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.3673830_3673847dup | CA2815082213 | ADAM33 | c.803_820dup (p.Gln273_Asp274insGlySerArgValThrGln) c.*631+465_*631+482dup (n.*631+465_*631+482dup) c.803_806+14dup c.842_859dup (p.Gln286_Asp287insGlySerArgValThrGln) c.839_856dup (p.Gln285_Asp286insGlySerArgValThrGln) c.800_817dup (p.Gln272_Asp273insGlySerArgValThrGln) c.-238_-221dup (n.-238_-221dup) n.946_963dup n.867_884dup | |
| 20 | g.3673843G>A | CA408107226 | ADAM33 | c.807C>T (p.Ser269=) c.*631+469C>T (n.*631+469C>T) c.806+1C>T (n.806+1C>T) c.846C>T (p.Ser282=) c.843C>T (p.Ser281=) c.804C>T (p.Ser268=) c.-234C>T (n.-234C>T) n.950C>T n.871C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3673843G>C | CA408107227 | ADAM33 | c.807C>G (p.Ser269Arg) c.*631+469C>G (n.*631+469C>G) c.806+1C>G (n.806+1C>G) c.846C>G (p.Ser282Arg) c.843C>G (p.Ser281Arg) c.804C>G (p.Ser268Arg) c.-234C>G (n.-234C>G) n.950C>G n.871C>G | |
| 20 | g.3673843G= | CA2346680061 | ADAM33 | c.807C= (p.Ser269=) c.*631+469C= (n.*631+469C=) c.806+1C= (n.806+1C=) c.846C= (p.Ser282=) c.843C= (p.Ser281=) c.804C= (p.Ser268=) c.-234C= (n.-234C=) n.950C= n.871C= | |
| 20 | g.3673843G>T | CA408107228 | ADAM33 | c.807C>A (p.Ser269Arg) c.*631+469C>A (n.*631+469C>A) c.806+1C>A (n.806+1C>A) c.846C>A (p.Ser282Arg) c.843C>A (p.Ser281Arg) c.804C>A (p.Ser268Arg) c.-234C>A (n.-234C>A) n.950C>A n.871C>A | gnomAD v4 |
| 20 | g.3673844C>A | CA408107229 | ADAM33 | c.806G>T (p.Ser269Ile) c.*631+468G>T (n.*631+468G>T) c.845G>T (p.Ser282Ile) c.842G>T (p.Ser281Ile) c.803G>T (p.Ser268Ile) c.-235G>T (n.-235G>T) n.949G>T n.870G>T | gnomAD v4 |
| 20 | g.3673844C>G | CA408107231 | ADAM33 | c.806G>C (p.Ser269Thr) c.*631+468G>C (n.*631+468G>C) c.845G>C (p.Ser282Thr) c.842G>C (p.Ser281Thr) c.803G>C (p.Ser268Thr) c.-235G>C (n.-235G>C) n.949G>C n.870G>C | |
| 20 | g.3673844C>T | CA408107230 | ADAM33 | c.806G>A (p.Ser269Asn) c.*631+468G>A (n.*631+468G>A) c.845G>A (p.Ser282Asn) c.842G>A (p.Ser281Asn) c.803G>A (p.Ser268Asn) c.-235G>A (n.-235G>A) n.949G>A n.870G>A | gnomAD v4 |
| 20 | g.3673845T>A | CA408107232 | ADAM33 | c.805A>T (p.Ser269Cys) c.*631+467A>T (n.*631+467A>T) c.844A>T (p.Ser282Cys) c.841A>T (p.Ser281Cys) c.802A>T (p.Ser268Cys) c.-236A>T (n.-236A>T) n.948A>T n.869A>T | gnomAD v4 |
| 20 | g.3673845T>C | CA408107233 | ADAM33 | c.805A>G (p.Ser269Gly) c.*631+467A>G (n.*631+467A>G) c.844A>G (p.Ser282Gly) c.841A>G (p.Ser281Gly) c.802A>G (p.Ser268Gly) c.-236A>G (n.-236A>G) n.948A>G n.869A>G | gnomAD v4 |
| 20 | g.3673845T>G | CA408107234 | ADAM33 | c.805A>C (p.Ser269Arg) c.*631+467A>C (n.*631+467A>C) c.844A>C (p.Ser282Arg) c.841A>C (p.Ser281Arg) c.802A>C (p.Ser268Arg) c.-236A>C (n.-236A>C) n.948A>C n.869A>C | |
| 20 | g.3673846G>A | CA509560397 | ADAM33 | c.804C>T (p.Arg268=) c.*631+466C>T (n.*631+466C>T) c.843C>T (p.Arg281=) c.840C>T (p.Arg280=) c.801C>T (p.Arg267=) c.-237C>T (n.-237C>T) n.947C>T n.868C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3673846G>C | CA509560398 | ADAM33 | c.804C>G (p.Arg268=) c.*631+466C>G (n.*631+466C>G) c.843C>G (p.Arg281=) c.840C>G (p.Arg280=) c.801C>G (p.Arg267=) c.-237C>G (n.-237C>G) n.947C>G n.868C>G | |
| 20 | g.3673846G= | CA2346680062 | ADAM33 | c.804C= (p.Arg268=) c.*631+466C= (n.*631+466C=) c.843C= (p.Arg281=) c.840C= (p.Arg280=) c.801C= (p.Arg267=) c.-237C= (n.-237C=) n.947C= n.868C= | |
| 20 | g.3673846G>T | CA509560399 | ADAM33 | c.804C>A (p.Arg268=) c.*631+466C>A (n.*631+466C>A) c.843C>A (p.Arg281=) c.840C>A (p.Arg280=) c.801C>A (p.Arg267=) c.-237C>A (n.-237C>A) n.947C>A n.868C>A | gnomAD v4 |
| 20 | g.3673847C>A | CA408107235 | ADAM33 | c.803G>T (p.Arg268Leu) c.*631+465G>T (n.*631+465G>T) c.842G>T (p.Arg281Leu) c.839G>T (p.Arg280Leu) c.800G>T (p.Arg267Leu) c.-238G>T (n.-238G>T) n.946G>T n.867G>T | gnomAD v4 |
| 20 | g.3673847C= | CA2346680063 | ADAM33 | c.803G= (p.Arg268=) c.*631+465G= (n.*631+465G=) c.842G= (p.Arg281=) c.839G= (p.Arg280=) c.800G= (p.Arg267=) c.-238G= (n.-238G=) n.946G= n.867G= | |
| 20 | g.3673847C>G | CA408107236 | ADAM33 | c.803G>C (p.Arg268Pro) c.*631+465G>C (n.*631+465G>C) c.842G>C (p.Arg281Pro) c.839G>C (p.Arg280Pro) c.800G>C (p.Arg267Pro) c.-238G>C (n.-238G>C) n.946G>C n.867G>C | |
| 20 | g.3673847C>T | CA311000690 | ADAM33 | c.803G>A (p.Arg268His) c.*631+465G>A (n.*631+465G>A) c.842G>A (p.Arg281His) c.839G>A (p.Arg280His) c.800G>A (p.Arg267His) c.-238G>A (n.-238G>A) n.946G>A n.867G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3673848G>A | CA408107237 | ADAM33 | c.802C>T (p.Arg268Cys) c.*631+464C>T (n.*631+464C>T) c.841C>T (p.Arg281Cys) c.838C>T (p.Arg280Cys) c.799C>T (p.Arg267Cys) c.-239C>T (n.-239C>T) n.945C>T n.866C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3673848G>C | CA408107238 | ADAM33 | c.802C>G (p.Arg268Gly) c.*631+464C>G (n.*631+464C>G) c.841C>G (p.Arg281Gly) c.838C>G (p.Arg280Gly) c.799C>G (p.Arg267Gly) c.-239C>G (n.-239C>G) n.945C>G n.866C>G | |
| 20 | g.3673848G= | CA2346680064 | ADAM33 | c.802C= (p.Arg268=) c.*631+464C= (n.*631+464C=) c.841C= (p.Arg281=) c.838C= (p.Arg280=) c.799C= (p.Arg267=) c.-239C= (n.-239C=) n.945C= n.866C= | |
| 20 | g.3673848G>T | CA408107239 | ADAM33 | c.802C>A (p.Arg268Ser) c.*631+464C>A (n.*631+464C>A) c.841C>A (p.Arg281Ser) c.838C>A (p.Arg280Ser) c.799C>A (p.Arg267Ser) c.-239C>A (n.-239C>A) n.945C>A n.866C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3673849G>A | CA509560400 | ADAM33 | c.801C>T (p.Asp267=) c.*631+463C>T (n.*631+463C>T) c.840C>T (p.Asp280=) c.837C>T (p.Asp279=) c.798C>T (p.Asp266=) c.-240C>T (n.-240C>T) n.944C>T n.865C>T | gnomAD v4 |
| 20 | g.3673849G>C | CA408107241 | ADAM33 | c.801C>G (p.Asp267Glu) c.*631+463C>G (n.*631+463C>G) c.840C>G (p.Asp280Glu) c.837C>G (p.Asp279Glu) c.798C>G (p.Asp266Glu) c.-240C>G (n.-240C>G) n.944C>G n.865C>G | |
| 20 | g.3673849G>T | CA408107240 | ADAM33 | c.801C>A (p.Asp267Glu) c.*631+463C>A (n.*631+463C>A) c.840C>A (p.Asp280Glu) c.837C>A (p.Asp279Glu) c.798C>A (p.Asp266Glu) c.-240C>A (n.-240C>A) n.944C>A n.865C>A | gnomAD v4 |
| 20 | g.3673850T>A | CA408107242 | ADAM33 | c.800A>T (p.Asp267Val) c.*631+462A>T (n.*631+462A>T) c.839A>T (p.Asp280Val) c.836A>T (p.Asp279Val) c.797A>T (p.Asp266Val) c.-241A>T (n.-241A>T) n.943A>T n.864A>T | dbSNP gnomAD v4 |
| 20 | g.3673850T>C | CA408107243 | ADAM33 | c.800A>G (p.Asp267Gly) c.*631+462A>G (n.*631+462A>G) c.839A>G (p.Asp280Gly) c.836A>G (p.Asp279Gly) c.797A>G (p.Asp266Gly) c.-241A>G (n.-241A>G) n.943A>G n.864A>G | gnomAD v4 |
| 20 | g.3673850T>G | CA408107244 | ADAM33 | c.800A>C (p.Asp267Ala) c.*631+462A>C (n.*631+462A>C) c.839A>C (p.Asp280Ala) c.836A>C (p.Asp279Ala) c.797A>C (p.Asp266Ala) c.-241A>C (n.-241A>C) n.943A>C n.864A>C | gnomAD v4 |
| 20 | g.3673851C>A | CA408107245 | ADAM33 | c.799G>T (p.Asp267Tyr) c.*631+461G>T (n.*631+461G>T) c.838G>T (p.Asp280Tyr) c.835G>T (p.Asp279Tyr) c.796G>T (p.Asp266Tyr) c.-242G>T (n.-242G>T) n.942G>T n.863G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3673851C= | CA2346680065 | ADAM33 | c.799G= (p.Asp267=) c.*631+461G= (n.*631+461G=) c.838G= (p.Asp280=) c.835G= (p.Asp279=) c.796G= (p.Asp266=) c.-242G= (n.-242G=) n.942G= n.863G= | |
| 20 | g.3673851C>G | CA408107246 | ADAM33 | c.799G>C (p.Asp267His) c.*631+461G>C (n.*631+461G>C) c.838G>C (p.Asp280His) c.835G>C (p.Asp279His) c.796G>C (p.Asp266His) c.-242G>C (n.-242G>C) n.942G>C n.863G>C | |
| 20 | g.3673851C>T | CA408107247 | ADAM33 | c.799G>A (p.Asp267Asn) c.*631+461G>A (n.*631+461G>A) c.838G>A (p.Asp280Asn) c.835G>A (p.Asp279Asn) c.796G>A (p.Asp266Asn) c.-242G>A (n.-242G>A) n.942G>A n.863G>A | gnomAD v4 |
| 20 | g.3673853del | CA2651730776 | ADAM33 | c.799del (p.Asp267ThrfsTer?) c.*631+461del (n.*631+461del) c.838del (p.Asp280ThrfsTer?) c.835del (p.Asp279ThrfsTer?) c.796del (p.Asp266ThrfsTer?) c.-242del (n.-242del) n.942del n.863del | gnomAD v4 |
| 20 | g.3673852C>A | CA509560401 | ADAM33 | c.798G>T (p.Arg266=) c.*631+460G>T (n.*631+460G>T) c.837G>T (p.Arg279=) c.834G>T (p.Arg278=) c.795G>T (p.Arg265=) c.-243G>T (n.-243G>T) n.941G>T n.862G>T | gnomAD v4 |
| 20 | g.3673852C>G | CA509560402 | ADAM33 | c.798G>C (p.Arg266=) c.*631+460G>C (n.*631+460G>C) c.837G>C (p.Arg279=) c.834G>C (p.Arg278=) c.795G>C (p.Arg265=) c.-243G>C (n.-243G>C) n.941G>C n.862G>C | |
| 20 | g.3673852C>T | CA509560403 | ADAM33 | c.798G>A (p.Arg266=) c.*631+460G>A (n.*631+460G>A) c.837G>A (p.Arg279=) c.834G>A (p.Arg278=) c.795G>A (p.Arg265=) c.-243G>A (n.-243G>A) n.941G>A n.862G>A | gnomAD v4 |
| 20 | g.3673853C>A | CA408107250 | ADAM33 | c.797G>T (p.Arg266Leu) c.*631+459G>T (n.*631+459G>T) c.836G>T (p.Arg279Leu) c.833G>T (p.Arg278Leu) c.794G>T (p.Arg265Leu) c.-244G>T (n.-244G>T) n.940G>T n.861G>T | gnomAD v4 |
| 20 | g.3673853C= | CA2346680066 | ADAM33 | c.797G= (p.Arg266=) c.*631+459G= (n.*631+459G=) c.836G= (p.Arg279=) c.833G= (p.Arg278=) c.794G= (p.Arg265=) c.-244G= (n.-244G=) n.940G= n.861G= | |
| 20 | g.3673853C>G | CA408107248 | ADAM33 | c.797G>C (p.Arg266Pro) c.*631+459G>C (n.*631+459G>C) c.836G>C (p.Arg279Pro) c.833G>C (p.Arg278Pro) c.794G>C (p.Arg265Pro) c.-244G>C (n.-244G>C) n.940G>C n.861G>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.3673853C>T | CA408107249 | ADAM33 | c.797G>A (p.Arg266Gln) c.*631+459G>A (n.*631+459G>A) c.836G>A (p.Arg279Gln) c.833G>A (p.Arg278Gln) c.794G>A (p.Arg265Gln) c.-244G>A (n.-244G>A) n.940G>A n.861G>A | gnomAD v4 |
| 20 | g.3673854G>A | CA9745557 | ADAM33 | c.796C>T (p.Arg266Trp) c.*631+458C>T (n.*631+458C>T) c.835C>T (p.Arg279Trp) c.832C>T (p.Arg278Trp) c.793C>T (p.Arg265Trp) c.-245C>T (n.-245C>T) n.939C>T n.860C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3673854G>C | CA408107251 | ADAM33 | c.796C>G (p.Arg266Gly) c.*631+458C>G (n.*631+458C>G) c.835C>G (p.Arg279Gly) c.832C>G (p.Arg278Gly) c.793C>G (p.Arg265Gly) c.-245C>G (n.-245C>G) n.939C>G n.860C>G | gnomAD v4 |
| 20 | g.3673854G= | CA2346680067 | ADAM33 | c.796C= (p.Arg266=) c.*631+458C= (n.*631+458C=) c.835C= (p.Arg279=) c.832C= (p.Arg278=) c.793C= (p.Arg265=) c.-245C= (n.-245C=) n.939C= n.860C= | |
| 20 | g.3673854G>T | CA509560404 | ADAM33 | c.796C>A (p.Arg266=) c.*631+458C>A (n.*631+458C>A) c.835C>A (p.Arg279=) c.832C>A (p.Arg278=) c.793C>A (p.Arg265=) c.-245C>A (n.-245C>A) n.939C>A n.860C>A | dbSNP gnomAD v4 |
| 20 | g.3673855C>A | CA408107252 | ADAM33 | c.795G>T (p.Glu265Asp) c.*631+457G>T (n.*631+457G>T) c.834G>T (p.Glu278Asp) c.831G>T (p.Glu277Asp) c.792G>T (p.Glu264Asp) c.-246G>T (n.-246G>T) n.938G>T n.859G>T | dbSNP gnomAD v4 |
| 20 | g.3673855C= | CA2346680068 | ADAM33 | c.795G= (p.Glu265=) c.*631+457G= (n.*631+457G=) c.834G= (p.Glu278=) c.831G= (p.Glu277=) c.792G= (p.Glu264=) c.-246G= (n.-246G=) n.938G= n.859G= | |
| 20 | g.3673855C>G | CA408107253 | ADAM33 | c.795G>C (p.Glu265Asp) c.*631+457G>C (n.*631+457G>C) c.834G>C (p.Glu278Asp) c.831G>C (p.Glu277Asp) c.792G>C (p.Glu264Asp) c.-246G>C (n.-246G>C) n.938G>C n.859G>C | |
| 20 | g.3673855C>T | CA9745558 | ADAM33 | c.795G>A (p.Glu265=) c.*631+457G>A (n.*631+457G>A) c.834G>A (p.Glu278=) c.831G>A (p.Glu277=) c.792G>A (p.Glu264=) c.-246G>A (n.-246G>A) n.938G>A n.859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3673856T>A | CA408107254 | ADAM33 | c.794A>T (p.Glu265Val) c.*631+456A>T (n.*631+456A>T) c.833A>T (p.Glu278Val) c.830A>T (p.Glu277Val) c.791A>T (p.Glu264Val) c.-247A>T (n.-247A>T) n.937A>T n.858A>T | dbSNP gnomAD v4 |