WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.133753825A>C | CA414706074 | GPC3 | c.*277T>G (n.*277T>G) c.641T>G (p.Leu214Arg) c.689T>G (p.Leu230Arg) c.527T>G (p.Leu176Arg) | COSMIC COSMIC |
| X | g.133753825A>G | CA414706075 | GPC3 | c.*277T>C (n.*277T>C) c.641T>C (p.Leu214Pro) c.689T>C (p.Leu230Pro) c.527T>C (p.Leu176Pro) | |
| X | g.133753825A>T | CA414706076 | GPC3 | c.*277T>A (n.*277T>A) c.641T>A (p.Leu214His) c.689T>A (p.Leu230His) c.527T>A (p.Leu176His) | |
| X | g.133753826G>A | CA414706079 | GPC3 | c.*276C>T (n.*276C>T) c.640C>T (p.Leu214Phe) c.688C>T (p.Leu230Phe) c.526C>T (p.Leu176Phe) | |
| X | g.133753826G>C | CA414706078 | GPC3 | c.*276C>G (n.*276C>G) c.640C>G (p.Leu214Val) c.688C>G (p.Leu230Val) c.526C>G (p.Leu176Val) | |
| X | g.133753826G>T | CA414706077 | GPC3 | c.*276C>A (n.*276C>A) c.640C>A (p.Leu214Ile) c.688C>A (p.Leu230Ile) c.526C>A (p.Leu176Ile) | |
| X | g.133753826_133753840delinsT | CA2695236005 | GPC3 | c.*262_*276delinsA (n.*262_*276delinsA) c.626_640delinsA (p.Val209AspfsTer9) c.674_688delinsA (p.Val225AspfsTer9) c.512_526delinsA (p.Val171AspfsTer9) | |
| X | g.133753827G>A | CA518852603 | GPC3 | c.*275C>T (n.*275C>T) c.639C>T (p.Phe213=) c.687C>T (p.Phe229=) c.525C>T (p.Phe175=) | ClinVar dbSNP gnomAD v4 |
| X | g.133753827G>C | CA414706080 | GPC3 | c.*275C>G (n.*275C>G) c.639C>G (p.Phe213Leu) c.687C>G (p.Phe229Leu) c.525C>G (p.Phe175Leu) | |
| X | g.133753827G>T | CA414706081 | GPC3 | c.*275C>A (n.*275C>A) c.639C>A (p.Phe213Leu) c.687C>A (p.Phe229Leu) c.525C>A (p.Phe175Leu) | |
| X | g.133753828A>C | CA414706082 | GPC3 | c.*274T>G (n.*274T>G) c.638T>G (p.Phe213Cys) c.686T>G (p.Phe229Cys) c.524T>G (p.Phe175Cys) | |
| X | g.133753828A>G | CA414706083 | GPC3 | c.*274T>C (n.*274T>C) c.638T>C (p.Phe213Ser) c.686T>C (p.Phe229Ser) c.524T>C (p.Phe175Ser) | |
| X | g.133753828A>T | CA414706084 | GPC3 | c.*274T>A (n.*274T>A) c.638T>A (p.Phe213Tyr) c.686T>A (p.Phe229Tyr) c.524T>A (p.Phe175Tyr) | |
| X | g.133753829A>C | CA414706085 | GPC3 | c.*273T>G (n.*273T>G) c.637T>G (p.Phe213Val) c.685T>G (p.Phe229Val) c.523T>G (p.Phe175Val) | |
| X | g.133753829A>G | CA414706086 | GPC3 | c.*273T>C (n.*273T>C) c.637T>C (p.Phe213Leu) c.685T>C (p.Phe229Leu) c.523T>C (p.Phe175Leu) | |
| X | g.133753829A>T | CA414706087 | GPC3 | c.*273T>A (n.*273T>A) c.637T>A (p.Phe213Ile) c.685T>A (p.Phe229Ile) c.523T>A (p.Phe175Ile) | |
| X | g.133753830G>A | CA518852604 | GPC3 | c.*272C>T (n.*272C>T) c.636C>T (p.Ile212=) c.684C>T (p.Ile228=) c.522C>T (p.Ile174=) | |
| X | g.133753830G>C | CA414706088 | GPC3 | c.*272C>G (n.*272C>G) c.636C>G (p.Ile212Met) c.684C>G (p.Ile228Met) c.522C>G (p.Ile174Met) | |
| X | g.133753830G>T | CA518852605 | GPC3 | c.*272C>A (n.*272C>A) c.636C>A (p.Ile212=) c.684C>A (p.Ile228=) c.522C>A (p.Ile174=) | |
| X | g.133753831A>C | CA414706089 | GPC3 | c.*271T>G (n.*271T>G) c.635T>G (p.Ile212Ser) c.683T>G (p.Ile228Ser) c.521T>G (p.Ile174Ser) | |
| X | g.133753831A>G | CA414706090 | GPC3 | c.*271T>C (n.*271T>C) c.635T>C (p.Ile212Thr) c.683T>C (p.Ile228Thr) c.521T>C (p.Ile174Thr) | |
| X | g.133753831A>T | CA414706091 | GPC3 | c.*271T>A (n.*271T>A) c.635T>A (p.Ile212Asn) c.683T>A (p.Ile228Asn) c.521T>A (p.Ile174Asn) | |
| X | g.133753832T>A | CA414706093 | GPC3 | c.*270A>T (n.*270A>T) c.634A>T (p.Ile212Phe) c.682A>T (p.Ile228Phe) c.520A>T (p.Ile174Phe) | ClinVar dbSNP |
| X | g.133753832T>C | CA414706092 | GPC3 | c.*270A>G (n.*270A>G) c.634A>G (p.Ile212Val) c.682A>G (p.Ile228Val) c.520A>G (p.Ile174Val) | ClinVar |
| X | g.133753832T>G | CA10520807 | GPC3 | c.*270A>C (n.*270A>C) c.634A>C (p.Ile212Leu) c.682A>C (p.Ile228Leu) c.520A>C (p.Ile174Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.133753832T= | CA2459503301 | GPC3 | c.*270A= (n.*270A=) c.634A= (p.Ile212=) c.682A= (p.Ile228=) c.520A= (p.Ile174=) | |
| X | g.133753833C>A | CA414706094 | GPC3 | c.*269G>T (n.*269G>T) c.633G>T (p.Arg211Ser) c.681G>T (p.Arg227Ser) c.519G>T (p.Arg173Ser) | |
| X | g.133753833C>G | CA414706095 | GPC3 | c.*269G>C (n.*269G>C) c.633G>C (p.Arg211Ser) c.681G>C (p.Arg227Ser) c.519G>C (p.Arg173Ser) | |
| X | g.133753833C>T | CA518852606 | GPC3 | c.*269G>A (n.*269G>A) c.633G>A (p.Arg211=) c.681G>A (p.Arg227=) c.519G>A (p.Arg173=) | gnomAD v4 |
| X | g.133753834C>A | CA414706096 | GPC3 | c.*268G>T (n.*268G>T) c.632G>T (p.Arg211Met) c.680G>T (p.Arg227Met) c.518G>T (p.Arg173Met) | |
| X | g.133753834C>G | CA414706097 | GPC3 | c.*268G>C (n.*268G>C) c.632G>C (p.Arg211Thr) c.680G>C (p.Arg227Thr) c.518G>C (p.Arg173Thr) | |
| X | g.133753834C>T | CA414706098 | GPC3 | c.*268G>A (n.*268G>A) c.632G>A (p.Arg211Lys) c.680G>A (p.Arg227Lys) c.518G>A (p.Arg173Lys) | |
| X | g.133753835T>A | CA414706099 | GPC3 | c.*267A>T (n.*267A>T) c.631A>T (p.Arg211Trp) c.679A>T (p.Arg227Trp) c.517A>T (p.Arg173Trp) | |
| X | g.133753835T>C | CA414706100 | GPC3 | c.*267A>G (n.*267A>G) c.631A>G (p.Arg211Gly) c.679A>G (p.Arg227Gly) c.517A>G (p.Arg173Gly) | gnomAD v4 |
| X | g.133753835T>G | CA518852607 | GPC3 | c.*267A>C (n.*267A>C) c.631A>C (p.Arg211=) c.679A>C (p.Arg227=) c.517A>C (p.Arg173=) | |
| X | g.133753836A>C | CA518852608 | GPC3 | c.*266T>G (n.*266T>G) c.630T>G (p.Thr210=) c.678T>G (p.Thr226=) c.516T>G (p.Thr172=) | |
| X | g.133753836A>G | CA518852609 | GPC3 | c.*266T>C (n.*266T>C) c.630T>C (p.Thr210=) c.678T>C (p.Thr226=) c.516T>C (p.Thr172=) | gnomAD v4 |
| X | g.133753836A>T | CA518852610 | GPC3 | c.*266T>A (n.*266T>A) c.630T>A (p.Thr210=) c.678T>A (p.Thr226=) c.516T>A (p.Thr172=) | |
| X | g.133753837del | CA2695236006 | GPC3 | c.*265del (n.*265del) c.629del (p.Thr210IlefsTer8) c.677del (p.Thr226IlefsTer8) c.515del (p.Thr172IlefsTer8) | |
| X | g.133753837G>A | CA414706101 | GPC3 | c.*265C>T (n.*265C>T) c.629C>T (p.Thr210Ile) c.677C>T (p.Thr226Ile) c.515C>T (p.Thr172Ile) | dbSNP |
| X | g.133753837G>C | CA414706102 | GPC3 | c.*265C>G (n.*265C>G) c.629C>G (p.Thr210Ser) c.677C>G (p.Thr226Ser) c.515C>G (p.Thr172Ser) | |
| X | g.133753837G>T | CA414706103 | GPC3 | c.*265C>A (n.*265C>A) c.629C>A (p.Thr210Asn) c.677C>A (p.Thr226Asn) c.515C>A (p.Thr172Asn) | |
| X | g.133753838T>A | CA414706104 | GPC3 | c.*264A>T (n.*264A>T) c.628A>T (p.Thr210Ser) c.676A>T (p.Thr226Ser) c.514A>T (p.Thr172Ser) | |
| X | g.133753838T>C | CA10520808 | GPC3 | c.*264A>G (n.*264A>G) c.628A>G (p.Thr210Ala) c.676A>G (p.Thr226Ala) c.514A>G (p.Thr172Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.133753838T>G | CA414706105 | GPC3 | c.*264A>C (n.*264A>C) c.628A>C (p.Thr210Pro) c.676A>C (p.Thr226Pro) c.514A>C (p.Thr172Pro) | |
| X | g.133753838T= | CA2459503302 | GPC3 | c.*264A= (n.*264A=) c.628A= (p.Thr210=) c.676A= (p.Thr226=) c.514A= (p.Thr172=) | |
| X | g.133753839G>A | CA518852611 | GPC3 | c.*263C>T (n.*263C>T) c.627C>T (p.Val209=) c.675C>T (p.Val225=) c.513C>T (p.Val171=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.133753839G>C | CA518852612 | GPC3 | c.*263C>G (n.*263C>G) c.627C>G (p.Val209=) c.675C>G (p.Val225=) c.513C>G (p.Val171=) | |
| X | g.133753839G= | CA2459503303 | GPC3 | c.*263C= (n.*263C=) c.627C= (p.Val209=) c.675C= (p.Val225=) c.513C= (p.Val171=) | |
| X | g.133753839G>T | CA518852613 | GPC3 | c.*263C>A (n.*263C>A) c.627C>A (p.Val209=) c.675C>A (p.Val225=) c.513C>A (p.Val171=) | COSMIC COSMIC |