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 |
|---|---|---|---|---|---|
| 20 | g.25307991T>A | CA408455852 | ABHD12 | c.842A>T (p.Glu281Val) c.296A>T (p.Glu99Val) n.353A>T c.*181A>T (n.*181A>T) c.371A>T (p.Glu124Val) c.398A>T (p.Glu133Val) c.404A>T n.496A>T c.146A>T (p.Glu49Val) c.185A>T (p.Glu62Val) n.852A>T n.972A>T n.531A>T | |
| 20 | g.25307991T>C | CA408455854 | ABHD12 | c.842A>G (p.Glu281Gly) c.296A>G (p.Glu99Gly) n.353A>G c.*181A>G (n.*181A>G) c.371A>G (p.Glu124Gly) c.398A>G (p.Glu133Gly) c.404A>G n.496A>G c.146A>G (p.Glu49Gly) c.185A>G (p.Glu62Gly) n.852A>G n.972A>G n.531A>G | |
| 20 | g.25307991T>G | CA408455853 | ABHD12 | c.842A>C (p.Glu281Ala) c.296A>C (p.Glu99Ala) n.353A>C c.*181A>C (n.*181A>C) c.371A>C (p.Glu124Ala) c.398A>C (p.Glu133Ala) c.404A>C n.496A>C c.146A>C (p.Glu49Ala) c.185A>C (p.Glu62Ala) n.852A>C n.972A>C n.531A>C | |
| 20 | g.25307992C>A | CA408455855 | ABHD12 | c.841G>T (p.Glu281Ter) c.295G>T (p.Glu99Ter) n.352G>T c.*180G>T (n.*180G>T) c.370G>T (p.Glu124Ter) c.397G>T (p.Glu133Ter) c.403G>T n.495G>T c.145G>T (p.Glu49Ter) c.184G>T (p.Glu62Ter) n.851G>T n.971G>T n.530G>T | gnomAD v4 |
| 20 | g.25307992C>G | CA408455856 | ABHD12 | c.841G>C (p.Glu281Gln) c.295G>C (p.Glu99Gln) n.352G>C c.*180G>C (n.*180G>C) c.370G>C (p.Glu124Gln) c.397G>C (p.Glu133Gln) c.403G>C n.495G>C c.145G>C (p.Glu49Gln) c.184G>C (p.Glu62Gln) n.851G>C n.971G>C n.530G>C | |
| 20 | g.25307992C>T | CA408455857 | ABHD12 | c.841G>A (p.Glu281Lys) c.295G>A (p.Glu99Lys) n.352G>A c.*180G>A (n.*180G>A) c.370G>A (p.Glu124Lys) c.397G>A (p.Glu133Lys) c.403G>A n.495G>A c.145G>A (p.Glu49Lys) c.184G>A (p.Glu62Lys) n.851G>A n.971G>A n.530G>A | |
| 20 | g.25307993T>A | CA408455858 | ABHD12 | c.840A>T (p.Glu280Asp) c.294A>T (p.Glu98Asp) n.351A>T c.*179A>T (n.*179A>T) c.369A>T (p.Glu123Asp) c.396A>T (p.Glu132Asp) c.402A>T n.494A>T c.144A>T (p.Glu48Asp) c.183A>T (p.Glu61Asp) n.850A>T n.970A>T n.529A>T | |
| 20 | g.25307993T>C | CA313719451 | ABHD12 | c.840A>G (p.Glu280=) c.294A>G (p.Glu98=) n.351A>G c.*179A>G (n.*179A>G) c.369A>G (p.Glu123=) c.396A>G (p.Glu132=) c.402A>G n.494A>G c.144A>G (p.Glu48=) c.183A>G (p.Glu61=) n.850A>G n.970A>G n.529A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.25307993T>G | CA408455859 | ABHD12 | c.840A>C (p.Glu280Asp) c.294A>C (p.Glu98Asp) n.351A>C c.*179A>C (n.*179A>C) c.369A>C (p.Glu123Asp) c.396A>C (p.Glu132Asp) c.402A>C n.494A>C c.144A>C (p.Glu48Asp) c.183A>C (p.Glu61Asp) n.850A>C n.970A>C n.529A>C | |
| 20 | g.25307993T= | CA2356806466 | ABHD12 | c.840A= (p.Glu280=) c.294A= (p.Glu98=) n.351A= c.*179A= (n.*179A=) c.369A= (p.Glu123=) c.396A= (p.Glu132=) c.402A= n.494A= c.144A= (p.Glu48=) c.183A= (p.Glu61=) n.850A= n.970A= n.529A= | |
| 20 | g.25307994T>A | CA408455860 | ABHD12 | c.839A>T (p.Glu280Val) c.293A>T (p.Glu98Val) n.350A>T c.*178A>T (n.*178A>T) c.368A>T (p.Glu123Val) c.395A>T (p.Glu132Val) c.401A>T n.493A>T c.143A>T (p.Glu48Val) c.182A>T (p.Glu61Val) n.849A>T n.969A>T n.528A>T | |
| 20 | g.25307994T>C | CA9795965 | ABHD12 | c.839A>G (p.Glu280Gly) c.293A>G (p.Glu98Gly) n.350A>G c.*178A>G (n.*178A>G) c.368A>G (p.Glu123Gly) c.395A>G (p.Glu132Gly) c.401A>G n.493A>G c.143A>G (p.Glu48Gly) c.182A>G (p.Glu61Gly) n.849A>G n.969A>G n.528A>G | dbSNP ExAC |
| 20 | g.25307994T>G | CA408455861 | ABHD12 | c.839A>C (p.Glu280Ala) c.293A>C (p.Glu98Ala) n.350A>C c.*178A>C (n.*178A>C) c.368A>C (p.Glu123Ala) c.395A>C (p.Glu132Ala) c.401A>C n.493A>C c.143A>C (p.Glu48Ala) c.182A>C (p.Glu61Ala) n.849A>C n.969A>C n.528A>C | |
| 20 | g.25307994T= | CA2356806467 | ABHD12 | c.839A= (p.Glu280=) c.293A= (p.Glu98=) n.350A= c.*178A= (n.*178A=) c.368A= (p.Glu123=) c.395A= (p.Glu132=) c.401A= n.493A= c.143A= (p.Glu48=) c.182A= (p.Glu61=) n.849A= n.969A= n.528A= | |
| 20 | g.25307995C>A | CA313719460 | ABHD12 | c.838G>T (p.Glu280Ter) c.292G>T (p.Glu98Ter) n.349G>T c.*177G>T (n.*177G>T) c.367G>T (p.Glu123Ter) c.394G>T (p.Glu132Ter) c.400G>T n.492G>T c.142G>T (p.Glu48Ter) c.181G>T (p.Glu61Ter) n.848G>T n.968G>T n.527G>T | dbSNP |
| 20 | g.25307995C= | CA2356806468 | ABHD12 | c.838G= (p.Glu280=) c.292G= (p.Glu98=) n.349G= c.*177G= (n.*177G=) c.367G= (p.Glu123=) c.394G= (p.Glu132=) c.400G= n.492G= c.142G= (p.Glu48=) c.181G= (p.Glu61=) n.848G= n.968G= n.527G= | |
| 20 | g.25307995C>G | CA408455862 | ABHD12 | c.838G>C (p.Glu280Gln) c.292G>C (p.Glu98Gln) n.349G>C c.*177G>C (n.*177G>C) c.367G>C (p.Glu123Gln) c.394G>C (p.Glu132Gln) c.400G>C n.492G>C c.142G>C (p.Glu48Gln) c.181G>C (p.Glu61Gln) n.848G>C n.968G>C n.527G>C | |
| 20 | g.25307995C>T | CA408455863 | ABHD12 | c.838G>A (p.Glu280Lys) c.292G>A (p.Glu98Lys) n.349G>A c.*177G>A (n.*177G>A) c.367G>A (p.Glu123Lys) c.394G>A (p.Glu132Lys) c.400G>A n.492G>A c.142G>A (p.Glu48Lys) c.181G>A (p.Glu61Lys) n.848G>A n.968G>A n.527G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25307996G>A | CA151562 | ABHD12 | c.837C>T (p.Arg279=) c.291C>T (p.Arg97=) n.348C>T c.*176C>T (n.*176C>T) c.366C>T (p.Arg122=) c.393C>T (p.Arg131=) c.399C>T n.491C>T c.141C>T (p.Arg47=) c.180C>T (p.Arg60=) n.847C>T n.967C>T n.526C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25307996G>C | CA509892659 | ABHD12 | c.837C>G (p.Arg279=) c.291C>G (p.Arg97=) n.348C>G c.*176C>G (n.*176C>G) c.366C>G (p.Arg122=) c.393C>G (p.Arg131=) c.399C>G n.491C>G c.141C>G (p.Arg47=) c.180C>G (p.Arg60=) n.847C>G n.967C>G n.526C>G | |
| 20 | g.25307996G= | CA2356806469 | ABHD12 | c.837C= (p.Arg279=) c.291C= (p.Arg97=) n.348C= c.*176C= (n.*176C=) c.366C= (p.Arg122=) c.393C= (p.Arg131=) c.399C= n.491C= c.141C= (p.Arg47=) c.180C= (p.Arg60=) n.847C= n.967C= n.526C= | |
| 20 | g.25307996G>T | CA509892658 | ABHD12 | c.837C>A (p.Arg279=) c.291C>A (p.Arg97=) n.348C>A c.*176C>A (n.*176C>A) c.366C>A (p.Arg122=) c.393C>A (p.Arg131=) c.399C>A n.491C>A c.141C>A (p.Arg47=) c.180C>A (p.Arg60=) n.847C>A n.967C>A n.526C>A | gnomAD v4 |
| 20 | g.25307997C>A | CA408455864 | ABHD12 | c.836G>T (p.Arg279Leu) c.290G>T (p.Arg97Leu) n.347G>T c.*175G>T (n.*175G>T) c.365G>T (p.Arg122Leu) c.392G>T (p.Arg131Leu) c.398G>T n.490G>T c.140G>T (p.Arg47Leu) c.179G>T (p.Arg60Leu) n.846G>T n.966G>T n.525G>T | gnomAD v4 |
| 20 | g.25307997C= | CA2356806470 | ABHD12 | c.836G= (p.Arg279=) c.290G= (p.Arg97=) n.347G= c.*175G= (n.*175G=) c.365G= (p.Arg122=) c.392G= (p.Arg131=) c.398G= n.490G= c.140G= (p.Arg47=) c.179G= (p.Arg60=) n.846G= n.966G= n.525G= | |
| 20 | g.25307997C>G | CA408455865 | ABHD12 | c.836G>C (p.Arg279Pro) c.290G>C (p.Arg97Pro) n.347G>C c.*175G>C (n.*175G>C) c.365G>C (p.Arg122Pro) c.392G>C (p.Arg131Pro) c.398G>C n.490G>C c.140G>C (p.Arg47Pro) c.179G>C (p.Arg60Pro) n.846G>C n.966G>C n.525G>C | |
| 20 | g.25307997C>T | CA9795966 | ABHD12 | c.836G>A (p.Arg279His) c.290G>A (p.Arg97His) n.347G>A c.*175G>A (n.*175G>A) c.365G>A (p.Arg122His) c.392G>A (p.Arg131His) c.398G>A n.490G>A c.140G>A (p.Arg47His) c.179G>A (p.Arg60His) n.846G>A n.966G>A n.525G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25307998G>A | CA9795967 | ABHD12 | c.835C>T (p.Arg279Cys) c.289C>T (p.Arg97Cys) n.346C>T c.*174C>T (n.*174C>T) c.364C>T (p.Arg122Cys) c.391C>T (p.Arg131Cys) c.397C>T n.489C>T c.139C>T (p.Arg47Cys) c.178C>T (p.Arg60Cys) n.845C>T n.965C>T n.524C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.25307998G>C | CA408455866 | ABHD12 | c.835C>G (p.Arg279Gly) c.289C>G (p.Arg97Gly) n.346C>G c.*174C>G (n.*174C>G) c.364C>G (p.Arg122Gly) c.391C>G (p.Arg131Gly) c.397C>G n.489C>G c.139C>G (p.Arg47Gly) c.178C>G (p.Arg60Gly) n.845C>G n.965C>G n.524C>G | |
| 20 | g.25307998G= | CA2356806471 | ABHD12 | c.835C= (p.Arg279=) c.289C= (p.Arg97=) n.346C= c.*174C= (n.*174C=) c.364C= (p.Arg122=) c.391C= (p.Arg131=) c.397C= n.489C= c.139C= (p.Arg47=) c.178C= (p.Arg60=) n.845C= n.965C= n.524C= | |
| 20 | g.25307998G>T | CA408455867 | ABHD12 | c.835C>A (p.Arg279Ser) c.289C>A (p.Arg97Ser) n.346C>A c.*174C>A (n.*174C>A) c.364C>A (p.Arg122Ser) c.391C>A (p.Arg131Ser) c.397C>A n.489C>A c.139C>A (p.Arg47Ser) c.178C>A (p.Arg60Ser) n.845C>A n.965C>A n.524C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.25307999G>A | CA509892661 | ABHD12 | c.834C>T (p.Ile278=) c.288C>T (p.Ile96=) n.345C>T c.*173C>T (n.*173C>T) c.363C>T (p.Ile121=) c.390C>T (p.Ile130=) c.396C>T n.488C>T c.138C>T (p.Ile46=) c.177C>T (p.Ile59=) n.844C>T n.964C>T n.523C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.25307999G>C | CA408455868 | ABHD12 | c.834C>G (p.Ile278Met) c.288C>G (p.Ile96Met) n.345C>G c.*173C>G (n.*173C>G) c.363C>G (p.Ile121Met) c.390C>G (p.Ile130Met) c.396C>G n.488C>G c.138C>G (p.Ile46Met) c.177C>G (p.Ile59Met) n.844C>G n.964C>G n.523C>G | |
| 20 | g.25307999G= | CA2356806472 | ABHD12 | c.834C= (p.Ile278=) c.288C= (p.Ile96=) n.345C= c.*173C= (n.*173C=) c.363C= (p.Ile121=) c.390C= (p.Ile130=) c.396C= n.488C= c.138C= (p.Ile46=) c.177C= (p.Ile59=) n.844C= n.964C= n.523C= | |
| 20 | g.25307999G>T | CA509892660 | ABHD12 | c.834C>A (p.Ile278=) c.288C>A (p.Ile96=) n.345C>A c.*173C>A (n.*173C>A) c.363C>A (p.Ile121=) c.390C>A (p.Ile130=) c.396C>A n.488C>A c.138C>A (p.Ile46=) c.177C>A (p.Ile59=) n.844C>A n.964C>A n.523C>A | gnomAD v4 |
| 20 | g.25308000A>C | CA408455869 | ABHD12 | c.833T>G (p.Ile278Ser) c.287T>G (p.Ile96Ser) n.344T>G c.*172T>G (n.*172T>G) c.362T>G (p.Ile121Ser) c.389T>G (p.Ile130Ser) c.395T>G n.487T>G c.137T>G (p.Ile46Ser) c.176T>G (p.Ile59Ser) n.843T>G n.963T>G n.522T>G | |
| 20 | g.25308000A>G | CA408455870 | ABHD12 | c.833T>C (p.Ile278Thr) c.287T>C (p.Ile96Thr) n.344T>C c.*172T>C (n.*172T>C) c.362T>C (p.Ile121Thr) c.389T>C (p.Ile130Thr) c.395T>C n.487T>C c.137T>C (p.Ile46Thr) c.176T>C (p.Ile59Thr) n.843T>C n.963T>C n.522T>C | |
| 20 | g.25308000A>T | CA408455871 | ABHD12 | c.833T>A (p.Ile278Asn) c.287T>A (p.Ile96Asn) n.344T>A c.*172T>A (n.*172T>A) c.362T>A (p.Ile121Asn) c.389T>A (p.Ile130Asn) c.395T>A n.487T>A c.137T>A (p.Ile46Asn) c.176T>A (p.Ile59Asn) n.843T>A n.963T>A n.522T>A | |
| 20 | g.25308001T>A | CA408455872 | ABHD12 | c.832A>T (p.Ile278Phe) c.286A>T (p.Ile96Phe) n.343A>T c.*171A>T (n.*171A>T) c.361A>T (p.Ile121Phe) c.388A>T (p.Ile130Phe) c.394A>T n.486A>T c.136A>T (p.Ile46Phe) c.175A>T (p.Ile59Phe) n.842A>T n.962A>T n.521A>T | |
| 20 | g.25308001T>C | CA408455873 | ABHD12 | c.832A>G (p.Ile278Val) c.286A>G (p.Ile96Val) n.343A>G c.*171A>G (n.*171A>G) c.361A>G (p.Ile121Val) c.388A>G (p.Ile130Val) c.394A>G n.486A>G c.136A>G (p.Ile46Val) c.175A>G (p.Ile59Val) n.842A>G n.962A>G n.521A>G | |
| 20 | g.25308001T>G | CA408455874 | ABHD12 | c.832A>C (p.Ile278Leu) c.286A>C (p.Ile96Leu) n.343A>C c.*171A>C (n.*171A>C) c.361A>C (p.Ile121Leu) c.388A>C (p.Ile130Leu) c.394A>C n.486A>C c.136A>C (p.Ile46Leu) c.175A>C (p.Ile59Leu) n.842A>C n.962A>C n.521A>C | |
| 20 | g.25308002A>C | CA408455875 | ABHD12 | c.831T>G (p.Asn277Lys) c.285T>G (p.Asn95Lys) n.342T>G c.*170T>G (n.*170T>G) c.360T>G (p.Asn120Lys) c.387T>G (p.Asn129Lys) c.393T>G n.485T>G c.135T>G (p.Asn45Lys) c.174T>G (p.Asn58Lys) n.841T>G n.961T>G n.520T>G | |
| 20 | g.25308002A>G | CA509892662 | ABHD12 | c.831T>C (p.Asn277=) c.285T>C (p.Asn95=) n.342T>C c.*170T>C (n.*170T>C) c.360T>C (p.Asn120=) c.387T>C (p.Asn129=) c.393T>C n.485T>C c.135T>C (p.Asn45=) c.174T>C (p.Asn58=) n.841T>C n.961T>C n.520T>C | |
| 20 | g.25308002A>T | CA408455876 | ABHD12 | c.831T>A (p.Asn277Lys) c.285T>A (p.Asn95Lys) n.342T>A c.*170T>A (n.*170T>A) c.360T>A (p.Asn120Lys) c.387T>A (p.Asn129Lys) c.393T>A n.485T>A c.135T>A (p.Asn45Lys) c.174T>A (p.Asn58Lys) n.841T>A n.961T>A n.520T>A | |
| 20 | g.25308003T>A | CA408455877 | ABHD12 | c.830A>T (p.Asn277Ile) c.284A>T (p.Asn95Ile) n.341A>T c.*169A>T (n.*169A>T) c.359A>T (p.Asn120Ile) c.386A>T (p.Asn129Ile) c.392A>T n.484A>T c.134A>T (p.Asn45Ile) c.173A>T (p.Asn58Ile) n.840A>T n.960A>T n.519A>T | |
| 20 | g.25308003T>C | CA408455878 | ABHD12 | c.830A>G (p.Asn277Ser) c.284A>G (p.Asn95Ser) n.341A>G c.*169A>G (n.*169A>G) c.359A>G (p.Asn120Ser) c.386A>G (p.Asn129Ser) c.392A>G n.484A>G c.134A>G (p.Asn45Ser) c.173A>G (p.Asn58Ser) n.840A>G n.960A>G n.519A>G | ClinVar dbSNP gnomAD v4 |
| 20 | g.25308003T>G | CA408455879 | ABHD12 | c.830A>C (p.Asn277Thr) c.284A>C (p.Asn95Thr) n.341A>C c.*169A>C (n.*169A>C) c.359A>C (p.Asn120Thr) c.386A>C (p.Asn129Thr) c.392A>C n.484A>C c.134A>C (p.Asn45Thr) c.173A>C (p.Asn58Thr) n.840A>C n.960A>C n.519A>C | |
| 20 | g.25308004T>A | CA408455882 | ABHD12 | c.829A>T (p.Asn277Tyr) c.283A>T (p.Asn95Tyr) n.340A>T c.*168A>T (n.*168A>T) c.358A>T (p.Asn120Tyr) c.385A>T (p.Asn129Tyr) c.391A>T n.483A>T c.133A>T (p.Asn45Tyr) c.172A>T (p.Asn58Tyr) n.839A>T n.959A>T n.518A>T | |
| 20 | g.25308004T>C | CA408455880 | ABHD12 | c.829A>G (p.Asn277Asp) c.283A>G (p.Asn95Asp) n.340A>G c.*168A>G (n.*168A>G) c.358A>G (p.Asn120Asp) c.385A>G (p.Asn129Asp) c.391A>G n.483A>G c.133A>G (p.Asn45Asp) c.172A>G (p.Asn58Asp) n.839A>G n.959A>G n.518A>G | gnomAD v4 |
| 20 | g.25308004T>G | CA408455881 | ABHD12 | c.829A>C (p.Asn277His) c.283A>C (p.Asn95His) n.340A>C c.*168A>C (n.*168A>C) c.358A>C (p.Asn120His) c.385A>C (p.Asn129His) c.391A>C n.483A>C c.133A>C (p.Asn45His) c.172A>C (p.Asn58His) n.839A>C n.959A>C n.518A>C | |
| 20 | g.25308005A>C | CA509892663 | ABHD12 | c.828T>G (p.Thr276=) c.282T>G (p.Thr94=) n.339T>G c.*167T>G (n.*167T>G) c.357T>G (p.Thr119=) c.384T>G (p.Thr128=) c.390T>G n.482T>G c.132T>G (p.Thr44=) c.171T>G (p.Thr57=) n.838T>G n.958T>G n.517T>G |