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.89330140_89330142del | CA2575828956 | POLG | c.795_797del (p.Val266del) c.396_398del (p.Val133del) c.452_454del n.993_995del c.*178_*180del (n.*178_*180del) | gnomAD v4 |
| 15 | g.89330141T>A | CA393766818 | POLG | c.795A>T (p.Leu265Phe) c.396A>T (p.Leu132Phe) c.452A>T n.993A>T c.*178A>T (n.*178A>T) | |
| 15 | g.89330141T>C | CA492080293 | POLG | c.795A>G (p.Leu265=) c.396A>G (p.Leu132=) c.452A>G n.993A>G c.*178A>G (n.*178A>G) | |
| 15 | g.89330141T>G | CA393766820 | POLG | c.795A>C (p.Leu265Phe) c.396A>C (p.Leu132Phe) c.452A>C n.993A>C c.*178A>C (n.*178A>C) | |
| 15 | g.89330142A>C | CA393766824 | POLG | c.794T>G (p.Leu265Ter) c.395T>G (p.Leu132Ter) c.451T>G n.992T>G c.*177T>G (n.*177T>G) | |
| 15 | g.89330142A>G | CA393766827 | POLG | c.794T>C (p.Leu265Ser) c.395T>C (p.Leu132Ser) c.451T>C n.992T>C c.*177T>C (n.*177T>C) | |
| 15 | g.89330142A>T | CA393766830 | POLG | c.794T>A (p.Leu265Ter) c.395T>A (p.Leu132Ter) c.451T>A n.992T>A c.*177T>A (n.*177T>A) | |
| 15 | g.89330142_89330143del | CA2695197354 | POLG | c.793_794del (p.Leu265SerfsTer9) c.394_395del (p.Leu132SerfsTer9) c.450_451del n.991_992del c.*176_*177del (n.*176_*177del) | ClinVar |
| 15 | g.89330143A= | CA2194565249 | POLG | c.793T= (p.Leu265=) c.394T= (p.Leu132=) c.450T= n.991T= c.*176T= (n.*176T=) | |
| 15 | g.89330143A>C | CA7725039 | POLG | c.793T>G (p.Leu265Val) c.394T>G (p.Leu132Val) c.450T>G n.991T>G c.*176T>G (n.*176T>G) | dbSNP ExAC |
| 15 | g.89330143A>G | CA492080304 | POLG | c.793T>C (p.Leu265=) c.394T>C (p.Leu132=) c.450T>C n.991T>C c.*176T>C (n.*176T>C) | |
| 15 | g.89330143A>T | CA393766834 | POLG | c.793T>A (p.Leu265Ile) c.394T>A (p.Leu132Ile) c.450T>A n.991T>A c.*176T>A (n.*176T>A) | |
| 15 | g.89330144C>A | CA393766837 | POLG | c.792G>T (p.Gln264His) c.393G>T (p.Gln131His) c.449G>T n.990G>T c.*175G>T (n.*175G>T) | |
| 15 | g.89330144C>G | CA393766838 | POLG | c.792G>C (p.Gln264His) c.393G>C (p.Gln131His) c.449G>C n.990G>C c.*175G>C (n.*175G>C) | |
| 15 | g.89330144C>T | CA492080307 | POLG | c.792G>A (p.Gln264=) c.393G>A (p.Gln131=) c.449G>A n.990G>A c.*175G>A (n.*175G>A) | gnomAD v4 |
| 15 | g.89330145T>A | CA393766843 | POLG | c.791A>T (p.Gln264Leu) c.392A>T (p.Gln131Leu) c.448A>T n.989A>T c.*174A>T (n.*174A>T) | |
| 15 | g.89330145T>C | CA393766842 | POLG | c.791A>G (p.Gln264Arg) c.392A>G (p.Gln131Arg) c.448A>G n.989A>G c.*174A>G (n.*174A>G) | |
| 15 | g.89330145T>G | CA393766841 | POLG | c.791A>C (p.Gln264Pro) c.392A>C (p.Gln131Pro) c.448A>C n.989A>C c.*174A>C (n.*174A>C) | gnomAD v4 |
| 15 | g.89330146G>A | CA393766844 | POLG | c.790C>T (p.Gln264Ter) c.391C>T (p.Gln131Ter) c.447C>T n.988C>T c.*173C>T (n.*173C>T) | |
| 15 | g.89330146G>C | CA7725040 | POLG | c.790C>G (p.Gln264Glu) c.391C>G (p.Gln131Glu) c.447C>G n.988C>G c.*173C>G (n.*173C>G) | dbSNP ExAC gnomAD v4 |
| 15 | g.89330146G= | CA2194565255 | POLG | c.790C= (p.Gln264=) c.391C= (p.Gln131=) c.447C= n.988C= c.*173C= (n.*173C=) | |
| 15 | g.89330146G>T | CA393766847 | POLG | c.790C>A (p.Gln264Lys) c.391C>A (p.Gln131Lys) c.447C>A n.988C>A c.*173C>A (n.*173C>A) | ClinVar |
| 15 | g.89330147C>A | CA393766850 | POLG | c.789G>T (p.Glu263Asp) c.390G>T (p.Glu130Asp) c.446G>T n.987G>T c.*172G>T (n.*172G>T) | |
| 15 | g.89330147C>G | CA393766853 | POLG | c.789G>C (p.Glu263Asp) c.390G>C (p.Glu130Asp) c.446G>C n.987G>C c.*172G>C (n.*172G>C) | |
| 15 | g.89330147C>T | CA492080322 | POLG | c.789G>A (p.Glu263=) c.390G>A (p.Glu130=) c.446G>A n.987G>A c.*172G>A (n.*172G>A) | |
| 15 | g.89330148T>A | CA393766858 | POLG | c.788A>T (p.Glu263Val) c.389A>T (p.Glu130Val) c.445A>T n.986A>T c.*171A>T (n.*171A>T) | |
| 15 | g.89330148T>C | CA7725041 | POLG | c.788A>G (p.Glu263Gly) c.389A>G (p.Glu130Gly) c.445A>G n.986A>G c.*171A>G (n.*171A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89330148T>G | CA393766860 | POLG | c.788A>C (p.Glu263Ala) c.389A>C (p.Glu130Ala) c.445A>C n.986A>C c.*171A>C (n.*171A>C) | |
| 15 | g.89330148T= | CA2194565259 | POLG | c.788A= (p.Glu263=) c.389A= (p.Glu130=) c.445A= n.986A= c.*171A= (n.*171A=) | |
| 15 | g.89330149C>A | CA393766863 | POLG | c.787G>T (p.Glu263Ter) c.388G>T (p.Glu130Ter) c.444G>T n.985G>T c.*170G>T (n.*170G>T) | |
| 15 | g.89330149C>G | CA393766865 | POLG | c.787G>C (p.Glu263Gln) c.388G>C (p.Glu130Gln) c.444G>C n.985G>C c.*170G>C (n.*170G>C) | |
| 15 | g.89330149C>T | CA393766866 | POLG | c.787G>A (p.Glu263Lys) c.388G>A (p.Glu130Lys) c.444G>A n.985G>A c.*170G>A (n.*170G>A) | |
| 15 | g.89330150C>A | CA393766869 | POLG | c.786G>T (p.Gln262His) c.387G>T (p.Gln129His) c.443G>T n.984G>T c.*169G>T (n.*169G>T) | |
| 15 | g.89330150C>G | CA393766870 | POLG | c.786G>C (p.Gln262His) c.387G>C (p.Gln129His) c.443G>C n.984G>C c.*169G>C (n.*169G>C) | |
| 15 | g.89330150C>T | CA492080340 | POLG | c.786G>A (p.Gln262=) c.387G>A (p.Gln129=) c.443G>A n.984G>A c.*169G>A (n.*169G>A) | |
| 15 | g.89330151T>A | CA393766875 | POLG | c.785A>T (p.Gln262Leu) c.386A>T (p.Gln129Leu) c.442A>T n.983A>T c.*168A>T (n.*168A>T) | |
| 15 | g.89330151T>C | CA393766872 | POLG | c.785A>G (p.Gln262Arg) c.386A>G (p.Gln129Arg) c.442A>G n.983A>G c.*168A>G (n.*168A>G) | |
| 15 | g.89330151T>G | CA393766873 | POLG | c.785A>C (p.Gln262Pro) c.386A>C (p.Gln129Pro) c.442A>C n.983A>C c.*168A>C (n.*168A>C) | |
| 15 | g.89330152G>A | CA7725042 | POLG | c.784C>T (p.Gln262Ter) c.385C>T (p.Gln129Ter) c.441C>T n.982C>T c.*167C>T (n.*167C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89330152G>C | CA393766881 | POLG | c.784C>G (p.Gln262Glu) c.385C>G (p.Gln129Glu) c.441C>G n.982C>G c.*167C>G (n.*167C>G) | |
| 15 | g.89330152G= | CA2194565266 | POLG | c.784C= (p.Gln262=) c.385C= (p.Gln129=) c.441C= n.982C= c.*167C= (n.*167C=) | |
| 15 | g.89330152G>T | CA393766882 | POLG | c.784C>A (p.Gln262Lys) c.385C>A (p.Gln129Lys) c.441C>A n.982C>A c.*167C>A (n.*167C>A) | |
| 15 | g.89330153C>A | CA393766884 | POLG | c.783G>T (p.Trp261Cys) c.384G>T (p.Trp128Cys) c.440G>T n.981G>T c.*166G>T (n.*166G>T) | |
| 15 | g.89330153C>G | CA393766885 | POLG | c.783G>C (p.Trp261Cys) c.384G>C (p.Trp128Cys) c.440G>C n.981G>C c.*166G>C (n.*166G>C) | |
| 15 | g.89330153C>T | CA393766887 | POLG | c.783G>A (p.Trp261Ter) c.384G>A (p.Trp128Ter) c.440G>A n.981G>A c.*166G>A (n.*166G>A) | COSMIC |
| 15 | g.89330154C>A | CA393766890 | POLG | c.782G>T (p.Trp261Leu) c.383G>T (p.Trp128Leu) c.439G>T n.980G>T c.*165G>T (n.*165G>T) | |
| 15 | g.89330154C>G | CA393766891 | POLG | c.782G>C (p.Trp261Ser) c.383G>C (p.Trp128Ser) c.439G>C n.980G>C c.*165G>C (n.*165G>C) | |
| 15 | g.89330154C>T | CA393766893 | POLG | c.782G>A (p.Trp261Ter) c.383G>A (p.Trp128Ter) c.439G>A n.980G>A c.*165G>A (n.*165G>A) | |
| 15 | g.89330155A>C | CA393766895 | POLG | c.781T>G (p.Trp261Gly) c.382T>G (p.Trp128Gly) c.438T>G n.979T>G c.*164T>G (n.*164T>G) | |
| 15 | g.89330155A>G | CA393766897 | POLG | c.781T>C (p.Trp261Arg) c.382T>C (p.Trp128Arg) c.438T>C n.979T>C c.*164T>C (n.*164T>C) |