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 |
|---|---|---|---|---|---|
| 19 | g.29702724C>A | CA405142246 | C19orf12 | c.414G>T (p.Gln138His) n.805G>T c.222G>T (p.Gln74His) c.447G>T (p.Gln149His) c.*35G>T (n.*35G>T) c.576G>T (p.Gln192His) | gnomAD v4 |
| 19 | g.29702724C>G | CA405142247 | C19orf12 | c.414G>C (p.Gln138His) n.805G>C c.222G>C (p.Gln74His) c.447G>C (p.Gln149His) c.*35G>C (n.*35G>C) c.576G>C (p.Gln192His) | |
| 19 | g.29702724C>T | CA506986348 | C19orf12 | c.414G>A (p.Gln138=) n.805G>A c.222G>A (p.Gln74=) c.447G>A (p.Gln149=) c.*35G>A (n.*35G>A) c.576G>A (p.Gln192=) | |
| 19 | g.29702725T>A | CA405142248 | C19orf12 | c.413A>T (p.Gln138Leu) n.804A>T c.221A>T (p.Gln74Leu) c.446A>T (p.Gln149Leu) c.*34A>T (n.*34A>T) c.575A>T (p.Gln192Leu) | |
| 19 | g.29702725T>C | CA9351863 | C19orf12 | c.413A>G (p.Gln138Arg) n.804A>G c.221A>G (p.Gln74Arg) c.446A>G (p.Gln149Arg) c.*34A>G (n.*34A>G) c.575A>G (p.Gln192Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702725T>G | CA405142249 | C19orf12 | c.413A>C (p.Gln138Pro) n.804A>C c.221A>C (p.Gln74Pro) c.446A>C (p.Gln149Pro) c.*34A>C (n.*34A>C) c.575A>C (p.Gln192Pro) | |
| 19 | g.29702725T= | CA2330913504 | C19orf12 | c.413A= (p.Gln138=) n.804A= c.221A= (p.Gln74=) c.446A= (p.Gln149=) c.*34A= (n.*34A=) c.575A= (p.Gln192=) | |
| 19 | g.29702726G>A | CA405142250 | C19orf12 | c.412C>T (p.Gln138Ter) n.803C>T c.220C>T (p.Gln74Ter) c.445C>T (p.Gln149Ter) c.*33C>T (n.*33C>T) c.574C>T (p.Gln192Ter) | COSMIC COSMIC |
| 19 | g.29702726G>C | CA405142251 | C19orf12 | c.412C>G (p.Gln138Glu) n.803C>G c.220C>G (p.Gln74Glu) c.445C>G (p.Gln149Glu) c.*33C>G (n.*33C>G) c.574C>G (p.Gln192Glu) | |
| 19 | g.29702726G>T | CA405142252 | C19orf12 | c.412C>A (p.Gln138Lys) n.803C>A c.220C>A (p.Gln74Lys) c.445C>A (p.Gln149Lys) c.*33C>A (n.*33C>A) c.574C>A (p.Gln192Lys) | ClinVar gnomAD v4 |
| 19 | g.29702727G>A | CA506986367 | C19orf12 | c.411C>T (p.Ile137=) n.802C>T c.219C>T (p.Ile73=) c.444C>T (p.Ile148=) c.*32C>T (n.*32C>T) c.573C>T (p.Ile191=) | |
| 19 | g.29702727G>C | CA405142253 | C19orf12 | c.411C>G (p.Ile137Met) n.802C>G c.219C>G (p.Ile73Met) c.444C>G (p.Ile148Met) c.*32C>G (n.*32C>G) c.573C>G (p.Ile191Met) | |
| 19 | g.29702727G>T | CA506986373 | C19orf12 | c.411C>A (p.Ile137=) n.802C>A c.219C>A (p.Ile73=) c.444C>A (p.Ile148=) c.*32C>A (n.*32C>A) c.573C>A (p.Ile191=) | |
| 19 | g.29702728A>C | CA405142254 | C19orf12 | c.410T>G (p.Ile137Ser) n.801T>G c.218T>G (p.Ile73Ser) c.443T>G (p.Ile148Ser) c.*31T>G (n.*31T>G) c.572T>G (p.Ile191Ser) | |
| 19 | g.29702728A>G | CA405142255 | C19orf12 | c.410T>C (p.Ile137Thr) n.801T>C c.218T>C (p.Ile73Thr) c.443T>C (p.Ile148Thr) c.*31T>C (n.*31T>C) c.572T>C (p.Ile191Thr) | |
| 19 | g.29702728A>T | CA405142256 | C19orf12 | c.410T>A (p.Ile137Asn) n.801T>A c.218T>A (p.Ile73Asn) c.443T>A (p.Ile148Asn) c.*31T>A (n.*31T>A) c.572T>A (p.Ile191Asn) | |
| 19 | g.29702729T>A | CA405142259 | C19orf12 | c.409A>T (p.Ile137Phe) n.800A>T c.217A>T (p.Ile73Phe) c.442A>T (p.Ile148Phe) c.*30A>T (n.*30A>T) c.571A>T (p.Ile191Phe) | |
| 19 | g.29702729T>C | CA405142258 | C19orf12 | c.409A>G (p.Ile137Val) n.800A>G c.217A>G (p.Ile73Val) c.442A>G (p.Ile148Val) c.*30A>G (n.*30A>G) c.571A>G (p.Ile191Val) | |
| 19 | g.29702729T>G | CA405142257 | C19orf12 | c.409A>C (p.Ile137Leu) n.800A>C c.217A>C (p.Ile73Leu) c.442A>C (p.Ile148Leu) c.*30A>C (n.*30A>C) c.571A>C (p.Ile191Leu) | |
| 19 | g.29702730C>A | CA405142260 | C19orf12 | c.408G>T (p.Glu136Asp) n.799G>T c.216G>T (p.Glu72Asp) c.441G>T (p.Glu147Asp) c.*29G>T (n.*29G>T) c.570G>T (p.Glu190Asp) | gnomAD v4 |
| 19 | g.29702730C= | CA2330913505 | C19orf12 | c.408G= (p.Glu136=) n.799G= c.216G= (p.Glu72=) c.441G= (p.Glu147=) c.*29G= (n.*29G=) c.570G= (p.Glu190=) | |
| 19 | g.29702730C>G | CA405142261 | C19orf12 | c.408G>C (p.Glu136Asp) n.799G>C c.216G>C (p.Glu72Asp) c.441G>C (p.Glu147Asp) c.*29G>C (n.*29G>C) c.570G>C (p.Glu190Asp) | |
| 19 | g.29702730C>T | CA506986399 | C19orf12 | c.408G>A (p.Glu136=) n.799G>A c.216G>A (p.Glu72=) c.441G>A (p.Glu147=) c.*29G>A (n.*29G>A) c.570G>A (p.Glu190=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.29702731T>A | CA405142262 | C19orf12 | c.407A>T (p.Glu136Val) n.798A>T c.215A>T (p.Glu72Val) c.440A>T (p.Glu147Val) c.*28A>T (n.*28A>T) c.569A>T (p.Glu190Val) | |
| 19 | g.29702731T>C | CA405142263 | C19orf12 | c.407A>G (p.Glu136Gly) n.798A>G c.215A>G (p.Glu72Gly) c.440A>G (p.Glu147Gly) c.*28A>G (n.*28A>G) c.569A>G (p.Glu190Gly) | |
| 19 | g.29702731T>G | CA405142264 | C19orf12 | c.407A>C (p.Glu136Ala) n.798A>C c.215A>C (p.Glu72Ala) c.440A>C (p.Glu147Ala) c.*28A>C (n.*28A>C) c.569A>C (p.Glu190Ala) | |
| 19 | g.29702732C>A | CA405142265 | C19orf12 | c.406G>T (p.Glu136Ter) n.797G>T c.214G>T (p.Glu72Ter) c.439G>T (p.Glu147Ter) c.*27G>T (n.*27G>T) c.568G>T (p.Glu190Ter) | |
| 19 | g.29702732C= | CA2330913506 | C19orf12 | c.406G= (p.Glu136=) n.797G= c.214G= (p.Glu72=) c.439G= (p.Glu147=) c.*27G= (n.*27G=) c.568G= (p.Glu190=) | |
| 19 | g.29702732C>G | CA405142266 | C19orf12 | c.406G>C (p.Glu136Gln) n.797G>C c.214G>C (p.Glu72Gln) c.439G>C (p.Glu147Gln) c.*27G>C (n.*27G>C) c.568G>C (p.Glu190Gln) | |
| 19 | g.29702732C>T | CA9351864 | C19orf12 | c.406G>A (p.Glu136Lys) n.797G>A c.214G>A (p.Glu72Lys) c.439G>A (p.Glu147Lys) c.*27G>A (n.*27G>A) c.568G>A (p.Glu190Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702733G>A | CA9351865 | C19orf12 | c.405C>T (p.Ala135=) n.796C>T c.213C>T (p.Ala71=) c.438C>T (p.Ala146=) c.*26C>T (n.*26C>T) c.567C>T (p.Ala189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.29702733G>C | CA9351866 | C19orf12 | c.405C>G (p.Ala135=) n.796C>G c.213C>G (p.Ala71=) c.438C>G (p.Ala146=) c.*26C>G (n.*26C>G) c.567C>G (p.Ala189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.29702733G= | CA2330913507 | C19orf12 | c.405C= (p.Ala135=) n.796C= c.213C= (p.Ala71=) c.438C= (p.Ala146=) c.*26C= (n.*26C=) c.567C= (p.Ala189=) | |
| 19 | g.29702733G>T | CA506986431 | C19orf12 | c.405C>A (p.Ala135=) n.796C>A c.213C>A (p.Ala71=) c.438C>A (p.Ala146=) c.*26C>A (n.*26C>A) c.567C>A (p.Ala189=) | |
| 19 | g.29702734G>A | CA405142267 | C19orf12 | c.404C>T (p.Ala135Val) n.795C>T c.212C>T (p.Ala71Val) c.437C>T (p.Ala146Val) c.*25C>T (n.*25C>T) c.566C>T (p.Ala189Val) | dbSNP COSMIC COSMIC |
| 19 | g.29702734G>C | CA405142268 | C19orf12 | c.404C>G (p.Ala135Gly) n.795C>G c.212C>G (p.Ala71Gly) c.437C>G (p.Ala146Gly) c.*25C>G (n.*25C>G) c.566C>G (p.Ala189Gly) | |
| 19 | g.29702734G= | CA2330913508 | C19orf12 | c.404C= (p.Ala135=) n.795C= c.212C= (p.Ala71=) c.437C= (p.Ala146=) c.*25C= (n.*25C=) c.566C= (p.Ala189=) | |
| 19 | g.29702734G>T | CA405142269 | C19orf12 | c.404C>A (p.Ala135Asp) n.795C>A c.212C>A (p.Ala71Asp) c.437C>A (p.Ala146Asp) c.*25C>A (n.*25C>A) c.566C>A (p.Ala189Asp) | |
| 19 | g.29702735C>A | CA405142271 | C19orf12 | c.403G>T (p.Ala135Ser) n.794G>T c.211G>T (p.Ala71Ser) c.436G>T (p.Ala146Ser) c.*24G>T (n.*24G>T) c.565G>T (p.Ala189Ser) | dbSNP gnomAD v4 |
| 19 | g.29702735C= | CA2330913509 | C19orf12 | c.403G= (p.Ala135=) n.794G= c.211G= (p.Ala71=) c.436G= (p.Ala146=) c.*24G= (n.*24G=) c.565G= (p.Ala189=) | |
| 19 | g.29702735C>G | CA405142272 | C19orf12 | c.403G>C (p.Ala135Pro) n.794G>C c.211G>C (p.Ala71Pro) c.436G>C (p.Ala146Pro) c.*24G>C (n.*24G>C) c.565G>C (p.Ala189Pro) | |
| 19 | g.29702735C>T | CA405142270 | C19orf12 | c.403G>A (p.Ala135Thr) n.794G>A c.211G>A (p.Ala71Thr) c.436G>A (p.Ala146Thr) c.*24G>A (n.*24G>A) c.565G>A (p.Ala189Thr) | |
| 19 | g.29702737dup | CA2499225430 | C19orf12 | c.403dup (p.Ala135GlyfsTer6) n.794dup c.211dup (p.Ala71GlyfsTer6) c.436dup (p.Ala146GlyfsTer6) c.*24dup (n.*24dup) c.565dup (p.Ala189GlyfsTer6) | ClinVar dbSNP gnomAD v4 |
| 19 | g.29702736C>A | CA506986454 | C19orf12 | c.402G>T (p.Arg134=) n.793G>T c.210G>T (p.Arg70=) c.435G>T (p.Arg145=) c.*23G>T (n.*23G>T) c.564G>T (p.Arg188=) | |
| 19 | g.29702736C>G | CA506986456 | C19orf12 | c.402G>C (p.Arg134=) n.793G>C c.210G>C (p.Arg70=) c.435G>C (p.Arg145=) c.*23G>C (n.*23G>C) c.564G>C (p.Arg188=) | |
| 19 | g.29702736C>T | CA506986459 | C19orf12 | c.402G>A (p.Arg134=) n.793G>A c.210G>A (p.Arg70=) c.435G>A (p.Arg145=) c.*23G>A (n.*23G>A) c.564G>A (p.Arg188=) | |
| 19 | g.29702737C>A | CA405142273 | C19orf12 | c.401G>T (p.Arg134Leu) n.792G>T c.209G>T (p.Arg70Leu) c.434G>T (p.Arg145Leu) c.*22G>T (n.*22G>T) c.563G>T (p.Arg188Leu) | COSMIC COSMIC |
| 19 | g.29702737C= | CA2330913510 | C19orf12 | c.401G= (p.Arg134=) n.792G= c.209G= (p.Arg70=) c.434G= (p.Arg145=) c.*22G= (n.*22G=) c.563G= (p.Arg188=) | |
| 19 | g.29702737C>G | CA405142274 | C19orf12 | c.401G>C (p.Arg134Pro) n.792G>C c.209G>C (p.Arg70Pro) c.434G>C (p.Arg145Pro) c.*22G>C (n.*22G>C) c.563G>C (p.Arg188Pro) | |
| 19 | g.29702737C>T | CA9351867 | C19orf12 | c.401G>A (p.Arg134Gln) n.792G>A c.209G>A (p.Arg70Gln) c.434G>A (p.Arg145Gln) c.*22G>A (n.*22G>A) c.563G>A (p.Arg188Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |