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.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 |