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 |
|---|---|---|---|---|---|
| 3 | g.15470536C>A | CA351597869 | COLQ | c.717G>T (p.Gln239His) n.713G>T c.*479G>T (n.*479G>T) n.483G>T c.687G>T (p.Gln229His) c.615G>T (p.Gln205His) c.546G>T (p.Gln182His) | |
| 3 | g.15470536C>G | CA351597870 | COLQ | c.717G>C (p.Gln239His) n.713G>C c.*479G>C (n.*479G>C) n.483G>C c.687G>C (p.Gln229His) c.615G>C (p.Gln205His) c.546G>C (p.Gln182His) | |
| 3 | g.15470536C>T | CA432643299 | COLQ | c.717G>A (p.Gln239=) n.713G>A c.*479G>A (n.*479G>A) n.483G>A c.687G>A (p.Gln229=) c.615G>A (p.Gln205=) c.546G>A (p.Gln182=) | |
| 3 | g.15470537T>A | CA351597873 | COLQ | c.716A>T (p.Gln239Leu) n.712A>T c.*478A>T (n.*478A>T) n.482A>T c.686A>T (p.Gln229Leu) c.614A>T (p.Gln205Leu) c.545A>T (p.Gln182Leu) | dbSNP |
| 3 | g.15470537T>C | CA351597875 | COLQ | c.716A>G (p.Gln239Arg) n.712A>G c.*478A>G (n.*478A>G) n.482A>G c.686A>G (p.Gln229Arg) c.614A>G (p.Gln205Arg) c.545A>G (p.Gln182Arg) | |
| 3 | g.15470537T>G | CA351597876 | COLQ | c.716A>C (p.Gln239Pro) n.712A>C c.*478A>C (n.*478A>C) n.482A>C c.686A>C (p.Gln229Pro) c.614A>C (p.Gln205Pro) c.545A>C (p.Gln182Pro) | gnomAD v4 |
| 3 | g.15470537T= | CA1347589225 | COLQ | c.716A= (p.Gln239=) n.712A= c.*478A= (n.*478A=) n.482A= c.686A= (p.Gln229=) c.614A= (p.Gln205=) c.545A= (p.Gln182=) | |
| 3 | g.15470538G>A | CA351597878 | COLQ | c.715C>T (p.Gln239Ter) n.711C>T c.*477C>T (n.*477C>T) n.481C>T c.685C>T (p.Gln229Ter) c.613C>T (p.Gln205Ter) c.544C>T (p.Gln182Ter) | |
| 3 | g.15470538G>C | CA351597882 | COLQ | c.715C>G (p.Gln239Glu) n.711C>G c.*477C>G (n.*477C>G) n.481C>G c.685C>G (p.Gln229Glu) c.613C>G (p.Gln205Glu) c.544C>G (p.Gln182Glu) | |
| 3 | g.15470538G>T | CA351597880 | COLQ | c.715C>A (p.Gln239Lys) n.711C>A c.*477C>A (n.*477C>A) n.481C>A c.685C>A (p.Gln229Lys) c.613C>A (p.Gln205Lys) c.544C>A (p.Gln182Lys) | |
| 3 | g.15470539C>A | CA351597884 | COLQ | c.714G>T (p.Lys238Asn) n.710G>T c.*476G>T (n.*476G>T) n.480G>T c.684G>T (p.Lys228Asn) c.612G>T (p.Lys204Asn) c.543G>T (p.Lys181Asn) | gnomAD v4 |
| 3 | g.15470539C>G | CA351597885 | COLQ | c.714G>C (p.Lys238Asn) n.710G>C c.*476G>C (n.*476G>C) n.480G>C c.684G>C (p.Lys228Asn) c.612G>C (p.Lys204Asn) c.543G>C (p.Lys181Asn) | |
| 3 | g.15470539C>T | CA432643308 | COLQ | c.714G>A (p.Lys238=) n.710G>A c.*476G>A (n.*476G>A) n.480G>A c.684G>A (p.Lys228=) c.612G>A (p.Lys204=) c.543G>A (p.Lys181=) | |
| 3 | g.15470540T>A | CA351597886 | COLQ | c.713A>T (p.Lys238Met) n.709A>T c.*475A>T (n.*475A>T) n.479A>T c.683A>T (p.Lys228Met) c.611A>T (p.Lys204Met) c.542A>T (p.Lys181Met) | |
| 3 | g.15470540T>C | CA2276015 | COLQ | c.713A>G (p.Lys238Arg) n.709A>G c.*475A>G (n.*475A>G) n.479A>G c.683A>G (p.Lys228Arg) c.611A>G (p.Lys204Arg) c.542A>G (p.Lys181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15470540T>G | CA351597889 | COLQ | c.713A>C (p.Lys238Thr) n.709A>C c.*475A>C (n.*475A>C) n.479A>C c.683A>C (p.Lys228Thr) c.611A>C (p.Lys204Thr) c.542A>C (p.Lys181Thr) | |
| 3 | g.15470540T= | CA1347589226 | COLQ | c.713A= (p.Lys238=) n.709A= c.*475A= (n.*475A=) n.479A= c.683A= (p.Lys228=) c.611A= (p.Lys204=) c.542A= (p.Lys181=) | |
| 3 | g.15470541T>A | CA351597891 | COLQ | c.712A>T (p.Lys238Ter) n.708A>T c.*474A>T (n.*474A>T) n.478A>T c.682A>T (p.Lys228Ter) c.610A>T (p.Lys204Ter) c.541A>T (p.Lys181Ter) | |
| 3 | g.15470541T>C | CA351597892 | COLQ | c.712A>G (p.Lys238Glu) n.708A>G c.*474A>G (n.*474A>G) n.478A>G c.682A>G (p.Lys228Glu) c.610A>G (p.Lys204Glu) c.541A>G (p.Lys181Glu) | |
| 3 | g.15470541T>G | CA351597894 | COLQ | c.712A>C (p.Lys238Gln) n.708A>C c.*474A>C (n.*474A>C) n.478A>C c.682A>C (p.Lys228Gln) c.610A>C (p.Lys204Gln) c.541A>C (p.Lys181Gln) | |
| 3 | g.15470542G>A | CA432643317 | COLQ | c.711C>T (p.Gly237=) n.707C>T c.*473C>T (n.*473C>T) n.477C>T c.681C>T (p.Gly227=) c.609C>T (p.Gly203=) c.540C>T (p.Gly180=) | |
| 3 | g.15470542G>C | CA432643316 | COLQ | c.711C>G (p.Gly237=) n.707C>G c.*473C>G (n.*473C>G) n.477C>G c.681C>G (p.Gly227=) c.609C>G (p.Gly203=) c.540C>G (p.Gly180=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15470542G= | CA1347589227 | COLQ | c.711C= (p.Gly237=) n.707C= c.*473C= (n.*473C=) n.477C= c.681C= (p.Gly227=) c.609C= (p.Gly203=) c.540C= (p.Gly180=) | |
| 3 | g.15470542G>T | CA2276016 | COLQ | c.711C>A (p.Gly237=) n.707C>A c.*473C>A (n.*473C>A) n.477C>A c.681C>A (p.Gly227=) c.609C>A (p.Gly203=) c.540C>A (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15470543C>A | CA351597897 | COLQ | c.710G>T (p.Gly237Val) n.706G>T c.*472G>T (n.*472G>T) n.476G>T c.680G>T (p.Gly227Val) c.608G>T (p.Gly203Val) c.539G>T (p.Gly180Val) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.15470543C= | CA1347589228 | COLQ | c.710G= (p.Gly237=) n.706G= c.*472G= (n.*472G=) n.476G= c.680G= (p.Gly227=) c.608G= (p.Gly203=) c.539G= (p.Gly180=) | |
| 3 | g.15470543C>G | CA351597899 | COLQ | c.710G>C (p.Gly237Ala) n.706G>C c.*472G>C (n.*472G>C) n.476G>C c.680G>C (p.Gly227Ala) c.608G>C (p.Gly203Ala) c.539G>C (p.Gly180Ala) | |
| 3 | g.15470543C>T | CA2276017 | COLQ | c.710G>A (p.Gly237Asp) n.706G>A c.*472G>A (n.*472G>A) n.476G>A c.680G>A (p.Gly227Asp) c.608G>A (p.Gly203Asp) c.539G>A (p.Gly180Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15470544C>A | CA351597900 | COLQ | c.709G>T (p.Gly237Cys) n.705G>T c.*471G>T (n.*471G>T) n.475G>T c.679G>T (p.Gly227Cys) c.607G>T (p.Gly203Cys) c.538G>T (p.Gly180Cys) | |
| 3 | g.15470544C>G | CA351597902 | COLQ | c.709G>C (p.Gly237Arg) n.705G>C c.*471G>C (n.*471G>C) n.475G>C c.679G>C (p.Gly227Arg) c.607G>C (p.Gly203Arg) c.538G>C (p.Gly180Arg) | |
| 3 | g.15470544C>T | CA351597904 | COLQ | c.709G>A (p.Gly237Ser) n.705G>A c.*471G>A (n.*471G>A) n.475G>A c.679G>A (p.Gly227Ser) c.607G>A (p.Gly203Ser) c.538G>A (p.Gly180Ser) | gnomAD v4 |
| 3 | g.15470545T>A | CA432643326 | COLQ | c.708A>T (p.Arg236=) n.704A>T c.*470A>T (n.*470A>T) n.474A>T c.678A>T (p.Arg226=) c.606A>T (p.Arg202=) c.537A>T (p.Arg179=) | |
| 3 | g.15470545T>C | CA432643327 | COLQ | c.708A>G (p.Arg236=) n.704A>G c.*470A>G (n.*470A>G) n.474A>G c.678A>G (p.Arg226=) c.606A>G (p.Arg202=) c.537A>G (p.Arg179=) | |
| 3 | g.15470545T>G | CA432643329 | COLQ | c.708A>C (p.Arg236=) n.704A>C c.*470A>C (n.*470A>C) n.474A>C c.678A>C (p.Arg226=) c.606A>C (p.Arg202=) c.537A>C (p.Arg179=) | |
| 3 | g.15470546del | CA2664661789 | COLQ | c.707del (p.Arg236GlnfsTer?) n.703del c.*469del (n.*469del) n.473del c.677del (p.Arg226GlnfsTer?) c.605del (p.Arg202GlnfsTer?) c.536del (p.Arg179GlnfsTer?) | gnomAD v4 |
| 3 | g.15470546C>A | CA351597906 | COLQ | c.707G>T (p.Arg236Leu) n.703G>T c.*469G>T (n.*469G>T) n.473G>T c.677G>T (p.Arg226Leu) c.605G>T (p.Arg202Leu) c.536G>T (p.Arg179Leu) | |
| 3 | g.15470546C= | CA1347589229 | COLQ | c.707G= (p.Arg236=) n.703G= c.*469G= (n.*469G=) n.473G= c.677G= (p.Arg226=) c.605G= (p.Arg202=) c.536G= (p.Arg179=) | |
| 3 | g.15470546C>G | CA351597909 | COLQ | c.707G>C (p.Arg236Pro) n.703G>C c.*469G>C (n.*469G>C) n.473G>C c.677G>C (p.Arg226Pro) c.605G>C (p.Arg202Pro) c.536G>C (p.Arg179Pro) | gnomAD v4 |
| 3 | g.15470546C>T | CA2276018 | COLQ | c.707G>A (p.Arg236Gln) n.703G>A c.*469G>A (n.*469G>A) n.473G>A c.677G>A (p.Arg226Gln) c.605G>A (p.Arg202Gln) c.536G>A (p.Arg179Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15470547G>A | CA2276020 | COLQ | c.706C>T (p.Arg236Ter) n.702C>T c.*468C>T (n.*468C>T) n.472C>T c.676C>T (p.Arg226Ter) c.604C>T (p.Arg202Ter) c.535C>T (p.Arg179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.15470547G>C | CA2276019 | COLQ | c.706C>G (p.Arg236Gly) n.702C>G c.*468C>G (n.*468C>G) n.472C>G c.676C>G (p.Arg226Gly) c.604C>G (p.Arg202Gly) c.535C>G (p.Arg179Gly) | dbSNP ExAC gnomAD v4 |
| 3 | g.15470547G= | CA1347589230 | COLQ | c.706C= (p.Arg236=) n.702C= c.*468C= (n.*468C=) n.472C= c.676C= (p.Arg226=) c.604C= (p.Arg202=) c.535C= (p.Arg179=) | |
| 3 | g.15470547G>T | CA432643331 | COLQ | c.706C>A (p.Arg236=) n.702C>A c.*468C>A (n.*468C>A) n.472C>A c.676C>A (p.Arg226=) c.604C>A (p.Arg202=) c.535C>A (p.Arg179=) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.15470548T>A | CA351597913 | COLQ | c.705A>T (p.Lys235Asn) n.701A>T c.*467A>T (n.*467A>T) n.471A>T c.675A>T (p.Lys225Asn) c.603A>T (p.Lys201Asn) c.534A>T (p.Lys178Asn) | |
| 3 | g.15470548T>C | CA432643334 | COLQ | c.705A>G (p.Lys235=) n.701A>G c.*467A>G (n.*467A>G) n.471A>G c.675A>G (p.Lys225=) c.603A>G (p.Lys201=) c.534A>G (p.Lys178=) | |
| 3 | g.15470548T>G | CA351597915 | COLQ | c.705A>C (p.Lys235Asn) n.701A>C c.*467A>C (n.*467A>C) n.471A>C c.675A>C (p.Lys225Asn) c.603A>C (p.Lys201Asn) c.534A>C (p.Lys178Asn) | |
| 3 | g.15470549T>A | CA351597917 | COLQ | c.704A>T (p.Lys235Ile) n.700A>T c.*466A>T (n.*466A>T) n.470A>T c.674A>T (p.Lys225Ile) c.602A>T (p.Lys201Ile) c.533A>T (p.Lys178Ile) | |
| 3 | g.15470549T>C | CA351597919 | COLQ | c.704A>G (p.Lys235Arg) n.700A>G c.*466A>G (n.*466A>G) n.470A>G c.674A>G (p.Lys225Arg) c.602A>G (p.Lys201Arg) c.533A>G (p.Lys178Arg) | |
| 3 | g.15470549T>G | CA351597921 | COLQ | c.704A>C (p.Lys235Thr) n.700A>C c.*466A>C (n.*466A>C) n.470A>C c.674A>C (p.Lys225Thr) c.602A>C (p.Lys201Thr) c.533A>C (p.Lys178Thr) | |
| 3 | g.15470550T>A | CA351597923 | COLQ | c.703A>T (p.Lys235Ter) n.699A>T c.*465A>T (n.*465A>T) n.469A>T c.673A>T (p.Lys225Ter) c.601A>T (p.Lys201Ter) c.532A>T (p.Lys178Ter) |