C>T c.351C>T n.892C>T c.*77C>T (n.*77C>T) | ClinVar dbSNP |
| 15 | g.89330242G>C | CA393767199 | POLG,POLGARF | c.694C>G (p.Arg232Gly) c.749C>G (p.Ala250Gly) c.295C>G (p.Arg99Gly) c.69C>G c.351C>G n.892C>G c.*77C>G (n.*77C>G) | COSMIC |
| 15 | g.89330242G= | CA2194565651 | POLG,POLGARF | c.694C= (p.Arg232=) c.749C= (p.Ala250=) c.295C= (p.Arg99=) c.69C= c.351C= n.892C= c.*77C= (n.*77C=) | |
| 15 | g.89330242G>T | CA7725057 | POLG,POLGARF | c.694C>A (p.Arg232Ser) c.749C>A (p.Ala250Glu) c.295C>A (p.Arg99Ser) c.69C>A c.351C>A n.892C>A c.*77C>A (n.*77C>A) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330243C>A | CA393767203 | POLG,POLGARF | c.693G>T (p.Glu231Asp) c.748G>T (p.Ala250Ser) c.294G>T (p.Glu98Asp) c.68G>T c.350G>T n.891G>T c.*76G>T (n.*76G>T) | |
| 15 | g.89330243C>G | CA393767204 | POLG,POLGARF | c.693G>C (p.Glu231Asp) c.748G>C (p.Ala250Pro) c.294G>C (p.Glu98Asp) c.68G>C c.350G>C n.891G>C c.*76G>C (n.*76G>C) | |
| 15 | g.89330243C>T | CA492080675 | POLG,POLGARF | c.693G>A (p.Glu231=) c.748G>A (p.Ala250Thr) c.294G>A (p.Glu98=) c.68G>A c.350G>A n.891G>A c.*76G>A (n.*76G>A) | |
| 15 | g.89330244T>A | CA393767206 | POLG,POLGARF | c.692A>T (p.Glu231Val) c.747A>T (p.Arg249Ser) c.293A>T (p.Glu98Val) c.67A>T c.349A>T n.890A>T c.*75A>T (n.*75A>T) | |
| 15 | g.89330244T>C | CA7725058 | POLG,POLGARF | c.692A>G (p.Glu231Gly) c.747A>G (p.Arg249=) c.293A>G (p.Glu98Gly) c.67A>G c.349A>G n.890A>G c.*75A>G (n.*75A>G) | dbSNP ExAC |
| 15 | g.89330244T>G | CA393767210 | POLG,POLGARF | c.692A>C (p.Glu231Ala) c.747A>C (p.Arg249Ser) c.293A>C (p.Glu98Ala) c.67A>C c.349A>C n.890A>C c.*75A>C (n.*75A>C) | |
| 15 | g.89330244T= | CA2194565691 | POLG,POLGARF | c.692A= (p.Glu231=) c.747A= (p.Arg249=) c.293A= (p.Glu98=) c.67A= c.349A= n.890A= c.*75A= (n.*75A=) | |
| 15 | g.89330245C>A | CA393767211 | POLG,POLGARF | c.691G>T (p.Glu231Ter) c.746G>T (p.Arg249Ile) c.292G>T (p.Glu98Ter) c.66G>T c.348G>T n.889G>T c.*74G>T (n.*74G>T) | gnomAD v4 |
| 15 | g.89330245C>G | CA393767212 | POLG,POLGARF | c.691G>C (p.Glu231Gln) c.746G>C (p.Arg249Thr) c.292G>C (p.Glu98Gln) c.66G>C c.348G>C n.889G>C c.*74G>C (n.*74G>C) | |
| 15 | g.89330245C>T | CA393767215 | POLG,POLGARF | c.691G>A (p.Glu231Lys) c.746G>A (p.Arg249Lys) c.292G>A (p.Glu98Lys) c.66G>A c.348G>A n.889G>A c.*74G>A (n.*74G>A) | ClinVar |
| 15 | g.89330246T>A | CA393767217 | POLG,POLGARF | c.690A>T (p.Glu230Asp) c.745A>T (p.Arg249Ter) c.291A>T (p.Glu97Asp) c.65A>T c.347A>T n.888A>T c.*73A>T (n.*73A>T) | |
| 15 | g.89330246T>C | CA492080676 | POLG,POLGARF | c.690A>G (p.Glu230=) c.745A>G (p.Arg249Gly) c.291A>G (p.Glu97=) c.65A>G c.347A>G n.888A>G c.*73A>G (n.*73A>G) | |
| 15 | g.89330246T>G | CA393767218 | POLG,POLGARF | c.690A>C (p.Glu230Asp) c.745A>C (p.Arg249=) c.291A>C (p.Glu97Asp) c.65A>C c.347A>C n.888A>C c.*73A>C (n.*73A>C) | |
| 15 | g.89330247del | CA2731472726 | POLG,POLGARF | c.690del (p.Glu231SerfsTer?) c.745del (p.Arg249GlufsTer?) c.291del (p.Glu98SerfsTer?) c.65del c.347del n.888del c.*73del (n.*73del) | dbSNP |
| 15 | g.89330247T>A | CA393767223 | POLG,POLGARF | c.689A>T (p.Glu230Val) c.744A>T (p.Gly248=) c.290A>T (p.Glu97Val) c.64A>T c.346A>T n.887A>T c.*72A>T (n.*72A>T) | |
| 15 | g.89330247T>C | CA7725059 | POLG,POLGARF | c.689A>G (p.Glu230Gly) c.744A>G (p.Gly248=) c.290A>G (p.Glu97Gly) c.64A>G c.346A>G n.887A>G c.*72A>G (n.*72A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330247T>G | CA393767221 | POLG,POLGARF | c.689A>C (p.Glu230Ala) c.744A>C (p.Gly248=) c.290A>C (p.Glu97Ala) c.64A>C c.346A>C n.887A>C c.*72A>C (n.*72A>C) | |
| 15 | g.89330247T= | CA2194565700 | POLG,POLGARF | c.689A= (p.Glu230=) c.744A= (p.Gly248=) c.290A= (p.Glu97=) c.64A= c.346A= n.887A= c.*72A= (n.*72A=) | |
| 15 | g.89330248C>A | CA393767226 | POLG,POLGARF | c.688G>T (p.Glu230Ter) c.743G>T (p.Gly248Val) c.289G>T (p.Glu97Ter) c.63G>T c.345G>T n.886G>T c.*71G>T (n.*71G>T) | |
| 15 | g.89330248C>G | CA393767228 | POLG,POLGARF | c.688G>C (p.Glu230Gln) c.743G>C (p.Gly248Ala) c.289G>C (p.Glu97Gln) c.63G>C c.345G>C n.886G>C c.*71G>C (n.*71G>C) | |
| 15 | g.89330248C>T | CA393767230 | POLG,POLGARF | c.688G>A (p.Glu230Lys) c.743G>A (p.Gly248Glu) c.289G>A (p.Glu97Lys) c.63G>A c.345G>A n.886G>A c.*71G>A (n.*71G>A) | |
| 15 | g.89330249C>A | CA492080677 | POLG,POLGARF | c.687G>T (p.Val229=) c.742G>T (p.Gly248Ter) c.288G>T (p.Val96=) c.62G>T c.344G>T n.885G>T c.*70G>T (n.*70G>T) | |
| 15 | g.89330249C= | CA2194565709 | POLG,POLGARF | c.687G= (p.Val229=) c.742G= (p.Gly248=) c.288G= (p.Val96=) c.62G= c.344G= n.885G= c.*70G= (n.*70G=) | |
| 15 | g.89330249C>G | CA492080678 | POLG,POLGARF | c.687G>C (p.Val229=) c.742G>C (p.Gly248Arg) c.288G>C (p.Val96=) c.62G>C c.344G>C n.885G>C c.*70G>C (n.*70G>C) | |
| 15 | g.89330249C>T | CA7725060 | POLG,POLGARF | c.687G>A (p.Val229=) c.742G>A (p.Gly248Arg) c.288G>A (p.Val96=) c.62G>A c.344G>A n.885G>A c.*70G>A (n.*70G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330250A= | CA2194565717 | POLG,POLGARF | c.686T= (p.Val229=) c.741T= (p.Gly247=) c.287T= (p.Val96=) c.61T= c.343T= n.884T= c.*69T= (n.*69T=) | |
| 15 | g.89330250A>C | CA7725061 | POLG,POLGARF | c.686T>G (p.Val229Gly) c.741T>G (p.Gly247=) c.287T>G (p.Val96Gly) c.61T>G c.343T>G n.884T>G c.*69T>G (n.*69T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330250A>G | CA393767232 | POLG,POLGARF | c.686T>C (p.Val229Ala) c.741T>C (p.Gly247=) c.287T>C (p.Val96Ala) c.61T>C c.343T>C n.884T>C c.*69T>C (n.*69T>C) | gnomAD v4 |
| 15 | g.89330250A>T | CA393767233 | POLG,POLGARF | c.686T>A (p.Val229Glu) c.741T>A (p.Gly247=) c.287T>A (p.Val96Glu) c.61T>A c.343T>A n.884T>A c.*69T>A (n.*69T>A) | |
| 15 | g.89330251C>A | CA393767234 | POLG,POLGARF | c.685G>T (p.Val229Leu) c.740G>T (p.Gly247Val) c.286G>T (p.Val96Leu) c.60G>T c.342G>T n.883G>T c.*68G>T (n.*68G>T) | |
| 15 | g.89330251C>G | CA393767236 | POLG,POLGARF | c.685G>C (p.Val229Leu) c.740G>C (p.Gly247Ala) c.286G>C (p.Val96Leu) c.60G>C c.342G>C n.883G>C c.*68G>C (n.*68G>C) | |
| 15 | g.89330251C>T | CA393767238 | POLG,POLGARF | c.685G>A (p.Val229Met) c.740G>A (p.Gly247Asp) c.286G>A (p.Val96Met) c.60G>A c.342G>A n.883G>A c.*68G>A (n.*68G>A) | gnomAD v4 |
| 15 | g.89330252C>A | CA492080680 | POLG,POLGARF | c.684G>T (p.Leu228=) c.739G>T (p.Gly247Cys) c.285G>T (p.Leu95=) c.59G>T c.341G>T n.882G>T c.*67G>T (n.*67G>T) | gnomAD v4 |
| 15 | g.89330252C>G | CA492080681 | POLG,POLGARF | c.684G>C (p.Leu228=) c.739G>C (p.Gly247Arg) c.285G>C (p.Leu95=) c.59G>C c.341G>C n.882G>C c.*67G>C (n.*67G>C) | |
| 15 | g.89330252C>T | CA492080682 | POLG,POLGARF | c.684G>A (p.Leu228=) c.739G>A (p.Gly247Ser) c.285G>A (p.Leu95=) c.59G>A c.341G>A n.882G>A c.*67G>A (n.*67G>A) | ClinVar dbSNP |
| 15 | g.89330253A>C | CA393767240 | POLG,POLGARF | c.683T>G (p.Leu228Arg) c.738T>G (p.Ala246=) c.284T>G (p.Leu95Arg) c.58T>G c.340T>G n.881T>G c.*66T>G (n.*66T>G) | |
| 15 | g.89330253A>G | CA393767242 | POLG,POLGARF | c.683T>C (p.Leu228Pro) c.738T>C (p.Ala246=) c.284T>C (p.Leu95Pro) c.58T>C c.340T>C n.881T>C c.*66T>C (n.*66T>C) | |
| 15 | g.89330253A>T | CA393767244 | POLG,POLGARF | c.683T>A (p.Leu228Gln) c.738T>A (p.Ala246=) c.284T>A (p.Leu95Gln) c.58T>A c.340T>A n.881T>A c.*66T>A (n.*66T>A) | |
| 15 | g.89330254G>A | CA492080683 | POLG,POLGARF | c.682C>T (p.Leu228=) c.737C>T (p.Ala246Val) c.283C>T (p.Leu95=) c.57C>T c.339C>T n.880C>T c.*65C>T (n.*65C>T) | |
| 15 | g.89330254G>C | CA393767250 | POLG,POLGARF | c.682C>G (p.Leu228Val) c.737C>G (p.Ala246Gly) c.283C>G (p.Leu95Val) c.57C>G c.339C>G n.880C>G c.*65C>G (n.*65C>G) | |
| 15 | g.89330254G>T | CA393767249 | POLG,POLGARF | c.682C>A (p.Leu228Met) c.737C>A (p.Ala246Asp) c.283C>A (p.Leu95Met) c.57C>A c.339C>A n.880C>A c.*65C>A (n.*65C>A) | |
| 15 | g.89330255C>A | CA492080684 | POLG,POLGARF | c.681G>T (p.Arg227=) c.736G>T (p.Ala246Ser) c.282G>T (p.Arg94=) c.56G>T c.338G>T n.879G>T c.*64G>T (n.*64G>T) | COSMIC |
| 15 | g.89330255C>G | CA492080685 | POLG,POLGARF | c.681G>C (p.Arg227=) c.736G>C (p.Ala246Pro) c.282G>C (p.Arg94=) c.56G>C c.338G>C n.879G>C c.*64G>C (n.*64G>C) | |
| 15 | g.89330255C>T | CA492080686 | POLG,POLGARF | c.681G>A (p.Arg227=) c.736G>A (p.Ala246Thr) c.282G>A (p.Arg94=) c.56G>A c.338G>A n.879G>A c.*64G>A (n.*64G>A) | gnomAD v4 |
| 15 | g.89330256C>A | CA393767252 | POLG,POLGARF | c.680G>T (p.Arg227Leu) c.735G>T (p.Ala245=) c.281G>T (p.Arg94Leu) c.55G>T c.337G>T n.878G>T c.*63G>T (n.*63G>T) | |
| 15 | g.89330256C= | CA2194565722 | POLG,POLGARF | c.680G= (p.Arg227=) c.735G= (p.Ala245=) c.281G= (p.Arg94=) c.55G= c.337G= n.878G= c.*63G= (n.*63G=) | |
| 15 | g.89330256C>G | CA393767254 | POLG,POLGARF | c.680G>C (p.Arg227Pro) c.735G>C (p.Ala245=) c.281G>C (p.Arg94Pro) c.55G>C c.337G>C n.878G>C c.*63G>C (n.*63G>C) | COSMIC |
| 15 | g.89330256C>T | CA393767255 | POLG,POLGARF | c.680G>A (p.Arg227Gln) c.735G>A (p.Ala245=) c.281G>A (p.Arg94Gln) c.55G>A c.337G>A n.878G>A c.*63G>A (n.*63G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330257G>A | CA123154 | POLG,POLGARF | c.679C>T (p.Arg227Trp) c.734C>T (p.Ala245Val) c.280C>T (p.Arg94Trp) c.54C>T c.336C>T n.877C>T c.*62C>T (n.*62C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330257G>C | CA393767259 | POLG,POLGARF | c.679C>G (p.Arg227Gly) c.734C>G (p.Ala245Gly) c.280C>G (p.Arg94Gly) c.54C>G c.336C>G n.877C>G c.*62C>G (n.*62C>G) | |
| 15 | g.89330257G= | CA2194565727 | POLG,POLGARF | c.679C= (p.Arg227=) c.734C= (p.Ala245=) c.280C= (p.Arg94=) c.54C= c.336C= n.877C= c.*62C= (n.*62C=) | |
| 15 | g.89330257G>T | CA492080687 | POLG,POLGARF | c.679C>A (p.Arg227=) c.734C>A (p.Ala245Glu) c.280C>A (p.Arg94=) c.54C>A c.336C>A n.877C>A c.*62C>A (n.*62C>A) | gnomAD v4 |
| 15 | g.89330258C>A | CA393767261 | POLG,POLGARF | c.678G>T (p.Gln226His) c.733G>T (p.Ala245Ser) c.279G>T (p.Gln93His) c.53G>T c.335G>T n.876G>T c.*61G>T (n.*61G>T) | |
| 15 | g.89330258C= | CA2194565733 | POLG,POLGARF | c.678G= (p.Gln226=) c.733G= (p.Ala245=) c.279G= (p.Gln93=) c.53G= c.335G= n.876G= c.*61G= (n.*61G=) | |
| 15 | g.89330258C>G | CA316806 | POLG,POLGARF | c.678G>C (p.Gln226His) c.733G>C (p.Ala245Pro) c.279G>C (p.Gln93His) c.53G>C c.335G>C n.876G>C c.*61G>C (n.*61G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330258C>T | CA492080688 | POLG,POLGARF | c.678G>A (p.Gln226=) c.733G>A (p.Ala245Thr) c.279G>A (p.Gln93=) c.53G>A c.335G>A n.876G>A c.*61G>A (n.*61G>A) |