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 |
|---|---|---|---|---|---|
| X | g.133754054_133754057dup | CA2459503377 | GPC3 | c.*48_*51dup (n.*48_*51dup) c.412_415dup (p.Tyr139SerfsTer7) n.590_593dup c.460_463dup (p.Tyr155SerfsTer7) c.298_301dup (p.Tyr101SerfsTer7) | ClinVar dbSNP |
| X | g.133754053A>C | CA414706578 | GPC3 | c.*49T>G (n.*49T>G) c.413T>G (p.Leu138Arg) n.591T>G c.461T>G (p.Leu154Arg) c.299T>G (p.Leu100Arg) | |
| X | g.133754053A>G | CA414706579 | GPC3 | c.*49T>C (n.*49T>C) c.413T>C (p.Leu138Pro) n.591T>C c.461T>C (p.Leu154Pro) c.299T>C (p.Leu100Pro) | |
| X | g.133754053A>T | CA414706580 | GPC3 | c.*49T>A (n.*49T>A) c.413T>A (p.Leu138His) n.591T>A c.461T>A (p.Leu154His) c.299T>A (p.Leu100His) | |
| X | g.133754054G>A | CA414706581 | GPC3 | c.*48C>T (n.*48C>T) c.412C>T (p.Leu138Phe) n.590C>T c.460C>T (p.Leu154Phe) c.298C>T (p.Leu100Phe) | |
| X | g.133754054G>C | CA414706582 | GPC3 | c.*48C>G (n.*48C>G) c.412C>G (p.Leu138Val) n.590C>G c.460C>G (p.Leu154Val) c.298C>G (p.Leu100Val) | ClinVar gnomAD v4 |
| X | g.133754054G>T | CA414706583 | GPC3 | c.*48C>A (n.*48C>A) c.412C>A (p.Leu138Ile) n.590C>A c.460C>A (p.Leu154Ile) c.298C>A (p.Leu100Ile) | |
| X | g.133754055A= | CA2459503378 | GPC3 | c.*47T= (n.*47T=) c.411T= (p.Ser137=) n.589T= c.459T= (p.Ser153=) c.297T= (p.Ser99=) | |
| X | g.133754055A>C | CA10520830 | GPC3 | c.*47T>G (n.*47T>G) c.411T>G (p.Ser137=) n.589T>G c.459T>G (p.Ser153=) c.297T>G (p.Ser99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.133754055A>G | CA518852837 | GPC3 | c.*47T>C (n.*47T>C) c.411T>C (p.Ser137=) n.589T>C c.459T>C (p.Ser153=) c.297T>C (p.Ser99=) | |
| X | g.133754055A>T | CA518852836 | GPC3 | c.*47T>A (n.*47T>A) c.411T>A (p.Ser137=) n.589T>A c.459T>A (p.Ser153=) c.297T>A (p.Ser99=) | |
| X | g.133754056G>A | CA414706584 | GPC3 | c.*46C>T (n.*46C>T) c.410C>T (p.Ser137Phe) n.588C>T c.458C>T (p.Ser153Phe) c.296C>T (p.Ser99Phe) | ClinVar dbSNP |
| X | g.133754056G>C | CA414706585 | GPC3 | c.*46C>G (n.*46C>G) c.410C>G (p.Ser137Cys) n.588C>G c.458C>G (p.Ser153Cys) c.296C>G (p.Ser99Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.133754056G= | CA2459503379 | GPC3 | c.*46C= (n.*46C=) c.410C= (p.Ser137=) n.588C= c.458C= (p.Ser153=) c.296C= (p.Ser99=) | |
| X | g.133754056G>T | CA414706586 | GPC3 | c.*46C>A (n.*46C>A) c.410C>A (p.Ser137Tyr) n.588C>A c.458C>A (p.Ser153Tyr) c.296C>A (p.Ser99Tyr) | |
| X | g.133754057A>C | CA414706589 | GPC3 | c.*45T>G (n.*45T>G) c.409T>G (p.Ser137Ala) n.587T>G c.457T>G (p.Ser153Ala) c.295T>G (p.Ser99Ala) | |
| X | g.133754057A>G | CA414706588 | GPC3 | c.*45T>C (n.*45T>C) c.409T>C (p.Ser137Pro) n.587T>C c.457T>C (p.Ser153Pro) c.295T>C (p.Ser99Pro) | |
| X | g.133754057A>T | CA414706587 | GPC3 | c.*45T>A (n.*45T>A) c.409T>A (p.Ser137Thr) n.587T>A c.457T>A (p.Ser153Thr) c.295T>A (p.Ser99Thr) | |
| X | g.133754058C>A | CA518852843 | GPC3 | c.*44G>T (n.*44G>T) c.408G>T (p.Val136=) n.586G>T c.456G>T (p.Val152=) c.294G>T (p.Val98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.133754058C= | CA2459503380 | GPC3 | c.*44G= (n.*44G=) c.408G= (p.Val136=) n.586G= c.456G= (p.Val152=) c.294G= (p.Val98=) | |
| X | g.133754058C>G | CA518852844 | GPC3 | c.*44G>C (n.*44G>C) c.408G>C (p.Val136=) n.586G>C c.456G>C (p.Val152=) c.294G>C (p.Val98=) | |
| X | g.133754058C>T | CA518852845 | GPC3 | c.*44G>A (n.*44G>A) c.408G>A (p.Val136=) n.586G>A c.456G>A (p.Val152=) c.294G>A (p.Val98=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.133754059A>C | CA414706590 | GPC3 | c.*43T>G (n.*43T>G) c.407T>G (p.Val136Gly) n.585T>G c.455T>G (p.Val152Gly) c.293T>G (p.Val98Gly) | |
| X | g.133754059A>G | CA414706591 | GPC3 | c.*43T>C (n.*43T>C) c.407T>C (p.Val136Ala) n.585T>C c.455T>C (p.Val152Ala) c.293T>C (p.Val98Ala) | ClinVar |
| X | g.133754059A>T | CA414706592 | GPC3 | c.*43T>A (n.*43T>A) c.407T>A (p.Val136Glu) n.585T>A c.455T>A (p.Val152Glu) c.293T>A (p.Val98Glu) | |
| X | g.133754060C>A | CA414706593 | GPC3 | c.*42G>T (n.*42G>T) c.406G>T (p.Val136Leu) n.584G>T c.454G>T (p.Val152Leu) c.292G>T (p.Val98Leu) | |
| X | g.133754060C>G | CA414706594 | GPC3 | c.*42G>C (n.*42G>C) c.406G>C (p.Val136Leu) n.584G>C c.454G>C (p.Val152Leu) c.292G>C (p.Val98Leu) | |
| X | g.133754060C>T | CA414706595 | GPC3 | c.*42G>A (n.*42G>A) c.406G>A (p.Val136Met) n.584G>A c.454G>A (p.Val152Met) c.292G>A (p.Val98Met) | |
| X | g.133754061A>C | CA414706596 | GPC3 | c.*41T>G (n.*41T>G) c.405T>G (p.Asp135Glu) n.583T>G c.453T>G (p.Asp151Glu) c.291T>G (p.Asp97Glu) | |
| X | g.133754061A>G | CA518852847 | GPC3 | c.*41T>C (n.*41T>C) c.405T>C (p.Asp135=) n.583T>C c.453T>C (p.Asp151=) c.291T>C (p.Asp97=) | |
| X | g.133754061A>T | CA414706597 | GPC3 | c.*41T>A (n.*41T>A) c.405T>A (p.Asp135Glu) n.583T>A c.453T>A (p.Asp151Glu) c.291T>A (p.Asp97Glu) | |
| X | g.133754062T>A | CA414706598 | GPC3 | c.*40A>T (n.*40A>T) c.404A>T (p.Asp135Val) n.582A>T c.452A>T (p.Asp151Val) c.290A>T (p.Asp97Val) | |
| X | g.133754062T>C | CA414706599 | GPC3 | c.*40A>G (n.*40A>G) c.404A>G (p.Asp135Gly) n.582A>G c.452A>G (p.Asp151Gly) c.290A>G (p.Asp97Gly) | ClinVar dbSNP |
| X | g.133754062T>G | CA414706600 | GPC3 | c.*40A>C (n.*40A>C) c.404A>C (p.Asp135Ala) n.582A>C c.452A>C (p.Asp151Ala) c.290A>C (p.Asp97Ala) | |
| X | g.133754062T= | CA2459503381 | GPC3 | c.*40A= (n.*40A=) c.404A= (p.Asp135=) n.582A= c.452A= (p.Asp151=) c.290A= (p.Asp97=) | |
| X | g.133754063C>A | CA414706601 | GPC3 | c.*39G>T (n.*39G>T) c.403G>T (p.Asp135Tyr) n.581G>T c.451G>T (p.Asp151Tyr) c.289G>T (p.Asp97Tyr) | |
| X | g.133754063C>G | CA414706602 | GPC3 | c.*39G>C (n.*39G>C) c.403G>C (p.Asp135His) n.581G>C c.451G>C (p.Asp151His) c.289G>C (p.Asp97His) | |
| X | g.133754063C>T | CA414706603 | GPC3 | c.*39G>A (n.*39G>A) c.403G>A (p.Asp135Asn) n.581G>A c.451G>A (p.Asp151Asn) c.289G>A (p.Asp97Asn) | ClinVar dbSNP gnomAD v4 |
| X | g.133754064T>A | CA518852458 | GPC3 | c.*38A>T (n.*38A>T) c.402A>T (p.Thr134=) n.580A>T c.450A>T (p.Thr150=) c.288A>T (p.Thr96=) | |
| X | g.133754064T>C | CA518852459 | GPC3 | c.*38A>G (n.*38A>G) c.402A>G (p.Thr134=) n.580A>G c.450A>G (p.Thr150=) c.288A>G (p.Thr96=) | ClinVar dbSNP gnomAD v4 |
| X | g.133754064T>G | CA518852460 | GPC3 | c.*38A>C (n.*38A>C) c.402A>C (p.Thr134=) n.580A>C c.450A>C (p.Thr150=) c.288A>C (p.Thr96=) | |
| X | g.133754064T= | CA2459503382 | GPC3 | c.*38A= (n.*38A=) c.402A= (p.Thr134=) n.580A= c.450A= (p.Thr150=) c.288A= (p.Thr96=) | |
| X | g.133754065G>A | CA414706605 | GPC3 | c.*37C>T (n.*37C>T) c.401C>T (p.Thr134Ile) n.579C>T c.449C>T (p.Thr150Ile) c.287C>T (p.Thr96Ile) | |
| X | g.133754065G>C | CA414706606 | GPC3 | c.*37C>G (n.*37C>G) c.401C>G (p.Thr134Arg) n.579C>G c.449C>G (p.Thr150Arg) c.287C>G (p.Thr96Arg) | |
| X | g.133754065G>T | CA414706604 | GPC3 | c.*37C>A (n.*37C>A) c.401C>A (p.Thr134Lys) n.579C>A c.449C>A (p.Thr150Lys) c.287C>A (p.Thr96Lys) | gnomAD v4 |
| X | g.133754066T>A | CA414706607 | GPC3 | c.*36A>T (n.*36A>T) c.400A>T (p.Thr134Ser) n.578A>T c.448A>T (p.Thr150Ser) c.286A>T (p.Thr96Ser) | |
| X | g.133754066T>C | CA414706608 | GPC3 | c.*36A>G (n.*36A>G) c.400A>G (p.Thr134Ala) n.578A>G c.448A>G (p.Thr150Ala) c.286A>G (p.Thr96Ala) | |
| X | g.133754066T>G | CA414706609 | GPC3 | c.*36A>C (n.*36A>C) c.400A>C (p.Thr134Pro) n.578A>C c.448A>C (p.Thr150Pro) c.286A>C (p.Thr96Pro) | |
| X | g.133754067G>A | CA518852461 | GPC3 | c.*35C>T (n.*35C>T) c.399C>T (p.Phe133=) n.577C>T c.447C>T (p.Phe149=) c.285C>T (p.Phe95=) | |
| X | g.133754067G>C | CA414706610 | GPC3 | c.*35C>G (n.*35C>G) c.399C>G (p.Phe133Leu) n.577C>G c.447C>G (p.Phe149Leu) c.285C>G (p.Phe95Leu) |