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.89333491_89333511del | CA2630256940 | POLG,POLGARF | c.248_268del (p.Leu83_Gly89del) c.303_323del (p.Ala102_Ala108del) n.446_466del | gnomAD v4 |
| 15 | g.89333496T>A | CA393773227 | POLG,POLGARF | c.259A>T (p.Ile87Phe) c.314A>T (p.Asn105Ile) n.457A>T | |
| 15 | g.89333496T>C | CA393773228 | POLG,POLGARF | c.259A>G (p.Ile87Val) c.314A>G (p.Asn105Ser) n.457A>G | |
| 15 | g.89333496T>G | CA393773229 | POLG,POLGARF | c.259A>C (p.Ile87Leu) c.314A>C (p.Asn105Thr) n.457A>C | |
| 15 | g.89333497T>A | CA393773232 | POLG,POLGARF | c.258A>T (p.Gln86His) c.313A>T (p.Asn105Tyr) n.456A>T | |
| 15 | g.89333497T>C | CA492290264 | POLG,POLGARF | c.258A>G (p.Gln86=) c.313A>G (p.Asn105Asp) n.456A>G | gnomAD v4 |
| 15 | g.89333497T>G | CA7725148 | POLG,POLGARF | c.258A>C (p.Gln86His) c.313A>C (p.Asn105His) n.456A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333497T= | CA2194572741 | POLG,POLGARF | c.258A= (p.Gln86=) c.313A= (p.Asn105=) n.456A= | |
| 15 | g.89333498T>A | CA393773239 | POLG,POLGARF | c.257A>T (p.Gln86Leu) c.312A>T (p.Ala104=) n.455A>T | |
| 15 | g.89333498T>C | CA393773243 | POLG,POLGARF | c.257A>G (p.Gln86Arg) c.312A>G (p.Ala104=) n.455A>G | |
| 15 | g.89333498T>G | CA393773244 | POLG,POLGARF | c.257A>C (p.Gln86Pro) c.312A>C (p.Ala104=) n.455A>C | ClinVar |
| 15 | g.89333499G>A | CA393773248 | POLG,POLGARF | c.256C>T (p.Gln86Ter) c.311C>T (p.Ala104Val) n.454C>T | |
| 15 | g.89333499G>C | CA393773250 | POLG,POLGARF | c.256C>G (p.Gln86Glu) c.311C>G (p.Ala104Gly) n.454C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333499G>T | CA393773253 | POLG,POLGARF | c.256C>A (p.Gln86Lys) c.311C>A (p.Ala104Glu) n.454C>A | |
| 15 | g.89333500C>A | CA393773258 | POLG,POLGARF | c.255G>T (p.Glu85Asp) c.310G>T (p.Ala104Ser) n.453G>T | |
| 15 | g.89333500C= | CA2194572752 | POLG,POLGARF | c.255G= (p.Glu85=) c.310G= (p.Ala104=) n.453G= | |
| 15 | g.89333500C>G | CA393773256 | POLG,POLGARF | c.255G>C (p.Glu85Asp) c.310G>C (p.Ala104Pro) n.453G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333500C>T | CA492290270 | POLG,POLGARF | c.255G>A (p.Glu85=) c.310G>A (p.Ala104Thr) n.453G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333501T>A | CA393773259 | POLG,POLGARF | c.254A>T (p.Glu85Val) c.309A>T (p.Arg103=) n.452A>T | |
| 15 | g.89333501T>C | CA393773263 | POLG,POLGARF | c.254A>G (p.Glu85Gly) c.309A>G (p.Arg103=) n.452A>G | gnomAD v4 |
| 15 | g.89333501T>G | CA393773260 | POLG,POLGARF | c.254A>C (p.Glu85Ala) c.309A>C (p.Arg103=) n.452A>C | |
| 15 | g.89333502C>A | CA393773267 | POLG,POLGARF | c.253G>T (p.Glu85Ter) c.308G>T (p.Arg103Leu) n.451G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333502C= | CA2194572758 | POLG,POLGARF | c.253G= (p.Glu85=) c.308G= (p.Arg103=) n.451G= | |
| 15 | g.89333502C>G | CA393773274 | POLG,POLGARF | c.253G>C (p.Glu85Gln) c.308G>C (p.Arg103Pro) n.451G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333502C>T | CA393773269 | POLG,POLGARF | c.253G>A (p.Glu85Lys) c.308G>A (p.Arg103Gln) n.451G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.89333503G>A | CA492290275 | POLG,POLGARF | c.252C>T (p.His84=) c.307C>T (p.Arg103Ter) n.450C>T | dbSNP gnomAD v4 |
| 15 | g.89333503G>C | CA393773279 | POLG,POLGARF | c.252C>G (p.His84Gln) c.307C>G (p.Arg103Gly) n.450C>G | dbSNP gnomAD v4 |
| 15 | g.89333503G= | CA2194572763 | POLG,POLGARF | c.252C= (p.His84=) c.307C= (p.Arg103=) n.450C= | |
| 15 | g.89333503G>T | CA393773282 | POLG,POLGARF | c.252C>A (p.His84Gln) c.307C>A (p.Arg103=) n.450C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333504T>A | CA393773286 | POLG,POLGARF | c.251A>T (p.His84Leu) c.306A>T (p.Ala102=) n.449A>T | |
| 15 | g.89333504T>C | CA7725149 | POLG,POLGARF | c.251A>G (p.His84Arg) c.306A>G (p.Ala102=) n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333504T>G | CA393773291 | POLG,POLGARF | c.251A>C (p.His84Pro) c.306A>C (p.Ala102=) n.449A>C | |
| 15 | g.89333504T= | CA2194572769 | POLG,POLGARF | c.251A= (p.His84=) c.306A= (p.Ala102=) n.449A= | |
| 15 | g.89333505G>A | CA393773292 | POLG,POLGARF | c.250C>T (p.His84Tyr) c.305C>T (p.Ala102Val) n.448C>T | gnomAD v4 |
| 15 | g.89333505G>C | CA393773294 | POLG,POLGARF | c.250C>G (p.His84Asp) c.305C>G (p.Ala102Gly) n.448C>G | |
| 15 | g.89333505G>T | CA393773296 | POLG,POLGARF | c.250C>A (p.His84Asn) c.305C>A (p.Ala102Glu) n.448C>A | |
| 15 | g.89333506C>A | CA492290282 | POLG,POLGARF | c.249G>T (p.Leu83=) c.304G>T (p.Ala102Ser) n.447G>T | |
| 15 | g.89333506C= | CA2194572772 | POLG,POLGARF | c.249G= (p.Leu83=) c.304G= (p.Ala102=) n.447G= | |
| 15 | g.89333506C>G | CA274566234 | POLG,POLGARF | c.249G>C (p.Leu83=) c.304G>C (p.Ala102Pro) n.447G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333506C>T | CA492290284 | POLG,POLGARF | c.249G>A (p.Leu83=) c.304G>A (p.Ala102Thr) n.447G>A | gnomAD v4 COSMIC |
| 15 | g.89333507A= | CA2194572805 | POLG,POLGARF | c.248T= (p.Leu83=) c.303T= (p.Ala101=) n.446T= | |
| 15 | g.89333507A>C | CA393773298 | POLG,POLGARF | c.248T>G (p.Leu83Arg) c.303T>G (p.Ala101=) n.446T>G | |
| 15 | g.89333507A>G | CA10602229 | POLG,POLGARF | c.248T>C (p.Leu83Pro) c.303T>C (p.Ala101=) n.446T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333507A>T | CA393773299 | POLG,POLGARF | c.248T>A (p.Leu83Gln) c.303T>A (p.Ala101=) n.446T>A | |
| 15 | g.89333508G>A | CA492290286 | POLG,POLGARF | c.247C>T (p.Leu83=) c.302C>T (p.Ala101Val) n.445C>T | gnomAD v4 |
| 15 | g.89333508G>C | CA393773300 | POLG,POLGARF | c.247C>G (p.Leu83Val) c.302C>G (p.Ala101Gly) n.445C>G | |
| 15 | g.89333508G>T | CA393773302 | POLG,POLGARF | c.247C>A (p.Leu83Met) c.302C>A (p.Ala101Asp) n.445C>A | gnomAD v4 |
| 15 | g.89333509C>A | CA492290287 | POLG,POLGARF | c.246G>T (p.Gly82=) c.301G>T (p.Ala101Ser) n.444G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333509C= | CA2194572818 | POLG,POLGARF | c.246G= (p.Gly82=) c.301G= (p.Ala101=) n.444G= | |
| 15 | g.89333509C>G | CA492290288 | POLG,POLGARF | c.246G>C (p.Gly82=) c.301G>C (p.Ala101Pro) n.444G>C | |
| 15 | g.89333509C>T | CA492290291 | POLG,POLGARF | c.246G>A (p.Gly82=) c.301G>A (p.Ala101Thr) n.444G>A | dbSNP |
| 15 | g.89333510C>A | CA393773305 | POLG,POLGARF | c.245G>T (p.Gly82Val) c.300G>T (p.Arg100Ser) n.443G>T | |
| 15 | g.89333510C= | CA2194572824 | POLG,POLGARF | c.245G= (p.Gly82=) c.300G= (p.Arg100=) n.443G= | |
| 15 | g.89333510C>G | CA393773309 | POLG,POLGARF | c.245G>C (p.Gly82Ala) c.300G>C (p.Arg100Ser) n.443G>C | |
| 15 | g.89333510C>T | CA393773306 | POLG,POLGARF | c.245G>A (p.Gly82Glu) c.300G>A (p.Arg100=) n.443G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333511C>A | CA7725150 | POLG,POLGARF | c.244G>T (p.Gly82Trp) c.299G>T (p.Arg100Met) n.442G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333511C= | CA2194572832 | POLG,POLGARF | c.244G= (p.Gly82=) c.299G= (p.Arg100=) n.442G= | |
| 15 | g.89333511C>G | CA7725151 | POLG,POLGARF | c.244G>C (p.Gly82Arg) c.299G>C (p.Arg100Thr) n.442G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.89333511C>T | CA393773316 | POLG,POLGARF | c.244G>A (p.Gly82Arg) c.299G>A (p.Arg100Lys) n.442G>A | ClinVar dbSNP |
| 15 | g.89333512T>A | CA393773318 | POLG,POLGARF | c.243A>T (p.Arg81Ser) c.298A>T (p.Arg100Trp) n.441A>T | |
| 15 | g.89333512T>C | CA492290294 | POLG,POLGARF | c.243A>G (p.Arg81=) c.298A>G (p.Arg100Gly) n.441A>G | dbSNP |
| 15 | g.89333512T>G | CA393773319 | POLG,POLGARF | c.243A>C (p.Arg81Ser) c.298A>C (p.Arg100=) n.441A>C | |
| 15 | g.89333512T= | CA2194572839 | POLG,POLGARF | c.243A= (p.Arg81=) c.298A= (p.Arg100=) n.441A= | |
| 15 | g.89333513C>A | CA393773322 | POLG,POLGARF | c.242G>T (p.Arg81Ile) c.297G>T (p.Glu99Asp) n.440G>T | |
| 15 | g.89333513C= | CA2194572843 | POLG,POLGARF | c.242G= (p.Arg81=) c.297G= (p.Glu99=) n.440G= | |
| 15 | g.89333513C>G | CA393773323 | POLG,POLGARF | c.242G>C (p.Arg81Thr) c.297G>C (p.Glu99Asp) n.440G>C | dbSNP gnomAD v2 |
| 15 | g.89333513C>T | CA393773326 | POLG,POLGARF | c.242G>A (p.Arg81Lys) c.297G>A (p.Glu99=) n.440G>A | |
| 15 | g.89333514T>A | CA393773330 | POLG,POLGARF | c.241A>T (p.Arg81Ter) c.296A>T (p.Glu99Val) n.439A>T | dbSNP gnomAD v2 |
| 15 | g.89333514T>C | CA7725152 | POLG,POLGARF | c.241A>G (p.Arg81Gly) c.296A>G (p.Glu99Gly) n.439A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333514T>G | CA492290017 | POLG,POLGARF | c.241A>C (p.Arg81=) c.296A>C (p.Glu99Ala) n.439A>C | |
| 15 | g.89333514T= | CA2194572847 | POLG,POLGARF | c.241A= (p.Arg81=) c.296A= (p.Glu99=) n.439A= | |
| 15 | g.89333515C>A | CA492290020 | POLG,POLGARF | c.240G>T (p.Ser80=) c.295G>T (p.Glu99Ter) n.438G>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333515C>G | CA492290021 | POLG,POLGARF | c.240G>C (p.Ser80=) c.295G>C (p.Glu99Gln) n.438G>C | gnomAD v4 |
| 15 | g.89333515C>T | CA492290022 | POLG,POLGARF | c.240G>A (p.Ser80=) c.295G>A (p.Glu99Lys) n.438G>A | gnomAD v4 |
| 15 | g.89333516G>A | CA393773340 | POLG,POLGARF | c.239C>T (p.Ser80Leu) c.294C>T (p.Leu98=) n.437C>T | gnomAD v4 |
| 15 | g.89333516G>C | CA393773337 | POLG,POLGARF | c.239C>G (p.Ser80Trp) c.294C>G (p.Leu98=) n.437C>G | |
| 15 | g.89333516G>T | CA393773334 | POLG,POLGARF | c.239C>A (p.Ser80Ter) c.294C>A (p.Leu98=) n.437C>A | |
| 15 | g.89333517A>C | CA393773344 | POLG,POLGARF | c.238T>G (p.Ser80Ala) c.293T>G (p.Leu98Arg) n.436T>G | |
| 15 | g.89333517A>G | CA393773347 | POLG,POLGARF | c.238T>C (p.Ser80Pro) c.293T>C (p.Leu98Pro) n.436T>C | |
| 15 | g.89333517A>T | CA393773350 | POLG,POLGARF | c.238T>A (p.Ser80Thr) c.293T>A (p.Leu98His) n.436T>A | |
| 15 | g.89333518G>A | CA7725153 | POLG,POLGARF | c.237C>T (p.Leu79=) c.292C>T (p.Leu98Phe) n.435C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333518G>C | CA7725154 | POLG,POLGARF | c.237C>G (p.Leu79=) c.292C>G (p.Leu98Val) n.435C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333518G= | CA2194572856 | POLG,POLGARF | c.237C= (p.Leu79=) c.292C= (p.Leu98=) n.435C= | |
| 15 | g.89333518G>T | CA492290027 | POLG,POLGARF | c.237C>A (p.Leu79=) c.292C>A (p.Leu98Ile) n.435C>A | dbSNP |
| 15 | g.89333519A= | CA2194572865 | POLG,POLGARF | c.236T= (p.Leu79=) c.291T= (p.Ala97=) n.434T= | |
| 15 | g.89333519A>C | CA393773368 | POLG,POLGARF | c.236T>G (p.Leu79Arg) c.291T>G (p.Ala97=) n.434T>G | |
| 15 | g.89333519A>G | CA393773365 | POLG,POLGARF | c.236T>C (p.Leu79Pro) c.291T>C (p.Ala97=) n.434T>C | dbSNP |
| 15 | g.89333519A>T | CA393773362 | POLG,POLGARF | c.236T>A (p.Leu79His) c.291T>A (p.Ala97=) n.434T>A | |
| 15 | g.89333520G>A | CA393773371 | POLG,POLGARF | c.235C>T (p.Leu79Phe) c.290C>T (p.Ala97Val) n.433C>T | ClinVar |
| 15 | g.89333520G>C | CA393773374 | POLG,POLGARF | c.235C>G (p.Leu79Val) c.290C>G (p.Ala97Gly) n.433C>G | |
| 15 | g.89333520G= | CA2194572869 | POLG,POLGARF | c.235C= (p.Leu79=) c.290C= (p.Ala97=) n.433C= | |
| 15 | g.89333520G>T | CA393773378 | POLG,POLGARF | c.235C>A (p.Leu79Ile) c.290C>A (p.Ala97Asp) n.433C>A | |
| 15 | g.89333521C>A | CA393773381 | POLG,POLGARF | c.234G>T (p.Met78Ile) c.289G>T (p.Ala97Ser) n.432G>T | |
| 15 | g.89333521C>G | CA393773382 | POLG,POLGARF | c.234G>C (p.Met78Ile) c.289G>C (p.Ala97Pro) n.432G>C | |
| 15 | g.89333521C>T | CA393773383 | POLG,POLGARF | c.234G>A (p.Met78Ile) c.289G>A (p.Ala97Thr) n.432G>A | |
| 15 | g.89333521dup | CA2194572874 | POLG,POLGARF | c.234dup (p.Leu79AlafsTer?) c.289dup (p.Ala97GlyfsTer?) n.432dup | dbSNP |
| 15 | g.89333522A>C | CA393773384 | POLG,POLGARF | c.233T>G (p.Met78Arg) c.288T>G (p.Asp96Glu) n.431T>G | |
| 15 | g.89333522A>G | CA393773387 | POLG,POLGARF | c.233T>C (p.Met78Thr) c.288T>C (p.Asp96=) n.431T>C | |
| 15 | g.89333522A>T | CA393773385 | POLG,POLGARF | c.233T>A (p.Met78Lys) c.288T>A (p.Asp96Glu) n.431T>A | |
| 15 | g.89333523T>A | CA393773389 | POLG,POLGARF | c.232A>T (p.Met78Leu) c.287A>T (p.Asp96Val) n.430A>T | |
| 15 | g.89333523T>C | CA7725155 | POLG,POLGARF | c.232A>G (p.Met78Val) c.287A>G (p.Asp96Gly) n.430A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333523T>G | CA393773393 | POLG,POLGARF | c.232A>C (p.Met78Leu) c.287A>C (p.Asp96Ala) n.430A>C | |
| 15 | g.89333523T= | CA2194572876 | POLG,POLGARF | c.232A= (p.Met78=) c.287A= (p.Asp96=) n.430A= | |
| 15 | g.89333524C>A | CA7725156 | POLG,POLGARF | c.231G>T (p.Gln77His) c.286G>T (p.Asp96Tyr) n.429G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333524C= | CA2194572884 | POLG,POLGARF | c.231G= (p.Gln77=) c.286G= (p.Asp96=) n.429G= | |
| 15 | g.89333524C>G | CA7725157 | POLG,POLGARF | c.231G>C (p.Gln77His) c.286G>C (p.Asp96His) n.429G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333524C>T | CA492290035 | POLG,POLGARF | c.231G>A (p.Gln77=) c.286G>A (p.Asp96Asn) n.429G>A | dbSNP |
| 15 | g.89333525T>A | CA393773407 | POLG,POLGARF | c.230A>T (p.Gln77Leu) c.285A>T (p.Pro95=) n.428A>T | |
| 15 | g.89333525T>C | CA393773410 | POLG,POLGARF | c.230A>G (p.Gln77Arg) c.285A>G (p.Pro95=) n.428A>G | dbSNP |
| 15 | g.89333525T>G | CA393773412 | POLG,POLGARF | c.230A>C (p.Gln77Pro) c.285A>C (p.Pro95=) n.428A>C | |
| 15 | g.89333525T= | CA2194572892 | POLG,POLGARF | c.230A= (p.Gln77=) c.285A= (p.Pro95=) n.428A= | |
| 15 | g.89333526G>A | CA393773418 | POLG,POLGARF | c.229C>T (p.Gln77Ter) c.284C>T (p.Pro95Leu) n.427C>T | ClinVar gnomAD v4 |
| 15 | g.89333526G>C | CA393773421 | POLG,POLGARF | c.229C>G (p.Gln77Glu) c.284C>G (p.Pro95Arg) n.427C>G | |
| 15 | g.89333526G>T | CA393773424 | POLG,POLGARF | c.229C>A (p.Gln77Lys) c.284C>A (p.Pro95Gln) n.427C>A | |
| 15 | g.89333527del | CA2573151276 | POLG,POLGARF | c.229del (p.Gln77ArgfsTer?) c.284del (p.Pro95GlnfsTer?) n.427del | ClinVar dbSNP |
| 15 | g.89333527G>A | CA492290038 | POLG,POLGARF | c.228C>T (p.Ile76=) c.283C>T (p.Pro95Ser) n.426C>T | ClinVar |
| 15 | g.89333527G>C | CA7725158 | POLG,POLGARF | c.228C>G (p.Ile76Met) c.283C>G (p.Pro95Ala) n.426C>G | dbSNP ExAC |
| 15 | g.89333527G= | CA2194572900 | POLG,POLGARF | c.228C= (p.Ile76=) c.283C= (p.Pro95=) n.426C= | |
| 15 | g.89333527G>T | CA492290039 | POLG,POLGARF | c.228C>A (p.Ile76=) c.283C>A (p.Pro95Thr) n.426C>A | gnomAD v4 |
| 15 | g.89333528A>C | CA393773430 | POLG,POLGARF | c.227T>G (p.Ile76Ser) c.282T>G (p.His94Gln) n.425T>G | |
| 15 | g.89333528A>G | CA393773428 | POLG,POLGARF | c.227T>C (p.Ile76Thr) c.282T>C (p.His94=) n.425T>C | |
| 15 | g.89333528A>T | CA393773429 | POLG,POLGARF | c.227T>A (p.Ile76Asn) c.282T>A (p.His94Gln) n.425T>A | gnomAD v4 |
| 15 | g.89333529T>A | CA393773432 | POLG,POLGARF | c.226A>T (p.Ile76Phe) c.281A>T (p.His94Leu) n.424A>T | |
| 15 | g.89333529T>C | CA393773440 | POLG,POLGARF | c.226A>G (p.Ile76Val) c.281A>G (p.His94Arg) n.424A>G | dbSNP gnomAD v4 |
| 15 | g.89333529T>G | CA393773441 | POLG,POLGARF | c.226A>C (p.Ile76Leu) c.281A>C (p.His94Pro) n.424A>C | |
| 15 | g.89333529T= | CA2194572905 | POLG,POLGARF | c.226A= (p.Ile76=) c.281A= (p.His94=) n.424A= | |
| 15 | g.89333530G>A | CA7725159 | POLG,POLGARF | c.225C>T (p.Asp75=) c.280C>T (p.His94Tyr) n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333530G>C | CA393773443 | POLG,POLGARF | c.225C>G (p.Asp75Glu) c.280C>G (p.His94Asp) n.423C>G | |
| 15 | g.89333530G= | CA2194572907 | POLG,POLGARF | c.225C= (p.Asp75=) c.280C= (p.His94=) n.423C= | |
| 15 | g.89333530G>T | CA393773442 | POLG,POLGARF | c.225C>A (p.Asp75Glu) c.280C>A (p.His94Asn) n.423C>A | |
| 15 | g.89333531T>A | CA393773447 | POLG,POLGARF | c.224A>T (p.Asp75Val) c.279A>T (p.Gly93=) n.422A>T | |
| 15 | g.89333531T>C | CA393773450 | POLG,POLGARF | c.224A>G (p.Asp75Gly) c.279A>G (p.Gly93=) n.422A>G | |
| 15 | g.89333531T>G | CA393773453 | POLG,POLGARF | c.224A>C (p.Asp75Ala) c.279A>C (p.Gly93=) n.422A>C | |
| 15 | g.89333532C>A | CA393773458 | POLG,POLGARF | c.223G>T (p.Asp75Tyr) c.278G>T (p.Gly93Val) n.421G>T | |
| 15 | g.89333532C>G | CA393773460 | POLG,POLGARF | c.223G>C (p.Asp75His) c.278G>C (p.Gly93Ala) n.421G>C | |
| 15 | g.89333532C>T | CA393773462 | POLG,POLGARF | c.223G>A (p.Asp75Asn) c.278G>A (p.Gly93Glu) n.421G>A | |
| 15 | g.89333533C>A | CA393773470 | POLG,POLGARF | c.222G>T (p.Leu74Phe) c.277G>T (p.Gly93Ter) n.420G>T | COSMIC |
| 15 | g.89333533C= | CA2194572910 | POLG,POLGARF | c.222G= (p.Leu74=) c.277G= (p.Gly93=) n.420G= | |
| 15 | g.89333533C>G | CA393773464 | POLG,POLGARF | c.222G>C (p.Leu74Phe) c.277G>C (p.Gly93Arg) n.420G>C | |
| 15 | g.89333533C>T | CA7725160 | POLG,POLGARF | c.222G>A (p.Leu74=) c.277G>A (p.Gly93Arg) n.420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.89333534A>C | CA393773474 | POLG,POLGARF | c.221T>G (p.Leu74Trp) c.276T>G (p.Ile92Met) n.419T>G | gnomAD v4 |
| 15 | g.89333534A>G | CA393773476 | POLG,POLGARF | c.221T>C (p.Leu74Ser) c.276T>C (p.Ile92=) n.419T>C | |
| 15 | g.89333534A>T | CA393773477 | POLG,POLGARF | c.221T>A (p.Leu74Ter) c.276T>A (p.Ile92=) n.419T>A | |
| 15 | g.89333535_89333565del | CA2630256941 | POLG,POLGARF | c.191_221del (p.Ser64TrpfsTer?) c.246_276del (p.Gly83AspfsTer?) n.389_419del | gnomAD v4 |
| 15 | g.89333535A= | CA2194572913 | POLG,POLGARF | c.220T= (p.Leu74=) c.275T= (p.Ile92=) n.418T= | |
| 15 | g.89333535A>C | CA393773478 | POLG,POLGARF | c.220T>G (p.Leu74Val) c.275T>G (p.Ile92Ser) n.418T>G | |
| 15 | g.89333535A>G | CA492290043 | POLG,POLGARF | c.220T>C (p.Leu74=) c.275T>C (p.Ile92Thr) n.418T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333535A>T | CA393773479 | POLG,POLGARF | c.220T>A (p.Leu74Met) c.275T>A (p.Ile92Asn) n.418T>A | gnomAD v4 |
| 15 | g.89333536T>A | CA492290044 | POLG,POLGARF | c.219A>T (p.Pro73=) c.274A>T (p.Ile92Phe) n.417A>T | ClinVar |
| 15 | g.89333536T>C | CA492290045 | POLG,POLGARF | c.219A>G (p.Pro73=) c.274A>G (p.Ile92Val) n.417A>G | ClinVar gnomAD v4 |
| 15 | g.89333536T>G | CA492290046 | POLG,POLGARF | c.219A>C (p.Pro73=) c.274A>C (p.Ile92Leu) n.417A>C | |
| 15 | g.89333537G>A | CA274566286 | POLG,POLGARF | c.218C>T (p.Pro73Leu) c.273C>T (p.Pro91=) n.416C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333537G>C | CA393773483 | POLG,POLGARF | c.218C>G (p.Pro73Arg) c.273C>G (p.Pro91=) n.416C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333537G= | CA2194572918 | POLG,POLGARF | c.218C= (p.Pro73=) c.273C= (p.Pro91=) n.416C= | |
| 15 | g.89333537G>T | CA393773485 | POLG,POLGARF | c.218C>A (p.Pro73Gln) c.273C>A (p.Pro91=) n.416C>A | |
| 15 | g.89333538G>A | CA393773491 | POLG,POLGARF | c.217C>T (p.Pro73Ser) c.272C>T (p.Pro91Leu) n.415C>T | gnomAD v4 |
| 15 | g.89333538G>C | CA393773493 | POLG,POLGARF | c.217C>G (p.Pro73Ala) c.272C>G (p.Pro91Arg) n.415C>G | dbSNP gnomAD v4 |
| 15 | g.89333538G= | CA2194572921 | POLG,POLGARF | c.217C= (p.Pro73=) c.272C= (p.Pro91=) n.415C= | |
| 15 | g.89333538G>T | CA393773496 | POLG,POLGARF | c.217C>A (p.Pro73Thr) c.272C>A (p.Pro91His) n.415C>A | dbSNP gnomAD v2 |
| 15 | g.89333539G>A | CA492290050 | POLG,POLGARF | c.216C>T (p.Asn72=) c.271C>T (p.Pro91Ser) n.414C>T | ClinVar |
| 15 | g.89333539G>C | CA393773501 | POLG,POLGARF | c.216C>G (p.Asn72Lys) c.271C>G (p.Pro91Ala) n.414C>G | |
| 15 | g.89333539G>T | CA393773517 | POLG,POLGARF | c.216C>A (p.Asn72Lys) c.271C>A (p.Pro91Thr) n.414C>A | |
| 15 | g.89333540T>A | CA393773523 | POLG,POLGARF | c.215A>T (p.Asn72Ile) c.270A>T (p.Gln90His) n.413A>T | |
| 15 | g.89333540T>C | CA316778 | POLG,POLGARF | c.215A>G (p.Asn72Ser) c.270A>G (p.Gln90=) n.413A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333540T>G | CA393773524 | POLG,POLGARF | c.215A>C (p.Asn72Thr) c.270A>C (p.Gln90His) n.413A>C | |
| 15 | g.89333540T= | CA2194572926 | POLG,POLGARF | c.215A= (p.Asn72=) c.270A= (p.Gln90=) n.413A= | |
| 15 | g.89333541T>A | CA7725161 | POLG,POLGARF | c.214A>T (p.Asn72Tyr) c.269A>T (p.Gln90Leu) n.412A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333541T>C | CA393773542 | POLG,POLGARF | c.214A>G (p.Asn72Asp) c.269A>G (p.Gln90Arg) n.412A>G | |
| 15 | g.89333541T>G | CA393773551 | POLG,POLGARF | c.214A>C (p.Asn72His) c.269A>C (p.Gln90Pro) n.412A>C | |
| 15 | g.89333541T= | CA2194572942 | POLG,POLGARF | c.214A= (p.Asn72=) c.269A= (p.Gln90=) n.412A= | |
| 15 | g.89333542G>A | CA492290052 | POLG,POLGARF | c.213C>T (p.His71=) c.268C>T (p.Gln90Ter) n.411C>T | |
| 15 | g.89333542G>C | CA393773554 | POLG,POLGARF | c.213C>G (p.His71Gln) c.268C>G (p.Gln90Glu) n.411C>G | |
| 15 | g.89333542G>T | CA393773561 | POLG,POLGARF | c.213C>A (p.His71Gln) c.268C>A (p.Gln90Lys) n.411C>A | |
| 15 | g.89333543T>A | CA393773567 | POLG,POLGARF | c.212A>T (p.His71Leu) c.267A>T (p.Ala89=) n.410A>T | |
| 15 | g.89333543T>C | CA393773574 | POLG,POLGARF | c.212A>G (p.His71Arg) c.267A>G (p.Ala89=) n.410A>G | ClinVar gnomAD v4 |
| 15 | g.89333543T>G | CA393773578 | POLG,POLGARF | c.212A>C (p.His71Pro) c.267A>C (p.Ala89=) n.410A>C | |
| 15 | g.89333544G>A | CA393773586 | POLG,POLGARF | c.211C>T (p.His71Tyr) c.266C>T (p.Ala89Val) n.409C>T | ClinVar dbSNP |
| 15 | g.89333544G>C | CA393773597 | POLG,POLGARF | c.211C>G (p.His71Asp) c.266C>G (p.Ala89Gly) n.409C>G | |
| 15 | g.89333544G= | CA2194572949 | POLG,POLGARF | c.211C= (p.His71=) c.266C= (p.Ala89=) n.409C= | |
| 15 | g.89333544G>T | CA393773598 | POLG,POLGARF | c.211C>A (p.His71Asn) c.266C>A (p.Ala89Glu) n.409C>A | gnomAD v4 |
| 15 | g.89333545C>A | CA7725162 | POLG,POLGARF | c.210G>T (p.Arg70=) c.265G>T (p.Ala89Ser) n.408G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333545C= | CA2194572955 | POLG,POLGARF | c.210G= (p.Arg70=) c.265G= (p.Ala89=) n.408G= | |
| 15 | g.89333545C>G | CA274566326 | POLG,POLGARF | c.210G>C (p.Arg70=) c.265G>C (p.Ala89Pro) n.408G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333545C>T | CA492290057 | POLG,POLGARF | c.210G>A (p.Arg70=) c.265G>A (p.Ala89Thr) n.408G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333546C>A | CA393773625 | POLG,POLGARF | c.209G>T (p.Arg70Leu) c.264G>T (p.Ala88=) n.407G>T | gnomAD v4 |
| 15 | g.89333546C= | CA2194572958 | POLG,POLGARF | c.209G= (p.Arg70=) c.264G= (p.Ala88=) n.407G= | |
| 15 | g.89333546C>G | CA393773617 | POLG,POLGARF | c.209G>C (p.Arg70Pro) c.264G>C (p.Ala88=) n.407G>C | |
| 15 | g.89333546C>T | CA274566338 | POLG,POLGARF | c.209G>A (p.Arg70Gln) c.264G>A (p.Ala88=) n.407G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333547G>A | CA393773631 | POLG,POLGARF | c.208C>T (p.Arg70Trp) c.263C>T (p.Ala88Val) n.406C>T | COSMIC |
| 15 | g.89333547G>C | CA393773634 | POLG,POLGARF | c.208C>G (p.Arg70Gly) c.263C>G (p.Ala88Gly) n.406C>G | |
| 15 | g.89333547G>T | CA492290059 | POLG,POLGARF | c.208C>A (p.Arg70=) c.263C>A (p.Ala88Glu) n.406C>A | |
| 15 | g.89333548C>A | CA492290065 | POLG,POLGARF | c.207G>T (p.Leu69=) c.262G>T (p.Ala88Ser) n.405G>T | |
| 15 | g.89333548C>G | CA492290063 | POLG,POLGARF | c.207G>C (p.Leu69=) c.262G>C (p.Ala88Pro) n.405G>C | |
| 15 | g.89333548C>T | CA492290061 | POLG,POLGARF | c.207G>A (p.Leu69=) c.262G>A (p.Ala88Thr) n.405G>A | |
| 15 | g.89333549A>C | CA393773635 | POLG,POLGARF | c.206T>G (p.Leu69Arg) c.261T>G (p.Ala87=) n.404T>G | |
| 15 | g.89333549A>G | CA393773636 | POLG,POLGARF | c.206T>C (p.Leu69Pro) c.261T>C (p.Ala87=) n.404T>C | dbSNP |
| 15 | g.89333549A>T | CA393773637 | POLG,POLGARF | c.206T>A (p.Leu69Gln) c.261T>A (p.Ala87=) n.404T>A | |
| 15 | g.89333550G>A | CA492290067 | POLG,POLGARF | c.205C>T (p.Leu69=) c.260C>T (p.Ala87Val) n.403C>T | gnomAD v4 |
| 15 | g.89333550G>C | CA393773640 | POLG,POLGARF | c.205C>G (p.Leu69Val) c.260C>G (p.Ala87Gly) n.403C>G | |
| 15 | g.89333550G>T | CA393773643 | POLG,POLGARF | c.205C>A (p.Leu69Met) c.260C>A (p.Ala87Asp) n.403C>A | |
| 15 | g.89333551C>A | CA393773644 | POLG,POLGARF | c.204G>T (p.Gln68His) c.259G>T (p.Ala87Ser) n.402G>T | |
| 15 | g.89333551C>G | CA393773647 | POLG,POLGARF | c.204G>C (p.Gln68His) c.259G>C (p.Ala87Pro) n.402G>C | ClinVar gnomAD v4 |
| 15 | g.89333551C>T | CA492290069 | POLG,POLGARF | c.204G>A (p.Gln68=) c.259G>A (p.Ala87Thr) n.402G>A | |
| 15 | g.89333552T>A | CA393773649 | POLG,POLGARF | c.203A>T (p.Gln68Leu) c.258A>T (p.Ala86=) n.401A>T | ClinVar dbSNP |
| 15 | g.89333552T>C | CA393773654 | POLG,POLGARF | c.203A>G (p.Gln68Arg) c.258A>G (p.Ala86=) n.401A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333552T>G | CA393773656 | POLG,POLGARF | c.203A>C (p.Gln68Pro) c.258A>C (p.Ala86=) n.401A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333552T= | CA2194572965 | POLG,POLGARF | c.203A= (p.Gln68=) c.258A= (p.Ala86=) n.401A= | |
| 15 | g.89333553G>A | CA10602212 | POLG,POLGARF | c.202C>T (p.Gln68Ter) c.257C>T (p.Ala86Val) n.400C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333553G>C | CA393773667 | POLG,POLGARF | c.202C>G (p.Gln68Glu) c.257C>G (p.Ala86Gly) n.400C>G | |
| 15 | g.89333553G= | CA2194572970 | POLG,POLGARF | c.202C= (p.Gln68=) c.257C= (p.Ala86=) n.400C= | |
| 15 | g.89333553G>T | CA393773665 | POLG,POLGARF | c.202C>A (p.Gln68Lys) c.257C>A (p.Ala86Glu) n.400C>A | gnomAD v4 |
| 15 | g.89333554C>A | CA492290073 | POLG,POLGARF | c.201G>T (p.Gly67=) c.256G>T (p.Ala86Ser) n.399G>T | |
| 15 | g.89333554C>G | CA492290074 | POLG,POLGARF | c.201G>C (p.Gly67=) c.256G>C (p.Ala86Pro) n.399G>C | |
| 15 | g.89333554C>T | CA492290075 | POLG,POLGARF | c.201G>A (p.Gly67=) c.256G>A (p.Ala86Thr) n.399G>A | gnomAD v4 |
| 15 | g.89333555C>A | CA393773670 | POLG,POLGARF | c.200G>T (p.Gly67Val) c.255G>T (p.Arg85=) n.398G>T | |
| 15 | g.89333555C= | CA2194572972 | POLG,POLGARF | c.200G= (p.Gly67=) c.255G= (p.Arg85=) n.398G= | |
| 15 | g.89333555C>G | CA393773680 | POLG,POLGARF | c.200G>C (p.Gly67Ala) c.255G>C (p.Arg85=) n.398G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333555C>T | CA393773677 | POLG,POLGARF | c.200G>A (p.Gly67Glu) c.255G>A (p.Arg85=) n.398G>A | gnomAD v4 |
| 15 | g.89333556C>A | CA393773684 | POLG,POLGARF | c.199G>T (p.Gly67Trp) c.254G>T (p.Arg85Leu) n.397G>T | dbSNP gnomAD v2 |
| 15 | g.89333556C= | CA2194572979 | POLG,POLGARF | c.199G= (p.Gly67=) c.254G= (p.Arg85=) n.397G= | |
| 15 | g.89333556C>G | CA393773686 | POLG,POLGARF | c.199G>C (p.Gly67Arg) c.254G>C (p.Arg85Pro) n.397G>C | ClinVar |
| 15 | g.89333556C>T | CA393773685 | POLG,POLGARF | c.199G>A (p.Gly67Arg) c.254G>A (p.Arg85Gln) n.397G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333557G>A | CA492290077 | POLG,POLGARF | c.198C>T (p.Gly66=) c.253C>T (p.Arg85Trp) n.396C>T | dbSNP gnomAD v4 COSMIC |
| 15 | g.89333557G>C | CA492290078 | POLG,POLGARF | c.198C>G (p.Gly66=) c.253C>G (p.Arg85Gly) n.396C>G | |
| 15 | g.89333557G= | CA2194572985 | POLG,POLGARF | c.198C= (p.Gly66=) c.253C= (p.Arg85=) n.396C= | |
| 15 | g.89333557G>T | CA492290079 | POLG,POLGARF | c.198C>A (p.Gly66=) c.253C>A (p.Arg85=) n.396C>A | gnomAD v4 |
| 15 | g.89333557_89333558delinsGC | CA2194572982 | POLG,POLGARF | c.197_198delinsGC (p.Gly66=) c.252_253delinsGC (p.Gly84=) n.395_396delinsGC | |
| 15 | g.89333558C>A | CA393773691 | POLG,POLGARF | c.197G>T (p.Gly66Val) c.252G>T (p.Gly84=) n.395G>T | |
| 15 | g.89333558C>G | CA393773705 | POLG,POLGARF | c.197G>C (p.Gly66Ala) c.252G>C (p.Gly84=) n.395G>C | |
| 15 | g.89333558C>T | CA393773708 | POLG,POLGARF | c.197G>A (p.Gly66Asp) c.252G>A (p.Gly84=) n.395G>A | |
| 15 | g.89333560del | CA619857515 | POLG,POLGARF | c.197del (p.Gly66AlafsTer?) c.252del (p.Arg85GlyfsTer?) n.395del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333559C>A | CA393773718 | POLG,POLGARF | c.196G>T (p.Gly66Cys) c.251G>T (p.Gly84Val) n.394G>T | |
| 15 | g.89333559C>G | CA393773721 | POLG,POLGARF | c.196G>C (p.Gly66Arg) c.251G>C (p.Gly84Ala) n.394G>C | |
| 15 | g.89333559C>T | CA393773723 | POLG,POLGARF | c.196G>A (p.Gly66Ser) c.251G>A (p.Gly84Glu) n.394G>A | |
| 15 | g.89333560C>A | CA393773730 | POLG,POLGARF | c.195G>T (p.Glu65Asp) c.250G>T (p.Gly84Trp) n.393G>T | |
| 15 | g.89333560C>G | CA393773734 | POLG,POLGARF | c.195G>C (p.Glu65Asp) c.250G>C (p.Gly84Arg) n.393G>C | |
| 15 | g.89333560C>T | CA492290084 | POLG,POLGARF | c.195G>A (p.Glu65=) c.250G>A (p.Gly84Arg) n.393G>A | |
| 15 | g.89333561T>A | CA393773738 | POLG,POLGARF | c.194A>T (p.Glu65Val) c.249A>T (p.Gly83=) n.392A>T | |
| 15 | g.89333561T>C | CA393773740 | POLG,POLGARF | c.194A>G (p.Glu65Gly) c.249A>G (p.Gly83=) n.392A>G | |
| 15 | g.89333561T>G | CA393773742 | POLG,POLGARF | c.194A>C (p.Glu65Ala) c.249A>C (p.Gly83=) n.392A>C | |
| 15 | g.89333562C>A | CA393773751 | POLG,POLGARF | c.193G>T (p.Glu65Ter) c.248G>T (p.Gly83Val) n.391G>T | |
| 15 | g.89333562C= | CA2194572989 | POLG,POLGARF | c.193G= (p.Glu65=) c.248G= (p.Gly83=) n.391G= | |
| 15 | g.89333562C>G | CA393773745 | POLG,POLGARF | c.193G>C (p.Glu65Gln) c.248G>C (p.Gly83Ala) n.391G>C | |
| 15 | g.89333562C>T | CA393773746 | POLG,POLGARF | c.193G>A (p.Glu65Lys) c.248G>A (p.Gly83Glu) n.391G>A | dbSNP |
| 15 | g.89333562_89333563insA | CA2805168373 | POLG,POLGARF | c.192_193insT (p.Glu65Ter) c.247_248insT (p.Gly83ValfsTer?) n.390_391insT | |
| 15 | g.89333563C>A | CA492290089 | POLG,POLGARF | c.192G>T (p.Ser64=) c.247G>T (p.Gly83Ter) n.390G>T | ClinVar |
| 15 | g.89333563C= | CA2194573016 | POLG,POLGARF | c.192G= (p.Ser64=) c.247G= (p.Gly83=) n.390G= | |
| 15 | g.89333563C>G | CA492290090 | POLG,POLGARF | c.192G>C (p.Ser64=) c.247G>C (p.Gly83Arg) n.390G>C | |
| 15 | g.89333563C>T | CA7725163 | POLG,POLGARF | c.192G>A (p.Ser64=) c.247G>A (p.Gly83Arg) n.390G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333564G>A | CA393773758 | POLG,POLGARF | c.191C>T (p.Ser64Leu) c.246C>T (p.Leu82=) n.389C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333564G>C | CA10602210 | POLG,POLGARF | c.191C>G (p.Ser64Trp) c.246C>G (p.Leu82=) n.389C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333564G= | CA2194573018 | POLG,POLGARF | c.191C= (p.Ser64=) c.246C= (p.Leu82=) n.389C= | |
| 15 | g.89333564G>T | CA393773759 | POLG,POLGARF | c.191C>A (p.Ser64Ter) c.246C>A (p.Leu82=) n.389C>A | gnomAD v4 |
| 15 | g.89333566_89333568del | CA2573151277 | POLG,POLGARF | c.189_191del (p.Ser64del) c.244_246del (p.Leu82del) n.387_389del | ClinVar dbSNP |
| 15 | g.89333565A>C | CA393773761 | POLG,POLGARF | c.190T>G (p.Ser64Ala) c.245T>G (p.Leu82Arg) n.388T>G | |
| 15 | g.89333565A>G | CA393773766 | POLG,POLGARF | c.190T>C (p.Ser64Pro) c.245T>C (p.Leu82Pro) n.388T>C | |
| 15 | g.89333565A>T | CA393773773 | POLG,POLGARF | c.190T>A (p.Ser64Thr) c.245T>A (p.Leu82His) n.388T>A | |
| 15 | g.89333566G>A | CA492290094 | POLG,POLGARF | c.189C>T (p.Ser63=) c.244C>T (p.Leu82Phe) n.387C>T | ClinVar |
| 15 | g.89333566G>C | CA492290095 | POLG,POLGARF | c.189C>G (p.Ser63=) c.244C>G (p.Leu82Val) n.387C>G | |
| 15 | g.89333566G>T | CA492290096 | POLG,POLGARF | c.189C>A (p.Ser63=) c.244C>A (p.Leu82Ile) n.387C>A | |
| 15 | g.89333567G>A | CA274566350 | POLG,POLGARF | c.188C>T (p.Ser63Phe) c.243C>T (p.Ile81=) n.386C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333567G>C | CA393773780 | POLG,POLGARF | c.188C>G (p.Ser63Cys) c.243C>G (p.Ile81Met) n.386C>G | ClinVar dbSNP |
| 15 | g.89333567G= | CA2194573024 | POLG,POLGARF | c.188C= (p.Ser63=) c.243C= (p.Ile81=) n.386C= | |
| 15 | g.89333567G>T | CA393773791 | POLG,POLGARF | c.188C>A (p.Ser63Tyr) c.243C>A (p.Ile81=) n.386C>A | dbSNP gnomAD v2 |
| 15 | g.89333568A= | CA2194573030 | POLG,POLGARF | c.187T= (p.Ser63=) c.242T= (p.Ile81=) n.385T= | |
| 15 | g.89333568A>C | CA393773801 | POLG,POLGARF | c.187T>G (p.Ser63Ala) c.242T>G (p.Ile81Ser) n.385T>G | |
| 15 | g.89333568A>G | CA7725164 | POLG,POLGARF | c.187T>C (p.Ser63Pro) c.242T>C (p.Ile81Thr) n.385T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333568A>T | CA393773800 | POLG,POLGARF | c.187T>A (p.Ser63Thr) c.242T>A (p.Ile81Asn) n.385T>A | |
| 15 | g.89333569T>A | CA492290101 | POLG,POLGARF | c.186A>T (p.Leu62=) c.241A>T (p.Ile81Phe) n.384A>T | |
| 15 | g.89333569T>C | CA7725165 | POLG,POLGARF | c.186A>G (p.Leu62=) c.241A>G (p.Ile81Val) n.384A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333569T>G | CA492290104 | POLG,POLGARF | c.186A>C (p.Leu62=) c.241A>C (p.Ile81Leu) n.384A>C | |
| 15 | g.89333569T= | CA2194573048 | POLG,POLGARF | c.186A= (p.Leu62=) c.241A= (p.Ile81=) n.384A= | |
| 15 | g.89333570A>C | CA393773807 | POLG,POLGARF | c.185T>G (p.Leu62Arg) c.240T>G (p.Ala80=) n.383T>G | |
| 15 | g.89333570A>G | CA393773811 | POLG,POLGARF | c.185T>C (p.Leu62Pro) c.240T>C (p.Ala80=) n.383T>C | |
| 15 | g.89333570A>T | CA393773814 | POLG,POLGARF | c.185T>A (p.Leu62Gln) c.240T>A (p.Ala80=) n.383T>A | |
| 15 | g.89333571G>A | CA7725166 | POLG,POLGARF | c.184C>T (p.Leu62=) c.239C>T (p.Ala80Val) n.382C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333571G>C | CA393773817 | POLG,POLGARF | c.184C>G (p.Leu62Val) c.239C>G (p.Ala80Gly) n.382C>G | |
| 15 | g.89333571G= | CA2194573050 | POLG,POLGARF | c.184C= (p.Leu62=) c.239C= (p.Ala80=) n.382C= | |
| 15 | g.89333571G>T | CA393773818 | POLG,POLGARF | c.184C>A (p.Leu62Ile) c.239C>A (p.Ala80Asp) n.382C>A | gnomAD v4 |
| 15 | g.89333572C>A | CA492290107 | POLG,POLGARF | c.183G>T (p.Val61=) c.238G>T (p.Ala80Ser) n.381G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333572C= | CA2194573055 | POLG,POLGARF | c.183G= (p.Val61=) c.238G= (p.Ala80=) n.381G= | |
| 15 | g.89333572C>G | CA492290108 | POLG,POLGARF | c.183G>C (p.Val61=) c.238G>C (p.Ala80Pro) n.381G>C | gnomAD v4 |
| 15 | g.89333572C>T | CA492290109 | POLG,POLGARF | c.183G>A (p.Val61=) c.238G>A (p.Ala80Thr) n.381G>A | gnomAD v4 |
| 15 | g.89333573A>C | CA393773822 | POLG,POLGARF | c.182T>G (p.Val61Gly) c.237T>G (p.Ser79Arg) n.380T>G | |
| 15 | g.89333573A>G | CA393773823 | POLG,POLGARF | c.182T>C (p.Val61Ala) c.237T>C (p.Ser79=) n.380T>C | |
| 15 | g.89333573A>T | CA393773825 | POLG,POLGARF | c.182T>A (p.Val61Glu) c.237T>A (p.Ser79Arg) n.380T>A | |
| 15 | g.89333574C>A | CA393773828 | POLG,POLGARF | c.181G>T (p.Val61Leu) c.236G>T (p.Ser79Ile) n.379G>T | |
| 15 | g.89333574C>G | CA393773831 | POLG,POLGARF | c.181G>C (p.Val61Leu) c.236G>C (p.Ser79Thr) n.379G>C | |
| 15 | g.89333574C>T | CA393773835 | POLG,POLGARF | c.181G>A (p.Val61Met) c.236G>A (p.Ser79Asn) n.379G>A | |
| 15 | g.89333575T>A | CA393773838 | POLG,POLGARF | c.180A>T (p.Gln60His) c.235A>T (p.Ser79Cys) n.378A>T | |
| 15 | g.89333575T>C | CA492290117 | POLG,POLGARF | c.180A>G (p.Gln60=) c.235A>G (p.Ser79Gly) n.378A>G | ClinVar dbSNP |
| 15 | g.89333575T>G | CA393773841 | POLG,POLGARF | c.180A>C (p.Gln60His) c.235A>C (p.Ser79Arg) n.378A>C | gnomAD v4 |
| 15 | g.89333575T= | CA2194573062 | POLG,POLGARF | c.180A= (p.Gln60=) c.235A= (p.Ser79=) n.378A= | |
| 15 | g.89333576T>A | CA393773851 | POLG,POLGARF | c.179A>T (p.Gln60Leu) c.234A>T (p.Ala78=) n.377A>T | |
| 15 | g.89333576T>C | CA393773856 | POLG,POLGARF | c.179A>G (p.Gln60Arg) c.234A>G (p.Ala78=) n.377A>G | gnomAD v4 |
| 15 | g.89333576T>G | CA393773858 | POLG,POLGARF | c.179A>C (p.Gln60Pro) c.234A>C (p.Ala78=) n.377A>C | ClinVar |
| 15 | g.89333578_89333586del | CA2630256942 | POLG,POLGARF | c.171_179del (p.Gln58_Gln60del) c.226_234del (p.Ala76_Ala78del) n.369_377del | gnomAD v4 |
| 15 | g.89333577G>A | CA393773862 | POLG,POLGARF | c.178C>T (p.Gln60Ter) c.233C>T (p.Ala78Val) n.376C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333577G>C | CA393773866 | POLG,POLGARF | c.178C>G (p.Gln60Glu) c.233C>G (p.Ala78Gly) n.376C>G | |
| 15 | g.89333577G= | CA2194573069 | POLG,POLGARF | c.178C= (p.Gln60=) c.233C= (p.Ala78=) n.376C= | |
| 15 | g.89333577G>T | CA7725167 | POLG,POLGARF | c.178C>A (p.Gln60Lys) c.233C>A (p.Ala78Glu) n.376C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333577dup | CA2630256943 | POLG,POLGARF | c.178dup (p.Gln60ProfsTer?) c.233dup (p.Ser79LysfsTer?) n.376dup | gnomAD v4 |
| 15 | g.89333578C>A | CA7725169 | POLG,POLGARF | c.177G>T (p.Pro59=) c.232G>T (p.Ala78Ser) n.375G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333578C= | CA2194573076 | POLG,POLGARF | c.177G= (p.Pro59=) c.232G= (p.Ala78=) n.375G= | |
| 15 | g.89333578C>G | CA492290119 | POLG,POLGARF | c.177G>C (p.Pro59=) c.232G>C (p.Ala78Pro) n.375G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333578C>T | CA492290122 | POLG,POLGARF | c.177G>A (p.Pro59=) c.232G>A (p.Ala78Thr) n.375G>A | gnomAD v4 COSMIC |
| 15 | g.89333578_89333579insACA | CA2805168374 | POLG,POLGARF | c.176_177insTGT (p.Pro59_Gln60insVal) c.231_232insTGT (p.Ala77_Ala78insCys) n.374_375insTGT | |
| 15 | g.89333579G>A | CA16042908 | POLG,POLGARF | c.176C>T (p.Pro59Leu) c.231C>T (p.Ala77=) n.374C>T | ClinVar dbSNP COSMIC |
| 15 | g.89333579G>C | CA393773884 | POLG,POLGARF | c.176C>G (p.Pro59Arg) c.231C>G (p.Ala77=) n.374C>G | |
| 15 | g.89333579G= | CA2194573088 | POLG,POLGARF | c.176C= (p.Pro59=) c.231C= (p.Ala77=) n.374C= | |
| 15 | g.89333579G>T | CA393773887 | POLG,POLGARF | c.176C>A (p.Pro59Gln) c.231C>A (p.Ala77=) n.374C>A | gnomAD v4 |
| 15 | g.89333580del | CA2630256945 | POLG,POLGARF | c.176del (p.Pro59ArgfsTer?) c.231del (p.Ala78GlnfsTer?) n.374del | gnomAD v4 |
| 15 | g.89333587_89333595dup | CA7725168 | POLG,POLGARF | c.168_176dup (p.Pro59_Gln60insGlnGlnPro) c.223_231dup (p.Ala77_Ala78insSerAlaAla) n.366_374dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333587_89333595del | CA2630256944 | POLG,POLGARF | c.168_176del (p.Gln57_Pro59del) c.223_231del (p.Ser75_Ala77del) n.366_374del | gnomAD v4 |
| 15 | g.89333579_89333580insAGA | CA2805168375 | POLG,POLGARF | c.175_176insTCT (p.Pro59delinsLeuSer) c.230_231insTCT (p.Ala77_Ala78insLeu) n.373_374insTCT | |
| 15 | g.89333580G>A | CA393773902 | POLG,POLGARF | c.175C>T (p.Pro59Ser) c.230C>T (p.Ala77Val) n.373C>T | |
| 15 | g.89333580G>C | CA393773906 | POLG,POLGARF | c.175C>G (p.Pro59Ala) c.230C>G (p.Ala77Gly) n.373C>G | |
| 15 | g.89333580G>T | CA393773900 | POLG,POLGARF | c.175C>A (p.Pro59Thr) c.230C>A (p.Ala77Asp) n.373C>A | gnomAD v4 |
| 15 | g.89333584_89333595del | CA2630256947 | POLG,POLGARF | c.164_175del (p.Gln55_Gln58del) c.219_230del (p.Ala74_Ala77del) n.362_373del | gnomAD v4 |
| 15 | g.89333587_89333604dup | CA2630256948 | POLG,POLGARF | c.158_175dup (p.Gln58_Pro59insGlnGlnGlnProGlnGln) c.213_230dup (p.Ala77_Ala78insThrAlaAlaSerAlaAla) n.356_373dup | gnomAD v4 |
| 15 | g.89333587_89333604del | CA2630256946 | POLG,POLGARF | c.158_175del (p.Gln53_Gln58del) c.213_230del (p.Thr72_Ala77del) n.356_373del | gnomAD v4 |
| 15 | g.89333587_89333607dup | CA972594117 | POLG,POLGARF | c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln) c.210_230dup (p.Ala77_Ala78insAlaThrAlaAlaSerAlaAla) n.353_373dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333581C>A | CA393773911 | POLG,POLGARF | c.174G>T (p.Gln58His) c.229G>T (p.Ala77Ser) n.372G>T | |
| 15 | g.89333581C= | CA2194573095 | POLG,POLGARF | c.174G= (p.Gln58=) c.229G= (p.Ala77=) n.372G= | |
| 15 | g.89333581C>G | CA393773914 | POLG,POLGARF | c.174G>C (p.Gln58His) c.229G>C (p.Ala77Pro) n.372G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333581C>T | CA492290130 | POLG,POLGARF | c.174G>A (p.Gln58=) c.229G>A (p.Ala77Thr) n.372G>A | |
| 15 | g.89333582T>A | CA393773922 | POLG,POLGARF | c.173A>T (p.Gln58Leu) c.228A>T (p.Ala76=) n.371A>T | |
| 15 | g.89333582T>C | CA393773923 | POLG,POLGARF | c.173A>G (p.Gln58Arg) c.228A>G (p.Ala76=) n.371A>G | |
| 15 | g.89333582T>G | CA393773924 | POLG,POLGARF | c.173A>C (p.Gln58Pro) c.228A>C (p.Ala76=) n.371A>C | |
| 15 | g.89333583G>A | CA393773931 | POLG,POLGARF | c.172C>T (p.Gln58Ter) c.227C>T (p.Ala76Val) n.370C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333583G>C | CA393773926 | POLG,POLGARF | c.172C>G (p.Gln58Glu) c.227C>G (p.Ala76Gly) n.370C>G | |
| 15 | g.89333583G= | CA2194573097 | POLG,POLGARF | c.172C= (p.Gln58=) c.227C= (p.Ala76=) n.370C= | |
| 15 | g.89333583G>T | CA393773929 | POLG,POLGARF | c.172C>A (p.Gln58Lys) c.227C>A (p.Ala76Glu) n.370C>A | gnomAD v4 |
| 15 | g.89333584C>A | CA393773933 | POLG,POLGARF | c.171G>T (p.Gln57His) c.226G>T (p.Ala76Ser) n.369G>T | |
| 15 | g.89333584C>G | CA393773936 | POLG,POLGARF | c.171G>C (p.Gln57His) c.226G>C (p.Ala76Pro) n.369G>C | |
| 15 | g.89333584C>T | CA492290137 | POLG,POLGARF | c.171G>A (p.Gln57=) c.226G>A (p.Ala76Thr) n.369G>A | |
| 15 | g.89333584_89333585insACAT | CA2805168376 | POLG,POLGARF | c.170_171insATGT (p.Gln58CysfsTer?) c.225_226insATGT (p.Ala76MetfsTer?) n.368_369insATGT | |
| 15 | g.89333585T>A | CA393773939 | POLG,POLGARF | c.170A>T (p.Gln57Leu) c.225A>T (p.Ser75=) n.368A>T | |
| 15 | g.89333585T>C | CA274566394 | POLG,POLGARF | c.170A>G (p.Gln57Arg) c.225A>G (p.Ser75=) n.368A>G | dbSNP gnomAD v4 |
| 15 | g.89333585T>G | CA393773941 | POLG,POLGARF | c.170A>C (p.Gln57Pro) c.225A>C (p.Ser75=) n.368A>C | |
| 15 | g.89333585T= | CA2194573100 | POLG,POLGARF | c.170A= (p.Gln57=) c.225A= (p.Ser75=) n.368A= | |
| 15 | g.89333586G>A | CA393773949 | POLG,POLGARF | c.169C>T (p.Gln57Ter) c.224C>T (p.Ser75Leu) n.367C>T | gnomAD v4 |
| 15 | g.89333586G>C | CA393773946 | POLG,POLGARF | c.169C>G (p.Gln57Glu) c.224C>G (p.Ser75Ter) n.367C>G | |
| 15 | g.89333586G>T | CA393773948 | POLG,POLGARF | c.169C>A (p.Gln57Lys) c.224C>A (p.Ser75Ter) n.367C>A | gnomAD v4 |
| 15 | g.89333587_89333589del | CA2575828990 | POLG,POLGARF | c.167_169del (p.Pro56del) c.222_224del (p.Ser75del) n.365_367del | gnomAD v4 |
| 15 | g.89333586_89333587insT | CA2630256949 | POLG,POLGARF | c.168_169insA (p.Gln57ThrfsTer?) c.223_224insA (p.Ser75TyrfsTer?) n.366_367insA | gnomAD v4 |
| 15 | g.89333587A= | CA2194573106 | POLG,POLGARF | c.168T= (p.Pro56=) c.223T= (p.Ser75=) n.366T= | |
| 15 | g.89333587A>C | CA492290141 | POLG,POLGARF | c.168T>G (p.Pro56=) c.223T>G (p.Ser75Ala) n.366T>G | ClinVar gnomAD v4 |
| 15 | g.89333587A>G | CA492290142 | POLG,POLGARF | c.168T>C (p.Pro56=) c.223T>C (p.Ser75Pro) n.366T>C | |
| 15 | g.89333587A>T | CA492290143 | POLG,POLGARF | c.168T>A (p.Pro56=) c.223T>A (p.Ser75Thr) n.366T>A | gnomAD v4 |
| 15 | g.89333587_89333588delinsTT | CA645574969 | POLG,POLGARF | c.167_168delinsAA (p.Pro56Gln) c.222_223delinsAA (p.Ser75Thr) n.365_366delinsAA | COSMIC |
| 15 | g.89333588G>A | CA274566405 | POLG,POLGARF | c.167C>T (p.Pro56Leu) c.222C>T (p.Ala74=) n.365C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333588G>C | CA393773955 | POLG,POLGARF | c.167C>G (p.Pro56Arg) c.222C>G (p.Ala74=) n.365C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333588G= | CA2194573114 | POLG,POLGARF | c.167C= (p.Pro56=) c.222C= (p.Ala74=) n.365C= | |
| 15 | g.89333588G>T | CA393773956 | POLG,POLGARF | c.167C>A (p.Pro56His) c.222C>A (p.Ala74=) n.365C>A | dbSNP gnomAD v4 |
| 15 | g.89333588_89333591delinsGGCT | CA2194573120 | POLG,POLGARF | c.164_167delinsAGCC (p.Gln55=) c.219_222delinsAGCC (p.Ala73=) n.362_365delinsAGCC | |
| 15 | g.89333588_89333596dup | CA7725170 | POLG,POLGARF | c.159_167dup (p.Pro56_Gln57insGlnGlnPro) c.214_222dup (p.Ala74_Ser75insThrAlaAla) n.357_365dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333588_89333597delinsGGCTGCTGTT | CA2194573117 | POLG,POLGARF | c.158_167delinsAACAGCAGCC (p.Gln53=) c.213_222delinsAACAGCAGCC (p.Ala71=) n.356_365delinsAACAGCAGCC | |
| 15 | g.89333588_89333600delinsGGCTGCTGTTGCT | CA2194573118 | POLG,POLGARF | c.155_167delinsAGCAACAGCAGCC (p.Gln52=) c.210_222delinsAGCAACAGCAGCC (p.Ala70=) n.353_365delinsAGCAACAGCAGCC | |
| 15 | g.89333588_89333606delinsGGCTGCTGTTGCTGCTGCT | CA2194573116 | POLG,POLGARF | c.149_167delinsAGCAGCAGCAACAGCAGCC (p.Gln50=) c.204_222delinsAGCAGCAGCAACAGCAGCC (p.Ala68=) n.347_365delinsAGCAGCAGCAACAGCAGCC | |
| 15 | g.89333588_89333612delinsGGCTGCTGTTGCTGCTGCTGCTGCT | CA2194573115 | POLG,POLGARF | c.143_167delinsAGCAGCAGCAGCAGCAACAGCAGCC (p.Gln48=) c.198_222delinsAGCAGCAGCAGCAGCAACAGCAGCC (p.Ala66=) n.341_365delinsAGCAGCAGCAGCAGCAACAGCAGCC | |
| 15 | g.89333588_89333589insCT | CA2630256953 | POLG,POLGARF | c.166_167insAG (p.Pro56GlnfsTer?) c.221_222insAG (p.Ser75AlafsTer?) n.364_365insAG | gnomAD v4 |
| 15 | g.89333589G>A | CA393773973 | POLG,POLGARF | c.166C>T (p.Pro56Ser) c.221C>T (p.Ala74Val) n.364C>T | dbSNP gnomAD v4 |
| 15 | g.89333589G>C | CA393773975 | POLG,POLGARF | c.166C>G (p.Pro56Ala) c.221C>G (p.Ala74Gly) n.364C>G | |
| 15 | g.89333589G= | CA2194573144 | POLG,POLGARF | c.166C= (p.Pro56=) c.221C= (p.Ala74=) n.364C= | |
| 15 | g.89333589G>T | CA393773981 | POLG,POLGARF | c.166C>A (p.Pro56Thr) c.221C>A (p.Ala74Asp) n.364C>A | |
| 15 | g.89333593_89333595dup | CA2194573149 | POLG,POLGARF | c.164_166dup (p.Gln55_Pro56insGln) c.219_221dup (p.Ala74_Ser75insAla) n.362_364dup | ClinVar dbSNP |
| 15 | g.89333590_89333595dup | CA2194573150 | POLG,POLGARF | c.161_166dup (p.Gln55_Pro56insGlnGln) c.216_221dup (p.Ala74_Ser75insAlaAla) n.359_364dup | ClinVar dbSNP |
| 15 | g.89333593_89333595del | CA7725175 | POLG,POLGARF | c.164_166del (p.Gln55del) c.219_221del (p.Ala74del) n.362_364del | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 15 | g.89333596_89333604dup | CA7725174 | POLG,POLGARF | c.158_166dup (p.Gln55_Pro56insGlnGlnGln) c.213_221dup (p.Ala74_Ser75insThrAlaAla) n.356_364dup | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333604del | CA7725171 | POLG,POLGARF | c.158_166del (p.Gln53_Gln55del) c.213_221del (p.Thr72_Ala74del) n.356_364del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333607dup | CA7725173 | POLG,POLGARF | c.155_166dup (p.Gln55_Pro56insGlnGlnGlnGln) c.210_221dup (p.Ala74_Ser75insAlaThrAlaAla) n.353_364dup | dbSNP ExAC gnomAD v4 |
| 15 | g.89333596_89333607del | CA316625 | POLG,POLGARF | c.155_166del (p.Gln52_Gln55del) c.210_221del (p.Ala71_Ala74del) n.353_364del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333610dup | CA2697549352 | POLG,POLGARF | c.152_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGln) c.207_221dup (p.Ala74_Ser75insAlaAlaThrAlaAla) n.350_364dup | ClinVar |
| 15 | g.89333596_89333610del | CA2630256952 | POLG,POLGARF | c.152_166del (p.Gln51_Gln55del) c.207_221del (p.Ala70_Ala74del) n.350_364del | gnomAD v4 |
| 15 | g.89333596_89333613dup | CA619857516 | POLG,POLGARF | c.149_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGln) c.204_221dup (p.Ala74_Ser75insAlaAlaAlaThrAlaAla) n.347_364dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333596_89333613del | CA716918017 | POLG,POLGARF | c.149_166del (p.Gln50_Gln55del) c.204_221del (p.Ala69_Ala74del) n.347_364del | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333596_89333616dup | CA2194573138 | POLG,POLGARF | c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln) c.201_221dup (p.Ala74_Ser75insAlaAlaAlaAlaThrAlaAla) n.344_364dup | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333596_89333616del | CA2630256951 | POLG,POLGARF | c.146_166del (p.Gln49_Gln55del) c.201_221del (p.Ala68_Ala74del) n.344_364del | gnomAD v4 |
| 15 | g.89333596_89333619dup | CA7725172 | POLG,POLGARF | c.143_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGlnGln) c.198_221dup (p.Ala74_Ser75insAlaAlaAlaAlaAlaThrAlaAla) n.341_364dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333619del | CA2194573140 | POLG,POLGARF | c.143_166del (p.Gln48_Gln55del) c.198_221del (p.Ala67_Ala74del) n.341_364del | ClinVar dbSNP |
| 15 | g.89333596_89333625del | CA2630256950 | POLG,POLGARF | c.137_166del (p.Gln46_Gln55del) c.192_221del (p.Ala65_Ala74del) n.335_364del | gnomAD v4 |
| 15 | g.89333590C>A | CA393774000 | POLG,POLGARF | c.165G>T (p.Gln55His) c.220G>T (p.Ala74Ser) n.363G>T | gnomAD v4 |
| 15 | g.89333590C= | CA2194573164 | POLG,POLGARF | c.165G= (p.Gln55=) c.220G= (p.Ala74=) n.363G= | |
| 15 | g.89333590C>G | CA393774001 | POLG,POLGARF | c.165G>C (p.Gln55His) c.220G>C (p.Ala74Pro) n.363G>C | |
| 15 | g.89333590C>T | CA492290159 | POLG,POLGARF | c.165G>A (p.Gln55=) c.220G>A (p.Ala74Thr) n.363G>A | ClinVar dbSNP |
| 15 | g.89333591T>A | CA393774004 | POLG,POLGARF | c.164A>T (p.Gln55Leu) c.219A>T (p.Ala73=) n.362A>T | |
| 15 | g.89333591T>C | CA393774019 | POLG,POLGARF | c.164A>G (p.Gln55Arg) c.219A>G (p.Ala73=) n.362A>G | |
| 15 | g.89333591T>G | CA393774022 | POLG,POLGARF | c.164A>C (p.Gln55Pro) c.219A>C (p.Ala73=) n.362A>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333591T= | CA2194573177 | POLG,POLGARF | c.164A= (p.Gln55=) c.219A= (p.Ala73=) n.362A= | |
| 15 | g.89333595_89333596insCTGTTGCTG | CA2697549353 | POLG,POLGARF | c.164_165insACAGCAGCA (p.Gln55_Pro56insGlnGlnGln) c.219_220insACAGCAGCA (p.Ala73_Ala74insThrAlaAla) n.362_363insACAGCAGCA | |
| 15 | g.89333596_89333601dup | CA7725176 | POLG,POLGARF | c.159_164dup (p.Gln55_Pro56insGlnGln) c.214_219dup (p.Ala73_Ala74insThrAla) n.357_362dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333601del | CA2630256954 | POLG,POLGARF | c.159_164del (p.Gln54_Gln55del) c.214_219del (p.Thr72_Ala73del) n.357_362del | gnomAD v4 |
| 15 | g.89333592G>A | CA393774032 | POLG,POLGARF | c.163C>T (p.Gln55Ter) c.218C>T (p.Ala73Val) n.361C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333592G>C | CA393774040 | POLG,POLGARF | c.163C>G (p.Gln55Glu) c.218C>G (p.Ala73Gly) n.361C>G | |
| 15 | g.89333592G= | CA2194573188 | POLG,POLGARF | c.163C= (p.Gln55=) c.218C= (p.Ala73=) n.361C= | |
| 15 | g.89333592G>T | CA393774043 | POLG,POLGARF | c.163C>A (p.Gln55Lys) c.218C>A (p.Ala73Glu) n.361C>A | gnomAD v4 |
| 15 | g.89333595_89333596insAGGCTG | CA716918053 | POLG,POLGARF | c.163_164insCTCAGC (p.Gln54_Gln55insProGln) c.218_219insCTCAGC (p.Ala73_Ala74insSerAla) n.361_362insCTCAGC | dbSNP |
| 15 | g.89333593C>A | CA393774046 | POLG,POLGARF | c.162G>T (p.Gln54His) c.217G>T (p.Ala73Ser) n.360G>T | |
| 15 | g.89333593C= | CA2194573195 | POLG,POLGARF | c.162G= (p.Gln54=) c.217G= (p.Ala73=) n.360G= | |
| 15 | g.89333593C>G | CA393774051 | POLG,POLGARF | c.162G>C (p.Gln54His) c.217G>C (p.Ala73Pro) n.360G>C | |
| 15 | g.89333593C>T | CA316626 | POLG,POLGARF | c.162G>A (p.Gln54=) c.217G>A (p.Ala73Thr) n.360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333593_89333596delinsCTGT | CA2194573193 | POLG,POLGARF | c.159_162delinsACAG (p.Gln53=) c.214_217delinsACAG (p.Thr72=) n.357_360delinsACAG | |
| 15 | g.89333594T>A | CA393774055 | POLG,POLGARF | c.161A>T (p.Gln54Leu) c.216A>T (p.Thr72=) n.359A>T | |
| 15 | g.89333594T>C | CA393774057 | POLG,POLGARF | c.161A>G (p.Gln54Arg) c.216A>G (p.Thr72=) n.359A>G | |
| 15 | g.89333594T>G | CA7725178 | POLG,POLGARF | c.161A>C (p.Gln54Pro) c.216A>C (p.Thr72=) n.359A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333594T= | CA2194573203 | POLG,POLGARF | c.161A= (p.Gln54=) c.216A= (p.Thr72=) n.359A= | |
| 15 | g.89333596_89333598dup | CA316620 | POLG,POLGARF | c.159_161dup (p.Gln54_Gln55insGln) c.214_216dup (p.Thr72_Ala73insThr) n.357_359dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596_89333598del | CA7725177 | POLG,POLGARF | c.159_161del (p.Gln54del) c.214_216del (p.Thr72del) n.357_359del | dbSNP ExAC gnomAD v4 |
| 15 | g.89333595G>A | CA7725179 | POLG,POLGARF | c.160C>T (p.Gln54Ter) c.215C>T (p.Thr72Ile) n.358C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333595G>C | CA393774073 | POLG,POLGARF | c.160C>G (p.Gln54Glu) c.215C>G (p.Thr72Arg) n.358C>G | |
| 15 | g.89333595G= | CA2194573240 | POLG,POLGARF | c.160C= (p.Gln54=) c.215C= (p.Thr72=) n.358C= | |
| 15 | g.89333595G>T | CA393774071 | POLG,POLGARF | c.160C>A (p.Gln54Lys) c.215C>A (p.Thr72Lys) n.358C>A | gnomAD v4 |
| 15 | g.89333595_89333596delinsGT | CA2194573211 | POLG,POLGARF | c.159_160delinsAC (p.Gln53=) c.214_215delinsAC (p.Thr72=) n.357_358delinsAC | |
| 15 | g.89333595_89333596insC | CA619857517 | POLG,POLGARF | c.159_160insG (p.Gln54AlafsTer?) c.214_215insG (p.Thr72SerfsTer?) n.357_358insG | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333595_89333596insAGGC | CA619857518 | POLG,POLGARF | c.159_160insGCCT (p.Gln54AlafsTer?) c.214_215insGCCT (p.Thr72SerfsTer?) n.357_358insGCCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333596T>A | CA10602197 | POLG,POLGARF | c.159A>T (p.Gln53His) c.214A>T (p.Thr72Ser) n.357A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333596T>C | CA292850 | POLG,POLGARF | c.159A>G (p.Gln53=) c.214A>G (p.Thr72Ala) n.357A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333596T>G | CA393774081 | POLG,POLGARF | c.159A>C (p.Gln53His) c.214A>C (p.Thr72Pro) n.357A>C | |
| 15 | g.89333596T= | CA913187360 | POLG,POLGARF | c.159A= (p.Gln53=) c.214A= (p.Thr72=) n.357A= | |
| 15 | g.89333596delinsAGGCTGCTGTTGC | CA915946108 | POLG,POLGARF | c.159delinsGCAACAGCAGCCT (p.Gln53_Gln54insGlnGlnGlnPro) c.214delinsGCAACAGCAGCCT (p.Thr72delinsAlaThrAlaAlaSer) n.357delinsGCAACAGCAGCCT | ClinVar dbSNP |
| 15 | g.89333596_89333597delinsAG | CA10602308 | POLG,POLGARF | c.158_159delinsCT (p.Gln53Pro) c.213_214delinsCT (p.Thr72Ser) n.356_357delinsCT | ClinVar dbSNP |
| 15 | g.89333596_89333597delinsTT | CA2194573250 | POLG,POLGARF | c.158_159delinsAA (p.Gln53=) c.213_214delinsAA (p.Ala71=) n.356_357delinsAA | |
| 15 | g.89333596_89333599delinsTTGC | CA2740090098 | POLG,POLGARF | c.156_159delinsGCAA (p.Gln52=) c.211_214delinsGCAA (p.Ala71=) n.354_357delinsGCAA | |
| 15 | g.89333596_89333626delinsTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | CA2194573254 | POLG,POLGARF | c.129_159delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Gln43=) c.184_214delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Ala62=) n.327_357delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA |