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 |
|---|---|---|---|---|---|
| 18 | g.3457582G>A | CA401723571 | TGIF1 | c.401G>A (p.Arg134Lys) c.461G>A (p.Arg154Lys) c.848G>A (p.Arg283Lys) c.*174G>A (n.*174G>A) c.503G>A (p.Arg168Lys) c.470G>A (p.Arg157Lys) | |
| 18 | g.3457582G>C | CA401723572 | TGIF1 | c.401G>C (p.Arg134Thr) c.461G>C (p.Arg154Thr) c.848G>C (p.Arg283Thr) c.*174G>C (n.*174G>C) c.503G>C (p.Arg168Thr) c.470G>C (p.Arg157Thr) | |
| 18 | g.3457582G>T | CA401723573 | TGIF1 | c.401G>T (p.Arg134Met) c.461G>T (p.Arg154Met) c.848G>T (p.Arg283Met) c.*174G>T (n.*174G>T) c.503G>T (p.Arg168Met) c.470G>T (p.Arg157Met) | |
| 18 | g.3457583G>A | CA502810553 | TGIF1 | c.402G>A (p.Arg134=) c.462G>A (p.Arg154=) c.849G>A (p.Arg283=) c.*175G>A (n.*175G>A) c.504G>A (p.Arg168=) c.471G>A (p.Arg157=) | COSMIC |
| 18 | g.3457583G>C | CA401723574 | TGIF1 | c.402G>C (p.Arg134Ser) c.462G>C (p.Arg154Ser) c.849G>C (p.Arg283Ser) c.*175G>C (n.*175G>C) c.504G>C (p.Arg168Ser) c.471G>C (p.Arg157Ser) | |
| 18 | g.3457583G>T | CA401723575 | TGIF1 | c.402G>T (p.Arg134Ser) c.462G>T (p.Arg154Ser) c.849G>T (p.Arg283Ser) c.*175G>T (n.*175G>T) c.504G>T (p.Arg168Ser) c.471G>T (p.Arg157Ser) | |
| 18 | g.3457584C>A | CA401723578 | TGIF1 | c.403C>A (p.Pro135Thr) c.463C>A (p.Pro155Thr) c.850C>A (p.Pro284Thr) c.*176C>A (n.*176C>A) c.505C>A (p.Pro169Thr) c.472C>A (p.Pro158Thr) | |
| 18 | g.3457584C= | CA2281035579 | TGIF1 | c.403C= (p.Pro135=) c.463C= (p.Pro155=) c.850C= (p.Pro284=) c.*176C= (n.*176C=) c.505C= (p.Pro169=) c.472C= (p.Pro158=) | |
| 18 | g.3457584C>G | CA401723577 | TGIF1 | c.403C>G (p.Pro135Ala) c.463C>G (p.Pro155Ala) c.850C>G (p.Pro284Ala) c.*176C>G (n.*176C>G) c.505C>G (p.Pro169Ala) c.472C>G (p.Pro158Ala) | |
| 18 | g.3457584C>T | CA401723576 | TGIF1 | c.403C>T (p.Pro135Ser) c.463C>T (p.Pro155Ser) c.850C>T (p.Pro284Ser) c.*176C>T (n.*176C>T) c.505C>T (p.Pro169Ser) c.472C>T (p.Pro158Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.3457585C>A | CA401723579 | TGIF1 | c.404C>A (p.Pro135Gln) c.464C>A (p.Pro155Gln) c.851C>A (p.Pro284Gln) c.*177C>A (n.*177C>A) c.506C>A (p.Pro169Gln) c.473C>A (p.Pro158Gln) | |
| 18 | g.3457585C>G | CA401723580 | TGIF1 | c.404C>G (p.Pro135Arg) c.464C>G (p.Pro155Arg) c.851C>G (p.Pro284Arg) c.*177C>G (n.*177C>G) c.506C>G (p.Pro169Arg) c.473C>G (p.Pro158Arg) | |
| 18 | g.3457585C>T | CA401723581 | TGIF1 | c.404C>T (p.Pro135Leu) c.464C>T (p.Pro155Leu) c.851C>T (p.Pro284Leu) c.*177C>T (n.*177C>T) c.506C>T (p.Pro169Leu) c.473C>T (p.Pro158Leu) | |
| 18 | g.3457586A= | CA2281035580 | TGIF1 | c.405A= (p.Pro135=) c.465A= (p.Pro155=) c.852A= (p.Pro284=) c.*178A= (n.*178A=) c.507A= (p.Pro169=) c.474A= (p.Pro158=) | |
| 18 | g.3457586A>C | CA502810557 | TGIF1 | c.405A>C (p.Pro135=) c.465A>C (p.Pro155=) c.852A>C (p.Pro284=) c.*178A>C (n.*178A>C) c.507A>C (p.Pro169=) c.474A>C (p.Pro158=) | |
| 18 | g.3457586A>G | CA502810559 | TGIF1 | c.405A>G (p.Pro135=) c.465A>G (p.Pro155=) c.852A>G (p.Pro284=) c.*178A>G (n.*178A>G) c.507A>G (p.Pro169=) c.474A>G (p.Pro158=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457586A>T | CA502810560 | TGIF1 | c.405A>T (p.Pro135=) c.465A>T (p.Pro155=) c.852A>T (p.Pro284=) c.*178A>T (n.*178A>T) c.507A>T (p.Pro169=) c.474A>T (p.Pro158=) | |
| 18 | g.3457587C>A | CA401723582 | TGIF1 | c.406C>A (p.Leu136Met) c.466C>A (p.Leu156Met) c.853C>A (p.Leu285Met) c.*179C>A (n.*179C>A) c.508C>A (p.Leu170Met) c.475C>A (p.Leu159Met) | |
| 18 | g.3457587C>G | CA401723583 | TGIF1 | c.406C>G (p.Leu136Val) c.466C>G (p.Leu156Val) c.853C>G (p.Leu285Val) c.*179C>G (n.*179C>G) c.508C>G (p.Leu170Val) c.475C>G (p.Leu159Val) | |
| 18 | g.3457587C>T | CA502810561 | TGIF1 | c.406C>T (p.Leu136=) c.466C>T (p.Leu156=) c.853C>T (p.Leu285=) c.*179C>T (n.*179C>T) c.508C>T (p.Leu170=) c.475C>T (p.Leu159=) | |
| 18 | g.3457588T>A | CA401723584 | TGIF1 | c.407T>A (p.Leu136Gln) c.467T>A (p.Leu156Gln) c.854T>A (p.Leu285Gln) c.*180T>A (n.*180T>A) c.509T>A (p.Leu170Gln) c.476T>A (p.Leu159Gln) | |
| 18 | g.3457588T>C | CA401723585 | TGIF1 | c.407T>C (p.Leu136Pro) c.467T>C (p.Leu156Pro) c.854T>C (p.Leu285Pro) c.*180T>C (n.*180T>C) c.509T>C (p.Leu170Pro) c.476T>C (p.Leu159Pro) | dbSNP |
| 18 | g.3457588T>G | CA401723586 | TGIF1 | c.407T>G (p.Leu136Arg) c.467T>G (p.Leu156Arg) c.854T>G (p.Leu285Arg) c.*180T>G (n.*180T>G) c.509T>G (p.Leu170Arg) c.476T>G (p.Leu159Arg) | |
| 18 | g.3457588T= | CA2281035581 | TGIF1 | c.407T= (p.Leu136=) c.467T= (p.Leu156=) c.854T= (p.Leu285=) c.*180T= (n.*180T=) c.509T= (p.Leu170=) c.476T= (p.Leu159=) | |
| 18 | g.3457589G>A | CA8875958 | TGIF1 | c.408G>A (p.Leu136=) c.468G>A (p.Leu156=) c.855G>A (p.Leu285=) c.*181G>A (n.*181G>A) c.510G>A (p.Leu170=) c.477G>A (p.Leu159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457589G>C | CA502810564 | TGIF1 | c.408G>C (p.Leu136=) c.468G>C (p.Leu156=) c.855G>C (p.Leu285=) c.*181G>C (n.*181G>C) c.510G>C (p.Leu170=) c.477G>C (p.Leu159=) | gnomAD v4 |
| 18 | g.3457589G= | CA2281035582 | TGIF1 | c.408G= (p.Leu136=) c.468G= (p.Leu156=) c.855G= (p.Leu285=) c.*181G= (n.*181G=) c.510G= (p.Leu170=) c.477G= (p.Leu159=) | |
| 18 | g.3457589G>T | CA502810566 | TGIF1 | c.408G>T (p.Leu136=) c.468G>T (p.Leu156=) c.855G>T (p.Leu285=) c.*181G>T (n.*181G>T) c.510G>T (p.Leu170=) c.477G>T (p.Leu159=) | |
| 18 | g.3457590T>A | CA401723587 | TGIF1 | c.409T>A (p.Ser137Thr) c.469T>A (p.Ser157Thr) c.856T>A (p.Ser286Thr) c.*182T>A (n.*182T>A) c.511T>A (p.Ser171Thr) c.478T>A (p.Ser160Thr) | |
| 18 | g.3457590T>C | CA401723588 | TGIF1 | c.409T>C (p.Ser137Pro) c.469T>C (p.Ser157Pro) c.856T>C (p.Ser286Pro) c.*182T>C (n.*182T>C) c.511T>C (p.Ser171Pro) c.478T>C (p.Ser160Pro) | |
| 18 | g.3457590T>G | CA401723589 | TGIF1 | c.409T>G (p.Ser137Ala) c.469T>G (p.Ser157Ala) c.856T>G (p.Ser286Ala) c.*182T>G (n.*182T>G) c.511T>G (p.Ser171Ala) c.478T>G (p.Ser160Ala) | |
| 18 | g.3457591C>A | CA401723592 | TGIF1 | c.410C>A (p.Ser137Tyr) c.470C>A (p.Ser157Tyr) c.857C>A (p.Ser286Tyr) c.*183C>A (n.*183C>A) c.512C>A (p.Ser171Tyr) c.479C>A (p.Ser160Tyr) | |
| 18 | g.3457591C= | CA2281035583 | TGIF1 | c.410C= (p.Ser137=) c.470C= (p.Ser157=) c.857C= (p.Ser286=) c.*183C= (n.*183C=) c.512C= (p.Ser171=) c.479C= (p.Ser160=) | |
| 18 | g.3457591C>G | CA401723591 | TGIF1 | c.410C>G (p.Ser137Cys) c.470C>G (p.Ser157Cys) c.857C>G (p.Ser286Cys) c.*183C>G (n.*183C>G) c.512C>G (p.Ser171Cys) c.479C>G (p.Ser160Cys) | |
| 18 | g.3457591C>T | CA401723590 | TGIF1 | c.410C>T (p.Ser137Phe) c.470C>T (p.Ser157Phe) c.857C>T (p.Ser286Phe) c.*183C>T (n.*183C>T) c.512C>T (p.Ser171Phe) c.479C>T (p.Ser160Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.3457592T>A | CA502810567 | TGIF1 | c.411T>A (p.Ser137=) c.471T>A (p.Ser157=) c.858T>A (p.Ser286=) c.*184T>A (n.*184T>A) c.513T>A (p.Ser171=) c.480T>A (p.Ser160=) | |
| 18 | g.3457592T>C | CA502810568 | TGIF1 | c.411T>C (p.Ser137=) c.471T>C (p.Ser157=) c.858T>C (p.Ser286=) c.*184T>C (n.*184T>C) c.513T>C (p.Ser171=) c.480T>C (p.Ser160=) | |
| 18 | g.3457592T>G | CA502810570 | TGIF1 | c.411T>G (p.Ser137=) c.471T>G (p.Ser157=) c.858T>G (p.Ser286=) c.*184T>G (n.*184T>G) c.513T>G (p.Ser171=) c.480T>G (p.Ser160=) | |
| 18 | g.3457593C>A | CA401723593 | TGIF1 | c.412C>A (p.Pro138Thr) c.472C>A (p.Pro158Thr) c.859C>A (p.Pro287Thr) c.412C>A c.*185C>A (n.*185C>A) c.514C>A (p.Pro172Thr) c.481C>A (p.Pro161Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457593C= | CA2281035584 | TGIF1 | c.412C= (p.Pro138=) c.472C= (p.Pro158=) c.859C= (p.Pro287=) c.412C= c.*185C= (n.*185C=) c.514C= (p.Pro172=) c.481C= (p.Pro161=) | |
| 18 | g.3457593C>G | CA401723594 | TGIF1 | c.412C>G (p.Pro138Ala) c.472C>G (p.Pro158Ala) c.859C>G (p.Pro287Ala) c.412C>G c.*185C>G (n.*185C>G) c.514C>G (p.Pro172Ala) c.481C>G (p.Pro161Ala) | |
| 18 | g.3457593C>T | CA401723595 | TGIF1 | c.412C>T (p.Pro138Ser) c.472C>T (p.Pro158Ser) c.859C>T (p.Pro287Ser) c.412C>T c.*185C>T (n.*185C>T) c.514C>T (p.Pro172Ser) c.481C>T (p.Pro161Ser) | dbSNP |
| 18 | g.3457594C>A | CA401723596 | TGIF1 | c.413C>A (p.Pro138His) c.473C>A (p.Pro158His) c.860C>A (p.Pro287His) c.413C>A c.*186C>A (n.*186C>A) c.515C>A (p.Pro172His) c.482C>A (p.Pro161His) | |
| 18 | g.3457594C= | CA2281035585 | TGIF1 | c.413C= (p.Pro138=) c.473C= (p.Pro158=) c.860C= (p.Pro287=) c.413C= c.*186C= (n.*186C=) c.515C= (p.Pro172=) c.482C= (p.Pro161=) | |
| 18 | g.3457594C>G | CA401723597 | TGIF1 | c.413C>G (p.Pro138Arg) c.473C>G (p.Pro158Arg) c.860C>G (p.Pro287Arg) c.413C>G c.*186C>G (n.*186C>G) c.515C>G (p.Pro172Arg) c.482C>G (p.Pro161Arg) | |
| 18 | g.3457594C>T | CA401723598 | TGIF1 | c.413C>T (p.Pro138Leu) c.473C>T (p.Pro158Leu) c.860C>T (p.Pro287Leu) c.413C>T c.*186C>T (n.*186C>T) c.515C>T (p.Pro172Leu) c.482C>T (p.Pro161Leu) | dbSNP |
| 18 | g.3457595T>A | CA502810572 | TGIF1 | c.414T>A (p.Pro138=) c.474T>A (p.Pro158=) c.861T>A (p.Pro287=) c.*187T>A (n.*187T>A) c.516T>A (p.Pro172=) c.483T>A (p.Pro161=) | |
| 18 | g.3457595T>C | CA8875959 | TGIF1 | c.414T>C (p.Pro138=) c.474T>C (p.Pro158=) c.861T>C (p.Pro287=) c.*187T>C (n.*187T>C) c.516T>C (p.Pro172=) c.483T>C (p.Pro161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457595T>G | CA502810573 | TGIF1 | c.414T>G (p.Pro138=) c.474T>G (p.Pro158=) c.861T>G (p.Pro287=) c.*187T>G (n.*187T>G) c.516T>G (p.Pro172=) c.483T>G (p.Pro161=) | |
| 18 | g.3457595T= | CA2281035586 | TGIF1 | c.414T= (p.Pro138=) c.474T= (p.Pro158=) c.861T= (p.Pro287=) c.*187T= (n.*187T=) c.516T= (p.Pro172=) c.483T= (p.Pro161=) |