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.133753729_133753734delinsGCT | CA2695236001 | GPC3 | c.*368_*373delinsAGC (n.*368_*373delinsAGC) c.732_737delinsAGC (p.Trp244Ter) c.780_785delinsAGC (p.Trp260Ter) c.618_623delinsAGC (p.Trp206Ter) | |
| X | g.133753734C>A | CA414705868 | GPC3 | c.*368G>T (n.*368G>T) c.732G>T (p.Trp244Cys) c.780G>T (p.Trp260Cys) c.618G>T (p.Trp206Cys) | |
| X | g.133753734C>G | CA414705869 | GPC3 | c.*368G>C (n.*368G>C) c.732G>C (p.Trp244Cys) c.780G>C (p.Trp260Cys) c.618G>C (p.Trp206Cys) | |
| X | g.133753734C>T | CA414705870 | GPC3 | c.*368G>A (n.*368G>A) c.732G>A (p.Trp244Ter) c.780G>A (p.Trp260Ter) c.618G>A (p.Trp206Ter) | |
| X | g.133753735C>A | CA414705871 | GPC3 | c.*367G>T (n.*367G>T) c.731G>T (p.Trp244Leu) c.779G>T (p.Trp260Leu) c.617G>T (p.Trp206Leu) | |
| X | g.133753735C>G | CA414705872 | GPC3 | c.*367G>C (n.*367G>C) c.731G>C (p.Trp244Ser) c.779G>C (p.Trp260Ser) c.617G>C (p.Trp206Ser) | ClinVar COSMIC |
| X | g.133753735C>T | CA414705873 | GPC3 | c.*367G>A (n.*367G>A) c.731G>A (p.Trp244Ter) c.779G>A (p.Trp260Ter) c.617G>A (p.Trp206Ter) | |
| X | g.133753736A>C | CA414705874 | GPC3 | c.*366T>G (n.*366T>G) c.730T>G (p.Trp244Gly) c.778T>G (p.Trp260Gly) c.616T>G (p.Trp206Gly) | |
| X | g.133753736A>G | CA414705875 | GPC3 | c.*366T>C (n.*366T>C) c.730T>C (p.Trp244Arg) c.778T>C (p.Trp260Arg) c.616T>C (p.Trp206Arg) | |
| X | g.133753736A>T | CA414705876 | GPC3 | c.*366T>A (n.*366T>A) c.730T>A (p.Trp244Arg) c.778T>A (p.Trp260Arg) c.616T>A (p.Trp206Arg) | |
| X | g.133753737C>A | CA414705877 | GPC3 | c.*365G>T (n.*365G>T) c.729G>T (p.Met243Ile) c.777G>T (p.Met259Ile) c.615G>T (p.Met205Ile) | |
| X | g.133753737C= | CA2459503277 | GPC3 | c.*365G= (n.*365G=) c.729G= (p.Met243=) c.777G= (p.Met259=) c.615G= (p.Met205=) | |
| X | g.133753737C>G | CA414705878 | GPC3 | c.*365G>C (n.*365G>C) c.729G>C (p.Met243Ile) c.777G>C (p.Met259Ile) c.615G>C (p.Met205Ile) | |
| X | g.133753737C>T | CA10520797 | GPC3 | c.*365G>A (n.*365G>A) c.729G>A (p.Met243Ile) c.777G>A (p.Met259Ile) c.615G>A (p.Met205Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.133753738A>C | CA414705880 | GPC3 | c.*364T>G (n.*364T>G) c.728T>G (p.Met243Arg) c.776T>G (p.Met259Arg) c.614T>G (p.Met205Arg) | |
| X | g.133753738A>G | CA414705881 | GPC3 | c.*364T>C (n.*364T>C) c.728T>C (p.Met243Thr) c.776T>C (p.Met259Thr) c.614T>C (p.Met205Thr) | |
| X | g.133753738A>T | CA414705879 | GPC3 | c.*364T>A (n.*364T>A) c.728T>A (p.Met243Lys) c.776T>A (p.Met259Lys) c.614T>A (p.Met205Lys) | |
| X | g.133753739T>A | CA414705882 | GPC3 | c.*363A>T (n.*363A>T) c.727A>T (p.Met243Leu) c.775A>T (p.Met259Leu) c.613A>T (p.Met205Leu) | |
| X | g.133753739T>C | CA414705883 | GPC3 | c.*363A>G (n.*363A>G) c.727A>G (p.Met243Val) c.775A>G (p.Met259Val) c.613A>G (p.Met205Val) | |
| X | g.133753739T>G | CA414705884 | GPC3 | c.*363A>C (n.*363A>C) c.727A>C (p.Met243Leu) c.775A>C (p.Met259Leu) c.613A>C (p.Met205Leu) | |
| X | g.133753740T>A | CA414705885 | GPC3 | c.*362A>T (n.*362A>T) c.726A>T (p.Arg242Ser) c.774A>T (p.Arg258Ser) c.612A>T (p.Arg204Ser) | |
| X | g.133753740T>C | CA518852840 | GPC3 | c.*362A>G (n.*362A>G) c.726A>G (p.Arg242=) c.774A>G (p.Arg258=) c.612A>G (p.Arg204=) | |
| X | g.133753740T>G | CA414705886 | GPC3 | c.*362A>C (n.*362A>C) c.726A>C (p.Arg242Ser) c.774A>C (p.Arg258Ser) c.612A>C (p.Arg204Ser) | |
| X | g.133753741C>A | CA414705887 | GPC3 | c.*361G>T (n.*361G>T) c.725G>T (p.Arg242Ile) c.773G>T (p.Arg258Ile) c.611G>T (p.Arg204Ile) | |
| X | g.133753741C>G | CA414705888 | GPC3 | c.*361G>C (n.*361G>C) c.725G>C (p.Arg242Thr) c.773G>C (p.Arg258Thr) c.611G>C (p.Arg204Thr) | |
| X | g.133753741C>T | CA414705889 | GPC3 | c.*361G>A (n.*361G>A) c.725G>A (p.Arg242Lys) c.773G>A (p.Arg258Lys) c.611G>A (p.Arg204Lys) | ClinVar |
| X | g.133753742T>A | CA414705890 | GPC3 | c.*360A>T (n.*360A>T) c.724A>T (p.Arg242Ter) c.772A>T (p.Arg258Ter) c.610A>T (p.Arg204Ter) | |
| X | g.133753742T>C | CA414705891 | GPC3 | c.*360A>G (n.*360A>G) c.724A>G (p.Arg242Gly) c.772A>G (p.Arg258Gly) c.610A>G (p.Arg204Gly) | |
| X | g.133753742T>G | CA518852846 | GPC3 | c.*360A>C (n.*360A>C) c.724A>C (p.Arg242=) c.772A>C (p.Arg258=) c.610A>C (p.Arg204=) | |
| X | g.133753743G>A | CA518852848 | GPC3 | c.*359C>T (n.*359C>T) c.723C>T (p.Thr241=) c.771C>T (p.Thr257=) c.609C>T (p.Thr203=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.133753743G>C | CA518852849 | GPC3 | c.*359C>G (n.*359C>G) c.723C>G (p.Thr241=) c.771C>G (p.Thr257=) c.609C>G (p.Thr203=) | |
| X | g.133753743G= | CA2459503278 | GPC3 | c.*359C= (n.*359C=) c.723C= (p.Thr241=) c.771C= (p.Thr257=) c.609C= (p.Thr203=) | |
| X | g.133753743G>T | CA518852850 | GPC3 | c.*359C>A (n.*359C>A) c.723C>A (p.Thr241=) c.771C>A (p.Thr257=) c.609C>A (p.Thr203=) | |
| X | g.133753744G>A | CA414705892 | GPC3 | c.*358C>T (n.*358C>T) c.722C>T (p.Thr241Ile) c.770C>T (p.Thr257Ile) c.608C>T (p.Thr203Ile) | |
| X | g.133753744G>C | CA414705893 | GPC3 | c.*358C>G (n.*358C>G) c.722C>G (p.Thr241Ser) c.770C>G (p.Thr257Ser) c.608C>G (p.Thr203Ser) | |
| X | g.133753744G>T | CA414705894 | GPC3 | c.*358C>A (n.*358C>A) c.722C>A (p.Thr241Asn) c.770C>A (p.Thr257Asn) c.608C>A (p.Thr203Asn) | |
| X | g.133753745T>A | CA414705897 | GPC3 | c.*357A>T (n.*357A>T) c.721A>T (p.Thr241Ser) c.769A>T (p.Thr257Ser) c.607A>T (p.Thr203Ser) | ClinVar |
| X | g.133753745T>C | CA414705896 | GPC3 | c.*357A>G (n.*357A>G) c.721A>G (p.Thr241Ala) c.769A>G (p.Thr257Ala) c.607A>G (p.Thr203Ala) | |
| X | g.133753745T>G | CA414705895 | GPC3 | c.*357A>C (n.*357A>C) c.721A>C (p.Thr241Pro) c.769A>C (p.Thr257Pro) c.607A>C (p.Thr203Pro) | gnomAD v4 |
| X | g.133753746G>A | CA10520798 | GPC3 | c.*356C>T (n.*356C>T) c.720C>T (p.Leu240=) c.768C>T (p.Leu256=) c.606C>T (p.Leu202=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.133753746G>C | CA518852851 | GPC3 | c.*356C>G (n.*356C>G) c.720C>G (p.Leu240=) c.768C>G (p.Leu256=) c.606C>G (p.Leu202=) | |
| X | g.133753746G= | CA2459503279 | GPC3 | c.*356C= (n.*356C=) c.720C= (p.Leu240=) c.768C= (p.Leu256=) c.606C= (p.Leu202=) | |
| X | g.133753746G>T | CA518852852 | GPC3 | c.*356C>A (n.*356C>A) c.720C>A (p.Leu240=) c.768C>A (p.Leu256=) c.606C>A (p.Leu202=) | |
| X | g.133753747del | CA2695236002 | GPC3 | c.*355del (n.*355del) c.719del (p.Leu240ProfsTer13) c.767del (p.Leu256ProfsTer13) c.605del (p.Leu202ProfsTer13) | |
| X | g.133753747A>C | CA414705898 | GPC3 | c.*355T>G (n.*355T>G) c.719T>G (p.Leu240Arg) c.767T>G (p.Leu256Arg) c.605T>G (p.Leu202Arg) | |
| X | g.133753747A>G | CA414705899 | GPC3 | c.*355T>C (n.*355T>C) c.719T>C (p.Leu240Pro) c.767T>C (p.Leu256Pro) c.605T>C (p.Leu202Pro) | |
| X | g.133753747A>T | CA414705900 | GPC3 | c.*355T>A (n.*355T>A) c.719T>A (p.Leu240His) c.767T>A (p.Leu256His) c.605T>A (p.Leu202His) | |
| X | g.133753748G>A | CA414705901 | GPC3 | c.*354C>T (n.*354C>T) c.718C>T (p.Leu240Phe) c.766C>T (p.Leu256Phe) c.604C>T (p.Leu202Phe) | |
| X | g.133753748G>C | CA414705902 | GPC3 | c.*354C>G (n.*354C>G) c.718C>G (p.Leu240Val) c.766C>G (p.Leu256Val) c.604C>G (p.Leu202Val) | |
| X | g.133753748G>T | CA414705903 | GPC3 | c.*354C>A (n.*354C>A) c.718C>A (p.Leu240Ile) c.766C>A (p.Leu256Ile) c.604C>A (p.Leu202Ile) |